A disease is a disposition that describes states of disease associated with a particular sample and/or organism.
Ontology: https://www.ebi.ac.uk/ols4/ontologies/efo
Root URIs: http://www.ebi.ac.uk/efo/EFO_0000408
17585 Terms
Label | Ontology URI | Parent URI |
---|---|---|
cancer or benign tumor | http://purl.obolibrary.org/obo/MONDO_0045024 | http://www.ebi.ac.uk/efo/EFO_0000408 |
neoplastic disease or syndrome | http://purl.obolibrary.org/obo/MONDO_0023370 | http://purl.obolibrary.org/obo/MONDO_0045024 |
neoplastic syndrome | http://purl.obolibrary.org/obo/MONDO_0021058 | http://purl.obolibrary.org/obo/MONDO_0023370 |
Carney triad | http://purl.obolibrary.org/obo/MONDO_0011424 | http://purl.obolibrary.org/obo/MONDO_0021058 |
ectopic hormone secretion syndrome associated with neoplasia | http://purl.obolibrary.org/obo/MONDO_0045072 | http://purl.obolibrary.org/obo/MONDO_0021058 |
inappropriate ADH syndrome | http://www.ebi.ac.uk/efo/EFO_1000982 | http://purl.obolibrary.org/obo/MONDO_0045072 |
autoimmune lymphoproliferative syndrome | http://purl.obolibrary.org/obo/MONDO_0017979 | http://purl.obolibrary.org/obo/MONDO_0021058 |
autoimmune lymphoproliferative syndrome type 4 | http://purl.obolibrary.org/obo/MONDO_0013767 | http://purl.obolibrary.org/obo/MONDO_0017979 |
autoimmune lymphoproliferative syndrome type 2A | http://purl.obolibrary.org/obo/MONDO_0011383 | http://purl.obolibrary.org/obo/MONDO_0017979 |
autoimmune lymphoproliferative syndrome type 2B | http://purl.obolibrary.org/obo/MONDO_0011804 | http://purl.obolibrary.org/obo/MONDO_0017979 |
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | http://purl.obolibrary.org/obo/MONDO_0014493 | http://purl.obolibrary.org/obo/MONDO_0017979 |
multiple endocrine neoplasia | http://purl.obolibrary.org/obo/MONDO_0017169 | http://purl.obolibrary.org/obo/MONDO_0021058 |
multiple endocrine neoplasia type 1 | http://purl.obolibrary.org/obo/MONDO_0007540 | http://purl.obolibrary.org/obo/MONDO_0017169 |
multiple endocrine neoplasia type 4 | http://purl.obolibrary.org/obo/MONDO_0012552 | http://purl.obolibrary.org/obo/MONDO_0017169 |
multiple endocrine neoplasia type 2 | http://purl.obolibrary.org/obo/MONDO_0019003 | http://purl.obolibrary.org/obo/MONDO_0017169 |
multiple endocrine neoplasia type 2B | http://purl.obolibrary.org/obo/MONDO_0008082 | http://purl.obolibrary.org/obo/MONDO_0019003 |
multiple endocrine neoplasia type 2A | http://purl.obolibrary.org/obo/MONDO_0008234 | http://purl.obolibrary.org/obo/MONDO_0019003 |
familial medullary thyroid carcinoma | http://purl.obolibrary.org/obo/MONDO_0007958 | http://purl.obolibrary.org/obo/MONDO_0019003 |
Zollinger-Ellison Syndrome | http://www.ebi.ac.uk/efo/EFO_0007549 | http://purl.obolibrary.org/obo/MONDO_0021058 |
mosaic variegated aneuploidy syndrome | http://purl.obolibrary.org/obo/MONDO_0000141 | http://purl.obolibrary.org/obo/MONDO_0021058 |
Richter syndrome | http://purl.obolibrary.org/obo/MONDO_0002083 | http://purl.obolibrary.org/obo/MONDO_0021058 |
myelodysplastic syndrome | http://www.ebi.ac.uk/efo/EFO_0000198 | http://purl.obolibrary.org/obo/MONDO_0021058 |
refractory cytopenia with multilineage dysplasia | http://purl.obolibrary.org/obo/MONDO_0019453 | http://www.ebi.ac.uk/efo/EFO_0000198 |
refractory anemia | http://www.ebi.ac.uk/efo/EFO_0003802 | http://purl.obolibrary.org/obo/MONDO_0019453 |
congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0033683 | http://purl.obolibrary.org/obo/MONDO_0019453 |
refractory anemia with ringed sideroblasts | http://www.ebi.ac.uk/efo/EFO_0003812 | http://www.ebi.ac.uk/efo/EFO_0000198 |
refractory anemia with excess blasts | http://www.ebi.ac.uk/efo/EFO_0003811 | http://www.ebi.ac.uk/efo/EFO_0000198 |
carcinogenicity | http://www.ebi.ac.uk/efo/EFO_0011046 | http://purl.obolibrary.org/obo/MONDO_0023370 |
secondary neoplasm | http://purl.obolibrary.org/obo/MONDO_0024882 | http://purl.obolibrary.org/obo/MONDO_0023370 |
metastatic neoplasm | http://www.ebi.ac.uk/efo/EFO_0009709 | http://purl.obolibrary.org/obo/MONDO_0024882 |
leptomeningeal metastasis | http://www.ebi.ac.uk/efo/EFO_1001012 | http://www.ebi.ac.uk/efo/EFO_0009709 |
metastatic colorectal cancer | http://www.ebi.ac.uk/efo/EFO_1001480 | http://www.ebi.ac.uk/efo/EFO_0009709 |
metastatic malignant neoplasm | http://purl.obolibrary.org/obo/MONDO_0024880 | http://www.ebi.ac.uk/efo/EFO_0009709 |
metastatic carcinoma | http://purl.obolibrary.org/obo/MONDO_0024879 | http://purl.obolibrary.org/obo/MONDO_0024880 |
Krukenberg Tumor | http://www.ebi.ac.uk/efo/EFO_1000316 | http://purl.obolibrary.org/obo/MONDO_0024879 |
metastatic malignant neoplasm in the colon | http://purl.obolibrary.org/obo/MONDO_0041447 | http://purl.obolibrary.org/obo/MONDO_0024880 |
metastatic pancreatic neuroendocrine tumours | http://www.ebi.ac.uk/efo/EFO_0009140 | http://www.ebi.ac.uk/efo/EFO_0009709 |
micrometastasis | http://www.ebi.ac.uk/efo/EFO_0009710 | http://www.ebi.ac.uk/efo/EFO_0009709 |
secondary malignant neoplasm | http://www.ebi.ac.uk/efo/EFO_0009812 | http://purl.obolibrary.org/obo/MONDO_0024882 |
secondary carcinoma | http://purl.obolibrary.org/obo/MONDO_0024878 | http://www.ebi.ac.uk/efo/EFO_0009812 |
neoplasm | http://www.ebi.ac.uk/efo/EFO_0000616 | http://purl.obolibrary.org/obo/MONDO_0023370 |
upper aerodigestive tract neoplasm | http://www.ebi.ac.uk/efo/EFO_0004284 | http://www.ebi.ac.uk/efo/EFO_0000616 |
fibrosis | http://www.ebi.ac.uk/efo/EFO_0006890 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Peritoneal Fibrosis | http://www.ebi.ac.uk/efo/EFO_1001394 | http://www.ebi.ac.uk/efo/EFO_0006890 |
primary myelofibrosis | http://www.ebi.ac.uk/efo/EFO_0002430 | http://www.ebi.ac.uk/efo/EFO_0006890 |
cirrhosis of liver | http://www.ebi.ac.uk/efo/EFO_0001422 | http://www.ebi.ac.uk/efo/EFO_0006890 |
biliary liver cirrhosis | http://www.ebi.ac.uk/efo/EFO_0004267 | http://www.ebi.ac.uk/efo/EFO_0001422 |
primary biliary cirrhosis | http://www.ebi.ac.uk/efo/EFO_1001486 | http://www.ebi.ac.uk/efo/EFO_0004267 |
secondary biliary cirrhosis | http://www.ebi.ac.uk/efo/EFO_1001487 | http://www.ebi.ac.uk/efo/EFO_0004267 |
cirrhosis, familial | http://purl.obolibrary.org/obo/MONDO_0007329 | http://www.ebi.ac.uk/efo/EFO_0001422 |
hepatitis C induced liver cirrhosis | http://www.ebi.ac.uk/efo/EFO_0005129 | http://www.ebi.ac.uk/efo/EFO_0001422 |
alcoholic liver cirrhosis | http://www.ebi.ac.uk/efo/EFO_1000802 | http://www.ebi.ac.uk/efo/EFO_0001422 |
renal fibrosis | http://www.ebi.ac.uk/efo/EFO_1001517 | http://www.ebi.ac.uk/efo/EFO_0006890 |
breast fibrosis | http://www.ebi.ac.uk/efo/EFO_1000145 | http://www.ebi.ac.uk/efo/EFO_0006890 |
pulmonary fibrosis | http://www.ebi.ac.uk/efo/EFO_0009448 | http://www.ebi.ac.uk/efo/EFO_0006890 |
postinflammatory pulmonary fibrosis | http://purl.obolibrary.org/obo/MONDO_0001438 | http://www.ebi.ac.uk/efo/EFO_0009448 |
pulmonary fibrosis and/or bone marrow failure, telomere-related | http://purl.obolibrary.org/obo/MONDO_0000148 | http://www.ebi.ac.uk/efo/EFO_0009448 |
pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 | http://www.ebi.ac.uk/efo/EFO_1001501 | http://purl.obolibrary.org/obo/MONDO_0000148 |
pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5 | http://www.ebi.ac.uk/efo/EFO_0010664 | http://purl.obolibrary.org/obo/MONDO_0000148 |
idiopathic pulmonary fibrosis | http://www.ebi.ac.uk/efo/EFO_0000768 | http://www.ebi.ac.uk/efo/EFO_0009448 |
tuberculous fibrosis of lung | http://purl.obolibrary.org/obo/MONDO_0021953 | http://www.ebi.ac.uk/efo/EFO_0009448 |
endomyocardial fibrosis | http://www.ebi.ac.uk/efo/EFO_1000921 | http://www.ebi.ac.uk/efo/EFO_0006890 |
epithelial neoplasm | http://www.ebi.ac.uk/efo/EFO_0006858 | http://www.ebi.ac.uk/efo/EFO_0000616 |
papillary epithelial neoplasm | http://purl.obolibrary.org/obo/MONDO_0021096 | http://www.ebi.ac.uk/efo/EFO_0006858 |
papillary urothelial neoplasm | http://purl.obolibrary.org/obo/MONDO_0003443 | http://purl.obolibrary.org/obo/MONDO_0021096 |
urothelial papilloma | http://purl.obolibrary.org/obo/MONDO_0004041 | http://purl.obolibrary.org/obo/MONDO_0003443 |
inverted urothelial papilloma | http://purl.obolibrary.org/obo/MONDO_0021109 | http://purl.obolibrary.org/obo/MONDO_0004041 |
papilloma | http://purl.obolibrary.org/obo/MONDO_0002363 | http://purl.obolibrary.org/obo/MONDO_0021096 |
transitional cell papilloma | http://www.ebi.ac.uk/efo/EFO_0006497 | http://purl.obolibrary.org/obo/MONDO_0002363 |
inverted transitional cell papilloma | http://purl.obolibrary.org/obo/MONDO_0003064 | http://www.ebi.ac.uk/efo/EFO_0006497 |
glandular papilloma | http://purl.obolibrary.org/obo/MONDO_0021078 | http://purl.obolibrary.org/obo/MONDO_0002363 |
vaginal mullerian papilloma | http://purl.obolibrary.org/obo/MONDO_0001680 | http://purl.obolibrary.org/obo/MONDO_0021078 |
Paranasal Sinus Schneiderian Papilloma | http://www.ebi.ac.uk/efo/EFO_1000455 | http://purl.obolibrary.org/obo/MONDO_0021078 |
squamous papilloma | http://www.ebi.ac.uk/efo/EFO_1001970 | http://purl.obolibrary.org/obo/MONDO_0002363 |
inverted papilloma | http://purl.obolibrary.org/obo/MONDO_0002537 | http://purl.obolibrary.org/obo/MONDO_0002363 |
intraductal papilloma | http://purl.obolibrary.org/obo/MONDO_0002060 | http://purl.obolibrary.org/obo/MONDO_0002363 |
bile duct papillary neoplasm | http://purl.obolibrary.org/obo/MONDO_0003455 | http://purl.obolibrary.org/obo/MONDO_0002060 |
Lung Papilloma | http://www.ebi.ac.uk/efo/EFO_1000335 | http://purl.obolibrary.org/obo/MONDO_0002363 |
papillary adenoma | http://purl.obolibrary.org/obo/MONDO_0002533 | http://purl.obolibrary.org/obo/MONDO_0021096 |
papillary cystadenoma | http://purl.obolibrary.org/obo/MONDO_0021091 | http://purl.obolibrary.org/obo/MONDO_0002533 |
Clear Cell Papillary Cystadenoma | http://www.ebi.ac.uk/efo/EFO_1000181 | http://purl.obolibrary.org/obo/MONDO_0021091 |
Endolymphatic Sac Tumor | http://www.ebi.ac.uk/efo/EFO_1000230 | http://purl.obolibrary.org/obo/MONDO_0021096 |
Papillary Cystic Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000448 | http://purl.obolibrary.org/obo/MONDO_0021096 |
papillary cystadenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000639 | http://www.ebi.ac.uk/efo/EFO_1000448 |
papillary serous cystadenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0002368 | http://www.ebi.ac.uk/efo/EFO_0000639 |
papillary carcinoma | http://www.ebi.ac.uk/efo/EFO_1000646 | http://purl.obolibrary.org/obo/MONDO_0021096 |
papillary adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0002512 | http://www.ebi.ac.uk/efo/EFO_1000646 |
papillary eccrine carcinoma | http://purl.obolibrary.org/obo/MONDO_0003531 | http://purl.obolibrary.org/obo/MONDO_0002512 |
papillary lung adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000046 | http://purl.obolibrary.org/obo/MONDO_0002512 |
papillary thyroid carcinoma | http://www.ebi.ac.uk/efo/EFO_0000641 | http://purl.obolibrary.org/obo/MONDO_0002512 |
papillary follicular thyroid adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001083 | http://www.ebi.ac.uk/efo/EFO_0000641 |
papillary renal cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0000640 | http://purl.obolibrary.org/obo/MONDO_0002512 |
hereditary papillary renal cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0003789 | http://www.ebi.ac.uk/efo/EFO_0000640 |
Gastric Papillary Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000276 | http://purl.obolibrary.org/obo/MONDO_0002512 |
papillary squamous carcinoma | http://purl.obolibrary.org/obo/MONDO_0002979 | http://www.ebi.ac.uk/efo/EFO_1000646 |
verrucous carcinoma | http://www.ebi.ac.uk/efo/EFO_0007535 | http://purl.obolibrary.org/obo/MONDO_0002979 |
Papillary Transitional Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000450 | http://www.ebi.ac.uk/efo/EFO_1000646 |
sympathetic paraganglioma | http://purl.obolibrary.org/obo/MONDO_0021072 | http://www.ebi.ac.uk/efo/EFO_0006858 |
extra-adrenal sympathetic paraganglioma | http://www.ebi.ac.uk/efo/EFO_0000489 | http://purl.obolibrary.org/obo/MONDO_0021072 |
Bladder Paraganglioma | http://www.ebi.ac.uk/efo/EFO_1000128 | http://www.ebi.ac.uk/efo/EFO_0000489 |
Malignant Bladder Paraganglioma | http://www.ebi.ac.uk/efo/EFO_1000349 | http://www.ebi.ac.uk/efo/EFO_0000489 |
adrenal gland pheochromocytoma | http://www.ebi.ac.uk/efo/EFO_0000239 | http://purl.obolibrary.org/obo/MONDO_0021072 |
Benign Adrenal Gland Pheochromocytoma | http://www.ebi.ac.uk/efo/EFO_1000106 | http://www.ebi.ac.uk/efo/EFO_0000239 |
Malignant Adrenal Gland Pheochromocytoma | http://www.ebi.ac.uk/efo/EFO_1000348 | http://www.ebi.ac.uk/efo/EFO_0000239 |
transitional cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0037254 | http://www.ebi.ac.uk/efo/EFO_0006858 |
urothelial neoplasm | http://purl.obolibrary.org/obo/MONDO_0024337 | http://purl.obolibrary.org/obo/MONDO_0037254 |
infiltrating urothelial carcinoma | http://purl.obolibrary.org/obo/MONDO_0040678 | http://purl.obolibrary.org/obo/MONDO_0024337 |
infiltrating bladder urothelial carcinoma | http://purl.obolibrary.org/obo/MONDO_0003890 | http://purl.obolibrary.org/obo/MONDO_0040678 |
Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant | http://www.ebi.ac.uk/efo/EFO_1000303 | http://purl.obolibrary.org/obo/MONDO_0003890 |
Infiltrating Bladder Lymphoepithelioma-Like Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000302 | http://purl.obolibrary.org/obo/MONDO_0003890 |
urinary tract non-invasive transitional cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0003755 | http://purl.obolibrary.org/obo/MONDO_0024337 |
urothelial carcinoma | http://www.ebi.ac.uk/efo/EFO_0008528 | http://purl.obolibrary.org/obo/MONDO_0024337 |
bladder transitional cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0006544 | http://www.ebi.ac.uk/efo/EFO_0008528 |
micropapillary urothelial carcinoma | http://www.ebi.ac.uk/efo/EFO_0008512 | http://www.ebi.ac.uk/efo/EFO_0006544 |
bladder urachal urothelial carcinoma | http://purl.obolibrary.org/obo/MONDO_0004163 | http://www.ebi.ac.uk/efo/EFO_0006544 |
renal pelvis/ureter urothelial carcinoma | http://purl.obolibrary.org/obo/MONDO_0020654 | http://www.ebi.ac.uk/efo/EFO_0008528 |
transitional cell carcinoma of kidney | http://www.ebi.ac.uk/efo/EFO_0003017 | http://purl.obolibrary.org/obo/MONDO_0020654 |
ureter urothelial carcinoma | http://www.ebi.ac.uk/efo/EFO_1001973 | http://www.ebi.ac.uk/efo/EFO_0008528 |
urethra transitional cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0002836 | http://www.ebi.ac.uk/efo/EFO_0008528 |
Urothelial Dysplasia | http://www.ebi.ac.uk/efo/EFO_1000611 | http://purl.obolibrary.org/obo/MONDO_0024337 |
growth hormone-producing pituitary gland neoplasm | http://purl.obolibrary.org/obo/MONDO_0019927 | http://www.ebi.ac.uk/efo/EFO_0006858 |
Growth Hormone-Producing Pituitary Gland Adenoma | http://www.ebi.ac.uk/efo/EFO_1000287 | http://purl.obolibrary.org/obo/MONDO_0019927 |
Familial keratoacanthoma | http://www.orpha.net/ORDO/Orphanet_493 | http://www.ebi.ac.uk/efo/EFO_0006858 |
basal cell neoplasm | http://www.ebi.ac.uk/efo/EFO_1001763 | http://www.ebi.ac.uk/efo/EFO_0006858 |
basal cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0004193 | http://www.ebi.ac.uk/efo/EFO_1001763 |
skin basal cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0005341 | http://www.ebi.ac.uk/efo/EFO_0004193 |
Skin Basosquamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000529 | http://purl.obolibrary.org/obo/MONDO_0005341 |
Salivary Gland Basal Cell Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000515 | http://purl.obolibrary.org/obo/MONDO_0005341 |
intraepithelial neoplasia | http://purl.obolibrary.org/obo/MONDO_0024474 | http://www.ebi.ac.uk/efo/EFO_0006858 |
squamous cell intraepithelial neoplasia | http://purl.obolibrary.org/obo/MONDO_0024475 | http://purl.obolibrary.org/obo/MONDO_0024474 |
conjunctival intraepithelial neoplasm | http://purl.obolibrary.org/obo/MONDO_0003453 | http://purl.obolibrary.org/obo/MONDO_0024475 |
prostate intraepithelial neoplasia | http://www.ebi.ac.uk/efo/EFO_0002621 | http://purl.obolibrary.org/obo/MONDO_0024474 |
Grade III Prostatic Intraepithelial Neoplasia | http://www.ebi.ac.uk/efo/EFO_1000283 | http://www.ebi.ac.uk/efo/EFO_0002621 |
Small Intestinal Intraepithelial Neoplasia | http://www.ebi.ac.uk/efo/EFO_1000536 | http://purl.obolibrary.org/obo/MONDO_0024474 |
epithelial tumor of colon | http://purl.obolibrary.org/obo/MONDO_0024479 | http://www.ebi.ac.uk/efo/EFO_0006858 |
neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor | http://purl.obolibrary.org/obo/MONDO_0015067 | http://purl.obolibrary.org/obo/MONDO_0024479 |
neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade | http://purl.obolibrary.org/obo/MONDO_0015066 | http://purl.obolibrary.org/obo/MONDO_0015067 |
Appendix Neuroendocrine Tumor G1 | http://www.ebi.ac.uk/efo/EFO_1000092 | http://purl.obolibrary.org/obo/MONDO_0015066 |
Colon Neuroendocrine Tumor G1 | http://www.ebi.ac.uk/efo/EFO_1000188 | http://purl.obolibrary.org/obo/MONDO_0015067 |
Ascending Colon Neuroendocrine Tumor G1 | http://www.ebi.ac.uk/efo/EFO_1000094 | http://www.ebi.ac.uk/efo/EFO_1000188 |
Jejunal Neuroendocrine Tumor G1 | http://www.ebi.ac.uk/efo/EFO_1000308 | http://www.ebi.ac.uk/efo/EFO_1000188 |
Ileal Neuroendocrine Tumor G1 | http://www.ebi.ac.uk/efo/EFO_1000300 | http://www.ebi.ac.uk/efo/EFO_1000188 |
Cecum Neuroendocrine Tumor G1 | http://www.ebi.ac.uk/efo/EFO_1000154 | http://www.ebi.ac.uk/efo/EFO_1000188 |
colon carcinoma | http://www.ebi.ac.uk/efo/EFO_1001950 | http://purl.obolibrary.org/obo/MONDO_0024479 |
colon small cell neuroendocrine carcinoma | http://purl.obolibrary.org/obo/MONDO_0003978 | http://www.ebi.ac.uk/efo/EFO_1001950 |
colon adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001949 | http://www.ebi.ac.uk/efo/EFO_1001950 |
colon medullary carcinoma | http://purl.obolibrary.org/obo/MONDO_0000892 | http://www.ebi.ac.uk/efo/EFO_1001949 |
cecum adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000020 | http://www.ebi.ac.uk/efo/EFO_1001949 |
Appendix Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000088 | http://www.ebi.ac.uk/efo/EFO_1000020 |
mucinous adenocarcinoma of the appendix | http://purl.obolibrary.org/obo/MONDO_0018330 | http://www.ebi.ac.uk/efo/EFO_1000088 |
colon mucinous adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000364 | http://www.ebi.ac.uk/efo/EFO_1001949 |
cecum carcinoma | http://www.ebi.ac.uk/efo/EFO_1000021 | http://www.ebi.ac.uk/efo/EFO_1001950 |
carcinoma in situ of cecum | http://purl.obolibrary.org/obo/MONDO_0021289 | http://www.ebi.ac.uk/efo/EFO_1000021 |
appendix carcinoma | http://purl.obolibrary.org/obo/MONDO_0003196 | http://www.ebi.ac.uk/efo/EFO_1000021 |
Appendix Goblet Cell Carcinoid | http://www.ebi.ac.uk/efo/EFO_1000090 | http://purl.obolibrary.org/obo/MONDO_0003196 |
colon carcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0004663 | http://www.ebi.ac.uk/efo/EFO_1001950 |
squamous cell carcinoma of colon | http://purl.obolibrary.org/obo/MONDO_0018513 | http://www.ebi.ac.uk/efo/EFO_1001950 |
colon adenoma | http://purl.obolibrary.org/obo/MONDO_0000527 | http://purl.obolibrary.org/obo/MONDO_0024479 |
villous adenoma of colon | http://purl.obolibrary.org/obo/MONDO_0021271 | http://purl.obolibrary.org/obo/MONDO_0000527 |
Cecum Villous Adenoma | http://www.ebi.ac.uk/efo/EFO_1000155 | http://purl.obolibrary.org/obo/MONDO_0021271 |
Appendix Villous Adenoma | http://www.ebi.ac.uk/efo/EFO_1000093 | http://www.ebi.ac.uk/efo/EFO_1000155 |
Appendix Adenoma | http://www.ebi.ac.uk/efo/EFO_1000089 | http://purl.obolibrary.org/obo/MONDO_0000527 |
Colon Sessile Serrated Adenoma/Polyp | http://www.ebi.ac.uk/efo/EFO_1000189 | http://purl.obolibrary.org/obo/MONDO_0000527 |
adenomatous colon polyp | http://www.ebi.ac.uk/efo/EFO_1000633 | http://purl.obolibrary.org/obo/MONDO_0000527 |
epithelial tumor of the appendix | http://purl.obolibrary.org/obo/MONDO_0018511 | http://purl.obolibrary.org/obo/MONDO_0024479 |
epithelial neoplasm of rectum | http://purl.obolibrary.org/obo/MONDO_0024476 | http://www.ebi.ac.uk/efo/EFO_0006858 |
rectum neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0003646 | http://purl.obolibrary.org/obo/MONDO_0024476 |
rectum malignant melanoma | http://purl.obolibrary.org/obo/MONDO_0002167 | http://purl.obolibrary.org/obo/MONDO_0003646 |
Anal Melanoma | http://www.ebi.ac.uk/efo/EFO_1000080 | http://purl.obolibrary.org/obo/MONDO_0002167 |
rectal carcinoma | http://purl.obolibrary.org/obo/MONDO_0044937 | http://purl.obolibrary.org/obo/MONDO_0024476 |
anal carcinoma | http://purl.obolibrary.org/obo/MONDO_0003199 | http://purl.obolibrary.org/obo/MONDO_0044937 |
Anal Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000081 | http://purl.obolibrary.org/obo/MONDO_0003199 |
anus adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0002652 | http://purl.obolibrary.org/obo/MONDO_0003199 |
rectal adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0005631 | http://purl.obolibrary.org/obo/MONDO_0044937 |
rectum carcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0004725 | http://purl.obolibrary.org/obo/MONDO_0044937 |
squamous cell carcinoma of rectum | http://purl.obolibrary.org/obo/MONDO_0018515 | http://purl.obolibrary.org/obo/MONDO_0044937 |
rectum adenoma | http://purl.obolibrary.org/obo/MONDO_0000530 | http://purl.obolibrary.org/obo/MONDO_0024476 |
Rectal Traditional Serrated Adenoma | http://www.ebi.ac.uk/efo/EFO_1000503 | http://purl.obolibrary.org/obo/MONDO_0000530 |
Rectal Tubulovillous Adenoma | http://www.ebi.ac.uk/efo/EFO_1000505 | http://purl.obolibrary.org/obo/MONDO_0000530 |
Rectal Tubular Adenoma | http://www.ebi.ac.uk/efo/EFO_1000504 | http://purl.obolibrary.org/obo/MONDO_0000530 |
Rectal Villous Adenoma | http://www.ebi.ac.uk/efo/EFO_1000506 | http://purl.obolibrary.org/obo/MONDO_0000530 |
benign epithelial neoplasm | http://purl.obolibrary.org/obo/MONDO_0036976 | http://www.ebi.ac.uk/efo/EFO_0006858 |
parathyroid adenoma | http://www.ebi.ac.uk/efo/EFO_1001087 | http://purl.obolibrary.org/obo/MONDO_0036976 |
familial parathyroid adenoma | http://purl.obolibrary.org/obo/MONDO_0020523 | http://www.ebi.ac.uk/efo/EFO_1001087 |
Familial parathyroid adenoma | http://www.orpha.net/ORDO/Orphanet_99877 | http://www.ebi.ac.uk/efo/EFO_1001087 |
ovarian adenoma benign | http://www.ebi.ac.uk/efo/EFO_0002507 | http://purl.obolibrary.org/obo/MONDO_0036976 |
simple cystadenoma | http://www.ebi.ac.uk/efo/EFO_0002511 | http://www.ebi.ac.uk/efo/EFO_0002507 |
ameloblastoma | http://purl.obolibrary.org/obo/MONDO_0017795 | http://purl.obolibrary.org/obo/MONDO_0036976 |
Desmoplastic Ameloblastoma | http://www.ebi.ac.uk/efo/EFO_1000215 | http://purl.obolibrary.org/obo/MONDO_0017795 |
Plexiform Ameloblastoma | http://www.ebi.ac.uk/efo/EFO_1000487 | http://purl.obolibrary.org/obo/MONDO_0017795 |
benign epithelial skin neoplasm | http://purl.obolibrary.org/obo/MONDO_0024666 | http://purl.obolibrary.org/obo/MONDO_0036976 |
skin hemangioma | http://purl.obolibrary.org/obo/MONDO_0003110 | http://purl.obolibrary.org/obo/MONDO_0024666 |
tufted angioma | http://purl.obolibrary.org/obo/MONDO_0011927 | http://purl.obolibrary.org/obo/MONDO_0003110 |
angiokeratoma | http://purl.obolibrary.org/obo/MONDO_0003143 | http://purl.obolibrary.org/obo/MONDO_0003110 |
skin epithelioid hemangioma | http://www.ebi.ac.uk/efo/EFO_1001424 | http://purl.obolibrary.org/obo/MONDO_0003110 |
angioma serpiginosum | http://purl.obolibrary.org/obo/MONDO_0019803 | http://purl.obolibrary.org/obo/MONDO_0003110 |
Wyburn-Mason syndrome | http://purl.obolibrary.org/obo/MONDO_0018892 | http://purl.obolibrary.org/obo/MONDO_0003110 |
trichoblastoma | http://purl.obolibrary.org/obo/MONDO_0020593 | http://purl.obolibrary.org/obo/MONDO_0024666 |
plantar wart | http://www.ebi.ac.uk/efo/EFO_1002023 | http://purl.obolibrary.org/obo/MONDO_0024666 |
acanthoma | http://purl.obolibrary.org/obo/MONDO_0002093 | http://purl.obolibrary.org/obo/MONDO_0024666 |
pilar sheath acanthoma | http://www.ebi.ac.uk/efo/EFO_1001107 | http://purl.obolibrary.org/obo/MONDO_0002093 |
common wart | http://www.ebi.ac.uk/efo/EFO_0009662 | http://purl.obolibrary.org/obo/MONDO_0024666 |
renal adenoma | http://purl.obolibrary.org/obo/MONDO_0002395 | http://purl.obolibrary.org/obo/MONDO_0036976 |
Metanephric Adenoma | http://www.ebi.ac.uk/efo/EFO_1000373 | http://purl.obolibrary.org/obo/MONDO_0002395 |
mucinous adenofibroma | http://purl.obolibrary.org/obo/MONDO_0002398 | http://purl.obolibrary.org/obo/MONDO_0036976 |
prostatic adenoma | http://purl.obolibrary.org/obo/MONDO_0002450 | http://purl.obolibrary.org/obo/MONDO_0036976 |
adrenocortical adenoma | http://www.ebi.ac.uk/efo/EFO_0003104 | http://purl.obolibrary.org/obo/MONDO_0036976 |
aldosterone-producing adenoma | http://www.ebi.ac.uk/efo/EFO_1000015 | http://www.ebi.ac.uk/efo/EFO_0003104 |
Cortisol-Producing Adrenal Cortex Adenoma | http://www.ebi.ac.uk/efo/EFO_1000208 | http://www.ebi.ac.uk/efo/EFO_0003104 |
Sex Hormone-Producing Adrenal Cortex Adenoma | http://www.ebi.ac.uk/efo/EFO_1000523 | http://www.ebi.ac.uk/efo/EFO_0003104 |
Non-Functioning Adrenal Cortex Adenoma | http://www.ebi.ac.uk/efo/EFO_1000399 | http://www.ebi.ac.uk/efo/EFO_0003104 |
hepatocellular adenoma | http://www.ebi.ac.uk/efo/EFO_0000762 | http://purl.obolibrary.org/obo/MONDO_0036976 |
follicular thyroid adenoma | http://www.ebi.ac.uk/efo/EFO_0000499 | http://purl.obolibrary.org/obo/MONDO_0036976 |
thyroid gland oncocytic adenoma | http://purl.obolibrary.org/obo/MONDO_0004483 | http://www.ebi.ac.uk/efo/EFO_0000499 |
breast adenoma | http://purl.obolibrary.org/obo/MONDO_0002058 | http://purl.obolibrary.org/obo/MONDO_0036976 |
adenoma of nipple | http://purl.obolibrary.org/obo/MONDO_0021301 | http://purl.obolibrary.org/obo/MONDO_0002058 |
breast ductal adenoma | http://purl.obolibrary.org/obo/MONDO_0004270 | http://purl.obolibrary.org/obo/MONDO_0002058 |
lymphangioma | http://purl.obolibrary.org/obo/MONDO_0002013 | http://purl.obolibrary.org/obo/MONDO_0036976 |
lymphangioendothelioma | http://www.ebi.ac.uk/efo/EFO_1001026 | http://purl.obolibrary.org/obo/MONDO_0002013 |
lymphedema-posterior choanal atresia syndrome | http://purl.obolibrary.org/obo/MONDO_0013324 | http://purl.obolibrary.org/obo/MONDO_0002013 |
Gorham-Stout disease | http://purl.obolibrary.org/obo/MONDO_0007414 | http://purl.obolibrary.org/obo/MONDO_0002013 |
common cystic lymphatic malformation | http://purl.obolibrary.org/obo/MONDO_0018720 | http://purl.obolibrary.org/obo/MONDO_0002013 |
cystic lymphangioma | http://www.ebi.ac.uk/efo/EFO_1000888 | http://purl.obolibrary.org/obo/MONDO_0018720 |
Craniopharyngioma | http://www.ebi.ac.uk/efo/EFO_1000209 | http://purl.obolibrary.org/obo/MONDO_0036976 |
hemangioma | http://www.ebi.ac.uk/efo/EFO_1000635 | http://purl.obolibrary.org/obo/MONDO_0036976 |
capillary infantile hemangioma | http://purl.obolibrary.org/obo/MONDO_0011191 | http://www.ebi.ac.uk/efo/EFO_1000635 |
epithelioid hemangioma | http://purl.obolibrary.org/obo/MONDO_0021169 | http://www.ebi.ac.uk/efo/EFO_1000635 |
arteriovenous hemangioma/malformation | http://purl.obolibrary.org/obo/MONDO_0001256 | http://www.ebi.ac.uk/efo/EFO_1000635 |
cerebrofacial arteriovenous metameric syndrome | http://purl.obolibrary.org/obo/MONDO_0015405 | http://purl.obolibrary.org/obo/MONDO_0001256 |
arteriovenous malformations of the brain | http://purl.obolibrary.org/obo/MONDO_0007154 | http://purl.obolibrary.org/obo/MONDO_0001256 |
hemangioma of lung | http://purl.obolibrary.org/obo/MONDO_0003194 | http://www.ebi.ac.uk/efo/EFO_1000635 |
Lung Sclerosing Hemangioma | http://www.ebi.ac.uk/efo/EFO_1000337 | http://purl.obolibrary.org/obo/MONDO_0003194 |
central nervous system hemangioma | http://purl.obolibrary.org/obo/MONDO_0003241 | http://www.ebi.ac.uk/efo/EFO_1000635 |
intracranial hemangioma | http://purl.obolibrary.org/obo/MONDO_0002328 | http://purl.obolibrary.org/obo/MONDO_0003241 |
cerebellar hemangioblastoma | http://purl.obolibrary.org/obo/MONDO_0003901 | http://purl.obolibrary.org/obo/MONDO_0002328 |
acquired hemangioma | http://purl.obolibrary.org/obo/MONDO_0003206 | http://www.ebi.ac.uk/efo/EFO_1000635 |
intra-abdominal hemangioma | http://purl.obolibrary.org/obo/MONDO_0002337 | http://www.ebi.ac.uk/efo/EFO_1000635 |
liver hemangioma | http://purl.obolibrary.org/obo/MONDO_0002404 | http://purl.obolibrary.org/obo/MONDO_0002337 |
capillary hemangioma | http://purl.obolibrary.org/obo/MONDO_0002407 | http://www.ebi.ac.uk/efo/EFO_1000635 |
pyogenic granuloma | http://purl.obolibrary.org/obo/MONDO_0022096 | http://purl.obolibrary.org/obo/MONDO_0002407 |
hemangioblastoma | http://purl.obolibrary.org/obo/MONDO_0016748 | http://purl.obolibrary.org/obo/MONDO_0002407 |
lobular capilliary hemangioma | http://www.ebi.ac.uk/efo/EFO_0010830 | http://purl.obolibrary.org/obo/MONDO_0002407 |
congenital hemangioma | http://purl.obolibrary.org/obo/MONDO_0018715 | http://www.ebi.ac.uk/efo/EFO_1000635 |
infantile hemangioma of rare localization | http://purl.obolibrary.org/obo/MONDO_0016223 | http://www.ebi.ac.uk/efo/EFO_1000635 |
primary intraosseous venous malformation | http://purl.obolibrary.org/obo/MONDO_0011744 | http://purl.obolibrary.org/obo/MONDO_0016223 |
spindle cell hemangioma | http://purl.obolibrary.org/obo/MONDO_0016222 | http://www.ebi.ac.uk/efo/EFO_1000635 |
glabellar hemangioma | http://www.ebi.ac.uk/efo/EFO_0009908 | http://www.ebi.ac.uk/efo/EFO_1000635 |
Cavernous Hemangioma | http://www.ebi.ac.uk/efo/EFO_1000151 | http://www.ebi.ac.uk/efo/EFO_1000635 |
Hemangioma, Cavernous, Central Nervous System | http://www.ebi.ac.uk/efo/EFO_1001343 | http://www.ebi.ac.uk/efo/EFO_1000151 |
Cavernous Hemangioma of the Face | http://www.ebi.ac.uk/efo/EFO_1000152 | http://www.ebi.ac.uk/efo/EFO_1000151 |
Placental Hemangioma | http://www.ebi.ac.uk/efo/EFO_1000480 | http://www.ebi.ac.uk/efo/EFO_1000635 |
hemangioma of subcutaneous tissue | http://www.ebi.ac.uk/efo/EFO_1000707 | http://www.ebi.ac.uk/efo/EFO_1000635 |
Warthin Tumor | http://www.ebi.ac.uk/efo/EFO_1000625 | http://purl.obolibrary.org/obo/MONDO_0036976 |
ovarian epithelial tumor | http://purl.obolibrary.org/obo/MONDO_0002229 | http://www.ebi.ac.uk/efo/EFO_0006858 |
ovarian clear cell tumor | http://purl.obolibrary.org/obo/MONDO_0021144 | http://purl.obolibrary.org/obo/MONDO_0002229 |
ovarian clear cell cancer | http://purl.obolibrary.org/obo/MONDO_0000548 | http://purl.obolibrary.org/obo/MONDO_0021144 |
ovarian clear cell malignant adenofibroma | http://purl.obolibrary.org/obo/MONDO_0003922 | http://purl.obolibrary.org/obo/MONDO_0000548 |
ovarian clear cell adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000042 | http://purl.obolibrary.org/obo/MONDO_0000548 |
ovarian clear cell cystadenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0004222 | http://www.ebi.ac.uk/efo/EFO_1000042 |
ovarian mucinous neoplasm | http://purl.obolibrary.org/obo/MONDO_0003756 | http://purl.obolibrary.org/obo/MONDO_0002229 |
mucinous ovarian cancer | http://purl.obolibrary.org/obo/MONDO_0024282 | http://purl.obolibrary.org/obo/MONDO_0003756 |
ovarian mucinous adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0006462 | http://purl.obolibrary.org/obo/MONDO_0024282 |
ovarian mucinous cystadenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001963 | http://www.ebi.ac.uk/efo/EFO_0006462 |
ovarian serous tumor | http://purl.obolibrary.org/obo/MONDO_0037255 | http://purl.obolibrary.org/obo/MONDO_0002229 |
malignant ovarian serous tumor | http://purl.obolibrary.org/obo/MONDO_0024885 | http://purl.obolibrary.org/obo/MONDO_0037255 |
ovarian serous adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0002917 | http://purl.obolibrary.org/obo/MONDO_0024885 |
high grade ovarian serous adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001958 | http://www.ebi.ac.uk/efo/EFO_0002917 |
ovarian serous cystadenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000043 | http://www.ebi.ac.uk/efo/EFO_0002917 |
Borderline Ovarian Serous Tumor | http://www.ebi.ac.uk/efo/EFO_1000139 | http://purl.obolibrary.org/obo/MONDO_0037255 |
ovarian squamous cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0003495 | http://purl.obolibrary.org/obo/MONDO_0002229 |
Ovarian Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000432 | http://purl.obolibrary.org/obo/MONDO_0003495 |
Borderline Ovarian Surface Epithelial-Stromal Tumor | http://www.ebi.ac.uk/efo/EFO_1000140 | http://purl.obolibrary.org/obo/MONDO_0002229 |
malignant epithelial tumor of ovary | http://purl.obolibrary.org/obo/MONDO_0018364 | http://purl.obolibrary.org/obo/MONDO_0002229 |
hereditary breast ovarian cancer syndrome | http://purl.obolibrary.org/obo/MONDO_0003582 | http://purl.obolibrary.org/obo/MONDO_0018364 |
breast-ovarian cancer, familial, susceptibility to, 1 | http://purl.obolibrary.org/obo/MONDO_0011450 | http://purl.obolibrary.org/obo/MONDO_0003582 |
breast-ovarian cancer, familial, susceptibility to, 2 | http://purl.obolibrary.org/obo/MONDO_0012933 | http://purl.obolibrary.org/obo/MONDO_0003582 |
ovarian endometrial cancer | http://purl.obolibrary.org/obo/MONDO_0003812 | http://purl.obolibrary.org/obo/MONDO_0018364 |
Ovarian Endometrioid Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000416 | http://purl.obolibrary.org/obo/MONDO_0003812 |
Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation | http://www.ebi.ac.uk/efo/EFO_1000417 | http://www.ebi.ac.uk/efo/EFO_1000416 |
Ovarian Carcinosarcoma | http://www.ebi.ac.uk/efo/EFO_1000412 | http://purl.obolibrary.org/obo/MONDO_0003812 |
ovarian carcinoma | http://www.ebi.ac.uk/efo/EFO_0001075 | http://purl.obolibrary.org/obo/MONDO_0018364 |
ovarian adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0006460 | http://www.ebi.ac.uk/efo/EFO_0001075 |
ovarian cystadenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001962 | http://www.ebi.ac.uk/efo/EFO_0006460 |
ovarian large-cell neuroendocrine carcinoma | http://purl.obolibrary.org/obo/MONDO_0003049 | http://www.ebi.ac.uk/efo/EFO_0001075 |
ovarian serous carcinoma | http://www.ebi.ac.uk/efo/EFO_1001516 | http://www.ebi.ac.uk/efo/EFO_0001075 |
familial ovarian carcinoma | http://purl.obolibrary.org/obo/MONDO_0004033 | http://www.ebi.ac.uk/efo/EFO_0001075 |
Ovarian Small Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000431 | http://www.ebi.ac.uk/efo/EFO_0001075 |
Ovarian Transitional Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000435 | http://www.ebi.ac.uk/efo/EFO_0001075 |
Undifferentiated Ovarian Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000605 | http://www.ebi.ac.uk/efo/EFO_0001075 |
myoepithelial tumor | http://purl.obolibrary.org/obo/MONDO_0002380 | http://www.ebi.ac.uk/efo/EFO_0006858 |
malignant myoepithelioma | http://purl.obolibrary.org/obo/MONDO_0003158 | http://purl.obolibrary.org/obo/MONDO_0002380 |
carcinoma ex pleomorphic adenoma | http://purl.obolibrary.org/obo/MONDO_0002472 | http://purl.obolibrary.org/obo/MONDO_0002380 |
Salivary Gland Carcinoma ex Pleomorphic Adenoma | http://www.ebi.ac.uk/efo/EFO_1000516 | http://purl.obolibrary.org/obo/MONDO_0002472 |
Major Salivary Gland Carcinoma ex Pleomorphic Adenoma | http://www.ebi.ac.uk/efo/EFO_1000345 | http://www.ebi.ac.uk/efo/EFO_1000516 |
Parotid Gland Carcinoma ex Pleomorphic Adenoma | http://www.ebi.ac.uk/efo/EFO_1000461 | http://www.ebi.ac.uk/efo/EFO_1000345 |
Parachordoma | http://www.ebi.ac.uk/efo/EFO_1000452 | http://purl.obolibrary.org/obo/MONDO_0002380 |
endometrioid tumor | http://purl.obolibrary.org/obo/MONDO_0002480 | http://www.ebi.ac.uk/efo/EFO_0006858 |
squamous cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0002532 | http://www.ebi.ac.uk/efo/EFO_0006858 |
vaginal squamous tumor | http://purl.obolibrary.org/obo/MONDO_0001806 | http://purl.obolibrary.org/obo/MONDO_0002532 |
Vaginal Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000620 | http://purl.obolibrary.org/obo/MONDO_0001806 |
squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0000707 | http://purl.obolibrary.org/obo/MONDO_0002532 |
squamous cell carcinoma of pancreas | http://purl.obolibrary.org/obo/MONDO_0018521 | http://www.ebi.ac.uk/efo/EFO_0000707 |
pancreatic adenosquamous carcinoma | http://www.ebi.ac.uk/efo/EFO_0006732 | http://purl.obolibrary.org/obo/MONDO_0018521 |
squamous cell carcinoma of liver and intrahepatic biliary tract | http://purl.obolibrary.org/obo/MONDO_0018534 | http://www.ebi.ac.uk/efo/EFO_0000707 |
squamous cell bile duct carcinoma | http://purl.obolibrary.org/obo/MONDO_0003500 | http://purl.obolibrary.org/obo/MONDO_0018534 |
adenosquamous bile duct carcinoma | http://purl.obolibrary.org/obo/MONDO_0003549 | http://purl.obolibrary.org/obo/MONDO_0003500 |
Extrahepatic Bile Duct Adenosquamous Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000247 | http://purl.obolibrary.org/obo/MONDO_0003549 |
Extrahepatic Bile Duct Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000248 | http://purl.obolibrary.org/obo/MONDO_0003500 |
squamous cell carcinoma of gallbladder and extrahepatic biliary tract | http://purl.obolibrary.org/obo/MONDO_0018537 | http://www.ebi.ac.uk/efo/EFO_1000248 |
liver adenosquamous carcinoma | http://purl.obolibrary.org/obo/MONDO_0056815 | http://purl.obolibrary.org/obo/MONDO_0018534 |
Tracheal Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000600 | http://www.ebi.ac.uk/efo/EFO_0000707 |
Vulvar Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000624 | http://www.ebi.ac.uk/efo/EFO_0000707 |
Bartholin Gland Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000104 | http://www.ebi.ac.uk/efo/EFO_1000624 |
squamous cell carcinoma of penis | http://purl.obolibrary.org/obo/MONDO_0018352 | http://www.ebi.ac.uk/efo/EFO_0000707 |
penis carcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0004671 | http://purl.obolibrary.org/obo/MONDO_0018352 |
Thymic Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000579 | http://www.ebi.ac.uk/efo/EFO_0000707 |
Thyroid Gland Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000594 | http://www.ebi.ac.uk/efo/EFO_0000707 |
sarcomatoid squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0021663 | http://www.ebi.ac.uk/efo/EFO_0000707 |
cervical squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_1000172 | http://www.ebi.ac.uk/efo/EFO_0000707 |
Cervical Adenosquamous Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000162 | http://www.ebi.ac.uk/efo/EFO_1000172 |
Colorectal Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000198 | http://www.ebi.ac.uk/efo/EFO_0000707 |
Colorectal Adenosquamous Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000190 | http://www.ebi.ac.uk/efo/EFO_1000198 |
Bladder Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000130 | http://www.ebi.ac.uk/efo/EFO_0000707 |
bladder urachal squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0003714 | http://www.ebi.ac.uk/efo/EFO_1000130 |
Endometrial Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000240 | http://www.ebi.ac.uk/efo/EFO_0000707 |
endometrial adenosquamous carcinoma | http://www.ebi.ac.uk/efo/EFO_1001952 | http://www.ebi.ac.uk/efo/EFO_1000240 |
Gallbladder Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000267 | http://www.ebi.ac.uk/efo/EFO_0000707 |
Gallbladder Adenosquamous Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000264 | http://www.ebi.ac.uk/efo/EFO_1000267 |
Gastric Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000278 | http://www.ebi.ac.uk/efo/EFO_0000707 |
gastric adenosquamous carcinoma | http://www.ebi.ac.uk/efo/EFO_1000029 | http://www.ebi.ac.uk/efo/EFO_1000278 |
head and neck squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0000181 | http://www.ebi.ac.uk/efo/EFO_0000707 |
laryngeal squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0006352 | http://www.ebi.ac.uk/efo/EFO_0000181 |
pharyngeal squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_1001965 | http://www.ebi.ac.uk/efo/EFO_0000181 |
hypopharyngeal squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_1001960 | http://www.ebi.ac.uk/efo/EFO_1001965 |
oropharynx squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0044704 | http://www.ebi.ac.uk/efo/EFO_1001965 |
tonsil squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0000535 | http://purl.obolibrary.org/obo/MONDO_0044704 |
Tonsillar Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000597 | http://purl.obolibrary.org/obo/MONDO_0000535 |
nasal cavity and paranasal sinus squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0044787 | http://www.ebi.ac.uk/efo/EFO_0000181 |
lip and oral cavity squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0044710 | http://www.ebi.ac.uk/efo/EFO_0000181 |
oral squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0000199 | http://purl.obolibrary.org/obo/MONDO_0044710 |
salivary gland squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_1001967 | http://www.ebi.ac.uk/efo/EFO_0000199 |
Parotid Gland Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000463 | http://www.ebi.ac.uk/efo/EFO_1001967 |
Salivary Gland Adenosquamous Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000514 | http://www.ebi.ac.uk/efo/EFO_1001967 |
paranasal sinus squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0044705 | http://www.ebi.ac.uk/efo/EFO_0000181 |
ethmoid sinus squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0002416 | http://purl.obolibrary.org/obo/MONDO_0044705 |
nasal cavity squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_1000057 | http://www.ebi.ac.uk/efo/EFO_0000181 |
nasopharyngeal squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_1000058 | http://www.ebi.ac.uk/efo/EFO_0000181 |
Conjunctival Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000206 | http://www.ebi.ac.uk/efo/EFO_0000181 |
Primary Intraosseous Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000492 | http://www.ebi.ac.uk/efo/EFO_0000181 |
Middle Ear Squamous Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000378 | http://www.ebi.ac.uk/efo/EFO_0000181 |
squamous carcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0004693 | http://www.ebi.ac.uk/efo/EFO_0000707 |
skin squamous cell carcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0020760 | http://purl.obolibrary.org/obo/MONDO_0004693 |
Bowen disease of the skin | http://purl.obolibrary.org/obo/MONDO_0020761 | http://purl.obolibrary.org/obo/MONDO_0020760 |
keratinizing squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0000559 | http://www.ebi.ac.uk/efo/EFO_0000707 |
squamous cell lung carcinoma | http://www.ebi.ac.uk/efo/EFO_0000708 | http://www.ebi.ac.uk/efo/EFO_0000707 |
non-small cell squamous lung carcinoma | http://purl.obolibrary.org/obo/MONDO_0056806 | http://www.ebi.ac.uk/efo/EFO_0000708 |
adenosquamous lung carcinoma | http://www.ebi.ac.uk/efo/EFO_0000233 | http://purl.obolibrary.org/obo/MONDO_0056806 |
urethra squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0002764 | http://www.ebi.ac.uk/efo/EFO_0000707 |
esophageal squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0005922 | http://www.ebi.ac.uk/efo/EFO_0000707 |
esophageal basaloid carcinoma | http://purl.obolibrary.org/obo/MONDO_0004093 | http://www.ebi.ac.uk/efo/EFO_0005922 |
skin squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0002529 | http://www.ebi.ac.uk/efo/EFO_0000707 |
squamous cell breast carcinoma | http://www.ebi.ac.uk/efo/EFO_1000053 | http://www.ebi.ac.uk/efo/EFO_0000707 |
squamous cell breast carcinoma, acantholytic variant | http://www.ebi.ac.uk/efo/EFO_1001969 | http://www.ebi.ac.uk/efo/EFO_1000053 |
Adenosquamous Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000073 | http://www.ebi.ac.uk/efo/EFO_0000707 |
bone squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0000514 | http://www.ebi.ac.uk/efo/EFO_0000707 |
cutaneous squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_1001927 | http://www.ebi.ac.uk/efo/EFO_0000707 |
basaloid squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_1001940 | http://www.ebi.ac.uk/efo/EFO_0000707 |
human papillomavirus-related squamous cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0020657 | http://www.ebi.ac.uk/efo/EFO_0000707 |
vulvar squamous neoplasm | http://purl.obolibrary.org/obo/MONDO_0002195 | http://purl.obolibrary.org/obo/MONDO_0002532 |
vulvar intraepithelial neoplasia | http://www.ebi.ac.uk/efo/EFO_0002627 | http://purl.obolibrary.org/obo/MONDO_0002195 |
Low Grade Vulvar Intraepithelial Neoplasia | http://www.ebi.ac.uk/efo/EFO_1000330 | http://www.ebi.ac.uk/efo/EFO_0002627 |
vulvar seborrheic keratosis | http://www.ebi.ac.uk/efo/EFO_1000779 | http://purl.obolibrary.org/obo/MONDO_0002195 |
vulvar inverted follicular keratosis | http://www.ebi.ac.uk/efo/EFO_1000778 | http://www.ebi.ac.uk/efo/EFO_1000779 |
glandular cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0024276 | http://www.ebi.ac.uk/efo/EFO_0006858 |
serous neoplasm | http://purl.obolibrary.org/obo/MONDO_0037256 | http://purl.obolibrary.org/obo/MONDO_0024276 |
vaginal glandular neoplasm | http://purl.obolibrary.org/obo/MONDO_0001704 | http://purl.obolibrary.org/obo/MONDO_0024276 |
vaginal adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0020653 | http://purl.obolibrary.org/obo/MONDO_0001704 |
Vaginal Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000617 | http://purl.obolibrary.org/obo/MONDO_0020653 |
oncocytic neoplasm | http://purl.obolibrary.org/obo/MONDO_0010795 | http://purl.obolibrary.org/obo/MONDO_0024276 |
oxyphilic adenoma | http://www.ebi.ac.uk/efo/EFO_1001079 | http://purl.obolibrary.org/obo/MONDO_0010795 |
villous adenoma | http://purl.obolibrary.org/obo/MONDO_0000502 | http://purl.obolibrary.org/obo/MONDO_0024276 |
Duodenal Villous Adenoma | http://www.ebi.ac.uk/efo/EFO_1000225 | http://purl.obolibrary.org/obo/MONDO_0000502 |
cystadenoma | http://purl.obolibrary.org/obo/MONDO_0002369 | http://purl.obolibrary.org/obo/MONDO_0024276 |
mucinous cystadenoma | http://www.ebi.ac.uk/efo/EFO_1001048 | http://purl.obolibrary.org/obo/MONDO_0002369 |
serous cystadenoma | http://www.ebi.ac.uk/efo/EFO_0002504 | http://purl.obolibrary.org/obo/MONDO_0002369 |
mucinous neoplasm | http://purl.obolibrary.org/obo/MONDO_0024338 | http://purl.obolibrary.org/obo/MONDO_0024276 |
mucin-producing carcinoma | http://purl.obolibrary.org/obo/MONDO_0020596 | http://purl.obolibrary.org/obo/MONDO_0024338 |
mucinous carcinoma | http://www.ebi.ac.uk/efo/EFO_0000197 | http://purl.obolibrary.org/obo/MONDO_0020596 |
lung colloid adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0027772 | http://www.ebi.ac.uk/efo/EFO_0000197 |
pulmonary mucoepidermoid carcinoma | http://www.ebi.ac.uk/efo/EFO_0006740 | http://purl.obolibrary.org/obo/MONDO_0027772 |
mucinous bronchioloalveolar adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0000894 | http://purl.obolibrary.org/obo/MONDO_0027772 |
mucoepidermoid carcinoma | http://purl.obolibrary.org/obo/MONDO_0003036 | http://www.ebi.ac.uk/efo/EFO_0000197 |
oral cavity mucoepidermoid carcinoma | http://purl.obolibrary.org/obo/MONDO_0044964 | http://purl.obolibrary.org/obo/MONDO_0003036 |
salivary gland mucoepidermoid carcinoma | http://purl.obolibrary.org/obo/MONDO_0021009 | http://purl.obolibrary.org/obo/MONDO_0044964 |
Major Salivary Gland Mucoepidermoid Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000346 | http://purl.obolibrary.org/obo/MONDO_0021009 |
mucoepidermoid carcinoma of submandibular gland | http://purl.obolibrary.org/obo/MONDO_0021279 | http://www.ebi.ac.uk/efo/EFO_1000346 |
mucoepidermoid carcinoma of parotid gland | http://purl.obolibrary.org/obo/MONDO_0021280 | http://www.ebi.ac.uk/efo/EFO_1000346 |
Floor of Mouth Mucoepidermoid Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000260 | http://purl.obolibrary.org/obo/MONDO_0044964 |
Thyroid Gland Mucoepidermoid Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000590 | http://purl.obolibrary.org/obo/MONDO_0003036 |
Acinar Prostate Mucinous Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000065 | http://www.ebi.ac.uk/efo/EFO_0000197 |
cervical mucinous adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0002742 | http://www.ebi.ac.uk/efo/EFO_0000197 |
Cervical Mucinous Adenocarcinoma, Villoglandular Variant | http://www.ebi.ac.uk/efo/EFO_1000170 | http://purl.obolibrary.org/obo/MONDO_0002742 |
Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant | http://www.ebi.ac.uk/efo/EFO_1000169 | http://purl.obolibrary.org/obo/MONDO_0002742 |
Endometrial Mucinous Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000236 | http://www.ebi.ac.uk/efo/EFO_0000197 |
mucinous cystadenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0007378 | http://www.ebi.ac.uk/efo/EFO_0000197 |
Mucinous Gastric Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000386 | http://www.ebi.ac.uk/efo/EFO_0000197 |
adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000228 | http://purl.obolibrary.org/obo/MONDO_0024276 |
mesonephric adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0006719 | http://www.ebi.ac.uk/efo/EFO_0000228 |
sebaceous adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001171 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Ocular Sebaceous Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000405 | http://www.ebi.ac.uk/efo/EFO_1001171 |
tubular adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0006500 | http://www.ebi.ac.uk/efo/EFO_0000228 |
pancreatic tubular adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0006471 | http://www.ebi.ac.uk/efo/EFO_0006500 |
well-differentiated fetal adenocarcinoma of the lung | http://purl.obolibrary.org/obo/MONDO_0017292 | http://www.ebi.ac.uk/efo/EFO_0006500 |
gastric tubular adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000030 | http://www.ebi.ac.uk/efo/EFO_0006500 |
adenocarcinoma of liver and intrahepatic biliary tract | http://purl.obolibrary.org/obo/MONDO_0018532 | http://www.ebi.ac.uk/efo/EFO_0000228 |
bile duct adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0003193 | http://purl.obolibrary.org/obo/MONDO_0018532 |
extrahepatic bile duct adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0002665 | http://purl.obolibrary.org/obo/MONDO_0003193 |
ampulla of Vater adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0008490 | http://purl.obolibrary.org/obo/MONDO_0002665 |
extrahepatic bile duct signet ring cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0002664 | http://purl.obolibrary.org/obo/MONDO_0002665 |
signet ring cell intrahepatic cholangiocarcinoma | http://purl.obolibrary.org/obo/MONDO_0004346 | http://purl.obolibrary.org/obo/MONDO_0002664 |
adenocarcinoma of gallbladder and extrahepatic biliary tract | http://purl.obolibrary.org/obo/MONDO_0018536 | http://purl.obolibrary.org/obo/MONDO_0002665 |
combined hepatocellular carcinoma and cholangiocarcinoma | http://purl.obolibrary.org/obo/MONDO_0044791 | http://purl.obolibrary.org/obo/MONDO_0018536 |
cholangiocarcinoma | http://www.ebi.ac.uk/efo/EFO_0005221 | http://purl.obolibrary.org/obo/MONDO_0018536 |
Klatskin's tumor | http://www.ebi.ac.uk/efo/EFO_1001005 | http://www.ebi.ac.uk/efo/EFO_0005221 |
intrahepatic cholangiocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001961 | http://www.ebi.ac.uk/efo/EFO_0005221 |
hilar cholangiocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001959 | http://www.ebi.ac.uk/efo/EFO_1001961 |
hepatocellular carcinoma | http://www.ebi.ac.uk/efo/EFO_0000182 | http://purl.obolibrary.org/obo/MONDO_0018532 |
hepatocellular clear cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0003243 | http://www.ebi.ac.uk/efo/EFO_0000182 |
hepatitis virus-related hepatocellular carcinoma | http://www.ebi.ac.uk/efo/EFO_0008505 | http://www.ebi.ac.uk/efo/EFO_0000182 |
hepatitis C virus induced hepatocellular carcinoma | http://www.ebi.ac.uk/efo/EFO_0008504 | http://www.ebi.ac.uk/efo/EFO_0008505 |
hepatitis B virus induced hepatocellular carcinoma | http://www.ebi.ac.uk/efo/EFO_0008503 | http://www.ebi.ac.uk/efo/EFO_0008505 |
Fibrolamellar Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000256 | http://www.ebi.ac.uk/efo/EFO_0000182 |
Hepatoblastoma | http://www.ebi.ac.uk/efo/EFO_1000292 | http://www.ebi.ac.uk/efo/EFO_0000182 |
Liver Diffuse Large B-Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000323 | http://www.ebi.ac.uk/efo/EFO_0000182 |
Hepatoid Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000293 | http://purl.obolibrary.org/obo/MONDO_0018532 |
Thyroid Gland Oncocytic Follicular Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000592 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Minor Salivary Gland Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000379 | http://www.ebi.ac.uk/efo/EFO_0000228 |
minor salivary gland adenoid cystic carcinoma | http://purl.obolibrary.org/obo/MONDO_0045068 | http://www.ebi.ac.uk/efo/EFO_1000379 |
Micropapillary Serous Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000377 | http://www.ebi.ac.uk/efo/EFO_0000228 |
small intestinal adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000532 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Duodenal Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000223 | http://www.ebi.ac.uk/efo/EFO_1000532 |
Submandibular Gland Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000554 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Parathyroid Gland Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000456 | http://www.ebi.ac.uk/efo/EFO_0000228 |
diffuse type adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0021652 | http://www.ebi.ac.uk/efo/EFO_0000228 |
diffuse gastric adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000402 | http://purl.obolibrary.org/obo/MONDO_0021652 |
hereditary diffuse gastric adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0007648 | http://www.ebi.ac.uk/efo/EFO_0000402 |
Familial gastric cancer | http://www.orpha.net/ORDO/Orphanet_26106 | http://purl.obolibrary.org/obo/MONDO_0007648 |
Poorly Differentiated Thyroid Gland Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000489 | http://www.ebi.ac.uk/efo/EFO_0000228 |
poorly differentiated follicular thyroid carcinoma | http://www.ebi.ac.uk/efo/EFO_1002016 | http://www.ebi.ac.uk/efo/EFO_1000489 |
scirrhous adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0007478 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Bladder Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000125 | http://www.ebi.ac.uk/efo/EFO_0000228 |
bladder urachal adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0004331 | http://www.ebi.ac.uk/efo/EFO_1000125 |
bladder mixed adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0004458 | http://www.ebi.ac.uk/efo/EFO_1000125 |
Intestinal Type Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000304 | http://www.ebi.ac.uk/efo/EFO_0000228 |
gastric intestinal type adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000504 | http://www.ebi.ac.uk/efo/EFO_1000304 |
Follicular Variant Thyroid Gland Papillary Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000261 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Gallbladder Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000262 | http://www.ebi.ac.uk/efo/EFO_0000228 |
breast adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000304 | http://www.ebi.ac.uk/efo/EFO_0000228 |
breast ductal adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0006318 | http://www.ebi.ac.uk/efo/EFO_0000304 |
breast ductal carcinoma in situ | http://www.ebi.ac.uk/efo/EFO_0000432 | http://www.ebi.ac.uk/efo/EFO_0006318 |
invasive breast ductal carcinoma | http://www.ebi.ac.uk/efo/EFO_0000186 | http://www.ebi.ac.uk/efo/EFO_0006318 |
acinic cell breast carcinoma | http://purl.obolibrary.org/obo/MONDO_0003624 | http://www.ebi.ac.uk/efo/EFO_0000186 |
pleomorphic breast carcinoma | http://www.ebi.ac.uk/efo/EFO_1000047 | http://www.ebi.ac.uk/efo/EFO_0000186 |
medullary breast carcinoma | http://www.ebi.ac.uk/efo/EFO_0000580 | http://www.ebi.ac.uk/efo/EFO_0000186 |
invasive breast ductal and lobular carcinoma | http://www.ebi.ac.uk/efo/EFO_0000552 | http://www.ebi.ac.uk/efo/EFO_0000186 |
basal-like breast carcinoma | http://www.ebi.ac.uk/efo/EFO_0000281 | http://www.ebi.ac.uk/efo/EFO_0000186 |
lobular breast carcinoma | http://www.ebi.ac.uk/efo/EFO_0008509 | http://www.ebi.ac.uk/efo/EFO_0000304 |
invasive lobular carcinoma | http://www.ebi.ac.uk/efo/EFO_0000553 | http://www.ebi.ac.uk/efo/EFO_0008509 |
Adenoid Cystic Breast Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000071 | http://www.ebi.ac.uk/efo/EFO_0000304 |
Mixed Lobular and Ductal Breast Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000382 | http://www.ebi.ac.uk/efo/EFO_0000304 |
Lobular Breast Carcinoma In Situ | http://www.ebi.ac.uk/efo/EFO_1000326 | http://www.ebi.ac.uk/efo/EFO_0000304 |
inflammatory breast carcinoma | http://www.ebi.ac.uk/efo/EFO_1000984 | http://www.ebi.ac.uk/efo/EFO_0000304 |
clear cell adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000348 | http://www.ebi.ac.uk/efo/EFO_0000228 |
clear cell renal carcinoma | http://www.ebi.ac.uk/efo/EFO_0000349 | http://www.ebi.ac.uk/efo/EFO_0000348 |
hereditary clear cell renal cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0018492 | http://www.ebi.ac.uk/efo/EFO_0000349 |
Endometrial Clear Cell Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000231 | http://www.ebi.ac.uk/efo/EFO_0000348 |
Hidradenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000295 | http://www.ebi.ac.uk/efo/EFO_0000348 |
Cervical Clear Cell Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000163 | http://www.ebi.ac.uk/efo/EFO_0000348 |
colorectal adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000365 | http://www.ebi.ac.uk/efo/EFO_0000228 |
colorectal mucinous adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0009361 | http://www.ebi.ac.uk/efo/EFO_0000365 |
Colorectal Serrated Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000196 | http://www.ebi.ac.uk/efo/EFO_0000365 |
colorectal medullary carcinoma | http://purl.obolibrary.org/obo/MONDO_0020794 | http://www.ebi.ac.uk/efo/EFO_0000365 |
rectosigmoid adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001966 | http://www.ebi.ac.uk/efo/EFO_0000365 |
acinar cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0000216 | http://www.ebi.ac.uk/efo/EFO_0000228 |
prostatic acinar adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0002493 | http://www.ebi.ac.uk/efo/EFO_0000216 |
Acinar Prostate Adenocarcinoma, Foamy Gland Variant | http://www.ebi.ac.uk/efo/EFO_1000064 | http://purl.obolibrary.org/obo/MONDO_0002493 |
Parotid Gland Acinic Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000458 | http://www.ebi.ac.uk/efo/EFO_0000216 |
Pancreatic Acinar Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000439 | http://www.ebi.ac.uk/efo/EFO_0000216 |
Salivary Gland Acinic Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000513 | http://www.ebi.ac.uk/efo/EFO_0000216 |
adenoid cystic carcinoma | http://www.ebi.ac.uk/efo/EFO_0000231 | http://www.ebi.ac.uk/efo/EFO_0000228 |
adenoid cystic carcinoma of oropharynx | http://purl.obolibrary.org/obo/MONDO_0021300 | http://www.ebi.ac.uk/efo/EFO_0000231 |
lung adenoid cystic carcinoma | http://purl.obolibrary.org/obo/MONDO_0003181 | http://www.ebi.ac.uk/efo/EFO_0000231 |
cutaneous adenocystic carcinoma | http://purl.obolibrary.org/obo/MONDO_0003180 | http://www.ebi.ac.uk/efo/EFO_0000231 |
salivary gland adenoid cystic carcinoma | http://purl.obolibrary.org/obo/MONDO_0003175 | http://www.ebi.ac.uk/efo/EFO_0000231 |
major salivary gland adenoid cystic carcinoma | http://purl.obolibrary.org/obo/MONDO_0045063 | http://purl.obolibrary.org/obo/MONDO_0003175 |
Parotid Gland Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000459 | http://purl.obolibrary.org/obo/MONDO_0045063 |
Submandibular Gland Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000555 | http://purl.obolibrary.org/obo/MONDO_0045063 |
adenoid cystic carcinoma of the cervix uteri | http://purl.obolibrary.org/obo/MONDO_0016286 | http://www.ebi.ac.uk/efo/EFO_0000231 |
Cervical Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000161 | http://purl.obolibrary.org/obo/MONDO_0016286 |
Pharyngeal Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000472 | http://www.ebi.ac.uk/efo/EFO_0000231 |
Paranasal Sinus Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000454 | http://www.ebi.ac.uk/efo/EFO_0000231 |
Ethmoid Sinus Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000246 | http://www.ebi.ac.uk/efo/EFO_1000454 |
Maxillary Sinus Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000365 | http://www.ebi.ac.uk/efo/EFO_1000454 |
Lacrimal Gland Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000317 | http://www.ebi.ac.uk/efo/EFO_0000231 |
Laryngeal Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000319 | http://www.ebi.ac.uk/efo/EFO_0000231 |
Tracheal Adenoid Cystic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000598 | http://www.ebi.ac.uk/efo/EFO_0000231 |
gastric adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000503 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Signet Ring Cell Gastric Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000524 | http://www.ebi.ac.uk/efo/EFO_0000503 |
lung adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000571 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Lung Signet Ring Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000338 | http://www.ebi.ac.uk/efo/EFO_0000571 |
bronchoalveolar adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000308 | http://www.ebi.ac.uk/efo/EFO_0000571 |
lung combined type small cell adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0000532 | http://www.ebi.ac.uk/efo/EFO_0000571 |
bronchioloalveolar carcinoma | http://www.ebi.ac.uk/efo/EFO_1001941 | http://www.ebi.ac.uk/efo/EFO_0000571 |
acinar lung adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0003892 | http://www.ebi.ac.uk/efo/EFO_0000571 |
adenocarcinoma of cervix uteri | http://purl.obolibrary.org/obo/MONDO_0016275 | http://www.ebi.ac.uk/efo/EFO_0000228 |
cervical adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0001416 | http://purl.obolibrary.org/obo/MONDO_0016275 |
Cervical Endometrioid Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000164 | http://www.ebi.ac.uk/efo/EFO_0001416 |
Cervical Intraepithelial Neoplasia Grade 2/3 | http://www.ebi.ac.uk/efo/EFO_1000166 | http://www.ebi.ac.uk/efo/EFO_0001416 |
Cervical Metaplasia | http://www.ebi.ac.uk/efo/EFO_1000168 | http://www.ebi.ac.uk/efo/EFO_0001416 |
esophageal adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000478 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Barrett adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001939 | http://www.ebi.ac.uk/efo/EFO_0000478 |
endometrioid carcinoma | http://www.ebi.ac.uk/efo/EFO_0000466 | http://www.ebi.ac.uk/efo/EFO_0000228 |
endometrial endometrioid carcinoma | http://www.ebi.ac.uk/efo/EFO_1001514 | http://www.ebi.ac.uk/efo/EFO_0000466 |
ovarian endometrioid carcinoma | http://www.ebi.ac.uk/efo/EFO_1001515 | http://www.ebi.ac.uk/efo/EFO_0000466 |
stage I endometrioid carcinoma | http://www.ebi.ac.uk/efo/EFO_0000205 | http://www.ebi.ac.uk/efo/EFO_0000466 |
stage II endometrioid carcinoma | http://www.ebi.ac.uk/efo/EFO_0000206 | http://www.ebi.ac.uk/efo/EFO_0000466 |
Endometrial Endometrioid Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000233 | http://www.ebi.ac.uk/efo/EFO_0000466 |
endometrial endometrioid adenocarcinoma, variant with squamous differentiation | http://www.ebi.ac.uk/efo/EFO_1001953 | http://www.ebi.ac.uk/efo/EFO_1000233 |
prostate adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0000673 | http://www.ebi.ac.uk/efo/EFO_0000228 |
signet ring cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0000698 | http://www.ebi.ac.uk/efo/EFO_0000228 |
renal cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0000681 | http://www.ebi.ac.uk/efo/EFO_0000228 |
cystic renal cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0006388 | http://www.ebi.ac.uk/efo/EFO_0000681 |
nonpapillary renal cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0007763 | http://www.ebi.ac.uk/efo/EFO_0000681 |
collecting duct carcinoma | http://www.ebi.ac.uk/efo/EFO_0003016 | http://www.ebi.ac.uk/efo/EFO_0000681 |
renal cell adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0005708 | http://www.ebi.ac.uk/efo/EFO_0000681 |
hereditary renal cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0003008 | http://www.ebi.ac.uk/efo/EFO_0005708 |
adrenocortical carcinoma, hereditary | http://purl.obolibrary.org/obo/MONDO_0008734 | http://purl.obolibrary.org/obo/MONDO_0003008 |
chromophobe renal cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0000335 | http://www.ebi.ac.uk/efo/EFO_0005708 |
Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions | http://www.ebi.ac.uk/efo/EFO_1000508 | http://www.ebi.ac.uk/efo/EFO_0005708 |
Unclassified Renal Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000603 | http://www.ebi.ac.uk/efo/EFO_0005708 |
Kidney Medullary Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000314 | http://www.ebi.ac.uk/efo/EFO_0000681 |
adrenal cortex carcinoma | http://www.ebi.ac.uk/efo/EFO_1000796 | http://www.ebi.ac.uk/efo/EFO_0000681 |
fallopian tube adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0002746 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Fallopian Tube Serous Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000253 | http://purl.obolibrary.org/obo/MONDO_0002746 |
lacrimal gland adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0002475 | http://www.ebi.ac.uk/efo/EFO_0000228 |
serous adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0003825 | http://www.ebi.ac.uk/efo/EFO_0000228 |
serous cystadenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0024621 | http://www.ebi.ac.uk/efo/EFO_0003825 |
Endometrial Serous Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000238 | http://www.ebi.ac.uk/efo/EFO_0003825 |
Primary Peritoneal Serous Adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000494 | http://www.ebi.ac.uk/efo/EFO_0003825 |
pancreatic adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000044 | http://www.ebi.ac.uk/efo/EFO_0000228 |
pancreatic ductal adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0002517 | http://www.ebi.ac.uk/efo/EFO_1000044 |
Undifferentiated Pancreatic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000606 | http://www.ebi.ac.uk/efo/EFO_0002517 |
Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells | http://www.ebi.ac.uk/efo/EFO_1000607 | http://www.ebi.ac.uk/efo/EFO_1000606 |
endometrium adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0005232 | http://www.ebi.ac.uk/efo/EFO_0000228 |
endometrial mixed adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0004321 | http://www.ebi.ac.uk/efo/EFO_0005232 |
non-small cell lung adenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0005288 | http://www.ebi.ac.uk/efo/EFO_0000228 |
thyroid gland adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0024622 | http://www.ebi.ac.uk/efo/EFO_0000228 |
follicular thyroid carcinoma | http://www.ebi.ac.uk/efo/EFO_0000501 | http://purl.obolibrary.org/obo/MONDO_0024622 |
medullary thyroid gland carcinoma | http://purl.obolibrary.org/obo/MONDO_0015277 | http://www.ebi.ac.uk/efo/EFO_0000501 |
Familial medullary thyroid carcinoma | http://www.orpha.net/ORDO/Orphanet_99361 | http://www.ebi.ac.uk/efo/EFO_0000501 |
sweat gland carcinoma | http://www.ebi.ac.uk/efo/EFO_0005591 | http://www.ebi.ac.uk/efo/EFO_0000228 |
apocrine adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0003214 | http://www.ebi.ac.uk/efo/EFO_0005591 |
eccrine carcinoma | http://purl.obolibrary.org/obo/MONDO_0024240 | http://www.ebi.ac.uk/efo/EFO_0005591 |
Eccrine Porocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000229 | http://purl.obolibrary.org/obo/MONDO_0024240 |
villous adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0003204 | http://www.ebi.ac.uk/efo/EFO_0000228 |
urethra adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0003200 | http://www.ebi.ac.uk/efo/EFO_0000228 |
adenocarcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0003218 | http://www.ebi.ac.uk/efo/EFO_0000228 |
gastroesophageal junction adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0003219 | http://www.ebi.ac.uk/efo/EFO_0000228 |
granular cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0003197 | http://www.ebi.ac.uk/efo/EFO_0000228 |
pituitary adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0017582 | http://www.ebi.ac.uk/efo/EFO_0000228 |
ACTH-Producing Pituitary Gland Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000067 | http://purl.obolibrary.org/obo/MONDO_0017582 |
Prolactin-Producing Pituitary Gland Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000497 | http://purl.obolibrary.org/obo/MONDO_0017582 |
cystadenocarcinoma | http://www.ebi.ac.uk/efo/EFO_0006387 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Paget disease | http://purl.obolibrary.org/obo/MONDO_0021165 | http://www.ebi.ac.uk/efo/EFO_0000228 |
Extramammary Paget Disease | http://www.ebi.ac.uk/efo/EFO_1000249 | http://purl.obolibrary.org/obo/MONDO_0021165 |
Wolffian adnexal tumor | http://purl.obolibrary.org/obo/MONDO_0004255 | http://www.ebi.ac.uk/efo/EFO_0006858 |
adenoma | http://www.ebi.ac.uk/efo/EFO_0000232 | http://www.ebi.ac.uk/efo/EFO_0006858 |
sweat gland adenoma | http://purl.obolibrary.org/obo/MONDO_0021110 | http://www.ebi.ac.uk/efo/EFO_0000232 |
hidradenoma | http://purl.obolibrary.org/obo/MONDO_0002805 | http://purl.obolibrary.org/obo/MONDO_0021110 |
papillary hidradenoma | http://purl.obolibrary.org/obo/MONDO_0003446 | http://purl.obolibrary.org/obo/MONDO_0002805 |
Syringocystadenoma Papilliferum | http://www.ebi.ac.uk/efo/EFO_1000558 | http://purl.obolibrary.org/obo/MONDO_0021110 |
tubular adenoma | http://purl.obolibrary.org/obo/MONDO_0024660 | http://www.ebi.ac.uk/efo/EFO_0000232 |
Small Intestinal Tubular Adenoma | http://www.ebi.ac.uk/efo/EFO_1000538 | http://purl.obolibrary.org/obo/MONDO_0024660 |
tubulovillous adenoma | http://purl.obolibrary.org/obo/MONDO_0024661 | http://www.ebi.ac.uk/efo/EFO_0000232 |
colorectal tubulovillous adenoma | http://purl.obolibrary.org/obo/MONDO_0024662 | http://purl.obolibrary.org/obo/MONDO_0024661 |
Small Intestinal Tubulovillous Adenoma | http://www.ebi.ac.uk/efo/EFO_1000539 | http://purl.obolibrary.org/obo/MONDO_0024661 |
sebaceous adenoma | http://purl.obolibrary.org/obo/MONDO_0002375 | http://www.ebi.ac.uk/efo/EFO_0000232 |
thyroid adenoma | http://purl.obolibrary.org/obo/MONDO_0002454 | http://www.ebi.ac.uk/efo/EFO_0000232 |
Digestive System Adenoma | http://www.ebi.ac.uk/efo/EFO_1000217 | http://www.ebi.ac.uk/efo/EFO_0000232 |
adenoma of small intestine | http://purl.obolibrary.org/obo/MONDO_0021303 | http://www.ebi.ac.uk/efo/EFO_1000217 |
sessile serrated polyp | http://www.ebi.ac.uk/efo/EFO_0008523 | http://www.ebi.ac.uk/efo/EFO_1000217 |
colorectal adenoma | http://www.ebi.ac.uk/efo/EFO_0005406 | http://www.ebi.ac.uk/efo/EFO_1000217 |
Colorectal Sessile Serrated Adenoma/Polyp | http://www.ebi.ac.uk/efo/EFO_1000197 | http://www.ebi.ac.uk/efo/EFO_0005406 |
Gallbladder Adenoma | http://www.ebi.ac.uk/efo/EFO_1000263 | http://www.ebi.ac.uk/efo/EFO_1000217 |
Gastric Adenoma | http://www.ebi.ac.uk/efo/EFO_1000268 | http://www.ebi.ac.uk/efo/EFO_1000217 |
Pyloric Gland Adenoma | http://www.ebi.ac.uk/efo/EFO_1000501 | http://www.ebi.ac.uk/efo/EFO_1000268 |
Bile Duct Adenoma | http://www.ebi.ac.uk/efo/EFO_1000123 | http://www.ebi.ac.uk/efo/EFO_1000217 |
Pituitary Gland Adenoma | http://www.ebi.ac.uk/efo/EFO_1000478 | http://www.ebi.ac.uk/efo/EFO_0000232 |
familial isolated pituitary adenoma | http://purl.obolibrary.org/obo/MONDO_0017824 | http://www.ebi.ac.uk/efo/EFO_1000478 |
Prolactin-Producing Pituitary Gland Adenoma | http://www.ebi.ac.uk/efo/EFO_1000496 | http://purl.obolibrary.org/obo/MONDO_0017824 |
functioning pituitary gland adenoma | http://purl.obolibrary.org/obo/MONDO_0003429 | http://www.ebi.ac.uk/efo/EFO_1000478 |
TSH producing pituitary tumor | http://purl.obolibrary.org/obo/MONDO_0003837 | http://purl.obolibrary.org/obo/MONDO_0003429 |
TSH-secreting pituitary adenoma | http://purl.obolibrary.org/obo/MONDO_0019611 | http://purl.obolibrary.org/obo/MONDO_0003837 |
non-functioning pituitary adenoma | http://www.ebi.ac.uk/efo/EFO_0008516 | http://www.ebi.ac.uk/efo/EFO_1000478 |
ACTH-Producing Pituitary Gland Adenoma | http://www.ebi.ac.uk/efo/EFO_1000066 | http://www.ebi.ac.uk/efo/EFO_1000478 |
acidophil adenoma | http://www.ebi.ac.uk/efo/EFO_1000791 | http://www.ebi.ac.uk/efo/EFO_1000478 |
chromophobe adenoma | http://www.ebi.ac.uk/efo/EFO_1000867 | http://www.ebi.ac.uk/efo/EFO_1000478 |
basophil adenoma | http://www.ebi.ac.uk/efo/EFO_1000834 | http://www.ebi.ac.uk/efo/EFO_1000478 |
Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma | http://www.ebi.ac.uk/efo/EFO_1000383 | http://www.ebi.ac.uk/efo/EFO_0000232 |
carcinoma | http://www.ebi.ac.uk/efo/EFO_0000313 | http://www.ebi.ac.uk/efo/EFO_0006858 |
undifferentiated carcinoma | http://www.ebi.ac.uk/efo/EFO_0006772 | http://www.ebi.ac.uk/efo/EFO_0000313 |
NUT midline carcinoma | http://www.ebi.ac.uk/efo/EFO_0005783 | http://www.ebi.ac.uk/efo/EFO_0006772 |
Endometrial Undifferentiated Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000242 | http://www.ebi.ac.uk/efo/EFO_0006772 |
Sinonasal Undifferentiated Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000527 | http://www.ebi.ac.uk/efo/EFO_0006772 |
Salivary Gland Large Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000517 | http://www.ebi.ac.uk/efo/EFO_0006772 |
Thyroid Gland Undifferentiated (Anaplastic) Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000595 | http://www.ebi.ac.uk/efo/EFO_0006772 |
Thymic Undifferentiated Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000580 | http://www.ebi.ac.uk/efo/EFO_0006772 |
Undifferentiated Gallbladder Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000604 | http://www.ebi.ac.uk/efo/EFO_0006772 |
undifferentiated carcinoma of liver and intrahepatic biliary tract | http://purl.obolibrary.org/obo/MONDO_0018533 | http://www.ebi.ac.uk/efo/EFO_0006772 |
skin carcinoma | http://www.ebi.ac.uk/efo/EFO_0009259 | http://www.ebi.ac.uk/efo/EFO_0000313 |
skin appendage carcinoma | http://www.ebi.ac.uk/efo/EFO_1001183 | http://www.ebi.ac.uk/efo/EFO_0009259 |
skin carcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0004641 | http://www.ebi.ac.uk/efo/EFO_0009259 |
non-melanoma skin carcinoma | http://www.ebi.ac.uk/efo/EFO_0009260 | http://www.ebi.ac.uk/efo/EFO_0009259 |
keratinocyte carcinoma | http://www.ebi.ac.uk/efo/EFO_0010176 | http://www.ebi.ac.uk/efo/EFO_0009260 |
Transitional Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000601 | http://www.ebi.ac.uk/efo/EFO_0000313 |
sarcomatoid transitional cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0002837 | http://www.ebi.ac.uk/efo/EFO_1000601 |
Ureter Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000609 | http://www.ebi.ac.uk/efo/EFO_0000313 |
Ureter Small Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000610 | http://www.ebi.ac.uk/efo/EFO_1000609 |
Thymic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000576 | http://www.ebi.ac.uk/efo/EFO_0000313 |
thymic neuroendocrine carcinoma | http://purl.obolibrary.org/obo/MONDO_0020516 | http://www.ebi.ac.uk/efo/EFO_1000576 |
Thymic Small Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000578 | http://purl.obolibrary.org/obo/MONDO_0020516 |
Thymic Sarcomatoid Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000577 | http://www.ebi.ac.uk/efo/EFO_1000576 |
Tracheal Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000599 | http://www.ebi.ac.uk/efo/EFO_0000313 |
Lymphangiosarcoma | http://www.ebi.ac.uk/efo/EFO_1000339 | http://www.ebi.ac.uk/efo/EFO_0000313 |
Sarcomatoid Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000520 | http://www.ebi.ac.uk/efo/EFO_0000313 |
Lung Sarcomatoid Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000336 | http://www.ebi.ac.uk/efo/EFO_1000520 |
pulmonary blastoma | http://www.ebi.ac.uk/efo/EFO_0007458 | http://www.ebi.ac.uk/efo/EFO_1000336 |
pleuropulmonary blastoma | http://purl.obolibrary.org/obo/MONDO_0011014 | http://www.ebi.ac.uk/efo/EFO_0007458 |
Lung Giant Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000332 | http://www.ebi.ac.uk/efo/EFO_1000336 |
combined carcinoid and adenocarcinoma | http://purl.obolibrary.org/obo/MONDO_0021659 | http://www.ebi.ac.uk/efo/EFO_0000313 |
Penile Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000465 | http://www.ebi.ac.uk/efo/EFO_0000313 |
sex cord-gonadal stromal tumor | http://www.ebi.ac.uk/efo/EFO_0007483 | http://www.ebi.ac.uk/efo/EFO_0000313 |
mixed cell type cancer | http://www.ebi.ac.uk/efo/EFO_0007373 | http://www.ebi.ac.uk/efo/EFO_0000313 |
Mixed Tumor, Mesodermal | http://www.ebi.ac.uk/efo/EFO_1001371 | http://www.ebi.ac.uk/efo/EFO_0007373 |
Basaloid Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000105 | http://www.ebi.ac.uk/efo/EFO_0000313 |
basaloid large cell lung carcinoma | http://purl.obolibrary.org/obo/MONDO_0004087 | http://www.ebi.ac.uk/efo/EFO_1000105 |
Cribriform Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000210 | http://www.ebi.ac.uk/efo/EFO_0000313 |
salivary duct carcinoma | http://purl.obolibrary.org/obo/MONDO_0044915 | http://www.ebi.ac.uk/efo/EFO_1000210 |
Digestive System Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000218 | http://www.ebi.ac.uk/efo/EFO_0000313 |
maxillary sinus carcinoma | http://purl.obolibrary.org/obo/MONDO_0001748 | http://www.ebi.ac.uk/efo/EFO_1000218 |
carcinoma of floor of mouth | http://purl.obolibrary.org/obo/MONDO_0021343 | http://www.ebi.ac.uk/efo/EFO_1000218 |
carcinoma of pharynx | http://purl.obolibrary.org/obo/MONDO_0021345 | http://www.ebi.ac.uk/efo/EFO_1000218 |
oropharyngeal carcinoma | http://purl.obolibrary.org/obo/MONDO_0044926 | http://purl.obolibrary.org/obo/MONDO_0021345 |
tonsil carcinoma | http://purl.obolibrary.org/obo/MONDO_0021337 | http://purl.obolibrary.org/obo/MONDO_0044926 |
hypopharyngeal carcinoma | http://www.ebi.ac.uk/efo/EFO_0002938 | http://purl.obolibrary.org/obo/MONDO_0021345 |
oral cavity carcinoma | http://purl.obolibrary.org/obo/MONDO_0044925 | http://www.ebi.ac.uk/efo/EFO_1000218 |
salivary gland carcinoma | http://purl.obolibrary.org/obo/MONDO_0000521 | http://purl.obolibrary.org/obo/MONDO_0044925 |
minor salivary gland carcinoma | http://purl.obolibrary.org/obo/MONDO_0045069 | http://purl.obolibrary.org/obo/MONDO_0000521 |
Salivary Gland Small Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000519 | http://purl.obolibrary.org/obo/MONDO_0000521 |
Major Salivary Gland Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000344 | http://purl.obolibrary.org/obo/MONDO_0000521 |
submandibular gland cancer | http://purl.obolibrary.org/obo/MONDO_0004724 | http://www.ebi.ac.uk/efo/EFO_1000344 |
Parotid Gland Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000460 | http://www.ebi.ac.uk/efo/EFO_1000344 |
gallbladder carcinoma | http://www.ebi.ac.uk/efo/EFO_1001956 | http://www.ebi.ac.uk/efo/EFO_1000218 |
Gallbladder Small Cell Neuroendocrine Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000266 | http://www.ebi.ac.uk/efo/EFO_1001956 |
colorectal carcinoma | http://www.ebi.ac.uk/efo/EFO_1001951 | http://www.ebi.ac.uk/efo/EFO_1000218 |
small intestine carcinoma | http://www.ebi.ac.uk/efo/EFO_0005588 | http://www.ebi.ac.uk/efo/EFO_1000218 |
carcinoma of duodenum | http://purl.obolibrary.org/obo/MONDO_0021335 | http://www.ebi.ac.uk/efo/EFO_0005588 |
Ampulla of Vater Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000079 | http://purl.obolibrary.org/obo/MONDO_0021335 |
Ameloblastic Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000078 | http://www.ebi.ac.uk/efo/EFO_1000218 |
esophageal carcinoma | http://www.ebi.ac.uk/efo/EFO_0002916 | http://www.ebi.ac.uk/efo/EFO_1000218 |
esophageal small cell neuroendocrine carcinoma | http://purl.obolibrary.org/obo/MONDO_0004116 | http://www.ebi.ac.uk/efo/EFO_0002916 |
pancreatic carcinoma | http://www.ebi.ac.uk/efo/EFO_0002618 | http://www.ebi.ac.uk/efo/EFO_1000218 |
familial pancreatic carcinoma | http://purl.obolibrary.org/obo/MONDO_0015278 | http://www.ebi.ac.uk/efo/EFO_0002618 |
pancreatic carcinoma with mixed differentiation | http://purl.obolibrary.org/obo/MONDO_0044727 | http://www.ebi.ac.uk/efo/EFO_0002618 |
Pancreatic Large Cell Neuroendocrine Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000442 | http://www.ebi.ac.uk/efo/EFO_0002618 |
intestine carcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0004698 | http://www.ebi.ac.uk/efo/EFO_1000218 |
gastric carcinoma | http://www.ebi.ac.uk/efo/EFO_0000178 | http://www.ebi.ac.uk/efo/EFO_1000218 |
gastric cardia carcinoma | http://www.ebi.ac.uk/efo/EFO_1001252 | http://www.ebi.ac.uk/efo/EFO_0000178 |
gastric non-cardia carcinoma | http://www.ebi.ac.uk/efo/EFO_0008502 | http://www.ebi.ac.uk/efo/EFO_0000178 |
Gastric Small Cell Neuroendocrine Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000277 | http://www.ebi.ac.uk/efo/EFO_0000178 |
hereditary gastric cancer | http://purl.obolibrary.org/obo/MONDO_0018502 | http://www.ebi.ac.uk/efo/EFO_0000178 |
gastric lymphoma | http://purl.obolibrary.org/obo/MONDO_0001059 | http://purl.obolibrary.org/obo/MONDO_0018502 |
gastric non-hodgkin lymphoma | http://purl.obolibrary.org/obo/MONDO_0042493 | http://purl.obolibrary.org/obo/MONDO_0001059 |
Gastric Mucosa-Associated Lymphoid Tissue Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000274 | http://purl.obolibrary.org/obo/MONDO_0042493 |
Gastric Mantle Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000272 | http://purl.obolibrary.org/obo/MONDO_0042493 |
Digestive System Mixed Adenoneuroendocrine Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000219 | http://www.ebi.ac.uk/efo/EFO_1000218 |
pancreatic endocrine carcinoma | http://www.ebi.ac.uk/efo/EFO_0007416 | http://www.ebi.ac.uk/efo/EFO_1000218 |
Pancreatic Small Cell Neuroendocrine Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000444 | http://www.ebi.ac.uk/efo/EFO_0007416 |
carcinoma of liver and intrahepatic biliary tract | http://purl.obolibrary.org/obo/MONDO_0018531 | http://www.ebi.ac.uk/efo/EFO_1000218 |
bile duct carcinoma | http://www.ebi.ac.uk/efo/EFO_0005540 | http://purl.obolibrary.org/obo/MONDO_0018531 |
extrahepatic bile duct carcinoma | http://purl.obolibrary.org/obo/MONDO_0003090 | http://www.ebi.ac.uk/efo/EFO_0005540 |
Fallopian Tube Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000251 | http://www.ebi.ac.uk/efo/EFO_0000313 |
hereditary fallopian tube carcinoma | http://purl.obolibrary.org/obo/MONDO_0004166 | http://www.ebi.ac.uk/efo/EFO_1000251 |
Fallopian Tube Carcinosarcoma | http://www.ebi.ac.uk/efo/EFO_1000252 | http://www.ebi.ac.uk/efo/EFO_1000251 |
choroid plexus carcinoma | http://purl.obolibrary.org/obo/MONDO_0016718 | http://www.ebi.ac.uk/efo/EFO_0000313 |
neuroendocrine carcinoma | http://purl.obolibrary.org/obo/MONDO_0002120 | http://www.ebi.ac.uk/efo/EFO_0000313 |
small cell carcinoma | http://www.ebi.ac.uk/efo/EFO_0008524 | http://purl.obolibrary.org/obo/MONDO_0002120 |
small cell lung carcinoma | http://www.ebi.ac.uk/efo/EFO_0000702 | http://www.ebi.ac.uk/efo/EFO_0008524 |
combined small cell lung carcinoma | http://purl.obolibrary.org/obo/MONDO_0003438 | http://www.ebi.ac.uk/efo/EFO_0000702 |
Endometrial Small Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000239 | http://www.ebi.ac.uk/efo/EFO_0008524 |
Bladder Small Cell Neuroendocrine Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000129 | http://www.ebi.ac.uk/efo/EFO_0008524 |
Cervical Small Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000171 | http://www.ebi.ac.uk/efo/EFO_0008524 |
Prostate Small Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000499 | http://www.ebi.ac.uk/efo/EFO_0008524 |
Laryngeal Small Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000320 | http://www.ebi.ac.uk/efo/EFO_0008524 |
large cell neuroendocrine carcinoma | http://www.ebi.ac.uk/efo/EFO_0000563 | http://purl.obolibrary.org/obo/MONDO_0002120 |
Cervical Large Cell Neuroendocrine Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000167 | http://www.ebi.ac.uk/efo/EFO_0000563 |
Combined Lung Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000200 | http://purl.obolibrary.org/obo/MONDO_0002120 |
Adamantinoma | http://www.orpha.net/ORDO/Orphanet_55881 | http://www.ebi.ac.uk/efo/EFO_0000313 |
Tibial Adamantinoma | http://www.ebi.ac.uk/efo/EFO_1000596 | http://www.orpha.net/ORDO/Orphanet_55881 |
in situ carcinoma | http://purl.obolibrary.org/obo/MONDO_0004647 | http://www.ebi.ac.uk/efo/EFO_0000313 |
breast carcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0004658 | http://purl.obolibrary.org/obo/MONDO_0004647 |
lobular neoplasia | http://purl.obolibrary.org/obo/MONDO_0002486 | http://purl.obolibrary.org/obo/MONDO_0004658 |
Atypical Lobular Breast Hyperplasia | http://www.ebi.ac.uk/efo/EFO_1000100 | http://purl.obolibrary.org/obo/MONDO_0002486 |
Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ | http://www.ebi.ac.uk/efo/EFO_1000221 | http://purl.obolibrary.org/obo/MONDO_0004658 |
uterus carcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0004710 | http://purl.obolibrary.org/obo/MONDO_0004647 |
uterine cervix carcinoma in situ | http://purl.obolibrary.org/obo/MONDO_0042487 | http://purl.obolibrary.org/obo/MONDO_0004710 |
head and neck carcinoma | http://purl.obolibrary.org/obo/MONDO_0002038 | http://www.ebi.ac.uk/efo/EFO_0000313 |
lip and oral cavity carcinoma | http://purl.obolibrary.org/obo/MONDO_0023644 | http://purl.obolibrary.org/obo/MONDO_0002038 |
middle ear carcinoma | http://purl.obolibrary.org/obo/MONDO_0003190 | http://purl.obolibrary.org/obo/MONDO_0002038 |
nasal cavity carcinoma | http://purl.obolibrary.org/obo/MONDO_0003212 | http://purl.obolibrary.org/obo/MONDO_0002038 |
nasal cavity and paranasal sinus carcinoma | http://purl.obolibrary.org/obo/MONDO_0056819 | http://purl.obolibrary.org/obo/MONDO_0002038 |
paranasal sinus carcinoma | http://purl.obolibrary.org/obo/MONDO_0000380 | http://purl.obolibrary.org/obo/MONDO_0056819 |
ethmoid sinus cancer | http://purl.obolibrary.org/obo/MONDO_0001763 | http://purl.obolibrary.org/obo/MONDO_0000380 |
eye carcinoma | http://purl.obolibrary.org/obo/MONDO_0002466 | http://purl.obolibrary.org/obo/MONDO_0002038 |
lacrimal gland carcinoma | http://purl.obolibrary.org/obo/MONDO_0002463 | http://purl.obolibrary.org/obo/MONDO_0002466 |
uterine carcinoma | http://www.ebi.ac.uk/efo/EFO_0002919 | http://www.ebi.ac.uk/efo/EFO_0000313 |
endometrial carcinoma | http://www.ebi.ac.uk/efo/EFO_1001512 | http://www.ebi.ac.uk/efo/EFO_0002919 |
cervical carcinoma | http://www.ebi.ac.uk/efo/EFO_0001061 | http://www.ebi.ac.uk/efo/EFO_0002919 |
HPV-associated cervical carcinoma | http://www.ebi.ac.uk/efo/EFO_1002015 | http://www.ebi.ac.uk/efo/EFO_0001061 |
endocervical carcinoma | http://purl.obolibrary.org/obo/MONDO_0004259 | http://www.ebi.ac.uk/efo/EFO_0001061 |
Cervical Adenoid Basal Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000160 | http://www.ebi.ac.uk/efo/EFO_0001061 |
vulvar carcinoma | http://www.ebi.ac.uk/efo/EFO_0002921 | http://www.ebi.ac.uk/efo/EFO_0000313 |
Bartholin Gland Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000103 | http://www.ebi.ac.uk/efo/EFO_0002921 |
breast carcinoma | http://www.ebi.ac.uk/efo/EFO_0000305 | http://www.ebi.ac.uk/efo/EFO_0000313 |
ehrlich tumor carcinoma | http://www.ebi.ac.uk/efo/EFO_1000913 | http://www.ebi.ac.uk/efo/EFO_0000305 |
estrogen-receptor positive breast cancer | http://www.ebi.ac.uk/efo/EFO_1000649 | http://www.ebi.ac.uk/efo/EFO_0000305 |
estrogen-receptor negative breast cancer | http://www.ebi.ac.uk/efo/EFO_1000650 | http://www.ebi.ac.uk/efo/EFO_0000305 |
triple-negative breast cancer | http://www.ebi.ac.uk/efo/EFO_0005537 | http://www.ebi.ac.uk/efo/EFO_1000650 |
susceptibility to breast cancer | http://www.ebi.ac.uk/efo/EFO_0009649 | http://www.ebi.ac.uk/efo/EFO_0000305 |
BRCAX breast cancer | http://www.ebi.ac.uk/efo/EFO_0009443 | http://www.ebi.ac.uk/efo/EFO_0000305 |
progesterone-receptor positive breast cancer | http://www.ebi.ac.uk/efo/EFO_0009782 | http://www.ebi.ac.uk/efo/EFO_0000305 |
Breast Carcinoma by Gene Expression Profile | http://www.ebi.ac.uk/efo/EFO_1000143 | http://www.ebi.ac.uk/efo/EFO_0000305 |
breast tumor luminal | http://www.ebi.ac.uk/efo/EFO_0000306 | http://www.ebi.ac.uk/efo/EFO_1000143 |
luminal B breast carcinoma | http://purl.obolibrary.org/obo/MONDO_0021115 | http://www.ebi.ac.uk/efo/EFO_0000306 |
luminal A breast carcinoma | http://purl.obolibrary.org/obo/MONDO_0021116 | http://www.ebi.ac.uk/efo/EFO_0000306 |
HER2 Positive Breast Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000294 | http://www.ebi.ac.uk/efo/EFO_1000143 |
progesterone-receptor negative breast cancer | http://www.ebi.ac.uk/efo/EFO_0009781 | http://www.ebi.ac.uk/efo/EFO_1000143 |
HER2 negative breast carcinoma | http://www.ebi.ac.uk/efo/EFO_0009780 | http://www.ebi.ac.uk/efo/EFO_1000143 |
Normal Breast-Like Subtype of Breast Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000402 | http://www.ebi.ac.uk/efo/EFO_1000143 |
Invasive Breast Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000307 | http://www.ebi.ac.uk/efo/EFO_0000305 |
metaplastic breast carcinoma | http://www.ebi.ac.uk/efo/EFO_1000040 | http://www.ebi.ac.uk/efo/EFO_1000307 |
hereditary breast carcinoma | http://purl.obolibrary.org/obo/MONDO_0016419 | http://www.ebi.ac.uk/efo/EFO_0000305 |
Hereditary breast cancer | http://www.orpha.net/ORDO/Orphanet_227535 | http://purl.obolibrary.org/obo/MONDO_0016419 |
Hereditary breast and ovarian cancer syndrome | http://www.orpha.net/ORDO/Orphanet_145 | http://www.orpha.net/ORDO/Orphanet_227535 |
female breast carcinoma | http://purl.obolibrary.org/obo/MONDO_0004379 | http://www.ebi.ac.uk/efo/EFO_0000305 |
TP53 Positive Breast Carcinoma | http://www.ebi.ac.uk/efo/EFO_1002010 | http://www.ebi.ac.uk/efo/EFO_0000305 |
male breast carcinoma | http://www.ebi.ac.uk/efo/EFO_0006861 | http://www.ebi.ac.uk/efo/EFO_0000305 |
renal carcinoma | http://www.ebi.ac.uk/efo/EFO_0002890 | http://www.ebi.ac.uk/efo/EFO_0000313 |
familial papillary thyroid carcinoma with renal papillary neoplasia | http://purl.obolibrary.org/obo/MONDO_0011578 | http://www.ebi.ac.uk/efo/EFO_0002890 |
renal pelvis carcinoma | http://www.ebi.ac.uk/efo/EFO_0005582 | http://www.ebi.ac.uk/efo/EFO_0002890 |
Familial papillary thyroid carcinoma with renal papillary neoplasia | http://www.orpha.net/ORDO/Orphanet_97290 | http://www.ebi.ac.uk/efo/EFO_0002890 |
thyroid carcinoma | http://www.ebi.ac.uk/efo/EFO_0002892 | http://www.ebi.ac.uk/efo/EFO_0000313 |
familial nonmedullary thyroid carcinoma | http://purl.obolibrary.org/obo/MONDO_0017896 | http://www.ebi.ac.uk/efo/EFO_0002892 |
familial papillary or follicular thyroid carcinoma | http://purl.obolibrary.org/obo/MONDO_0017895 | http://purl.obolibrary.org/obo/MONDO_0017896 |
Multiple endocrine neoplasia type 2 | http://www.orpha.net/ORDO/Orphanet_653 | http://www.ebi.ac.uk/efo/EFO_0002892 |
Multiple endocrine neoplasia type 2A | http://www.orpha.net/ORDO/Orphanet_247698 | http://www.orpha.net/ORDO/Orphanet_653 |
Multiple endocrine neoplasia type 2B | http://www.orpha.net/ORDO/Orphanet_247709 | http://www.orpha.net/ORDO/Orphanet_653 |
hereditary thyroid gland medullary carcinoma | http://www.ebi.ac.uk/efo/EFO_1001957 | http://www.ebi.ac.uk/efo/EFO_0002892 |
differentiated thyroid carcinoma | http://www.ebi.ac.uk/efo/EFO_1002017 | http://www.ebi.ac.uk/efo/EFO_0002892 |
Familial papillary or follicular thyroid carcinoma | http://www.orpha.net/ORDO/Orphanet_319487 | http://www.ebi.ac.uk/efo/EFO_1002017 |
Familial nonmedullary thyroid carcinoma | http://www.orpha.net/ORDO/Orphanet_319494 | http://www.ebi.ac.uk/efo/EFO_0002892 |
Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation | http://www.ebi.ac.uk/efo/EFO_1000593 | http://www.ebi.ac.uk/efo/EFO_0002892 |
lung carcinoma | http://www.ebi.ac.uk/efo/EFO_0001071 | http://www.ebi.ac.uk/efo/EFO_0000313 |
Lung Inflammatory Myofibroblastic Tumor | http://www.ebi.ac.uk/efo/EFO_1000333 | http://www.ebi.ac.uk/efo/EFO_0001071 |
Lung Lymphangioleiomyomatosis | http://www.ebi.ac.uk/efo/EFO_1000334 | http://www.ebi.ac.uk/efo/EFO_0001071 |
non-small cell lung carcinoma | http://www.ebi.ac.uk/efo/EFO_0003060 | http://www.ebi.ac.uk/efo/EFO_0001071 |
large cell lung carcinoma | http://www.ebi.ac.uk/efo/EFO_0003050 | http://www.ebi.ac.uk/efo/EFO_0003060 |
Lymphoepithelioma-Like Lung Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000340 | http://www.ebi.ac.uk/efo/EFO_0003050 |
anaplastic lung carcinoma | http://www.ebi.ac.uk/efo/EFO_1000016 | http://www.ebi.ac.uk/efo/EFO_0003060 |
bronchogenic carcinoma | http://www.ebi.ac.uk/efo/EFO_1001942 | http://www.ebi.ac.uk/efo/EFO_0001071 |
Carcinoma, Lewis Lung | http://www.ebi.ac.uk/efo/EFO_1001770 | http://www.ebi.ac.uk/efo/EFO_0001071 |
bone carcinoma | http://purl.obolibrary.org/obo/MONDO_0002415 | http://www.ebi.ac.uk/efo/EFO_0000313 |
adamantinoma | http://purl.obolibrary.org/obo/MONDO_0002422 | http://purl.obolibrary.org/obo/MONDO_0002415 |
urinary bladder carcinoma | http://purl.obolibrary.org/obo/MONDO_0004986 | http://www.ebi.ac.uk/efo/EFO_0000313 |
bladder urachal carcinoma | http://purl.obolibrary.org/obo/MONDO_0003715 | http://purl.obolibrary.org/obo/MONDO_0004986 |
laryngeal carcinoma | http://purl.obolibrary.org/obo/MONDO_0002358 | http://www.ebi.ac.uk/efo/EFO_0000313 |
glottis carcinoma | http://purl.obolibrary.org/obo/MONDO_0002355 | http://purl.obolibrary.org/obo/MONDO_0002358 |
carcinoma of supraglottis | http://purl.obolibrary.org/obo/MONDO_0004357 | http://purl.obolibrary.org/obo/MONDO_0002358 |
testicular carcinoma | http://www.ebi.ac.uk/efo/EFO_0005088 | http://www.ebi.ac.uk/efo/EFO_0000313 |
malignant testicular germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0003510 | http://www.ebi.ac.uk/efo/EFO_0005088 |
testicular non-seminomatous germ cell cancer | http://purl.obolibrary.org/obo/MONDO_0003403 | http://purl.obolibrary.org/obo/MONDO_0003510 |
Testicular Yolk Sac Tumor | http://www.ebi.ac.uk/efo/EFO_1000574 | http://purl.obolibrary.org/obo/MONDO_0003403 |
Testicular Embryonal Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000565 | http://purl.obolibrary.org/obo/MONDO_0003403 |
Testicular Choriocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000564 | http://purl.obolibrary.org/obo/MONDO_0003403 |
testicular seminoma | http://www.ebi.ac.uk/efo/EFO_0003101 | http://purl.obolibrary.org/obo/MONDO_0003510 |
spermatocytic seminoma | http://purl.obolibrary.org/obo/MONDO_0020513 | http://www.ebi.ac.uk/efo/EFO_0003101 |
large cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0005232 | http://www.ebi.ac.uk/efo/EFO_0000313 |
nasopharyngeal type undifferentiated carcinoma | http://purl.obolibrary.org/obo/MONDO_0003572 | http://purl.obolibrary.org/obo/MONDO_0005232 |
Malignant epithelial tumor of ovary | http://www.orpha.net/ORDO/Orphanet_398934 | http://www.ebi.ac.uk/efo/EFO_0000313 |
prostate carcinoma | http://www.ebi.ac.uk/efo/EFO_0001663 | http://www.ebi.ac.uk/efo/EFO_0000313 |
familial prostate carcinoma | http://purl.obolibrary.org/obo/MONDO_0023122 | http://www.ebi.ac.uk/efo/EFO_0001663 |
Familial prostate cancer | http://www.orpha.net/ORDO/Orphanet_1331 | http://purl.obolibrary.org/obo/MONDO_0023122 |
metastatic prostate cancer | http://www.ebi.ac.uk/efo/EFO_0000196 | http://www.ebi.ac.uk/efo/EFO_0001663 |
retroperitoneum carcinoma | http://purl.obolibrary.org/obo/MONDO_0001502 | http://www.ebi.ac.uk/efo/EFO_0000313 |
adrenal carcinoma | http://purl.obolibrary.org/obo/MONDO_0002814 | http://purl.obolibrary.org/obo/MONDO_0001502 |
adrenal medulla carcinoma | http://purl.obolibrary.org/obo/MONDO_0004202 | http://purl.obolibrary.org/obo/MONDO_0002814 |
vaginal carcinoma | http://purl.obolibrary.org/obo/MONDO_0015867 | http://www.ebi.ac.uk/efo/EFO_0000313 |
invasive carcinoma | http://purl.obolibrary.org/obo/MONDO_0040677 | http://www.ebi.ac.uk/efo/EFO_0000313 |
Brown-Pearce carcinoma | http://www.ebi.ac.uk/efo/EFO_1001278 | http://www.ebi.ac.uk/efo/EFO_0000313 |
carcinoma of urethra | http://purl.obolibrary.org/obo/MONDO_0021327 | http://www.ebi.ac.uk/efo/EFO_0000313 |
krebs 2 carcinoma | http://www.ebi.ac.uk/efo/EFO_1001007 | http://www.ebi.ac.uk/efo/EFO_0000313 |
epithelial skin neoplasm | http://purl.obolibrary.org/obo/MONDO_0021634 | http://www.ebi.ac.uk/efo/EFO_0006858 |
keratoacanthoma | http://purl.obolibrary.org/obo/MONDO_0002527 | http://purl.obolibrary.org/obo/MONDO_0021634 |
familial keratoacanthoma | http://purl.obolibrary.org/obo/MONDO_0018851 | http://purl.obolibrary.org/obo/MONDO_0002527 |
thymic epithelial neoplasm | http://purl.obolibrary.org/obo/MONDO_0018079 | http://www.ebi.ac.uk/efo/EFO_0006858 |
Thymoma | http://www.ebi.ac.uk/efo/EFO_1000581 | http://purl.obolibrary.org/obo/MONDO_0018079 |
thymoma, familial | http://purl.obolibrary.org/obo/MONDO_0010127 | http://www.ebi.ac.uk/efo/EFO_1000581 |
thymoma type B | http://purl.obolibrary.org/obo/MONDO_0016974 | http://www.ebi.ac.uk/efo/EFO_1000581 |
cortical thymoma | http://purl.obolibrary.org/obo/MONDO_0003915 | http://purl.obolibrary.org/obo/MONDO_0016974 |
Thymoma Type B3 | http://www.ebi.ac.uk/efo/EFO_1000583 | http://purl.obolibrary.org/obo/MONDO_0016974 |
Thymoma Type B1 | http://www.ebi.ac.uk/efo/EFO_1000584 | http://purl.obolibrary.org/obo/MONDO_0016974 |
thymoma type A | http://purl.obolibrary.org/obo/MONDO_0002588 | http://www.ebi.ac.uk/efo/EFO_1000581 |
Thymoma Type AB | http://www.ebi.ac.uk/efo/EFO_1000582 | http://www.ebi.ac.uk/efo/EFO_1000581 |
cystic, mucinous, and serous neoplasm | http://www.ebi.ac.uk/efo/EFO_1000889 | http://www.ebi.ac.uk/efo/EFO_0006858 |
skin neoplasm | http://www.ebi.ac.uk/efo/EFO_0004198 | http://www.ebi.ac.uk/efo/EFO_0000616 |
dysplastic nevus | http://www.ebi.ac.uk/efo/EFO_0004199 | http://www.ebi.ac.uk/efo/EFO_0004198 |
dysplastic oral keratinocyte | http://www.ebi.ac.uk/efo/EFO_0006566 | http://www.ebi.ac.uk/efo/EFO_0004199 |
actinic keratosis | http://www.ebi.ac.uk/efo/EFO_0002496 | http://www.ebi.ac.uk/efo/EFO_0004198 |
inherited skin tumor | http://purl.obolibrary.org/obo/MONDO_0015950 | http://www.ebi.ac.uk/efo/EFO_0004198 |
Maffucci syndrome | http://purl.obolibrary.org/obo/MONDO_0013808 | http://purl.obolibrary.org/obo/MONDO_0015950 |
Brooke-Spiegler syndrome | http://purl.obolibrary.org/obo/MONDO_0011512 | http://purl.obolibrary.org/obo/MONDO_0015950 |
familial multiple trichoepithelioma | http://purl.obolibrary.org/obo/MONDO_0011114 | http://purl.obolibrary.org/obo/MONDO_0011512 |
Familial multiple trichoepithelioma | http://www.orpha.net/ORDO/Orphanet_867 | http://purl.obolibrary.org/obo/MONDO_0011512 |
familial cylindromatosis | http://purl.obolibrary.org/obo/MONDO_0007565 | http://purl.obolibrary.org/obo/MONDO_0011512 |
Familial cylindromatosis | http://www.orpha.net/ORDO/Orphanet_211 | http://purl.obolibrary.org/obo/MONDO_0011512 |
Becker nevus syndrome | http://purl.obolibrary.org/obo/MONDO_0011500 | http://purl.obolibrary.org/obo/MONDO_0015950 |
linear and whorled nevoid hypermelanosis | http://purl.obolibrary.org/obo/MONDO_0013688 | http://purl.obolibrary.org/obo/MONDO_0011500 |
generalized basaloid follicular hamartoma syndrome | http://purl.obolibrary.org/obo/MONDO_0011605 | http://purl.obolibrary.org/obo/MONDO_0015950 |
nevus, epidermal | http://purl.obolibrary.org/obo/MONDO_0008093 | http://purl.obolibrary.org/obo/MONDO_0015950 |
woolly hair nevus | http://purl.obolibrary.org/obo/MONDO_0019311 | http://purl.obolibrary.org/obo/MONDO_0008093 |
linear nevus sebaceous syndrome | http://purl.obolibrary.org/obo/MONDO_0008097 | http://purl.obolibrary.org/obo/MONDO_0015950 |
neurofibromatosis type 3 | http://purl.obolibrary.org/obo/MONDO_0008075 | http://purl.obolibrary.org/obo/MONDO_0015950 |
dermatofibrosarcoma protuberans | http://purl.obolibrary.org/obo/MONDO_0011934 | http://purl.obolibrary.org/obo/MONDO_0015950 |
encephalocraniocutaneous lipomatosis | http://purl.obolibrary.org/obo/MONDO_0013074 | http://purl.obolibrary.org/obo/MONDO_0015950 |
CLOVES syndrome | http://purl.obolibrary.org/obo/MONDO_0013038 | http://purl.obolibrary.org/obo/MONDO_0015950 |
hereditary mucosal leukokeratosis | http://purl.obolibrary.org/obo/MONDO_0015748 | http://purl.obolibrary.org/obo/MONDO_0015950 |
white sponge nevus 1 | http://purl.obolibrary.org/obo/MONDO_0008676 | http://purl.obolibrary.org/obo/MONDO_0015748 |
phakomatosis pigmentokeratotica | http://purl.obolibrary.org/obo/MONDO_0017317 | http://purl.obolibrary.org/obo/MONDO_0015950 |
Proteus-like syndrome | http://purl.obolibrary.org/obo/MONDO_0017571 | http://purl.obolibrary.org/obo/MONDO_0015950 |
PENS syndrome | http://purl.obolibrary.org/obo/MONDO_0017785 | http://purl.obolibrary.org/obo/MONDO_0015950 |
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | http://purl.obolibrary.org/obo/MONDO_0015293 | http://purl.obolibrary.org/obo/MONDO_0015950 |
palpebral lentiginosis | http://purl.obolibrary.org/obo/MONDO_0020178 | http://purl.obolibrary.org/obo/MONDO_0015950 |
Birt-Hogg-Dube syndrome | http://purl.obolibrary.org/obo/MONDO_0007607 | http://purl.obolibrary.org/obo/MONDO_0015950 |
large congenital melanocytic nevus | http://purl.obolibrary.org/obo/MONDO_0044792 | http://purl.obolibrary.org/obo/MONDO_0015950 |
hereditary leiomyomatosis and renal cell cancer | http://purl.obolibrary.org/obo/MONDO_0007888 | http://purl.obolibrary.org/obo/MONDO_0015950 |
neurocutaneous melanocytosis | http://purl.obolibrary.org/obo/MONDO_0009578 | http://purl.obolibrary.org/obo/MONDO_0015950 |
CHILD syndrome | http://purl.obolibrary.org/obo/MONDO_0010621 | http://purl.obolibrary.org/obo/MONDO_0015950 |
infantile myofibromatosis | http://purl.obolibrary.org/obo/MONDO_0016824 | http://purl.obolibrary.org/obo/MONDO_0015950 |
nevus comedonicus syndrome | http://purl.obolibrary.org/obo/MONDO_0014873 | http://purl.obolibrary.org/obo/MONDO_0015950 |
juvenile hyaline fibromatosis | http://purl.obolibrary.org/obo/MONDO_0016071 | http://purl.obolibrary.org/obo/MONDO_0015950 |
Rombo syndrome | http://purl.obolibrary.org/obo/MONDO_0008390 | http://purl.obolibrary.org/obo/MONDO_0015950 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000552 | http://purl.obolibrary.org/obo/MONDO_0015950 |
familial multiple fibrofolliculoma | http://purl.obolibrary.org/obo/MONDO_0018070 | http://purl.obolibrary.org/obo/MONDO_0015950 |
Bloom syndrome | http://purl.obolibrary.org/obo/MONDO_0008876 | http://purl.obolibrary.org/obo/MONDO_0015950 |
familial atypical multiple mole melanoma syndrome | http://purl.obolibrary.org/obo/MONDO_0018453 | http://purl.obolibrary.org/obo/MONDO_0015950 |
familial tumoral calcinosis | http://www.ebi.ac.uk/efo/EFO_0009385 | http://purl.obolibrary.org/obo/MONDO_0015950 |
familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome | http://www.orpha.net/ORDO/Orphanet_306661 | http://www.ebi.ac.uk/efo/EFO_0009385 |
tumoral calcinosis, hyperphosphatemic, familial, 3 | http://www.ebi.ac.uk/efo/EFO_0009384 | http://www.orpha.net/ORDO/Orphanet_306661 |
tumoral calcinosis, hyperphosphatemic, familial, 2 | http://www.ebi.ac.uk/efo/EFO_0009383 | http://www.orpha.net/ORDO/Orphanet_306661 |
normophosphatemic familial tumoral calcinosis | http://purl.obolibrary.org/obo/MONDO_0012502 | http://www.ebi.ac.uk/efo/EFO_0009385 |
cutaneous mastocytosis | http://www.ebi.ac.uk/efo/EFO_1000886 | http://purl.obolibrary.org/obo/MONDO_0015950 |
maculopapular cutaneous mastocytosis | http://www.ebi.ac.uk/efo/EFO_1001229 | http://www.ebi.ac.uk/efo/EFO_1000886 |
Merkel cell skin cancer | http://www.ebi.ac.uk/efo/EFO_1001471 | http://www.ebi.ac.uk/efo/EFO_0004198 |
Poroma | http://www.ebi.ac.uk/efo/EFO_1001826 | http://www.ebi.ac.uk/efo/EFO_0004198 |
familial Dupuytren contracture | http://purl.obolibrary.org/obo/MONDO_0007476 | http://www.ebi.ac.uk/efo/EFO_0004198 |
calcifying epithelial odontogenic tumor | http://purl.obolibrary.org/obo/MONDO_0022057 | http://www.ebi.ac.uk/efo/EFO_0004198 |
epidermal appendage tumor | http://purl.obolibrary.org/obo/MONDO_0002297 | http://www.ebi.ac.uk/efo/EFO_0004198 |
sebaceous gland neoplasm | http://www.ebi.ac.uk/efo/EFO_1001172 | http://purl.obolibrary.org/obo/MONDO_0002297 |
sebaceous gland cancer | http://purl.obolibrary.org/obo/MONDO_0037735 | http://www.ebi.ac.uk/efo/EFO_1001172 |
palpebral sebaceous gland tumor | http://purl.obolibrary.org/obo/MONDO_0020176 | http://www.ebi.ac.uk/efo/EFO_1001172 |
sweat gland neoplasm | http://www.ebi.ac.uk/efo/EFO_1001204 | http://purl.obolibrary.org/obo/MONDO_0002297 |
apocrine sweat gland neoplasm | http://purl.obolibrary.org/obo/MONDO_0003686 | http://www.ebi.ac.uk/efo/EFO_1001204 |
apocrine sweat gland cancer | http://purl.obolibrary.org/obo/MONDO_0003215 | http://purl.obolibrary.org/obo/MONDO_0003686 |
sweat gland cancer | http://purl.obolibrary.org/obo/MONDO_0002206 | http://www.ebi.ac.uk/efo/EFO_1001204 |
malignant syringoma | http://purl.obolibrary.org/obo/MONDO_0003519 | http://purl.obolibrary.org/obo/MONDO_0002206 |
eccrine sweat gland cancer | http://www.ebi.ac.uk/efo/EFO_0005553 | http://purl.obolibrary.org/obo/MONDO_0002206 |
eccrine sweat gland neoplasm | http://purl.obolibrary.org/obo/MONDO_0002090 | http://www.ebi.ac.uk/efo/EFO_1001204 |
eccrine sweat gland hamartoma | http://purl.obolibrary.org/obo/MONDO_0024482 | http://purl.obolibrary.org/obo/MONDO_0002090 |
porokeratotic eccrine ostial and dermal duct nevus | http://purl.obolibrary.org/obo/MONDO_0015635 | http://purl.obolibrary.org/obo/MONDO_0024482 |
benign eccrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0024247 | http://purl.obolibrary.org/obo/MONDO_0002090 |
Mixed Tumor of the Skin | http://www.ebi.ac.uk/efo/EFO_1000385 | http://purl.obolibrary.org/obo/MONDO_0002090 |
syringoma | http://purl.obolibrary.org/obo/MONDO_0002191 | http://www.ebi.ac.uk/efo/EFO_1001204 |
benign neoplasm of sweat gland | http://purl.obolibrary.org/obo/MONDO_0021489 | http://www.ebi.ac.uk/efo/EFO_1001204 |
benign spiradenoma | http://purl.obolibrary.org/obo/MONDO_0003448 | http://purl.obolibrary.org/obo/MONDO_0021489 |
adnexal spiradenoma/cylindroma of a sweat gland | http://purl.obolibrary.org/obo/MONDO_0021812 | http://purl.obolibrary.org/obo/MONDO_0021489 |
eccrine acrospiroma | http://www.ebi.ac.uk/efo/EFO_1000912 | http://purl.obolibrary.org/obo/MONDO_0021489 |
hidrocystoma | http://www.ebi.ac.uk/efo/EFO_1000967 | http://purl.obolibrary.org/obo/MONDO_0021489 |
hair follicle neoplasm | http://purl.obolibrary.org/obo/MONDO_0003413 | http://purl.obolibrary.org/obo/MONDO_0002297 |
Pilomatrixoma | http://www.ebi.ac.uk/efo/EFO_0009082 | http://purl.obolibrary.org/obo/MONDO_0003413 |
hamartoma of skin appendage | http://purl.obolibrary.org/obo/MONDO_0021539 | http://purl.obolibrary.org/obo/MONDO_0002297 |
dermis tumor | http://purl.obolibrary.org/obo/MONDO_0002300 | http://www.ebi.ac.uk/efo/EFO_0004198 |
leiomyoma cutis | http://purl.obolibrary.org/obo/MONDO_0003291 | http://purl.obolibrary.org/obo/MONDO_0002300 |
malignant dermis tumor | http://purl.obolibrary.org/obo/MONDO_0003363 | http://purl.obolibrary.org/obo/MONDO_0002300 |
Skin Sarcoma | http://www.ebi.ac.uk/efo/EFO_1000531 | http://purl.obolibrary.org/obo/MONDO_0003363 |
Cutaneous Undifferentiated Pleomorphic Sarcoma | http://www.ebi.ac.uk/efo/EFO_1000212 | http://www.ebi.ac.uk/efo/EFO_1000531 |
Dermatofibrosarcoma protuberans | http://www.orpha.net/ORDO/Orphanet_31112 | http://www.ebi.ac.uk/efo/EFO_1000531 |
cutaneous fibrous histiocytoma | http://www.ebi.ac.uk/efo/EFO_1000885 | http://purl.obolibrary.org/obo/MONDO_0002300 |
skin cancer | http://purl.obolibrary.org/obo/MONDO_0002898 | http://www.ebi.ac.uk/efo/EFO_0004198 |
eyelid cancer | http://purl.obolibrary.org/obo/MONDO_0021313 | http://purl.obolibrary.org/obo/MONDO_0002898 |
malignant tumor of palpebral epidermis | http://purl.obolibrary.org/obo/MONDO_0020175 | http://purl.obolibrary.org/obo/MONDO_0021313 |
primary cutaneous lymphoma | http://purl.obolibrary.org/obo/MONDO_0018898 | http://purl.obolibrary.org/obo/MONDO_0002898 |
primary cutaneous T-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0015758 | http://purl.obolibrary.org/obo/MONDO_0018898 |
indolent primary cutaneous T-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0015816 | http://purl.obolibrary.org/obo/MONDO_0015758 |
mycosis fungoides and variants | http://purl.obolibrary.org/obo/MONDO_0015821 | http://purl.obolibrary.org/obo/MONDO_0015816 |
mycosis fungoides | http://www.ebi.ac.uk/efo/EFO_1001051 | http://purl.obolibrary.org/obo/MONDO_0015821 |
aggressive primary cutaneous T-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0015817 | http://purl.obolibrary.org/obo/MONDO_0015758 |
adult T-cell leukemia/lymphoma | http://purl.obolibrary.org/obo/MONDO_0019471 | http://purl.obolibrary.org/obo/MONDO_0015817 |
extranodal nasal NK/T cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0019472 | http://purl.obolibrary.org/obo/MONDO_0015817 |
Sezary's disease | http://www.ebi.ac.uk/efo/EFO_1000785 | http://purl.obolibrary.org/obo/MONDO_0015817 |
primary cutaneous B-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0015820 | http://purl.obolibrary.org/obo/MONDO_0018898 |
indolent primary cutaneous B-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0015819 | http://purl.obolibrary.org/obo/MONDO_0015820 |
primary cutaneous marginal zone B-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0015813 | http://purl.obolibrary.org/obo/MONDO_0015819 |
aggressive primary cutaneous B-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0015818 | http://purl.obolibrary.org/obo/MONDO_0015820 |
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type | http://www.ebi.ac.uk/efo/EFO_1000490 | http://purl.obolibrary.org/obo/MONDO_0015818 |
Cutaneous T-cell lymphoma | http://www.ebi.ac.uk/efo/EFO_0002913 | http://purl.obolibrary.org/obo/MONDO_0018898 |
cutaneous melanoma | http://www.ebi.ac.uk/efo/EFO_0000389 | http://purl.obolibrary.org/obo/MONDO_0002898 |
lentigo maligna melanoma | http://purl.obolibrary.org/obo/MONDO_0023619 | http://www.ebi.ac.uk/efo/EFO_0000389 |
acral lentiginous melanoma | http://purl.obolibrary.org/obo/MONDO_0003865 | http://www.ebi.ac.uk/efo/EFO_0000389 |
nodular melanoma | http://www.ebi.ac.uk/efo/EFO_0008515 | http://www.ebi.ac.uk/efo/EFO_0000389 |
superficial spreading melanoma | http://purl.obolibrary.org/obo/MONDO_0020638 | http://www.ebi.ac.uk/efo/EFO_0000389 |
desmoplastic melanoma | http://purl.obolibrary.org/obo/MONDO_0044785 | http://www.ebi.ac.uk/efo/EFO_0000389 |
amelanotic skin melanoma | http://www.ebi.ac.uk/efo/EFO_0002894 | http://www.ebi.ac.uk/efo/EFO_0000389 |
blastic plasmacytoid dendritic cell neoplasm | http://www.ebi.ac.uk/efo/EFO_0010580 | http://purl.obolibrary.org/obo/MONDO_0002898 |
Epidermal Inclusion Cyst | http://www.ebi.ac.uk/efo/EFO_1000243 | http://www.ebi.ac.uk/efo/EFO_0004198 |
benign neoplasm of skin | http://purl.obolibrary.org/obo/MONDO_0021440 | http://www.ebi.ac.uk/efo/EFO_0004198 |
benign eyelid neoplasm | http://purl.obolibrary.org/obo/MONDO_0021605 | http://purl.obolibrary.org/obo/MONDO_0021440 |
benign tumor of palpebral epidermis | http://purl.obolibrary.org/obo/MONDO_0020173 | http://purl.obolibrary.org/obo/MONDO_0021605 |
palpebral nevus | http://purl.obolibrary.org/obo/MONDO_0020179 | http://purl.obolibrary.org/obo/MONDO_0020173 |
melanocytic nevus | http://www.ebi.ac.uk/efo/EFO_0009675 | http://purl.obolibrary.org/obo/MONDO_0021440 |
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus | http://www.orpha.net/ORDO/Orphanet_137608 | http://www.ebi.ac.uk/efo/EFO_0009675 |
pigmented spindle cell nevus | http://www.ebi.ac.uk/efo/EFO_1001105 | http://www.ebi.ac.uk/efo/EFO_0009675 |
Linear nevus sebaceus syndrome | http://www.orpha.net/ORDO/Orphanet_2612 | http://www.ebi.ac.uk/efo/EFO_0009675 |
CLOVE syndrome | http://www.orpha.net/ORDO/Orphanet_140944 | http://www.ebi.ac.uk/efo/EFO_0009675 |
Nevus comedonicus syndrome | http://www.orpha.net/ORDO/Orphanet_64754 | http://www.ebi.ac.uk/efo/EFO_0009675 |
Porokeratotic eccrine ostial and dermal duct nevus | http://www.orpha.net/ORDO/Orphanet_166286 | http://www.ebi.ac.uk/efo/EFO_0009675 |
Large congenital melanocytic nevus | http://www.orpha.net/ORDO/Orphanet_626 | http://www.ebi.ac.uk/efo/EFO_0009675 |
Phakomatosis pigmentokeratotica | http://www.orpha.net/ORDO/Orphanet_2874 | http://www.ebi.ac.uk/efo/EFO_0009675 |
benign melanocytic skin nevus | http://purl.obolibrary.org/obo/MONDO_0044794 | http://www.ebi.ac.uk/efo/EFO_0009675 |
spitz nevus | http://purl.obolibrary.org/obo/MONDO_0044793 | http://purl.obolibrary.org/obo/MONDO_0044794 |
White sponge nevus | http://www.orpha.net/ORDO/Orphanet_171723 | http://www.ebi.ac.uk/efo/EFO_0009675 |
Conjunctival Nevus | http://www.ebi.ac.uk/efo/EFO_1000205 | http://www.ebi.ac.uk/efo/EFO_0009675 |
Nevus of Ota | http://www.ebi.ac.uk/efo/EFO_1000396 | http://www.ebi.ac.uk/efo/EFO_0009675 |
Nevus of Ito | http://www.ebi.ac.uk/efo/EFO_1000395 | http://www.ebi.ac.uk/efo/EFO_0009675 |
intradermal nevus | http://www.ebi.ac.uk/efo/EFO_1000995 | http://www.ebi.ac.uk/efo/EFO_0009675 |
halo nevus | http://www.ebi.ac.uk/efo/EFO_1000958 | http://www.ebi.ac.uk/efo/EFO_0009675 |
blue nevus | http://www.ebi.ac.uk/efo/EFO_1000841 | http://www.ebi.ac.uk/efo/EFO_0009675 |
Cutaneous Follicular Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000211 | http://www.ebi.ac.uk/efo/EFO_0004198 |
melanocytic skin neoplasm | http://purl.obolibrary.org/obo/MONDO_0021583 | http://www.ebi.ac.uk/efo/EFO_0004198 |
Benign Skin Appendage Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000120 | http://www.ebi.ac.uk/efo/EFO_0004198 |
Skin Cavernous Hemangioma | http://www.ebi.ac.uk/efo/EFO_1000530 | http://www.ebi.ac.uk/efo/EFO_0004198 |
Lymphomatoid Papulosis | http://www.ebi.ac.uk/efo/EFO_1000341 | http://www.ebi.ac.uk/efo/EFO_0004198 |
eyelid neoplasm | http://www.ebi.ac.uk/efo/EFO_1000934 | http://www.ebi.ac.uk/efo/EFO_0004198 |
palpebral piliary tumor | http://purl.obolibrary.org/obo/MONDO_0020180 | http://www.ebi.ac.uk/efo/EFO_1000934 |
mesenchymatous palpebral tumor | http://purl.obolibrary.org/obo/MONDO_0020181 | http://www.ebi.ac.uk/efo/EFO_1000934 |
neurogenic palpebral tumor | http://purl.obolibrary.org/obo/MONDO_0020183 | http://www.ebi.ac.uk/efo/EFO_1000934 |
pigmented palpebral tumor | http://purl.obolibrary.org/obo/MONDO_0020177 | http://www.ebi.ac.uk/efo/EFO_1000934 |
palpebral epidermal tumor | http://purl.obolibrary.org/obo/MONDO_0020172 | http://www.ebi.ac.uk/efo/EFO_1000934 |
precancerous lesion of palpebral epidermis | http://purl.obolibrary.org/obo/MONDO_0020174 | http://purl.obolibrary.org/obo/MONDO_0020172 |
dermoid cyst | http://www.ebi.ac.uk/efo/EFO_1000894 | http://www.ebi.ac.uk/efo/EFO_0004198 |
peritoneal neoplasm | http://www.ebi.ac.uk/efo/EFO_1001100 | http://www.ebi.ac.uk/efo/EFO_0000616 |
peritoneal solitary fibrous tumor | http://purl.obolibrary.org/obo/MONDO_0037737 | http://www.ebi.ac.uk/efo/EFO_1001100 |
peritoneal benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000650 | http://www.ebi.ac.uk/efo/EFO_1001100 |
Disseminated Peritoneal Leiomyomatosis | http://www.ebi.ac.uk/efo/EFO_1000220 | http://purl.obolibrary.org/obo/MONDO_0000650 |
peritoneum cancer | http://purl.obolibrary.org/obo/MONDO_0002087 | http://www.ebi.ac.uk/efo/EFO_1001100 |
malignant peritoneal mesothelioma | http://www.ebi.ac.uk/efo/EFO_0005567 | http://purl.obolibrary.org/obo/MONDO_0002087 |
Peritoneal Mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000467 | http://www.ebi.ac.uk/efo/EFO_1001100 |
Peritoneal Well Differentiated Papillary Mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000469 | http://www.ebi.ac.uk/efo/EFO_1000467 |
Peritoneal Multicystic Mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000468 | http://www.ebi.ac.uk/efo/EFO_1000467 |
mesothelial neoplasm | http://www.ebi.ac.uk/efo/EFO_1001044 | http://www.ebi.ac.uk/efo/EFO_0000616 |
mesothelioma | http://www.ebi.ac.uk/efo/EFO_0000588 | http://www.ebi.ac.uk/efo/EFO_1001044 |
well differentiated papillary mesothelioma | http://purl.obolibrary.org/obo/MONDO_0003688 | http://www.ebi.ac.uk/efo/EFO_0000588 |
Pleural Mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000485 | http://www.ebi.ac.uk/efo/EFO_0000588 |
malignant pleural mesothelioma | http://www.ebi.ac.uk/efo/EFO_0000770 | http://www.ebi.ac.uk/efo/EFO_1000485 |
Pleural Epithelioid Mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000484 | http://www.ebi.ac.uk/efo/EFO_0000770 |
Pleural Sarcomatoid Mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000486 | http://www.ebi.ac.uk/efo/EFO_0000770 |
Malignant Mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000355 | http://www.ebi.ac.uk/efo/EFO_0000588 |
malignant epithelioid mesothelioma | http://www.ebi.ac.uk/efo/EFO_0006452 | http://www.ebi.ac.uk/efo/EFO_1000355 |
malignant pericardial mesothelioma | http://purl.obolibrary.org/obo/MONDO_0003805 | http://www.ebi.ac.uk/efo/EFO_1000355 |
Biphasic Mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000124 | http://www.ebi.ac.uk/efo/EFO_1000355 |
Pleural Biphasic Mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000483 | http://www.ebi.ac.uk/efo/EFO_1000124 |
Sarcomatoid Mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000521 | http://www.ebi.ac.uk/efo/EFO_1000355 |
benign fibrous mesothelioma | http://www.ebi.ac.uk/efo/EFO_1000835 | http://www.ebi.ac.uk/efo/EFO_0000588 |
mesenchymoma | http://www.ebi.ac.uk/efo/EFO_1001042 | http://www.ebi.ac.uk/efo/EFO_0000616 |
cystic neoplasm | http://purl.obolibrary.org/obo/MONDO_0021077 | http://www.ebi.ac.uk/efo/EFO_0000616 |
angiomyoma | http://www.ebi.ac.uk/efo/EFO_1000806 | http://www.ebi.ac.uk/efo/EFO_0000616 |
hamartoma | http://www.ebi.ac.uk/efo/EFO_1000634 | http://www.ebi.ac.uk/efo/EFO_0000616 |
mesenchymal hamartoma | http://purl.obolibrary.org/obo/MONDO_0024478 | http://www.ebi.ac.uk/efo/EFO_1000634 |
Fibrous Hamartoma of Infancy | http://www.ebi.ac.uk/efo/EFO_1000257 | http://purl.obolibrary.org/obo/MONDO_0024478 |
Gastrointestinal Hamartoma | http://www.ebi.ac.uk/efo/EFO_1000280 | http://www.ebi.ac.uk/efo/EFO_1000634 |
Gastric Hamartomatous Polyp | http://www.ebi.ac.uk/efo/EFO_1000271 | http://www.ebi.ac.uk/efo/EFO_1000280 |
Peutz-Jeghers Polyp of the Stomach | http://www.ebi.ac.uk/efo/EFO_1000471 | http://www.ebi.ac.uk/efo/EFO_1000271 |
Juvenile Polyp | http://www.ebi.ac.uk/efo/EFO_1000310 | http://www.ebi.ac.uk/efo/EFO_1000280 |
Colorectal Juvenile Polyp | http://www.ebi.ac.uk/efo/EFO_1000194 | http://www.ebi.ac.uk/efo/EFO_1000310 |
Colon Juvenile Polyp | http://www.ebi.ac.uk/efo/EFO_1000185 | http://www.ebi.ac.uk/efo/EFO_1000194 |
Colorectal Hamartoma | http://www.ebi.ac.uk/efo/EFO_1000193 | http://www.ebi.ac.uk/efo/EFO_1000280 |
Peutz-Jeghers Polyp | http://www.ebi.ac.uk/efo/EFO_1000470 | http://www.ebi.ac.uk/efo/EFO_1000280 |
Chondroid Hamartoma | http://www.ebi.ac.uk/efo/EFO_1000175 | http://www.ebi.ac.uk/efo/EFO_1000634 |
Thyroglossal Duct Cyst | http://www.ebi.ac.uk/efo/EFO_1000585 | http://www.ebi.ac.uk/efo/EFO_0000616 |
familial thyroglossal duct cyst | http://purl.obolibrary.org/obo/MONDO_0008565 | http://www.ebi.ac.uk/efo/EFO_1000585 |
tumor of testis and paratestis | http://purl.obolibrary.org/obo/MONDO_0018191 | http://www.ebi.ac.uk/efo/EFO_0000616 |
testicular sex cord-stromal neoplasm | http://purl.obolibrary.org/obo/MONDO_0003125 | http://purl.obolibrary.org/obo/MONDO_0018191 |
Testicular Germ Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000566 | http://purl.obolibrary.org/obo/MONDO_0018191 |
testicular pure germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0002874 | http://www.ebi.ac.uk/efo/EFO_1000566 |
testicular trophoblastic tumor | http://purl.obolibrary.org/obo/MONDO_0002871 | http://purl.obolibrary.org/obo/MONDO_0002874 |
Testicular Teratoma | http://www.ebi.ac.uk/efo/EFO_1000573 | http://www.ebi.ac.uk/efo/EFO_1000566 |
Testicular Non-Seminomatous Germ Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000570 | http://www.ebi.ac.uk/efo/EFO_1000566 |
Non-Seminomatous Lesion | http://www.ebi.ac.uk/efo/EFO_1000401 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Odontogenic Cyst | http://www.ebi.ac.uk/efo/EFO_1000406 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Neoplastic Medium-Sized B-Lymphocyte with Basophilic Cytoplasm | http://www.ebi.ac.uk/efo/EFO_1000392 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Phosphaturic Mesenchymal Tumor | http://www.ebi.ac.uk/efo/EFO_1000473 | http://www.ebi.ac.uk/efo/EFO_0000616 |
connective tissue neoplasm | http://purl.obolibrary.org/obo/MONDO_0021581 | http://www.ebi.ac.uk/efo/EFO_0000616 |
retinal capillary malformation | http://purl.obolibrary.org/obo/MONDO_0019101 | http://purl.obolibrary.org/obo/MONDO_0021581 |
Angiomyxoma | http://www.ebi.ac.uk/efo/EFO_1000087 | http://purl.obolibrary.org/obo/MONDO_0021581 |
bone neoplasm | http://www.ebi.ac.uk/efo/EFO_0003820 | http://purl.obolibrary.org/obo/MONDO_0021581 |
OSLAM syndrome | http://purl.obolibrary.org/obo/MONDO_0008139 | http://www.ebi.ac.uk/efo/EFO_0003820 |
melanotic neuroectodermal tumor | http://www.ebi.ac.uk/efo/EFO_1001038 | http://www.ebi.ac.uk/efo/EFO_0003820 |
Ollier disease | http://purl.obolibrary.org/obo/MONDO_0008145 | http://www.ebi.ac.uk/efo/EFO_0003820 |
Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone | http://purl.obolibrary.org/obo/MONDO_0021123 | http://www.ebi.ac.uk/efo/EFO_0003820 |
hereditary multiple osteochondromas | http://purl.obolibrary.org/obo/MONDO_0005508 | http://www.ebi.ac.uk/efo/EFO_0003820 |
exostoses, multiple, type 1 | http://purl.obolibrary.org/obo/MONDO_0007585 | http://purl.obolibrary.org/obo/MONDO_0005508 |
exostoses, multiple, type 2 | http://purl.obolibrary.org/obo/MONDO_0007586 | http://purl.obolibrary.org/obo/MONDO_0005508 |
diaphyseal medullary stenosis-bone malignancy syndrome | http://purl.obolibrary.org/obo/MONDO_0007205 | http://www.ebi.ac.uk/efo/EFO_0003820 |
aneurysmal bone cyst | http://www.ebi.ac.uk/efo/EFO_1001760 | http://www.ebi.ac.uk/efo/EFO_0003820 |
vascular bone neoplasm | http://purl.obolibrary.org/obo/MONDO_0024499 | http://www.ebi.ac.uk/efo/EFO_0003820 |
jugulotympanic paraganglioma | http://purl.obolibrary.org/obo/MONDO_0021064 | http://purl.obolibrary.org/obo/MONDO_0024499 |
Malignant Jugulotympanic Paraganglioma | http://www.ebi.ac.uk/efo/EFO_1000353 | http://purl.obolibrary.org/obo/MONDO_0021064 |
cavernous sinus meningioma | http://purl.obolibrary.org/obo/MONDO_0002996 | http://purl.obolibrary.org/obo/MONDO_0024499 |
inverse Klippel-Trenaunay syndrome | http://purl.obolibrary.org/obo/MONDO_0018001 | http://purl.obolibrary.org/obo/MONDO_0024499 |
bone benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000631 | http://www.ebi.ac.uk/efo/EFO_0003820 |
osteoma | http://www.ebi.ac.uk/efo/EFO_0002423 | http://purl.obolibrary.org/obo/MONDO_0000631 |
periosteal chondroma | http://purl.obolibrary.org/obo/MONDO_0002359 | http://purl.obolibrary.org/obo/MONDO_0000631 |
chondromyxoid fibroma | http://www.ebi.ac.uk/efo/EFO_0000332 | http://purl.obolibrary.org/obo/MONDO_0000631 |
chondroblastoma | http://www.ebi.ac.uk/efo/EFO_0000331 | http://purl.obolibrary.org/obo/MONDO_0000631 |
benign neoplasm of pituitary gland | http://purl.obolibrary.org/obo/MONDO_0021439 | http://purl.obolibrary.org/obo/MONDO_0000631 |
skull neoplasm | http://purl.obolibrary.org/obo/MONDO_0024653 | http://www.ebi.ac.uk/efo/EFO_0003820 |
orbit neoplasm | http://purl.obolibrary.org/obo/MONDO_0024611 | http://purl.obolibrary.org/obo/MONDO_0024653 |
orbital cancer | http://www.ebi.ac.uk/efo/EFO_0007408 | http://purl.obolibrary.org/obo/MONDO_0024611 |
orbital plasma cell granuloma | http://www.ebi.ac.uk/efo/EFO_1001077 | http://www.ebi.ac.uk/efo/EFO_0007408 |
orbit sarcoma | http://purl.obolibrary.org/obo/MONDO_0004943 | http://www.ebi.ac.uk/efo/EFO_0007408 |
orbit rhabdomyosarcoma | http://purl.obolibrary.org/obo/MONDO_0002580 | http://purl.obolibrary.org/obo/MONDO_0004943 |
orbit embryonal rhabdomyosarcoma | http://purl.obolibrary.org/obo/MONDO_0002579 | http://purl.obolibrary.org/obo/MONDO_0002580 |
paranasal sinus neoplasm | http://www.ebi.ac.uk/efo/EFO_0003866 | http://purl.obolibrary.org/obo/MONDO_0024653 |
ethmoidal sinus neoplasm | http://purl.obolibrary.org/obo/MONDO_0001764 | http://www.ebi.ac.uk/efo/EFO_0003866 |
maxillary sinus neoplasm | http://www.ebi.ac.uk/efo/EFO_1001035 | http://www.ebi.ac.uk/efo/EFO_0003866 |
paranasal sinus cancer | http://purl.obolibrary.org/obo/MONDO_0020669 | http://www.ebi.ac.uk/efo/EFO_0003866 |
skull base neoplasm | http://purl.obolibrary.org/obo/MONDO_0002785 | http://purl.obolibrary.org/obo/MONDO_0024653 |
sella turcica neoplasm | http://purl.obolibrary.org/obo/MONDO_0002720 | http://purl.obolibrary.org/obo/MONDO_0002785 |
pituitary tumor | http://purl.obolibrary.org/obo/MONDO_0017611 | http://purl.obolibrary.org/obo/MONDO_0002720 |
ACTH-producing pituitary gland neoplasm | http://purl.obolibrary.org/obo/MONDO_0045058 | http://purl.obolibrary.org/obo/MONDO_0017611 |
functioning pituitary gland neoplasm | http://purl.obolibrary.org/obo/MONDO_0003604 | http://purl.obolibrary.org/obo/MONDO_0017611 |
non-functioning pituitary gland neoplasm | http://purl.obolibrary.org/obo/MONDO_0003603 | http://purl.obolibrary.org/obo/MONDO_0017611 |
posterior pituitary gland neoplasm | http://purl.obolibrary.org/obo/MONDO_0003257 | http://purl.obolibrary.org/obo/MONDO_0017611 |
Granular Cell Tumor of the Neurohypophysis | http://www.ebi.ac.uk/efo/EFO_1000285 | http://purl.obolibrary.org/obo/MONDO_0003257 |
Pituicytoma | http://www.ebi.ac.uk/efo/EFO_1000477 | http://purl.obolibrary.org/obo/MONDO_0003257 |
prolactin producing pituitary tumor | http://purl.obolibrary.org/obo/MONDO_0003430 | http://purl.obolibrary.org/obo/MONDO_0017611 |
pituitary cancer | http://www.ebi.ac.uk/efo/EFO_0005578 | http://purl.obolibrary.org/obo/MONDO_0017611 |
optic tract astrocytoma | http://purl.obolibrary.org/obo/MONDO_0024649 | http://www.ebi.ac.uk/efo/EFO_0005578 |
optic pathway glioma | http://purl.obolibrary.org/obo/MONDO_0016167 | http://purl.obolibrary.org/obo/MONDO_0017611 |
optic nerve glioblastoma | http://www.ebi.ac.uk/efo/EFO_0009254 | http://purl.obolibrary.org/obo/MONDO_0016167 |
skull base meningioma | http://purl.obolibrary.org/obo/MONDO_0002998 | http://purl.obolibrary.org/obo/MONDO_0002785 |
skull cancer | http://purl.obolibrary.org/obo/MONDO_0002132 | http://purl.obolibrary.org/obo/MONDO_0024653 |
jaw cancer | http://www.ebi.ac.uk/efo/EFO_0007333 | http://purl.obolibrary.org/obo/MONDO_0002132 |
mandibular cancer | http://www.ebi.ac.uk/efo/EFO_0007356 | http://www.ebi.ac.uk/efo/EFO_0007333 |
neoplasm of jaw | http://purl.obolibrary.org/obo/MONDO_0021580 | http://purl.obolibrary.org/obo/MONDO_0024653 |
maxillary neoplasm | http://www.ebi.ac.uk/efo/EFO_0007360 | http://purl.obolibrary.org/obo/MONDO_0021580 |
notochordal tumor | http://purl.obolibrary.org/obo/MONDO_0002597 | http://www.ebi.ac.uk/efo/EFO_0003820 |
chordoma | http://purl.obolibrary.org/obo/MONDO_0008978 | http://purl.obolibrary.org/obo/MONDO_0002597 |
Chondroid Chordoma | http://www.ebi.ac.uk/efo/EFO_1000174 | http://purl.obolibrary.org/obo/MONDO_0008978 |
Spinal Chordoma | http://www.ebi.ac.uk/efo/EFO_1000543 | http://purl.obolibrary.org/obo/MONDO_0008978 |
femoral cancer | http://www.ebi.ac.uk/efo/EFO_0007270 | http://www.ebi.ac.uk/efo/EFO_0003820 |
Bone Epithelioid Hemangioma | http://www.ebi.ac.uk/efo/EFO_1000132 | http://www.ebi.ac.uk/efo/EFO_0003820 |
ossifying fibroma | http://www.ebi.ac.uk/efo/EFO_0007412 | http://www.ebi.ac.uk/efo/EFO_0003820 |
ossifying fibroma of the jaw | http://www.ebi.ac.uk/efo/EFO_0009913 | http://www.ebi.ac.uk/efo/EFO_0007412 |
Malignant Bone Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000350 | http://www.ebi.ac.uk/efo/EFO_0003820 |
bone sarcoma | http://purl.obolibrary.org/obo/MONDO_0021054 | http://www.ebi.ac.uk/efo/EFO_1000350 |
periosteal chondrosarcoma | http://purl.obolibrary.org/obo/MONDO_0003680 | http://purl.obolibrary.org/obo/MONDO_0021054 |
clear cell chondrosarcoma | http://purl.obolibrary.org/obo/MONDO_0003684 | http://purl.obolibrary.org/obo/MONDO_0021054 |
undifferentiated pleomorphic sarcoma | http://www.ebi.ac.uk/efo/EFO_1001972 | http://purl.obolibrary.org/obo/MONDO_0021054 |
malignant giant cell tumor of soft parts | http://purl.obolibrary.org/obo/MONDO_0003561 | http://www.ebi.ac.uk/efo/EFO_1001972 |
Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant | http://www.ebi.ac.uk/efo/EFO_1000608 | http://www.ebi.ac.uk/efo/EFO_1001972 |
bone osteosarcoma | http://purl.obolibrary.org/obo/MONDO_0002629 | http://purl.obolibrary.org/obo/MONDO_0021054 |
conventional osteosarcoma | http://purl.obolibrary.org/obo/MONDO_0002631 | http://purl.obolibrary.org/obo/MONDO_0002629 |
chondroblastic osteosarcoma | http://purl.obolibrary.org/obo/MONDO_0002627 | http://purl.obolibrary.org/obo/MONDO_0002631 |
fibrosarcomatous osteosarcoma | http://purl.obolibrary.org/obo/MONDO_0004301 | http://purl.obolibrary.org/obo/MONDO_0002631 |
peripheral osteosarcoma | http://purl.obolibrary.org/obo/MONDO_0002628 | http://purl.obolibrary.org/obo/MONDO_0002629 |
juxtacortical osteosarcoma | http://www.ebi.ac.uk/efo/EFO_1001000 | http://purl.obolibrary.org/obo/MONDO_0002628 |
High Grade Surface Osteosarcoma | http://www.ebi.ac.uk/efo/EFO_1000296 | http://purl.obolibrary.org/obo/MONDO_0002628 |
telangiectatic osteogenic sarcoma | http://purl.obolibrary.org/obo/MONDO_0004050 | http://purl.obolibrary.org/obo/MONDO_0002629 |
undifferentiated high grade pleomorphic sarcoma of bone | http://purl.obolibrary.org/obo/MONDO_0002618 | http://purl.obolibrary.org/obo/MONDO_0021054 |
bone fibrosarcoma | http://purl.obolibrary.org/obo/MONDO_0002619 | http://purl.obolibrary.org/obo/MONDO_0021054 |
dedifferentiated chondrosarcoma | http://www.ebi.ac.uk/efo/EFO_0000394 | http://purl.obolibrary.org/obo/MONDO_0021054 |
Malignancy in Giant Cell Tumor of Bone | http://www.ebi.ac.uk/efo/EFO_1000347 | http://purl.obolibrary.org/obo/MONDO_0021054 |
bone giant cell tumor | http://www.ebi.ac.uk/efo/EFO_0007176 | http://purl.obolibrary.org/obo/MONDO_0021054 |
giant cell reparative granuloma | http://www.ebi.ac.uk/efo/EFO_1000950 | http://www.ebi.ac.uk/efo/EFO_0007176 |
bone marrow cancer | http://purl.obolibrary.org/obo/MONDO_0021138 | http://www.ebi.ac.uk/efo/EFO_1000350 |
chronic myeloproliferative disorder | http://www.ebi.ac.uk/efo/EFO_0002428 | http://purl.obolibrary.org/obo/MONDO_0021138 |
myeloproliferative neoplasm, unclassifiable | http://purl.obolibrary.org/obo/MONDO_0019452 | http://www.ebi.ac.uk/efo/EFO_0002428 |
erythroid neoplasm | http://purl.obolibrary.org/obo/MONDO_0020703 | http://www.ebi.ac.uk/efo/EFO_0002428 |
polycythemia vera | http://www.ebi.ac.uk/efo/EFO_0002429 | http://purl.obolibrary.org/obo/MONDO_0020703 |
acute erythroleukemia, familial | http://purl.obolibrary.org/obo/MONDO_0007573 | http://purl.obolibrary.org/obo/MONDO_0020703 |
erythroleukemia | http://www.ebi.ac.uk/efo/EFO_1001955 | http://purl.obolibrary.org/obo/MONDO_0007573 |
acute erythroleukemia | http://www.ebi.ac.uk/efo/EFO_0000218 | http://purl.obolibrary.org/obo/MONDO_0020703 |
essential thrombocythemia | http://www.ebi.ac.uk/efo/EFO_0000479 | http://www.ebi.ac.uk/efo/EFO_0002428 |
myeloid leukemia | http://purl.obolibrary.org/obo/MONDO_0004643 | http://www.ebi.ac.uk/efo/EFO_0002428 |
inherited acute myeloid leukemia | http://purl.obolibrary.org/obo/MONDO_0017893 | http://purl.obolibrary.org/obo/MONDO_0004643 |
acute erythroblastic leukemia | http://www.ebi.ac.uk/efo/EFO_1001257 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia by FAB classification | http://purl.obolibrary.org/obo/MONDO_0015667 | http://purl.obolibrary.org/obo/MONDO_0017893 |
myeloid sarcoma | http://www.ebi.ac.uk/efo/EFO_1001052 | http://purl.obolibrary.org/obo/MONDO_0015667 |
Granulocytic Sarcoma | http://www.ebi.ac.uk/efo/EFO_1000286 | http://www.ebi.ac.uk/efo/EFO_1001052 |
acute panmyelosis with myelofibrosis | http://purl.obolibrary.org/obo/MONDO_0019455 | http://purl.obolibrary.org/obo/MONDO_0015667 |
acute basophilic leukemia | http://www.ebi.ac.uk/efo/EFO_0003029 | http://purl.obolibrary.org/obo/MONDO_0015667 |
acute myeloblastic leukemia without maturation | http://www.ebi.ac.uk/efo/EFO_0003027 | http://purl.obolibrary.org/obo/MONDO_0015667 |
acute myeloblastic leukemia with maturation | http://www.ebi.ac.uk/efo/EFO_0003028 | http://purl.obolibrary.org/obo/MONDO_0015667 |
childhood acute myeloid leukemia with maturation | http://www.ebi.ac.uk/efo/EFO_1001945 | http://www.ebi.ac.uk/efo/EFO_0003028 |
acute megakaryoblastic leukaemia | http://www.ebi.ac.uk/efo/EFO_0003025 | http://purl.obolibrary.org/obo/MONDO_0015667 |
acute megakaryoblastic leukemia in down syndrome | http://purl.obolibrary.org/obo/MONDO_0020526 | http://www.ebi.ac.uk/efo/EFO_0003025 |
childhood acute megakaryoblastic leukemia | http://www.ebi.ac.uk/efo/EFO_1001943 | http://www.ebi.ac.uk/efo/EFO_0003025 |
adult acute megakaryoblastic leukemia | http://www.ebi.ac.uk/efo/EFO_1001932 | http://www.ebi.ac.uk/efo/EFO_0003025 |
minimally differentiated acute myeloblastic leukemia | http://www.ebi.ac.uk/efo/EFO_0003026 | http://purl.obolibrary.org/obo/MONDO_0015667 |
acute myelomonocytic leukemia | http://www.ebi.ac.uk/efo/EFO_0000223 | http://purl.obolibrary.org/obo/MONDO_0015667 |
acute myeloid leukemia with CEBPA somatic mutations | http://purl.obolibrary.org/obo/MONDO_0017894 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute leukemia of ambiguous lineage | http://purl.obolibrary.org/obo/MONDO_0019460 | http://purl.obolibrary.org/obo/MONDO_0017893 |
mixed phenotype acute leukemia | http://purl.obolibrary.org/obo/MONDO_0020743 | http://purl.obolibrary.org/obo/MONDO_0019460 |
B- and T-cell mixed leukemia | http://www.ebi.ac.uk/efo/EFO_1000828 | http://purl.obolibrary.org/obo/MONDO_0020743 |
therapy related acute myeloid leukemia and myelodysplastic syndrome | http://purl.obolibrary.org/obo/MONDO_0019457 | http://purl.obolibrary.org/obo/MONDO_0017893 |
adult acute myeloid leukemia | http://www.ebi.ac.uk/efo/EFO_1001934 | http://purl.obolibrary.org/obo/MONDO_0017893 |
core binding factor acute myeloid leukemia | http://www.ebi.ac.uk/efo/EFO_1002001 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute promyelocytic leukemia | http://www.ebi.ac.uk/efo/EFO_0000224 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute monocytic leukemia | http://www.ebi.ac.uk/efo/EFO_0000221 | http://purl.obolibrary.org/obo/MONDO_0017893 |
childhood acute monocytic leukemia | http://www.ebi.ac.uk/efo/EFO_1001944 | http://www.ebi.ac.uk/efo/EFO_0000221 |
adult acute monocytic leukemia | http://www.ebi.ac.uk/efo/EFO_1001933 | http://www.ebi.ac.uk/efo/EFO_0000221 |
childhood acute myeloid leukemia | http://www.ebi.ac.uk/efo/EFO_0000330 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, Trisomy 8 | http://purl.obolibrary.org/obo/MONDO_0100389 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, Monosomy 5 | http://purl.obolibrary.org/obo/MONDO_0100388 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, Monosomy 7 | http://purl.obolibrary.org/obo/MONDO_0100387 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(v;11q23.3) | http://purl.obolibrary.org/obo/MONDO_0100386 | http://purl.obolibrary.org/obo/MONDO_0017893 |
Acute myeloid leukemia with CEBPA somatic mutations | http://www.orpha.net/ORDO/Orphanet_319480 | http://purl.obolibrary.org/obo/MONDO_0017893 |
Inherited acute myeloid leukemia | http://www.orpha.net/ORDO/Orphanet_319465 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive | http://purl.obolibrary.org/obo/MONDO_0100405 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, inv(16)(p13.3;q24.3) | http://purl.obolibrary.org/obo/MONDO_0100406 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(11;15)(p15;q35) | http://purl.obolibrary.org/obo/MONDO_0100407 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(16;21)(q24;q22) | http://purl.obolibrary.org/obo/MONDO_0100408 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(3;5)(q25;q34) | http://purl.obolibrary.org/obo/MONDO_0100409 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(16;21)(p11;q22) | http://purl.obolibrary.org/obo/MONDO_0100410 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, monoallelic CEBPA gene mutation | http://purl.obolibrary.org/obo/MONDO_0100412 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, biallelic CEBPA gene mutation | http://purl.obolibrary.org/obo/MONDO_0100413 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, CEBPA gene mutation | http://purl.obolibrary.org/obo/MONDO_0100414 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, FLT3 internal tandem duplication | http://purl.obolibrary.org/obo/MONDO_0100415 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation | http://purl.obolibrary.org/obo/MONDO_0100416 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, WT1 gene mutation | http://purl.obolibrary.org/obo/MONDO_0100417 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, KIT exon 17 mutation | http://purl.obolibrary.org/obo/MONDO_0100418 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, KIT exon 8 mutation | http://purl.obolibrary.org/obo/MONDO_0100419 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, KIT gene mutation | http://purl.obolibrary.org/obo/MONDO_0100420 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, GATA1 gene mutation | http://purl.obolibrary.org/obo/MONDO_0100421 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, RUNX1 gene mutation | http://purl.obolibrary.org/obo/MONDO_0100422 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, PTPN11 gene mutation | http://purl.obolibrary.org/obo/MONDO_0100423 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, NRAS gene mutation | http://purl.obolibrary.org/obo/MONDO_0100424 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, KRAS gene mutation | http://purl.obolibrary.org/obo/MONDO_0100425 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(3;12)(q23;p12.3) | http://purl.obolibrary.org/obo/MONDO_0100400 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, del(5q31-q32) | http://purl.obolibrary.org/obo/MONDO_0100401 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, del(13q14-q21) | http://purl.obolibrary.org/obo/MONDO_0100402 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, loss of chromosome 17p | http://purl.obolibrary.org/obo/MONDO_0100403 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, MLL gene rearrangement | http://purl.obolibrary.org/obo/MONDO_0100404 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, der12p | http://purl.obolibrary.org/obo/MONDO_0100390 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(2;12) | http://purl.obolibrary.org/obo/MONDO_0100391 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(11;17) | http://purl.obolibrary.org/obo/MONDO_0100392 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(8;16) | http://purl.obolibrary.org/obo/MONDO_0100393 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(1;22) | http://purl.obolibrary.org/obo/MONDO_0100394 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(5;11)(q35;p15) | http://purl.obolibrary.org/obo/MONDO_0100395 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(7;12)(q36;p13) | http://purl.obolibrary.org/obo/MONDO_0100396 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(9;22)(q34.1;q11.2) | http://purl.obolibrary.org/obo/MONDO_0100397 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, inv(3)(q21.3;q26.2) | http://purl.obolibrary.org/obo/MONDO_0100398 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(3;3)(q21.3;q26.2) | http://purl.obolibrary.org/obo/MONDO_0100399 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, inv(16)(p13.1;q22) | http://purl.obolibrary.org/obo/MONDO_0100373 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(16;16)(p13.1;q22) | http://purl.obolibrary.org/obo/MONDO_0100374 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(15;17)(q24;q21) | http://purl.obolibrary.org/obo/MONDO_0100375 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(9;11)(p21.3;q23.3) | http://purl.obolibrary.org/obo/MONDO_0100376 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(10;11)(p12;q23) | http://purl.obolibrary.org/obo/MONDO_0100377 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(10;11)(p11.2;q23) | http://purl.obolibrary.org/obo/MONDO_0100378 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(1;11)(q21;q23) | http://purl.obolibrary.org/obo/MONDO_0100379 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(4;11)(q21;q23) | http://purl.obolibrary.org/obo/MONDO_0100380 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(6;11)(q27;q23) | http://purl.obolibrary.org/obo/MONDO_0100381 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(6;9)(p23;q34.1) | http://purl.obolibrary.org/obo/MONDO_0100382 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(11;19)(q23;p13) | http://purl.obolibrary.org/obo/MONDO_0100383 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(11;19)(q23;p13.1) | http://purl.obolibrary.org/obo/MONDO_0100384 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia, t(11;19)(q23.3;p13.3) | http://purl.obolibrary.org/obo/MONDO_0100385 | http://purl.obolibrary.org/obo/MONDO_0017893 |
acute myeloid leukemia | http://www.ebi.ac.uk/efo/EFO_0000222 | http://purl.obolibrary.org/obo/MONDO_0004643 |
chronic myelogenous leukemia | http://www.ebi.ac.uk/efo/EFO_0000339 | http://purl.obolibrary.org/obo/MONDO_0004643 |
accelerated phase myeloid leukemia | http://www.ebi.ac.uk/efo/EFO_1001755 | http://www.ebi.ac.uk/efo/EFO_0000339 |
Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive | http://www.ebi.ac.uk/efo/EFO_1000131 | http://www.ebi.ac.uk/efo/EFO_0000339 |
Chronic Neutrophilic Leukemia | http://www.ebi.ac.uk/efo/EFO_1000179 | http://www.ebi.ac.uk/efo/EFO_0002428 |
Myelodysplastic/Myeloproliferative Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000388 | http://www.ebi.ac.uk/efo/EFO_0002428 |
chronic myelomonocytic leukemia | http://www.ebi.ac.uk/efo/EFO_1001779 | http://www.ebi.ac.uk/efo/EFO_1000388 |
Juvenile Myelomonocytic Leukemia | http://www.ebi.ac.uk/efo/EFO_1000309 | http://www.ebi.ac.uk/efo/EFO_1001779 |
Therapy-Related Myeloid Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000575 | http://www.ebi.ac.uk/efo/EFO_0002428 |
childhood leukemia | http://purl.obolibrary.org/obo/MONDO_0004355 | http://purl.obolibrary.org/obo/MONDO_0021138 |
childhood acute lymphoblastic leukemia | http://purl.obolibrary.org/obo/MONDO_0000870 | http://purl.obolibrary.org/obo/MONDO_0004355 |
childhood B acute lymphoblastic leukemia | http://www.ebi.ac.uk/efo/EFO_1001946 | http://purl.obolibrary.org/obo/MONDO_0000870 |
adult B acute lymphoblastic leukemia | http://www.ebi.ac.uk/efo/EFO_1001935 | http://www.ebi.ac.uk/efo/EFO_1001946 |
childhood T acute lymphoblastic leukemia | http://www.ebi.ac.uk/efo/EFO_1001947 | http://purl.obolibrary.org/obo/MONDO_0000870 |
primary bone lymphoma | http://purl.obolibrary.org/obo/MONDO_0017814 | http://www.ebi.ac.uk/efo/EFO_1000350 |
bone chondrosarcoma | http://purl.obolibrary.org/obo/MONDO_0000515 | http://www.ebi.ac.uk/efo/EFO_1000350 |
primary central chondrosarcoma | http://www.ebi.ac.uk/efo/EFO_0010832 | http://purl.obolibrary.org/obo/MONDO_0000515 |
gum cancer | http://www.ebi.ac.uk/efo/EFO_0005557 | http://www.ebi.ac.uk/efo/EFO_1000350 |
small cell osteogenic sarcoma | http://purl.obolibrary.org/obo/MONDO_0002630 | http://www.ebi.ac.uk/efo/EFO_1000350 |
cancer affecting bone of limb skeleton | http://purl.obolibrary.org/obo/MONDO_0024311 | http://www.ebi.ac.uk/efo/EFO_1000350 |
cancer of long bone of lower limb | http://purl.obolibrary.org/obo/MONDO_0000952 | http://purl.obolibrary.org/obo/MONDO_0024311 |
Osteochondroma | http://www.ebi.ac.uk/efo/EFO_1000411 | http://www.ebi.ac.uk/efo/EFO_0003820 |
Osteoblastoma | http://www.ebi.ac.uk/efo/EFO_1000410 | http://www.ebi.ac.uk/efo/EFO_0003820 |
chondroma | http://purl.obolibrary.org/obo/MONDO_0002360 | http://purl.obolibrary.org/obo/MONDO_0021581 |
Soft Tissue Chondroma | http://www.ebi.ac.uk/efo/EFO_1000540 | http://purl.obolibrary.org/obo/MONDO_0002360 |
chondrosarcoma | http://www.ebi.ac.uk/efo/EFO_0000333 | http://purl.obolibrary.org/obo/MONDO_0021581 |
mesenchymal chondrosarcoma | http://www.ebi.ac.uk/efo/EFO_1001041 | http://www.ebi.ac.uk/efo/EFO_0000333 |
myxoid chondrosarcoma | http://purl.obolibrary.org/obo/MONDO_0003681 | http://www.ebi.ac.uk/efo/EFO_0000333 |
Fibroblastic Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000255 | http://purl.obolibrary.org/obo/MONDO_0021581 |
fibroma | http://www.ebi.ac.uk/efo/EFO_0002424 | http://www.ebi.ac.uk/efo/EFO_1000255 |
abdominal fibromatosis | http://www.ebi.ac.uk/efo/EFO_1001325 | http://www.ebi.ac.uk/efo/EFO_0002424 |
serous cystadenofibroma | http://www.ebi.ac.uk/efo/EFO_0002510 | http://www.ebi.ac.uk/efo/EFO_0002424 |
desmoplastic fibroma | http://www.ebi.ac.uk/efo/EFO_1001783 | http://www.ebi.ac.uk/efo/EFO_0002424 |
Angiofibroma | http://www.ebi.ac.uk/efo/EFO_1001761 | http://www.ebi.ac.uk/efo/EFO_0002424 |
Adenofibroma | http://www.ebi.ac.uk/efo/EFO_1000070 | http://www.ebi.ac.uk/efo/EFO_0002424 |
serous adenofibroma | http://purl.obolibrary.org/obo/MONDO_0024886 | http://www.ebi.ac.uk/efo/EFO_1000070 |
Ovarian Serous Adenofibroma | http://www.ebi.ac.uk/efo/EFO_1000428 | http://purl.obolibrary.org/obo/MONDO_0024886 |
uterine fibroid | http://www.ebi.ac.uk/efo/EFO_0000731 | http://www.ebi.ac.uk/efo/EFO_0002424 |
uterine corpus epithelioid leiomyoma | http://purl.obolibrary.org/obo/MONDO_0001841 | http://www.ebi.ac.uk/efo/EFO_0000731 |
liver solitary fibrous tumor | http://purl.obolibrary.org/obo/MONDO_0004705 | http://www.ebi.ac.uk/efo/EFO_0002424 |
Tendon Sheath Fibroma | http://www.ebi.ac.uk/efo/EFO_1000561 | http://www.ebi.ac.uk/efo/EFO_0002424 |
myofibroblastoma | http://purl.obolibrary.org/obo/MONDO_0040675 | http://www.ebi.ac.uk/efo/EFO_1000255 |
lymph node palisaded myofibroblastoma | http://purl.obolibrary.org/obo/MONDO_0004528 | http://purl.obolibrary.org/obo/MONDO_0040675 |
fibrosarcoma | http://www.ebi.ac.uk/efo/EFO_0002087 | http://www.ebi.ac.uk/efo/EFO_1000255 |
pediatric fibrosarcoma | http://purl.obolibrary.org/obo/MONDO_0002678 | http://www.ebi.ac.uk/efo/EFO_0002087 |
congenital fibrosarcoma | http://purl.obolibrary.org/obo/MONDO_0004557 | http://purl.obolibrary.org/obo/MONDO_0002678 |
conventional fibrosarcoma | http://purl.obolibrary.org/obo/MONDO_0002677 | http://www.ebi.ac.uk/efo/EFO_0002087 |
liver fibrosarcoma | http://purl.obolibrary.org/obo/MONDO_0004435 | http://www.ebi.ac.uk/efo/EFO_0002087 |
Low Grade Fibromyxoid Sarcoma | http://www.ebi.ac.uk/efo/EFO_1000328 | http://www.ebi.ac.uk/efo/EFO_0002087 |
Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes | http://www.ebi.ac.uk/efo/EFO_1000329 | http://www.ebi.ac.uk/efo/EFO_1000328 |
nodular fasciitis | http://purl.obolibrary.org/obo/MONDO_0004187 | http://www.ebi.ac.uk/efo/EFO_1000255 |
fibromatosis | http://www.ebi.ac.uk/efo/EFO_0000497 | http://www.ebi.ac.uk/efo/EFO_1000255 |
Inclusion Body Fibromatosis | http://www.ebi.ac.uk/efo/EFO_1000301 | http://www.ebi.ac.uk/efo/EFO_0000497 |
Desmoid-type fibromatosis | http://www.ebi.ac.uk/efo/EFO_0009907 | http://www.ebi.ac.uk/efo/EFO_0000497 |
Superficial Fibromatosis | http://www.ebi.ac.uk/efo/EFO_1000556 | http://www.ebi.ac.uk/efo/EFO_0000497 |
Plantar Fibromatosis | http://www.ebi.ac.uk/efo/EFO_1000481 | http://www.ebi.ac.uk/efo/EFO_1000556 |
Penile Fibromatosis | http://www.ebi.ac.uk/efo/EFO_1000466 | http://www.ebi.ac.uk/efo/EFO_1000556 |
Palmar Fibromatosis | http://www.ebi.ac.uk/efo/EFO_1000438 | http://www.ebi.ac.uk/efo/EFO_1000556 |
solitary fibrous tumor | http://purl.obolibrary.org/obo/MONDO_0016238 | http://www.ebi.ac.uk/efo/EFO_1000255 |
pleural solitary fibrous tumor | http://purl.obolibrary.org/obo/MONDO_0021041 | http://purl.obolibrary.org/obo/MONDO_0016238 |
Dedifferentiated Solitary Fibrous Tumor | http://www.ebi.ac.uk/efo/EFO_1000214 | http://purl.obolibrary.org/obo/MONDO_0016238 |
tumor of adipose tissue | http://purl.obolibrary.org/obo/MONDO_0021354 | http://purl.obolibrary.org/obo/MONDO_0021581 |
benign lipomatous neoplasm | http://purl.obolibrary.org/obo/MONDO_0044983 | http://purl.obolibrary.org/obo/MONDO_0021354 |
lipoma | http://www.ebi.ac.uk/efo/EFO_0000759 | http://purl.obolibrary.org/obo/MONDO_0044983 |
familial multiple lipomatosis | http://purl.obolibrary.org/obo/MONDO_0007909 | http://www.ebi.ac.uk/efo/EFO_0000759 |
spindle cell lipoma | http://purl.obolibrary.org/obo/MONDO_0000962 | http://www.ebi.ac.uk/efo/EFO_0000759 |
Angiolipoma | http://www.ebi.ac.uk/efo/EFO_1000085 | http://www.ebi.ac.uk/efo/EFO_0000759 |
lipoblastoma | http://purl.obolibrary.org/obo/MONDO_0016611 | http://purl.obolibrary.org/obo/MONDO_0044983 |
lipomatosis | http://www.ebi.ac.uk/efo/EFO_1000728 | http://purl.obolibrary.org/obo/MONDO_0044983 |
diffuse lipomatosis | http://www.ebi.ac.uk/efo/EFO_1000687 | http://www.ebi.ac.uk/efo/EFO_1000728 |
steroid lipomatosis | http://www.ebi.ac.uk/efo/EFO_1000769 | http://www.ebi.ac.uk/efo/EFO_1000728 |
pelvic lipomatosis | http://www.ebi.ac.uk/efo/EFO_1000748 | http://www.ebi.ac.uk/efo/EFO_1000728 |
multiple symmetric lipomatosis | http://www.ebi.ac.uk/efo/EFO_1000737 | http://www.ebi.ac.uk/efo/EFO_1000728 |
mediastinal lipomatosis | http://www.ebi.ac.uk/efo/EFO_1000732 | http://www.ebi.ac.uk/efo/EFO_1000728 |
adiposis dolorosa | http://www.ebi.ac.uk/efo/EFO_1000667 | http://www.ebi.ac.uk/efo/EFO_1000728 |
Atypical Lipomatous Tumor | http://www.ebi.ac.uk/efo/EFO_1000099 | http://purl.obolibrary.org/obo/MONDO_0021354 |
lipomatous cancer | http://purl.obolibrary.org/obo/MONDO_0002813 | http://purl.obolibrary.org/obo/MONDO_0021354 |
liposarcoma | http://www.ebi.ac.uk/efo/EFO_0000569 | http://purl.obolibrary.org/obo/MONDO_0002813 |
mixed liposarcoma | http://purl.obolibrary.org/obo/MONDO_0003594 | http://www.ebi.ac.uk/efo/EFO_0000569 |
myxoid/round cell liposarcoma | http://purl.obolibrary.org/obo/MONDO_0020561 | http://www.ebi.ac.uk/efo/EFO_0000569 |
round cell liposarcoma | http://www.ebi.ac.uk/efo/EFO_0003084 | http://purl.obolibrary.org/obo/MONDO_0020561 |
myxoid liposarcoma | http://www.ebi.ac.uk/efo/EFO_0000613 | http://purl.obolibrary.org/obo/MONDO_0020561 |
dedifferentiated liposarcoma | http://www.ebi.ac.uk/efo/EFO_0003085 | http://www.ebi.ac.uk/efo/EFO_0000569 |
pleomorphic liposarcoma | http://www.ebi.ac.uk/efo/EFO_0003083 | http://www.ebi.ac.uk/efo/EFO_0000569 |
well-differentiated liposarcoma | http://www.ebi.ac.uk/efo/EFO_0000736 | http://www.ebi.ac.uk/efo/EFO_0000569 |
Tenosynovial Giant Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000562 | http://purl.obolibrary.org/obo/MONDO_0021581 |
neoplasm of thorax | http://purl.obolibrary.org/obo/MONDO_0021350 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Heart neoplasm | http://www.ebi.ac.uk/efo/EFO_1001339 | http://purl.obolibrary.org/obo/MONDO_0021350 |
heart cancer | http://purl.obolibrary.org/obo/MONDO_0001340 | http://www.ebi.ac.uk/efo/EFO_1001339 |
pericardium cancer | http://purl.obolibrary.org/obo/MONDO_0001322 | http://purl.obolibrary.org/obo/MONDO_0001340 |
heart sarcoma | http://purl.obolibrary.org/obo/MONDO_0003354 | http://purl.obolibrary.org/obo/MONDO_0001340 |
heart leiomyosarcoma | http://purl.obolibrary.org/obo/MONDO_0003353 | http://purl.obolibrary.org/obo/MONDO_0003354 |
inherited cardiac tumor | http://purl.obolibrary.org/obo/MONDO_0017129 | http://www.ebi.ac.uk/efo/EFO_1001339 |
familial atrial myxoma | http://purl.obolibrary.org/obo/MONDO_0009719 | http://purl.obolibrary.org/obo/MONDO_0017129 |
Genetic cardiac tumor | http://www.orpha.net/ORDO/Orphanet_271841 | http://purl.obolibrary.org/obo/MONDO_0017129 |
Familial atrial myxoma | http://www.orpha.net/ORDO/Orphanet_615 | http://www.orpha.net/ORDO/Orphanet_271841 |
benign neoplasm of heart | http://purl.obolibrary.org/obo/MONDO_0021450 | http://www.ebi.ac.uk/efo/EFO_1001339 |
Cardiac Rhabdomyoma | http://www.ebi.ac.uk/efo/EFO_1000150 | http://purl.obolibrary.org/obo/MONDO_0021450 |
lung neoplasm | http://purl.obolibrary.org/obo/MONDO_0021117 | http://purl.obolibrary.org/obo/MONDO_0021350 |
lung PEComa | http://purl.obolibrary.org/obo/MONDO_0020588 | http://purl.obolibrary.org/obo/MONDO_0021117 |
pulmonary sulcus neoplasm | http://purl.obolibrary.org/obo/MONDO_0024813 | http://purl.obolibrary.org/obo/MONDO_0021117 |
Pancoast tumor | http://www.ebi.ac.uk/efo/EFO_1001080 | http://purl.obolibrary.org/obo/MONDO_0024813 |
pulmonary neuroendocrine tumor | http://www.ebi.ac.uk/efo/EFO_0005220 | http://purl.obolibrary.org/obo/MONDO_0021117 |
lung carcinoid tumor | http://www.ebi.ac.uk/efo/EFO_1000037 | http://www.ebi.ac.uk/efo/EFO_0005220 |
lung benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0002732 | http://purl.obolibrary.org/obo/MONDO_0021117 |
lung cancer | http://purl.obolibrary.org/obo/MONDO_0008903 | http://purl.obolibrary.org/obo/MONDO_0021117 |
lung lymphoma | http://purl.obolibrary.org/obo/MONDO_0003987 | http://purl.obolibrary.org/obo/MONDO_0008903 |
lung non-Hodgkin lymphoma | http://purl.obolibrary.org/obo/MONDO_0020644 | http://purl.obolibrary.org/obo/MONDO_0003987 |
Primary Pulmonary Diffuse Large B-Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000495 | http://purl.obolibrary.org/obo/MONDO_0020644 |
lung sarcoma | http://purl.obolibrary.org/obo/MONDO_0002426 | http://purl.obolibrary.org/obo/MONDO_0008903 |
thoracic cancer | http://purl.obolibrary.org/obo/MONDO_0003274 | http://purl.obolibrary.org/obo/MONDO_0021350 |
breast cancer | http://purl.obolibrary.org/obo/MONDO_0007254 | http://purl.obolibrary.org/obo/MONDO_0003274 |
breast lymphoma | http://purl.obolibrary.org/obo/MONDO_0003661 | http://purl.obolibrary.org/obo/MONDO_0007254 |
Breast Diffuse Large B-Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000144 | http://purl.obolibrary.org/obo/MONDO_0003661 |
Malignant Breast Phyllodes Tumor | http://www.ebi.ac.uk/efo/EFO_0008545 | http://purl.obolibrary.org/obo/MONDO_0007254 |
breast sarcoma | http://purl.obolibrary.org/obo/MONDO_0002490 | http://purl.obolibrary.org/obo/MONDO_0007254 |
breast synovial sarcoma | http://www.ebi.ac.uk/efo/EFO_1000019 | http://purl.obolibrary.org/obo/MONDO_0002490 |
esophageal cancer | http://purl.obolibrary.org/obo/MONDO_0007576 | http://purl.obolibrary.org/obo/MONDO_0003274 |
Askin Tumor | http://www.ebi.ac.uk/efo/EFO_1000095 | http://purl.obolibrary.org/obo/MONDO_0003274 |
mediastinal cancer | http://www.ebi.ac.uk/efo/EFO_0007362 | http://purl.obolibrary.org/obo/MONDO_0003274 |
mediastinal soft tissue cancer | http://purl.obolibrary.org/obo/MONDO_0037743 | http://www.ebi.ac.uk/efo/EFO_0007362 |
mediastinum sarcoma | http://purl.obolibrary.org/obo/MONDO_0002852 | http://purl.obolibrary.org/obo/MONDO_0037743 |
mediastinum leiomyosarcoma | http://purl.obolibrary.org/obo/MONDO_0003376 | http://purl.obolibrary.org/obo/MONDO_0002852 |
mediastinal malignant lymphoma | http://purl.obolibrary.org/obo/MONDO_0004021 | http://www.ebi.ac.uk/efo/EFO_0007362 |
thymic lymphoma | http://www.ebi.ac.uk/efo/EFO_1000054 | http://purl.obolibrary.org/obo/MONDO_0004021 |
Mediastinal Neuroblastoma | http://www.ebi.ac.uk/efo/EFO_1000367 | http://www.ebi.ac.uk/efo/EFO_0007362 |
Mediastinal Malignant Germ Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000366 | http://www.ebi.ac.uk/efo/EFO_0007362 |
mediastinal yolk sac tumor | http://purl.obolibrary.org/obo/MONDO_0023726 | http://www.ebi.ac.uk/efo/EFO_1000366 |
Malignant Pleural Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000362 | http://purl.obolibrary.org/obo/MONDO_0003274 |
thoracic benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000634 | http://purl.obolibrary.org/obo/MONDO_0021350 |
breast benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000620 | http://purl.obolibrary.org/obo/MONDO_0000634 |
breast neoplasm | http://www.ebi.ac.uk/efo/EFO_0003869 | http://purl.obolibrary.org/obo/MONDO_0021350 |
breast fibroepithelial neoplasm | http://purl.obolibrary.org/obo/MONDO_0021046 | http://www.ebi.ac.uk/efo/EFO_0003869 |
breast phyllodes tumor | http://purl.obolibrary.org/obo/MONDO_0021047 | http://purl.obolibrary.org/obo/MONDO_0021046 |
breast hyperplasia | http://www.ebi.ac.uk/efo/EFO_0008492 | http://www.ebi.ac.uk/efo/EFO_0003869 |
ductal breast hyperplasia | http://www.ebi.ac.uk/efo/EFO_0008500 | http://www.ebi.ac.uk/efo/EFO_0008492 |
atypical ductal hyperplasia | http://www.ebi.ac.uk/efo/EFO_0008491 | http://www.ebi.ac.uk/efo/EFO_0008500 |
nipple neoplasm | http://purl.obolibrary.org/obo/MONDO_0002482 | http://www.ebi.ac.uk/efo/EFO_0003869 |
intraductal breast neoplasm | http://purl.obolibrary.org/obo/MONDO_0002488 | http://www.ebi.ac.uk/efo/EFO_0003869 |
breast intraductal proliferative lesion | http://purl.obolibrary.org/obo/MONDO_0004007 | http://purl.obolibrary.org/obo/MONDO_0002488 |
Usual Ductal Breast Hyperplasia | http://www.ebi.ac.uk/efo/EFO_1000612 | http://purl.obolibrary.org/obo/MONDO_0004007 |
Fibroadenoma | http://www.ebi.ac.uk/efo/EFO_1000254 | http://www.ebi.ac.uk/efo/EFO_0003869 |
Intraductal Breast Papilloma | http://www.ebi.ac.uk/efo/EFO_1000306 | http://www.ebi.ac.uk/efo/EFO_0003869 |
Columnar Cell Hyperplasia of the Breast | http://www.ebi.ac.uk/efo/EFO_1000199 | http://www.ebi.ac.uk/efo/EFO_0003869 |
breast cyst | http://www.ebi.ac.uk/efo/EFO_1000848 | http://www.ebi.ac.uk/efo/EFO_0003869 |
neoplasm of pericardium | http://purl.obolibrary.org/obo/MONDO_0021381 | http://purl.obolibrary.org/obo/MONDO_0021350 |
neoplasm of mediastinum | http://purl.obolibrary.org/obo/MONDO_0021386 | http://purl.obolibrary.org/obo/MONDO_0021350 |
mediastinal germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0021067 | http://purl.obolibrary.org/obo/MONDO_0021386 |
mediastinal mesenchymal tumor | http://purl.obolibrary.org/obo/MONDO_0003512 | http://purl.obolibrary.org/obo/MONDO_0021386 |
mediastinal neural neoplasm | http://purl.obolibrary.org/obo/MONDO_0003098 | http://purl.obolibrary.org/obo/MONDO_0021386 |
neoplasm of esophagus | http://purl.obolibrary.org/obo/MONDO_0021355 | http://purl.obolibrary.org/obo/MONDO_0021350 |
esophageal neuroendocrine tumor | http://purl.obolibrary.org/obo/MONDO_0003649 | http://purl.obolibrary.org/obo/MONDO_0021355 |
Common Hematopoietic Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000201 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Ductal or Ductular Proliferation | http://www.ebi.ac.uk/efo/EFO_1000222 | http://www.ebi.ac.uk/efo/EFO_0000616 |
giant cell tumor | http://purl.obolibrary.org/obo/MONDO_0002171 | http://www.ebi.ac.uk/efo/EFO_0000616 |
malignant giant cell tumor | http://purl.obolibrary.org/obo/MONDO_0002402 | http://purl.obolibrary.org/obo/MONDO_0002171 |
Giant Cell Tumor of Soft Tissue | http://www.ebi.ac.uk/efo/EFO_1000281 | http://purl.obolibrary.org/obo/MONDO_0002402 |
cancer | http://www.ebi.ac.uk/efo/EFO_0000311 | http://www.ebi.ac.uk/efo/EFO_0000616 |
myeloproliferative disorder | http://www.ebi.ac.uk/efo/EFO_0004251 | http://www.ebi.ac.uk/efo/EFO_0000311 |
Chronic Eosinophilic Leukemia, Not Otherwise Specified | http://www.ebi.ac.uk/efo/EFO_1000178 | http://www.ebi.ac.uk/efo/EFO_0004251 |
head and neck malignant neoplasia | http://www.ebi.ac.uk/efo/EFO_0006859 | http://www.ebi.ac.uk/efo/EFO_0000311 |
malignant tumor of neck | http://purl.obolibrary.org/obo/MONDO_0021310 | http://www.ebi.ac.uk/efo/EFO_0006859 |
pharynx cancer | http://www.ebi.ac.uk/efo/EFO_0005577 | http://purl.obolibrary.org/obo/MONDO_0021310 |
oropharynx cancer | http://www.ebi.ac.uk/efo/EFO_1001931 | http://www.ebi.ac.uk/efo/EFO_0005577 |
Waldeyer's ring cancer | http://purl.obolibrary.org/obo/MONDO_0004685 | http://www.ebi.ac.uk/efo/EFO_1001931 |
tonsil cancer | http://www.ebi.ac.uk/efo/EFO_1001214 | http://purl.obolibrary.org/obo/MONDO_0004685 |
hypopharynx cancer | http://www.ebi.ac.uk/efo/EFO_0007321 | http://www.ebi.ac.uk/efo/EFO_0005577 |
malignant tumor of floor of mouth | http://purl.obolibrary.org/obo/MONDO_0021320 | http://www.ebi.ac.uk/efo/EFO_0006859 |
nasal cavity cancer | http://purl.obolibrary.org/obo/MONDO_0001128 | http://www.ebi.ac.uk/efo/EFO_0006859 |
malignant ear neoplasm | http://purl.obolibrary.org/obo/MONDO_0003277 | http://www.ebi.ac.uk/efo/EFO_0006859 |
middle ear cancer | http://purl.obolibrary.org/obo/MONDO_0003275 | http://purl.obolibrary.org/obo/MONDO_0003277 |
Bazex-Dupré-Christol syndrome | http://www.orpha.net/ORDO/Orphanet_113 | http://www.ebi.ac.uk/efo/EFO_0006859 |
Follicular atrophoderma-basal cell carcinoma | http://www.orpha.net/ORDO/Orphanet_79459 | http://www.orpha.net/ORDO/Orphanet_113 |
oral cavity cancer | http://www.ebi.ac.uk/efo/EFO_0005570 | http://www.ebi.ac.uk/efo/EFO_0006859 |
lip cancer | http://www.ebi.ac.uk/efo/EFO_1001019 | http://www.ebi.ac.uk/efo/EFO_0005570 |
squamous odontogenic tumor | http://www.ebi.ac.uk/efo/EFO_1001848 | http://www.ebi.ac.uk/efo/EFO_0005570 |
salivary gland cancer | http://purl.obolibrary.org/obo/MONDO_0004669 | http://www.ebi.ac.uk/efo/EFO_0005570 |
malignant tumor of minor salivary gland | http://purl.obolibrary.org/obo/MONDO_0021316 | http://purl.obolibrary.org/obo/MONDO_0004669 |
major salivary gland cancer | http://purl.obolibrary.org/obo/MONDO_0044743 | http://purl.obolibrary.org/obo/MONDO_0004669 |
parotid gland cancer | http://purl.obolibrary.org/obo/MONDO_0004700 | http://purl.obolibrary.org/obo/MONDO_0044743 |
vestibule of mouth cancer | http://purl.obolibrary.org/obo/MONDO_0004727 | http://www.ebi.ac.uk/efo/EFO_0005570 |
ocular cancer | http://purl.obolibrary.org/obo/MONDO_0002236 | http://www.ebi.ac.uk/efo/EFO_0006859 |
uveal cancer | http://www.ebi.ac.uk/efo/EFO_1001230 | http://purl.obolibrary.org/obo/MONDO_0002236 |
Uveal Melanoma | http://www.ebi.ac.uk/efo/EFO_1000616 | http://www.ebi.ac.uk/efo/EFO_1001230 |
spindle cell intraocular melanoma | http://purl.obolibrary.org/obo/MONDO_0003744 | http://www.ebi.ac.uk/efo/EFO_1000616 |
choroidal melanoma | http://www.ebi.ac.uk/efo/EFO_0009093 | http://www.ebi.ac.uk/efo/EFO_1000616 |
Epithelioid Cell Uveal Melanoma | http://www.ebi.ac.uk/efo/EFO_1000244 | http://www.ebi.ac.uk/efo/EFO_1000616 |
Mixed Cell Uveal Melanoma | http://www.ebi.ac.uk/efo/EFO_1000380 | http://www.ebi.ac.uk/efo/EFO_1000616 |
choroid cancer | http://www.ebi.ac.uk/efo/EFO_1000866 | http://www.ebi.ac.uk/efo/EFO_1001230 |
conjunctival cancer | http://purl.obolibrary.org/obo/MONDO_0003454 | http://purl.obolibrary.org/obo/MONDO_0002236 |
Conjunctival Melanoma | http://www.ebi.ac.uk/efo/EFO_1000204 | http://purl.obolibrary.org/obo/MONDO_0003454 |
lacrimal system cancer | http://purl.obolibrary.org/obo/MONDO_0002460 | http://purl.obolibrary.org/obo/MONDO_0002236 |
lacrimal duct cancer | http://purl.obolibrary.org/obo/MONDO_0001580 | http://purl.obolibrary.org/obo/MONDO_0002460 |
lacrimal gland cancer | http://purl.obolibrary.org/obo/MONDO_0002464 | http://purl.obolibrary.org/obo/MONDO_0002460 |
retinal cancer | http://www.ebi.ac.uk/efo/EFO_0005716 | http://purl.obolibrary.org/obo/MONDO_0002236 |
retinal cell cancer | http://purl.obolibrary.org/obo/MONDO_0004338 | http://www.ebi.ac.uk/efo/EFO_0005716 |
retinoblastoma | http://purl.obolibrary.org/obo/MONDO_0008380 | http://purl.obolibrary.org/obo/MONDO_0004338 |
unilateral retinoblastoma | http://purl.obolibrary.org/obo/MONDO_0003076 | http://purl.obolibrary.org/obo/MONDO_0008380 |
retinoblastoma (nonhereditary) | http://www.ebi.ac.uk/efo/EFO_0005717 | http://purl.obolibrary.org/obo/MONDO_0008380 |
hereditary retinoblastoma | http://purl.obolibrary.org/obo/MONDO_0018160 | http://purl.obolibrary.org/obo/MONDO_0008380 |
Ocular Melanoma | http://www.ebi.ac.uk/efo/EFO_1000403 | http://purl.obolibrary.org/obo/MONDO_0002236 |
Ocular Melanoma with Extraocular Extension | http://www.ebi.ac.uk/efo/EFO_1000404 | http://www.ebi.ac.uk/efo/EFO_1000403 |
cranial nerve malignant neoplasm | http://www.ebi.ac.uk/efo/EFO_1000884 | http://www.ebi.ac.uk/efo/EFO_0006859 |
Olfactory Neuroblastoma | http://www.ebi.ac.uk/efo/EFO_1000407 | http://www.ebi.ac.uk/efo/EFO_1000884 |
malignant endocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0021069 | http://www.ebi.ac.uk/efo/EFO_0000311 |
digestive system melanoma | http://purl.obolibrary.org/obo/MONDO_0045070 | http://purl.obolibrary.org/obo/MONDO_0021069 |
malignant tumor of parathyroid gland | http://purl.obolibrary.org/obo/MONDO_0021311 | http://purl.obolibrary.org/obo/MONDO_0021069 |
pineal gland cancer | http://purl.obolibrary.org/obo/MONDO_0003249 | http://purl.obolibrary.org/obo/MONDO_0021069 |
Pineoblastoma | http://www.ebi.ac.uk/efo/EFO_1000475 | http://purl.obolibrary.org/obo/MONDO_0003249 |
ovarian neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0002481 | http://purl.obolibrary.org/obo/MONDO_0021069 |
thymus cancer | http://purl.obolibrary.org/obo/MONDO_0002586 | http://purl.obolibrary.org/obo/MONDO_0021069 |
liver cancer | http://purl.obolibrary.org/obo/MONDO_0002691 | http://purl.obolibrary.org/obo/MONDO_0021069 |
biliary tract cancer | http://purl.obolibrary.org/obo/MONDO_0003060 | http://purl.obolibrary.org/obo/MONDO_0002691 |
bile duct cancer | http://purl.obolibrary.org/obo/MONDO_0003059 | http://purl.obolibrary.org/obo/MONDO_0003060 |
malignant tumor of extrahepatic bile duct | http://purl.obolibrary.org/obo/MONDO_0021321 | http://purl.obolibrary.org/obo/MONDO_0003059 |
ampulla of vater cancer | http://purl.obolibrary.org/obo/MONDO_0000919 | http://purl.obolibrary.org/obo/MONDO_0021321 |
intrahepatic bile duct cancer | http://purl.obolibrary.org/obo/MONDO_0001487 | http://purl.obolibrary.org/obo/MONDO_0003059 |
liver sarcoma | http://purl.obolibrary.org/obo/MONDO_0002397 | http://purl.obolibrary.org/obo/MONDO_0002691 |
undifferentiated sarcoma | http://www.ebi.ac.uk/efo/EFO_0000730 | http://purl.obolibrary.org/obo/MONDO_0002397 |
liver lymphoma | http://purl.obolibrary.org/obo/MONDO_0004695 | http://purl.obolibrary.org/obo/MONDO_0002691 |
Calcifying Nested Epithelial Stromal Tumor of the Liver | http://www.ebi.ac.uk/efo/EFO_1000149 | http://purl.obolibrary.org/obo/MONDO_0002691 |
adrenal gland cancer | http://purl.obolibrary.org/obo/MONDO_0002817 | http://purl.obolibrary.org/obo/MONDO_0021069 |
malignant tumor of adrenal cortex | http://purl.obolibrary.org/obo/MONDO_0021312 | http://purl.obolibrary.org/obo/MONDO_0002817 |
adrenal medulla cancer | http://purl.obolibrary.org/obo/MONDO_0003606 | http://purl.obolibrary.org/obo/MONDO_0002817 |
Adrenal Gland Neuroblastoma | http://www.ebi.ac.uk/efo/EFO_1000075 | http://purl.obolibrary.org/obo/MONDO_0003606 |
thyroid cancer | http://purl.obolibrary.org/obo/MONDO_0002108 | http://purl.obolibrary.org/obo/MONDO_0021069 |
thyroid lymphoma | http://purl.obolibrary.org/obo/MONDO_0019962 | http://purl.obolibrary.org/obo/MONDO_0002108 |
Thyroid Gland Diffuse Large B-Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000587 | http://purl.obolibrary.org/obo/MONDO_0019962 |
primary melanoma of the central nervous system | http://purl.obolibrary.org/obo/MONDO_0016747 | http://purl.obolibrary.org/obo/MONDO_0021069 |
leptomeningeal melanoma | http://purl.obolibrary.org/obo/MONDO_0003761 | http://purl.obolibrary.org/obo/MONDO_0016747 |
Branchioma | http://www.ebi.ac.uk/efo/EFO_1001277 | http://www.ebi.ac.uk/efo/EFO_0000311 |
malignant spindle cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0020663 | http://www.ebi.ac.uk/efo/EFO_0000311 |
spindle cell sarcoma | http://purl.obolibrary.org/obo/MONDO_0002927 | http://purl.obolibrary.org/obo/MONDO_0020663 |
Intimal Sarcoma | http://www.ebi.ac.uk/efo/EFO_1000305 | http://purl.obolibrary.org/obo/MONDO_0002927 |
high grade malignant neoplasm | http://purl.obolibrary.org/obo/MONDO_0020665 | http://www.ebi.ac.uk/efo/EFO_0000311 |
malignant glioma | http://purl.obolibrary.org/obo/MONDO_0100342 | http://purl.obolibrary.org/obo/MONDO_0020665 |
brain glioma | http://purl.obolibrary.org/obo/MONDO_0005499 | http://purl.obolibrary.org/obo/MONDO_0100342 |
brain glioblastoma | http://www.ebi.ac.uk/efo/EFO_0006545 | http://purl.obolibrary.org/obo/MONDO_0005499 |
gliosarcoma | http://www.ebi.ac.uk/efo/EFO_1001465 | http://www.ebi.ac.uk/efo/EFO_0006545 |
Brain Stem Glioblastoma | http://www.ebi.ac.uk/efo/EFO_1000141 | http://www.ebi.ac.uk/efo/EFO_0006545 |
diencephalic astrocytomas | http://purl.obolibrary.org/obo/MONDO_0003169 | http://purl.obolibrary.org/obo/MONDO_0005499 |
ependymal tumor of brain | http://purl.obolibrary.org/obo/MONDO_0004245 | http://purl.obolibrary.org/obo/MONDO_0005499 |
supratentorial ependymal tumor | http://purl.obolibrary.org/obo/MONDO_0020687 | http://purl.obolibrary.org/obo/MONDO_0004245 |
childhood supratentorial ependymoma | http://www.ebi.ac.uk/efo/EFO_0008495 | http://purl.obolibrary.org/obo/MONDO_0020687 |
gliomatosis cerebri | http://purl.obolibrary.org/obo/MONDO_0016683 | http://purl.obolibrary.org/obo/MONDO_0005499 |
Brain Stem Glioma | http://www.ebi.ac.uk/efo/EFO_1000142 | http://purl.obolibrary.org/obo/MONDO_0005499 |
childhood brain stem glioma | http://purl.obolibrary.org/obo/MONDO_0003869 | http://www.ebi.ac.uk/efo/EFO_1000142 |
diffuse intrinsic pontine glioma | http://www.ebi.ac.uk/efo/EFO_1000026 | http://purl.obolibrary.org/obo/MONDO_0003869 |
brain stem astrocytic neoplasm | http://purl.obolibrary.org/obo/MONDO_0003173 | http://www.ebi.ac.uk/efo/EFO_1000142 |
spinal cord glioma | http://purl.obolibrary.org/obo/MONDO_0002542 | http://purl.obolibrary.org/obo/MONDO_0100342 |
ependymal tumor of spinal cord | http://purl.obolibrary.org/obo/MONDO_0021546 | http://purl.obolibrary.org/obo/MONDO_0002542 |
spinal cord ependymoma | http://purl.obolibrary.org/obo/MONDO_0003473 | http://purl.obolibrary.org/obo/MONDO_0021546 |
Spinal Cord Astrocytoma | http://www.ebi.ac.uk/efo/EFO_1000544 | http://purl.obolibrary.org/obo/MONDO_0002542 |
oligodendroglial tumor | http://purl.obolibrary.org/obo/MONDO_0018744 | http://purl.obolibrary.org/obo/MONDO_0100342 |
anaplastic oligodendroglioma | http://www.ebi.ac.uk/efo/EFO_0002501 | http://purl.obolibrary.org/obo/MONDO_0018744 |
oligodendroglioma | http://www.ebi.ac.uk/efo/EFO_0000632 | http://purl.obolibrary.org/obo/MONDO_0018744 |
high grade astrocytic tumor | http://purl.obolibrary.org/obo/MONDO_0016680 | http://purl.obolibrary.org/obo/MONDO_0100342 |
anaplastic astrocytoma | http://www.ebi.ac.uk/efo/EFO_0002499 | http://purl.obolibrary.org/obo/MONDO_0016680 |
glioblastoma multiforme | http://www.ebi.ac.uk/efo/EFO_0000519 | http://purl.obolibrary.org/obo/MONDO_0016680 |
Polar Spongioblastoma | http://www.ebi.ac.uk/efo/EFO_1000488 | http://www.ebi.ac.uk/efo/EFO_0000519 |
oligoastrocytic tumor | http://purl.obolibrary.org/obo/MONDO_0016701 | http://purl.obolibrary.org/obo/MONDO_0100342 |
oligoastrocytoma | http://www.ebi.ac.uk/efo/EFO_0000630 | http://purl.obolibrary.org/obo/MONDO_0016701 |
anaplastic oligoastrocytoma | http://www.ebi.ac.uk/efo/EFO_0002500 | http://www.ebi.ac.uk/efo/EFO_0000630 |
grade III glioma | http://purl.obolibrary.org/obo/MONDO_0021640 | http://purl.obolibrary.org/obo/MONDO_0100342 |
anaplastic ependymoma | http://purl.obolibrary.org/obo/MONDO_0016700 | http://purl.obolibrary.org/obo/MONDO_0021640 |
anaplastic cancer | http://purl.obolibrary.org/obo/MONDO_0020633 | http://www.ebi.ac.uk/efo/EFO_0000311 |
Central Nervous System Anaplastic Large Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000156 | http://purl.obolibrary.org/obo/MONDO_0020633 |
integumentary system cancer | http://purl.obolibrary.org/obo/MONDO_0000653 | http://www.ebi.ac.uk/efo/EFO_0000311 |
Breast Mucosa-Associated Lymphoid Tissue Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000146 | http://purl.obolibrary.org/obo/MONDO_0000653 |
musculoskeletal system cancer | http://purl.obolibrary.org/obo/MONDO_0000637 | http://www.ebi.ac.uk/efo/EFO_0000311 |
muscle cancer | http://www.ebi.ac.uk/efo/EFO_0007384 | http://purl.obolibrary.org/obo/MONDO_0000637 |
smooth muscle cancer | http://purl.obolibrary.org/obo/MONDO_0002924 | http://www.ebi.ac.uk/efo/EFO_0007384 |
leiomyosarcoma | http://www.ebi.ac.uk/efo/EFO_0000564 | http://purl.obolibrary.org/obo/MONDO_0002924 |
ovarian leiomyosarcoma | http://www.ebi.ac.uk/efo/EFO_0006718 | http://www.ebi.ac.uk/efo/EFO_0000564 |
granular cell leiomyosarcoma | http://purl.obolibrary.org/obo/MONDO_0003350 | http://www.ebi.ac.uk/efo/EFO_0000564 |
uterine leiomyosarcoma | http://www.ebi.ac.uk/efo/EFO_1001974 | http://www.ebi.ac.uk/efo/EFO_0000564 |
vulvar leiomyosarcoma | http://www.ebi.ac.uk/efo/EFO_1001975 | http://www.ebi.ac.uk/efo/EFO_0000564 |
skeletal muscle cancer | http://purl.obolibrary.org/obo/MONDO_0002847 | http://www.ebi.ac.uk/efo/EFO_0007384 |
myxofibrosarcoma | http://purl.obolibrary.org/obo/MONDO_0019202 | http://purl.obolibrary.org/obo/MONDO_0002847 |
rhabdomyosarcoma | http://www.ebi.ac.uk/efo/EFO_0002918 | http://purl.obolibrary.org/obo/MONDO_0002847 |
pleomorphic rhabdomyosarcoma | http://purl.obolibrary.org/obo/MONDO_0017386 | http://www.ebi.ac.uk/efo/EFO_0002918 |
rhabdomyosarcoma with mixed embryonal and alveolar features | http://purl.obolibrary.org/obo/MONDO_0002863 | http://www.ebi.ac.uk/efo/EFO_0002918 |
embryonal rhabdomyosarcoma | http://www.ebi.ac.uk/efo/EFO_0000437 | http://www.ebi.ac.uk/efo/EFO_0002918 |
uterine corpus rhabdomyosarcoma | http://purl.obolibrary.org/obo/MONDO_0016260 | http://www.ebi.ac.uk/efo/EFO_0002918 |
alveolar rhabdomyosarcoma | http://www.ebi.ac.uk/efo/EFO_0000248 | http://www.ebi.ac.uk/efo/EFO_0002918 |
Prostate Rhabdomyosarcoma | http://www.ebi.ac.uk/efo/EFO_1000498 | http://www.ebi.ac.uk/efo/EFO_0002918 |
immune system cancer | http://purl.obolibrary.org/obo/MONDO_0000621 | http://www.ebi.ac.uk/efo/EFO_0000311 |
multiple myeloma | http://www.ebi.ac.uk/efo/EFO_0001378 | http://purl.obolibrary.org/obo/MONDO_0000621 |
asymptomatic myeloma | http://www.ebi.ac.uk/efo/EFO_0003073 | http://www.ebi.ac.uk/efo/EFO_0001378 |
lymphatic system cancer | http://purl.obolibrary.org/obo/MONDO_0000612 | http://purl.obolibrary.org/obo/MONDO_0000621 |
lymph node cancer | http://purl.obolibrary.org/obo/MONDO_0001082 | http://purl.obolibrary.org/obo/MONDO_0000612 |
lymph node metastatic carcinoma | http://www.ebi.ac.uk/efo/EFO_0004906 | http://purl.obolibrary.org/obo/MONDO_0001082 |
reticulum cell sarcoma | http://www.ebi.ac.uk/efo/EFO_0005287 | http://purl.obolibrary.org/obo/MONDO_0000612 |
spleen cancer | http://www.ebi.ac.uk/efo/EFO_0007491 | http://purl.obolibrary.org/obo/MONDO_0000612 |
spleen angiosarcoma | http://purl.obolibrary.org/obo/MONDO_0002376 | http://www.ebi.ac.uk/efo/EFO_0007491 |
marginal zone B-cell lymphoma | http://www.ebi.ac.uk/efo/EFO_1000630 | http://www.ebi.ac.uk/efo/EFO_0007491 |
splenic diffuse red pulp small B-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0017599 | http://www.ebi.ac.uk/efo/EFO_1000630 |
nodal marginal zone B-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0019465 | http://www.ebi.ac.uk/efo/EFO_1000630 |
MALT lymphoma | http://www.ebi.ac.uk/efo/EFO_0000191 | http://www.ebi.ac.uk/efo/EFO_1000630 |
Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000537 | http://www.ebi.ac.uk/efo/EFO_0000191 |
Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000591 | http://www.ebi.ac.uk/efo/EFO_0000191 |
Splenic Marginal Zone Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000550 | http://www.ebi.ac.uk/efo/EFO_1000630 |
dendritic cell sarcoma | http://purl.obolibrary.org/obo/MONDO_0004380 | http://purl.obolibrary.org/obo/MONDO_0000621 |
follicular dendritic cell sarcoma | http://www.ebi.ac.uk/efo/EFO_0007276 | http://purl.obolibrary.org/obo/MONDO_0004380 |
Langerhans cell sarcoma | http://www.ebi.ac.uk/efo/EFO_0007336 | http://purl.obolibrary.org/obo/MONDO_0004380 |
interdigitating dendritic cell sarcoma | http://www.ebi.ac.uk/efo/EFO_0007329 | http://purl.obolibrary.org/obo/MONDO_0004380 |
Central Nervous System Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000157 | http://purl.obolibrary.org/obo/MONDO_0000621 |
central nervous system non-hodgkin lymphoma | http://purl.obolibrary.org/obo/MONDO_0044887 | http://www.ebi.ac.uk/efo/EFO_1000157 |
diffuse large B-cell lymphoma of the central nervous system | http://purl.obolibrary.org/obo/MONDO_0017596 | http://purl.obolibrary.org/obo/MONDO_0044887 |
Colorectal Diffuse Large B-Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000191 | http://purl.obolibrary.org/obo/MONDO_0000621 |
Colon Burkitt Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000182 | http://purl.obolibrary.org/obo/MONDO_0000621 |
Small Intestinal Enteropathy-Associated T-Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000535 | http://purl.obolibrary.org/obo/MONDO_0000621 |
Small Intestinal Diffuse Large B-Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000534 | http://purl.obolibrary.org/obo/MONDO_0000621 |
Small Intestinal Burkitt Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000533 | http://purl.obolibrary.org/obo/MONDO_0000621 |
Mast Cell Sarcoma | http://www.ebi.ac.uk/efo/EFO_1000364 | http://purl.obolibrary.org/obo/MONDO_0000621 |
malignant soft tissue neoplasm | http://purl.obolibrary.org/obo/MONDO_0024637 | http://www.ebi.ac.uk/efo/EFO_0000311 |
soft tissue sarcoma | http://www.ebi.ac.uk/efo/EFO_1001968 | http://purl.obolibrary.org/obo/MONDO_0024637 |
myxosarcoma | http://www.ebi.ac.uk/efo/EFO_1001056 | http://www.ebi.ac.uk/efo/EFO_1001968 |
bladder sarcoma | http://purl.obolibrary.org/obo/MONDO_0001374 | http://www.ebi.ac.uk/efo/EFO_1001968 |
epithelioid sarcoma | http://purl.obolibrary.org/obo/MONDO_0017387 | http://www.ebi.ac.uk/efo/EFO_1001968 |
synovial sarcoma | http://www.ebi.ac.uk/efo/EFO_0001376 | http://www.ebi.ac.uk/efo/EFO_1001968 |
biphasic synovial sarcoma | http://purl.obolibrary.org/obo/MONDO_0003468 | http://www.ebi.ac.uk/efo/EFO_0001376 |
monophasic synovial sarcoma | http://www.ebi.ac.uk/efo/EFO_0000595 | http://www.ebi.ac.uk/efo/EFO_0001376 |
angiosarcoma | http://www.ebi.ac.uk/efo/EFO_0003968 | http://www.ebi.ac.uk/efo/EFO_1001968 |
ovarian angiosarcoma | http://purl.obolibrary.org/obo/MONDO_0003035 | http://www.ebi.ac.uk/efo/EFO_0003968 |
Kaposi's sarcoma | http://www.ebi.ac.uk/efo/EFO_0000558 | http://www.ebi.ac.uk/efo/EFO_0003968 |
iatrogenic Kaposi's sarcoma | http://www.ebi.ac.uk/efo/EFO_0002613 | http://www.ebi.ac.uk/efo/EFO_0000558 |
clear cell sarcoma | http://www.ebi.ac.uk/efo/EFO_0008498 | http://www.ebi.ac.uk/efo/EFO_1001968 |
clear cell sarcoma of the kidney | http://www.ebi.ac.uk/efo/EFO_0000350 | http://www.ebi.ac.uk/efo/EFO_0008498 |
extraskeletal myxoid chondrosarcoma | http://purl.obolibrary.org/obo/MONDO_0012825 | http://www.ebi.ac.uk/efo/EFO_1001968 |
intracranial extraskeletal myxoid chondrosarcoma | http://purl.obolibrary.org/obo/MONDO_0004392 | http://purl.obolibrary.org/obo/MONDO_0012825 |
ovarian sarcoma | http://purl.obolibrary.org/obo/MONDO_0002225 | http://www.ebi.ac.uk/efo/EFO_1001968 |
central nervous system sarcoma | http://purl.obolibrary.org/obo/MONDO_0002217 | http://www.ebi.ac.uk/efo/EFO_1001968 |
atypical teratoid rhabdoid tumor | http://www.ebi.ac.uk/efo/EFO_1002008 | http://purl.obolibrary.org/obo/MONDO_0002217 |
extraosseous osteosarcoma | http://purl.obolibrary.org/obo/MONDO_0002621 | http://www.ebi.ac.uk/efo/EFO_1001968 |
kidney sarcoma | http://purl.obolibrary.org/obo/MONDO_0002930 | http://www.ebi.ac.uk/efo/EFO_1001968 |
Rhabdoid Tumor of the Kidney | http://www.ebi.ac.uk/efo/EFO_1000512 | http://purl.obolibrary.org/obo/MONDO_0002930 |
malignant rhabdoid tumour | http://www.ebi.ac.uk/efo/EFO_0005701 | http://www.ebi.ac.uk/efo/EFO_1001968 |
Familial rhabdoid tumor | http://www.orpha.net/ORDO/Orphanet_231108 | http://www.ebi.ac.uk/efo/EFO_0005701 |
extrarenal rhabdoid tumor | http://purl.obolibrary.org/obo/MONDO_0044916 | http://www.ebi.ac.uk/efo/EFO_0005701 |
familial rhabdoid tumor | http://purl.obolibrary.org/obo/MONDO_0016473 | http://www.ebi.ac.uk/efo/EFO_0005701 |
prostate sarcoma | http://purl.obolibrary.org/obo/MONDO_0002854 | http://www.ebi.ac.uk/efo/EFO_1001968 |
malignant peripheral nerve sheath tumor | http://www.ebi.ac.uk/efo/EFO_0000760 | http://www.ebi.ac.uk/efo/EFO_1001968 |
malignant triton tumor | http://purl.obolibrary.org/obo/MONDO_0016757 | http://www.ebi.ac.uk/efo/EFO_0000760 |
Epithelioid Malignant Peripheral Nerve Sheath Tumor | http://www.ebi.ac.uk/efo/EFO_1000245 | http://www.ebi.ac.uk/efo/EFO_0000760 |
Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation | http://www.ebi.ac.uk/efo/EFO_1000361 | http://www.ebi.ac.uk/efo/EFO_0000760 |
vulva sarcoma | http://www.ebi.ac.uk/efo/EFO_0002920 | http://www.ebi.ac.uk/efo/EFO_1001968 |
alveolar soft part sarcoma | http://www.ebi.ac.uk/efo/EFO_0007143 | http://www.ebi.ac.uk/efo/EFO_1001968 |
desmoplastic small round cell tumor | http://www.ebi.ac.uk/efo/EFO_1000895 | http://www.ebi.ac.uk/efo/EFO_1001968 |
digestive system cancer | http://purl.obolibrary.org/obo/MONDO_0002516 | http://www.ebi.ac.uk/efo/EFO_0000311 |
gastric cancer | http://purl.obolibrary.org/obo/MONDO_0001056 | http://purl.obolibrary.org/obo/MONDO_0002516 |
cardia cancer | http://purl.obolibrary.org/obo/MONDO_0001063 | http://purl.obolibrary.org/obo/MONDO_0001056 |
malignant gastric germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0003112 | http://purl.obolibrary.org/obo/MONDO_0001056 |
Gastric Choriocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000269 | http://purl.obolibrary.org/obo/MONDO_0003112 |
gallbladder cancer | http://purl.obolibrary.org/obo/MONDO_0005411 | http://purl.obolibrary.org/obo/MONDO_0002516 |
gastrointestinal lymphoma | http://purl.obolibrary.org/obo/MONDO_0004699 | http://purl.obolibrary.org/obo/MONDO_0002516 |
small intestine lymphoma | http://purl.obolibrary.org/obo/MONDO_0001852 | http://purl.obolibrary.org/obo/MONDO_0004699 |
colorectal lymphoma | http://purl.obolibrary.org/obo/MONDO_0024656 | http://purl.obolibrary.org/obo/MONDO_0004699 |
colon lymphoma | http://purl.obolibrary.org/obo/MONDO_0002035 | http://purl.obolibrary.org/obo/MONDO_0024656 |
Colon Mucosa-Associated Lymphoid Tissue Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000186 | http://purl.obolibrary.org/obo/MONDO_0002035 |
intestinal cancer | http://www.ebi.ac.uk/efo/EFO_0007330 | http://purl.obolibrary.org/obo/MONDO_0002516 |
small intestine cancer | http://purl.obolibrary.org/obo/MONDO_0000956 | http://www.ebi.ac.uk/efo/EFO_0007330 |
duodenum cancer | http://purl.obolibrary.org/obo/MONDO_0000920 | http://purl.obolibrary.org/obo/MONDO_0000956 |
jejunal cancer | http://www.ebi.ac.uk/efo/EFO_1000998 | http://purl.obolibrary.org/obo/MONDO_0000956 |
colorectal cancer | http://www.ebi.ac.uk/efo/EFO_0005842 | http://www.ebi.ac.uk/efo/EFO_0007330 |
familial colorectal cancer | http://purl.obolibrary.org/obo/MONDO_0023113 | http://www.ebi.ac.uk/efo/EFO_0005842 |
hereditary nonpolyposis colon cancer | http://purl.obolibrary.org/obo/MONDO_0018630 | http://purl.obolibrary.org/obo/MONDO_0023113 |
Muir-Torre syndrome | http://purl.obolibrary.org/obo/MONDO_0008018 | http://purl.obolibrary.org/obo/MONDO_0018630 |
colorectal cancer, hereditary nonpolyposis, type 8 | http://purl.obolibrary.org/obo/MONDO_0013196 | http://purl.obolibrary.org/obo/MONDO_0018630 |
Lynch syndrome | http://purl.obolibrary.org/obo/MONDO_0005835 | http://purl.obolibrary.org/obo/MONDO_0018630 |
Non-polyposis Turcot syndrome | http://www.orpha.net/ORDO/Orphanet_99817 | http://purl.obolibrary.org/obo/MONDO_0005835 |
malignant colon neoplasm | http://purl.obolibrary.org/obo/MONDO_0021063 | http://www.ebi.ac.uk/efo/EFO_0005842 |
cecum cancer | http://purl.obolibrary.org/obo/MONDO_0002033 | http://purl.obolibrary.org/obo/MONDO_0021063 |
appendix cancer | http://purl.obolibrary.org/obo/MONDO_0001235 | http://purl.obolibrary.org/obo/MONDO_0002033 |
rectum cancer | http://www.ebi.ac.uk/efo/EFO_1000657 | http://www.ebi.ac.uk/efo/EFO_0005842 |
anus cancer | http://purl.obolibrary.org/obo/MONDO_0001879 | http://www.ebi.ac.uk/efo/EFO_1000657 |
Malignant Pancreatic Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000359 | http://purl.obolibrary.org/obo/MONDO_0002516 |
malignant exocrine pancreas neoplasm | http://purl.obolibrary.org/obo/MONDO_0002116 | http://www.ebi.ac.uk/efo/EFO_1000359 |
blastoma | http://www.ebi.ac.uk/efo/EFO_0005785 | http://www.ebi.ac.uk/efo/EFO_0000311 |
respiratory system cancer | http://purl.obolibrary.org/obo/MONDO_0000376 | http://www.ebi.ac.uk/efo/EFO_0000311 |
tracheal cancer | http://purl.obolibrary.org/obo/MONDO_0001407 | http://purl.obolibrary.org/obo/MONDO_0000376 |
bronchus cancer | http://purl.obolibrary.org/obo/MONDO_0001672 | http://purl.obolibrary.org/obo/MONDO_0000376 |
Malignant Laryngeal Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000354 | http://purl.obolibrary.org/obo/MONDO_0000376 |
supraglottis cancer | http://purl.obolibrary.org/obo/MONDO_0001724 | http://www.ebi.ac.uk/efo/EFO_1000354 |
glottis cancer | http://purl.obolibrary.org/obo/MONDO_0002351 | http://www.ebi.ac.uk/efo/EFO_1000354 |
sarcoma | http://www.ebi.ac.uk/efo/EFO_0000691 | http://www.ebi.ac.uk/efo/EFO_0000311 |
small cell sarcoma | http://www.ebi.ac.uk/efo/EFO_1001184 | http://www.ebi.ac.uk/efo/EFO_0000691 |
vascular sarcoma | http://www.ebi.ac.uk/efo/EFO_0003967 | http://www.ebi.ac.uk/efo/EFO_0000691 |
ectomesenchymoma | http://purl.obolibrary.org/obo/MONDO_0002855 | http://www.ebi.ac.uk/efo/EFO_0000691 |
osteosarcoma | http://www.ebi.ac.uk/efo/EFO_0000637 | http://www.ebi.ac.uk/efo/EFO_0000691 |
Low Grade Central Osteosarcoma | http://www.ebi.ac.uk/efo/EFO_1000327 | http://www.ebi.ac.uk/efo/EFO_0000637 |
well-differentiated sarcoma | http://www.ebi.ac.uk/efo/EFO_0000737 | http://www.ebi.ac.uk/efo/EFO_0000691 |
uterine sarcoma | http://www.ebi.ac.uk/efo/EFO_0002914 | http://www.ebi.ac.uk/efo/EFO_0000691 |
uterine corpus undifferentiated sarcoma | http://www.ebi.ac.uk/efo/EFO_0010833 | http://www.ebi.ac.uk/efo/EFO_0002914 |
Ewing sarcoma | http://www.ebi.ac.uk/efo/EFO_0000174 | http://www.ebi.ac.uk/efo/EFO_0000691 |
Synovial Chondromatosis | http://www.ebi.ac.uk/efo/EFO_1000557 | http://www.ebi.ac.uk/efo/EFO_0000691 |
endometrial stromal sarcoma | http://www.ebi.ac.uk/efo/EFO_1000919 | http://www.ebi.ac.uk/efo/EFO_0000691 |
female reproductive endometrioid cancer | http://www.ebi.ac.uk/efo/EFO_0009118 | http://www.ebi.ac.uk/efo/EFO_0000311 |
reproductive system cancer | http://purl.obolibrary.org/obo/MONDO_0002149 | http://www.ebi.ac.uk/efo/EFO_0000311 |
Genital neoplasm, female | http://www.ebi.ac.uk/efo/EFO_1001331 | http://purl.obolibrary.org/obo/MONDO_0002149 |
ovarian cancer | http://purl.obolibrary.org/obo/MONDO_0008170 | http://www.ebi.ac.uk/efo/EFO_1001331 |
familial ovarian cancer | http://purl.obolibrary.org/obo/MONDO_0016248 | http://purl.obolibrary.org/obo/MONDO_0008170 |
hereditary site-specific ovarian cancer syndrome | http://purl.obolibrary.org/obo/MONDO_0016249 | http://purl.obolibrary.org/obo/MONDO_0016248 |
malignant non-epithelial tumor of ovary | http://purl.obolibrary.org/obo/MONDO_0018365 | http://purl.obolibrary.org/obo/MONDO_0008170 |
malignant germ cell tumor of ovary | http://purl.obolibrary.org/obo/MONDO_0018171 | http://purl.obolibrary.org/obo/MONDO_0018365 |
ovarian primitive germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0003408 | http://purl.obolibrary.org/obo/MONDO_0018171 |
ovarian mixed germ cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0003710 | http://purl.obolibrary.org/obo/MONDO_0003408 |
malignant non-dysgerminomatous germ cell tumor of ovary | http://purl.obolibrary.org/obo/MONDO_0016096 | http://purl.obolibrary.org/obo/MONDO_0003408 |
Ovarian Yolk Sac Tumor | http://www.ebi.ac.uk/efo/EFO_1000437 | http://purl.obolibrary.org/obo/MONDO_0016096 |
Ovarian Embryonal Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000415 | http://purl.obolibrary.org/obo/MONDO_0016096 |
Ovarian Dysgerminoma | http://www.ebi.ac.uk/efo/EFO_1000414 | http://purl.obolibrary.org/obo/MONDO_0003408 |
Ovarian Choriocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000413 | http://purl.obolibrary.org/obo/MONDO_0018171 |
vaginal cancer | http://purl.obolibrary.org/obo/MONDO_0001402 | http://www.ebi.ac.uk/efo/EFO_1001331 |
malignant vaginal mixed epithelial and mesenchymal neoplasm | http://purl.obolibrary.org/obo/MONDO_0037746 | http://purl.obolibrary.org/obo/MONDO_0001402 |
Vaginal Carcinosarcoma | http://www.ebi.ac.uk/efo/EFO_1000618 | http://purl.obolibrary.org/obo/MONDO_0037746 |
vulva cancer | http://purl.obolibrary.org/obo/MONDO_0001528 | http://www.ebi.ac.uk/efo/EFO_1001331 |
gestational choriocarcinoma | http://purl.obolibrary.org/obo/MONDO_0020550 | http://www.ebi.ac.uk/efo/EFO_1001331 |
Placental Choriocarcinoma | http://www.ebi.ac.uk/efo/EFO_1000479 | http://purl.obolibrary.org/obo/MONDO_0020550 |
Familial ovarian cancer | http://www.orpha.net/ORDO/Orphanet_213517 | http://www.ebi.ac.uk/efo/EFO_1001331 |
Hereditary site-specific ovarian cancer syndrome | http://www.orpha.net/ORDO/Orphanet_213524 | http://www.orpha.net/ORDO/Orphanet_213517 |
uterine cancer | http://purl.obolibrary.org/obo/MONDO_0002715 | http://www.ebi.ac.uk/efo/EFO_1001331 |
endometrial cancer | http://purl.obolibrary.org/obo/MONDO_0011962 | http://purl.obolibrary.org/obo/MONDO_0002715 |
uterine corpus cancer | http://www.ebi.ac.uk/efo/EFO_0007532 | http://purl.obolibrary.org/obo/MONDO_0002715 |
uterine body mixed cancer | http://purl.obolibrary.org/obo/MONDO_0002879 | http://www.ebi.ac.uk/efo/EFO_0007532 |
uterine corpus adenosarcoma | http://purl.obolibrary.org/obo/MONDO_0002878 | http://purl.obolibrary.org/obo/MONDO_0002879 |
carcinosarcoma of the corpus uteri | http://purl.obolibrary.org/obo/MONDO_0016259 | http://purl.obolibrary.org/obo/MONDO_0002879 |
cervical cancer | http://purl.obolibrary.org/obo/MONDO_0002974 | http://purl.obolibrary.org/obo/MONDO_0002715 |
malignant neoplasm of endocervix | http://purl.obolibrary.org/obo/MONDO_0021309 | http://purl.obolibrary.org/obo/MONDO_0002974 |
malignant mixed epithelial and mesenchymal tumor of cervix uteri | http://purl.obolibrary.org/obo/MONDO_0016277 | http://purl.obolibrary.org/obo/MONDO_0002974 |
cervical carcinosarcoma | http://purl.obolibrary.org/obo/MONDO_0002877 | http://purl.obolibrary.org/obo/MONDO_0016277 |
cervical adenosarcoma | http://purl.obolibrary.org/obo/MONDO_0002876 | http://purl.obolibrary.org/obo/MONDO_0016277 |
Cervical Wilms Tumor | http://www.ebi.ac.uk/efo/EFO_1000173 | http://purl.obolibrary.org/obo/MONDO_0002974 |
placenta cancer | http://purl.obolibrary.org/obo/MONDO_0002178 | http://purl.obolibrary.org/obo/MONDO_0002715 |
Uterine Carcinosarcoma | http://www.ebi.ac.uk/efo/EFO_1000613 | http://purl.obolibrary.org/obo/MONDO_0002715 |
fallopian tube cancer | http://purl.obolibrary.org/obo/MONDO_0002158 | http://www.ebi.ac.uk/efo/EFO_1001331 |
adenosarcoma | http://www.ebi.ac.uk/efo/EFO_0007134 | http://www.ebi.ac.uk/efo/EFO_1001331 |
male reproductive organ cancer | http://www.ebi.ac.uk/efo/EFO_0007355 | http://purl.obolibrary.org/obo/MONDO_0002149 |
prostate cancer | http://purl.obolibrary.org/obo/MONDO_0008315 | http://www.ebi.ac.uk/efo/EFO_0007355 |
penile cancer | http://purl.obolibrary.org/obo/MONDO_0001325 | http://www.ebi.ac.uk/efo/EFO_0007355 |
cardiovascular cancer | http://purl.obolibrary.org/obo/MONDO_0002100 | http://www.ebi.ac.uk/efo/EFO_0000311 |
vascular cancer | http://purl.obolibrary.org/obo/MONDO_0002095 | http://purl.obolibrary.org/obo/MONDO_0002100 |
epithelioid hemangioendothelioma | http://purl.obolibrary.org/obo/MONDO_0015523 | http://purl.obolibrary.org/obo/MONDO_0002095 |
choroid plexus cancer | http://www.ebi.ac.uk/efo/EFO_0007206 | http://purl.obolibrary.org/obo/MONDO_0002095 |
nervous system cancer | http://www.ebi.ac.uk/efo/EFO_0007392 | http://www.ebi.ac.uk/efo/EFO_0000311 |
peripheral nervous system cancer | http://purl.obolibrary.org/obo/MONDO_0021089 | http://www.ebi.ac.uk/efo/EFO_0007392 |
granular cell cancer | http://purl.obolibrary.org/obo/MONDO_0003252 | http://purl.obolibrary.org/obo/MONDO_0021089 |
ganglioneuroma | http://www.ebi.ac.uk/efo/EFO_0000500 | http://purl.obolibrary.org/obo/MONDO_0021089 |
peripheral primitive neuroectodermal tumor | http://purl.obolibrary.org/obo/MONDO_0018271 | http://purl.obolibrary.org/obo/MONDO_0021089 |
sensory system cancer | http://purl.obolibrary.org/obo/MONDO_0000649 | http://www.ebi.ac.uk/efo/EFO_0007392 |
auditory system cancer | http://purl.obolibrary.org/obo/MONDO_0004532 | http://purl.obolibrary.org/obo/MONDO_0000649 |
central nervous system cancer | http://www.ebi.ac.uk/efo/EFO_0000326 | http://www.ebi.ac.uk/efo/EFO_0007392 |
malignant tumor of meninges | http://purl.obolibrary.org/obo/MONDO_0021322 | http://www.ebi.ac.uk/efo/EFO_0000326 |
malignant leptomeningeal tumor | http://purl.obolibrary.org/obo/MONDO_0003762 | http://purl.obolibrary.org/obo/MONDO_0021322 |
meninges hemangiopericytoma | http://purl.obolibrary.org/obo/MONDO_0003223 | http://purl.obolibrary.org/obo/MONDO_0021322 |
spinal cord cancer | http://purl.obolibrary.org/obo/MONDO_0003544 | http://www.ebi.ac.uk/efo/EFO_0000326 |
Spinal Cord Primitive Neuroectodermal Tumor | http://www.ebi.ac.uk/efo/EFO_1000545 | http://purl.obolibrary.org/obo/MONDO_0003544 |
brain cancer | http://purl.obolibrary.org/obo/MONDO_0001657 | http://www.ebi.ac.uk/efo/EFO_0000326 |
intracranial primitive neuroectodermal tumor | http://purl.obolibrary.org/obo/MONDO_0003142 | http://purl.obolibrary.org/obo/MONDO_0001657 |
pediatric infratentorial ependymoblastoma | http://purl.obolibrary.org/obo/MONDO_0004263 | http://purl.obolibrary.org/obo/MONDO_0003142 |
infratentorial cancer | http://purl.obolibrary.org/obo/MONDO_0003107 | http://purl.obolibrary.org/obo/MONDO_0001657 |
brainstem cancer | http://purl.obolibrary.org/obo/MONDO_0002912 | http://purl.obolibrary.org/obo/MONDO_0003107 |
childhood brain stem neoplasm | http://purl.obolibrary.org/obo/MONDO_0002914 | http://purl.obolibrary.org/obo/MONDO_0002912 |
supratentorial cancer | http://purl.obolibrary.org/obo/MONDO_0002071 | http://purl.obolibrary.org/obo/MONDO_0001657 |
diencephalic cancer | http://purl.obolibrary.org/obo/MONDO_0002786 | http://purl.obolibrary.org/obo/MONDO_0002071 |
thalamic cancer | http://purl.obolibrary.org/obo/MONDO_0003766 | http://purl.obolibrary.org/obo/MONDO_0002786 |
cerebral ventricle cancer | http://www.ebi.ac.uk/efo/EFO_0007201 | http://purl.obolibrary.org/obo/MONDO_0001657 |
central neurocytoma | http://www.ebi.ac.uk/efo/EFO_1000856 | http://www.ebi.ac.uk/efo/EFO_0007201 |
central nervous system melanocytic neoplasm | http://purl.obolibrary.org/obo/MONDO_0003222 | http://www.ebi.ac.uk/efo/EFO_0000326 |
central nervous system primitive neuroectodermal neoplasm | http://purl.obolibrary.org/obo/MONDO_0000640 | http://www.ebi.ac.uk/efo/EFO_0000326 |
childhood central nervous system primitive neuroectodermal neoplasm | http://purl.obolibrary.org/obo/MONDO_0002798 | http://purl.obolibrary.org/obo/MONDO_0000640 |
ependymoblastoma | http://purl.obolibrary.org/obo/MONDO_0016715 | http://purl.obolibrary.org/obo/MONDO_0000640 |
embryonal carcinoma of the central nervous system | http://purl.obolibrary.org/obo/MONDO_0018843 | http://www.ebi.ac.uk/efo/EFO_0000326 |
mixed germ cell tumor of central nervous system | http://purl.obolibrary.org/obo/MONDO_0016742 | http://www.ebi.ac.uk/efo/EFO_0000326 |
central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor | http://purl.obolibrary.org/obo/MONDO_0016713 | http://www.ebi.ac.uk/efo/EFO_0000326 |
retroperitoneal cancer | http://www.ebi.ac.uk/efo/EFO_0007466 | http://www.ebi.ac.uk/efo/EFO_0000311 |
Malignant Urinary System Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000363 | http://www.ebi.ac.uk/efo/EFO_0000311 |
urinary bladder cancer | http://purl.obolibrary.org/obo/MONDO_0001187 | http://www.ebi.ac.uk/efo/EFO_1000363 |
urachus cancer | http://purl.obolibrary.org/obo/MONDO_0001378 | http://purl.obolibrary.org/obo/MONDO_0001187 |
kidney cancer | http://purl.obolibrary.org/obo/MONDO_0002367 | http://www.ebi.ac.uk/efo/EFO_1000363 |
malignant renal pelvis neoplasm | http://purl.obolibrary.org/obo/MONDO_0044919 | http://purl.obolibrary.org/obo/MONDO_0002367 |
childhood malignant kidney neoplasm | http://purl.obolibrary.org/obo/MONDO_0036511 | http://purl.obolibrary.org/obo/MONDO_0002367 |
congenital mesoblastic nephroma | http://purl.obolibrary.org/obo/MONDO_0017043 | http://purl.obolibrary.org/obo/MONDO_0036511 |
kidney Wilms tumor | http://purl.obolibrary.org/obo/MONDO_0019004 | http://purl.obolibrary.org/obo/MONDO_0002367 |
hereditary Wilms tumor | http://purl.obolibrary.org/obo/MONDO_0003321 | http://purl.obolibrary.org/obo/MONDO_0019004 |
Wilms tumor 1 | http://purl.obolibrary.org/obo/MONDO_0008679 | http://purl.obolibrary.org/obo/MONDO_0003321 |
Stromal Predominant Kidney Wilms Tumor | http://www.ebi.ac.uk/efo/EFO_1000551 | http://purl.obolibrary.org/obo/MONDO_0003321 |
mesoblastic nephroma | http://www.ebi.ac.uk/efo/EFO_0007365 | http://purl.obolibrary.org/obo/MONDO_0002367 |
urethra cancer | http://purl.obolibrary.org/obo/MONDO_0004192 | http://www.ebi.ac.uk/efo/EFO_1000363 |
ureter cancer | http://purl.obolibrary.org/obo/MONDO_0008627 | http://www.ebi.ac.uk/efo/EFO_1000363 |
Malignant Germ Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000352 | http://www.ebi.ac.uk/efo/EFO_0000311 |
mixed germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0015864 | http://www.ebi.ac.uk/efo/EFO_1000352 |
mixed extragonadal germ cell cancer | http://purl.obolibrary.org/obo/MONDO_0000524 | http://purl.obolibrary.org/obo/MONDO_0015864 |
testicular mixed germ cell tumor | http://www.ebi.ac.uk/efo/EFO_0010831 | http://purl.obolibrary.org/obo/MONDO_0015864 |
dysgerminoma | http://purl.obolibrary.org/obo/MONDO_0003002 | http://www.ebi.ac.uk/efo/EFO_1000352 |
seminoma | http://purl.obolibrary.org/obo/MONDO_0003001 | http://www.ebi.ac.uk/efo/EFO_1000352 |
extragonadal seminoma | http://purl.obolibrary.org/obo/MONDO_0003668 | http://purl.obolibrary.org/obo/MONDO_0003001 |
extragonadal germ cell cancer | http://purl.obolibrary.org/obo/MONDO_0003113 | http://www.ebi.ac.uk/efo/EFO_1000352 |
extragonadal nonseminomatous germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0003578 | http://purl.obolibrary.org/obo/MONDO_0003113 |
embryonal carcinoma | http://www.ebi.ac.uk/efo/EFO_0004986 | http://purl.obolibrary.org/obo/MONDO_0003578 |
endodermal sinus tumor | http://www.ebi.ac.uk/efo/EFO_0007252 | http://purl.obolibrary.org/obo/MONDO_0003578 |
malignant childhood germ cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0004479 | http://www.ebi.ac.uk/efo/EFO_1000352 |
Malignant Mixed Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000356 | http://www.ebi.ac.uk/efo/EFO_0000311 |
malignant phyllodes tumor | http://purl.obolibrary.org/obo/MONDO_0037003 | http://www.ebi.ac.uk/efo/EFO_1000356 |
Nephroblastoma | http://www.orpha.net/ORDO/Orphanet_654 | http://www.ebi.ac.uk/efo/EFO_1000356 |
carcinosarcoma | http://purl.obolibrary.org/obo/MONDO_0002928 | http://www.ebi.ac.uk/efo/EFO_1000356 |
Wilms tumor | http://purl.obolibrary.org/obo/MONDO_0006058 | http://www.ebi.ac.uk/efo/EFO_1000356 |
childhood cancer | http://www.ebi.ac.uk/efo/EFO_1000654 | http://www.ebi.ac.uk/efo/EFO_0000311 |
pediatric lymphoma | http://purl.obolibrary.org/obo/MONDO_0003659 | http://www.ebi.ac.uk/efo/EFO_1000654 |
childhood T lymphoblastic lymphoma | http://www.ebi.ac.uk/efo/EFO_1001948 | http://purl.obolibrary.org/obo/MONDO_0003659 |
childhood precursor T-lymphoblastic lymphoma/leukemia | http://purl.obolibrary.org/obo/MONDO_0004403 | http://www.ebi.ac.uk/efo/EFO_1000654 |
germ cell tumor | http://www.ebi.ac.uk/efo/EFO_0000514 | http://www.ebi.ac.uk/efo/EFO_0000616 |
childhood germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0003751 | http://www.ebi.ac.uk/efo/EFO_0000514 |
germinomatous germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0020580 | http://www.ebi.ac.uk/efo/EFO_0000514 |
choriocarcinoma | http://www.ebi.ac.uk/efo/EFO_0002893 | http://www.ebi.ac.uk/efo/EFO_0000514 |
placental site trophoblastic tumor | http://www.ebi.ac.uk/efo/EFO_1001111 | http://www.ebi.ac.uk/efo/EFO_0002893 |
non-gestational choriocarcinoma | http://www.ebi.ac.uk/efo/EFO_1001064 | http://www.ebi.ac.uk/efo/EFO_0002893 |
nongerminomatous germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0021656 | http://www.ebi.ac.uk/efo/EFO_0000514 |
extragonadal non-dysgerminomatous germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0020539 | http://purl.obolibrary.org/obo/MONDO_0021656 |
central nervous system nongerminomatous germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0020574 | http://purl.obolibrary.org/obo/MONDO_0020539 |
central nervous system teratoma | http://purl.obolibrary.org/obo/MONDO_0002718 | http://purl.obolibrary.org/obo/MONDO_0020574 |
central nervous system immature teratoma | http://purl.obolibrary.org/obo/MONDO_0003735 | http://purl.obolibrary.org/obo/MONDO_0002718 |
extragonadal teratoma | http://purl.obolibrary.org/obo/MONDO_0019500 | http://purl.obolibrary.org/obo/MONDO_0020539 |
teratoma | http://purl.obolibrary.org/obo/MONDO_0002601 | http://purl.obolibrary.org/obo/MONDO_0021656 |
Gonadal Teratoma | http://www.ebi.ac.uk/efo/EFO_1000282 | http://purl.obolibrary.org/obo/MONDO_0002601 |
ovarian teratoma | http://www.ebi.ac.uk/efo/EFO_0006463 | http://www.ebi.ac.uk/efo/EFO_1000282 |
ovarian monodermal teratoma | http://purl.obolibrary.org/obo/MONDO_0003331 | http://www.ebi.ac.uk/efo/EFO_0006463 |
ovarian monodermal and highly specialized teratoma | http://purl.obolibrary.org/obo/MONDO_0002372 | http://purl.obolibrary.org/obo/MONDO_0003331 |
struma ovarii | http://www.ebi.ac.uk/efo/EFO_1001192 | http://purl.obolibrary.org/obo/MONDO_0002372 |
Teratoma with Malignant Transformation | http://www.ebi.ac.uk/efo/EFO_1000563 | http://purl.obolibrary.org/obo/MONDO_0002601 |
Ovarian Germ Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000419 | http://www.ebi.ac.uk/efo/EFO_0000514 |
extragonadal germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0018201 | http://www.ebi.ac.uk/efo/EFO_0000514 |
central nervous system germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0003000 | http://purl.obolibrary.org/obo/MONDO_0018201 |
primary germ cell tumor of central nervous system | http://purl.obolibrary.org/obo/MONDO_0016738 | http://purl.obolibrary.org/obo/MONDO_0018201 |
gonadal germ cell tumor | http://purl.obolibrary.org/obo/MONDO_0018202 | http://www.ebi.ac.uk/efo/EFO_0000514 |
spindle cell tumor | http://www.ebi.ac.uk/efo/EFO_0000705 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Spindle Cell Melanoma | http://www.ebi.ac.uk/efo/EFO_1000546 | http://www.ebi.ac.uk/efo/EFO_0000705 |
skeletal muscle neoplasm | http://purl.obolibrary.org/obo/MONDO_0002848 | http://www.ebi.ac.uk/efo/EFO_0000616 |
muscular tumor | http://purl.obolibrary.org/obo/MONDO_0016123 | http://purl.obolibrary.org/obo/MONDO_0002848 |
embryonal neoplasm | http://www.ebi.ac.uk/efo/EFO_0005784 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Ewing sarcoma/peripheral primitive neuroectodermal tumor | http://purl.obolibrary.org/obo/MONDO_0021038 | http://www.ebi.ac.uk/efo/EFO_0005784 |
Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor | http://www.ebi.ac.uk/efo/EFO_1000250 | http://purl.obolibrary.org/obo/MONDO_0021038 |
intraocular medulloepithelioma | http://purl.obolibrary.org/obo/MONDO_0017050 | http://www.ebi.ac.uk/efo/EFO_0005784 |
Chordoma | http://www.orpha.net/ORDO/Orphanet_178 | http://www.ebi.ac.uk/efo/EFO_0005784 |
embryonal tumor of neuroepithelial tissue | http://purl.obolibrary.org/obo/MONDO_0016708 | http://www.ebi.ac.uk/efo/EFO_0005784 |
primitive neuroectodermal tumor | http://www.ebi.ac.uk/efo/EFO_0005235 | http://purl.obolibrary.org/obo/MONDO_0016708 |
Neuroblastic Tumor | http://www.ebi.ac.uk/efo/EFO_1000393 | http://www.ebi.ac.uk/efo/EFO_0005235 |
neuroblastoma | http://www.ebi.ac.uk/efo/EFO_0000621 | http://www.ebi.ac.uk/efo/EFO_1000393 |
dopaminergic neuroblastoma | http://www.ebi.ac.uk/efo/EFO_0006391 | http://www.ebi.ac.uk/efo/EFO_0000621 |
retroperitoneal neuroblastoma | http://purl.obolibrary.org/obo/MONDO_0000551 | http://www.ebi.ac.uk/efo/EFO_0000621 |
extracranial neuroblastoma | http://purl.obolibrary.org/obo/MONDO_0002749 | http://www.ebi.ac.uk/efo/EFO_0000621 |
ganglioneuroblastoma | http://www.ebi.ac.uk/efo/EFO_0000502 | http://www.ebi.ac.uk/efo/EFO_1000393 |
medulloblastoma | http://www.ebi.ac.uk/efo/EFO_0002939 | http://purl.obolibrary.org/obo/MONDO_0016708 |
large cell medulloblastoma | http://www.ebi.ac.uk/efo/EFO_0008508 | http://www.ebi.ac.uk/efo/EFO_0002939 |
desmoplastic medulloblastoma | http://www.ebi.ac.uk/efo/EFO_0005699 | http://www.ebi.ac.uk/efo/EFO_0002939 |
classic medulloblastoma | http://purl.obolibrary.org/obo/MONDO_0016712 | http://www.ebi.ac.uk/efo/EFO_0002939 |
medulloblastoma with extensive nodularity | http://purl.obolibrary.org/obo/MONDO_0016710 | http://www.ebi.ac.uk/efo/EFO_0002939 |
Medullomyoblastoma with Myogenic Differentiation | http://www.ebi.ac.uk/efo/EFO_1000368 | http://www.ebi.ac.uk/efo/EFO_0002939 |
trophoblastic neoplasm | http://purl.obolibrary.org/obo/MONDO_0002872 | http://www.ebi.ac.uk/efo/EFO_0000616 |
gestational trophoblastic neoplasm | http://purl.obolibrary.org/obo/MONDO_0018944 | http://purl.obolibrary.org/obo/MONDO_0002872 |
Hydatidiform Mole | http://www.ebi.ac.uk/efo/EFO_1000298 | http://purl.obolibrary.org/obo/MONDO_0018944 |
complete hydatidiform mole | http://purl.obolibrary.org/obo/MONDO_0016785 | http://www.ebi.ac.uk/efo/EFO_1000298 |
hydatidiform mole, recurrent, 1 | http://purl.obolibrary.org/obo/MONDO_0009273 | http://purl.obolibrary.org/obo/MONDO_0016785 |
gestational trophoblastic disease | http://purl.obolibrary.org/obo/MONDO_0016784 | http://purl.obolibrary.org/obo/MONDO_0002872 |
mesenchymal cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0002616 | http://www.ebi.ac.uk/efo/EFO_0000616 |
inherited soft tissue tumor | http://purl.obolibrary.org/obo/MONDO_0017127 | http://purl.obolibrary.org/obo/MONDO_0002616 |
Hereditary leiomyomatosis and renal cell cancer | http://www.orpha.net/ORDO/Orphanet_523 | http://purl.obolibrary.org/obo/MONDO_0017127 |
Mazabraud syndrome | http://purl.obolibrary.org/obo/MONDO_0018933 | http://purl.obolibrary.org/obo/MONDO_0017127 |
chondrogenic neoplasm | http://purl.obolibrary.org/obo/MONDO_0024469 | http://purl.obolibrary.org/obo/MONDO_0002616 |
benign chondrogenic neoplasm | http://purl.obolibrary.org/obo/MONDO_0024470 | http://purl.obolibrary.org/obo/MONDO_0024469 |
pericytic neoplasm | http://purl.obolibrary.org/obo/MONDO_0002604 | http://purl.obolibrary.org/obo/MONDO_0002616 |
myopericytoma | http://purl.obolibrary.org/obo/MONDO_0017349 | http://purl.obolibrary.org/obo/MONDO_0002604 |
benign perivascular tumor | http://purl.obolibrary.org/obo/MONDO_0003342 | http://purl.obolibrary.org/obo/MONDO_0002604 |
Angioleiomyoma | http://www.ebi.ac.uk/efo/EFO_1000084 | http://purl.obolibrary.org/obo/MONDO_0003342 |
Myofibroma | http://www.ebi.ac.uk/efo/EFO_1000389 | http://purl.obolibrary.org/obo/MONDO_0003342 |
Hemangiopericytic Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000289 | http://purl.obolibrary.org/obo/MONDO_0002604 |
hemangiopericytoma | http://purl.obolibrary.org/obo/MONDO_0005094 | http://www.ebi.ac.uk/efo/EFO_1000289 |
glomus tumor | http://purl.obolibrary.org/obo/MONDO_0018327 | http://purl.obolibrary.org/obo/MONDO_0002604 |
myomatous neoplasm | http://purl.obolibrary.org/obo/MONDO_0021545 | http://purl.obolibrary.org/obo/MONDO_0002616 |
smooth muscle tumor | http://www.ebi.ac.uk/efo/EFO_1001185 | http://purl.obolibrary.org/obo/MONDO_0021545 |
Benign Smooth Muscle Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000121 | http://www.ebi.ac.uk/efo/EFO_1001185 |
leiomyoma | http://purl.obolibrary.org/obo/MONDO_0001572 | http://www.ebi.ac.uk/efo/EFO_1000121 |
leiomyomatosis | http://purl.obolibrary.org/obo/MONDO_0003295 | http://purl.obolibrary.org/obo/MONDO_0001572 |
renal leiomyoma | http://www.ebi.ac.uk/efo/EFO_1000050 | http://purl.obolibrary.org/obo/MONDO_0001572 |
benign muscle neoplasm | http://purl.obolibrary.org/obo/MONDO_0003061 | http://purl.obolibrary.org/obo/MONDO_0021545 |
rhabdomyoma | http://purl.obolibrary.org/obo/MONDO_0036688 | http://purl.obolibrary.org/obo/MONDO_0003061 |
head and neck neoplasia | http://www.ebi.ac.uk/efo/EFO_0005950 | http://www.ebi.ac.uk/efo/EFO_0000616 |
nasopharyngeal neoplasm | http://www.ebi.ac.uk/efo/EFO_0004252 | http://www.ebi.ac.uk/efo/EFO_0005950 |
lethal midline granuloma | http://www.ebi.ac.uk/efo/EFO_1001013 | http://www.ebi.ac.uk/efo/EFO_0005950 |
odontogenic neoplasm | http://purl.obolibrary.org/obo/MONDO_0021192 | http://www.ebi.ac.uk/efo/EFO_0005950 |
gingival neoplasm | http://purl.obolibrary.org/obo/MONDO_0021086 | http://purl.obolibrary.org/obo/MONDO_0021192 |
Keratocystic odontogenic tumor | http://purl.obolibrary.org/obo/MONDO_0018648 | http://purl.obolibrary.org/obo/MONDO_0021192 |
tonsil neoplasm | http://purl.obolibrary.org/obo/MONDO_0021250 | http://www.ebi.ac.uk/efo/EFO_0005950 |
lip neoplasm | http://purl.obolibrary.org/obo/MONDO_0021249 | http://www.ebi.ac.uk/efo/EFO_0005950 |
benign neoplasm of lip | http://purl.obolibrary.org/obo/MONDO_0021496 | http://purl.obolibrary.org/obo/MONDO_0021249 |
ear neoplasm | http://purl.obolibrary.org/obo/MONDO_0021233 | http://www.ebi.ac.uk/efo/EFO_0005950 |
inner ear neoplasm | http://purl.obolibrary.org/obo/MONDO_0024320 | http://purl.obolibrary.org/obo/MONDO_0021233 |
neoplasm of middle ear | http://purl.obolibrary.org/obo/MONDO_0021366 | http://purl.obolibrary.org/obo/MONDO_0021233 |
benign neoplasm of ear | http://purl.obolibrary.org/obo/MONDO_0021474 | http://purl.obolibrary.org/obo/MONDO_0021233 |
laryngeal neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0015070 | http://www.ebi.ac.uk/efo/EFO_0005950 |
malignant epithelial tumor of salivary glands | http://purl.obolibrary.org/obo/MONDO_0017167 | http://www.ebi.ac.uk/efo/EFO_0005950 |
nasal cavity and paranasal sinus neoplasm | http://purl.obolibrary.org/obo/MONDO_0056820 | http://www.ebi.ac.uk/efo/EFO_0005950 |
tongue neoplasm | http://www.ebi.ac.uk/efo/EFO_0003871 | http://www.ebi.ac.uk/efo/EFO_0005950 |
tongue squamous cell carcinoma | http://www.ebi.ac.uk/efo/EFO_1000055 | http://www.ebi.ac.uk/efo/EFO_0003871 |
benign neoplasm of tongue | http://purl.obolibrary.org/obo/MONDO_0021476 | http://www.ebi.ac.uk/efo/EFO_0003871 |
mouth neoplasm | http://www.ebi.ac.uk/efo/EFO_0003868 | http://www.ebi.ac.uk/efo/EFO_0005950 |
Leukoplakia, Hairy | http://www.ebi.ac.uk/efo/EFO_1001360 | http://www.ebi.ac.uk/efo/EFO_0003868 |
palatal neoplasm | http://www.ebi.ac.uk/efo/EFO_0003849 | http://www.ebi.ac.uk/efo/EFO_0003868 |
benign neoplasm of oral cavity | http://purl.obolibrary.org/obo/MONDO_0021445 | http://www.ebi.ac.uk/efo/EFO_0003868 |
Adenomatoid Odontogenic Tumor | http://www.ebi.ac.uk/efo/EFO_1000072 | http://purl.obolibrary.org/obo/MONDO_0021445 |
eye neoplasm | http://www.ebi.ac.uk/efo/EFO_0003824 | http://www.ebi.ac.uk/efo/EFO_0005950 |
lacrimal gland neoplasm | http://purl.obolibrary.org/obo/MONDO_0021222 | http://www.ebi.ac.uk/efo/EFO_0003824 |
uvea neoplasm | http://purl.obolibrary.org/obo/MONDO_0021225 | http://www.ebi.ac.uk/efo/EFO_0003824 |
iris neoplasm | http://purl.obolibrary.org/obo/MONDO_0021224 | http://purl.obolibrary.org/obo/MONDO_0021225 |
ciliary body neoplasm | http://purl.obolibrary.org/obo/MONDO_0021229 | http://purl.obolibrary.org/obo/MONDO_0021224 |
choroid neoplasm | http://purl.obolibrary.org/obo/MONDO_0021258 | http://purl.obolibrary.org/obo/MONDO_0021225 |
benign neoplasm of choroid | http://purl.obolibrary.org/obo/MONDO_0021487 | http://purl.obolibrary.org/obo/MONDO_0021258 |
cornea neoplasm | http://purl.obolibrary.org/obo/MONDO_0021238 | http://www.ebi.ac.uk/efo/EFO_0003824 |
benign neoplasm of cornea | http://purl.obolibrary.org/obo/MONDO_0021452 | http://purl.obolibrary.org/obo/MONDO_0021238 |
familial pterygium of the conjunctiva | http://purl.obolibrary.org/obo/MONDO_0008337 | http://purl.obolibrary.org/obo/MONDO_0021452 |
pterygium | http://www.ebi.ac.uk/efo/EFO_0000678 | http://purl.obolibrary.org/obo/MONDO_0021452 |
conjunctival tumor | http://purl.obolibrary.org/obo/MONDO_0020204 | http://www.ebi.ac.uk/efo/EFO_0003824 |
bulbar conjunctival dermoid or conjunctival dermolipoma | http://purl.obolibrary.org/obo/MONDO_0020205 | http://purl.obolibrary.org/obo/MONDO_0020204 |
Benign Conjunctival Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000110 | http://purl.obolibrary.org/obo/MONDO_0020204 |
Gardner syndrome | http://purl.obolibrary.org/obo/MONDO_0019336 | http://www.ebi.ac.uk/efo/EFO_0003824 |
benign neoplasm of eye | http://purl.obolibrary.org/obo/MONDO_0021454 | http://www.ebi.ac.uk/efo/EFO_0003824 |
ring dermoid of cornea | http://purl.obolibrary.org/obo/MONDO_0008387 | http://www.ebi.ac.uk/efo/EFO_0003824 |
Retinal Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000509 | http://www.ebi.ac.uk/efo/EFO_0003824 |
retinal cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0024341 | http://www.ebi.ac.uk/efo/EFO_1000509 |
Melanocytoma of the Eyeball | http://www.ebi.ac.uk/efo/EFO_1000369 | http://www.ebi.ac.uk/efo/EFO_0003824 |
iris cancer | http://www.ebi.ac.uk/efo/EFO_1000996 | http://www.ebi.ac.uk/efo/EFO_0003824 |
cranial nerve neoplasm | http://purl.obolibrary.org/obo/MONDO_0002633 | http://www.ebi.ac.uk/efo/EFO_0005950 |
optic nerve neoplasm | http://www.ebi.ac.uk/efo/EFO_1001073 | http://purl.obolibrary.org/obo/MONDO_0002633 |
olfactory nerve neoplasm | http://purl.obolibrary.org/obo/MONDO_0002722 | http://purl.obolibrary.org/obo/MONDO_0002633 |
nasal cavity neoplasm | http://purl.obolibrary.org/obo/MONDO_0004756 | http://www.ebi.ac.uk/efo/EFO_0005950 |
Head and Neck Paraganglioma | http://www.ebi.ac.uk/efo/EFO_1000288 | http://www.ebi.ac.uk/efo/EFO_0005950 |
carotid body paraganglioma | http://purl.obolibrary.org/obo/MONDO_0021053 | http://www.ebi.ac.uk/efo/EFO_1000288 |
Benign Carotid Body Paraganglioma | http://www.ebi.ac.uk/efo/EFO_1000108 | http://purl.obolibrary.org/obo/MONDO_0021053 |
neoplasm of floor of mouth | http://purl.obolibrary.org/obo/MONDO_0021383 | http://www.ebi.ac.uk/efo/EFO_0005950 |
neoplasm of hypopharynx | http://purl.obolibrary.org/obo/MONDO_0021358 | http://www.ebi.ac.uk/efo/EFO_0005950 |
neoplasm of neck | http://purl.obolibrary.org/obo/MONDO_0021351 | http://www.ebi.ac.uk/efo/EFO_0005950 |
glomus jugulare neoplasm | http://purl.obolibrary.org/obo/MONDO_0021257 | http://purl.obolibrary.org/obo/MONDO_0021351 |
neoplasm of oropharynx | http://purl.obolibrary.org/obo/MONDO_0021364 | http://www.ebi.ac.uk/efo/EFO_0005950 |
Mixed Tumor of the Salivary Gland | http://www.ebi.ac.uk/efo/EFO_1000384 | http://www.ebi.ac.uk/efo/EFO_0005950 |
benign neoplasm of salivary gland | http://purl.obolibrary.org/obo/MONDO_0021460 | http://www.ebi.ac.uk/efo/EFO_1000384 |
neoplasm of minor salivary gland | http://purl.obolibrary.org/obo/MONDO_0021370 | http://www.ebi.ac.uk/efo/EFO_1000384 |
neoplasm of major salivary gland | http://purl.obolibrary.org/obo/MONDO_0021368 | http://www.ebi.ac.uk/efo/EFO_1000384 |
Sublingual Gland Neoplasms | http://www.ebi.ac.uk/efo/EFO_1001430 | http://purl.obolibrary.org/obo/MONDO_0021368 |
submandibular gland neoplasm | http://www.ebi.ac.uk/efo/EFO_1001853 | http://purl.obolibrary.org/obo/MONDO_0021368 |
parotid neoplasm | http://www.ebi.ac.uk/efo/EFO_0003873 | http://purl.obolibrary.org/obo/MONDO_0021368 |
hematopoietic and lymphoid system neoplasm | http://purl.obolibrary.org/obo/MONDO_0002334 | http://www.ebi.ac.uk/efo/EFO_0000616 |
bone marrow neoplasm | http://purl.obolibrary.org/obo/MONDO_0005374 | http://purl.obolibrary.org/obo/MONDO_0002334 |
leukemia | http://www.ebi.ac.uk/efo/EFO_0000565 | http://purl.obolibrary.org/obo/MONDO_0005374 |
lymphoid leukemia | http://www.ebi.ac.uk/efo/EFO_0004289 | http://www.ebi.ac.uk/efo/EFO_0000565 |
T-cell large granular lymphocyte leukemia | http://purl.obolibrary.org/obo/MONDO_0019469 | http://www.ebi.ac.uk/efo/EFO_0004289 |
T-cell leukemia | http://www.ebi.ac.uk/efo/EFO_0005592 | http://www.ebi.ac.uk/efo/EFO_0004289 |
acute T cell leukemia | http://purl.obolibrary.org/obo/MONDO_0003540 | http://www.ebi.ac.uk/efo/EFO_0005592 |
adult T acute lymphoblastic leukemia | http://www.ebi.ac.uk/efo/EFO_1001936 | http://purl.obolibrary.org/obo/MONDO_0003540 |
T-Cell Prolymphocytic Leukemia | http://www.ebi.ac.uk/efo/EFO_1000560 | http://purl.obolibrary.org/obo/MONDO_0003540 |
acute lymphoblastic leukemia | http://www.ebi.ac.uk/efo/EFO_0000220 | http://www.ebi.ac.uk/efo/EFO_0004289 |
plasma cell leukemia | http://www.ebi.ac.uk/efo/EFO_0006475 | http://www.ebi.ac.uk/efo/EFO_0000220 |
adult acute lymphoblastic leukemia | http://purl.obolibrary.org/obo/MONDO_0003541 | http://www.ebi.ac.uk/efo/EFO_0000220 |
prolymphocytic leukemia | http://purl.obolibrary.org/obo/MONDO_0001023 | http://www.ebi.ac.uk/efo/EFO_0000220 |
B-Cell Prolymphocytic Leukemia | http://www.ebi.ac.uk/efo/EFO_1000102 | http://purl.obolibrary.org/obo/MONDO_0001023 |
precursor T-cell lymphoblastic leukemia-lymphoma | http://www.ebi.ac.uk/efo/EFO_1001830 | http://www.ebi.ac.uk/efo/EFO_0000220 |
precursor B-cell acute lymphoblastic leukemia | http://purl.obolibrary.org/obo/MONDO_0020511 | http://www.ebi.ac.uk/efo/EFO_0000220 |
T-cell acute lymphoblastic leukemia | http://www.ebi.ac.uk/efo/EFO_0000209 | http://www.ebi.ac.uk/efo/EFO_0000220 |
aggressive NK-cell leukemia | http://purl.obolibrary.org/obo/MONDO_0019470 | http://www.ebi.ac.uk/efo/EFO_0000209 |
chronic lymphocytic leukemia | http://www.ebi.ac.uk/efo/EFO_0000095 | http://www.ebi.ac.uk/efo/EFO_0000220 |
hairy cell leukemia | http://www.ebi.ac.uk/efo/EFO_1000956 | http://www.ebi.ac.uk/efo/EFO_0000095 |
B-cell acute lymphoblastic leukemia | http://www.ebi.ac.uk/efo/EFO_0000094 | http://www.ebi.ac.uk/efo/EFO_0000220 |
B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) | http://purl.obolibrary.org/obo/MONDO_0600030 | http://www.ebi.ac.uk/efo/EFO_0000094 |
chronic leukemia | http://purl.obolibrary.org/obo/MONDO_0001014 | http://www.ebi.ac.uk/efo/EFO_0000565 |
Acute Leukemia | http://www.ebi.ac.uk/efo/EFO_1000068 | http://www.ebi.ac.uk/efo/EFO_0000565 |
monocytic leukemia | http://purl.obolibrary.org/obo/MONDO_0004600 | http://www.ebi.ac.uk/efo/EFO_0000565 |
mast-cell leukemia | http://www.ebi.ac.uk/efo/EFO_0007359 | http://www.ebi.ac.uk/efo/EFO_0000565 |
tumor of hematopoietic and lymphoid tissues | http://purl.obolibrary.org/obo/MONDO_0019044 | http://purl.obolibrary.org/obo/MONDO_0002334 |
myeloid hemopathy | http://purl.obolibrary.org/obo/MONDO_0015756 | http://purl.obolibrary.org/obo/MONDO_0019044 |
myelodysplastic/myeloproliferative disease | http://purl.obolibrary.org/obo/MONDO_0020077 | http://purl.obolibrary.org/obo/MONDO_0015756 |
lymphoid hemopathy | http://purl.obolibrary.org/obo/MONDO_0015757 | http://purl.obolibrary.org/obo/MONDO_0019044 |
Castleman disease | http://purl.obolibrary.org/obo/MONDO_0015564 | http://purl.obolibrary.org/obo/MONDO_0015757 |
immunodeficiency-associated lymphoproliferative disease | http://purl.obolibrary.org/obo/MONDO_0020083 | http://purl.obolibrary.org/obo/MONDO_0015757 |
post-transplant lymphoproliferative disease | http://purl.obolibrary.org/obo/MONDO_0019088 | http://purl.obolibrary.org/obo/MONDO_0020083 |
lymphoma | http://www.ebi.ac.uk/efo/EFO_0000574 | http://purl.obolibrary.org/obo/MONDO_0015757 |
composite lymphoma | http://www.ebi.ac.uk/efo/EFO_0007215 | http://www.ebi.ac.uk/efo/EFO_0000574 |
Hodgkins lymphoma | http://www.ebi.ac.uk/efo/EFO_0000183 | http://www.ebi.ac.uk/efo/EFO_0000574 |
classic Hodgkin lymphoma | http://purl.obolibrary.org/obo/MONDO_0009348 | http://www.ebi.ac.uk/efo/EFO_0000183 |
nodular sclerosis Hodgkin lymphoma | http://www.ebi.ac.uk/efo/EFO_0004708 | http://purl.obolibrary.org/obo/MONDO_0009348 |
Hodgkins lymphoma, mixed cellularity | http://www.ebi.ac.uk/efo/EFO_1002031 | http://purl.obolibrary.org/obo/MONDO_0009348 |
Splenic Hodgkin Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000548 | http://www.ebi.ac.uk/efo/EFO_0000183 |
unspecified peripheral T-cell lymphoma | http://www.ebi.ac.uk/efo/EFO_0000211 | http://www.ebi.ac.uk/efo/EFO_0000574 |
B-cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0004095 | http://www.ebi.ac.uk/efo/EFO_0000574 |
B-cell non-Hodgkins lymphoma | http://www.ebi.ac.uk/efo/EFO_1001938 | http://purl.obolibrary.org/obo/MONDO_0004095 |
aggressive B-cell non-Hodgkin lymphoma | http://purl.obolibrary.org/obo/MONDO_0017595 | http://www.ebi.ac.uk/efo/EFO_1001938 |
Mantle cell lymphoma | http://www.ebi.ac.uk/efo/EFO_1001469 | http://purl.obolibrary.org/obo/MONDO_0017595 |
Splenic Mantle Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000549 | http://www.ebi.ac.uk/efo/EFO_1001469 |
diffuse large B-cell lymphoma | http://www.ebi.ac.uk/efo/EFO_0000403 | http://purl.obolibrary.org/obo/MONDO_0017595 |
Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly | http://purl.obolibrary.org/obo/MONDO_0017346 | http://www.ebi.ac.uk/efo/EFO_0000403 |
high grade B-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0044889 | http://www.ebi.ac.uk/efo/EFO_0000403 |
Gastric Diffuse Large B-Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000270 | http://www.ebi.ac.uk/efo/EFO_0000403 |
Primary Effusion Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000491 | http://www.ebi.ac.uk/efo/EFO_0000403 |
Splenic Diffuse Large B-Cell Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000547 | http://www.ebi.ac.uk/efo/EFO_0000403 |
Burkitts lymphoma | http://www.ebi.ac.uk/efo/EFO_0000309 | http://purl.obolibrary.org/obo/MONDO_0017595 |
Epstein-Barr virus-related Burkitts lymphoma | http://www.ebi.ac.uk/efo/EFO_1001954 | http://www.ebi.ac.uk/efo/EFO_0000309 |
indolent B-cell non-Hodgkin lymphoma | http://purl.obolibrary.org/obo/MONDO_0017594 | http://www.ebi.ac.uk/efo/EFO_1001938 |
follicular lymphoma | http://purl.obolibrary.org/obo/MONDO_0018906 | http://purl.obolibrary.org/obo/MONDO_0017594 |
Waldenstrom macroglobulinemia | http://www.ebi.ac.uk/efo/EFO_0009441 | http://purl.obolibrary.org/obo/MONDO_0017594 |
lymphoplasmacytic lymphoma | http://purl.obolibrary.org/obo/MONDO_0000432 | http://purl.obolibrary.org/obo/MONDO_0004095 |
neoplasm of mature B-cells | http://www.ebi.ac.uk/efo/EFO_0000096 | http://purl.obolibrary.org/obo/MONDO_0004095 |
plasma cell neoplasm | http://www.ebi.ac.uk/efo/EFO_0000200 | http://www.ebi.ac.uk/efo/EFO_0000096 |
plasmacytoma | http://www.ebi.ac.uk/efo/EFO_0006738 | http://www.ebi.ac.uk/efo/EFO_0000200 |
leukemoid reaction | http://www.ebi.ac.uk/efo/EFO_1001014 | http://www.ebi.ac.uk/efo/EFO_0000200 |
Heavy Chain Disease | http://www.ebi.ac.uk/efo/EFO_1001341 | http://www.ebi.ac.uk/efo/EFO_0000200 |
non-Hodgkins lymphoma | http://www.ebi.ac.uk/efo/EFO_0005952 | http://www.ebi.ac.uk/efo/EFO_0000574 |
Lymphoma, AIDS-Related | http://www.ebi.ac.uk/efo/EFO_1001365 | http://www.ebi.ac.uk/efo/EFO_0005952 |
T-cell non-Hodgkin lymphoma | http://purl.obolibrary.org/obo/MONDO_0015760 | http://www.ebi.ac.uk/efo/EFO_0005952 |
T-lymphoblastic lymphoma | http://purl.obolibrary.org/obo/MONDO_0044917 | http://purl.obolibrary.org/obo/MONDO_0015760 |
enteropathy-associated T-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0019473 | http://purl.obolibrary.org/obo/MONDO_0015760 |
hepatosplenic T-cell lymphoma | http://purl.obolibrary.org/obo/MONDO_0019474 | http://purl.obolibrary.org/obo/MONDO_0015760 |
mature T-cell and NK-cell non-Hodgkin lymphoma | http://purl.obolibrary.org/obo/MONDO_0000430 | http://purl.obolibrary.org/obo/MONDO_0015760 |
anaplastic large cell lymphoma | http://www.ebi.ac.uk/efo/EFO_0003032 | http://purl.obolibrary.org/obo/MONDO_0000430 |
Anaplastic Large Cell Lymphoma, ALK-Negative | http://www.ebi.ac.uk/efo/EFO_1000083 | http://www.ebi.ac.uk/efo/EFO_0003032 |
angioimmunoblastic T-cell lymphoma | http://www.ebi.ac.uk/efo/EFO_0000255 | http://purl.obolibrary.org/obo/MONDO_0000430 |
lymphoblastic lymphoma | http://purl.obolibrary.org/obo/MONDO_0000873 | http://www.ebi.ac.uk/efo/EFO_0005952 |
AIDS-Related Primary Central Nervous System Lymphoma | http://www.ebi.ac.uk/efo/EFO_1000077 | http://www.ebi.ac.uk/efo/EFO_0000574 |
primary organ-specific lymphoma | http://purl.obolibrary.org/obo/MONDO_0017207 | http://www.ebi.ac.uk/efo/EFO_0000574 |
adult lymphoma | http://purl.obolibrary.org/obo/MONDO_0003660 | http://www.ebi.ac.uk/efo/EFO_0000574 |
Immunoblastic Lymphadenopathy | http://www.ebi.ac.uk/efo/EFO_1001350 | http://www.ebi.ac.uk/efo/EFO_0000574 |
Histiocytic and Dendritic Cell Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000297 | http://purl.obolibrary.org/obo/MONDO_0015757 |
macrophage or histiocytic tumor | http://purl.obolibrary.org/obo/MONDO_0020081 | http://www.ebi.ac.uk/efo/EFO_1000297 |
histiocytic sarcoma | http://purl.obolibrary.org/obo/MONDO_0019479 | http://purl.obolibrary.org/obo/MONDO_0020081 |
dendritic cell tumor | http://purl.obolibrary.org/obo/MONDO_0020082 | http://www.ebi.ac.uk/efo/EFO_1000297 |
Langerhans Cell Histiocytosis | http://www.ebi.ac.uk/efo/EFO_1000318 | http://purl.obolibrary.org/obo/MONDO_0020082 |
deafness-lymphedema-leukemia syndrome | http://purl.obolibrary.org/obo/MONDO_0013540 | http://purl.obolibrary.org/obo/MONDO_0019044 |
Mastocytosis | http://www.ebi.ac.uk/efo/EFO_0009001 | http://purl.obolibrary.org/obo/MONDO_0019044 |
systemic mastocytosis | http://purl.obolibrary.org/obo/MONDO_0016586 | http://www.ebi.ac.uk/efo/EFO_0009001 |
Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease | http://www.ebi.ac.uk/efo/EFO_1000559 | http://purl.obolibrary.org/obo/MONDO_0016586 |
extracutaneous mastocytoma | http://www.ebi.ac.uk/efo/EFO_1000932 | http://purl.obolibrary.org/obo/MONDO_0016586 |
hematopoietic and lymphoid cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0044881 | http://purl.obolibrary.org/obo/MONDO_0002334 |
myeloid neoplasm | http://www.ebi.ac.uk/efo/EFO_0002427 | http://purl.obolibrary.org/obo/MONDO_0044881 |
Mast Cell Neoplasm | http://www.ebi.ac.uk/efo/EFO_0009000 | http://www.ebi.ac.uk/efo/EFO_0002427 |
mastocytoma | http://purl.obolibrary.org/obo/MONDO_0003079 | http://www.ebi.ac.uk/efo/EFO_0009000 |
skin mastocytoma | http://www.ebi.ac.uk/efo/EFO_1001844 | http://www.ebi.ac.uk/efo/EFO_0009000 |
central nervous system hematopoietic neoplasm | http://purl.obolibrary.org/obo/MONDO_0003641 | http://purl.obolibrary.org/obo/MONDO_0044881 |
lymphoid neoplasm | http://www.ebi.ac.uk/efo/EFO_0001642 | http://purl.obolibrary.org/obo/MONDO_0044881 |
malignant lymphatic vessel tumor | http://www.ebi.ac.uk/efo/EFO_1001032 | http://www.ebi.ac.uk/efo/EFO_0001642 |
neoplasm of immature B and T cells | http://www.ebi.ac.uk/efo/EFO_0002425 | http://www.ebi.ac.uk/efo/EFO_0001642 |
T-cell and NK-cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0024615 | http://www.ebi.ac.uk/efo/EFO_0001642 |
neoplasm of mature T-cells or NK-cells | http://www.ebi.ac.uk/efo/EFO_0002426 | http://purl.obolibrary.org/obo/MONDO_0024615 |
EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood | http://www.ebi.ac.uk/efo/EFO_1000228 | http://www.ebi.ac.uk/efo/EFO_0002426 |
precursor T-lymphoblastic lymphoma/leukemia | http://purl.obolibrary.org/obo/MONDO_0003537 | http://purl.obolibrary.org/obo/MONDO_0024615 |
precursor lymphoblastic lymphoma/leukemia | http://www.ebi.ac.uk/efo/EFO_0009119 | http://www.ebi.ac.uk/efo/EFO_0001642 |
refractory hematologic cancer | http://purl.obolibrary.org/obo/MONDO_0004111 | http://purl.obolibrary.org/obo/MONDO_0044881 |
spleen neoplasm | http://purl.obolibrary.org/obo/MONDO_0036696 | http://purl.obolibrary.org/obo/MONDO_0002334 |
lymph node neoplasm | http://purl.obolibrary.org/obo/MONDO_0024339 | http://purl.obolibrary.org/obo/MONDO_0002334 |
thymus neoplasm | http://www.ebi.ac.uk/efo/EFO_0002626 | http://purl.obolibrary.org/obo/MONDO_0002334 |
thymic neuroendocrine tumor | http://purl.obolibrary.org/obo/MONDO_0019964 | http://www.ebi.ac.uk/efo/EFO_0002626 |
urogenital neoplasm | http://www.ebi.ac.uk/efo/EFO_0003863 | http://www.ebi.ac.uk/efo/EFO_0000616 |
testicular neoplasm | http://www.ebi.ac.uk/efo/EFO_0004281 | http://www.ebi.ac.uk/efo/EFO_0003863 |
Testicular Sertoli Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000572 | http://www.ebi.ac.uk/efo/EFO_0004281 |
Testicular Sclerosing Sertoli Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000571 | http://www.ebi.ac.uk/efo/EFO_0004281 |
Testicular Leydig Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000569 | http://www.ebi.ac.uk/efo/EFO_0004281 |
Testicular Large Cell Calcifying Sertoli Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000568 | http://www.ebi.ac.uk/efo/EFO_0004281 |
Testicular Granulosa Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000567 | http://www.ebi.ac.uk/efo/EFO_0004281 |
reproductive system neoplasm | http://www.ebi.ac.uk/efo/EFO_1000051 | http://www.ebi.ac.uk/efo/EFO_0003863 |
Gestational trophoblastic neoplasm | http://www.orpha.net/ORDO/Orphanet_59305 | http://www.ebi.ac.uk/efo/EFO_1000051 |
female reproductive system neoplasm | http://purl.obolibrary.org/obo/MONDO_0021148 | http://www.ebi.ac.uk/efo/EFO_1000051 |
fallopian tube neoplasm | http://purl.obolibrary.org/obo/MONDO_0021092 | http://purl.obolibrary.org/obo/MONDO_0021148 |
vulvar neoplasm | http://purl.obolibrary.org/obo/MONDO_0021049 | http://purl.obolibrary.org/obo/MONDO_0021148 |
Bartholin gland neoplasm | http://purl.obolibrary.org/obo/MONDO_0021114 | http://purl.obolibrary.org/obo/MONDO_0021049 |
vulvar benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000643 | http://purl.obolibrary.org/obo/MONDO_0021049 |
Vaginal neoplasm | http://www.ebi.ac.uk/efo/EFO_1001447 | http://purl.obolibrary.org/obo/MONDO_0021148 |
benign vaginal neoplasm | http://purl.obolibrary.org/obo/MONDO_0000647 | http://www.ebi.ac.uk/efo/EFO_1001447 |
Vaginal Melanoma | http://www.ebi.ac.uk/efo/EFO_1000619 | http://www.ebi.ac.uk/efo/EFO_1001447 |
benign female reproductive system neoplasm | http://purl.obolibrary.org/obo/MONDO_0000624 | http://purl.obolibrary.org/obo/MONDO_0021148 |
uterine benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000632 | http://purl.obolibrary.org/obo/MONDO_0000624 |
Tuberculosis, Cutaneous | http://www.ebi.ac.uk/efo/EFO_1001443 | http://purl.obolibrary.org/obo/MONDO_0000632 |
benign neoplasm of corpus uteri | http://purl.obolibrary.org/obo/MONDO_0021525 | http://purl.obolibrary.org/obo/MONDO_0000632 |
adenomyoma of uterine corpus | http://purl.obolibrary.org/obo/MONDO_0003237 | http://purl.obolibrary.org/obo/MONDO_0021525 |
uterine corpus atypical polypoid adenomyoma | http://purl.obolibrary.org/obo/MONDO_0004386 | http://purl.obolibrary.org/obo/MONDO_0003237 |
Benign Ovarian Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000116 | http://purl.obolibrary.org/obo/MONDO_0000624 |
benign ovarian sex cord-stromal tumor | http://purl.obolibrary.org/obo/MONDO_0024387 | http://www.ebi.ac.uk/efo/EFO_1000116 |
Ovarian Microcystic Stromal Tumor | http://www.ebi.ac.uk/efo/EFO_1000424 | http://purl.obolibrary.org/obo/MONDO_0024387 |
adenomyoma | http://www.ebi.ac.uk/efo/EFO_0007133 | http://purl.obolibrary.org/obo/MONDO_0000624 |
atypical polypoid adenomyoma | http://purl.obolibrary.org/obo/MONDO_0003236 | http://www.ebi.ac.uk/efo/EFO_0007133 |
ovarian neoplasm | http://www.ebi.ac.uk/efo/EFO_0003893 | http://purl.obolibrary.org/obo/MONDO_0021148 |
ovarian granulosa tumour | http://www.ebi.ac.uk/efo/EFO_0006461 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Adenomyosis | http://www.ebi.ac.uk/efo/EFO_1001757 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Borderline Ovarian Clear Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000136 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Borderline Ovarian Brenner Tumor | http://www.ebi.ac.uk/efo/EFO_1000135 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Borderline Ovarian Mucinous Tumor | http://www.ebi.ac.uk/efo/EFO_1000138 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Borderline Ovarian Endometrioid Tumor | http://www.ebi.ac.uk/efo/EFO_1000137 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Benign Ovarian Surface Epithelial-Stromal Tumor | http://www.ebi.ac.uk/efo/EFO_1000117 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Benign Ovarian Brenner Tumor | http://www.ebi.ac.uk/efo/EFO_1000112 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Benign Ovarian Mixed Epithelial Tumor | http://www.ebi.ac.uk/efo/EFO_1000114 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Benign Ovarian Endometrioid Tumor | http://www.ebi.ac.uk/efo/EFO_1000113 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Benign Ovarian Mucinous Tumor | http://www.ebi.ac.uk/efo/EFO_1000115 | http://www.ebi.ac.uk/efo/EFO_0003893 |
ovarian sex cord-stromal tumor | http://purl.obolibrary.org/obo/MONDO_0021657 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Tumor of the Thecoma/Fibroma Group | http://www.ebi.ac.uk/efo/EFO_1000436 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Malignant Ovarian Mixed Epithelial Tumor | http://www.ebi.ac.uk/efo/EFO_1000358 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Malignant Ovarian Brenner Tumor | http://www.ebi.ac.uk/efo/EFO_1000357 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Sex Cord Tumor with Annular Tubules | http://www.ebi.ac.uk/efo/EFO_1000430 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Steroid Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000433 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Stromal Luteoma | http://www.ebi.ac.uk/efo/EFO_1000434 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Sclerosing Stromal Tumor | http://www.ebi.ac.uk/efo/EFO_1000426 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Mixed Epithelial Tumor | http://www.ebi.ac.uk/efo/EFO_1000425 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Serous Adenocarcinofibroma | http://www.ebi.ac.uk/efo/EFO_1000427 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Sertoli-Leydig Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000429 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Gonadoblastoma | http://www.ebi.ac.uk/efo/EFO_1000420 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Gynandroblastoma | http://www.ebi.ac.uk/efo/EFO_1000422 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Granulosa Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000421 | http://www.ebi.ac.uk/efo/EFO_0003893 |
Ovarian Leydig Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000423 | http://www.ebi.ac.uk/efo/EFO_0003893 |
uterine neoplasm | http://www.ebi.ac.uk/efo/EFO_0003859 | http://purl.obolibrary.org/obo/MONDO_0021148 |
endometrial neoplasm | http://www.ebi.ac.uk/efo/EFO_0004230 | http://www.ebi.ac.uk/efo/EFO_0003859 |
Endometrial Stromal Nodule | http://www.ebi.ac.uk/efo/EFO_1000241 | http://www.ebi.ac.uk/efo/EFO_0004230 |
Endometrial Cyst | http://www.ebi.ac.uk/efo/EFO_1000232 | http://www.ebi.ac.uk/efo/EFO_0004230 |
Endometrial Intraepithelial Neoplasia | http://www.ebi.ac.uk/efo/EFO_1000235 | http://www.ebi.ac.uk/efo/EFO_0004230 |
Endometrial Polyp | http://www.ebi.ac.uk/efo/EFO_1000237 | http://www.ebi.ac.uk/efo/EFO_0004230 |
Simple Endometrial Hyperplasia with Atypia | http://www.ebi.ac.uk/efo/EFO_1000526 | http://www.ebi.ac.uk/efo/EFO_0004230 |
endometrial stromal tumor | http://www.ebi.ac.uk/efo/EFO_1000920 | http://www.ebi.ac.uk/efo/EFO_0004230 |
placenta neoplasm | http://purl.obolibrary.org/obo/MONDO_0021218 | http://www.ebi.ac.uk/efo/EFO_0003859 |
corpus uteri neoplasm | http://purl.obolibrary.org/obo/MONDO_0021254 | http://www.ebi.ac.uk/efo/EFO_0003859 |
uterine corpus mixed epithelial and mesenchymal neoplasm | http://purl.obolibrary.org/obo/MONDO_0016255 | http://purl.obolibrary.org/obo/MONDO_0021254 |
mixed endometrial stromal and smooth muscle tumor | http://purl.obolibrary.org/obo/MONDO_0004526 | http://purl.obolibrary.org/obo/MONDO_0021254 |
endometrium neoplasm | http://purl.obolibrary.org/obo/MONDO_0021251 | http://www.ebi.ac.uk/efo/EFO_0003859 |
uterine cervix neoplasm | http://purl.obolibrary.org/obo/MONDO_0021230 | http://www.ebi.ac.uk/efo/EFO_0003859 |
uterine ligament neoplasm | http://purl.obolibrary.org/obo/MONDO_0021629 | http://purl.obolibrary.org/obo/MONDO_0021230 |
Nabothian Cyst | http://www.ebi.ac.uk/efo/EFO_1000390 | http://purl.obolibrary.org/obo/MONDO_0021230 |
Borderline Fallopian Tube Serous Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000134 | http://www.ebi.ac.uk/efo/EFO_0003859 |
Cervical Glandular Intraepithelial Neoplasia | http://www.ebi.ac.uk/efo/EFO_1000165 | http://www.ebi.ac.uk/efo/EFO_0003859 |
Uterine Corpus Lipoleiomyoma | http://www.ebi.ac.uk/efo/EFO_1000614 | http://www.ebi.ac.uk/efo/EFO_0003859 |
prostate neoplasm | http://purl.obolibrary.org/obo/MONDO_0021259 | http://www.ebi.ac.uk/efo/EFO_1000051 |
prostate neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0002477 | http://purl.obolibrary.org/obo/MONDO_0021259 |
benign neoplasm of prostate | http://purl.obolibrary.org/obo/MONDO_0021510 | http://purl.obolibrary.org/obo/MONDO_0021259 |
male reproductive system neoplasm | http://purl.obolibrary.org/obo/MONDO_0024582 | http://www.ebi.ac.uk/efo/EFO_1000051 |
penile neoplasm | http://www.ebi.ac.uk/efo/EFO_1001094 | http://purl.obolibrary.org/obo/MONDO_0024582 |
neoplasm of testis | http://purl.obolibrary.org/obo/MONDO_0021348 | http://purl.obolibrary.org/obo/MONDO_0024582 |
sex cord-stromal tumor | http://www.ebi.ac.uk/efo/EFO_1000052 | http://www.ebi.ac.uk/efo/EFO_1000051 |
sex cord-stromal benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0024988 | http://www.ebi.ac.uk/efo/EFO_1000052 |
granulosa cell tumor | http://www.ebi.ac.uk/efo/EFO_1000032 | http://www.ebi.ac.uk/efo/EFO_1000052 |
Leydig Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000321 | http://www.ebi.ac.uk/efo/EFO_1000052 |
benign reproductive system neoplasm | http://purl.obolibrary.org/obo/MONDO_0000383 | http://www.ebi.ac.uk/efo/EFO_1000051 |
benign male reproductive system neoplasm | http://purl.obolibrary.org/obo/MONDO_0000625 | http://purl.obolibrary.org/obo/MONDO_0000383 |
gonadal tissue neoplasm | http://www.ebi.ac.uk/efo/EFO_1000953 | http://www.ebi.ac.uk/efo/EFO_1000051 |
respiratory system neoplasm | http://www.ebi.ac.uk/efo/EFO_0003853 | http://www.ebi.ac.uk/efo/EFO_0000616 |
pleural neoplasm | http://purl.obolibrary.org/obo/MONDO_0021065 | http://www.ebi.ac.uk/efo/EFO_0003853 |
Tracheal neoplasm | http://www.ebi.ac.uk/efo/EFO_1001437 | http://www.ebi.ac.uk/efo/EFO_0003853 |
laryngeal neoplasm | http://www.ebi.ac.uk/efo/EFO_0003817 | http://www.ebi.ac.uk/efo/EFO_0003853 |
glottis neoplasm | http://purl.obolibrary.org/obo/MONDO_0002353 | http://www.ebi.ac.uk/efo/EFO_0003817 |
benign laryngeal neoplasm | http://purl.obolibrary.org/obo/MONDO_0002354 | http://www.ebi.ac.uk/efo/EFO_0003817 |
supraglottis neoplasm | http://purl.obolibrary.org/obo/MONDO_0004427 | http://www.ebi.ac.uk/efo/EFO_0003817 |
Dysplasia of Larynx | http://www.ebi.ac.uk/efo/EFO_1000227 | http://www.ebi.ac.uk/efo/EFO_0003817 |
Pleuropulmonary blastoma | http://www.ebi.ac.uk/efo/EFO_0009052 | http://www.ebi.ac.uk/efo/EFO_0003853 |
bronchial neoplasm | http://www.ebi.ac.uk/efo/EFO_1000849 | http://www.ebi.ac.uk/efo/EFO_0003853 |
endocrine neoplasm | http://www.ebi.ac.uk/efo/EFO_0003769 | http://www.ebi.ac.uk/efo/EFO_0000616 |
functioning endocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0021120 | http://www.ebi.ac.uk/efo/EFO_0003769 |
functional pancreatic neuroendocrine tumor | http://purl.obolibrary.org/obo/MONDO_0023206 | http://purl.obolibrary.org/obo/MONDO_0021120 |
pancreatic insulinoma | http://purl.obolibrary.org/obo/MONDO_0024677 | http://purl.obolibrary.org/obo/MONDO_0023206 |
non-functioning endocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0021119 | http://www.ebi.ac.uk/efo/EFO_0003769 |
ACTH Syndrome, Ectopic | http://www.ebi.ac.uk/efo/EFO_1001256 | http://www.ebi.ac.uk/efo/EFO_0003769 |
pineal body neoplasm | http://purl.obolibrary.org/obo/MONDO_0021232 | http://www.ebi.ac.uk/efo/EFO_0003769 |
pineal parenchymal cell neoplasm | http://purl.obolibrary.org/obo/MONDO_0024890 | http://purl.obolibrary.org/obo/MONDO_0021232 |
Pineal Parenchymal Tumor of Intermediate Differentiation | http://www.ebi.ac.uk/efo/EFO_1000474 | http://purl.obolibrary.org/obo/MONDO_0024890 |
Pineocytoma | http://www.ebi.ac.uk/efo/EFO_1000476 | http://purl.obolibrary.org/obo/MONDO_0024890 |
pineal tumor of neuroepithelial tissue | http://purl.obolibrary.org/obo/MONDO_0016721 | http://purl.obolibrary.org/obo/MONDO_0021232 |
liver neoplasm | http://www.ebi.ac.uk/efo/EFO_1001513 | http://www.ebi.ac.uk/efo/EFO_0003769 |
liver dysplastic nodule | http://www.ebi.ac.uk/efo/EFO_0007834 | http://www.ebi.ac.uk/efo/EFO_1001513 |
biliary tract neoplasm | http://www.ebi.ac.uk/efo/EFO_0003891 | http://www.ebi.ac.uk/efo/EFO_1001513 |
bile duct neoplasm | http://purl.obolibrary.org/obo/MONDO_0021662 | http://www.ebi.ac.uk/efo/EFO_0003891 |
extrahepatic bile duct neoplasm | http://purl.obolibrary.org/obo/MONDO_0021385 | http://purl.obolibrary.org/obo/MONDO_0021662 |
gallbladder neuroendocrine tumor, grade 1/2 | http://purl.obolibrary.org/obo/MONDO_0015073 | http://purl.obolibrary.org/obo/MONDO_0021385 |
carcinoma of gallbladder and extrahepatic biliary tract | http://purl.obolibrary.org/obo/MONDO_0018918 | http://purl.obolibrary.org/obo/MONDO_0021385 |
common bile duct neoplasm | http://www.ebi.ac.uk/efo/EFO_1000876 | http://purl.obolibrary.org/obo/MONDO_0021385 |
ampulla of vater neoplasm | http://purl.obolibrary.org/obo/MONDO_0000921 | http://www.ebi.ac.uk/efo/EFO_1000876 |
hepatic angiomyolipoma | http://purl.obolibrary.org/obo/MONDO_0002605 | http://www.ebi.ac.uk/efo/EFO_1001513 |
Hepatic Granuloma | http://www.ebi.ac.uk/efo/EFO_1000291 | http://www.ebi.ac.uk/efo/EFO_1001513 |
Liver Cavernous Hemangioma | http://www.ebi.ac.uk/efo/EFO_1000322 | http://www.ebi.ac.uk/efo/EFO_1001513 |
Liver Inflammatory Myofibroblastic Tumor | http://www.ebi.ac.uk/efo/EFO_1000324 | http://www.ebi.ac.uk/efo/EFO_1001513 |
neuroendocrine neoplasm | http://www.ebi.ac.uk/efo/EFO_1001901 | http://www.ebi.ac.uk/efo/EFO_0003769 |
carcinoid tumor | http://www.ebi.ac.uk/efo/EFO_0004243 | http://www.ebi.ac.uk/efo/EFO_1001901 |
somatostatinoma | http://www.ebi.ac.uk/efo/EFO_1001187 | http://www.ebi.ac.uk/efo/EFO_0004243 |
carcinoid heart disease | http://www.ebi.ac.uk/efo/EFO_1001769 | http://www.ebi.ac.uk/efo/EFO_0004243 |
Atypical Carcinoid Tumor | http://www.ebi.ac.uk/efo/EFO_1000097 | http://www.ebi.ac.uk/efo/EFO_0004243 |
Gastric Neuroendocrine Tumor G1 | http://www.ebi.ac.uk/efo/EFO_1000275 | http://www.ebi.ac.uk/efo/EFO_0004243 |
intestinal neuroendocrine tumor G1 | http://purl.obolibrary.org/obo/MONDO_0021533 | http://www.ebi.ac.uk/efo/EFO_0004243 |
small intestinal neuroendocrine tumor G1 | http://purl.obolibrary.org/obo/MONDO_0000540 | http://purl.obolibrary.org/obo/MONDO_0021533 |
Colorectal Neuroendocrine Tumor G1 | http://www.ebi.ac.uk/efo/EFO_1000195 | http://purl.obolibrary.org/obo/MONDO_0021533 |
inherited neuroendocrine tumor | http://purl.obolibrary.org/obo/MONDO_0025511 | http://www.ebi.ac.uk/efo/EFO_1001901 |
gallbladder neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0024502 | http://purl.obolibrary.org/obo/MONDO_0025511 |
hereditary neuroendocrine tumor of small intestine | http://purl.obolibrary.org/obo/MONDO_0018698 | http://purl.obolibrary.org/obo/MONDO_0025511 |
familial melanoma | http://purl.obolibrary.org/obo/MONDO_0018961 | http://purl.obolibrary.org/obo/MONDO_0025511 |
melanoma, cutaneous malignant, susceptibility to, 2 | http://purl.obolibrary.org/obo/MONDO_0007964 | http://purl.obolibrary.org/obo/MONDO_0018961 |
Familial melanoma | http://www.orpha.net/ORDO/Orphanet_618 | http://purl.obolibrary.org/obo/MONDO_0018961 |
melanoma, cutaneous malignant, susceptibility to, 10 | http://purl.obolibrary.org/obo/MONDO_0014368 | http://purl.obolibrary.org/obo/MONDO_0018961 |
melanoma, cutaneous malignant, susceptibility to, 3 | http://purl.obolibrary.org/obo/MONDO_0012183 | http://purl.obolibrary.org/obo/MONDO_0018961 |
Paraganglioma | http://www.ebi.ac.uk/efo/EFO_1000453 | http://purl.obolibrary.org/obo/MONDO_0025511 |
parasympathetic paraganglioma | http://purl.obolibrary.org/obo/MONDO_0021052 | http://www.ebi.ac.uk/efo/EFO_1000453 |
Vagus Nerve Paraganglioma | http://www.ebi.ac.uk/efo/EFO_1000621 | http://www.ebi.ac.uk/efo/EFO_1000453 |
digestive system neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0024503 | http://www.ebi.ac.uk/efo/EFO_1001901 |
gastric neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0003111 | http://purl.obolibrary.org/obo/MONDO_0024503 |
gastric neuroendocrine tumor, well differentiated, low or intermediate grade | http://purl.obolibrary.org/obo/MONDO_0015062 | http://purl.obolibrary.org/obo/MONDO_0003111 |
intestinal neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0002883 | http://purl.obolibrary.org/obo/MONDO_0024503 |
small intestine neuroendocrine tumor | http://www.ebi.ac.uk/efo/EFO_1001928 | http://purl.obolibrary.org/obo/MONDO_0002883 |
duodenal neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0024500 | http://www.ebi.ac.uk/efo/EFO_1001928 |
duodenal neuroendocrine tumor, well differentiated, low or intermediate grade | http://purl.obolibrary.org/obo/MONDO_0015063 | http://purl.obolibrary.org/obo/MONDO_0024500 |
small intestine neuroendocrine tumor, well differentiated, low or intermediate grade | http://purl.obolibrary.org/obo/MONDO_0002995 | http://www.ebi.ac.uk/efo/EFO_1001928 |
jejunal neuroendocrine tumor, well differentiated, low or intermediate grade | http://purl.obolibrary.org/obo/MONDO_0015064 | http://purl.obolibrary.org/obo/MONDO_0002995 |
ileal neuroendocrine tumor, well differentiated, low or intermediate grade | http://purl.obolibrary.org/obo/MONDO_0015065 | http://purl.obolibrary.org/obo/MONDO_0002995 |
colon neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0002882 | http://purl.obolibrary.org/obo/MONDO_0002883 |
appendix neuroendocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0024501 | http://purl.obolibrary.org/obo/MONDO_0002882 |
digestive system neuroendocrine tumor, grade 1/2 | http://purl.obolibrary.org/obo/MONDO_0000386 | http://purl.obolibrary.org/obo/MONDO_0024503 |
gastrin-producing neuroendocrine tumor | http://purl.obolibrary.org/obo/MONDO_0003523 | http://purl.obolibrary.org/obo/MONDO_0000386 |
pancreatic neuroendocrine tumor | http://www.ebi.ac.uk/efo/EFO_1000045 | http://purl.obolibrary.org/obo/MONDO_0000386 |
insulinoma | http://www.ebi.ac.uk/efo/EFO_0000549 | http://www.ebi.ac.uk/efo/EFO_1000045 |
islet cell tumor | http://www.ebi.ac.uk/efo/EFO_0007331 | http://purl.obolibrary.org/obo/MONDO_0024503 |
melanoma | http://www.ebi.ac.uk/efo/EFO_0000756 | http://www.ebi.ac.uk/efo/EFO_1001901 |
epithelioid and spindle cell nevus | http://www.ebi.ac.uk/efo/EFO_1000925 | http://www.ebi.ac.uk/efo/EFO_0000756 |
Non-Cutaneous Melanoma | http://www.ebi.ac.uk/efo/EFO_1000397 | http://www.ebi.ac.uk/efo/EFO_0000756 |
mucosal melanoma | http://purl.obolibrary.org/obo/MONDO_0000544 | http://www.ebi.ac.uk/efo/EFO_1000397 |
metastatic melanoma | http://www.ebi.ac.uk/efo/EFO_0002617 | http://www.ebi.ac.uk/efo/EFO_0000756 |
epithelioid cell melanoma | http://purl.obolibrary.org/obo/MONDO_0002973 | http://www.ebi.ac.uk/efo/EFO_0000756 |
amelanotic melanoma | http://www.ebi.ac.uk/efo/EFO_1001937 | http://www.ebi.ac.uk/efo/EFO_0000756 |
VIP-Producing Neuroendocrine Tumor | http://www.ebi.ac.uk/efo/EFO_1000622 | http://www.ebi.ac.uk/efo/EFO_1001901 |
benign endocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0000627 | http://www.ebi.ac.uk/efo/EFO_0003769 |
benign neoplasm of parathyroid gland | http://purl.obolibrary.org/obo/MONDO_0021463 | http://purl.obolibrary.org/obo/MONDO_0000627 |
Benign Thyroid Gland Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000122 | http://purl.obolibrary.org/obo/MONDO_0000627 |
benign neoplasm of adrenal gland | http://purl.obolibrary.org/obo/MONDO_0021511 | http://purl.obolibrary.org/obo/MONDO_0000627 |
Adrenal Gland Myelolipoma | http://www.ebi.ac.uk/efo/EFO_1000074 | http://purl.obolibrary.org/obo/MONDO_0021511 |
benign neoplasm of adrenal medulla | http://purl.obolibrary.org/obo/MONDO_0021468 | http://purl.obolibrary.org/obo/MONDO_0021511 |
adrenal gland neoplasm | http://www.ebi.ac.uk/efo/EFO_0003850 | http://www.ebi.ac.uk/efo/EFO_0003769 |
adrenal medulla neoplasm | http://purl.obolibrary.org/obo/MONDO_0021237 | http://www.ebi.ac.uk/efo/EFO_0003850 |
adrenal/paraganglial tumor | http://purl.obolibrary.org/obo/MONDO_0015077 | http://www.ebi.ac.uk/efo/EFO_0003850 |
familial hyperaldosteronism type II | http://purl.obolibrary.org/obo/MONDO_0011576 | http://purl.obolibrary.org/obo/MONDO_0015077 |
pheochromocytoma-paraganglioma | http://www.ebi.ac.uk/efo/EFO_0020005 | http://purl.obolibrary.org/obo/MONDO_0015077 |
Hereditary pheochromocytoma-paraganglioma | http://www.orpha.net/ORDO/Orphanet_29072 | http://www.ebi.ac.uk/efo/EFO_0020005 |
adrenal cortex neoplasm | http://purl.obolibrary.org/obo/MONDO_0036591 | http://www.ebi.ac.uk/efo/EFO_0003850 |
thyroid neoplasm | http://www.ebi.ac.uk/efo/EFO_0003841 | http://www.ebi.ac.uk/efo/EFO_0003769 |
thyroid gland sarcoma | http://www.ebi.ac.uk/efo/EFO_1001971 | http://www.ebi.ac.uk/efo/EFO_0003841 |
Thyroid Gland Hyalinizing Trabecular Tumor | http://www.ebi.ac.uk/efo/EFO_1000588 | http://www.ebi.ac.uk/efo/EFO_0003841 |
Duodenal Gastrin-Producing Neuroendocrine Tumor | http://www.ebi.ac.uk/efo/EFO_1000224 | http://www.ebi.ac.uk/efo/EFO_0003769 |
tumor of parathyroid gland | http://purl.obolibrary.org/obo/MONDO_0021360 | http://www.ebi.ac.uk/efo/EFO_0003769 |
familial primary hyperparathyroidism | http://purl.obolibrary.org/obo/MONDO_0016365 | http://purl.obolibrary.org/obo/MONDO_0021360 |
familial isolated hyperparathyroidism | http://purl.obolibrary.org/obo/MONDO_0015027 | http://purl.obolibrary.org/obo/MONDO_0016365 |
primary parathyroid hyperplasia | http://purl.obolibrary.org/obo/MONDO_0020524 | http://purl.obolibrary.org/obo/MONDO_0016365 |
hyperparathyroidism 2 with jaw tumors | http://purl.obolibrary.org/obo/MONDO_0007768 | http://purl.obolibrary.org/obo/MONDO_0016365 |
neonatal severe primary hyperparathyroidism | http://purl.obolibrary.org/obo/MONDO_0009397 | http://purl.obolibrary.org/obo/MONDO_0016365 |
Pancreatic Gastrinoma | http://www.ebi.ac.uk/efo/EFO_1000440 | http://www.ebi.ac.uk/efo/EFO_0003769 |
Pancreatic Glucagonoma | http://www.ebi.ac.uk/efo/EFO_1000441 | http://www.ebi.ac.uk/efo/EFO_0003769 |
Pancreatic Vipoma | http://www.ebi.ac.uk/efo/EFO_1000445 | http://www.ebi.ac.uk/efo/EFO_0003769 |
Non-Functional Pancreatic Neuroendocrine Tumor | http://www.ebi.ac.uk/efo/EFO_1000398 | http://www.ebi.ac.uk/efo/EFO_0003769 |
Malignant Paraganglioma | http://www.ebi.ac.uk/efo/EFO_1000360 | http://www.ebi.ac.uk/efo/EFO_0003769 |
Liver Neuroendocrine Tumor | http://www.ebi.ac.uk/efo/EFO_1000325 | http://www.ebi.ac.uk/efo/EFO_0003769 |
adrenal rest tumor | http://www.ebi.ac.uk/efo/EFO_1000798 | http://www.ebi.ac.uk/efo/EFO_0003769 |
Thyroid Gland Mixed Medullary and Follicular Cell Carcinoma | http://www.ebi.ac.uk/efo/EFO_1000589 | http://www.ebi.ac.uk/efo/EFO_0003769 |
cardiovascular neoplasm | http://purl.obolibrary.org/obo/MONDO_0024757 | http://www.ebi.ac.uk/efo/EFO_0000616 |
cardiovascular organ benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000629 | http://purl.obolibrary.org/obo/MONDO_0024757 |
benign blood vessel neoplasm | http://purl.obolibrary.org/obo/MONDO_0024286 | http://purl.obolibrary.org/obo/MONDO_0000629 |
vascular neoplasm | http://purl.obolibrary.org/obo/MONDO_0024296 | http://purl.obolibrary.org/obo/MONDO_0024757 |
blood vessel neoplasm | http://purl.obolibrary.org/obo/MONDO_0021080 | http://purl.obolibrary.org/obo/MONDO_0024296 |
hemangioendothelioma | http://purl.obolibrary.org/obo/MONDO_0021121 | http://purl.obolibrary.org/obo/MONDO_0021080 |
kaposiform hemangioendothelioma | http://purl.obolibrary.org/obo/MONDO_0016236 | http://purl.obolibrary.org/obo/MONDO_0021121 |
hereditary neurocutaneous angioma | http://purl.obolibrary.org/obo/MONDO_0007116 | http://purl.obolibrary.org/obo/MONDO_0024296 |
pelvis syndrome | http://purl.obolibrary.org/obo/MONDO_0019388 | http://purl.obolibrary.org/obo/MONDO_0024296 |
lymphatic vessel neoplasm | http://purl.obolibrary.org/obo/MONDO_0036870 | http://purl.obolibrary.org/obo/MONDO_0024296 |
retroperitoneal neoplasm | http://purl.obolibrary.org/obo/MONDO_0024645 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Retroperitoneal Inflammatory Myofibroblastic Tumor | http://www.ebi.ac.uk/efo/EFO_1000510 | http://purl.obolibrary.org/obo/MONDO_0024645 |
pre-malignant neoplasm | http://purl.obolibrary.org/obo/MONDO_0000611 | http://www.ebi.ac.uk/efo/EFO_0000616 |
histiocytoma | http://www.ebi.ac.uk/efo/EFO_0005561 | http://www.ebi.ac.uk/efo/EFO_0000616 |
histiocytic medullary reticulosis | http://www.ebi.ac.uk/efo/EFO_1001499 | http://www.ebi.ac.uk/efo/EFO_0005561 |
benign fibrous histiocytoma | http://purl.obolibrary.org/obo/MONDO_0002989 | http://www.ebi.ac.uk/efo/EFO_0005561 |
Rare genetic tumor | http://www.orpha.net/ORDO/Orphanet_68336 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Genetic soft tissue tumor | http://www.orpha.net/ORDO/Orphanet_271832 | http://www.orpha.net/ORDO/Orphanet_68336 |
Infantile myofibromatosis | http://www.orpha.net/ORDO/Orphanet_2591 | http://www.orpha.net/ORDO/Orphanet_271832 |
Encephalocraniocutaneous lipomatosis | http://www.orpha.net/ORDO/Orphanet_2396 | http://www.orpha.net/ORDO/Orphanet_271832 |
Genetic digestive tract tumor | http://www.orpha.net/ORDO/Orphanet_271835 | http://www.orpha.net/ORDO/Orphanet_68336 |
Gastrointestinal stromal tumor | http://www.orpha.net/ORDO/Orphanet_44890 | http://www.orpha.net/ORDO/Orphanet_271835 |
Familial adenomatous polyposis | http://www.orpha.net/ORDO/Orphanet_733 | http://www.orpha.net/ORDO/Orphanet_271835 |
Familial adenomatous polyposis due to 5q22.2 microdeletion | http://www.orpha.net/ORDO/Orphanet_261584 | http://www.orpha.net/ORDO/Orphanet_733 |
Attenuated familial adenomatous polyposis | http://www.orpha.net/ORDO/Orphanet_220460 | http://www.orpha.net/ORDO/Orphanet_271835 |
Genetic urogenital tumor | http://www.orpha.net/ORDO/Orphanet_271844 | http://www.orpha.net/ORDO/Orphanet_68336 |
Genetic endocrine tumor | http://www.orpha.net/ORDO/Orphanet_271847 | http://www.orpha.net/ORDO/Orphanet_68336 |
Genetic gynecological tumor | http://www.orpha.net/ORDO/Orphanet_183734 | http://www.orpha.net/ORDO/Orphanet_68336 |
Genetic bone tumor | http://www.orpha.net/ORDO/Orphanet_183527 | http://www.orpha.net/ORDO/Orphanet_68336 |
Enchondromatosis | http://www.orpha.net/ORDO/Orphanet_296 | http://www.orpha.net/ORDO/Orphanet_183527 |
Multiple osteochondromas | http://www.orpha.net/ORDO/Orphanet_321 | http://www.orpha.net/ORDO/Orphanet_183527 |
Diaphyseal medullary stenosis - bone malignancy | http://www.orpha.net/ORDO/Orphanet_85182 | http://www.orpha.net/ORDO/Orphanet_183527 |
Genetic renal tumor | http://www.orpha.net/ORDO/Orphanet_183595 | http://www.orpha.net/ORDO/Orphanet_68336 |
Tuberous sclerosis | http://www.orpha.net/ORDO/Orphanet_805 | http://www.orpha.net/ORDO/Orphanet_183595 |
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome | http://www.orpha.net/ORDO/Orphanet_404476 | http://www.orpha.net/ORDO/Orphanet_183595 |
Genetic eye tumor | http://www.orpha.net/ORDO/Orphanet_183619 | http://www.orpha.net/ORDO/Orphanet_68336 |
Genetic skin tumor | http://www.orpha.net/ORDO/Orphanet_183487 | http://www.orpha.net/ORDO/Orphanet_68336 |
Generalized basaloid follicular hamartoma syndrome | http://www.orpha.net/ORDO/Orphanet_168632 | http://www.orpha.net/ORDO/Orphanet_183487 |
Familial atypical multiple mole melanoma syndrome | http://www.orpha.net/ORDO/Orphanet_404560 | http://www.orpha.net/ORDO/Orphanet_183487 |
Familial multiple fibrofolliculoma | http://www.orpha.net/ORDO/Orphanet_338 | http://www.orpha.net/ORDO/Orphanet_183487 |
Birt-Hogg-Dubé syndrome | http://www.orpha.net/ORDO/Orphanet_122 | http://www.orpha.net/ORDO/Orphanet_183487 |
Oley syndrome | http://www.orpha.net/ORDO/Orphanet_79458 | http://www.orpha.net/ORDO/Orphanet_183487 |
Genetic tumor of hematopoietic and lymphoid tissues | http://www.orpha.net/ORDO/Orphanet_322126 | http://www.orpha.net/ORDO/Orphanet_68336 |
dysplasia | http://www.ebi.ac.uk/efo/EFO_0008501 | http://www.ebi.ac.uk/efo/EFO_0000616 |
digestive system neoplasm | http://www.ebi.ac.uk/efo/EFO_0008549 | http://www.ebi.ac.uk/efo/EFO_0000616 |
intestinal neoplasm | http://purl.obolibrary.org/obo/MONDO_0021118 | http://www.ebi.ac.uk/efo/EFO_0008549 |
colorectal neoplasm | http://www.ebi.ac.uk/efo/EFO_0004142 | http://purl.obolibrary.org/obo/MONDO_0021118 |
colonic neoplasm | http://www.ebi.ac.uk/efo/EFO_0004288 | http://www.ebi.ac.uk/efo/EFO_0004142 |
sigmoid neoplasm | http://www.ebi.ac.uk/efo/EFO_1001181 | http://www.ebi.ac.uk/efo/EFO_0004288 |
rectosigmoid junction neoplasm | http://purl.obolibrary.org/obo/MONDO_0002423 | http://www.ebi.ac.uk/efo/EFO_1001181 |
benign colon neoplasm | http://purl.obolibrary.org/obo/MONDO_0002278 | http://www.ebi.ac.uk/efo/EFO_0004288 |
Colon Inflammatory Polyp | http://www.ebi.ac.uk/efo/EFO_1000184 | http://www.ebi.ac.uk/efo/EFO_0004288 |
cecal neoplasm | http://www.ebi.ac.uk/efo/EFO_0009255 | http://www.ebi.ac.uk/efo/EFO_0004288 |
appendiceal neoplasm | http://www.ebi.ac.uk/efo/EFO_0003880 | http://www.ebi.ac.uk/efo/EFO_0009255 |
pseudomyxoma peritonei | http://www.ebi.ac.uk/efo/EFO_0007456 | http://www.ebi.ac.uk/efo/EFO_0003880 |
cecal benign neoplasm | http://www.ebi.ac.uk/efo/EFO_0007197 | http://www.ebi.ac.uk/efo/EFO_0009255 |
rectal neoplasm | http://purl.obolibrary.org/obo/MONDO_0002165 | http://www.ebi.ac.uk/efo/EFO_0004142 |
anal neoplasm | http://www.ebi.ac.uk/efo/EFO_0003835 | http://purl.obolibrary.org/obo/MONDO_0002165 |
benign neoplasm of anus | http://purl.obolibrary.org/obo/MONDO_0021469 | http://www.ebi.ac.uk/efo/EFO_0003835 |
anal gland neoplasm | http://www.ebi.ac.uk/efo/EFO_1000804 | http://www.ebi.ac.uk/efo/EFO_0003835 |
benign neoplasm of rectum | http://purl.obolibrary.org/obo/MONDO_0021462 | http://purl.obolibrary.org/obo/MONDO_0002165 |
hereditary nonpolyposis colorectal carcinoma | http://www.ebi.ac.uk/efo/EFO_0009911 | http://www.ebi.ac.uk/efo/EFO_0004142 |
Colorectal Gastrointestinal Stromal Tumor | http://www.ebi.ac.uk/efo/EFO_1000192 | http://www.ebi.ac.uk/efo/EFO_0004142 |
classic or attenuated familial adenomatous polyposis | http://purl.obolibrary.org/obo/MONDO_0021057 | http://purl.obolibrary.org/obo/MONDO_0021118 |
classic familial adenomatous polyposis | http://purl.obolibrary.org/obo/MONDO_0021055 | http://purl.obolibrary.org/obo/MONDO_0021057 |
familial adenomatous polyposis 1 | http://purl.obolibrary.org/obo/MONDO_0021056 | http://purl.obolibrary.org/obo/MONDO_0021055 |
APC-related attenuated familial adenomatous polyposis | http://purl.obolibrary.org/obo/MONDO_0016613 | http://purl.obolibrary.org/obo/MONDO_0021056 |
Turcot syndrome with polyposis | http://purl.obolibrary.org/obo/MONDO_0020497 | http://purl.obolibrary.org/obo/MONDO_0021055 |
familial adenomatous polyposis due to 5q22.2 microdeletion | http://purl.obolibrary.org/obo/MONDO_0016860 | http://purl.obolibrary.org/obo/MONDO_0021055 |
MUTYH-related attenuated familial adenomatous polyposis | http://purl.obolibrary.org/obo/MONDO_0012041 | http://purl.obolibrary.org/obo/MONDO_0021055 |
attenuated familial adenomatous polyposis | http://purl.obolibrary.org/obo/MONDO_0016362 | http://purl.obolibrary.org/obo/MONDO_0021057 |
Polymerase proofreading-related adenomatous polyposis | http://purl.obolibrary.org/obo/MONDO_0018653 | http://purl.obolibrary.org/obo/MONDO_0016362 |
MSH3-related attenuated familial adenomatous polyposis | http://purl.obolibrary.org/obo/MONDO_0018812 | http://purl.obolibrary.org/obo/MONDO_0016362 |
AXIN2-related attenuated familial adenomatous polyposis | http://purl.obolibrary.org/obo/MONDO_0018426 | http://purl.obolibrary.org/obo/MONDO_0016362 |
Peutz-Jeghers syndrome | http://purl.obolibrary.org/obo/MONDO_0008280 | http://purl.obolibrary.org/obo/MONDO_0021118 |
intestinal benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0003062 | http://purl.obolibrary.org/obo/MONDO_0021118 |
benign neoplasm of large intestine | http://purl.obolibrary.org/obo/MONDO_0021444 | http://purl.obolibrary.org/obo/MONDO_0003062 |
benign neoplasm of small intestine | http://purl.obolibrary.org/obo/MONDO_0021501 | http://purl.obolibrary.org/obo/MONDO_0003062 |
duodenal benign neoplasm | http://www.ebi.ac.uk/efo/EFO_1000907 | http://purl.obolibrary.org/obo/MONDO_0021501 |
small intestine neoplasm | http://purl.obolibrary.org/obo/MONDO_0004251 | http://purl.obolibrary.org/obo/MONDO_0021118 |
jejunal neoplasm | http://purl.obolibrary.org/obo/MONDO_0002564 | http://purl.obolibrary.org/obo/MONDO_0004251 |
tumor of duodenum | http://purl.obolibrary.org/obo/MONDO_0021375 | http://purl.obolibrary.org/obo/MONDO_0004251 |
ileal neoplasm | http://www.ebi.ac.uk/efo/EFO_1000981 | http://purl.obolibrary.org/obo/MONDO_0004251 |
mesenchymal tumor of small intestine | http://purl.obolibrary.org/obo/MONDO_0018506 | http://purl.obolibrary.org/obo/MONDO_0004251 |
gastrointestinal stromal tumor | http://purl.obolibrary.org/obo/MONDO_0011719 | http://purl.obolibrary.org/obo/MONDO_0018506 |
pharynx neoplasm | http://purl.obolibrary.org/obo/MONDO_0021246 | http://www.ebi.ac.uk/efo/EFO_0008549 |
Hepatobiliary Neoplasm | http://www.ebi.ac.uk/efo/EFO_0008550 | http://www.ebi.ac.uk/efo/EFO_0008549 |
gallbladder neoplasm | http://www.ebi.ac.uk/efo/EFO_0004606 | http://www.ebi.ac.uk/efo/EFO_0008550 |
Gallbladder Biliary Intraepithelial Neoplasia | http://www.ebi.ac.uk/efo/EFO_1000265 | http://www.ebi.ac.uk/efo/EFO_0004606 |
liver and intrahepatic bile duct neoplasm | http://purl.obolibrary.org/obo/MONDO_0024477 | http://www.ebi.ac.uk/efo/EFO_0008550 |
inherited digestive tract tumor | http://purl.obolibrary.org/obo/MONDO_0017128 | http://www.ebi.ac.uk/efo/EFO_0008549 |
stomach neoplasm | http://www.ebi.ac.uk/efo/EFO_0003897 | http://www.ebi.ac.uk/efo/EFO_0008549 |
Gastric Metaplasia | http://www.ebi.ac.uk/efo/EFO_1000273 | http://www.ebi.ac.uk/efo/EFO_0003897 |
benign neoplasm of stomach | http://purl.obolibrary.org/obo/MONDO_0021449 | http://www.ebi.ac.uk/efo/EFO_0003897 |
Dysplasia in Ulcerative Colitis | http://www.ebi.ac.uk/efo/EFO_1000226 | http://www.ebi.ac.uk/efo/EFO_0003897 |
pancreatic neoplasm | http://www.ebi.ac.uk/efo/EFO_0003860 | http://www.ebi.ac.uk/efo/EFO_0008549 |
pancreatic exocrine neoplasm | http://purl.obolibrary.org/obo/MONDO_0021076 | http://www.ebi.ac.uk/efo/EFO_0003860 |
pancreatic somatostatinoma | http://www.ebi.ac.uk/efo/EFO_1001964 | http://www.ebi.ac.uk/efo/EFO_0003860 |
Borderline Exocrine Pancreatic Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000133 | http://www.ebi.ac.uk/efo/EFO_0003860 |
benign neoplasm of pancreas | http://purl.obolibrary.org/obo/MONDO_0021470 | http://www.ebi.ac.uk/efo/EFO_0003860 |
Pancreatic Precancerous Condition | http://www.ebi.ac.uk/efo/EFO_1000443 | http://www.ebi.ac.uk/efo/EFO_0003860 |
Pancreatoblastoma | http://www.ebi.ac.uk/efo/EFO_1000446 | http://www.ebi.ac.uk/efo/EFO_0003860 |
Solid Pseudopapillary Neoplasm of the Pancreas | http://www.ebi.ac.uk/efo/EFO_1000542 | http://www.ebi.ac.uk/efo/EFO_0003860 |
GCGR-related hyperglucagonemia | http://purl.obolibrary.org/obo/MONDO_0018582 | http://www.ebi.ac.uk/efo/EFO_0003860 |
benign digestive system neoplasm | http://purl.obolibrary.org/obo/MONDO_0000385 | http://www.ebi.ac.uk/efo/EFO_0008549 |
Familial hyperaldosteronism type II | http://www.orpha.net/ORDO/Orphanet_404 | http://www.ebi.ac.uk/efo/EFO_0000616 |
erythroplasia | http://www.ebi.ac.uk/efo/EFO_1001786 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Glomus Jugulare Tumor | http://www.ebi.ac.uk/efo/EFO_1001796 | http://www.ebi.ac.uk/efo/EFO_0000616 |
connective and soft tissue neoplasm | http://purl.obolibrary.org/obo/MONDO_0044334 | http://www.ebi.ac.uk/efo/EFO_0000616 |
benign connective and soft tissue neoplasm | http://purl.obolibrary.org/obo/MONDO_0000654 | http://purl.obolibrary.org/obo/MONDO_0044334 |
benign soft tissue neoplasm | http://purl.obolibrary.org/obo/MONDO_0044335 | http://purl.obolibrary.org/obo/MONDO_0000654 |
myxoma | http://purl.obolibrary.org/obo/MONDO_0044784 | http://purl.obolibrary.org/obo/MONDO_0044335 |
Soft Tissue Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000541 | http://purl.obolibrary.org/obo/MONDO_0044334 |
fibromyxoid tumor | http://purl.obolibrary.org/obo/MONDO_0037745 | http://www.ebi.ac.uk/efo/EFO_1000541 |
Ossifying Fibromyxoid Tumor | http://www.ebi.ac.uk/efo/EFO_1000408 | http://purl.obolibrary.org/obo/MONDO_0037745 |
inflammatory myofibroblastic tumor | http://purl.obolibrary.org/obo/MONDO_0015798 | http://www.ebi.ac.uk/efo/EFO_1000541 |
Bladder Inflammatory Myofibroblastic Tumor | http://www.ebi.ac.uk/efo/EFO_1000127 | http://purl.obolibrary.org/obo/MONDO_0015798 |
soft tissue amyloid neoplasm | http://purl.obolibrary.org/obo/MONDO_0024892 | http://www.ebi.ac.uk/efo/EFO_1000541 |
synovium neoplasm | http://purl.obolibrary.org/obo/MONDO_0002528 | http://www.ebi.ac.uk/efo/EFO_1000541 |
PEComa | http://www.ebi.ac.uk/efo/EFO_1000464 | http://www.ebi.ac.uk/efo/EFO_1000541 |
lymphangioleiomyomatosis | http://purl.obolibrary.org/obo/MONDO_0011705 | http://www.ebi.ac.uk/efo/EFO_1000464 |
lymphangiomyoma | http://www.ebi.ac.uk/efo/EFO_1001027 | http://www.ebi.ac.uk/efo/EFO_1000464 |
angiomyolipoma | http://purl.obolibrary.org/obo/MONDO_0002603 | http://www.ebi.ac.uk/efo/EFO_1000464 |
epithelioid type angiomyolipoma | http://purl.obolibrary.org/obo/MONDO_0002606 | http://purl.obolibrary.org/obo/MONDO_0002603 |
Multiple endocrine neoplasia type 1 | http://www.orpha.net/ORDO/Orphanet_652 | http://www.ebi.ac.uk/efo/EFO_0000616 |
virus associated tumor | http://purl.obolibrary.org/obo/MONDO_0017341 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Epstein-Barr virus-related tumor | http://purl.obolibrary.org/obo/MONDO_0017342 | http://purl.obolibrary.org/obo/MONDO_0017341 |
Epstein-Barr virus-associated mesenchymal tumor | http://purl.obolibrary.org/obo/MONDO_0017345 | http://purl.obolibrary.org/obo/MONDO_0017342 |
Epstein-Barr virus-associated malignant lymphoproliferative disorder | http://purl.obolibrary.org/obo/MONDO_0017343 | http://purl.obolibrary.org/obo/MONDO_0017342 |
human herpesvirus 8-related tumor | http://purl.obolibrary.org/obo/MONDO_0015157 | http://purl.obolibrary.org/obo/MONDO_0017341 |
HIV-associated cancer | http://www.ebi.ac.uk/efo/EFO_0009553 | http://purl.obolibrary.org/obo/MONDO_0017341 |
primary peritoneal tumor | http://purl.obolibrary.org/obo/MONDO_0015682 | http://www.ebi.ac.uk/efo/EFO_0000616 |
primary malignant peritoneal tumor | http://purl.obolibrary.org/obo/MONDO_0015683 | http://purl.obolibrary.org/obo/MONDO_0015682 |
primary peritoneal carcinoma | http://purl.obolibrary.org/obo/MONDO_0015686 | http://purl.obolibrary.org/obo/MONDO_0015683 |
benign neoplasm | http://www.ebi.ac.uk/efo/EFO_0002422 | http://www.ebi.ac.uk/efo/EFO_0000616 |
subependymal glioma | http://www.ebi.ac.uk/efo/EFO_1001197 | http://www.ebi.ac.uk/efo/EFO_0002422 |
integumentary system benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000652 | http://www.ebi.ac.uk/efo/EFO_0002422 |
nervous system benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000648 | http://www.ebi.ac.uk/efo/EFO_0002422 |
benign glioma | http://purl.obolibrary.org/obo/MONDO_0000638 | http://purl.obolibrary.org/obo/MONDO_0000648 |
cerebellar pilocytic astrocytoma | http://purl.obolibrary.org/obo/MONDO_0003168 | http://purl.obolibrary.org/obo/MONDO_0000638 |
sensory organ benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000633 | http://purl.obolibrary.org/obo/MONDO_0000648 |
central nervous system organ benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000628 | http://purl.obolibrary.org/obo/MONDO_0000648 |
benign neoplasm of peripheral nervous system | http://purl.obolibrary.org/obo/MONDO_0056804 | http://purl.obolibrary.org/obo/MONDO_0000628 |
Benign Brain Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000107 | http://purl.obolibrary.org/obo/MONDO_0000628 |
benign neoplasm of cerebellum | http://purl.obolibrary.org/obo/MONDO_0021499 | http://www.ebi.ac.uk/efo/EFO_1000107 |
benign neoplasm of spinal cord | http://purl.obolibrary.org/obo/MONDO_0021506 | http://purl.obolibrary.org/obo/MONDO_0000628 |
musculoskeletal system benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000636 | http://www.ebi.ac.uk/efo/EFO_0002422 |
respiratory system benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0000382 | http://www.ebi.ac.uk/efo/EFO_0002422 |
nevus | http://www.ebi.ac.uk/efo/EFO_0000625 | http://www.ebi.ac.uk/efo/EFO_0002422 |
sebaceous of Jadassohn nevus | http://www.ebi.ac.uk/efo/EFO_1001841 | http://www.ebi.ac.uk/efo/EFO_0000625 |
benign urinary system neoplasm | http://purl.obolibrary.org/obo/MONDO_0004180 | http://www.ebi.ac.uk/efo/EFO_0002422 |
kidney benign neoplasm | http://purl.obolibrary.org/obo/MONDO_0002513 | http://purl.obolibrary.org/obo/MONDO_0004180 |
Calcifying Fibrous Tumor | http://www.ebi.ac.uk/efo/EFO_1000148 | http://www.ebi.ac.uk/efo/EFO_0002422 |
nervous system neoplasm | http://purl.obolibrary.org/obo/MONDO_0021248 | http://www.ebi.ac.uk/efo/EFO_0000616 |
neuroepithelial neoplasm | http://purl.obolibrary.org/obo/MONDO_0021193 | http://purl.obolibrary.org/obo/MONDO_0021248 |
glioma | http://www.ebi.ac.uk/efo/EFO_0005543 | http://purl.obolibrary.org/obo/MONDO_0021193 |
mixed glioma | http://purl.obolibrary.org/obo/MONDO_0003268 | http://www.ebi.ac.uk/efo/EFO_0005543 |
ependymal neoplasm | http://www.ebi.ac.uk/efo/EFO_1000027 | http://www.ebi.ac.uk/efo/EFO_0005543 |
ependymoma | http://www.ebi.ac.uk/efo/EFO_1000028 | http://www.ebi.ac.uk/efo/EFO_1000027 |
childhood ependymoma | http://purl.obolibrary.org/obo/MONDO_0003478 | http://www.ebi.ac.uk/efo/EFO_1000028 |
low grade ependymoma | http://purl.obolibrary.org/obo/MONDO_0016697 | http://www.ebi.ac.uk/efo/EFO_1000028 |
Subependymoma | http://www.ebi.ac.uk/efo/EFO_1000553 | http://purl.obolibrary.org/obo/MONDO_0016697 |
subependymal giant cell astrocytoma | http://purl.obolibrary.org/obo/MONDO_0016693 | http://www.ebi.ac.uk/efo/EFO_1000553 |
astrocytoma | http://www.ebi.ac.uk/efo/EFO_0000272 | http://www.ebi.ac.uk/efo/EFO_0005543 |
astrocytoma (excluding glioblastoma) | http://purl.obolibrary.org/obo/MONDO_0019781 | http://www.ebi.ac.uk/efo/EFO_0000272 |
low-grade astrocytoma | http://purl.obolibrary.org/obo/MONDO_0016685 | http://purl.obolibrary.org/obo/MONDO_0019781 |
pilocytic astrocytoma | http://purl.obolibrary.org/obo/MONDO_0016691 | http://purl.obolibrary.org/obo/MONDO_0016685 |
pilomyxoid astrocytoma | http://purl.obolibrary.org/obo/MONDO_0016692 | http://purl.obolibrary.org/obo/MONDO_0016691 |
pleomorphic xanthoastrocytoma | http://purl.obolibrary.org/obo/MONDO_0016690 | http://purl.obolibrary.org/obo/MONDO_0016685 |
brain astrocytoma | http://purl.obolibrary.org/obo/MONDO_0021631 | http://purl.obolibrary.org/obo/MONDO_0019781 |
cerebellar astrocytoma | http://purl.obolibrary.org/obo/MONDO_0003165 | http://purl.obolibrary.org/obo/MONDO_0021631 |
cerebral astrocytoma | http://purl.obolibrary.org/obo/MONDO_0021633 | http://purl.obolibrary.org/obo/MONDO_0021631 |
low grade astrocytic tumor | http://purl.obolibrary.org/obo/MONDO_0021638 | http://www.ebi.ac.uk/efo/EFO_0000272 |
astroblastoma | http://purl.obolibrary.org/obo/MONDO_0016707 | http://www.ebi.ac.uk/efo/EFO_0005543 |
low grade glioma | http://purl.obolibrary.org/obo/MONDO_0021637 | http://www.ebi.ac.uk/efo/EFO_0005543 |
schwannoma | http://www.ebi.ac.uk/efo/EFO_0000693 | http://purl.obolibrary.org/obo/MONDO_0021637 |
peripheral nerve schwannoma | http://purl.obolibrary.org/obo/MONDO_0004820 | http://www.ebi.ac.uk/efo/EFO_0000693 |
melanotic neurilemmoma | http://purl.obolibrary.org/obo/MONDO_0002558 | http://www.ebi.ac.uk/efo/EFO_0000693 |
cellular schwannoma | http://purl.obolibrary.org/obo/MONDO_0002548 | http://www.ebi.ac.uk/efo/EFO_0000693 |
grade II glioma | http://purl.obolibrary.org/obo/MONDO_0021639 | http://purl.obolibrary.org/obo/MONDO_0021637 |
mixed neuronal-glial tumor | http://purl.obolibrary.org/obo/MONDO_0016729 | http://purl.obolibrary.org/obo/MONDO_0021193 |
desmoplastic infantile astrocytoma | http://purl.obolibrary.org/obo/MONDO_0022963 | http://purl.obolibrary.org/obo/MONDO_0016729 |
desmoplastic infantile ganglioglioma | http://purl.obolibrary.org/obo/MONDO_0022965 | http://purl.obolibrary.org/obo/MONDO_0016729 |
dysembryoplastic neuroepithelial tumor | http://www.ebi.ac.uk/efo/EFO_0005551 | http://purl.obolibrary.org/obo/MONDO_0016729 |
ganglioglioma | http://www.ebi.ac.uk/efo/EFO_0003094 | http://purl.obolibrary.org/obo/MONDO_0016729 |
Lhermitte-Duclos disease | http://purl.obolibrary.org/obo/MONDO_0019002 | http://purl.obolibrary.org/obo/MONDO_0016729 |
gangliocytoma | http://purl.obolibrary.org/obo/MONDO_0016730 | http://purl.obolibrary.org/obo/MONDO_0016729 |
rosette-forming glioneuronal tumor of fourth ventricule | http://purl.obolibrary.org/obo/MONDO_0016736 | http://purl.obolibrary.org/obo/MONDO_0016729 |
papillary glioneuronal tumor | http://purl.obolibrary.org/obo/MONDO_0016735 | http://purl.obolibrary.org/obo/MONDO_0016729 |
neuronal tumor | http://purl.obolibrary.org/obo/MONDO_0016726 | http://purl.obolibrary.org/obo/MONDO_0021193 |
Cerebellar Liponeurocytoma | http://www.ebi.ac.uk/efo/EFO_1000159 | http://purl.obolibrary.org/obo/MONDO_0016726 |
tumour of cranial and spinal nerves | http://www.ebi.ac.uk/efo/EFO_0002431 | http://purl.obolibrary.org/obo/MONDO_0021248 |
Tarlov Cysts | http://www.ebi.ac.uk/efo/EFO_1001858 | http://www.ebi.ac.uk/efo/EFO_0002431 |
autonomic nervous system neoplasm | http://purl.obolibrary.org/obo/MONDO_0002366 | http://www.ebi.ac.uk/efo/EFO_0002431 |
nerve sheath neoplasm | http://purl.obolibrary.org/obo/MONDO_0002547 | http://www.ebi.ac.uk/efo/EFO_0002431 |
perineurioma | http://purl.obolibrary.org/obo/MONDO_0019404 | http://purl.obolibrary.org/obo/MONDO_0002547 |
intraneural perineurioma | http://purl.obolibrary.org/obo/MONDO_0015032 | http://purl.obolibrary.org/obo/MONDO_0019404 |
Granular Cell Tumor | http://www.ebi.ac.uk/efo/EFO_1000284 | http://purl.obolibrary.org/obo/MONDO_0002547 |
congenital granular cell tumor | http://purl.obolibrary.org/obo/MONDO_0004527 | http://www.ebi.ac.uk/efo/EFO_1000284 |
Neurothekeoma | http://www.ebi.ac.uk/efo/EFO_1000394 | http://purl.obolibrary.org/obo/MONDO_0002547 |
neurofibroma | http://www.ebi.ac.uk/efo/EFO_0000622 | http://www.ebi.ac.uk/efo/EFO_0002431 |
plexiform neurofibroma | http://www.ebi.ac.uk/efo/EFO_0000658 | http://www.ebi.ac.uk/efo/EFO_0000622 |
dermal neurofibroma | http://www.ebi.ac.uk/efo/EFO_0000397 | http://www.ebi.ac.uk/efo/EFO_0000622 |
Subcutaneous neurofibromas | http://purl.obolibrary.org/obo/HP_0100698 | http://www.ebi.ac.uk/efo/EFO_0000622 |
tumor of cranial and spinal nerves | http://purl.obolibrary.org/obo/MONDO_0016749 | http://purl.obolibrary.org/obo/MONDO_0021248 |
benign peripheral nerve sheath tumor | http://purl.obolibrary.org/obo/MONDO_0016752 | http://purl.obolibrary.org/obo/MONDO_0016749 |
Central Nervous System Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000158 | http://purl.obolibrary.org/obo/MONDO_0021248 |
meningeal neoplasm | http://www.ebi.ac.uk/efo/EFO_0003851 | http://www.ebi.ac.uk/efo/EFO_1000158 |
Meningioma | http://www.orpha.net/ORDO/Orphanet_2495 | http://www.ebi.ac.uk/efo/EFO_0003851 |
Anaplastic (Malignant) Meningioma | http://www.ebi.ac.uk/efo/EFO_1000082 | http://www.orpha.net/ORDO/Orphanet_2495 |
Angiomatous Meningioma | http://www.ebi.ac.uk/efo/EFO_1000086 | http://www.orpha.net/ORDO/Orphanet_2495 |
Fibrous Meningioma | http://www.ebi.ac.uk/efo/EFO_1000258 | http://www.orpha.net/ORDO/Orphanet_2495 |
Atypical Meningioma | http://www.ebi.ac.uk/efo/EFO_1000101 | http://www.orpha.net/ORDO/Orphanet_2495 |
Clear Cell Meningioma | http://www.ebi.ac.uk/efo/EFO_1000180 | http://www.orpha.net/ORDO/Orphanet_2495 |
Chordoid Meningioma | http://www.ebi.ac.uk/efo/EFO_1000176 | http://www.orpha.net/ORDO/Orphanet_2495 |
Primary Melanocytic Lesion of Meninges | http://www.ebi.ac.uk/efo/EFO_1000493 | http://www.orpha.net/ORDO/Orphanet_2495 |
Papillary Meningioma | http://www.ebi.ac.uk/efo/EFO_1000449 | http://www.orpha.net/ORDO/Orphanet_2495 |
Secretory Meningioma | http://www.ebi.ac.uk/efo/EFO_1000522 | http://www.orpha.net/ORDO/Orphanet_2495 |
Rhabdoid Meningioma | http://www.ebi.ac.uk/efo/EFO_1000511 | http://www.orpha.net/ORDO/Orphanet_2495 |
Psammomatous Meningioma | http://www.ebi.ac.uk/efo/EFO_1000500 | http://www.orpha.net/ORDO/Orphanet_2495 |
Microcystic Meningioma | http://www.ebi.ac.uk/efo/EFO_1000376 | http://www.orpha.net/ORDO/Orphanet_2495 |
Metaplastic Meningioma | http://www.ebi.ac.uk/efo/EFO_1000375 | http://www.orpha.net/ORDO/Orphanet_2495 |
Meningeal Melanocytoma | http://www.ebi.ac.uk/efo/EFO_1000370 | http://www.orpha.net/ORDO/Orphanet_2495 |
Meningothelial Meningioma | http://www.ebi.ac.uk/efo/EFO_1000372 | http://www.orpha.net/ORDO/Orphanet_2495 |
Lymphoplasmacyte-Rich Meningioma | http://www.ebi.ac.uk/efo/EFO_1000342 | http://www.orpha.net/ORDO/Orphanet_2495 |
Transitional Meningioma | http://www.ebi.ac.uk/efo/EFO_1000602 | http://www.orpha.net/ORDO/Orphanet_2495 |
meningioma | http://purl.obolibrary.org/obo/MONDO_0016642 | http://www.ebi.ac.uk/efo/EFO_0003851 |
grade II meningioma | http://purl.obolibrary.org/obo/MONDO_0045056 | http://purl.obolibrary.org/obo/MONDO_0016642 |
familial meningioma | http://purl.obolibrary.org/obo/MONDO_0011789 | http://purl.obolibrary.org/obo/MONDO_0016642 |
grade III meningioma | http://purl.obolibrary.org/obo/MONDO_0020634 | http://purl.obolibrary.org/obo/MONDO_0016642 |
primary melanocytic tumor of central nervous system | http://purl.obolibrary.org/obo/MONDO_0016744 | http://www.ebi.ac.uk/efo/EFO_0003851 |
Diffuse Melanocytosis | http://www.ebi.ac.uk/efo/EFO_1000216 | http://www.ebi.ac.uk/efo/EFO_0003851 |
Meningioangiomatosis | http://www.ebi.ac.uk/efo/EFO_1000371 | http://www.ebi.ac.uk/efo/EFO_0003851 |
brain neoplasm | http://www.ebi.ac.uk/efo/EFO_0003833 | http://www.ebi.ac.uk/efo/EFO_1000158 |
infratentorial neoplasm | http://purl.obolibrary.org/obo/MONDO_0037736 | http://www.ebi.ac.uk/efo/EFO_0003833 |
childhood infratentorial neoplasm | http://purl.obolibrary.org/obo/MONDO_0002915 | http://purl.obolibrary.org/obo/MONDO_0037736 |
childhood cerebellar neoplasm | http://purl.obolibrary.org/obo/MONDO_0003263 | http://purl.obolibrary.org/obo/MONDO_0002915 |
brain stem neoplasm | http://www.ebi.ac.uk/efo/EFO_1001767 | http://www.ebi.ac.uk/efo/EFO_0003833 |
Adamantinomatous Craniopharyngioma | http://www.ebi.ac.uk/efo/EFO_1000069 | http://www.ebi.ac.uk/efo/EFO_0003833 |
cerebellar neoplasm | http://purl.obolibrary.org/obo/MONDO_0002913 | http://www.ebi.ac.uk/efo/EFO_0003833 |
choroid plexus neoplasm | http://purl.obolibrary.org/obo/MONDO_0016717 | http://www.ebi.ac.uk/efo/EFO_0003833 |
neoplasm of cerebral hemisphere | http://purl.obolibrary.org/obo/MONDO_0021374 | http://www.ebi.ac.uk/efo/EFO_0003833 |
Benign Childhood Cerebral Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000109 | http://www.ebi.ac.uk/efo/EFO_0003833 |
Choroid Plexus Papilloma | http://www.ebi.ac.uk/efo/EFO_1000177 | http://www.ebi.ac.uk/efo/EFO_0003833 |
Papillary Tumor of the Pineal Region | http://www.ebi.ac.uk/efo/EFO_1000451 | http://www.ebi.ac.uk/efo/EFO_0003833 |
primary brain neoplasm | http://purl.obolibrary.org/obo/MONDO_0021632 | http://www.ebi.ac.uk/efo/EFO_0003833 |
Papillary Craniopharyngioma | http://www.ebi.ac.uk/efo/EFO_1000447 | http://www.ebi.ac.uk/efo/EFO_0003833 |
hypothalamic neoplasm | http://www.ebi.ac.uk/efo/EFO_1000979 | http://www.ebi.ac.uk/efo/EFO_0003833 |
cerebellum cancer | http://www.ebi.ac.uk/efo/EFO_1000858 | http://www.ebi.ac.uk/efo/EFO_0003833 |
spinal cord neoplasm | http://www.ebi.ac.uk/efo/EFO_0003828 | http://www.ebi.ac.uk/efo/EFO_1000158 |
epidural neoplasm | http://www.ebi.ac.uk/efo/EFO_1000923 | http://www.ebi.ac.uk/efo/EFO_0003828 |
epidural abscess | http://www.ebi.ac.uk/efo/EFO_0007260 | http://www.ebi.ac.uk/efo/EFO_1000158 |
Adenomatosis, Pulmonary | http://www.ebi.ac.uk/efo/EFO_1001258 | http://www.ebi.ac.uk/efo/EFO_0000616 |
melanocytic neoplasm | http://purl.obolibrary.org/obo/MONDO_0021143 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Leiomyoma, Epithelioid | http://www.ebi.ac.uk/efo/EFO_1001356 | http://www.ebi.ac.uk/efo/EFO_0000616 |
Mediastinal Cyst | http://www.ebi.ac.uk/efo/EFO_1001368 | http://www.ebi.ac.uk/efo/EFO_0000616 |
mixed neoplasm | http://purl.obolibrary.org/obo/MONDO_0021043 | http://www.ebi.ac.uk/efo/EFO_0000616 |
fibroepithelial neoplasm | http://www.ebi.ac.uk/efo/EFO_0007271 | http://purl.obolibrary.org/obo/MONDO_0021043 |
phyllodes tumor | http://www.ebi.ac.uk/efo/EFO_0000653 | http://www.ebi.ac.uk/efo/EFO_0007271 |
urinary system neoplasm | http://purl.obolibrary.org/obo/MONDO_0021066 | http://www.ebi.ac.uk/efo/EFO_0000616 |
kidney neoplasm | http://www.ebi.ac.uk/efo/EFO_0003865 | http://purl.obolibrary.org/obo/MONDO_0021066 |
renal pelvis neoplasm | http://purl.obolibrary.org/obo/MONDO_0003719 | http://www.ebi.ac.uk/efo/EFO_0003865 |
childhood kidney neoplasm | http://purl.obolibrary.org/obo/MONDO_0002730 | http://www.ebi.ac.uk/efo/EFO_0003865 |
Cystic Nephroma | http://www.ebi.ac.uk/efo/EFO_1000213 | http://www.ebi.ac.uk/efo/EFO_0003865 |
Kidney Angiomyolipoma | http://www.ebi.ac.uk/efo/EFO_1000312 | http://www.ebi.ac.uk/efo/EFO_0003865 |
Kidney Cyst | http://www.ebi.ac.uk/efo/EFO_1000313 | http://www.ebi.ac.uk/efo/EFO_0003865 |
Benign Renal Pelvis Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000118 | http://www.ebi.ac.uk/efo/EFO_0003865 |
Benign Kidney Neoplasm | http://www.ebi.ac.uk/efo/EFO_1000111 | http://www.ebi.ac.uk/efo/EFO_0003865 |
Renal Angiomyoadenomatous Tumor | http://www.ebi.ac.uk/efo/EFO_1000507 | http://www.ebi.ac.uk/efo/EFO_0003865 |
Mixed Epithelial Stromal Tumor of the Kidney | http://www.ebi.ac.uk/efo/EFO_1000381 | http://www.ebi.ac.uk/efo/EFO_0003865 |
Kidney Oncocytoma | http://www.ebi.ac.uk/efo/EFO_1000315 | http://www.ebi.ac.uk/efo/EFO_0003865 |
Ossifying Renal Tumor of Infancy | http://www.ebi.ac.uk/efo/EFO_1000409 | http://www.ebi.ac.uk/efo/EFO_0003865 |
urethral neoplasm | http://www.ebi.ac.uk/efo/EFO_0003846 | http://purl.obolibrary.org/obo/MONDO_0021066 |
ureteral neoplasm | http://www.ebi.ac.uk/efo/EFO_0003844 | http://purl.obolibrary.org/obo/MONDO_0021066 |
bladder tumor | http://www.ebi.ac.uk/efo/EFO_0000294 | http://purl.obolibrary.org/obo/MONDO_0021066 |
Bladder Flat Intraepithelial Lesion | http://www.ebi.ac.uk/efo/EFO_1000126 | http://www.ebi.ac.uk/efo/EFO_0000294 |
childhood neoplasm | http://purl.obolibrary.org/obo/MONDO_0021079 | http://www.ebi.ac.uk/efo/EFO_0000616 |
precancerous condition | http://purl.obolibrary.org/obo/MONDO_0021074 | http://purl.obolibrary.org/obo/MONDO_0045024 |
neoplastic polyp | http://purl.obolibrary.org/obo/MONDO_0021075 | http://purl.obolibrary.org/obo/MONDO_0021074 |
polyposis | http://purl.obolibrary.org/obo/MONDO_0000147 | http://purl.obolibrary.org/obo/MONDO_0021075 |
genetic intestinal polyposis | http://purl.obolibrary.org/obo/MONDO_0018188 | http://purl.obolibrary.org/obo/MONDO_0000147 |
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | http://purl.obolibrary.org/obo/MONDO_0008278 | http://purl.obolibrary.org/obo/MONDO_0018188 |
hyperplastic polyposis syndrome | http://purl.obolibrary.org/obo/MONDO_0015524 | http://purl.obolibrary.org/obo/MONDO_0018188 |
sessile serrated polyposis cancer syndrome | http://purl.obolibrary.org/obo/MONDO_0014919 | http://purl.obolibrary.org/obo/MONDO_0015524 |
hereditary mixed polyposis syndrome | http://purl.obolibrary.org/obo/MONDO_0011023 | http://purl.obolibrary.org/obo/MONDO_0018188 |
juvenile polyposis syndrome | http://purl.obolibrary.org/obo/MONDO_0017380 | http://purl.obolibrary.org/obo/MONDO_0018188 |
generalized juvenile polyposis/juvenile polyposis coli | http://purl.obolibrary.org/obo/MONDO_0008276 | http://purl.obolibrary.org/obo/MONDO_0017380 |
juvenile polyposis of infancy | http://purl.obolibrary.org/obo/MONDO_0019190 | http://purl.obolibrary.org/obo/MONDO_0017380 |
Bannayan-Riley-Ruvalcaba syndrome | http://purl.obolibrary.org/obo/MONDO_0007924 | http://purl.obolibrary.org/obo/MONDO_0018188 |
clonal hematopoiesis | http://www.ebi.ac.uk/efo/EFO_0010819 | http://purl.obolibrary.org/obo/MONDO_0021074 |
leukoplakia | http://purl.obolibrary.org/obo/MONDO_0043243 | http://purl.obolibrary.org/obo/MONDO_0021074 |
leukoplakia of penis | http://www.ebi.ac.uk/efo/EFO_1001015 | http://purl.obolibrary.org/obo/MONDO_0043243 |
esophageal leukoplakia | http://purl.obolibrary.org/obo/MONDO_0004697 | http://purl.obolibrary.org/obo/MONDO_0043243 |
cancer-related condition | http://purl.obolibrary.org/obo/MONDO_0045054 | http://purl.obolibrary.org/obo/MONDO_0045024 |
leather-bottle stomach | http://purl.obolibrary.org/obo/MONDO_0002839 | http://purl.obolibrary.org/obo/MONDO_0045054 |
polyp | http://www.ebi.ac.uk/efo/EFO_0000662 | http://purl.obolibrary.org/obo/MONDO_0045024 |
fibroepithelial polyp | http://purl.obolibrary.org/obo/MONDO_0060765 | http://www.ebi.ac.uk/efo/EFO_0000662 |
fibroepithelial polyp of the anus | http://www.ebi.ac.uk/efo/EFO_1000699 | http://purl.obolibrary.org/obo/MONDO_0060765 |
fibroepithelial polyp of urethra | http://www.ebi.ac.uk/efo/EFO_1000700 | http://purl.obolibrary.org/obo/MONDO_0060765 |
vulva fibroepithelial polyp | http://www.ebi.ac.uk/efo/EFO_1000777 | http://purl.obolibrary.org/obo/MONDO_0060765 |
stomach polyp | http://purl.obolibrary.org/obo/MONDO_0008277 | http://www.ebi.ac.uk/efo/EFO_0000662 |
female genital tract polyp | http://www.ebi.ac.uk/efo/EFO_0008622 | http://www.ebi.ac.uk/efo/EFO_0000662 |
cervical polyp | http://www.ebi.ac.uk/efo/EFO_0009475 | http://www.ebi.ac.uk/efo/EFO_0008622 |
uterine polyp | http://www.ebi.ac.uk/efo/EFO_0009484 | http://www.ebi.ac.uk/efo/EFO_0008622 |
intestinal polyp | http://www.ebi.ac.uk/efo/EFO_0003855 | http://www.ebi.ac.uk/efo/EFO_0000662 |
gastrointestinal polyp | http://purl.obolibrary.org/obo/MONDO_0024292 | http://www.ebi.ac.uk/efo/EFO_0000662 |
anal polyp | http://purl.obolibrary.org/obo/MONDO_0060766 | http://purl.obolibrary.org/obo/MONDO_0024292 |
polyp of gallbladder | http://purl.obolibrary.org/obo/MONDO_0021416 | http://www.ebi.ac.uk/efo/EFO_0000662 |
Hyperplastic Polyp | http://www.ebi.ac.uk/efo/EFO_1000299 | http://www.ebi.ac.uk/efo/EFO_0000662 |
Appendix Hyperplastic Polyp | http://www.ebi.ac.uk/efo/EFO_1000091 | http://www.ebi.ac.uk/efo/EFO_1000299 |
polyp of large intestine | http://purl.obolibrary.org/obo/MONDO_0021392 | http://www.ebi.ac.uk/efo/EFO_0000662 |
polyp of colon | http://purl.obolibrary.org/obo/MONDO_0021400 | http://purl.obolibrary.org/obo/MONDO_0021392 |
polyp of rectum | http://purl.obolibrary.org/obo/MONDO_0021398 | http://purl.obolibrary.org/obo/MONDO_0021392 |
Rectal Hyperplastic Polyp | http://www.ebi.ac.uk/efo/EFO_1000502 | http://purl.obolibrary.org/obo/MONDO_0021398 |
polyp of vulva | http://purl.obolibrary.org/obo/MONDO_0021396 | http://www.ebi.ac.uk/efo/EFO_0000662 |
Nasal Cavity Polyp | http://www.ebi.ac.uk/efo/EFO_1000391 | http://www.ebi.ac.uk/efo/EFO_0000662 |
vocal cord polyp | http://www.ebi.ac.uk/efo/EFO_0009478 | http://www.ebi.ac.uk/efo/EFO_0000662 |
hyperplasia | http://www.ebi.ac.uk/efo/EFO_0000536 | http://purl.obolibrary.org/obo/MONDO_0045024 |
immunoproliferative small intestinal disease | http://www.ebi.ac.uk/efo/EFO_1001798 | http://www.ebi.ac.uk/efo/EFO_0000536 |
thymus hyperplasia | http://www.ebi.ac.uk/efo/EFO_1001860 | http://www.ebi.ac.uk/efo/EFO_0000536 |
urothelial hyperplasia | http://purl.obolibrary.org/obo/MONDO_0024483 | http://www.ebi.ac.uk/efo/EFO_0000536 |
Flat Urothelial Hyperplasia | http://www.ebi.ac.uk/efo/EFO_1000259 | http://purl.obolibrary.org/obo/MONDO_0024483 |
Atypical Endometrial Hyperplasia | http://www.ebi.ac.uk/efo/EFO_1000098 | http://www.ebi.ac.uk/efo/EFO_0000536 |
Adrenal Medullary Hyperplasia | http://www.ebi.ac.uk/efo/EFO_1000076 | http://www.ebi.ac.uk/efo/EFO_0000536 |
neuroendocrine cell hyperplasia of infancy | http://purl.obolibrary.org/obo/MONDO_0016322 | http://www.ebi.ac.uk/efo/EFO_0000536 |
benign prostatic hyperplasia | http://www.ebi.ac.uk/efo/EFO_0000284 | http://www.ebi.ac.uk/efo/EFO_0000536 |
Hyperplastic polyposis syndrome | http://www.orpha.net/ORDO/Orphanet_157798 | http://www.ebi.ac.uk/efo/EFO_0000536 |
Endometrial Hyperplasia without Atypia | http://www.ebi.ac.uk/efo/EFO_1000234 | http://www.ebi.ac.uk/efo/EFO_0000536 |
Complex Endometrial Hyperplasia | http://www.ebi.ac.uk/efo/EFO_1000202 | http://www.ebi.ac.uk/efo/EFO_0000536 |
focal epithelial hyperplasia | http://www.ebi.ac.uk/efo/EFO_0007275 | http://www.ebi.ac.uk/efo/EFO_0000536 |
C-Cell Hyperplasia | http://www.ebi.ac.uk/efo/EFO_1000147 | http://www.ebi.ac.uk/efo/EFO_0000536 |
Parathyroid Hyperplasia | http://www.ebi.ac.uk/efo/EFO_1000457 | http://www.ebi.ac.uk/efo/EFO_0000536 |
Simple Endometrial Hyperplasia | http://www.ebi.ac.uk/efo/EFO_1000525 | http://www.ebi.ac.uk/efo/EFO_0000536 |
neointimal hyperplasia | http://www.ebi.ac.uk/efo/EFO_0009652 | http://www.ebi.ac.uk/efo/EFO_0000536 |
disorder of development or morphogenesis | http://purl.obolibrary.org/obo/MONDO_0021147 | http://www.ebi.ac.uk/efo/EFO_0000408 |
short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | http://purl.obolibrary.org/obo/MONDO_0013889 | http://purl.obolibrary.org/obo/MONDO_0021147 |
macrocephaly-autism syndrome | http://purl.obolibrary.org/obo/MONDO_0011537 | http://purl.obolibrary.org/obo/MONDO_0021147 |
odontomatosis-aortae esophagus stenosis syndrome | http://purl.obolibrary.org/obo/MONDO_0008118 | http://purl.obolibrary.org/obo/MONDO_0021147 |
keratinization disease | http://purl.obolibrary.org/obo/MONDO_0045011 | http://purl.obolibrary.org/obo/MONDO_0021147 |
keratosis | http://www.ebi.ac.uk/efo/EFO_1000720 | http://purl.obolibrary.org/obo/MONDO_0045011 |
seborrheic keratosis | http://www.ebi.ac.uk/efo/EFO_0005584 | http://www.ebi.ac.uk/efo/EFO_1000720 |
melanoacanthoma | http://www.ebi.ac.uk/efo/EFO_1000733 | http://www.ebi.ac.uk/efo/EFO_0005584 |
inverted follicular keratosis | http://www.ebi.ac.uk/efo/EFO_1000717 | http://www.ebi.ac.uk/efo/EFO_0005584 |
keratosis follicularis spinulosa decalvans | http://purl.obolibrary.org/obo/MONDO_0000136 | http://www.ebi.ac.uk/efo/EFO_1000720 |
hereditary papulotranslucent acrokeratoderma | http://www.ebi.ac.uk/efo/EFO_1000708 | http://www.ebi.ac.uk/efo/EFO_1000720 |
porokeratosis | http://www.ebi.ac.uk/efo/EFO_1000757 | http://www.ebi.ac.uk/efo/EFO_1000720 |
porokeratosis plantaris palmaris et disseminata | http://purl.obolibrary.org/obo/MONDO_0008291 | http://www.ebi.ac.uk/efo/EFO_1000757 |
porokeratosis of Mibelli | http://purl.obolibrary.org/obo/MONDO_0019141 | http://www.ebi.ac.uk/efo/EFO_1000757 |
disseminated superficial actinic porokeratosis | http://purl.obolibrary.org/obo/MONDO_0019212 | http://www.ebi.ac.uk/efo/EFO_1000757 |
palmoplantar keratosis | http://www.ebi.ac.uk/efo/EFO_1000745 | http://www.ebi.ac.uk/efo/EFO_1000720 |
hereditary palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0019272 | http://www.ebi.ac.uk/efo/EFO_1000745 |
focal palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0017672 | http://purl.obolibrary.org/obo/MONDO_0019272 |
hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome | http://purl.obolibrary.org/obo/MONDO_0011884 | http://purl.obolibrary.org/obo/MONDO_0017672 |
isolated focal palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0017673 | http://purl.obolibrary.org/obo/MONDO_0017672 |
hereditary painful callosities | http://purl.obolibrary.org/obo/MONDO_0007248 | http://purl.obolibrary.org/obo/MONDO_0017673 |
striate palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0018865 | http://purl.obolibrary.org/obo/MONDO_0017673 |
focal palmoplantar keratoderma with joint keratoses | http://purl.obolibrary.org/obo/MONDO_0018252 | http://purl.obolibrary.org/obo/MONDO_0017673 |
focal palmoplantar and gingival keratoderma | http://purl.obolibrary.org/obo/MONDO_0007860 | http://purl.obolibrary.org/obo/MONDO_0017672 |
palmoplantar keratoderma-esophageal carcinoma syndrome | http://purl.obolibrary.org/obo/MONDO_0007856 | http://purl.obolibrary.org/obo/MONDO_0017672 |
tyrosinemia type II | http://purl.obolibrary.org/obo/MONDO_0010160 | http://purl.obolibrary.org/obo/MONDO_0017672 |
pachyonychia congenita | http://purl.obolibrary.org/obo/MONDO_0016471 | http://purl.obolibrary.org/obo/MONDO_0017672 |
punctate palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0017675 | http://purl.obolibrary.org/obo/MONDO_0019272 |
isolated punctate palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0016518 | http://purl.obolibrary.org/obo/MONDO_0017675 |
punctate palmoplantar keratoderma type 2 | http://purl.obolibrary.org/obo/MONDO_0008292 | http://purl.obolibrary.org/obo/MONDO_0016518 |
marginal papular palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0017676 | http://purl.obolibrary.org/obo/MONDO_0016518 |
focal acral hyperkeratosis | http://purl.obolibrary.org/obo/MONDO_0017677 | http://purl.obolibrary.org/obo/MONDO_0017676 |
punctate palmoplantar keratoderma type III | http://www.ebi.ac.uk/efo/EFO_1000758 | http://purl.obolibrary.org/obo/MONDO_0017676 |
punctate palmoplantar keratoderma type 1 | http://purl.obolibrary.org/obo/MONDO_0019332 | http://purl.obolibrary.org/obo/MONDO_0016518 |
diffuse palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0017666 | http://purl.obolibrary.org/obo/MONDO_0019272 |
Naegeli-Franceschetti-Jadassohn syndrome | http://purl.obolibrary.org/obo/MONDO_0008059 | http://purl.obolibrary.org/obo/MONDO_0017666 |
skin fragility-woolly hair-palmoplantar keratoderma syndrome | http://purl.obolibrary.org/obo/MONDO_0011882 | http://purl.obolibrary.org/obo/MONDO_0017666 |
Curly hair - acral keratoderma - caries syndrome | http://purl.obolibrary.org/obo/MONDO_0011883 | http://purl.obolibrary.org/obo/MONDO_0017666 |
Naxos disease | http://purl.obolibrary.org/obo/MONDO_0011017 | http://purl.obolibrary.org/obo/MONDO_0017666 |
autosomal dominant diffuse mutilating palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0017670 | http://purl.obolibrary.org/obo/MONDO_0017666 |
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | http://purl.obolibrary.org/obo/MONDO_0011169 | http://purl.obolibrary.org/obo/MONDO_0017670 |
loricrin keratoderma | http://purl.obolibrary.org/obo/MONDO_0011396 | http://purl.obolibrary.org/obo/MONDO_0017670 |
keratoderma hereditarium mutilans | http://purl.obolibrary.org/obo/MONDO_0007422 | http://purl.obolibrary.org/obo/MONDO_0017670 |
Olmsted syndrome | http://purl.obolibrary.org/obo/MONDO_0031421 | http://purl.obolibrary.org/obo/MONDO_0017670 |
Olmsted syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0100296 | http://purl.obolibrary.org/obo/MONDO_0031421 |
isolated diffuse palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0017667 | http://purl.obolibrary.org/obo/MONDO_0017666 |
erythrokeratodermia variabilis | http://purl.obolibrary.org/obo/MONDO_0017851 | http://purl.obolibrary.org/obo/MONDO_0017667 |
erythrokeratodermia variabilis et progressiva 4 | http://purl.obolibrary.org/obo/MONDO_0033014 | http://purl.obolibrary.org/obo/MONDO_0017851 |
transgrediens et progrediens palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0018853 | http://purl.obolibrary.org/obo/MONDO_0017851 |
autosomal dominant isolated diffuse palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0020093 | http://purl.obolibrary.org/obo/MONDO_0017667 |
epidermolytic palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0007758 | http://purl.obolibrary.org/obo/MONDO_0020093 |
diffuse palmoplantar keratoderma with painful fissures | http://purl.obolibrary.org/obo/MONDO_0018250 | http://purl.obolibrary.org/obo/MONDO_0020093 |
autosomal recessive isolated diffuse palmoplantar keratoderma | http://purl.obolibrary.org/obo/MONDO_0020096 | http://purl.obolibrary.org/obo/MONDO_0017667 |
mal de Meleda | http://purl.obolibrary.org/obo/MONDO_0009552 | http://purl.obolibrary.org/obo/MONDO_0020096 |
hereditary palmoplantar keratoderma, Gamborg-Nielsen type | http://purl.obolibrary.org/obo/MONDO_0009489 | http://purl.obolibrary.org/obo/MONDO_0020096 |
palmoplantar keratoderma, Nagashima type | http://purl.obolibrary.org/obo/MONDO_0014272 | http://purl.obolibrary.org/obo/MONDO_0020096 |
odonto-onycho-dermal dysplasia | http://purl.obolibrary.org/obo/MONDO_0009773 | http://purl.obolibrary.org/obo/MONDO_0017666 |
autosomal dominant palmoplantar keratoderma and congenital alopecia | http://purl.obolibrary.org/obo/MONDO_0007083 | http://purl.obolibrary.org/obo/MONDO_0017666 |
diffuse palmoplantar keratoderma - acrocyanosis syndrome | http://purl.obolibrary.org/obo/MONDO_0019489 | http://purl.obolibrary.org/obo/MONDO_0017666 |
dermatopathia pigmentosa reticularis | http://purl.obolibrary.org/obo/MONDO_0007445 | http://purl.obolibrary.org/obo/MONDO_0017666 |
Clouston syndrome | http://purl.obolibrary.org/obo/MONDO_0007510 | http://purl.obolibrary.org/obo/MONDO_0017666 |
Bart-Pumphrey syndrome | http://purl.obolibrary.org/obo/MONDO_0007866 | http://purl.obolibrary.org/obo/MONDO_0017666 |
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome | http://purl.obolibrary.org/obo/MONDO_0007853 | http://purl.obolibrary.org/obo/MONDO_0017666 |
palmoplantar keratoderma-spastic paralysis syndrome | http://purl.obolibrary.org/obo/MONDO_0016353 | http://purl.obolibrary.org/obo/MONDO_0007853 |
palmoplantar keratoderma-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0007852 | http://purl.obolibrary.org/obo/MONDO_0017666 |
keratosis palmaris et plantaris-clinodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0007857 | http://purl.obolibrary.org/obo/MONDO_0017666 |
palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | http://purl.obolibrary.org/obo/MONDO_0012530 | http://purl.obolibrary.org/obo/MONDO_0017666 |
SchC6pf-Schulz-Passarge syndrome | http://purl.obolibrary.org/obo/MONDO_0009145 | http://purl.obolibrary.org/obo/MONDO_0017666 |
Papillon-Lefevre disease | http://purl.obolibrary.org/obo/MONDO_0009490 | http://purl.obolibrary.org/obo/MONDO_0017666 |
Haim-Munk syndrome | http://purl.obolibrary.org/obo/MONDO_0009491 | http://purl.obolibrary.org/obo/MONDO_0017666 |
CEDNIK syndrome | http://purl.obolibrary.org/obo/MONDO_0012290 | http://purl.obolibrary.org/obo/MONDO_0017666 |
KID syndrome | http://purl.obolibrary.org/obo/MONDO_0018781 | http://purl.obolibrary.org/obo/MONDO_0017666 |
ichthyosiform erythroderma, corneal involvement, and hearing loss | http://purl.obolibrary.org/obo/MONDO_0009440 | http://purl.obolibrary.org/obo/MONDO_0018781 |
corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | http://purl.obolibrary.org/obo/MONDO_0014089 | http://purl.obolibrary.org/obo/MONDO_0017666 |
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0014131 | http://purl.obolibrary.org/obo/MONDO_0017666 |
palmoplantar keratoderma-sclerodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0008416 | http://purl.obolibrary.org/obo/MONDO_0017666 |
autosomal recessive palmoplantar keratoderma and congenital alopecia | http://purl.obolibrary.org/obo/MONDO_0008923 | http://purl.obolibrary.org/obo/MONDO_0017666 |
palmoplantar keratoderma i, striate, focal, or diffuse | http://purl.obolibrary.org/obo/MONDO_0007859 | http://purl.obolibrary.org/obo/MONDO_0019272 |
Punctate palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_307967 | http://purl.obolibrary.org/obo/MONDO_0019272 |
Isolated punctate palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_2338 | http://www.orpha.net/ORDO/Orphanet_307967 |
Porokeratosis plantaris palmaris et disseminata | http://www.orpha.net/ORDO/Orphanet_737 | http://www.orpha.net/ORDO/Orphanet_2338 |
Marginal papular palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_307995 | http://www.orpha.net/ORDO/Orphanet_2338 |
Focal acral hyperkeratosis | http://www.orpha.net/ORDO/Orphanet_308013 | http://www.orpha.net/ORDO/Orphanet_307995 |
Punctate palmoplantar keratoderma type 1 | http://www.orpha.net/ORDO/Orphanet_79501 | http://www.orpha.net/ORDO/Orphanet_2338 |
Punctate palmoplantar keratoderma type 2 | http://www.orpha.net/ORDO/Orphanet_79502 | http://www.orpha.net/ORDO/Orphanet_2338 |
Disease with punctate palmoplantar keratoderma as a major feature | http://www.orpha.net/ORDO/Orphanet_308023 | http://www.orpha.net/ORDO/Orphanet_307967 |
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature | http://www.orpha.net/ORDO/Orphanet_308031 | http://www.orpha.net/ORDO/Orphanet_308023 |
Palmoplantar keratoderma-spastic paralysis syndrome | http://www.orpha.net/ORDO/Orphanet_2201 | http://www.orpha.net/ORDO/Orphanet_308031 |
Hypopigmentation-punctate palmoplantar keratoderma syndrome | http://www.orpha.net/ORDO/Orphanet_324561 | http://www.orpha.net/ORDO/Orphanet_308031 |
Hyperkeratosis-hyperpigmentation syndrome | http://www.orpha.net/ORDO/Orphanet_1336 | http://www.orpha.net/ORDO/Orphanet_308031 |
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature | http://www.orpha.net/ORDO/Orphanet_308041 | http://www.orpha.net/ORDO/Orphanet_308023 |
Leukoencephalopathy-palmoplantar keratoderma syndrome | http://www.orpha.net/ORDO/Orphanet_2386 | http://www.orpha.net/ORDO/Orphanet_308041 |
palmoplantar keratoderma, nonepidermolytic, focal or diffuse | http://purl.obolibrary.org/obo/MONDO_0014327 | http://purl.obolibrary.org/obo/MONDO_0019272 |
cholesteatoma | http://www.ebi.ac.uk/efo/EFO_1000675 | http://www.ebi.ac.uk/efo/EFO_1000720 |
cholesteatoma of middle ear | http://www.ebi.ac.uk/efo/EFO_1000678 | http://www.ebi.ac.uk/efo/EFO_1000675 |
cholesteatoma of attic | http://www.ebi.ac.uk/efo/EFO_1000676 | http://www.ebi.ac.uk/efo/EFO_1000678 |
maxillary sinus cholesteatoma | http://www.ebi.ac.uk/efo/EFO_1000731 | http://www.ebi.ac.uk/efo/EFO_1000675 |
cholesteatoma of external ear | http://www.ebi.ac.uk/efo/EFO_1000677 | http://www.ebi.ac.uk/efo/EFO_1000675 |
acquired keratosis | http://www.ebi.ac.uk/efo/EFO_1000663 | http://www.ebi.ac.uk/efo/EFO_1000720 |
acrokeratosis verruciformis | http://www.ebi.ac.uk/efo/EFO_1000666 | http://www.ebi.ac.uk/efo/EFO_1000720 |
horizontal gaze palsy with progressive scoliosis | http://purl.obolibrary.org/obo/MONDO_0011810 | http://purl.obolibrary.org/obo/MONDO_0021147 |
COACH syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0008996 | http://purl.obolibrary.org/obo/MONDO_0021147 |
cleft palate-stapes fixation-oligodontia syndrome | http://purl.obolibrary.org/obo/MONDO_0008993 | http://purl.obolibrary.org/obo/MONDO_0021147 |
genetic syndromic Pierre Robin syndrome | http://purl.obolibrary.org/obo/MONDO_0018187 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Kniest dysplasia | http://purl.obolibrary.org/obo/MONDO_0007987 | http://purl.obolibrary.org/obo/MONDO_0018187 |
Nager acrofacial dysostosis | http://purl.obolibrary.org/obo/MONDO_0007943 | http://purl.obolibrary.org/obo/MONDO_0018187 |
atelosteogenesis type I | http://purl.obolibrary.org/obo/MONDO_0007167 | http://purl.obolibrary.org/obo/MONDO_0018187 |
atelosteogenesis type III | http://purl.obolibrary.org/obo/MONDO_0007168 | http://purl.obolibrary.org/obo/MONDO_0018187 |
TARP syndrome | http://purl.obolibrary.org/obo/MONDO_0010711 | http://purl.obolibrary.org/obo/MONDO_0018187 |
atelosteogenesis type II | http://purl.obolibrary.org/obo/MONDO_0009727 | http://purl.obolibrary.org/obo/MONDO_0018187 |
Stickler syndrome | http://purl.obolibrary.org/obo/MONDO_0019354 | http://purl.obolibrary.org/obo/MONDO_0018187 |
Stickler syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0011493 | http://purl.obolibrary.org/obo/MONDO_0019354 |
Stickler syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0007160 | http://purl.obolibrary.org/obo/MONDO_0019354 |
Autosomal recessive Stickler syndrome | http://www.orpha.net/ORDO/Orphanet_250984 | http://purl.obolibrary.org/obo/MONDO_0019354 |
autosomal recessive Stickler syndrome | http://purl.obolibrary.org/obo/MONDO_0016647 | http://purl.obolibrary.org/obo/MONDO_0019354 |
apert syndrome | http://purl.obolibrary.org/obo/MONDO_0007041 | http://purl.obolibrary.org/obo/MONDO_0018187 |
Treacher-Collins syndrome | http://purl.obolibrary.org/obo/MONDO_0002457 | http://purl.obolibrary.org/obo/MONDO_0018187 |
treacher collins syndrome 4 | http://purl.obolibrary.org/obo/MONDO_0030067 | http://purl.obolibrary.org/obo/MONDO_0002457 |
intellectual disability-brachydactyly-Pierre Robin syndrome | http://purl.obolibrary.org/obo/MONDO_0012095 | http://purl.obolibrary.org/obo/MONDO_0018187 |
22q11.2 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0018923 | http://purl.obolibrary.org/obo/MONDO_0018187 |
congenital unilateral hypoplasia of depressor anguli oris | http://purl.obolibrary.org/obo/MONDO_0007443 | http://purl.obolibrary.org/obo/MONDO_0018923 |
chromosome 22q11.2 deletion syndrome, distal | http://purl.obolibrary.org/obo/MONDO_0012740 | http://purl.obolibrary.org/obo/MONDO_0018923 |
otospondylomegaepiphyseal dysplasia, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0008490 | http://purl.obolibrary.org/obo/MONDO_0018187 |
amelogenesis imperfecta type 1G | http://purl.obolibrary.org/obo/MONDO_0008771 | http://purl.obolibrary.org/obo/MONDO_0021147 |
neurocristopathy | http://purl.obolibrary.org/obo/MONDO_0021635 | http://purl.obolibrary.org/obo/MONDO_0021147 |
piebaldism | http://purl.obolibrary.org/obo/MONDO_0008244 | http://purl.obolibrary.org/obo/MONDO_0021635 |
oculo-auriculo-vertebral spectrum | http://purl.obolibrary.org/obo/MONDO_0015397 | http://purl.obolibrary.org/obo/MONDO_0021635 |
hemifacial microsomia | http://purl.obolibrary.org/obo/MONDO_0015398 | http://purl.obolibrary.org/obo/MONDO_0015397 |
auriculocondylar syndrome | http://purl.obolibrary.org/obo/MONDO_0000107 | http://purl.obolibrary.org/obo/MONDO_0015397 |
Axenfeld-Rieger syndrome | http://purl.obolibrary.org/obo/MONDO_0019187 | http://purl.obolibrary.org/obo/MONDO_0021635 |
Waardenburg-Shah syndrome | http://purl.obolibrary.org/obo/MONDO_0019518 | http://purl.obolibrary.org/obo/MONDO_0021635 |
Riley-Day syndrome | http://purl.obolibrary.org/obo/MONDO_0009131 | http://purl.obolibrary.org/obo/MONDO_0021635 |
craniofrontonasal syndrome | http://purl.obolibrary.org/obo/MONDO_0010570 | http://purl.obolibrary.org/obo/MONDO_0021635 |
neurofibromatosis type 1 | http://purl.obolibrary.org/obo/MONDO_0018975 | http://purl.obolibrary.org/obo/MONDO_0021635 |
chromosome 17q11.2 deletion syndrome, 1.4Mb | http://purl.obolibrary.org/obo/MONDO_0013357 | http://purl.obolibrary.org/obo/MONDO_0018975 |
neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | http://purl.obolibrary.org/obo/MONDO_0018208 | http://purl.obolibrary.org/obo/MONDO_0018975 |
central hypoventilation syndrome, late-onset | http://www.ebi.ac.uk/efo/EFO_0020025 | http://purl.obolibrary.org/obo/MONDO_0021635 |
Hirschsprung disease | http://purl.obolibrary.org/obo/MONDO_0018309 | http://purl.obolibrary.org/obo/MONDO_0021635 |
CHARGE syndrome | http://purl.obolibrary.org/obo/MONDO_0008965 | http://purl.obolibrary.org/obo/MONDO_0021635 |
oculodental syndrome, Rutherfurd type | http://purl.obolibrary.org/obo/MONDO_0008396 | http://purl.obolibrary.org/obo/MONDO_0021147 |
steatocystoma multiplex-natal teeth syndrome | http://purl.obolibrary.org/obo/MONDO_0008486 | http://purl.obolibrary.org/obo/MONDO_0021147 |
hypohidrotic ectodermal dysplasia | http://purl.obolibrary.org/obo/MONDO_0016535 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Hypohidrotic ectodermal dysplasia with immunodeficiency | http://www.orpha.net/ORDO/Orphanet_98813 | http://purl.obolibrary.org/obo/MONDO_0016535 |
autosomal dominant hypohidrotic ectodermal dysplasia | http://purl.obolibrary.org/obo/MONDO_0015884 | http://purl.obolibrary.org/obo/MONDO_0016535 |
ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0007509 | http://purl.obolibrary.org/obo/MONDO_0015884 |
Autosomal recessive hypohidrotic ectodermal dysplasia | http://www.orpha.net/ORDO/Orphanet_248 | http://purl.obolibrary.org/obo/MONDO_0016535 |
ectodermal dysplasia and immune deficiency | http://purl.obolibrary.org/obo/MONDO_0010293 | http://purl.obolibrary.org/obo/MONDO_0016535 |
ectodermal dysplasia and immunodeficiency 1 | http://purl.obolibrary.org/obo/MONDO_0020740 | http://purl.obolibrary.org/obo/MONDO_0010293 |
ectodermal dysplasia and immunodeficiency 2 | http://purl.obolibrary.org/obo/MONDO_0012806 | http://purl.obolibrary.org/obo/MONDO_0010293 |
X-linked hypohidrotic ectodermal dysplasia | http://purl.obolibrary.org/obo/MONDO_0010585 | http://purl.obolibrary.org/obo/MONDO_0016535 |
autosomal recessive hypohidrotic ectodermal dysplasia | http://purl.obolibrary.org/obo/MONDO_0016619 | http://purl.obolibrary.org/obo/MONDO_0016535 |
Autosomal dominant hypohidrotic ectodermal dysplasia | http://www.orpha.net/ORDO/Orphanet_1810 | http://purl.obolibrary.org/obo/MONDO_0016535 |
progressive cerebello-cerebral atrophy | http://purl.obolibrary.org/obo/MONDO_0016589 | http://purl.obolibrary.org/obo/MONDO_0021147 |
congenital hydrocephalus | http://purl.obolibrary.org/obo/MONDO_0016349 | http://purl.obolibrary.org/obo/MONDO_0021147 |
hydrocephalus, congenital, 3, with brain anomalies | http://purl.obolibrary.org/obo/MONDO_0054794 | http://purl.obolibrary.org/obo/MONDO_0016349 |
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | http://purl.obolibrary.org/obo/MONDO_0019375 | http://purl.obolibrary.org/obo/MONDO_0016349 |
congenital non-communicating hydrocephalus | http://purl.obolibrary.org/obo/MONDO_0017117 | http://purl.obolibrary.org/obo/MONDO_0016349 |
congenital communicating hydrocephalus | http://purl.obolibrary.org/obo/MONDO_0017116 | http://purl.obolibrary.org/obo/MONDO_0016349 |
X-linked hydrocephalus with stenosis of the aqueduct of Sylvius | http://purl.obolibrary.org/obo/MONDO_0010611 | http://purl.obolibrary.org/obo/MONDO_0016349 |
hydrocephalus-blue sclerae-nephropathy syndrome | http://purl.obolibrary.org/obo/MONDO_0016350 | http://purl.obolibrary.org/obo/MONDO_0016349 |
lissencephaly spectrum disorders | http://purl.obolibrary.org/obo/MONDO_0018838 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Baraitser-Winter cerebrofrontofacial syndrome | http://purl.obolibrary.org/obo/MONDO_0017579 | http://purl.obolibrary.org/obo/MONDO_0018838 |
classic lissencephaly | http://purl.obolibrary.org/obo/MONDO_0015146 | http://purl.obolibrary.org/obo/MONDO_0018838 |
lissencephaly due to LIS1 mutation | http://purl.obolibrary.org/obo/MONDO_0011830 | http://purl.obolibrary.org/obo/MONDO_0015146 |
isolated lissencephaly type 1 without known genetic defects | http://purl.obolibrary.org/obo/MONDO_0015205 | http://purl.obolibrary.org/obo/MONDO_0015146 |
lissencephaly type 1 due to doublecortin gene mutation | http://purl.obolibrary.org/obo/MONDO_0010239 | http://purl.obolibrary.org/obo/MONDO_0015146 |
Miller-Dieker lissencephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0009532 | http://purl.obolibrary.org/obo/MONDO_0015146 |
lissencephaly type 3 | http://purl.obolibrary.org/obo/MONDO_0015148 | http://purl.obolibrary.org/obo/MONDO_0018838 |
lissencephaly type 3-metacarpal bone dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0011004 | http://purl.obolibrary.org/obo/MONDO_0015148 |
lissencephaly type 3-familial fetal akinesia sequence syndrome | http://purl.obolibrary.org/obo/MONDO_0019449 | http://purl.obolibrary.org/obo/MONDO_0015148 |
lissencephaly due to TUBA1A mutation | http://purl.obolibrary.org/obo/MONDO_0012703 | http://purl.obolibrary.org/obo/MONDO_0015148 |
Neu-Laxova syndrome | http://purl.obolibrary.org/obo/MONDO_0000179 | http://purl.obolibrary.org/obo/MONDO_0015148 |
microlissencephaly | http://purl.obolibrary.org/obo/MONDO_0015204 | http://purl.obolibrary.org/obo/MONDO_0018838 |
Norman-Roberts syndrome | http://purl.obolibrary.org/obo/MONDO_0009760 | http://purl.obolibrary.org/obo/MONDO_0015204 |
lissencephaly with cerebellar hypoplasia | http://purl.obolibrary.org/obo/MONDO_0019450 | http://purl.obolibrary.org/obo/MONDO_0018838 |
lissencephaly with cerebellar hypoplasia type A | http://purl.obolibrary.org/obo/MONDO_0015034 | http://purl.obolibrary.org/obo/MONDO_0019450 |
lissencephaly with cerebellar hypoplasia type B | http://purl.obolibrary.org/obo/MONDO_0015035 | http://purl.obolibrary.org/obo/MONDO_0019450 |
lissencephaly with cerebellar hypoplasia type C | http://purl.obolibrary.org/obo/MONDO_0015036 | http://purl.obolibrary.org/obo/MONDO_0019450 |
lissencephaly with cerebellar hypoplasia type D | http://purl.obolibrary.org/obo/MONDO_0015037 | http://purl.obolibrary.org/obo/MONDO_0019450 |
lissencephaly with cerebellar hypoplasia type E | http://purl.obolibrary.org/obo/MONDO_0015038 | http://purl.obolibrary.org/obo/MONDO_0019450 |
lissencephaly with cerebellar hypoplasia type F | http://purl.obolibrary.org/obo/MONDO_0015039 | http://purl.obolibrary.org/obo/MONDO_0019450 |
lissencephaly 10 | http://purl.obolibrary.org/obo/MONDO_0030031 | http://purl.obolibrary.org/obo/MONDO_0018838 |
lissencephaly 9 with complex brainstem malformation | http://purl.obolibrary.org/obo/MONDO_0032677 | http://purl.obolibrary.org/obo/MONDO_0018838 |
craniotelencephalic dysplasia | http://purl.obolibrary.org/obo/MONDO_0009042 | http://purl.obolibrary.org/obo/MONDO_0018838 |
X-linked lissencephaly with abnormal genitalia | http://purl.obolibrary.org/obo/MONDO_0010268 | http://purl.obolibrary.org/obo/MONDO_0018838 |
cobblestone lissencephaly | http://purl.obolibrary.org/obo/MONDO_0018869 | http://purl.obolibrary.org/obo/MONDO_0018838 |
muscular dystrophy-dystroglycanopathy, type A | http://purl.obolibrary.org/obo/MONDO_0000171 | http://purl.obolibrary.org/obo/MONDO_0018869 |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | http://purl.obolibrary.org/obo/MONDO_0013904 | http://purl.obolibrary.org/obo/MONDO_0000171 |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | http://purl.obolibrary.org/obo/MONDO_0009678 | http://purl.obolibrary.org/obo/MONDO_0000171 |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | http://purl.obolibrary.org/obo/MONDO_0009667 | http://purl.obolibrary.org/obo/MONDO_0000171 |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | http://purl.obolibrary.org/obo/MONDO_0014101 | http://purl.obolibrary.org/obo/MONDO_0000171 |
muscle-eye-brain disease | http://purl.obolibrary.org/obo/MONDO_0018939 | http://purl.obolibrary.org/obo/MONDO_0018869 |
cobblestone lissencephaly without muscular or ocular involvement | http://purl.obolibrary.org/obo/MONDO_0014077 | http://purl.obolibrary.org/obo/MONDO_0018869 |
muscle-eye-brain disease with bilateral multicystic leucodystrophy | http://purl.obolibrary.org/obo/MONDO_0018280 | http://purl.obolibrary.org/obo/MONDO_0018869 |
Warburg micro syndrome | http://purl.obolibrary.org/obo/MONDO_0016649 | http://purl.obolibrary.org/obo/MONDO_0018838 |
genetic vascular anomaly | http://purl.obolibrary.org/obo/MONDO_0016229 | http://purl.obolibrary.org/obo/MONDO_0021147 |
familial multiple nevi flammei | http://purl.obolibrary.org/obo/MONDO_0008094 | http://purl.obolibrary.org/obo/MONDO_0016229 |
Proteus syndrome | http://purl.obolibrary.org/obo/MONDO_0008318 | http://purl.obolibrary.org/obo/MONDO_0016229 |
blue rubber bleb nevus | http://purl.obolibrary.org/obo/MONDO_0007203 | http://purl.obolibrary.org/obo/MONDO_0016229 |
multiple cutaneous and mucosal venous malformations | http://purl.obolibrary.org/obo/MONDO_0010842 | http://purl.obolibrary.org/obo/MONDO_0016229 |
hereditary hemorrhagic telangiectasia | http://purl.obolibrary.org/obo/MONDO_0019180 | http://purl.obolibrary.org/obo/MONDO_0016229 |
telangiectasia, hereditary hemorrhagic, type 1 | http://purl.obolibrary.org/obo/MONDO_0008535 | http://purl.obolibrary.org/obo/MONDO_0019180 |
lymphatic malformation | http://purl.obolibrary.org/obo/MONDO_0019313 | http://purl.obolibrary.org/obo/MONDO_0016229 |
MPI-CDG | http://purl.obolibrary.org/obo/MONDO_0011257 | http://purl.obolibrary.org/obo/MONDO_0019313 |
prolidase deficiency | http://purl.obolibrary.org/obo/MONDO_0008221 | http://purl.obolibrary.org/obo/MONDO_0019313 |
lymphatic malformation 8 | http://purl.obolibrary.org/obo/MONDO_0032907 | http://purl.obolibrary.org/obo/MONDO_0019313 |
lymphatic malformation 5 | http://purl.obolibrary.org/obo/MONDO_0007920 | http://purl.obolibrary.org/obo/MONDO_0019313 |
lymphedema-distichiasis syndrome | http://purl.obolibrary.org/obo/MONDO_0007922 | http://purl.obolibrary.org/obo/MONDO_0019313 |
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | http://purl.obolibrary.org/obo/MONDO_0007918 | http://purl.obolibrary.org/obo/MONDO_0019313 |
lymphatic malformation 7 | http://purl.obolibrary.org/obo/MONDO_0015009 | http://purl.obolibrary.org/obo/MONDO_0019313 |
Yellow Nail Syndrome | http://www.ebi.ac.uk/efo/EFO_1001452 | http://purl.obolibrary.org/obo/MONDO_0019313 |
PEHO syndrome | http://purl.obolibrary.org/obo/MONDO_0009841 | http://purl.obolibrary.org/obo/MONDO_0019313 |
hypotrichosis-lymphedema-telangiectasia syndrome (grouping) | http://purl.obolibrary.org/obo/MONDO_0007670 | http://purl.obolibrary.org/obo/MONDO_0019313 |
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome | http://purl.obolibrary.org/obo/MONDO_0010295 | http://purl.obolibrary.org/obo/MONDO_0019313 |
Fabry disease | http://purl.obolibrary.org/obo/MONDO_0010526 | http://purl.obolibrary.org/obo/MONDO_0019313 |
Dahlberg-Borer-Newcomer syndrome | http://purl.obolibrary.org/obo/MONDO_0009533 | http://purl.obolibrary.org/obo/MONDO_0019313 |
Aarskog-Scott syndrome, X-linked | http://purl.obolibrary.org/obo/MONDO_0010589 | http://purl.obolibrary.org/obo/MONDO_0019313 |
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0014757 | http://purl.obolibrary.org/obo/MONDO_0019313 |
Hennekam syndrome | http://purl.obolibrary.org/obo/MONDO_0016256 | http://purl.obolibrary.org/obo/MONDO_0019313 |
Hennekam lymphangiectasia-lymphedema syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0014454 | http://purl.obolibrary.org/obo/MONDO_0016256 |
Noonan syndrome | http://purl.obolibrary.org/obo/MONDO_0018997 | http://purl.obolibrary.org/obo/MONDO_0019313 |
campomelia, Cumming type | http://purl.obolibrary.org/obo/MONDO_0008896 | http://purl.obolibrary.org/obo/MONDO_0019313 |
congenital anomaly of the great arteries | http://purl.obolibrary.org/obo/MONDO_0020292 | http://purl.obolibrary.org/obo/MONDO_0016229 |
scimitar syndrome | http://www.ebi.ac.uk/efo/EFO_1001167 | http://purl.obolibrary.org/obo/MONDO_0020292 |
aortic malformation | http://purl.obolibrary.org/obo/MONDO_0020286 | http://purl.obolibrary.org/obo/MONDO_0020292 |
Aortic Coarctation | http://www.ebi.ac.uk/efo/EFO_1001267 | http://purl.obolibrary.org/obo/MONDO_0020286 |
atypical coarctation of aorta | http://purl.obolibrary.org/obo/MONDO_0015446 | http://www.ebi.ac.uk/efo/EFO_1001267 |
familial bicuspid aortic valve | http://purl.obolibrary.org/obo/MONDO_0007194 | http://purl.obolibrary.org/obo/MONDO_0020286 |
supravalvular aortic stenosis | http://purl.obolibrary.org/obo/MONDO_0008504 | http://purl.obolibrary.org/obo/MONDO_0020286 |
ascending aorta anomaly | http://purl.obolibrary.org/obo/MONDO_0020293 | http://purl.obolibrary.org/obo/MONDO_0020292 |
aneurysm or dilatation of ascending aorta | http://purl.obolibrary.org/obo/MONDO_0019821 | http://purl.obolibrary.org/obo/MONDO_0020293 |
arterial duct anomaly | http://purl.obolibrary.org/obo/MONDO_0019822 | http://purl.obolibrary.org/obo/MONDO_0020292 |
familial patent arterial duct | http://purl.obolibrary.org/obo/MONDO_0018758 | http://purl.obolibrary.org/obo/MONDO_0019822 |
Char syndrome | http://purl.obolibrary.org/obo/MONDO_0008209 | http://purl.obolibrary.org/obo/MONDO_0018758 |
patent ductus arteriosus 2 | http://purl.obolibrary.org/obo/MONDO_0014878 | http://purl.obolibrary.org/obo/MONDO_0018758 |
glomuvenous malformation | http://purl.obolibrary.org/obo/MONDO_0007672 | http://purl.obolibrary.org/obo/MONDO_0016229 |
angioosteohypertrophic syndrome | http://purl.obolibrary.org/obo/MONDO_0007864 | http://purl.obolibrary.org/obo/MONDO_0016229 |
Parkes Weber syndrome | http://purl.obolibrary.org/obo/MONDO_0012017 | http://purl.obolibrary.org/obo/MONDO_0007864 |
capillary malformation-arteriovenous malformation syndrome | http://purl.obolibrary.org/obo/MONDO_0012016 | http://purl.obolibrary.org/obo/MONDO_0016229 |
famililal cerebral cavernous malformations | http://purl.obolibrary.org/obo/MONDO_0031037 | http://purl.obolibrary.org/obo/MONDO_0016229 |
congenital anomaly of the great veins | http://purl.obolibrary.org/obo/MONDO_0018185 | http://purl.obolibrary.org/obo/MONDO_0016229 |
congenital pulmonary veins anomaly | http://purl.obolibrary.org/obo/MONDO_0020295 | http://purl.obolibrary.org/obo/MONDO_0018185 |
congenital pulmonary venous return anomaly | http://purl.obolibrary.org/obo/MONDO_0017705 | http://purl.obolibrary.org/obo/MONDO_0020295 |
alveolar capillary dysplasia with misalignment of pulmonary veins | http://purl.obolibrary.org/obo/MONDO_0009934 | http://purl.obolibrary.org/obo/MONDO_0020295 |
Berardinelli-Seip congenital lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0018883 | http://purl.obolibrary.org/obo/MONDO_0021147 |
hereditary gingival fibromatosis | http://purl.obolibrary.org/obo/MONDO_0016070 | http://purl.obolibrary.org/obo/MONDO_0021147 |
congenital anomaly of cardiovascular system | http://purl.obolibrary.org/obo/MONDO_0024239 | http://purl.obolibrary.org/obo/MONDO_0021147 |
vascular malformation | http://www.ebi.ac.uk/efo/EFO_0006888 | http://purl.obolibrary.org/obo/MONDO_0024239 |
congenital vascular malformation | http://purl.obolibrary.org/obo/MONDO_0024287 | http://www.ebi.ac.uk/efo/EFO_0006888 |
persistent fetal circulation syndrome | http://www.ebi.ac.uk/efo/EFO_1001103 | http://purl.obolibrary.org/obo/MONDO_0024239 |
congenital heart disease | http://www.ebi.ac.uk/efo/EFO_0005207 | http://purl.obolibrary.org/obo/MONDO_0024239 |
familial long QT syndrome | http://purl.obolibrary.org/obo/MONDO_0019171 | http://www.ebi.ac.uk/efo/EFO_0005207 |
long QT syndrome 3 | http://purl.obolibrary.org/obo/MONDO_0011377 | http://purl.obolibrary.org/obo/MONDO_0019171 |
Andersen-Tawil syndrome | http://purl.obolibrary.org/obo/MONDO_0008222 | http://purl.obolibrary.org/obo/MONDO_0019171 |
long QT syndrome 12 | http://purl.obolibrary.org/obo/MONDO_0013062 | http://purl.obolibrary.org/obo/MONDO_0019171 |
long QT syndrome 13 | http://purl.obolibrary.org/obo/MONDO_0013279 | http://purl.obolibrary.org/obo/MONDO_0019171 |
long QT syndrome 5 | http://purl.obolibrary.org/obo/MONDO_0013372 | http://purl.obolibrary.org/obo/MONDO_0019171 |
long QT syndrome 16 | http://purl.obolibrary.org/obo/MONDO_0032915 | http://purl.obolibrary.org/obo/MONDO_0019171 |
Timothy syndrome | http://purl.obolibrary.org/obo/MONDO_0010979 | http://purl.obolibrary.org/obo/MONDO_0019171 |
long QT syndrome 11 | http://purl.obolibrary.org/obo/MONDO_0012738 | http://purl.obolibrary.org/obo/MONDO_0019171 |
long QT syndrome 10 | http://purl.obolibrary.org/obo/MONDO_0012737 | http://purl.obolibrary.org/obo/MONDO_0019171 |
Jervell and Lange-Nielsen syndrome | http://purl.obolibrary.org/obo/MONDO_0002441 | http://purl.obolibrary.org/obo/MONDO_0019171 |
long QT syndrome 15 | http://purl.obolibrary.org/obo/MONDO_0014550 | http://purl.obolibrary.org/obo/MONDO_0019171 |
long QT syndrome 14 | http://purl.obolibrary.org/obo/MONDO_0014548 | http://purl.obolibrary.org/obo/MONDO_0019171 |
congenital heart malformation | http://www.ebi.ac.uk/efo/EFO_0005269 | http://www.ebi.ac.uk/efo/EFO_0005207 |
Conotruncal heart malformations | http://www.orpha.net/ORDO/Orphanet_2445 | http://www.ebi.ac.uk/efo/EFO_0005269 |
heart position anomaly | http://purl.obolibrary.org/obo/MONDO_0020284 | http://www.ebi.ac.uk/efo/EFO_0005269 |
visceral heterotaxy | http://purl.obolibrary.org/obo/MONDO_0018677 | http://purl.obolibrary.org/obo/MONDO_0020284 |
situs ambiguus | http://purl.obolibrary.org/obo/MONDO_0015522 | http://purl.obolibrary.org/obo/MONDO_0018677 |
heterotaxy, visceral, 9, autosomal, with male infertility | http://purl.obolibrary.org/obo/MONDO_0030070 | http://purl.obolibrary.org/obo/MONDO_0018677 |
situs inversus | http://purl.obolibrary.org/obo/MONDO_0010029 | http://purl.obolibrary.org/obo/MONDO_0018677 |
right atrial isomerism | http://purl.obolibrary.org/obo/MONDO_0008832 | http://purl.obolibrary.org/obo/MONDO_0018677 |
transposition of the great arteries and conotruncal cardiac anomaly | http://purl.obolibrary.org/obo/MONDO_0020285 | http://www.ebi.ac.uk/efo/EFO_0005269 |
transposition of the great arteries | http://purl.obolibrary.org/obo/MONDO_0000153 | http://purl.obolibrary.org/obo/MONDO_0020285 |
dextro-looped transposition of the great arteries | http://purl.obolibrary.org/obo/MONDO_0019443 | http://purl.obolibrary.org/obo/MONDO_0000153 |
congenitally uncorrected transposition of the great arteries with coarctation | http://purl.obolibrary.org/obo/MONDO_0020385 | http://purl.obolibrary.org/obo/MONDO_0019443 |
congenitally uncorrected transposition of the great arteries with cardiac malformation | http://purl.obolibrary.org/obo/MONDO_0016303 | http://purl.obolibrary.org/obo/MONDO_0019443 |
isolated congenitally uncorrected transposition of the great arteries | http://purl.obolibrary.org/obo/MONDO_0016302 | http://purl.obolibrary.org/obo/MONDO_0019443 |
conotruncal heart malformations | http://purl.obolibrary.org/obo/MONDO_0016581 | http://purl.obolibrary.org/obo/MONDO_0020285 |
pulmonary atresia with ventricular septal defect | http://purl.obolibrary.org/obo/MONDO_0008343 | http://purl.obolibrary.org/obo/MONDO_0016581 |
double outlet right ventricle | http://purl.obolibrary.org/obo/MONDO_0018089 | http://purl.obolibrary.org/obo/MONDO_0016581 |
double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis | http://purl.obolibrary.org/obo/MONDO_0020386 | http://purl.obolibrary.org/obo/MONDO_0018089 |
double outlet right ventricle with subpulmonary ventricular septal defect | http://purl.obolibrary.org/obo/MONDO_0020387 | http://purl.obolibrary.org/obo/MONDO_0018089 |
double outlet right ventricle with non-committed subpulmonary ventricular septal defect | http://purl.obolibrary.org/obo/MONDO_0020388 | http://purl.obolibrary.org/obo/MONDO_0018089 |
persistent truncus arteriosus | http://purl.obolibrary.org/obo/MONDO_0018072 | http://purl.obolibrary.org/obo/MONDO_0016581 |
atrioventricular valve anomaly | http://purl.obolibrary.org/obo/MONDO_0020288 | http://www.ebi.ac.uk/efo/EFO_0005269 |
congenital tricuspid malformation | http://purl.obolibrary.org/obo/MONDO_0020289 | http://purl.obolibrary.org/obo/MONDO_0020288 |
tricuspid valve prolapse | http://www.ebi.ac.uk/efo/EFO_1001218 | http://purl.obolibrary.org/obo/MONDO_0020289 |
cardiac valvular dysplasia, X-linked | http://purl.obolibrary.org/obo/MONDO_0010753 | http://purl.obolibrary.org/obo/MONDO_0020289 |
Ebstein anomaly | http://www.ebi.ac.uk/efo/EFO_0007244 | http://purl.obolibrary.org/obo/MONDO_0020289 |
atrioventricular septal defect | http://purl.obolibrary.org/obo/MONDO_0020290 | http://purl.obolibrary.org/obo/MONDO_0020288 |
atrioventricular septal defect 4 | http://purl.obolibrary.org/obo/MONDO_0013747 | http://purl.obolibrary.org/obo/MONDO_0020290 |
congenital mitral malformation | http://www.ebi.ac.uk/efo/EFO_0009539 | http://purl.obolibrary.org/obo/MONDO_0020288 |
congenital mitral valve insufficiency and/or stenosis | http://purl.obolibrary.org/obo/MONDO_0019817 | http://www.ebi.ac.uk/efo/EFO_0009539 |
shone complex | http://purl.obolibrary.org/obo/MONDO_0020404 | http://purl.obolibrary.org/obo/MONDO_0019817 |
congenital mitral stenosis | http://purl.obolibrary.org/obo/MONDO_0020398 | http://purl.obolibrary.org/obo/MONDO_0019817 |
atrial defect and interatrial communication | http://purl.obolibrary.org/obo/MONDO_0020294 | http://www.ebi.ac.uk/efo/EFO_0005269 |
familial idiopathic dilatation of the right atrium | http://purl.obolibrary.org/obo/MONDO_0015666 | http://purl.obolibrary.org/obo/MONDO_0020294 |
atrial heart septal defect | http://www.ebi.ac.uk/efo/EFO_1000825 | http://purl.obolibrary.org/obo/MONDO_0020294 |
Lutembacher's syndrome | http://www.ebi.ac.uk/efo/EFO_1001024 | http://www.ebi.ac.uk/efo/EFO_1000825 |
atrial septal defect 1 | http://purl.obolibrary.org/obo/MONDO_0007172 | http://www.ebi.ac.uk/efo/EFO_1000825 |
Atrial septal defect, sinus venosus type | http://www.orpha.net/ORDO/Orphanet_99105 | http://purl.obolibrary.org/obo/MONDO_0007172 |
Atrial septal defect, ostium primum type | http://www.orpha.net/ORDO/Orphanet_99106 | http://purl.obolibrary.org/obo/MONDO_0007172 |
Atrial septal defect, ostium secundum type | http://www.orpha.net/ORDO/Orphanet_99103 | http://purl.obolibrary.org/obo/MONDO_0007172 |
Atrial septal defect, coronary sinus type | http://www.orpha.net/ORDO/Orphanet_99104 | http://purl.obolibrary.org/obo/MONDO_0007172 |
atrial septal defect 7 | http://purl.obolibrary.org/obo/MONDO_0007173 | http://www.ebi.ac.uk/efo/EFO_1000825 |
atrial septal defect, coronary sinus type | http://purl.obolibrary.org/obo/MONDO_0020435 | http://www.ebi.ac.uk/efo/EFO_1000825 |
atrial septal defect, sinus venosus type | http://purl.obolibrary.org/obo/MONDO_0020436 | http://www.ebi.ac.uk/efo/EFO_1000825 |
atrial septal defect, ostium primum type | http://purl.obolibrary.org/obo/MONDO_0020437 | http://www.ebi.ac.uk/efo/EFO_1000825 |
atrial septal defect, ostium secundum type | http://purl.obolibrary.org/obo/MONDO_0020434 | http://www.ebi.ac.uk/efo/EFO_1000825 |
congenital Gerbode defect | http://purl.obolibrary.org/obo/MONDO_0020428 | http://www.ebi.ac.uk/efo/EFO_0005269 |
univentricular cardiopathy | http://purl.obolibrary.org/obo/MONDO_0019820 | http://www.ebi.ac.uk/efo/EFO_0005269 |
hypoplastic left heart syndrome | http://purl.obolibrary.org/obo/MONDO_0004933 | http://purl.obolibrary.org/obo/MONDO_0019820 |
congenital left-sided heart lesions | http://www.ebi.ac.uk/efo/EFO_0005938 | http://www.ebi.ac.uk/efo/EFO_0005269 |
congenital anomaly of ventricular septum | http://purl.obolibrary.org/obo/MONDO_0018771 | http://www.ebi.ac.uk/efo/EFO_0005269 |
interventricular septum aneurysm | http://purl.obolibrary.org/obo/MONDO_0007112 | http://purl.obolibrary.org/obo/MONDO_0018771 |
Laubry-Pezzi syndrome | http://purl.obolibrary.org/obo/MONDO_0020427 | http://purl.obolibrary.org/obo/MONDO_0018771 |
congenital right-sided heart lesions | http://www.ebi.ac.uk/efo/EFO_0600032 | http://www.ebi.ac.uk/efo/EFO_0005269 |
congenital heart defects, multiple types | http://purl.obolibrary.org/obo/MONDO_0000119 | http://www.ebi.ac.uk/efo/EFO_0005207 |
congenital heart defects, multiple types, 5 | http://purl.obolibrary.org/obo/MONDO_0060663 | http://purl.obolibrary.org/obo/MONDO_0000119 |
left ventricular noncompaction | http://purl.obolibrary.org/obo/MONDO_0018901 | http://www.ebi.ac.uk/efo/EFO_0005207 |
heart septal defect | http://purl.obolibrary.org/obo/MONDO_0002078 | http://www.ebi.ac.uk/efo/EFO_0005207 |
ventricular septal defect | http://purl.obolibrary.org/obo/MONDO_0002070 | http://purl.obolibrary.org/obo/MONDO_0002078 |
ventricular septal defect 1 | http://purl.obolibrary.org/obo/MONDO_0013746 | http://purl.obolibrary.org/obo/MONDO_0002070 |
heart defects-limb shortening syndrome | http://purl.obolibrary.org/obo/MONDO_0008917 | http://www.ebi.ac.uk/efo/EFO_0005207 |
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0014714 | http://purl.obolibrary.org/obo/MONDO_0021147 |
precocious puberty | http://purl.obolibrary.org/obo/MONDO_0000088 | http://purl.obolibrary.org/obo/MONDO_0021147 |
peripheral precocious puberty | http://purl.obolibrary.org/obo/MONDO_0015791 | http://purl.obolibrary.org/obo/MONDO_0000088 |
central precocious puberty | http://purl.obolibrary.org/obo/MONDO_0019165 | http://purl.obolibrary.org/obo/MONDO_0000088 |
idiopathic central precocious puberty | http://purl.obolibrary.org/obo/MONDO_0015713 | http://purl.obolibrary.org/obo/MONDO_0019165 |
precocious puberty, central, 2 | http://purl.obolibrary.org/obo/MONDO_0014137 | http://purl.obolibrary.org/obo/MONDO_0019165 |
precocious puberty in female | http://purl.obolibrary.org/obo/MONDO_0018561 | http://purl.obolibrary.org/obo/MONDO_0000088 |
demyelinating disease | http://purl.obolibrary.org/obo/MONDO_0002562 | http://purl.obolibrary.org/obo/MONDO_0021147 |
polyradiculoneuropathy | http://www.ebi.ac.uk/efo/EFO_1001116 | http://purl.obolibrary.org/obo/MONDO_0002562 |
chronic polyradiculoneuropathy | http://purl.obolibrary.org/obo/MONDO_0016170 | http://www.ebi.ac.uk/efo/EFO_1001116 |
chronic inflammatory demyelinating polyneuropathy | http://www.ebi.ac.uk/efo/EFO_0009538 | http://www.ebi.ac.uk/efo/EFO_1001116 |
chronic inflammatory demyelinating polyradiculoneuropathy | http://www.ebi.ac.uk/efo/EFO_1000868 | http://www.ebi.ac.uk/efo/EFO_1001116 |
multiple sclerosis | http://purl.obolibrary.org/obo/MONDO_0005301 | http://purl.obolibrary.org/obo/MONDO_0002562 |
neuromyelitis optica | http://www.ebi.ac.uk/efo/EFO_0004256 | http://purl.obolibrary.org/obo/MONDO_0005301 |
AQP4-IgG-negative neuromyelitis optica | http://www.ebi.ac.uk/efo/EFO_0009585 | http://www.ebi.ac.uk/efo/EFO_0004256 |
AQP4-IgG-positive neuromyelitis optica | http://www.ebi.ac.uk/efo/EFO_0009584 | http://www.ebi.ac.uk/efo/EFO_0004256 |
relapsing-remitting multiple sclerosis | http://www.ebi.ac.uk/efo/EFO_0003929 | http://purl.obolibrary.org/obo/MONDO_0005301 |
chronic progressive multiple sclerosis | http://www.ebi.ac.uk/efo/EFO_0003840 | http://purl.obolibrary.org/obo/MONDO_0005301 |
primary progressive multiple sclerosis | http://www.ebi.ac.uk/efo/EFO_0008520 | http://www.ebi.ac.uk/efo/EFO_0003840 |
secondary progressive multiple sclerosis | http://www.ebi.ac.uk/efo/EFO_0008522 | http://www.ebi.ac.uk/efo/EFO_0003840 |
demyelinating polyneuropathy | http://purl.obolibrary.org/obo/MONDO_0003334 | http://purl.obolibrary.org/obo/MONDO_0002562 |
central pontine myelinolysis | http://www.ebi.ac.uk/efo/EFO_1000857 | http://purl.obolibrary.org/obo/MONDO_0002562 |
mulibrey nanism | http://purl.obolibrary.org/obo/MONDO_0009664 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Aicardi syndrome | http://purl.obolibrary.org/obo/MONDO_0010568 | http://purl.obolibrary.org/obo/MONDO_0021147 |
CK syndrome | http://purl.obolibrary.org/obo/MONDO_0010441 | http://purl.obolibrary.org/obo/MONDO_0021147 |
natal teeth-intestinal pseudoobstruction-patent ductus syndrome | http://purl.obolibrary.org/obo/MONDO_0009467 | http://purl.obolibrary.org/obo/MONDO_0021147 |
agenesis of the corpus callosum with peripheral neuropathy | http://purl.obolibrary.org/obo/MONDO_0000902 | http://purl.obolibrary.org/obo/MONDO_0021147 |
complex cortical dysplasia with other brain malformations | http://purl.obolibrary.org/obo/MONDO_0000904 | http://purl.obolibrary.org/obo/MONDO_0021147 |
polymicrogyria with optic nerve hypoplasia | http://purl.obolibrary.org/obo/MONDO_0013172 | http://purl.obolibrary.org/obo/MONDO_0000904 |
complex cortical dysplasia with other brain malformations 1 | http://purl.obolibrary.org/obo/MONDO_0013541 | http://purl.obolibrary.org/obo/MONDO_0000904 |
complex cortical dysplasia with other brain malformations 7 | http://purl.obolibrary.org/obo/MONDO_0012399 | http://purl.obolibrary.org/obo/MONDO_0000904 |
non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome | http://purl.obolibrary.org/obo/MONDO_0010104 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Fowler syndrome | http://purl.obolibrary.org/obo/MONDO_0009168 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Jalili syndrome | http://purl.obolibrary.org/obo/MONDO_0009007 | http://purl.obolibrary.org/obo/MONDO_0021147 |
bone development disease | http://www.ebi.ac.uk/efo/EFO_0005541 | http://purl.obolibrary.org/obo/MONDO_0021147 |
osteochondrodysplasia | http://www.ebi.ac.uk/efo/EFO_0005571 | http://www.ebi.ac.uk/efo/EFO_0005541 |
Kashin-Beck disease | http://www.ebi.ac.uk/efo/EFO_0006511 | http://www.ebi.ac.uk/efo/EFO_0005571 |
pseudoachondroplasia | http://purl.obolibrary.org/obo/MONDO_0008322 | http://www.ebi.ac.uk/efo/EFO_0005571 |
acrocapitofemoral dysplasia | http://purl.obolibrary.org/obo/MONDO_0011907 | http://www.ebi.ac.uk/efo/EFO_0005571 |
brachyolmia | http://purl.obolibrary.org/obo/MONDO_0015262 | http://www.ebi.ac.uk/efo/EFO_0005571 |
brachyolmia, Maroteaux type | http://purl.obolibrary.org/obo/MONDO_0013360 | http://purl.obolibrary.org/obo/MONDO_0015262 |
autosomal dominant brachyolmia | http://purl.obolibrary.org/obo/MONDO_0007232 | http://purl.obolibrary.org/obo/MONDO_0015262 |
autosomal recessive brachyolmia | http://purl.obolibrary.org/obo/MONDO_0018662 | http://purl.obolibrary.org/obo/MONDO_0015262 |
brachyolmia type 1, toledo type | http://purl.obolibrary.org/obo/MONDO_0010074 | http://purl.obolibrary.org/obo/MONDO_0018662 |
brachyolmia type 1, Hobaek type | http://purl.obolibrary.org/obo/MONDO_0010070 | http://purl.obolibrary.org/obo/MONDO_0018662 |
Acheiropodia | http://www.orpha.net/ORDO/Orphanet_931 | http://www.ebi.ac.uk/efo/EFO_0005571 |
Adactyly of foot, unilateral | http://www.orpha.net/ORDO/Orphanet_295116 | http://www.orpha.net/ORDO/Orphanet_931 |
Adactyly of foot, bilateral | http://www.orpha.net/ORDO/Orphanet_295118 | http://www.orpha.net/ORDO/Orphanet_931 |
Desbuquois dysplasia | http://purl.obolibrary.org/obo/MONDO_0015426 | http://www.ebi.ac.uk/efo/EFO_0005571 |
campomelic dysplasia | http://purl.obolibrary.org/obo/MONDO_0007251 | http://www.ebi.ac.uk/efo/EFO_0005571 |
mesomelia-synostoses syndrome | http://purl.obolibrary.org/obo/MONDO_0010881 | http://www.ebi.ac.uk/efo/EFO_0005571 |
Boomerang dysplasia | http://purl.obolibrary.org/obo/MONDO_0007208 | http://www.ebi.ac.uk/efo/EFO_0005571 |
cleidocranial dysplasia | http://purl.obolibrary.org/obo/MONDO_0007340 | http://www.ebi.ac.uk/efo/EFO_0005571 |
pycnodysostosis | http://purl.obolibrary.org/obo/MONDO_0009940 | http://www.ebi.ac.uk/efo/EFO_0005571 |
Pyle disease | http://purl.obolibrary.org/obo/MONDO_0009943 | http://www.ebi.ac.uk/efo/EFO_0005571 |
Leri-Weill dyschondrosteosis | http://purl.obolibrary.org/obo/MONDO_0007481 | http://www.ebi.ac.uk/efo/EFO_0005571 |
Madelung deformity | http://purl.obolibrary.org/obo/MONDO_0018154 | http://purl.obolibrary.org/obo/MONDO_0007481 |
Madelung deformity, bilateral | http://purl.obolibrary.org/obo/MONDO_0017557 | http://purl.obolibrary.org/obo/MONDO_0018154 |
Madelung deformity, unilateral | http://purl.obolibrary.org/obo/MONDO_0017556 | http://purl.obolibrary.org/obo/MONDO_0018154 |
thanatophoric dysplasia | http://purl.obolibrary.org/obo/MONDO_0017042 | http://www.ebi.ac.uk/efo/EFO_0005571 |
thanatophoric dysplasia type 1 | http://purl.obolibrary.org/obo/MONDO_0008546 | http://purl.obolibrary.org/obo/MONDO_0017042 |
thanatophoric dysplasia type 2 | http://purl.obolibrary.org/obo/MONDO_0008547 | http://purl.obolibrary.org/obo/MONDO_0017042 |
acromesomelic dysplasia | http://purl.obolibrary.org/obo/MONDO_0019696 | http://www.ebi.ac.uk/efo/EFO_0005571 |
acromesomelic dysplasia 1, Maroteaux type | http://purl.obolibrary.org/obo/MONDO_0011275 | http://purl.obolibrary.org/obo/MONDO_0019696 |
Osebold-Remondini syndrome | http://purl.obolibrary.org/obo/MONDO_0007219 | http://purl.obolibrary.org/obo/MONDO_0019696 |
acromesomelic dysplasia 2B | http://purl.obolibrary.org/obo/MONDO_0009231 | http://purl.obolibrary.org/obo/MONDO_0019696 |
acromesomelic dysplasia 3 | http://purl.obolibrary.org/obo/MONDO_0012274 | http://purl.obolibrary.org/obo/MONDO_0019696 |
acromesomelic dysplasia 2C, Hunter-Thompson type | http://purl.obolibrary.org/obo/MONDO_0008717 | http://purl.obolibrary.org/obo/MONDO_0019696 |
acromesomelic dysplasia 2A | http://purl.obolibrary.org/obo/MONDO_0008703 | http://purl.obolibrary.org/obo/MONDO_0019696 |
achondrogenesis | http://purl.obolibrary.org/obo/MONDO_0019648 | http://www.ebi.ac.uk/efo/EFO_0005571 |
achondrogenesis type IB | http://purl.obolibrary.org/obo/MONDO_0010966 | http://purl.obolibrary.org/obo/MONDO_0019648 |
hypochondrogenesis | http://purl.obolibrary.org/obo/MONDO_0019669 | http://purl.obolibrary.org/obo/MONDO_0019648 |
achondrogenesis type IA | http://purl.obolibrary.org/obo/MONDO_0008701 | http://purl.obolibrary.org/obo/MONDO_0019648 |
achondrogenesis type II | http://purl.obolibrary.org/obo/MONDO_0008702 | http://purl.obolibrary.org/obo/MONDO_0019648 |
Blount disease | http://purl.obolibrary.org/obo/MONDO_0017194 | http://www.ebi.ac.uk/efo/EFO_0005571 |
hypochondroplasia | http://purl.obolibrary.org/obo/MONDO_0007793 | http://www.ebi.ac.uk/efo/EFO_0005571 |
neonatal osteosclerotic dysplasia | http://purl.obolibrary.org/obo/MONDO_0019702 | http://www.ebi.ac.uk/efo/EFO_0005571 |
desmosterolosis | http://purl.obolibrary.org/obo/MONDO_0011217 | http://purl.obolibrary.org/obo/MONDO_0019702 |
Caffey disease | http://purl.obolibrary.org/obo/MONDO_0007244 | http://purl.obolibrary.org/obo/MONDO_0019702 |
lethal osteosclerotic bone dysplasia | http://purl.obolibrary.org/obo/MONDO_0009821 | http://purl.obolibrary.org/obo/MONDO_0019702 |
chondrodysplasia Blomstrand type | http://purl.obolibrary.org/obo/MONDO_0008970 | http://purl.obolibrary.org/obo/MONDO_0019702 |
diastrophic dysplasia | http://purl.obolibrary.org/obo/MONDO_0009107 | http://www.ebi.ac.uk/efo/EFO_0005571 |
schneckenbecken dysplasia | http://purl.obolibrary.org/obo/MONDO_0010013 | http://www.ebi.ac.uk/efo/EFO_0005571 |
hypertrichotic osteochondrodysplasia Cantu type | http://purl.obolibrary.org/obo/MONDO_0009406 | http://www.ebi.ac.uk/efo/EFO_0005571 |
achondroplasia | http://purl.obolibrary.org/obo/MONDO_0007037 | http://www.ebi.ac.uk/efo/EFO_0005571 |
osteogenesis imperfecta | http://purl.obolibrary.org/obo/MONDO_0019019 | http://www.ebi.ac.uk/efo/EFO_0005571 |
osteogenesis imperfecta type 1 | http://purl.obolibrary.org/obo/MONDO_0008146 | http://purl.obolibrary.org/obo/MONDO_0019019 |
osteogenesis imperfecta type 4 | http://purl.obolibrary.org/obo/MONDO_0008148 | http://purl.obolibrary.org/obo/MONDO_0019019 |
osteogenesis imperfecta type 2 | http://purl.obolibrary.org/obo/MONDO_0008147 | http://purl.obolibrary.org/obo/MONDO_0019019 |
high bone mass osteogenesis imperfecta | http://purl.obolibrary.org/obo/MONDO_0017791 | http://purl.obolibrary.org/obo/MONDO_0019019 |
osteogenesis imperfecta type 3 | http://purl.obolibrary.org/obo/MONDO_0009804 | http://purl.obolibrary.org/obo/MONDO_0019019 |
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0017196 | http://purl.obolibrary.org/obo/MONDO_0019019 |
osteogenesis imperfecta type 5 | http://purl.obolibrary.org/obo/MONDO_0012591 | http://purl.obolibrary.org/obo/MONDO_0019019 |
atelosteogenesis | http://purl.obolibrary.org/obo/MONDO_0000389 | http://www.ebi.ac.uk/efo/EFO_0005571 |
fibrochondrogenesis | http://purl.obolibrary.org/obo/MONDO_0016068 | http://www.ebi.ac.uk/efo/EFO_0005571 |
multiple epiphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0016648 | http://www.ebi.ac.uk/efo/EFO_0005571 |
multiple epiphyseal dysplasia, Lowry type | http://purl.obolibrary.org/obo/MONDO_0011109 | http://purl.obolibrary.org/obo/MONDO_0016648 |
multiple epiphyseal dysplasia, Al-Gazali type | http://purl.obolibrary.org/obo/MONDO_0011778 | http://purl.obolibrary.org/obo/MONDO_0016648 |
multiple epiphyseal dysplasia type 5 | http://purl.obolibrary.org/obo/MONDO_0011765 | http://purl.obolibrary.org/obo/MONDO_0016648 |
multiple epiphyseal dysplasia due to collagen 9 anomaly | http://purl.obolibrary.org/obo/MONDO_0015627 | http://purl.obolibrary.org/obo/MONDO_0016648 |
multiple epiphyseal dysplasia type 1 | http://purl.obolibrary.org/obo/MONDO_0007561 | http://purl.obolibrary.org/obo/MONDO_0016648 |
multiple epiphyseal dysplasia, Beighton type | http://purl.obolibrary.org/obo/MONDO_0007562 | http://purl.obolibrary.org/obo/MONDO_0016648 |
multiple epiphyseal dysplasia type 4 | http://purl.obolibrary.org/obo/MONDO_0009189 | http://purl.obolibrary.org/obo/MONDO_0016648 |
multiple epiphyseal dysplasia, with severe proximal femoral dysplasia | http://purl.obolibrary.org/obo/MONDO_0012253 | http://purl.obolibrary.org/obo/MONDO_0016648 |
multiple epiphyseal dysplasia, with miniepiphyses | http://purl.obolibrary.org/obo/MONDO_0012254 | http://purl.obolibrary.org/obo/MONDO_0016648 |
spondyloepiphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0016761 | http://www.ebi.ac.uk/efo/EFO_0005571 |
spondyloepimetaphyseal dysplasia, Missouri type | http://purl.obolibrary.org/obo/MONDO_0011198 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia-abnormal dentition syndrome | http://purl.obolibrary.org/obo/MONDO_0011124 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability | http://purl.obolibrary.org/obo/MONDO_0011261 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, Shohat type | http://purl.obolibrary.org/obo/MONDO_0011252 | http://purl.obolibrary.org/obo/MONDO_0016761 |
mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis | http://purl.obolibrary.org/obo/MONDO_0011496 | http://purl.obolibrary.org/obo/MONDO_0016761 |
anauxetic dysplasia | http://purl.obolibrary.org/obo/MONDO_0011773 | http://purl.obolibrary.org/obo/MONDO_0016761 |
anauxetic dysplasia 3 | http://purl.obolibrary.org/obo/MONDO_0030019 | http://purl.obolibrary.org/obo/MONDO_0011773 |
otospondylomegaepiphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0008975 | http://purl.obolibrary.org/obo/MONDO_0016761 |
otospondylomegaepiphyseal dysplasia, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0044206 | http://purl.obolibrary.org/obo/MONDO_0008975 |
progressive pseudorheumatoid arthropathy of childhood | http://purl.obolibrary.org/obo/MONDO_0008827 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, Isidor type | http://purl.obolibrary.org/obo/MONDO_0018254 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia-hypotrichosis syndrome | http://purl.obolibrary.org/obo/MONDO_0008469 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepiphyseal dysplasia, MacDermot type | http://purl.obolibrary.org/obo/MONDO_0008472 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepiphyseal dysplasia congenita | http://purl.obolibrary.org/obo/MONDO_0008471 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, Strudwick type | http://purl.obolibrary.org/obo/MONDO_0008476 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, Maroteaux type | http://purl.obolibrary.org/obo/MONDO_0008473 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Czech dysplasia, metatarsal type | http://purl.obolibrary.org/obo/MONDO_0012206 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepiphyseal dysplasia, Stanescu type | http://purl.obolibrary.org/obo/MONDO_0014701 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Roifman syndrome | http://purl.obolibrary.org/obo/MONDO_0014722 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, matrilin-3 type | http://purl.obolibrary.org/obo/MONDO_0012108 | http://purl.obolibrary.org/obo/MONDO_0016761 |
even-plus syndrome | http://purl.obolibrary.org/obo/MONDO_0014801 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepiphyseal dysplasia, Kimberley type | http://purl.obolibrary.org/obo/MONDO_0012019 | http://purl.obolibrary.org/obo/MONDO_0016761 |
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0014455 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Schimke immuno-osseous dysplasia | http://purl.obolibrary.org/obo/MONDO_0009458 | http://purl.obolibrary.org/obo/MONDO_0016761 |
X-linked spondyloepimetaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0010248 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, Bieganski type | http://purl.obolibrary.org/obo/MONDO_0010275 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Dyggve-Melchior-Clausen disease | http://purl.obolibrary.org/obo/MONDO_0009130 | http://purl.obolibrary.org/obo/MONDO_0016761 |
dyssegmental dysplasia, Rolland-Desbuquois type | http://purl.obolibrary.org/obo/MONDO_0009139 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Silverman-Handmaker type dyssegmental dysplasia | http://purl.obolibrary.org/obo/MONDO_0009140 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Wolcott-Rallison syndrome | http://purl.obolibrary.org/obo/MONDO_0009192 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | http://purl.obolibrary.org/obo/MONDO_0012873 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, sponastrime type | http://purl.obolibrary.org/obo/MONDO_0010068 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | http://purl.obolibrary.org/obo/MONDO_0010077 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, Irapa type | http://purl.obolibrary.org/obo/MONDO_0010076 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloperipheral dysplasia-short ulna syndrome | http://purl.obolibrary.org/obo/MONDO_0010078 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepiphyseal dysplasia, Cantu type | http://purl.obolibrary.org/obo/MONDO_0012716 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, Genevieve type | http://purl.obolibrary.org/obo/MONDO_0012495 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepiphyseal dysplasia with congenital joint dislocations | http://purl.obolibrary.org/obo/MONDO_0007738 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepiphyseal dysplasia tarda | http://purl.obolibrary.org/obo/MONDO_0019667 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepiphyseal dysplasia tarda, Kohn type | http://purl.obolibrary.org/obo/MONDO_0010073 | http://purl.obolibrary.org/obo/MONDO_0019667 |
spondyloepimetaphyseal dysplasia, PAPSS2 type | http://purl.obolibrary.org/obo/MONDO_0019666 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia with joint laxity | http://purl.obolibrary.org/obo/MONDO_0019675 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia with multiple dislocations | http://purl.obolibrary.org/obo/MONDO_0011335 | http://purl.obolibrary.org/obo/MONDO_0019675 |
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | http://purl.obolibrary.org/obo/MONDO_0010075 | http://purl.obolibrary.org/obo/MONDO_0019675 |
spondyloepiphyseal dysplasia, Reardon type | http://purl.obolibrary.org/obo/MONDO_0010902 | http://purl.obolibrary.org/obo/MONDO_0016761 |
CODAS syndrome | http://purl.obolibrary.org/obo/MONDO_0010879 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Schwartz-Jampel syndrome | http://purl.obolibrary.org/obo/MONDO_0009717 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Stüve-Wiedemann syndrome | http://purl.obolibrary.org/obo/MONDO_0011108 | http://purl.obolibrary.org/obo/MONDO_0009717 |
Richieri Costa-da Silva syndrome | http://purl.obolibrary.org/obo/MONDO_0009716 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Marshall syndrome | http://purl.obolibrary.org/obo/MONDO_0007949 | http://purl.obolibrary.org/obo/MONDO_0016761 |
metatropic dysplasia | http://purl.obolibrary.org/obo/MONDO_0007986 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondylo-megaepiphyseal-metaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0013228 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, Handigodu type | http://purl.obolibrary.org/obo/MONDO_0013233 | http://purl.obolibrary.org/obo/MONDO_0016761 |
brachydactylous dwarfism, Mseleni type | http://purl.obolibrary.org/obo/MONDO_0013232 | http://purl.obolibrary.org/obo/MONDO_0016761 |
Smith-McCort dysplasia | http://purl.obolibrary.org/obo/MONDO_0015799 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, aggrecan type | http://purl.obolibrary.org/obo/MONDO_0013014 | http://purl.obolibrary.org/obo/MONDO_0016761 |
spondyloepimetaphyseal dysplasia, di rocco type | http://purl.obolibrary.org/obo/MONDO_0060702 | http://purl.obolibrary.org/obo/MONDO_0016761 |
acheiropody | http://purl.obolibrary.org/obo/MONDO_0008700 | http://www.ebi.ac.uk/efo/EFO_0005571 |
microcephalic osteodysplastic primordial dwarfism type II | http://purl.obolibrary.org/obo/MONDO_0008872 | http://www.ebi.ac.uk/efo/EFO_0005571 |
brachydactyly-elbow wrist dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0008520 | http://www.ebi.ac.uk/efo/EFO_0005541 |
primary bone dysplasia | http://purl.obolibrary.org/obo/MONDO_0018230 | http://www.ebi.ac.uk/efo/EFO_0005541 |
craniosynostosis-anal anomalies-porokeratosis syndrome | http://purl.obolibrary.org/obo/MONDO_0011287 | http://purl.obolibrary.org/obo/MONDO_0018230 |
parietal foramina with cleidocranial dysplasia | http://purl.obolibrary.org/obo/MONDO_0008198 | http://purl.obolibrary.org/obo/MONDO_0018230 |
gnathodiaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0008151 | http://purl.obolibrary.org/obo/MONDO_0018230 |
bone dysplasia, Azouz type | http://purl.obolibrary.org/obo/MONDO_0015985 | http://purl.obolibrary.org/obo/MONDO_0018230 |
delayed membranous cranial ossification | http://purl.obolibrary.org/obo/MONDO_0007971 | http://purl.obolibrary.org/obo/MONDO_0018230 |
chondroectodermal dysplasia with night blindness | http://purl.obolibrary.org/obo/MONDO_0017869 | http://purl.obolibrary.org/obo/MONDO_0018230 |
cheirospondyloenchondromatosis | http://purl.obolibrary.org/obo/MONDO_0020474 | http://purl.obolibrary.org/obo/MONDO_0018230 |
carpotarsal osteochondromatosis | http://purl.obolibrary.org/obo/MONDO_0007490 | http://purl.obolibrary.org/obo/MONDO_0018230 |
dysplasia epiphysealis hemimelica | http://purl.obolibrary.org/obo/MONDO_0007489 | http://purl.obolibrary.org/obo/MONDO_0018230 |
calvarial doughnut lesions-bone fragility syndrome | http://purl.obolibrary.org/obo/MONDO_0007470 | http://purl.obolibrary.org/obo/MONDO_0018230 |
dysspondyloenchondromatosis | http://purl.obolibrary.org/obo/MONDO_0019412 | http://purl.obolibrary.org/obo/MONDO_0018230 |
autosomal recessive cutis laxa type 2 | http://purl.obolibrary.org/obo/MONDO_0019573 | http://purl.obolibrary.org/obo/MONDO_0018230 |
autosomal recessive cutis laxa type 2B | http://purl.obolibrary.org/obo/MONDO_0013051 | http://purl.obolibrary.org/obo/MONDO_0019573 |
autosomal recessive cutis laxa type 2A | http://purl.obolibrary.org/obo/MONDO_0018163 | http://purl.obolibrary.org/obo/MONDO_0019573 |
autosomal recessive cutis laxa type 2, classic type | http://purl.obolibrary.org/obo/MONDO_0009054 | http://purl.obolibrary.org/obo/MONDO_0018163 |
wrinkly skin syndrome | http://purl.obolibrary.org/obo/MONDO_0010208 | http://purl.obolibrary.org/obo/MONDO_0018163 |
Camurati-Engelmann disease | http://purl.obolibrary.org/obo/MONDO_0007542 | http://purl.obolibrary.org/obo/MONDO_0018230 |
short rib dysplasia | http://purl.obolibrary.org/obo/MONDO_0019691 | http://purl.obolibrary.org/obo/MONDO_0018230 |
short rib-polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0015461 | http://purl.obolibrary.org/obo/MONDO_0019691 |
short rib-polydactyly syndrome, Majewski type | http://purl.obolibrary.org/obo/MONDO_0019662 | http://purl.obolibrary.org/obo/MONDO_0015461 |
short-rib thoracic dysplasia 6 with or without polydactyly | http://purl.obolibrary.org/obo/MONDO_0009894 | http://purl.obolibrary.org/obo/MONDO_0019662 |
cranioectodermal dysplasia | http://purl.obolibrary.org/obo/MONDO_0009032 | http://purl.obolibrary.org/obo/MONDO_0015461 |
Jeune syndrome | http://purl.obolibrary.org/obo/MONDO_0018770 | http://purl.obolibrary.org/obo/MONDO_0015461 |
asphyxiating thoracic dystrophy 3 | http://purl.obolibrary.org/obo/MONDO_0013127 | http://purl.obolibrary.org/obo/MONDO_0018770 |
short-rib thoracic dysplasia 17 with or without polydactyly | http://purl.obolibrary.org/obo/MONDO_0054565 | http://purl.obolibrary.org/obo/MONDO_0018770 |
short-rib thoracic dysplasia 9 with or without polydactyly | http://purl.obolibrary.org/obo/MONDO_0009964 | http://purl.obolibrary.org/obo/MONDO_0018770 |
Beemer-Langer syndrome | http://purl.obolibrary.org/obo/MONDO_0010024 | http://purl.obolibrary.org/obo/MONDO_0018770 |
Ellis-van Creveld syndrome | http://purl.obolibrary.org/obo/MONDO_0009162 | http://purl.obolibrary.org/obo/MONDO_0018770 |
short-rib thoracic dysplasia 10 with or without polydactyly | http://purl.obolibrary.org/obo/MONDO_0014284 | http://purl.obolibrary.org/obo/MONDO_0018770 |
short-rib thoracic dysplasia 14 with polydactyly | http://purl.obolibrary.org/obo/MONDO_0014688 | http://purl.obolibrary.org/obo/MONDO_0018770 |
Joubert syndrome with Jeune asphyxiating thoracic dystrophy | http://purl.obolibrary.org/obo/MONDO_0018342 | http://purl.obolibrary.org/obo/MONDO_0015461 |
orofaciodigital syndrome IV | http://purl.obolibrary.org/obo/MONDO_0009794 | http://purl.obolibrary.org/obo/MONDO_0019691 |
thoracomelic dysplasia | http://purl.obolibrary.org/obo/MONDO_0010116 | http://purl.obolibrary.org/obo/MONDO_0019691 |
thoracolaryngopelvic dysplasia | http://purl.obolibrary.org/obo/MONDO_0008551 | http://purl.obolibrary.org/obo/MONDO_0019691 |
multiple epiphyseal dysplasia and pseudoachondroplasia | http://purl.obolibrary.org/obo/MONDO_0019692 | http://purl.obolibrary.org/obo/MONDO_0018230 |
dysplasia of head of femur, Meyer type | http://purl.obolibrary.org/obo/MONDO_0015678 | http://purl.obolibrary.org/obo/MONDO_0019692 |
Eiken syndrome | http://purl.obolibrary.org/obo/MONDO_0010803 | http://purl.obolibrary.org/obo/MONDO_0019692 |
hip dysplasia, Beukes type | http://purl.obolibrary.org/obo/MONDO_0007726 | http://purl.obolibrary.org/obo/MONDO_0019692 |
Lowry-Wood syndrome | http://purl.obolibrary.org/obo/MONDO_0009191 | http://purl.obolibrary.org/obo/MONDO_0019692 |
acromelic dysplasia | http://purl.obolibrary.org/obo/MONDO_0019695 | http://purl.obolibrary.org/obo/MONDO_0018230 |
peripheral dysostosis | http://purl.obolibrary.org/obo/MONDO_0008227 | http://purl.obolibrary.org/obo/MONDO_0019695 |
trichorhinophalangeal syndrome | http://purl.obolibrary.org/obo/MONDO_0017951 | http://purl.obolibrary.org/obo/MONDO_0019695 |
trichorhinophalangeal syndrome type I or III | http://purl.obolibrary.org/obo/MONDO_0019176 | http://purl.obolibrary.org/obo/MONDO_0017951 |
trichorhinophalangeal syndrome type I | http://purl.obolibrary.org/obo/MONDO_0008596 | http://purl.obolibrary.org/obo/MONDO_0019176 |
trichorhinophalangeal syndrome, type III | http://purl.obolibrary.org/obo/MONDO_0008597 | http://purl.obolibrary.org/obo/MONDO_0019176 |
trichorhinophalangeal syndrome type II | http://purl.obolibrary.org/obo/MONDO_0007874 | http://purl.obolibrary.org/obo/MONDO_0017951 |
angel-shaped phalango-epiphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0007114 | http://purl.obolibrary.org/obo/MONDO_0019695 |
pseudohypoparathyroidism type 1A | http://purl.obolibrary.org/obo/MONDO_0007078 | http://purl.obolibrary.org/obo/MONDO_0019695 |
acromicric dysplasia | http://purl.obolibrary.org/obo/MONDO_0007055 | http://purl.obolibrary.org/obo/MONDO_0019695 |
craniofacial conodysplasia | http://purl.obolibrary.org/obo/MONDO_0019406 | http://purl.obolibrary.org/obo/MONDO_0019695 |
Myhre syndrome | http://purl.obolibrary.org/obo/MONDO_0007688 | http://purl.obolibrary.org/obo/MONDO_0019695 |
acrodysostosis | http://purl.obolibrary.org/obo/MONDO_0019797 | http://purl.obolibrary.org/obo/MONDO_0019695 |
pseudopseudohypoparathyroidism | http://purl.obolibrary.org/obo/MONDO_0012912 | http://purl.obolibrary.org/obo/MONDO_0019695 |
pseudohypoparathyroidism type 1C | http://purl.obolibrary.org/obo/MONDO_0012911 | http://purl.obolibrary.org/obo/MONDO_0019695 |
terminal osseous dysplasia-pigmentary defects syndrome | http://purl.obolibrary.org/obo/MONDO_0010279 | http://purl.obolibrary.org/obo/MONDO_0019695 |
intellectual disability-balding-patella luxation-acromicria syndrome | http://purl.obolibrary.org/obo/MONDO_0010505 | http://purl.obolibrary.org/obo/MONDO_0019695 |
geleophysic dysplasia | http://purl.obolibrary.org/obo/MONDO_0000127 | http://purl.obolibrary.org/obo/MONDO_0019695 |
short stature-brachydactyly-obesity-global developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0014944 | http://purl.obolibrary.org/obo/MONDO_0019695 |
Weill-Marchesani syndrome | http://purl.obolibrary.org/obo/MONDO_0018096 | http://purl.obolibrary.org/obo/MONDO_0019695 |
Weill-Marchesani 4 syndrome, recessive | http://purl.obolibrary.org/obo/MONDO_0013176 | http://purl.obolibrary.org/obo/MONDO_0018096 |
Weill-Marchesani syndrome 2, dominant | http://purl.obolibrary.org/obo/MONDO_0012013 | http://purl.obolibrary.org/obo/MONDO_0018096 |
multiple metaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0019693 | http://purl.obolibrary.org/obo/MONDO_0018230 |
Schmid metaphyseal chondrodysplasia | http://purl.obolibrary.org/obo/MONDO_0007983 | http://purl.obolibrary.org/obo/MONDO_0019693 |
metaphyseal chondrodysplasia, Jansen type | http://purl.obolibrary.org/obo/MONDO_0007982 | http://purl.obolibrary.org/obo/MONDO_0019693 |
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | http://purl.obolibrary.org/obo/MONDO_0007984 | http://purl.obolibrary.org/obo/MONDO_0019693 |
metaphyseal anadysplasia | http://purl.obolibrary.org/obo/MONDO_0015177 | http://purl.obolibrary.org/obo/MONDO_0019693 |
cartilage-hair hypoplasia | http://purl.obolibrary.org/obo/MONDO_0009595 | http://purl.obolibrary.org/obo/MONDO_0019693 |
metaphyseal dysplasia without hypotrichosis | http://purl.obolibrary.org/obo/MONDO_0009601 | http://purl.obolibrary.org/obo/MONDO_0009595 |
metaphyseal chondrodysplasia, Spahr type | http://purl.obolibrary.org/obo/MONDO_0009597 | http://purl.obolibrary.org/obo/MONDO_0019693 |
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | http://purl.obolibrary.org/obo/MONDO_0009598 | http://purl.obolibrary.org/obo/MONDO_0019693 |
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0009599 | http://purl.obolibrary.org/obo/MONDO_0019693 |
metaphyseal acroscyphodysplasia | http://purl.obolibrary.org/obo/MONDO_0009592 | http://purl.obolibrary.org/obo/MONDO_0019693 |
metaphyseal chondrodysplasia, Kaitila type | http://purl.obolibrary.org/obo/MONDO_0009594 | http://purl.obolibrary.org/obo/MONDO_0019693 |
ulna metaphyseal dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0008619 | http://purl.obolibrary.org/obo/MONDO_0019693 |
spondylodysplastic dysplasia | http://purl.obolibrary.org/obo/MONDO_0019694 | http://purl.obolibrary.org/obo/MONDO_0018230 |
diaphanospondylodysostosis | http://purl.obolibrary.org/obo/MONDO_0011946 | http://purl.obolibrary.org/obo/MONDO_0019694 |
autosomal recessive spondylometaphyseal dysplasia, Megarbane type | http://purl.obolibrary.org/obo/MONDO_0013223 | http://purl.obolibrary.org/obo/MONDO_0019694 |
opsismodysplasia | http://purl.obolibrary.org/obo/MONDO_0009785 | http://purl.obolibrary.org/obo/MONDO_0019694 |
spondylocamptodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0010801 | http://purl.obolibrary.org/obo/MONDO_0019694 |
platyspondylic dysplasia, Torrance type | http://purl.obolibrary.org/obo/MONDO_0007895 | http://purl.obolibrary.org/obo/MONDO_0019694 |
spondylocarpotarsal synostosis syndrome | http://purl.obolibrary.org/obo/MONDO_0010094 | http://purl.obolibrary.org/obo/MONDO_0019694 |
skeletal dysplasia-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0010668 | http://purl.obolibrary.org/obo/MONDO_0019694 |
spondylometaphyseal dysplasia, Sedaghatian type | http://purl.obolibrary.org/obo/MONDO_0009593 | http://purl.obolibrary.org/obo/MONDO_0019694 |
slender bone dysplasia | http://purl.obolibrary.org/obo/MONDO_0019699 | http://purl.obolibrary.org/obo/MONDO_0018230 |
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | http://purl.obolibrary.org/obo/MONDO_0013894 | http://purl.obolibrary.org/obo/MONDO_0019699 |
osteocraniostenosis | http://purl.obolibrary.org/obo/MONDO_0011215 | http://purl.obolibrary.org/obo/MONDO_0019699 |
microcephalic primordial dwarfism | http://purl.obolibrary.org/obo/MONDO_0017950 | http://purl.obolibrary.org/obo/MONDO_0019699 |
Seckel syndrome | http://purl.obolibrary.org/obo/MONDO_0019342 | http://purl.obolibrary.org/obo/MONDO_0017950 |
Seckel syndrome 7 | http://purl.obolibrary.org/obo/MONDO_0013922 | http://purl.obolibrary.org/obo/MONDO_0019342 |
Seckel syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0008869 | http://purl.obolibrary.org/obo/MONDO_0019342 |
microcephalic osteodysplastic dysplasia, Saul-Wilson type | http://purl.obolibrary.org/obo/MONDO_0019407 | http://purl.obolibrary.org/obo/MONDO_0017950 |
microcephalic primordial dwarfism, Toriello type | http://purl.obolibrary.org/obo/MONDO_0009616 | http://purl.obolibrary.org/obo/MONDO_0017950 |
Meier-Gorlin syndrome | http://purl.obolibrary.org/obo/MONDO_0016817 | http://purl.obolibrary.org/obo/MONDO_0017950 |
microcephalic osteodysplastic primordial dwarfism types I and III | http://purl.obolibrary.org/obo/MONDO_0016994 | http://purl.obolibrary.org/obo/MONDO_0017950 |
microcephalic primordial dwarfism due to RTTN deficiency | http://purl.obolibrary.org/obo/MONDO_0018764 | http://purl.obolibrary.org/obo/MONDO_0017950 |
bilateral generalized polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0013907 | http://purl.obolibrary.org/obo/MONDO_0018764 |
microcephalic primordial dwarfism due to ZNF335 deficiency | http://purl.obolibrary.org/obo/MONDO_0014043 | http://purl.obolibrary.org/obo/MONDO_0017950 |
microcephalic primordial dwarfism, Alazami type | http://purl.obolibrary.org/obo/MONDO_0014031 | http://purl.obolibrary.org/obo/MONDO_0017950 |
bird headed-dwarfism, Montreal type | http://purl.obolibrary.org/obo/MONDO_0008870 | http://purl.obolibrary.org/obo/MONDO_0017950 |
thin ribs-tubular bones-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0015462 | http://purl.obolibrary.org/obo/MONDO_0019699 |
3-M syndrome | http://purl.obolibrary.org/obo/MONDO_0007477 | http://purl.obolibrary.org/obo/MONDO_0019699 |
Kenny-Caffey syndrome | http://purl.obolibrary.org/obo/MONDO_0016516 | http://purl.obolibrary.org/obo/MONDO_0019699 |
autosomal dominant Kenny-Caffey syndrome | http://purl.obolibrary.org/obo/MONDO_0007478 | http://purl.obolibrary.org/obo/MONDO_0016516 |
Autosomal recessive Kenny-Caffey syndrome | http://www.orpha.net/ORDO/Orphanet_93324 | http://purl.obolibrary.org/obo/MONDO_0016516 |
Autosomal dominant Kenny-Caffey syndrome | http://www.orpha.net/ORDO/Orphanet_93325 | http://purl.obolibrary.org/obo/MONDO_0016516 |
autosomal recessive Kenny-Caffey syndrome | http://purl.obolibrary.org/obo/MONDO_0009486 | http://purl.obolibrary.org/obo/MONDO_0016516 |
multiple congenital anomalies-hypotonia-seizures syndrome 3 | http://purl.obolibrary.org/obo/MONDO_0014165 | http://purl.obolibrary.org/obo/MONDO_0019699 |
mesomelic and rhizo-mesomelic dysplasia | http://purl.obolibrary.org/obo/MONDO_0019697 | http://purl.obolibrary.org/obo/MONDO_0018230 |
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0011227 | http://purl.obolibrary.org/obo/MONDO_0019697 |
mesomelic dysplasia, Savarirayan type | http://purl.obolibrary.org/obo/MONDO_0011530 | http://purl.obolibrary.org/obo/MONDO_0019697 |
mesomelic dwarfism, Nievergelt type | http://purl.obolibrary.org/obo/MONDO_0008098 | http://purl.obolibrary.org/obo/MONDO_0019697 |
rhizomelic dysplasia, Patterson-Lowry type | http://purl.obolibrary.org/obo/MONDO_0011079 | http://purl.obolibrary.org/obo/MONDO_0019697 |
Robinow syndrome | http://purl.obolibrary.org/obo/MONDO_0019978 | http://purl.obolibrary.org/obo/MONDO_0019697 |
autosomal recessive Robinow syndrome | http://purl.obolibrary.org/obo/MONDO_0009999 | http://purl.obolibrary.org/obo/MONDO_0019978 |
Autosomal dominant Robinow syndrome | http://www.orpha.net/ORDO/Orphanet_3107 | http://purl.obolibrary.org/obo/MONDO_0019978 |
autosomal dominant Robinow syndrome | http://purl.obolibrary.org/obo/MONDO_0008389 | http://purl.obolibrary.org/obo/MONDO_0019978 |
Autosomal recessive Robinow syndrome | http://www.orpha.net/ORDO/Orphanet_1507 | http://purl.obolibrary.org/obo/MONDO_0019978 |
mesomelic dysplasia, Kantaputra type | http://purl.obolibrary.org/obo/MONDO_0007977 | http://purl.obolibrary.org/obo/MONDO_0019697 |
cleidorhizomelic syndrome | http://purl.obolibrary.org/obo/MONDO_0007341 | http://purl.obolibrary.org/obo/MONDO_0019697 |
rhizomelic syndrome, Urbach type | http://purl.obolibrary.org/obo/MONDO_0009996 | http://purl.obolibrary.org/obo/MONDO_0019697 |
dyschondrosteosis-nephritis syndrome | http://purl.obolibrary.org/obo/MONDO_0007482 | http://purl.obolibrary.org/obo/MONDO_0019697 |
omodysplasia | http://purl.obolibrary.org/obo/MONDO_0017136 | http://purl.obolibrary.org/obo/MONDO_0019697 |
autosomal dominant omodysplasia | http://purl.obolibrary.org/obo/MONDO_0008123 | http://purl.obolibrary.org/obo/MONDO_0017136 |
autosomal recessive omodysplasia | http://purl.obolibrary.org/obo/MONDO_0009779 | http://purl.obolibrary.org/obo/MONDO_0017136 |
SHOX-related short stature | http://purl.obolibrary.org/obo/MONDO_0010367 | http://purl.obolibrary.org/obo/MONDO_0019697 |
Langer mesomelic dysplasia | http://purl.obolibrary.org/obo/MONDO_0009588 | http://purl.obolibrary.org/obo/MONDO_0019697 |
mesomelic dwarfism-cleft palate-camptodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009589 | http://purl.obolibrary.org/obo/MONDO_0019697 |
upper limb mesomelic dysplasia | http://purl.obolibrary.org/obo/MONDO_0008620 | http://purl.obolibrary.org/obo/MONDO_0019697 |
mesomelic dwarfism, Reinhardt-Pfeiffer type | http://purl.obolibrary.org/obo/MONDO_0008618 | http://purl.obolibrary.org/obo/MONDO_0019697 |
bent bone dysplasia | http://purl.obolibrary.org/obo/MONDO_0019698 | http://purl.obolibrary.org/obo/MONDO_0018230 |
FGFR2-related bent bone dysplasia | http://purl.obolibrary.org/obo/MONDO_0013815 | http://purl.obolibrary.org/obo/MONDO_0019698 |
parastremmatic dwarfism | http://purl.obolibrary.org/obo/MONDO_0008196 | http://purl.obolibrary.org/obo/MONDO_0019698 |
severe lateral tibial bowing with short stature | http://purl.obolibrary.org/obo/MONDO_0017927 | http://purl.obolibrary.org/obo/MONDO_0019698 |
Weismann-Netter syndrome | http://purl.obolibrary.org/obo/MONDO_0007209 | http://purl.obolibrary.org/obo/MONDO_0019698 |
kyphomelic dysplasia | http://purl.obolibrary.org/obo/MONDO_0008881 | http://purl.obolibrary.org/obo/MONDO_0019698 |
congenital bowing of long bones | http://purl.obolibrary.org/obo/MONDO_0008882 | http://purl.obolibrary.org/obo/MONDO_0019698 |
Bruck syndrome | http://purl.obolibrary.org/obo/MONDO_0017195 | http://purl.obolibrary.org/obo/MONDO_0018230 |
lethal chondrodysplasia | http://purl.obolibrary.org/obo/MONDO_0019718 | http://purl.obolibrary.org/obo/MONDO_0018230 |
lethal chondrodysplasia, Seller type | http://purl.obolibrary.org/obo/MONDO_0011064 | http://purl.obolibrary.org/obo/MONDO_0019718 |
lethal chondrodysplasia, Moerman type | http://purl.obolibrary.org/obo/MONDO_0015424 | http://purl.obolibrary.org/obo/MONDO_0019718 |
lethal recessive chondrodysplasia | http://purl.obolibrary.org/obo/MONDO_0015425 | http://purl.obolibrary.org/obo/MONDO_0019718 |
pyknoachondrogenesis | http://purl.obolibrary.org/obo/MONDO_0009942 | http://purl.obolibrary.org/obo/MONDO_0019718 |
lethal Kniest-like dysplasia | http://purl.obolibrary.org/obo/MONDO_0009498 | http://purl.obolibrary.org/obo/MONDO_0019718 |
bone dysplasia, lethal Holmgren type | http://purl.obolibrary.org/obo/MONDO_0008878 | http://purl.obolibrary.org/obo/MONDO_0019718 |
chondrodysplasia punctata | http://purl.obolibrary.org/obo/MONDO_0019701 | http://purl.obolibrary.org/obo/MONDO_0018230 |
non-rhizomelic chondrodysplasia punctata | http://purl.obolibrary.org/obo/MONDO_0015775 | http://purl.obolibrary.org/obo/MONDO_0019701 |
autosomal dominant chondrodysplasia punctata | http://purl.obolibrary.org/obo/MONDO_0007321 | http://purl.obolibrary.org/obo/MONDO_0015775 |
chondrodysplasia punctata, tibial-metacarpal type | http://purl.obolibrary.org/obo/MONDO_0007322 | http://purl.obolibrary.org/obo/MONDO_0007321 |
X-linked chondrodysplasia punctata | http://purl.obolibrary.org/obo/MONDO_0010556 | http://purl.obolibrary.org/obo/MONDO_0015775 |
X-linked chondrodysplasia punctata 1 | http://purl.obolibrary.org/obo/MONDO_0010555 | http://purl.obolibrary.org/obo/MONDO_0010556 |
chondrodysplasia punctata, Toriello type | http://purl.obolibrary.org/obo/MONDO_0008973 | http://purl.obolibrary.org/obo/MONDO_0015775 |
rhizomelic chondrodysplasia punctata | http://purl.obolibrary.org/obo/MONDO_0015776 | http://purl.obolibrary.org/obo/MONDO_0019701 |
rhizomelic chondrodysplasia punctata type 3 | http://purl.obolibrary.org/obo/MONDO_0010823 | http://purl.obolibrary.org/obo/MONDO_0015776 |
rhizomelic chondrodysplasia punctata type 2 | http://purl.obolibrary.org/obo/MONDO_0009112 | http://purl.obolibrary.org/obo/MONDO_0015776 |
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain | http://purl.obolibrary.org/obo/MONDO_0100265 | http://purl.obolibrary.org/obo/MONDO_0015776 |
rhizomelic chondrodysplasia punctata type 5 | http://purl.obolibrary.org/obo/MONDO_0014743 | http://purl.obolibrary.org/obo/MONDO_0100265 |
rhizomelic chondrodysplasia punctata type 1 | http://purl.obolibrary.org/obo/MONDO_0008972 | http://purl.obolibrary.org/obo/MONDO_0015776 |
dappled diaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0020473 | http://purl.obolibrary.org/obo/MONDO_0019701 |
Astley-Kendall dysplasia | http://purl.obolibrary.org/obo/MONDO_0019408 | http://purl.obolibrary.org/obo/MONDO_0019701 |
Keutel syndrome | http://purl.obolibrary.org/obo/MONDO_0009495 | http://purl.obolibrary.org/obo/MONDO_0019701 |
Greenberg dysplasia | http://purl.obolibrary.org/obo/MONDO_0008974 | http://purl.obolibrary.org/obo/MONDO_0019701 |
primary osteolysis | http://purl.obolibrary.org/obo/MONDO_0019707 | http://purl.obolibrary.org/obo/MONDO_0018230 |
pacman dysplasia | http://purl.obolibrary.org/obo/MONDO_0008175 | http://purl.obolibrary.org/obo/MONDO_0019707 |
multicentric carpo-tarsal osteolysis with or without nephropathy | http://purl.obolibrary.org/obo/MONDO_0008152 | http://purl.obolibrary.org/obo/MONDO_0019707 |
Hutchinson-Gilford progeria syndrome | http://purl.obolibrary.org/obo/MONDO_0008310 | http://purl.obolibrary.org/obo/MONDO_0019707 |
familial expansile osteolysis | http://purl.obolibrary.org/obo/MONDO_0008275 | http://purl.obolibrary.org/obo/MONDO_0019707 |
Nestor-Guillermo progeria syndrome | http://purl.obolibrary.org/obo/MONDO_0013523 | http://purl.obolibrary.org/obo/MONDO_0019707 |
acroosteolysis | http://purl.obolibrary.org/obo/MONDO_0007056 | http://purl.obolibrary.org/obo/MONDO_0019707 |
acroosteolysis dominant type | http://purl.obolibrary.org/obo/MONDO_0007057 | http://purl.obolibrary.org/obo/MONDO_0007056 |
autosomal recessive distal osteolysis syndrome | http://purl.obolibrary.org/obo/MONDO_0009810 | http://purl.obolibrary.org/obo/MONDO_0019707 |
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly | http://purl.obolibrary.org/obo/MONDO_0009092 | http://purl.obolibrary.org/obo/MONDO_0019707 |
hyaline fibromatosis syndrome | http://purl.obolibrary.org/obo/MONDO_0009229 | http://purl.obolibrary.org/obo/MONDO_0019707 |
infantile systemic hyalinosis | http://purl.obolibrary.org/obo/MONDO_0016331 | http://purl.obolibrary.org/obo/MONDO_0009229 |
talo-patello-scaphoid osteolysis | http://purl.obolibrary.org/obo/MONDO_0012330 | http://purl.obolibrary.org/obo/MONDO_0019707 |
mandibuloacral dysplasia | http://purl.obolibrary.org/obo/MONDO_0016584 | http://purl.obolibrary.org/obo/MONDO_0019707 |
mandibuloacral dysplasia with type A lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0009557 | http://purl.obolibrary.org/obo/MONDO_0016584 |
mandibuloacral dysplasia with type B lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0012074 | http://purl.obolibrary.org/obo/MONDO_0016584 |
phalangeal microgeodic syndrome | http://purl.obolibrary.org/obo/MONDO_0018128 | http://purl.obolibrary.org/obo/MONDO_0019707 |
multicentric osteolysis-nodulosis-arthropathy spectrum | http://purl.obolibrary.org/obo/MONDO_0018298 | http://purl.obolibrary.org/obo/MONDO_0019707 |
craniometadiaphyseal dysplasia, wormian bone type | http://purl.obolibrary.org/obo/MONDO_0010014 | http://purl.obolibrary.org/obo/MONDO_0018230 |
pancreatic insufficiency-anemia-hyperostosis syndrome | http://purl.obolibrary.org/obo/MONDO_0012992 | http://purl.obolibrary.org/obo/MONDO_0018230 |
Larsen-like osseous dysplasia-short stature syndrome | http://purl.obolibrary.org/obo/MONDO_0012055 | http://purl.obolibrary.org/obo/MONDO_0018230 |
skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome | http://purl.obolibrary.org/obo/MONDO_0014704 | http://purl.obolibrary.org/obo/MONDO_0018230 |
complex lethal osteochondrodysplasia | http://purl.obolibrary.org/obo/MONDO_0014821 | http://purl.obolibrary.org/obo/MONDO_0018230 |
Cole-Carpenter syndrome | http://purl.obolibrary.org/obo/MONDO_0016085 | http://purl.obolibrary.org/obo/MONDO_0018230 |
dysplastic cortical hyperostosis | http://purl.obolibrary.org/obo/MONDO_0016357 | http://purl.obolibrary.org/obo/MONDO_0018230 |
parietal foramina | http://purl.obolibrary.org/obo/MONDO_0018953 | http://purl.obolibrary.org/obo/MONDO_0018230 |
spondylometaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0016763 | http://purl.obolibrary.org/obo/MONDO_0018230 |
axial spondylometaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0011211 | http://purl.obolibrary.org/obo/MONDO_0016763 |
spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0011856 | http://purl.obolibrary.org/obo/MONDO_0016763 |
Spondyloenchondrodysplasia with immune dysregulation | http://purl.obolibrary.org/obo/MONDO_0011939 | http://purl.obolibrary.org/obo/MONDO_0016763 |
spondylometaphyseal dysplasia, Golden type | http://purl.obolibrary.org/obo/MONDO_0010738 | http://purl.obolibrary.org/obo/MONDO_0016763 |
spondylometaphyseal dysplasia, A4 type | http://purl.obolibrary.org/obo/MONDO_0012185 | http://purl.obolibrary.org/obo/MONDO_0016763 |
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0012160 | http://purl.obolibrary.org/obo/MONDO_0016763 |
regressive spondylometaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0018663 | http://purl.obolibrary.org/obo/MONDO_0016763 |
spondylometaphyseal dysplasia, Kozlowski type | http://purl.obolibrary.org/obo/MONDO_0008477 | http://purl.obolibrary.org/obo/MONDO_0016763 |
spondylometaphyseal dysplasia, Schmidt type | http://purl.obolibrary.org/obo/MONDO_0008478 | http://purl.obolibrary.org/obo/MONDO_0016763 |
spondylometaphyseal dysplasia, 'corner fracture' type | http://purl.obolibrary.org/obo/MONDO_0008479 | http://purl.obolibrary.org/obo/MONDO_0016763 |
spondylometaphyseal dysplasia, Czarny-Ratajczak type | http://purl.obolibrary.org/obo/MONDO_0018255 | http://purl.obolibrary.org/obo/MONDO_0016763 |
odontochondrodysplasia | http://purl.obolibrary.org/obo/MONDO_0031169 | http://purl.obolibrary.org/obo/MONDO_0016763 |
odontochondrodysplasia 1 | http://purl.obolibrary.org/obo/MONDO_0100325 | http://purl.obolibrary.org/obo/MONDO_0031169 |
otopalatodigital syndrome spectrum disorder | http://purl.obolibrary.org/obo/MONDO_0018233 | http://purl.obolibrary.org/obo/MONDO_0018230 |
frontometaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0015942 | http://purl.obolibrary.org/obo/MONDO_0018233 |
Frank-Ter Haar syndrome | http://purl.obolibrary.org/obo/MONDO_0009579 | http://purl.obolibrary.org/obo/MONDO_0018233 |
otopalatodigital syndrome | http://purl.obolibrary.org/obo/MONDO_0019027 | http://purl.obolibrary.org/obo/MONDO_0018233 |
Osteodysplasty, Melnick-Needles type | http://www.orpha.net/ORDO/Orphanet_2484 | http://purl.obolibrary.org/obo/MONDO_0019027 |
otopalatodigital syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0010704 | http://purl.obolibrary.org/obo/MONDO_0019027 |
otopalatodigital syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0010571 | http://purl.obolibrary.org/obo/MONDO_0019027 |
Otopalatodigital syndrome type 2 | http://www.orpha.net/ORDO/Orphanet_90652 | http://purl.obolibrary.org/obo/MONDO_0019027 |
Otopalatodigital syndrome type 1 | http://www.orpha.net/ORDO/Orphanet_90650 | http://purl.obolibrary.org/obo/MONDO_0019027 |
Frontometaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_1826 | http://purl.obolibrary.org/obo/MONDO_0019027 |
Melnick-Needles syndrome | http://purl.obolibrary.org/obo/MONDO_0010650 | http://purl.obolibrary.org/obo/MONDO_0018233 |
Yunis-Varon syndrome | http://purl.obolibrary.org/obo/MONDO_0008995 | http://purl.obolibrary.org/obo/MONDO_0018230 |
dysostosis | http://purl.obolibrary.org/obo/MONDO_0018234 | http://www.ebi.ac.uk/efo/EFO_0005541 |
split hand or/and split foot malformation | http://purl.obolibrary.org/obo/MONDO_0017423 | http://purl.obolibrary.org/obo/MONDO_0018234 |
split foot | http://purl.obolibrary.org/obo/MONDO_0017450 | http://purl.obolibrary.org/obo/MONDO_0017423 |
split foot, bilateral | http://purl.obolibrary.org/obo/MONDO_0017514 | http://purl.obolibrary.org/obo/MONDO_0017450 |
split foot, unilateral | http://purl.obolibrary.org/obo/MONDO_0017513 | http://purl.obolibrary.org/obo/MONDO_0017450 |
split hand | http://purl.obolibrary.org/obo/MONDO_0017449 | http://purl.obolibrary.org/obo/MONDO_0017423 |
split hand, unilateral | http://purl.obolibrary.org/obo/MONDO_0017511 | http://purl.obolibrary.org/obo/MONDO_0017449 |
split hand, bilateral | http://purl.obolibrary.org/obo/MONDO_0017512 | http://purl.obolibrary.org/obo/MONDO_0017449 |
split hand-foot malformation | http://purl.obolibrary.org/obo/MONDO_0016576 | http://purl.obolibrary.org/obo/MONDO_0017423 |
split hand-foot malformation 3 | http://purl.obolibrary.org/obo/MONDO_0009525 | http://purl.obolibrary.org/obo/MONDO_0016576 |
Prata-Liberal-Goncalves syndrome | http://purl.obolibrary.org/obo/MONDO_0017568 | http://purl.obolibrary.org/obo/MONDO_0018234 |
aphalangy-syndactyly-microcephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0010882 | http://purl.obolibrary.org/obo/MONDO_0018234 |
Banki syndrome | http://purl.obolibrary.org/obo/MONDO_0007185 | http://purl.obolibrary.org/obo/MONDO_0018234 |
intellectual disability-spasticity-ectrodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009524 | http://purl.obolibrary.org/obo/MONDO_0018234 |
trigonocephaly | http://purl.obolibrary.org/obo/MONDO_0000156 | http://purl.obolibrary.org/obo/MONDO_0018234 |
isolated trigonocephaly | http://purl.obolibrary.org/obo/MONDO_0018065 | http://purl.obolibrary.org/obo/MONDO_0000156 |
dysostosis of genetic origin | http://purl.obolibrary.org/obo/MONDO_0018454 | http://purl.obolibrary.org/obo/MONDO_0018234 |
mandibulofacial dysostosis-macroblepharon-macrostomia syndrome | http://purl.obolibrary.org/obo/MONDO_0011255 | http://purl.obolibrary.org/obo/MONDO_0018454 |
pelvic dysplasia-arthrogryposis of lower limbs syndrome | http://purl.obolibrary.org/obo/MONDO_0011235 | http://purl.obolibrary.org/obo/MONDO_0018454 |
limb-mammary syndrome | http://purl.obolibrary.org/obo/MONDO_0011334 | http://purl.obolibrary.org/obo/MONDO_0018454 |
temtamy preaxial brachydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0011533 | http://purl.obolibrary.org/obo/MONDO_0018454 |
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome | http://purl.obolibrary.org/obo/MONDO_0011555 | http://purl.obolibrary.org/obo/MONDO_0018454 |
familial digital arthropathy-brachydactyly | http://purl.obolibrary.org/obo/MONDO_0011732 | http://purl.obolibrary.org/obo/MONDO_0018454 |
syndactyly | http://purl.obolibrary.org/obo/MONDO_0021002 | http://purl.obolibrary.org/obo/MONDO_0018454 |
non-syndromic syndactyly | http://purl.obolibrary.org/obo/MONDO_0019530 | http://purl.obolibrary.org/obo/MONDO_0021002 |
syndactyly type 6 | http://purl.obolibrary.org/obo/MONDO_0017460 | http://purl.obolibrary.org/obo/MONDO_0019530 |
non-syndromic synpolydactyly | http://purl.obolibrary.org/obo/MONDO_0000722 | http://purl.obolibrary.org/obo/MONDO_0019530 |
synpolydactyly type 2 | http://purl.obolibrary.org/obo/MONDO_0011984 | http://purl.obolibrary.org/obo/MONDO_0000722 |
polysyndactyly 4 | http://purl.obolibrary.org/obo/MONDO_0008272 | http://purl.obolibrary.org/obo/MONDO_0000722 |
polysyndactyly, bilateral | http://purl.obolibrary.org/obo/MONDO_0017530 | http://purl.obolibrary.org/obo/MONDO_0008272 |
polysyndactyly, unilateral | http://purl.obolibrary.org/obo/MONDO_0017529 | http://purl.obolibrary.org/obo/MONDO_0008272 |
synpolydactyly type 3 | http://purl.obolibrary.org/obo/MONDO_0012447 | http://purl.obolibrary.org/obo/MONDO_0000722 |
synpolydactyly type 1 | http://purl.obolibrary.org/obo/MONDO_0008513 | http://purl.obolibrary.org/obo/MONDO_0000722 |
syndactyly type 8 | http://purl.obolibrary.org/obo/MONDO_0010669 | http://purl.obolibrary.org/obo/MONDO_0019530 |
mesoaxial synostotic syndactyly with phalangeal reduction | http://purl.obolibrary.org/obo/MONDO_0012271 | http://purl.obolibrary.org/obo/MONDO_0019530 |
syndactyly type 1 | http://purl.obolibrary.org/obo/MONDO_0008512 | http://purl.obolibrary.org/obo/MONDO_0019530 |
zygodactyly type 3 | http://purl.obolibrary.org/obo/MONDO_0017544 | http://purl.obolibrary.org/obo/MONDO_0008512 |
zygodactyly type 2 | http://purl.obolibrary.org/obo/MONDO_0017543 | http://purl.obolibrary.org/obo/MONDO_0008512 |
zygodactyly type 4 | http://purl.obolibrary.org/obo/MONDO_0017545 | http://purl.obolibrary.org/obo/MONDO_0008512 |
zygodactyly type 1 | http://purl.obolibrary.org/obo/MONDO_0012351 | http://purl.obolibrary.org/obo/MONDO_0008512 |
syndactyly type 3 | http://purl.obolibrary.org/obo/MONDO_0008514 | http://purl.obolibrary.org/obo/MONDO_0019530 |
syndactyly type 4 | http://purl.obolibrary.org/obo/MONDO_0008515 | http://purl.obolibrary.org/obo/MONDO_0019530 |
syndactyly type 5 | http://purl.obolibrary.org/obo/MONDO_0008516 | http://purl.obolibrary.org/obo/MONDO_0019530 |
synpolydactyly | http://purl.obolibrary.org/obo/MONDO_0021651 | http://purl.obolibrary.org/obo/MONDO_0021002 |
polydactyly | http://purl.obolibrary.org/obo/MONDO_0021003 | http://purl.obolibrary.org/obo/MONDO_0018454 |
non-syndromic polydactyly | http://purl.obolibrary.org/obo/MONDO_0011348 | http://purl.obolibrary.org/obo/MONDO_0021003 |
postaxial polydactyly | http://purl.obolibrary.org/obo/MONDO_0020927 | http://purl.obolibrary.org/obo/MONDO_0011348 |
postaxial polydactyly type A | http://purl.obolibrary.org/obo/MONDO_0019673 | http://purl.obolibrary.org/obo/MONDO_0020927 |
postaxial polydactyly type A, bilateral | http://purl.obolibrary.org/obo/MONDO_0017532 | http://purl.obolibrary.org/obo/MONDO_0019673 |
postaxial polydactyly type A, unilateral | http://purl.obolibrary.org/obo/MONDO_0017531 | http://purl.obolibrary.org/obo/MONDO_0019673 |
polydactyly, postaxial, type A8 | http://purl.obolibrary.org/obo/MONDO_0029130 | http://purl.obolibrary.org/obo/MONDO_0019673 |
postaxial polydactyly type B | http://purl.obolibrary.org/obo/MONDO_0019674 | http://purl.obolibrary.org/obo/MONDO_0020927 |
postaxial polydactyly type B, unilateral | http://purl.obolibrary.org/obo/MONDO_0017533 | http://purl.obolibrary.org/obo/MONDO_0019674 |
postaxial polydactyly type B, bilateral | http://purl.obolibrary.org/obo/MONDO_0017534 | http://purl.obolibrary.org/obo/MONDO_0019674 |
central polydactyly of fingers | http://purl.obolibrary.org/obo/MONDO_0017456 | http://purl.obolibrary.org/obo/MONDO_0011348 |
central polydactyly of fingers, bilateral | http://purl.obolibrary.org/obo/MONDO_0017536 | http://purl.obolibrary.org/obo/MONDO_0017456 |
central polydactyly of fingers, unilateral | http://purl.obolibrary.org/obo/MONDO_0017535 | http://purl.obolibrary.org/obo/MONDO_0017456 |
Preaxial polydactyly of toes | http://purl.obolibrary.org/obo/MONDO_0017457 | http://purl.obolibrary.org/obo/MONDO_0011348 |
Preaxial polydactyly of toes, unilateral | http://purl.obolibrary.org/obo/MONDO_0017537 | http://purl.obolibrary.org/obo/MONDO_0017457 |
Preaxial polydactyly of toes, bilateral | http://purl.obolibrary.org/obo/MONDO_0017538 | http://purl.obolibrary.org/obo/MONDO_0017457 |
postaxial polydactyly of fingers | http://purl.obolibrary.org/obo/MONDO_0017426 | http://purl.obolibrary.org/obo/MONDO_0011348 |
preaxial polydactyly of fingers | http://purl.obolibrary.org/obo/MONDO_0017425 | http://purl.obolibrary.org/obo/MONDO_0011348 |
polydactyly of a triphalangeal thumb | http://purl.obolibrary.org/obo/MONDO_0008270 | http://purl.obolibrary.org/obo/MONDO_0017425 |
polydactyly of a triphalangeal thumb, bilateral | http://purl.obolibrary.org/obo/MONDO_0017526 | http://purl.obolibrary.org/obo/MONDO_0008270 |
polydactyly of a triphalangeal thumb, unilateral | http://purl.obolibrary.org/obo/MONDO_0017525 | http://purl.obolibrary.org/obo/MONDO_0008270 |
polydactyly of an index finger | http://purl.obolibrary.org/obo/MONDO_0008271 | http://purl.obolibrary.org/obo/MONDO_0017425 |
polydactyly of an index finger, bilateral | http://purl.obolibrary.org/obo/MONDO_0017528 | http://purl.obolibrary.org/obo/MONDO_0008271 |
polydactyly of an index finger, unilateral | http://purl.obolibrary.org/obo/MONDO_0017527 | http://purl.obolibrary.org/obo/MONDO_0008271 |
polydactyly of a biphalangeal thumb | http://purl.obolibrary.org/obo/MONDO_0008269 | http://purl.obolibrary.org/obo/MONDO_0017425 |
polydactyly of a biphalangeal thumb, bilateral | http://purl.obolibrary.org/obo/MONDO_0017524 | http://purl.obolibrary.org/obo/MONDO_0008269 |
polydactyly of a biphalangeal thumb, unilateral | http://purl.obolibrary.org/obo/MONDO_0017523 | http://purl.obolibrary.org/obo/MONDO_0008269 |
brachydactyly | http://purl.obolibrary.org/obo/MONDO_0021004 | http://purl.obolibrary.org/obo/MONDO_0018454 |
non-syndromic brachydactyly | http://purl.obolibrary.org/obo/MONDO_0017424 | http://purl.obolibrary.org/obo/MONDO_0021004 |
symbrachydactyly of hands and feet | http://purl.obolibrary.org/obo/MONDO_0015516 | http://purl.obolibrary.org/obo/MONDO_0017424 |
symbrachydactyly of hand and foot, bilateral | http://purl.obolibrary.org/obo/MONDO_0017520 | http://purl.obolibrary.org/obo/MONDO_0015516 |
symbrachydactyly of hand and foot, unilateral | http://purl.obolibrary.org/obo/MONDO_0017519 | http://purl.obolibrary.org/obo/MONDO_0015516 |
non-syndromic brachydactyly of toes | http://purl.obolibrary.org/obo/MONDO_0017452 | http://purl.obolibrary.org/obo/MONDO_0017424 |
brachydactyly of toes, bilateral | http://purl.obolibrary.org/obo/MONDO_0017518 | http://purl.obolibrary.org/obo/MONDO_0017452 |
brachydactyly of toes, unilateral | http://purl.obolibrary.org/obo/MONDO_0017517 | http://purl.obolibrary.org/obo/MONDO_0017452 |
non-syndromic brachydactyly of fingers | http://purl.obolibrary.org/obo/MONDO_0017451 | http://purl.obolibrary.org/obo/MONDO_0017424 |
brachydactyly of fingers, unilateral | http://purl.obolibrary.org/obo/MONDO_0017515 | http://purl.obolibrary.org/obo/MONDO_0017451 |
brachydactyly of fingers, bilateral | http://purl.obolibrary.org/obo/MONDO_0017516 | http://purl.obolibrary.org/obo/MONDO_0017451 |
camptobrachydactyly | http://purl.obolibrary.org/obo/MONDO_0007249 | http://purl.obolibrary.org/obo/MONDO_0021004 |
brachydactyly type C | http://purl.obolibrary.org/obo/MONDO_0007221 | http://purl.obolibrary.org/obo/MONDO_0021004 |
Ballard syndrome | http://purl.obolibrary.org/obo/MONDO_0007213 | http://purl.obolibrary.org/obo/MONDO_0021004 |
brachydactyly type A1 | http://purl.obolibrary.org/obo/MONDO_0007215 | http://purl.obolibrary.org/obo/MONDO_0021004 |
brachydactyly type A2 | http://purl.obolibrary.org/obo/MONDO_0007216 | http://purl.obolibrary.org/obo/MONDO_0021004 |
brachydactyly type A4 | http://purl.obolibrary.org/obo/MONDO_0007218 | http://purl.obolibrary.org/obo/MONDO_0021004 |
brachydactyly type E | http://purl.obolibrary.org/obo/MONDO_0019677 | http://purl.obolibrary.org/obo/MONDO_0021004 |
brachydactyly type A5 | http://purl.obolibrary.org/obo/MONDO_0019678 | http://purl.obolibrary.org/obo/MONDO_0021004 |
brachydactyly type B | http://purl.obolibrary.org/obo/MONDO_0019676 | http://purl.obolibrary.org/obo/MONDO_0021004 |
brachydactyly type B1 | http://purl.obolibrary.org/obo/MONDO_0007220 | http://purl.obolibrary.org/obo/MONDO_0019676 |
brachydactyly type B2 | http://purl.obolibrary.org/obo/MONDO_0012658 | http://purl.obolibrary.org/obo/MONDO_0019676 |
brachydactyly type A7 | http://purl.obolibrary.org/obo/MONDO_0019679 | http://purl.obolibrary.org/obo/MONDO_0021004 |
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome | http://purl.obolibrary.org/obo/MONDO_0008237 | http://purl.obolibrary.org/obo/MONDO_0018454 |
pelvis-shoulder dysplasia | http://purl.obolibrary.org/obo/MONDO_0008217 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Duane-radial ray syndrome | http://purl.obolibrary.org/obo/MONDO_0011812 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Okihiro syndrome due to a point mutation | http://purl.obolibrary.org/obo/MONDO_0016864 | http://purl.obolibrary.org/obo/MONDO_0011812 |
Okihiro syndrome due to 20q13 microdeletion | http://purl.obolibrary.org/obo/MONDO_0016863 | http://purl.obolibrary.org/obo/MONDO_0011812 |
radio-renal syndrome | http://purl.obolibrary.org/obo/MONDO_0008359 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Currarino triad | http://purl.obolibrary.org/obo/MONDO_0008305 | http://purl.obolibrary.org/obo/MONDO_0018454 |
postaxial tetramelic oligodactyly | http://purl.obolibrary.org/obo/MONDO_0008298 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Poland syndrome | http://purl.obolibrary.org/obo/MONDO_0008262 | http://purl.obolibrary.org/obo/MONDO_0018454 |
congenital pseudoarthrosis of the limbs | http://purl.obolibrary.org/obo/MONDO_0015525 | http://purl.obolibrary.org/obo/MONDO_0018454 |
congenital pseudoarthrosis of the femur | http://purl.obolibrary.org/obo/MONDO_0017463 | http://purl.obolibrary.org/obo/MONDO_0015525 |
congenital pseudoarthrosis of the tibia | http://purl.obolibrary.org/obo/MONDO_0017462 | http://purl.obolibrary.org/obo/MONDO_0015525 |
congenital pseudoarthrosis of the ulna | http://purl.obolibrary.org/obo/MONDO_0017466 | http://purl.obolibrary.org/obo/MONDO_0015525 |
congenital pseudoarthrosis of the radius | http://purl.obolibrary.org/obo/MONDO_0017465 | http://purl.obolibrary.org/obo/MONDO_0015525 |
congenital pseudoarthrosis of the fibula | http://purl.obolibrary.org/obo/MONDO_0017464 | http://purl.obolibrary.org/obo/MONDO_0015525 |
oculomaxillofacial dysostosis | http://purl.obolibrary.org/obo/MONDO_0015824 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Tessier number 4 facial cleft | http://purl.obolibrary.org/obo/MONDO_0010850 | http://purl.obolibrary.org/obo/MONDO_0015824 |
mammary-digital-nail syndrome | http://purl.obolibrary.org/obo/MONDO_0013368 | http://purl.obolibrary.org/obo/MONDO_0018454 |
autosomal recessive amelia | http://purl.obolibrary.org/obo/MONDO_0011054 | http://purl.obolibrary.org/obo/MONDO_0018454 |
skeletal dysplasia-epilepsy-short stature syndrome | http://purl.obolibrary.org/obo/MONDO_0011011 | http://purl.obolibrary.org/obo/MONDO_0018454 |
joint formation defects | http://purl.obolibrary.org/obo/MONDO_0017429 | http://purl.obolibrary.org/obo/MONDO_0018454 |
tibio-fibular synostosis | http://purl.obolibrary.org/obo/MONDO_0017467 | http://purl.obolibrary.org/obo/MONDO_0017429 |
humero-radio-ulnar synostosis | http://purl.obolibrary.org/obo/MONDO_0017983 | http://purl.obolibrary.org/obo/MONDO_0017429 |
humero-radio-ulnar synostosis, unilateral | http://purl.obolibrary.org/obo/MONDO_0017548 | http://purl.obolibrary.org/obo/MONDO_0017983 |
humero-radio-ulnar synostosis, bilateral | http://purl.obolibrary.org/obo/MONDO_0017549 | http://purl.obolibrary.org/obo/MONDO_0017983 |
congenital radioulnar synostosis | http://purl.obolibrary.org/obo/MONDO_0017985 | http://purl.obolibrary.org/obo/MONDO_0017429 |
radio-ulnar synostosis, bilateral | http://purl.obolibrary.org/obo/MONDO_0017555 | http://purl.obolibrary.org/obo/MONDO_0017985 |
radio-ulnar synostosis, unilateral | http://purl.obolibrary.org/obo/MONDO_0017554 | http://purl.obolibrary.org/obo/MONDO_0017985 |
radioulnar synostosis-developmental delay-hypotonia syndrome | http://purl.obolibrary.org/obo/MONDO_0009952 | http://purl.obolibrary.org/obo/MONDO_0017985 |
Radio-ulnar synostosis, unilateral | http://www.orpha.net/ORDO/Orphanet_295217 | http://purl.obolibrary.org/obo/MONDO_0017985 |
Radio-ulnar synostosis, bilateral | http://www.orpha.net/ORDO/Orphanet_295219 | http://purl.obolibrary.org/obo/MONDO_0017985 |
isolated congenital digital clubbing | http://purl.obolibrary.org/obo/MONDO_0007343 | http://purl.obolibrary.org/obo/MONDO_0017429 |
humero-ulnar synostosis | http://purl.obolibrary.org/obo/MONDO_0019782 | http://purl.obolibrary.org/obo/MONDO_0017429 |
humero-ulnar synostosis, bilateral | http://purl.obolibrary.org/obo/MONDO_0017553 | http://purl.obolibrary.org/obo/MONDO_0019782 |
humero-ulnar synostosis, unilateral | http://purl.obolibrary.org/obo/MONDO_0017552 | http://purl.obolibrary.org/obo/MONDO_0019782 |
humeroradial synostosis | http://purl.obolibrary.org/obo/MONDO_0007737 | http://purl.obolibrary.org/obo/MONDO_0017429 |
humero-radial synostosis, bilateral | http://purl.obolibrary.org/obo/MONDO_0017551 | http://purl.obolibrary.org/obo/MONDO_0007737 |
humero-radial synostosis, unilateral | http://purl.obolibrary.org/obo/MONDO_0017550 | http://purl.obolibrary.org/obo/MONDO_0007737 |
distal symphalangism | http://purl.obolibrary.org/obo/MONDO_0008509 | http://purl.obolibrary.org/obo/MONDO_0017429 |
Feingold syndrome | http://purl.obolibrary.org/obo/MONDO_0015267 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Feingold syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0008115 | http://purl.obolibrary.org/obo/MONDO_0015267 |
Feingold syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0013691 | http://purl.obolibrary.org/obo/MONDO_0015267 |
blepharophimosis-radioulnar synostosis syndrome | http://purl.obolibrary.org/obo/MONDO_0015255 | http://purl.obolibrary.org/obo/MONDO_0018454 |
radial deficiency-tibial hypoplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0015232 | http://purl.obolibrary.org/obo/MONDO_0018454 |
spondylocostal dysostosis-hypospadias-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0017995 | http://purl.obolibrary.org/obo/MONDO_0018454 |
syngnathia multiple anomalies | http://purl.obolibrary.org/obo/MONDO_0017980 | http://purl.obolibrary.org/obo/MONDO_0018454 |
multiple synostoses syndrome | http://purl.obolibrary.org/obo/MONDO_0017923 | http://purl.obolibrary.org/obo/MONDO_0018454 |
craniosynostosis | http://purl.obolibrary.org/obo/MONDO_0015469 | http://purl.obolibrary.org/obo/MONDO_0018454 |
glass-chapman-hockley syndrome | http://purl.obolibrary.org/obo/MONDO_0023243 | http://purl.obolibrary.org/obo/MONDO_0015469 |
craniosynostosis syndrome, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0011679 | http://purl.obolibrary.org/obo/MONDO_0015469 |
Antley-Bixler syndrome | http://purl.obolibrary.org/obo/MONDO_0008803 | http://purl.obolibrary.org/obo/MONDO_0011679 |
syndromic craniosynostosis | http://purl.obolibrary.org/obo/MONDO_0015338 | http://purl.obolibrary.org/obo/MONDO_0015469 |
Curry-Jones syndrome | http://purl.obolibrary.org/obo/MONDO_0011134 | http://purl.obolibrary.org/obo/MONDO_0015338 |
lethal occipital encephalocele-skeletal dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0013740 | http://purl.obolibrary.org/obo/MONDO_0015338 |
Muenke syndrome | http://purl.obolibrary.org/obo/MONDO_0011274 | http://purl.obolibrary.org/obo/MONDO_0015338 |
craniomicromelic syndrome | http://purl.obolibrary.org/obo/MONDO_0011253 | http://purl.obolibrary.org/obo/MONDO_0015338 |
craniosynostosis 2 | http://purl.obolibrary.org/obo/MONDO_0011481 | http://purl.obolibrary.org/obo/MONDO_0015338 |
cloverleaf skull-multiple congenital anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0011788 | http://purl.obolibrary.org/obo/MONDO_0015338 |
craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome | http://purl.obolibrary.org/obo/MONDO_0015751 | http://purl.obolibrary.org/obo/MONDO_0015338 |
familial scaphocephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0015704 | http://purl.obolibrary.org/obo/MONDO_0015338 |
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome | http://purl.obolibrary.org/obo/MONDO_0007401 | http://purl.obolibrary.org/obo/MONDO_0015704 |
familial scaphocephaly syndrome, McGillivray type | http://purl.obolibrary.org/obo/MONDO_0012307 | http://purl.obolibrary.org/obo/MONDO_0015704 |
osteosclerosis-developmental delay-craniosynostosis syndrome | http://purl.obolibrary.org/obo/MONDO_0015800 | http://purl.obolibrary.org/obo/MONDO_0015338 |
Hunter-McAlpine craniosynostosis | http://purl.obolibrary.org/obo/MONDO_0011065 | http://purl.obolibrary.org/obo/MONDO_0015338 |
holoprosencephaly-craniosynostosis syndrome | http://purl.obolibrary.org/obo/MONDO_0011059 | http://purl.obolibrary.org/obo/MONDO_0015338 |
craniosynostosis and dental anomalies | http://purl.obolibrary.org/obo/MONDO_0013615 | http://purl.obolibrary.org/obo/MONDO_0015338 |
cloverleaf skull-asphyxiating thoracic dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0015086 | http://purl.obolibrary.org/obo/MONDO_0015338 |
craniosynostosis, Philadelphia type | http://purl.obolibrary.org/obo/MONDO_0015467 | http://purl.obolibrary.org/obo/MONDO_0015338 |
craniosynostosis-cataract syndrome | http://purl.obolibrary.org/obo/MONDO_0015468 | http://purl.obolibrary.org/obo/MONDO_0015338 |
trigonocephaly-short stature-developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0010749 | http://purl.obolibrary.org/obo/MONDO_0015338 |
SCARF syndrome | http://purl.obolibrary.org/obo/MONDO_0010728 | http://purl.obolibrary.org/obo/MONDO_0015338 |
pseudoaminopterin syndrome | http://purl.obolibrary.org/obo/MONDO_0010865 | http://purl.obolibrary.org/obo/MONDO_0015338 |
Lowry-MacLean syndrome | http://purl.obolibrary.org/obo/MONDO_0010851 | http://purl.obolibrary.org/obo/MONDO_0015338 |
Beare-Stevenson cutis gyrata syndrome | http://purl.obolibrary.org/obo/MONDO_0007412 | http://purl.obolibrary.org/obo/MONDO_0015338 |
Crouzon syndrome | http://purl.obolibrary.org/obo/MONDO_0007405 | http://purl.obolibrary.org/obo/MONDO_0015338 |
acrocephalosyndactyly | http://purl.obolibrary.org/obo/MONDO_0019796 | http://purl.obolibrary.org/obo/MONDO_0015338 |
Jackson-Weiss syndrome | http://purl.obolibrary.org/obo/MONDO_0007400 | http://purl.obolibrary.org/obo/MONDO_0019796 |
Saethre-Chotzen syndrome | http://purl.obolibrary.org/obo/MONDO_0007042 | http://purl.obolibrary.org/obo/MONDO_0019796 |
acrocephalopolysyndactyly | http://purl.obolibrary.org/obo/MONDO_0000078 | http://purl.obolibrary.org/obo/MONDO_0019796 |
Pfeiffer syndrome | http://purl.obolibrary.org/obo/MONDO_0007043 | http://purl.obolibrary.org/obo/MONDO_0000078 |
Pfeiffer syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0019660 | http://purl.obolibrary.org/obo/MONDO_0007043 |
Pfeiffer syndrome type 3 | http://purl.obolibrary.org/obo/MONDO_0019661 | http://purl.obolibrary.org/obo/MONDO_0007043 |
Pfeiffer syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0019659 | http://purl.obolibrary.org/obo/MONDO_0007043 |
Sakati-Nyhan syndrome | http://purl.obolibrary.org/obo/MONDO_0007040 | http://purl.obolibrary.org/obo/MONDO_0000078 |
Carpenter syndrome | http://purl.obolibrary.org/obo/MONDO_0019012 | http://purl.obolibrary.org/obo/MONDO_0000078 |
RAB23-related Carpenter syndrome | http://purl.obolibrary.org/obo/MONDO_0008710 | http://purl.obolibrary.org/obo/MONDO_0019012 |
Goodman syndrome | http://purl.obolibrary.org/obo/MONDO_0008711 | http://purl.obolibrary.org/obo/MONDO_0000078 |
Summitt syndrome | http://purl.obolibrary.org/obo/MONDO_0010090 | http://purl.obolibrary.org/obo/MONDO_0015338 |
cardiocranial syndrome, Pfeiffer type | http://purl.obolibrary.org/obo/MONDO_0009036 | http://purl.obolibrary.org/obo/MONDO_0015338 |
craniosynostosis-fibular aplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0009038 | http://purl.obolibrary.org/obo/MONDO_0015338 |
Baller-Gerold syndrome | http://purl.obolibrary.org/obo/MONDO_0009039 | http://purl.obolibrary.org/obo/MONDO_0015338 |
Crouzon syndrome-acanthosis nigricans syndrome | http://purl.obolibrary.org/obo/MONDO_0012833 | http://purl.obolibrary.org/obo/MONDO_0015338 |
X-linked intellectual disability-plagiocephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0010237 | http://purl.obolibrary.org/obo/MONDO_0015338 |
craniosynostosis-intracranial calcifications syndrome | http://purl.obolibrary.org/obo/MONDO_0012035 | http://purl.obolibrary.org/obo/MONDO_0015338 |
craniosynostosis, Herrmann-Opitz type | http://purl.obolibrary.org/obo/MONDO_0016291 | http://purl.obolibrary.org/obo/MONDO_0015338 |
Shprintzen-Goldberg syndrome | http://purl.obolibrary.org/obo/MONDO_0008426 | http://purl.obolibrary.org/obo/MONDO_0015338 |
acrocephalopolydactyly | http://purl.obolibrary.org/obo/MONDO_0008709 | http://purl.obolibrary.org/obo/MONDO_0015338 |
trigonocephaly-broad thumbs syndrome | http://purl.obolibrary.org/obo/MONDO_0018064 | http://purl.obolibrary.org/obo/MONDO_0015338 |
C syndrome | http://purl.obolibrary.org/obo/MONDO_0008893 | http://purl.obolibrary.org/obo/MONDO_0015338 |
isolated craniosynostosis | http://purl.obolibrary.org/obo/MONDO_0015337 | http://purl.obolibrary.org/obo/MONDO_0015469 |
familial lambdoid synostosis | http://purl.obolibrary.org/obo/MONDO_0017984 | http://purl.obolibrary.org/obo/MONDO_0015337 |
isolated cloverleaf skull syndrome | http://purl.obolibrary.org/obo/MONDO_0007861 | http://purl.obolibrary.org/obo/MONDO_0015337 |
isolated oxycephaly | http://purl.obolibrary.org/obo/MONDO_0018971 | http://purl.obolibrary.org/obo/MONDO_0015337 |
TWIST1-related craniosynostosis | http://purl.obolibrary.org/obo/MONDO_0007399 | http://purl.obolibrary.org/obo/MONDO_0018971 |
isolated scaphocephaly | http://purl.obolibrary.org/obo/MONDO_0018112 | http://purl.obolibrary.org/obo/MONDO_0015337 |
isolated plagiocephaly | http://purl.obolibrary.org/obo/MONDO_0018113 | http://purl.obolibrary.org/obo/MONDO_0015337 |
TCF12-related craniosynostosis | http://purl.obolibrary.org/obo/MONDO_0014128 | http://purl.obolibrary.org/obo/MONDO_0018113 |
isolated brachycephaly | http://purl.obolibrary.org/obo/MONDO_0018114 | http://purl.obolibrary.org/obo/MONDO_0015337 |
Coffin-Siris syndrome | http://purl.obolibrary.org/obo/MONDO_0015452 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Coffin-Siris syndrome 11 | http://purl.obolibrary.org/obo/MONDO_0032912 | http://purl.obolibrary.org/obo/MONDO_0015452 |
Townes-Brocks syndrome | http://purl.obolibrary.org/obo/MONDO_0007142 | http://purl.obolibrary.org/obo/MONDO_0018454 |
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | http://purl.obolibrary.org/obo/MONDO_0007124 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Rosselli-Gulienetti syndrome | http://purl.obolibrary.org/obo/MONDO_0009148 | http://purl.obolibrary.org/obo/MONDO_0007124 |
Wildervanck syndrome | http://purl.obolibrary.org/obo/MONDO_0010759 | http://purl.obolibrary.org/obo/MONDO_0018454 |
ulnar hypoplasia-split foot syndrome | http://purl.obolibrary.org/obo/MONDO_0010750 | http://purl.obolibrary.org/obo/MONDO_0018454 |
absent radius-anogenital anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0010718 | http://purl.obolibrary.org/obo/MONDO_0018454 |
ADULT syndrome | http://purl.obolibrary.org/obo/MONDO_0007072 | http://purl.obolibrary.org/obo/MONDO_0018454 |
brachytelephalangy-dysmorphism-Kallmann syndrome | http://purl.obolibrary.org/obo/MONDO_0007231 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Brachymorphism-onychodysplasia-dysphalangism syndrome | http://purl.obolibrary.org/obo/MONDO_0007230 | http://purl.obolibrary.org/obo/MONDO_0018454 |
2q37 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0010886 | http://purl.obolibrary.org/obo/MONDO_0018454 |
fibular aplasia-ectrodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0007225 | http://purl.obolibrary.org/obo/MONDO_0018454 |
brachydactyly-arterial hypertension syndrome | http://purl.obolibrary.org/obo/MONDO_0007211 | http://purl.obolibrary.org/obo/MONDO_0018454 |
pelviscapular dysplasia | http://purl.obolibrary.org/obo/MONDO_0009845 | http://purl.obolibrary.org/obo/MONDO_0018454 |
familial osteodysplasia, Anderson type | http://purl.obolibrary.org/obo/MONDO_0009801 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Rubinstein-Taybi syndrome | http://purl.obolibrary.org/obo/MONDO_0019188 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | http://purl.obolibrary.org/obo/MONDO_0013364 | http://purl.obolibrary.org/obo/MONDO_0019188 |
chromosome 16p13.3 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0022752 | http://purl.obolibrary.org/obo/MONDO_0019188 |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | http://purl.obolibrary.org/obo/MONDO_0012519 | http://purl.obolibrary.org/obo/MONDO_0022752 |
Rubinstein-Taybi syndrome due to CREBBP mutations | http://purl.obolibrary.org/obo/MONDO_0008393 | http://purl.obolibrary.org/obo/MONDO_0019188 |
congenital pseudoarthrosis of clavicle | http://purl.obolibrary.org/obo/MONDO_0007330 | http://purl.obolibrary.org/obo/MONDO_0018454 |
absent tibia-polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0020306 | http://purl.obolibrary.org/obo/MONDO_0018454 |
absent tibia-polydactyly-arachnoid cyst syndrome | http://purl.obolibrary.org/obo/MONDO_0010981 | http://purl.obolibrary.org/obo/MONDO_0018454 |
cerebrocostomandibular syndrome | http://purl.obolibrary.org/obo/MONDO_0007301 | http://purl.obolibrary.org/obo/MONDO_0018454 |
rapadilino syndrome | http://purl.obolibrary.org/obo/MONDO_0009955 | http://purl.obolibrary.org/obo/MONDO_0018454 |
ischio-vertebral syndrome | http://purl.obolibrary.org/obo/MONDO_0019413 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Fanconi anemia | http://purl.obolibrary.org/obo/MONDO_0019391 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Fanconi anemia complementation group D1 | http://purl.obolibrary.org/obo/MONDO_0011584 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group P | http://purl.obolibrary.org/obo/MONDO_0013499 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group L | http://purl.obolibrary.org/obo/MONDO_0013566 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia, complementation group S | http://purl.obolibrary.org/obo/MONDO_0054748 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia, complementation group W | http://purl.obolibrary.org/obo/MONDO_0044325 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group E | http://purl.obolibrary.org/obo/MONDO_0010953 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group N | http://purl.obolibrary.org/obo/MONDO_0012565 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group C | http://purl.obolibrary.org/obo/MONDO_0009213 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group D2 | http://purl.obolibrary.org/obo/MONDO_0009214 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group J | http://purl.obolibrary.org/obo/MONDO_0012187 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group I | http://purl.obolibrary.org/obo/MONDO_0012186 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group G | http://www.ebi.ac.uk/efo/EFO_0009046 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group F | http://www.ebi.ac.uk/efo/EFO_0009045 | http://purl.obolibrary.org/obo/MONDO_0019391 |
Fanconi anemia complementation group A | http://www.ebi.ac.uk/efo/EFO_0009044 | http://purl.obolibrary.org/obo/MONDO_0019391 |
hand-foot-genital syndrome | http://purl.obolibrary.org/obo/MONDO_0007698 | http://purl.obolibrary.org/obo/MONDO_0018454 |
femoral-facial syndrome | http://purl.obolibrary.org/obo/MONDO_0007604 | http://purl.obolibrary.org/obo/MONDO_0018454 |
imperforate oropharynx-costo vetebral anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0017162 | http://purl.obolibrary.org/obo/MONDO_0018454 |
oromandibular-limb hypogenesis syndrome | http://purl.obolibrary.org/obo/MONDO_0017139 | http://purl.obolibrary.org/obo/MONDO_0018454 |
glossopalatine ankylosis | http://purl.obolibrary.org/obo/MONDO_0015399 | http://purl.obolibrary.org/obo/MONDO_0017139 |
Charlie M syndrome | http://purl.obolibrary.org/obo/MONDO_0015367 | http://purl.obolibrary.org/obo/MONDO_0017139 |
hypoglossia-hypodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0007073 | http://purl.obolibrary.org/obo/MONDO_0017139 |
non-syndromic polydactyly, syndactyly and/or hyperphalangy | http://purl.obolibrary.org/obo/MONDO_0019714 | http://purl.obolibrary.org/obo/MONDO_0018454 |
hyperphalangy | http://purl.obolibrary.org/obo/MONDO_0017455 | http://purl.obolibrary.org/obo/MONDO_0019714 |
hyperphalangy, bilateral | http://purl.obolibrary.org/obo/MONDO_0017522 | http://purl.obolibrary.org/obo/MONDO_0017455 |
hyperphalangy, unilateral | http://purl.obolibrary.org/obo/MONDO_0017521 | http://purl.obolibrary.org/obo/MONDO_0017455 |
patellar dysostosis | http://purl.obolibrary.org/obo/MONDO_0019712 | http://purl.obolibrary.org/obo/MONDO_0018454 |
genitopatellar syndrome | http://purl.obolibrary.org/obo/MONDO_0011640 | http://purl.obolibrary.org/obo/MONDO_0019712 |
nail-patella syndrome | http://purl.obolibrary.org/obo/MONDO_0008061 | http://purl.obolibrary.org/obo/MONDO_0019712 |
patella aplasia/hypoplasia | http://purl.obolibrary.org/obo/MONDO_0008205 | http://purl.obolibrary.org/obo/MONDO_0019712 |
patella aplasia/hypoplasia, bilateral | http://purl.obolibrary.org/obo/MONDO_0017473 | http://purl.obolibrary.org/obo/MONDO_0008205 |
patella aplasia/hypoplasia, unilateral | http://purl.obolibrary.org/obo/MONDO_0017472 | http://purl.obolibrary.org/obo/MONDO_0008205 |
chondromalacia patellae | http://purl.obolibrary.org/obo/MONDO_0008207 | http://purl.obolibrary.org/obo/MONDO_0019712 |
familial clubfoot due to PITX1 point mutation | http://purl.obolibrary.org/obo/MONDO_0017383 | http://purl.obolibrary.org/obo/MONDO_0019712 |
coxopodopatellar syndrome | http://purl.obolibrary.org/obo/MONDO_0007841 | http://purl.obolibrary.org/obo/MONDO_0019712 |
non-syndromic limb reduction defect | http://purl.obolibrary.org/obo/MONDO_0019713 | http://purl.obolibrary.org/obo/MONDO_0018454 |
humeral agenesis/hypoplasia | http://purl.obolibrary.org/obo/MONDO_0017440 | http://purl.obolibrary.org/obo/MONDO_0019713 |
humeral agenesis/hypoplasia, bilateral | http://purl.obolibrary.org/obo/MONDO_0017483 | http://purl.obolibrary.org/obo/MONDO_0017440 |
humeral agenesis/hypoplasia, unilateral | http://purl.obolibrary.org/obo/MONDO_0017482 | http://purl.obolibrary.org/obo/MONDO_0017440 |
non-syndromic terminal limb defects | http://purl.obolibrary.org/obo/MONDO_0017421 | http://purl.obolibrary.org/obo/MONDO_0019713 |
acheiria | http://purl.obolibrary.org/obo/MONDO_0017445 | http://purl.obolibrary.org/obo/MONDO_0017421 |
acheiria, bilateral | http://purl.obolibrary.org/obo/MONDO_0017503 | http://purl.obolibrary.org/obo/MONDO_0017445 |
acheiria, unilateral | http://purl.obolibrary.org/obo/MONDO_0017502 | http://purl.obolibrary.org/obo/MONDO_0017445 |
congenital absence of both lower leg and foot | http://purl.obolibrary.org/obo/MONDO_0017444 | http://purl.obolibrary.org/obo/MONDO_0017421 |
congenital absence of both lower leg and foot, unilateral | http://purl.obolibrary.org/obo/MONDO_0017500 | http://purl.obolibrary.org/obo/MONDO_0017444 |
congenital absence of both lower leg and foot, bilateral | http://purl.obolibrary.org/obo/MONDO_0017501 | http://purl.obolibrary.org/obo/MONDO_0017444 |
congenital absence of both forearm and hand | http://purl.obolibrary.org/obo/MONDO_0017443 | http://purl.obolibrary.org/obo/MONDO_0017421 |
congenital absence of both forearm and hand, bilateral | http://purl.obolibrary.org/obo/MONDO_0017499 | http://purl.obolibrary.org/obo/MONDO_0017443 |
congenital absence of both forearm and hand, unilateral | http://purl.obolibrary.org/obo/MONDO_0017498 | http://purl.obolibrary.org/obo/MONDO_0017443 |
apodia | http://purl.obolibrary.org/obo/MONDO_0017446 | http://purl.obolibrary.org/obo/MONDO_0017421 |
apodia, unilateral | http://purl.obolibrary.org/obo/MONDO_0017504 | http://purl.obolibrary.org/obo/MONDO_0017446 |
apodia, bilateral | http://purl.obolibrary.org/obo/MONDO_0017505 | http://purl.obolibrary.org/obo/MONDO_0017446 |
adactyly of hand | http://purl.obolibrary.org/obo/MONDO_0017422 | http://purl.obolibrary.org/obo/MONDO_0017421 |
congenital absence/hypoplasia of fingers excluding thumb | http://purl.obolibrary.org/obo/MONDO_0017448 | http://purl.obolibrary.org/obo/MONDO_0017422 |
congenital absence/hypoplasia of fingers excluding thumb, bilateral | http://purl.obolibrary.org/obo/MONDO_0017508 | http://purl.obolibrary.org/obo/MONDO_0017448 |
congenital absence/hypoplasia of fingers excluding thumb, unilateral | http://purl.obolibrary.org/obo/MONDO_0007062 | http://purl.obolibrary.org/obo/MONDO_0017448 |
congenital absence/hypoplasia of thumb | http://purl.obolibrary.org/obo/MONDO_0017447 | http://purl.obolibrary.org/obo/MONDO_0017422 |
congenital absence/hypoplasia of thumb, bilateral | http://purl.obolibrary.org/obo/MONDO_0017507 | http://purl.obolibrary.org/obo/MONDO_0017447 |
congenital absence/hypoplasia of thumb, unilateral | http://purl.obolibrary.org/obo/MONDO_0017506 | http://purl.obolibrary.org/obo/MONDO_0017447 |
amniotic band syndrome | http://purl.obolibrary.org/obo/MONDO_0015167 | http://purl.obolibrary.org/obo/MONDO_0017421 |
constriction rings syndrome | http://purl.obolibrary.org/obo/MONDO_0009011 | http://purl.obolibrary.org/obo/MONDO_0015167 |
terminal transverse defects of arm | http://purl.obolibrary.org/obo/MONDO_0019760 | http://purl.obolibrary.org/obo/MONDO_0009011 |
adactyly of foot | http://purl.obolibrary.org/obo/MONDO_0018563 | http://purl.obolibrary.org/obo/MONDO_0017421 |
adactyly of foot, unilateral | http://purl.obolibrary.org/obo/MONDO_0017509 | http://purl.obolibrary.org/obo/MONDO_0018563 |
adactyly of foot, bilateral | http://purl.obolibrary.org/obo/MONDO_0017510 | http://purl.obolibrary.org/obo/MONDO_0018563 |
intercalary limb defects | http://purl.obolibrary.org/obo/MONDO_0017420 | http://purl.obolibrary.org/obo/MONDO_0019713 |
congenital absence of upper arm and forearm with hand present | http://purl.obolibrary.org/obo/MONDO_0017441 | http://purl.obolibrary.org/obo/MONDO_0017420 |
congenital absence of thigh and lower leg with foot present | http://purl.obolibrary.org/obo/MONDO_0017442 | http://purl.obolibrary.org/obo/MONDO_0017420 |
congenital absence of thigh and lower leg with foot present, unilateral | http://purl.obolibrary.org/obo/MONDO_0017496 | http://purl.obolibrary.org/obo/MONDO_0017442 |
congenital absence of thigh and lower leg with foot present, bilateral | http://purl.obolibrary.org/obo/MONDO_0017497 | http://purl.obolibrary.org/obo/MONDO_0017442 |
non-syndromic amelia | http://purl.obolibrary.org/obo/MONDO_0017419 | http://purl.obolibrary.org/obo/MONDO_0019713 |
amelia of lower limb | http://purl.obolibrary.org/obo/MONDO_0017438 | http://purl.obolibrary.org/obo/MONDO_0017419 |
amelia of lower limb, bilateral | http://purl.obolibrary.org/obo/MONDO_0017481 | http://purl.obolibrary.org/obo/MONDO_0017438 |
amelia of lower limb, unilateral | http://purl.obolibrary.org/obo/MONDO_0017480 | http://purl.obolibrary.org/obo/MONDO_0017438 |
amelia of upper limb | http://purl.obolibrary.org/obo/MONDO_0017437 | http://purl.obolibrary.org/obo/MONDO_0017419 |
amelia of upper limb, unilateral | http://purl.obolibrary.org/obo/MONDO_0017478 | http://purl.obolibrary.org/obo/MONDO_0017437 |
amelia of upper limb, bilateral | http://purl.obolibrary.org/obo/MONDO_0017479 | http://purl.obolibrary.org/obo/MONDO_0017437 |
tetra-amelia | http://purl.obolibrary.org/obo/MONDO_0017439 | http://purl.obolibrary.org/obo/MONDO_0017419 |
femoral agenesis/hypoplasia | http://purl.obolibrary.org/obo/MONDO_0016032 | http://purl.obolibrary.org/obo/MONDO_0019713 |
femoral agenesis/hypoplasia, bilateral | http://purl.obolibrary.org/obo/MONDO_0017485 | http://purl.obolibrary.org/obo/MONDO_0016032 |
femoral agenesis/hypoplasia, unilateral | http://purl.obolibrary.org/obo/MONDO_0017484 | http://purl.obolibrary.org/obo/MONDO_0016032 |
hemimelia | http://purl.obolibrary.org/obo/MONDO_0016240 | http://purl.obolibrary.org/obo/MONDO_0019713 |
ulnar hemimelia | http://purl.obolibrary.org/obo/MONDO_0019670 | http://purl.obolibrary.org/obo/MONDO_0016240 |
ulnar hemimelia, unilateral | http://purl.obolibrary.org/obo/MONDO_0017489 | http://purl.obolibrary.org/obo/MONDO_0019670 |
ulnar hemimelia, bilateral | http://purl.obolibrary.org/obo/MONDO_0017488 | http://purl.obolibrary.org/obo/MONDO_0019670 |
radial hemimelia | http://purl.obolibrary.org/obo/MONDO_0019671 | http://purl.obolibrary.org/obo/MONDO_0016240 |
radial hemimelia, bilateral | http://purl.obolibrary.org/obo/MONDO_0017487 | http://purl.obolibrary.org/obo/MONDO_0019671 |
radial hemimelia, unilateral | http://purl.obolibrary.org/obo/MONDO_0017486 | http://purl.obolibrary.org/obo/MONDO_0019671 |
fibular hemimelia | http://purl.obolibrary.org/obo/MONDO_0019672 | http://purl.obolibrary.org/obo/MONDO_0016240 |
fibular hemimelia, unilateral | http://purl.obolibrary.org/obo/MONDO_0017492 | http://purl.obolibrary.org/obo/MONDO_0019672 |
fibular hemimelia, bilateral | http://purl.obolibrary.org/obo/MONDO_0017493 | http://purl.obolibrary.org/obo/MONDO_0019672 |
tibial hemimelia | http://purl.obolibrary.org/obo/MONDO_0010144 | http://purl.obolibrary.org/obo/MONDO_0016240 |
tibial hemimelia, bilateral | http://purl.obolibrary.org/obo/MONDO_0017491 | http://purl.obolibrary.org/obo/MONDO_0010144 |
tibial hemimelia, unilateral | http://purl.obolibrary.org/obo/MONDO_0017490 | http://purl.obolibrary.org/obo/MONDO_0010144 |
oculoauriculovertebral spectrum with radial defects | http://purl.obolibrary.org/obo/MONDO_0007712 | http://purl.obolibrary.org/obo/MONDO_0018454 |
IVIC syndrome | http://purl.obolibrary.org/obo/MONDO_0007836 | http://purl.obolibrary.org/obo/MONDO_0018454 |
camptodactyly-tall stature-scoliosis-hearing loss syndrome | http://purl.obolibrary.org/obo/MONDO_0012504 | http://purl.obolibrary.org/obo/MONDO_0018454 |
split hand-foot malformation 1 with sensorineural hearing loss | http://purl.obolibrary.org/obo/MONDO_0009080 | http://purl.obolibrary.org/obo/MONDO_0018454 |
spondylocostal dysostosis-anal and genitourinary malformations syndrome | http://purl.obolibrary.org/obo/MONDO_0010069 | http://purl.obolibrary.org/obo/MONDO_0018454 |
EEC syndrome | http://purl.obolibrary.org/obo/MONDO_0010004 | http://purl.obolibrary.org/obo/MONDO_0018454 |
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | http://purl.obolibrary.org/obo/MONDO_0011428 | http://purl.obolibrary.org/obo/MONDO_0010004 |
COG1-CDG | http://purl.obolibrary.org/obo/MONDO_0012637 | http://purl.obolibrary.org/obo/MONDO_0018454 |
femur-fibula-ulna complex | http://purl.obolibrary.org/obo/MONDO_0009221 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Gollop-Wolfgang complex | http://purl.obolibrary.org/obo/MONDO_0009222 | http://purl.obolibrary.org/obo/MONDO_0018454 |
lethal faciocardiomelic dysplasia | http://purl.obolibrary.org/obo/MONDO_0009204 | http://purl.obolibrary.org/obo/MONDO_0018454 |
phocomelia, Schinzel type | http://purl.obolibrary.org/obo/MONDO_0010164 | http://purl.obolibrary.org/obo/MONDO_0018454 |
ulna hypoplasia-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0010165 | http://purl.obolibrary.org/obo/MONDO_0018454 |
EEM syndrome | http://purl.obolibrary.org/obo/MONDO_0009155 | http://purl.obolibrary.org/obo/MONDO_0018454 |
thrombocytopenia-absent radius syndrome | http://purl.obolibrary.org/obo/MONDO_0010121 | http://purl.obolibrary.org/obo/MONDO_0018454 |
tetraamelia-multiple malformations syndrome | http://purl.obolibrary.org/obo/MONDO_0010110 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Teebi-Shaltout syndrome | http://purl.obolibrary.org/obo/MONDO_0010101 | http://purl.obolibrary.org/obo/MONDO_0018454 |
cerebrofaciothoracic dysplasia | http://purl.obolibrary.org/obo/MONDO_0008952 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome | http://purl.obolibrary.org/obo/MONDO_0008806 | http://purl.obolibrary.org/obo/MONDO_0018454 |
camptodactyly syndrome, Guadalajara type 2 | http://purl.obolibrary.org/obo/MONDO_0008899 | http://purl.obolibrary.org/obo/MONDO_0018454 |
bipartite talus | http://purl.obolibrary.org/obo/MONDO_0018228 | http://purl.obolibrary.org/obo/MONDO_0018454 |
acrofacial dysostosis | http://purl.obolibrary.org/obo/MONDO_0018237 | http://purl.obolibrary.org/obo/MONDO_0018454 |
acrofacial dysostosis, Palagonia type | http://purl.obolibrary.org/obo/MONDO_0011154 | http://purl.obolibrary.org/obo/MONDO_0018237 |
acromelic frontonasal dysostosis | http://purl.obolibrary.org/obo/MONDO_0011359 | http://purl.obolibrary.org/obo/MONDO_0018237 |
postaxial acrofacial dysostosis | http://purl.obolibrary.org/obo/MONDO_0009903 | http://purl.obolibrary.org/obo/MONDO_0018237 |
acrodysostosis with multiple hormone resistance | http://purl.obolibrary.org/obo/MONDO_0017240 | http://purl.obolibrary.org/obo/MONDO_0018237 |
mandibulofacial dysostosis-microcephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0012516 | http://purl.obolibrary.org/obo/MONDO_0018237 |
X-linked mandibulofacial dysostosis | http://purl.obolibrary.org/obo/MONDO_0010539 | http://purl.obolibrary.org/obo/MONDO_0018237 |
acrofacial dysostosis, Catania type | http://purl.obolibrary.org/obo/MONDO_0007045 | http://purl.obolibrary.org/obo/MONDO_0018237 |
acrofacial dysostosis, Kennedy-Teebi type | http://purl.obolibrary.org/obo/MONDO_0018980 | http://purl.obolibrary.org/obo/MONDO_0018237 |
Patterson-Stevenson-Fontaine syndrome | http://purl.obolibrary.org/obo/MONDO_0008465 | http://purl.obolibrary.org/obo/MONDO_0018237 |
acrofacial dysostosis, Weyers type | http://purl.obolibrary.org/obo/MONDO_0008673 | http://purl.obolibrary.org/obo/MONDO_0018237 |
acrocraniofacial dysostosis | http://purl.obolibrary.org/obo/MONDO_0008712 | http://purl.obolibrary.org/obo/MONDO_0018237 |
acrofacial dysostosis Rodriguez type | http://purl.obolibrary.org/obo/MONDO_0008714 | http://purl.obolibrary.org/obo/MONDO_0018237 |
acrofrontofacionasal dysostosis | http://purl.obolibrary.org/obo/MONDO_0008715 | http://purl.obolibrary.org/obo/MONDO_0018237 |
acrofrontofacionasal dysostosis 2 | http://purl.obolibrary.org/obo/MONDO_0009402 | http://purl.obolibrary.org/obo/MONDO_0008715 |
microcephaly-brachydactyly-kyphoscoliosis syndrome | http://purl.obolibrary.org/obo/MONDO_0018091 | http://purl.obolibrary.org/obo/MONDO_0018454 |
diffuse idiopathic skeletal hyperostosis | http://www.ebi.ac.uk/efo/EFO_0007236 | http://purl.obolibrary.org/obo/MONDO_0018454 |
humerus trochlea aplasia | http://purl.obolibrary.org/obo/MONDO_0008611 | http://purl.obolibrary.org/obo/MONDO_0018454 |
hereditary thrombocytosis with transverse limb defect | http://purl.obolibrary.org/obo/MONDO_0018000 | http://purl.obolibrary.org/obo/MONDO_0018454 |
tibial aplasia-ectrodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0018050 | http://purl.obolibrary.org/obo/MONDO_0018454 |
chromosome 17P13.3, telomeric, duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0012944 | http://purl.obolibrary.org/obo/MONDO_0018050 |
hypoplastic tibiae-postaxial polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0018052 | http://purl.obolibrary.org/obo/MONDO_0018454 |
proximal symphalangism | http://purl.obolibrary.org/obo/MONDO_0008511 | http://purl.obolibrary.org/obo/MONDO_0018454 |
symphalangism with multiple anomalies of hands and feet | http://purl.obolibrary.org/obo/MONDO_0008510 | http://purl.obolibrary.org/obo/MONDO_0018454 |
tarsal-carpal coalition syndrome | http://purl.obolibrary.org/obo/MONDO_0008521 | http://purl.obolibrary.org/obo/MONDO_0018454 |
tetramelic monodactyly | http://purl.obolibrary.org/obo/MONDO_0008544 | http://purl.obolibrary.org/obo/MONDO_0018454 |
scalp defects-postaxial polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0008403 | http://purl.obolibrary.org/obo/MONDO_0018454 |
ulnar-mammary syndrome | http://purl.obolibrary.org/obo/MONDO_0008411 | http://purl.obolibrary.org/obo/MONDO_0018454 |
splenogonadal fusion-limb defects-micrognathia syndrome | http://purl.obolibrary.org/obo/MONDO_0008460 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Karsch-Neugebauer syndrome | http://purl.obolibrary.org/obo/MONDO_0008466 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Melhem-Fahl syndrome | http://purl.obolibrary.org/obo/MONDO_0016622 | http://purl.obolibrary.org/obo/MONDO_0018454 |
frontonasal dysplasia | http://purl.obolibrary.org/obo/MONDO_0016643 | http://purl.obolibrary.org/obo/MONDO_0018454 |
frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | http://purl.obolibrary.org/obo/MONDO_0013271 | http://purl.obolibrary.org/obo/MONDO_0016643 |
frontonasal dysplasia with alopecia and genital anomaly | http://purl.obolibrary.org/obo/MONDO_0013268 | http://purl.obolibrary.org/obo/MONDO_0016643 |
oculoauriculofrontonasal syndrome | http://purl.obolibrary.org/obo/MONDO_0011082 | http://purl.obolibrary.org/obo/MONDO_0016643 |
Pai syndrome | http://purl.obolibrary.org/obo/MONDO_0007956 | http://purl.obolibrary.org/obo/MONDO_0016643 |
craniofrontonasal dysplasia-Poland anomaly syndrome | http://purl.obolibrary.org/obo/MONDO_0015464 | http://purl.obolibrary.org/obo/MONDO_0016643 |
frontorhiny | http://purl.obolibrary.org/obo/MONDO_0007636 | http://purl.obolibrary.org/obo/MONDO_0016643 |
frontofacionasal dysplasia | http://purl.obolibrary.org/obo/MONDO_0009247 | http://purl.obolibrary.org/obo/MONDO_0016643 |
limb transversal defect-cardiac anomaly syndrome | http://purl.obolibrary.org/obo/MONDO_0016641 | http://purl.obolibrary.org/obo/MONDO_0018454 |
hyperphosphatasia-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0016596 | http://purl.obolibrary.org/obo/MONDO_0018454 |
heart-hand syndrome | http://purl.obolibrary.org/obo/MONDO_0016432 | http://purl.obolibrary.org/obo/MONDO_0018454 |
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0011454 | http://purl.obolibrary.org/obo/MONDO_0016432 |
heart-hand syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0015284 | http://purl.obolibrary.org/obo/MONDO_0016432 |
brachydactyly-long thumb syndrome | http://purl.obolibrary.org/obo/MONDO_0007212 | http://purl.obolibrary.org/obo/MONDO_0016432 |
Holt-Oram syndrome | http://purl.obolibrary.org/obo/MONDO_0007732 | http://purl.obolibrary.org/obo/MONDO_0016432 |
heart-hand syndrome type 3 | http://purl.obolibrary.org/obo/MONDO_0007702 | http://purl.obolibrary.org/obo/MONDO_0007732 |
heart-hand syndrome, Slovenian type | http://purl.obolibrary.org/obo/MONDO_0012417 | http://purl.obolibrary.org/obo/MONDO_0016432 |
Carney complex - trismus - pseudocamptodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0012137 | http://purl.obolibrary.org/obo/MONDO_0016432 |
shoulder and thorax deformity-congenital heart disease syndrome | http://purl.obolibrary.org/obo/MONDO_0016024 | http://purl.obolibrary.org/obo/MONDO_0018454 |
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0018681 | http://purl.obolibrary.org/obo/MONDO_0018454 |
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation | http://purl.obolibrary.org/obo/MONDO_0014700 | http://purl.obolibrary.org/obo/MONDO_0018681 |
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion | http://purl.obolibrary.org/obo/MONDO_0018131 | http://purl.obolibrary.org/obo/MONDO_0018681 |
Cornelia de Lange syndrome | http://purl.obolibrary.org/obo/MONDO_0016033 | http://purl.obolibrary.org/obo/MONDO_0018454 |
familial clubfoot with or without associated lower limb anomalies | http://purl.obolibrary.org/obo/MONDO_0016046 | http://purl.obolibrary.org/obo/MONDO_0018454 |
familial clubfoot due to 17q23.1q23.2 microduplication | http://purl.obolibrary.org/obo/MONDO_0013329 | http://purl.obolibrary.org/obo/MONDO_0016046 |
clubfoot | http://purl.obolibrary.org/obo/MONDO_0007342 | http://purl.obolibrary.org/obo/MONDO_0016046 |
familial clubfoot due to 5q31 microdeletion | http://purl.obolibrary.org/obo/MONDO_0017382 | http://purl.obolibrary.org/obo/MONDO_0007342 |
progressive non-infectious anterior vertebral fusion | http://purl.obolibrary.org/obo/MONDO_0016087 | http://purl.obolibrary.org/obo/MONDO_0018454 |
spondylocostal dysostosis | http://purl.obolibrary.org/obo/MONDO_0000359 | http://purl.obolibrary.org/obo/MONDO_0018454 |
autosomal dominant spondylocostal dysostosis | http://purl.obolibrary.org/obo/MONDO_0015826 | http://purl.obolibrary.org/obo/MONDO_0000359 |
autosomal recessive spondylocostal dysostosis | http://purl.obolibrary.org/obo/MONDO_0010180 | http://purl.obolibrary.org/obo/MONDO_0000359 |
Al-Gazali syndrome | http://purl.obolibrary.org/obo/MONDO_0012282 | http://purl.obolibrary.org/obo/MONDO_0018454 |
mandibulofacial dysostosis with alopecia | http://purl.obolibrary.org/obo/MONDO_0014608 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0014689 | http://purl.obolibrary.org/obo/MONDO_0018454 |
tall stature-scoliosis-macrodactyly of the great toes syndrome | http://purl.obolibrary.org/obo/MONDO_0014401 | http://purl.obolibrary.org/obo/MONDO_0018454 |
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0014369 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Adams-Oliver syndrome | http://purl.obolibrary.org/obo/MONDO_0007034 | http://purl.obolibrary.org/obo/MONDO_0018454 |
absence deformity of leg-cataract syndrome | http://purl.obolibrary.org/obo/MONDO_0009516 | http://purl.obolibrary.org/obo/MONDO_0018454 |
syndactyly-telecanthus-anogenital and renal malformations syndrome | http://purl.obolibrary.org/obo/MONDO_0010408 | http://purl.obolibrary.org/obo/MONDO_0018454 |
Fuhrmann syndrome | http://purl.obolibrary.org/obo/MONDO_0009232 | http://purl.obolibrary.org/obo/MONDO_0018454 |
endocrine-cerebro-osteodysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0012980 | http://purl.obolibrary.org/obo/MONDO_0018454 |
developmental dysplasia of the hip | http://www.ebi.ac.uk/efo/EFO_1000648 | http://www.ebi.ac.uk/efo/EFO_0005541 |
developmental defect during embryogenesis | http://purl.obolibrary.org/obo/MONDO_0019755 | http://purl.obolibrary.org/obo/MONDO_0021147 |
joint laxity, short stature, and myopia | http://purl.obolibrary.org/obo/MONDO_0060556 | http://purl.obolibrary.org/obo/MONDO_0019755 |
nose and cavum anomaly | http://purl.obolibrary.org/obo/MONDO_0015503 | http://purl.obolibrary.org/obo/MONDO_0019755 |
intractable diarrhea-choanal atresia-eye anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0015295 | http://purl.obolibrary.org/obo/MONDO_0015503 |
arrhinia-choanal atresia-microphthalmia syndrome | http://purl.obolibrary.org/obo/MONDO_0015238 | http://purl.obolibrary.org/obo/MONDO_0015503 |
nasal encephalocele | http://purl.obolibrary.org/obo/MONDO_0015394 | http://purl.obolibrary.org/obo/MONDO_0015503 |
blepharonasofacial malformation syndrome | http://purl.obolibrary.org/obo/MONDO_0007200 | http://purl.obolibrary.org/obo/MONDO_0015503 |
LADD syndrome | http://purl.obolibrary.org/obo/MONDO_0007872 | http://purl.obolibrary.org/obo/MONDO_0015503 |
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0012064 | http://purl.obolibrary.org/obo/MONDO_0015503 |
choanal atresia | http://purl.obolibrary.org/obo/MONDO_0012155 | http://purl.obolibrary.org/obo/MONDO_0015503 |
bifid nose | http://purl.obolibrary.org/obo/MONDO_0000110 | http://purl.obolibrary.org/obo/MONDO_0015503 |
BNAR syndrome | http://purl.obolibrary.org/obo/MONDO_0012165 | http://purl.obolibrary.org/obo/MONDO_0000110 |
larynx anomaly | http://purl.obolibrary.org/obo/MONDO_0015504 | http://purl.obolibrary.org/obo/MONDO_0019755 |
congenital laryngeal web | http://purl.obolibrary.org/obo/MONDO_0007880 | http://purl.obolibrary.org/obo/MONDO_0015504 |
larynx atresia | http://purl.obolibrary.org/obo/MONDO_0007879 | http://purl.obolibrary.org/obo/MONDO_0015504 |
congenital laryngomalacia | http://purl.obolibrary.org/obo/MONDO_0007878 | http://purl.obolibrary.org/obo/MONDO_0015504 |
laryngotracheoesophageal cleft | http://purl.obolibrary.org/obo/MONDO_0016060 | http://purl.obolibrary.org/obo/MONDO_0015504 |
cleft larynx, posterior | http://purl.obolibrary.org/obo/MONDO_0008990 | http://purl.obolibrary.org/obo/MONDO_0016060 |
tracheal anomaly | http://purl.obolibrary.org/obo/MONDO_0015505 | http://purl.obolibrary.org/obo/MONDO_0019755 |
congenital tracheal stenosis | http://purl.obolibrary.org/obo/MONDO_0011340 | http://purl.obolibrary.org/obo/MONDO_0015505 |
tracheomalacia | http://purl.obolibrary.org/obo/MONDO_0019804 | http://purl.obolibrary.org/obo/MONDO_0015505 |
cutis laxa - Marfanoid syndrome | http://purl.obolibrary.org/obo/MONDO_0013574 | http://purl.obolibrary.org/obo/MONDO_0019755 |
neurofibromatosis-Noonan syndrome | http://purl.obolibrary.org/obo/MONDO_0011035 | http://purl.obolibrary.org/obo/MONDO_0019755 |
Watson syndrome | http://purl.obolibrary.org/obo/MONDO_0008672 | http://purl.obolibrary.org/obo/MONDO_0011035 |
von Hippel-Lindau disease | http://purl.obolibrary.org/obo/MONDO_0008667 | http://purl.obolibrary.org/obo/MONDO_0019755 |
difference of sexual differentiation | http://purl.obolibrary.org/obo/MONDO_0002145 | http://purl.obolibrary.org/obo/MONDO_0019755 |
46,XX disorder of sex development | http://purl.obolibrary.org/obo/MONDO_0017576 | http://purl.obolibrary.org/obo/MONDO_0002145 |
46,XX disorder of sex development-anorectal anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0017573 | http://purl.obolibrary.org/obo/MONDO_0017576 |
46,XX disorder of gonadal development | http://purl.obolibrary.org/obo/MONDO_0017961 | http://purl.obolibrary.org/obo/MONDO_0017576 |
Testicular regression syndrome | http://www.orpha.net/ORDO/Orphanet_983 | http://purl.obolibrary.org/obo/MONDO_0017961 |
46,XX gonadal dysgenesis | http://www.orpha.net/ORDO/Orphanet_243 | http://purl.obolibrary.org/obo/MONDO_0017961 |
46 XX gonadal dysgenesis | http://purl.obolibrary.org/obo/MONDO_0009299 | http://purl.obolibrary.org/obo/MONDO_0017961 |
SERKAL syndrome | http://purl.obolibrary.org/obo/MONDO_0012734 | http://purl.obolibrary.org/obo/MONDO_0009299 |
Testicular agenesis | http://www.orpha.net/ORDO/Orphanet_325124 | http://purl.obolibrary.org/obo/MONDO_0017961 |
46,XX ovotesticular disorder of sex development | http://purl.obolibrary.org/obo/MONDO_0016281 | http://purl.obolibrary.org/obo/MONDO_0017961 |
46,XX disorder of sex development induced by androgens excess | http://purl.obolibrary.org/obo/MONDO_0020039 | http://purl.obolibrary.org/obo/MONDO_0017576 |
46,XX disorder of sex development induced by fetoplacental androgens excess | http://purl.obolibrary.org/obo/MONDO_0017962 | http://purl.obolibrary.org/obo/MONDO_0020039 |
aromatase deficiency | http://purl.obolibrary.org/obo/MONDO_0013301 | http://purl.obolibrary.org/obo/MONDO_0017962 |
Aromatase deficiency | http://www.orpha.net/ORDO/Orphanet_91 | http://purl.obolibrary.org/obo/MONDO_0017962 |
46,XX disorder of sex development induced by fetal androgens excess | http://purl.obolibrary.org/obo/MONDO_0019593 | http://purl.obolibrary.org/obo/MONDO_0020039 |
congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | http://purl.obolibrary.org/obo/MONDO_0013310 | http://purl.obolibrary.org/obo/MONDO_0019593 |
Glucocorticoid resistance | http://www.orpha.net/ORDO/Orphanet_786 | http://purl.obolibrary.org/obo/MONDO_0019593 |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | http://www.orpha.net/ORDO/Orphanet_95699 | http://purl.obolibrary.org/obo/MONDO_0019593 |
glucocorticoid resistance | http://purl.obolibrary.org/obo/MONDO_0014421 | http://purl.obolibrary.org/obo/MONDO_0019593 |
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | http://www.orpha.net/ORDO/Orphanet_90795 | http://purl.obolibrary.org/obo/MONDO_0019593 |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | http://www.orpha.net/ORDO/Orphanet_90794 | http://purl.obolibrary.org/obo/MONDO_0019593 |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form | http://www.orpha.net/ORDO/Orphanet_315311 | http://www.orpha.net/ORDO/Orphanet_90794 |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form | http://www.orpha.net/ORDO/Orphanet_315306 | http://www.orpha.net/ORDO/Orphanet_90794 |
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_90791 | http://purl.obolibrary.org/obo/MONDO_0019593 |
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0008727 | http://purl.obolibrary.org/obo/MONDO_0019593 |
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | http://purl.obolibrary.org/obo/MONDO_0008728 | http://purl.obolibrary.org/obo/MONDO_0019593 |
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form | http://purl.obolibrary.org/obo/MONDO_0017839 | http://purl.obolibrary.org/obo/MONDO_0008728 |
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form | http://purl.obolibrary.org/obo/MONDO_0017840 | http://purl.obolibrary.org/obo/MONDO_0008728 |
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | http://purl.obolibrary.org/obo/MONDO_0008729 | http://purl.obolibrary.org/obo/MONDO_0019593 |
46,XX disorder of sex development-skeletal anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0009915 | http://purl.obolibrary.org/obo/MONDO_0017576 |
sex chromosome disorder of sex development | http://purl.obolibrary.org/obo/MONDO_0017975 | http://purl.obolibrary.org/obo/MONDO_0002145 |
Klinefelter's syndrome | http://www.ebi.ac.uk/efo/EFO_1001006 | http://purl.obolibrary.org/obo/MONDO_0017975 |
45,X/46,XY mixed gonadal dysgenesis | http://purl.obolibrary.org/obo/MONDO_0015779 | http://purl.obolibrary.org/obo/MONDO_0017975 |
49,XXXXY syndrome | http://purl.obolibrary.org/obo/MONDO_0019929 | http://purl.obolibrary.org/obo/MONDO_0017975 |
48,XXXY syndrome | http://purl.obolibrary.org/obo/MONDO_0019928 | http://purl.obolibrary.org/obo/MONDO_0017975 |
48,XXYY syndrome | http://purl.obolibrary.org/obo/MONDO_0015028 | http://purl.obolibrary.org/obo/MONDO_0017975 |
Turner syndrome | http://purl.obolibrary.org/obo/MONDO_0019499 | http://purl.obolibrary.org/obo/MONDO_0017975 |
monosomy X | http://purl.obolibrary.org/obo/MONDO_0020466 | http://purl.obolibrary.org/obo/MONDO_0019499 |
mosaic monosomy X | http://purl.obolibrary.org/obo/MONDO_0020467 | http://purl.obolibrary.org/obo/MONDO_0020466 |
Turner syndrome due to structural X chromosome anomalies | http://purl.obolibrary.org/obo/MONDO_0020472 | http://purl.obolibrary.org/obo/MONDO_0019499 |
Mosaic monosomy X | http://www.orpha.net/ORDO/Orphanet_99228 | http://purl.obolibrary.org/obo/MONDO_0019499 |
Monosomy X | http://www.orpha.net/ORDO/Orphanet_99226 | http://purl.obolibrary.org/obo/MONDO_0019499 |
tetragametic chimerism | http://purl.obolibrary.org/obo/MONDO_0016045 | http://purl.obolibrary.org/obo/MONDO_0017975 |
freemartinism | http://www.ebi.ac.uk/efo/EFO_1000939 | http://purl.obolibrary.org/obo/MONDO_0017975 |
46,XY disorder of sex development | http://purl.obolibrary.org/obo/MONDO_0020040 | http://purl.obolibrary.org/obo/MONDO_0002145 |
distal monosomy 9p | http://purl.obolibrary.org/obo/MONDO_0015605 | http://purl.obolibrary.org/obo/MONDO_0020040 |
46,XY disorder of gonadal development | http://purl.obolibrary.org/obo/MONDO_0017966 | http://purl.obolibrary.org/obo/MONDO_0020040 |
46,XY ovotesticular disorder of sex development | http://purl.obolibrary.org/obo/MONDO_0017968 | http://purl.obolibrary.org/obo/MONDO_0017966 |
testicular agenesis | http://purl.obolibrary.org/obo/MONDO_0017967 | http://purl.obolibrary.org/obo/MONDO_0017966 |
46,XY complete gonadal dysgenesis | http://purl.obolibrary.org/obo/MONDO_0010765 | http://purl.obolibrary.org/obo/MONDO_0017966 |
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | http://purl.obolibrary.org/obo/MONDO_0011766 | http://purl.obolibrary.org/obo/MONDO_0010765 |
46,XY partial gonadal dysgenesis | http://purl.obolibrary.org/obo/MONDO_0016674 | http://purl.obolibrary.org/obo/MONDO_0017966 |
46,XY disorder of sex development of endocrine origin | http://purl.obolibrary.org/obo/MONDO_0017969 | http://purl.obolibrary.org/obo/MONDO_0020040 |
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | http://purl.obolibrary.org/obo/MONDO_0013400 | http://purl.obolibrary.org/obo/MONDO_0017969 |
persistent Mullerian duct syndrome | http://purl.obolibrary.org/obo/MONDO_0009857 | http://purl.obolibrary.org/obo/MONDO_0017969 |
androgen insensitivity syndrome | http://purl.obolibrary.org/obo/MONDO_0019154 | http://purl.obolibrary.org/obo/MONDO_0017969 |
complete androgen insensitivity syndrome | http://purl.obolibrary.org/obo/MONDO_0021023 | http://purl.obolibrary.org/obo/MONDO_0019154 |
partial androgen insensitivity syndrome | http://purl.obolibrary.org/obo/MONDO_0010720 | http://purl.obolibrary.org/obo/MONDO_0019154 |
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency | http://purl.obolibrary.org/obo/MONDO_0009923 | http://purl.obolibrary.org/obo/MONDO_0017969 |
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | http://purl.obolibrary.org/obo/MONDO_0009916 | http://purl.obolibrary.org/obo/MONDO_0017969 |
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | http://purl.obolibrary.org/obo/MONDO_0008730 | http://purl.obolibrary.org/obo/MONDO_0017969 |
46,XY disorder of sex development due to isolated 17,20-lyase deficiency | http://purl.obolibrary.org/obo/MONDO_0019597 | http://purl.obolibrary.org/obo/MONDO_0008730 |
congenital lipoid adrenal hyperplasia due to STAR deficency | http://purl.obolibrary.org/obo/MONDO_0008725 | http://purl.obolibrary.org/obo/MONDO_0017969 |
non-classic congenital lipoid adrenal hyperplasia due to STAR deficency | http://purl.obolibrary.org/obo/MONDO_0017973 | http://purl.obolibrary.org/obo/MONDO_0008725 |
classic congenital lipoid adrenal hyperplasia due to STAR deficency | http://purl.obolibrary.org/obo/MONDO_0017972 | http://purl.obolibrary.org/obo/MONDO_0008725 |
disorder of sex development-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0010824 | http://purl.obolibrary.org/obo/MONDO_0020040 |
chondrodysplasia-pseudohermaphroditism syndrome | http://purl.obolibrary.org/obo/MONDO_0010814 | http://purl.obolibrary.org/obo/MONDO_0020040 |
Frasier syndrome | http://purl.obolibrary.org/obo/MONDO_0007635 | http://purl.obolibrary.org/obo/MONDO_0020040 |
XY type gonadal dysgenesis-associated anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0009302 | http://purl.obolibrary.org/obo/MONDO_0020040 |
genito-palato-cardiac syndrome | http://purl.obolibrary.org/obo/MONDO_0009270 | http://purl.obolibrary.org/obo/MONDO_0020040 |
alpha thalassemia-X-linked intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0010519 | http://purl.obolibrary.org/obo/MONDO_0020040 |
Meacham syndrome | http://purl.obolibrary.org/obo/MONDO_0012164 | http://purl.obolibrary.org/obo/MONDO_0020040 |
sudden infant death-dysgenesis of the testes syndrome | http://purl.obolibrary.org/obo/MONDO_0012124 | http://purl.obolibrary.org/obo/MONDO_0020040 |
dysmorphism-short stature-deafness-disorder of sex development syndrome | http://purl.obolibrary.org/obo/MONDO_0016433 | http://purl.obolibrary.org/obo/MONDO_0020040 |
Denys-Drash syndrome | http://purl.obolibrary.org/obo/MONDO_0008682 | http://purl.obolibrary.org/obo/MONDO_0020040 |
WAGR syndrome | http://purl.obolibrary.org/obo/MONDO_0008681 | http://purl.obolibrary.org/obo/MONDO_0020040 |
PAGOD syndrome | http://purl.obolibrary.org/obo/MONDO_0008741 | http://purl.obolibrary.org/obo/MONDO_0020040 |
familial adrenal hypoplasia with absent pituitary luteinizing hormone | http://purl.obolibrary.org/obo/MONDO_0008731 | http://purl.obolibrary.org/obo/MONDO_0020040 |
indeterminate sex and/or pseudohermaphroditism | http://purl.obolibrary.org/obo/MONDO_0024665 | http://purl.obolibrary.org/obo/MONDO_0002145 |
pseudohermaphroditism | http://www.ebi.ac.uk/efo/EFO_0005579 | http://purl.obolibrary.org/obo/MONDO_0024665 |
46,XX testicular disorder of sex development | http://purl.obolibrary.org/obo/MONDO_0100249 | http://purl.obolibrary.org/obo/MONDO_0002145 |
toxic or drug-related embryofetopathy | http://purl.obolibrary.org/obo/MONDO_0016677 | http://purl.obolibrary.org/obo/MONDO_0019755 |
fetal anticonvulsant syndrome | http://purl.obolibrary.org/obo/MONDO_0018262 | http://purl.obolibrary.org/obo/MONDO_0016677 |
fetal trimethadione syndrome | http://purl.obolibrary.org/obo/MONDO_0016009 | http://purl.obolibrary.org/obo/MONDO_0018262 |
German syndrome | http://purl.obolibrary.org/obo/MONDO_0009272 | http://purl.obolibrary.org/obo/MONDO_0016009 |
maternal disease-related embryofetopathy | http://purl.obolibrary.org/obo/MONDO_0016678 | http://purl.obolibrary.org/obo/MONDO_0019755 |
maternal phenylketonuria | http://purl.obolibrary.org/obo/MONDO_0016366 | http://purl.obolibrary.org/obo/MONDO_0016678 |
infectious embryofetopathy | http://purl.obolibrary.org/obo/MONDO_0016511 | http://purl.obolibrary.org/obo/MONDO_0019755 |
congenital enterovirus infection | http://purl.obolibrary.org/obo/MONDO_0017375 | http://purl.obolibrary.org/obo/MONDO_0016511 |
congenital rubella | http://www.ebi.ac.uk/efo/EFO_0007218 | http://purl.obolibrary.org/obo/MONDO_0016511 |
congenital syphilis | http://www.ebi.ac.uk/efo/EFO_0007219 | http://purl.obolibrary.org/obo/MONDO_0016511 |
late congenital syphilis | http://www.ebi.ac.uk/efo/EFO_0007339 | http://www.ebi.ac.uk/efo/EFO_0007219 |
congenital toxoplasmosis | http://www.ebi.ac.uk/efo/EFO_0007220 | http://purl.obolibrary.org/obo/MONDO_0016511 |
cleft palate | http://purl.obolibrary.org/obo/MONDO_0016064 | http://purl.obolibrary.org/obo/MONDO_0019755 |
isolated cleft palate | http://purl.obolibrary.org/obo/MONDO_0007336 | http://purl.obolibrary.org/obo/MONDO_0016064 |
cleft palate with or without ankyloglossia, X-linked | http://purl.obolibrary.org/obo/MONDO_0010560 | http://purl.obolibrary.org/obo/MONDO_0016064 |
lethal Larsen-like syndrome | http://purl.obolibrary.org/obo/MONDO_0009512 | http://purl.obolibrary.org/obo/MONDO_0019755 |
blindness - scoliosis - arachnodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0012907 | http://purl.obolibrary.org/obo/MONDO_0019755 |
Legius syndrome | http://purl.obolibrary.org/obo/MONDO_0012669 | http://purl.obolibrary.org/obo/MONDO_0019755 |
Larsen syndrome | http://purl.obolibrary.org/obo/MONDO_0007875 | http://purl.obolibrary.org/obo/MONDO_0019755 |
congenital anomaly of kidney and urinary tract | http://purl.obolibrary.org/obo/MONDO_0019719 | http://purl.obolibrary.org/obo/MONDO_0019755 |
congenital anomalies of kidney and urinary tract 1 | http://purl.obolibrary.org/obo/MONDO_0012561 | http://purl.obolibrary.org/obo/MONDO_0019719 |
anotia | http://purl.obolibrary.org/obo/MONDO_0019780 | http://purl.obolibrary.org/obo/MONDO_0019755 |
syndromic genetic hearing loss | http://purl.obolibrary.org/obo/MONDO_0019589 | http://purl.obolibrary.org/obo/MONDO_0019755 |
familial steroid-resistant nephrotic syndrome with sensorineural deafness | http://purl.obolibrary.org/obo/MONDO_0013836 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deaf blind hypopigmentation syndrome, Yemenite type | http://purl.obolibrary.org/obo/MONDO_0011133 | http://purl.obolibrary.org/obo/MONDO_0019589 |
sinoatrial node dysfunction and deafness | http://purl.obolibrary.org/obo/MONDO_0013960 | http://purl.obolibrary.org/obo/MONDO_0019589 |
H syndrome | http://purl.obolibrary.org/obo/MONDO_0011273 | http://purl.obolibrary.org/obo/MONDO_0019589 |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | http://purl.obolibrary.org/obo/MONDO_0013875 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Chudley-McCullough syndrome | http://purl.obolibrary.org/obo/MONDO_0011411 | http://purl.obolibrary.org/obo/MONDO_0019589 |
autosomal dominant cerebellar ataxia, deafness and narcolepsy | http://purl.obolibrary.org/obo/MONDO_0011397 | http://purl.obolibrary.org/obo/MONDO_0019589 |
cardiospondylocarpofacial syndrome | http://purl.obolibrary.org/obo/MONDO_0008005 | http://purl.obolibrary.org/obo/MONDO_0019589 |
auditory neuropathy-optic atrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0060582 | http://purl.obolibrary.org/obo/MONDO_0019589 |
myoclonus-cerebellar ataxia-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0008043 | http://purl.obolibrary.org/obo/MONDO_0019589 |
developmental malformations-deafness-dystonia syndrome | http://purl.obolibrary.org/obo/MONDO_0011823 | http://purl.obolibrary.org/obo/MONDO_0019589 |
lipodystrophy-intellectual disability-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0011976 | http://purl.obolibrary.org/obo/MONDO_0019589 |
EAST syndrome | http://purl.obolibrary.org/obo/MONDO_0013005 | http://purl.obolibrary.org/obo/MONDO_0019589 |
congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0013116 | http://purl.obolibrary.org/obo/MONDO_0019589 |
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | http://purl.obolibrary.org/obo/MONDO_0013711 | http://purl.obolibrary.org/obo/MONDO_0019589 |
human HOXA1 syndromes | http://purl.obolibrary.org/obo/MONDO_0011099 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Bosley-Salih-Alorainy syndrome | http://purl.obolibrary.org/obo/MONDO_0019075 | http://purl.obolibrary.org/obo/MONDO_0011099 |
progressive deafness with stapes fixation | http://purl.obolibrary.org/obo/MONDO_0011080 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness-epiphyseal dysplasia-short stature syndrome | http://purl.obolibrary.org/obo/MONDO_0011047 | http://purl.obolibrary.org/obo/MONDO_0019589 |
cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | http://purl.obolibrary.org/obo/MONDO_0011038 | http://purl.obolibrary.org/obo/MONDO_0019589 |
hypertelorism-preauricular sinus-punctual pits-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0013614 | http://purl.obolibrary.org/obo/MONDO_0019589 |
microcephaly-deafness-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0007991 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Perrault syndrome | http://purl.obolibrary.org/obo/MONDO_0017312 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Perrault syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0013972 | http://purl.obolibrary.org/obo/MONDO_0017312 |
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0017316 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Binder syndrome | http://purl.obolibrary.org/obo/MONDO_0007953 | http://purl.obolibrary.org/obo/MONDO_0019589 |
hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0017406 | http://purl.obolibrary.org/obo/MONDO_0019589 |
caudal appendage-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0015233 | http://purl.obolibrary.org/obo/MONDO_0019589 |
neuropathy with hearing impairment | http://purl.obolibrary.org/obo/MONDO_0015351 | http://purl.obolibrary.org/obo/MONDO_0019589 |
cataract-deafness-hypogonadism syndrome | http://purl.obolibrary.org/obo/MONDO_0015325 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness-onychodystrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0017922 | http://purl.obolibrary.org/obo/MONDO_0019589 |
autosomal dominant deafness - onychodystrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0007420 | http://purl.obolibrary.org/obo/MONDO_0017922 |
DOORS syndrome | http://purl.obolibrary.org/obo/MONDO_0009079 | http://purl.obolibrary.org/obo/MONDO_0017922 |
hearing loss-familial salivary gland insensitivity to aldosterone syndrome | http://purl.obolibrary.org/obo/MONDO_0017921 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome | http://purl.obolibrary.org/obo/MONDO_0017920 | http://purl.obolibrary.org/obo/MONDO_0019589 |
central nervous system calcification-deafness-tubular acidosis-anemia syndrome | http://purl.obolibrary.org/obo/MONDO_0017924 | http://purl.obolibrary.org/obo/MONDO_0019589 |
arthrogryposis-like hand anomaly-sensorineural deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0007159 | http://purl.obolibrary.org/obo/MONDO_0019589 |
MELAS syndrome | http://purl.obolibrary.org/obo/MONDO_0010789 | http://purl.obolibrary.org/obo/MONDO_0019589 |
orofaciodigital syndrome III | http://purl.obolibrary.org/obo/MONDO_0009793 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Kearns-Sayre syndrome | http://purl.obolibrary.org/obo/MONDO_0010787 | http://purl.obolibrary.org/obo/MONDO_0019589 |
maternally-inherited diabetes and deafness | http://purl.obolibrary.org/obo/MONDO_0010785 | http://purl.obolibrary.org/obo/MONDO_0019589 |
dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0019102 | http://purl.obolibrary.org/obo/MONDO_0019589 |
spastic paraparesis-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0010732 | http://purl.obolibrary.org/obo/MONDO_0019589 |
nephrosis-deafness-urinary tract-digital malformations syndrome | http://purl.obolibrary.org/obo/MONDO_0009731 | http://purl.obolibrary.org/obo/MONDO_0019589 |
orofaciodigital syndrome I | http://purl.obolibrary.org/obo/MONDO_0010702 | http://purl.obolibrary.org/obo/MONDO_0019589 |
nephropathy - deafness - hyperparathyroidism syndrome | http://purl.obolibrary.org/obo/MONDO_0009729 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Tietz syndrome | http://purl.obolibrary.org/obo/MONDO_0007077 | http://purl.obolibrary.org/obo/MONDO_0019589 |
craniofacial-deafness-hand syndrome | http://purl.obolibrary.org/obo/MONDO_0007395 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Ramos-Arroyo syndrome | http://purl.obolibrary.org/obo/MONDO_0007382 | http://purl.obolibrary.org/obo/MONDO_0019589 |
cochleosaccular degeneration-cataract syndrome | http://purl.obolibrary.org/obo/MONDO_0007346 | http://purl.obolibrary.org/obo/MONDO_0019589 |
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome | http://purl.obolibrary.org/obo/MONDO_0009983 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Charcot-Marie-Tooth disease type 1E | http://purl.obolibrary.org/obo/MONDO_0007311 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness-ear malformation-facial palsy syndrome | http://purl.obolibrary.org/obo/MONDO_0007421 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness-craniofacial syndrome | http://purl.obolibrary.org/obo/MONDO_0007428 | http://purl.obolibrary.org/obo/MONDO_0019589 |
infantile Bartter syndrome with sensorineural deafness | http://purl.obolibrary.org/obo/MONDO_0019524 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Bartter disease type 4a | http://purl.obolibrary.org/obo/MONDO_0011242 | http://purl.obolibrary.org/obo/MONDO_0019524 |
Usher syndrome | http://purl.obolibrary.org/obo/MONDO_0019501 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Usher syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0010168 | http://purl.obolibrary.org/obo/MONDO_0019501 |
Usher syndrome type 1C | http://purl.obolibrary.org/obo/MONDO_0010171 | http://purl.obolibrary.org/obo/MONDO_0010168 |
Usher syndrome type 1B | http://purl.obolibrary.org/obo/MONDO_0700087 | http://purl.obolibrary.org/obo/MONDO_0010168 |
Usher syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0016484 | http://purl.obolibrary.org/obo/MONDO_0019501 |
Usher syndrome type 2D | http://purl.obolibrary.org/obo/MONDO_0012662 | http://purl.obolibrary.org/obo/MONDO_0016484 |
Usher syndrome type 2A | http://purl.obolibrary.org/obo/MONDO_0010169 | http://purl.obolibrary.org/obo/MONDO_0016484 |
Usher syndrome type 3 | http://purl.obolibrary.org/obo/MONDO_0016485 | http://purl.obolibrary.org/obo/MONDO_0019501 |
thickened earlobes-conductive deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0007504 | http://purl.obolibrary.org/obo/MONDO_0019589 |
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome | http://purl.obolibrary.org/obo/MONDO_0017041 | http://purl.obolibrary.org/obo/MONDO_0019589 |
diaph1-related sensorineural hearing loss-thrombocytopenia syndrome | http://purl.obolibrary.org/obo/MONDO_0044635 | http://purl.obolibrary.org/obo/MONDO_0019589 |
gingival fibromatosis-progressive deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0007612 | http://purl.obolibrary.org/obo/MONDO_0019589 |
olivopontocerebellar atrophy-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0017135 | http://purl.obolibrary.org/obo/MONDO_0019589 |
hypoparathyroidism-deafness-renal disease syndrome | http://purl.obolibrary.org/obo/MONDO_0007797 | http://purl.obolibrary.org/obo/MONDO_0019589 |
neutropenia-monocytopenia-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0017100 | http://purl.obolibrary.org/obo/MONDO_0019589 |
hyperostosis cranialis interna | http://purl.obolibrary.org/obo/MONDO_0007765 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Noonan syndrome with multiple lentigines | http://purl.obolibrary.org/obo/MONDO_0007893 | http://purl.obolibrary.org/obo/MONDO_0019589 |
congenital vertebral-cardiac-renal anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0020831 | http://purl.obolibrary.org/obo/MONDO_0019589 |
vertebral, cardiac, renal, and limb defects syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0060554 | http://purl.obolibrary.org/obo/MONDO_0020831 |
vertebral, cardiac, renal, and limb defects syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0060555 | http://purl.obolibrary.org/obo/MONDO_0020831 |
deafness-infertility syndrome | http://purl.obolibrary.org/obo/MONDO_0012621 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness with labyrinthine aplasia, microtia, and microdontia | http://purl.obolibrary.org/obo/MONDO_0012541 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness-oligodontia syndrome | http://purl.obolibrary.org/obo/MONDO_0009089 | http://purl.obolibrary.org/obo/MONDO_0019589 |
high myopia-sensorineural deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0009082 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness-vitiligo-achalasia syndrome | http://purl.obolibrary.org/obo/MONDO_0009085 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness-small bowel diverticulosis-neuropathy syndrome | http://purl.obolibrary.org/obo/MONDO_0009086 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Fraser syndrome | http://purl.obolibrary.org/obo/MONDO_0009046 | http://purl.obolibrary.org/obo/MONDO_0019589 |
corneal dystrophy-perceptive deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0009015 | http://purl.obolibrary.org/obo/MONDO_0019589 |
bilateral microtia-deafness-cleft palate syndrome | http://purl.obolibrary.org/obo/MONDO_0012854 | http://purl.obolibrary.org/obo/MONDO_0019589 |
oculocerebrodental syndrome | http://purl.obolibrary.org/obo/MONDO_0034145 | http://purl.obolibrary.org/obo/MONDO_0019589 |
ermine phenotype | http://purl.obolibrary.org/obo/MONDO_0009196 | http://purl.obolibrary.org/obo/MONDO_0019589 |
orofaciodigital syndrome type 6 | http://purl.obolibrary.org/obo/MONDO_0010176 | http://purl.obolibrary.org/obo/MONDO_0019589 |
ectodermal dysplasia-sensorineural deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0009146 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Pendred syndrome | http://purl.obolibrary.org/obo/MONDO_0010134 | http://purl.obolibrary.org/obo/MONDO_0019589 |
RFT1-CDG | http://purl.obolibrary.org/obo/MONDO_0012783 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Hirschsprung disease-hearing loss-polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009342 | http://purl.obolibrary.org/obo/MONDO_0019589 |
orofaciodigital syndrome VIII | http://purl.obolibrary.org/obo/MONDO_0010336 | http://purl.obolibrary.org/obo/MONDO_0019589 |
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | http://purl.obolibrary.org/obo/MONDO_0010334 | http://purl.obolibrary.org/obo/MONDO_0019589 |
PHARC syndrome | http://purl.obolibrary.org/obo/MONDO_0012984 | http://purl.obolibrary.org/obo/MONDO_0019589 |
bone fragility with contractures, arterial rupture, and deafness | http://purl.obolibrary.org/obo/MONDO_0012892 | http://purl.obolibrary.org/obo/MONDO_0019589 |
fountain syndrome | http://purl.obolibrary.org/obo/MONDO_0009241 | http://purl.obolibrary.org/obo/MONDO_0019589 |
CHIME syndrome | http://purl.obolibrary.org/obo/MONDO_0010221 | http://purl.obolibrary.org/obo/MONDO_0019589 |
albinism-hearing loss syndrome | http://purl.obolibrary.org/obo/MONDO_0010403 | http://purl.obolibrary.org/obo/MONDO_0019589 |
ocular albinism with late-onset sensorineural deafness | http://purl.obolibrary.org/obo/MONDO_0010390 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness-intellectual disability, Martin-Probst type syndrome | http://purl.obolibrary.org/obo/MONDO_0010353 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness dystonia syndrome | http://purl.obolibrary.org/obo/MONDO_0010578 | http://purl.obolibrary.org/obo/MONDO_0019589 |
deafness-hypogonadism syndrome | http://purl.obolibrary.org/obo/MONDO_0010575 | http://purl.obolibrary.org/obo/MONDO_0019589 |
thiamine-responsive megaloblastic anemia syndrome | http://purl.obolibrary.org/obo/MONDO_0009575 | http://purl.obolibrary.org/obo/MONDO_0019589 |
choroideremia-deafness-obesity syndrome | http://purl.obolibrary.org/obo/MONDO_0010558 | http://purl.obolibrary.org/obo/MONDO_0019589 |
autosomal recessive distal renal tubular acidosis | http://purl.obolibrary.org/obo/MONDO_0018440 | http://purl.obolibrary.org/obo/MONDO_0019589 |
renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss | http://purl.obolibrary.org/obo/MONDO_0009968 | http://purl.obolibrary.org/obo/MONDO_0018440 |
cataract-ataxia-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0008928 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0008960 | http://purl.obolibrary.org/obo/MONDO_0019589 |
ataxia - deafness - intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0008838 | http://purl.obolibrary.org/obo/MONDO_0019589 |
atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome | http://purl.obolibrary.org/obo/MONDO_0008843 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Waardenburg syndrome | http://purl.obolibrary.org/obo/MONDO_0018094 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Waardenburg syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0019517 | http://purl.obolibrary.org/obo/MONDO_0018094 |
Waardenburg syndrome type 3 | http://purl.obolibrary.org/obo/MONDO_0007862 | http://purl.obolibrary.org/obo/MONDO_0018094 |
Waardenburg syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0008670 | http://purl.obolibrary.org/obo/MONDO_0018094 |
Alstrom syndrome | http://purl.obolibrary.org/obo/MONDO_0008763 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Wolfram syndrome | http://purl.obolibrary.org/obo/MONDO_0018105 | http://purl.obolibrary.org/obo/MONDO_0019589 |
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | http://purl.obolibrary.org/obo/MONDO_0018002 | http://purl.obolibrary.org/obo/MONDO_0019589 |
hypotrichosis-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0018021 | http://purl.obolibrary.org/obo/MONDO_0019589 |
spastic paraplegia-nephritis-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0008440 | http://purl.obolibrary.org/obo/MONDO_0019589 |
stapes ankylosis with broad thumbs and toes | http://purl.obolibrary.org/obo/MONDO_0008484 | http://purl.obolibrary.org/obo/MONDO_0019589 |
mandibular hypoplasia-deafness-progeroid syndrome | http://purl.obolibrary.org/obo/MONDO_0014157 | http://purl.obolibrary.org/obo/MONDO_0019589 |
dysmorphism-conductive hearing loss-heart defect syndrome | http://purl.obolibrary.org/obo/MONDO_0014044 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Lowe-Kohn-Cohen syndrome | http://purl.obolibrary.org/obo/MONDO_0016568 | http://purl.obolibrary.org/obo/MONDO_0019589 |
progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | http://purl.obolibrary.org/obo/MONDO_0016424 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Alport syndrome | http://purl.obolibrary.org/obo/MONDO_0018965 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Autosomal dominant Alport syndrome | http://www.orpha.net/ORDO/Orphanet_88918 | http://purl.obolibrary.org/obo/MONDO_0018965 |
Autosomal recessive Alport syndrome | http://www.orpha.net/ORDO/Orphanet_88919 | http://purl.obolibrary.org/obo/MONDO_0018965 |
autosomal dominant Alport syndrome | http://purl.obolibrary.org/obo/MONDO_0007086 | http://purl.obolibrary.org/obo/MONDO_0018965 |
X-linked Alport syndrome | http://purl.obolibrary.org/obo/MONDO_0010520 | http://purl.obolibrary.org/obo/MONDO_0018965 |
autosomal recessive Alport syndrome | http://purl.obolibrary.org/obo/MONDO_0008762 | http://purl.obolibrary.org/obo/MONDO_0018965 |
Charcot-Marie-Tooth disease type X | http://purl.obolibrary.org/obo/MONDO_0018994 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Charcot-Marie-Tooth disease X-linked dominant 1 | http://purl.obolibrary.org/obo/MONDO_0010549 | http://purl.obolibrary.org/obo/MONDO_0018994 |
Charcot-Marie-Tooth disease X-linked recessive 3 | http://purl.obolibrary.org/obo/MONDO_0010551 | http://purl.obolibrary.org/obo/MONDO_0018994 |
Charcot-Marie-Tooth disease X-linked recessive 2 | http://purl.obolibrary.org/obo/MONDO_0010550 | http://purl.obolibrary.org/obo/MONDO_0018994 |
Charcot-Marie-Tooth disease X-linked dominant 6 | http://purl.obolibrary.org/obo/MONDO_0010479 | http://purl.obolibrary.org/obo/MONDO_0018994 |
Charcot-Marie-Tooth disease X-linked recessive 4 | http://purl.obolibrary.org/obo/MONDO_0010689 | http://purl.obolibrary.org/obo/MONDO_0018994 |
Charcot-Marie-Tooth disease X-linked recessive 5 | http://purl.obolibrary.org/obo/MONDO_0010699 | http://purl.obolibrary.org/obo/MONDO_0018994 |
xeroderma pigmentosum-Cockayne syndrome complex | http://purl.obolibrary.org/obo/MONDO_0016354 | http://purl.obolibrary.org/obo/MONDO_0019589 |
xeroderma pigmentosum group B | http://purl.obolibrary.org/obo/MONDO_0012531 | http://purl.obolibrary.org/obo/MONDO_0016354 |
xeroderma pigmentosum group F | http://purl.obolibrary.org/obo/MONDO_0010215 | http://purl.obolibrary.org/obo/MONDO_0016354 |
xeroderma pigmentosum group D | http://purl.obolibrary.org/obo/MONDO_0010212 | http://purl.obolibrary.org/obo/MONDO_0016354 |
xeroderma pigmentosum group G | http://purl.obolibrary.org/obo/MONDO_0010216 | http://purl.obolibrary.org/obo/MONDO_0016354 |
branchiootic syndrome | http://purl.obolibrary.org/obo/MONDO_0018878 | http://purl.obolibrary.org/obo/MONDO_0019589 |
hearing impairment and infertile male syndrome | http://purl.obolibrary.org/obo/MONDO_0100069 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Cockayne syndrome | http://purl.obolibrary.org/obo/MONDO_0016006 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Cockayne syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0019570 | http://purl.obolibrary.org/obo/MONDO_0016006 |
Cockayne syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0019569 | http://purl.obolibrary.org/obo/MONDO_0016006 |
Cockayne syndrome type 3 | http://purl.obolibrary.org/obo/MONDO_0008998 | http://purl.obolibrary.org/obo/MONDO_0016006 |
cleft lip/palate-deafness-sacral lipoma syndrome | http://purl.obolibrary.org/obo/MONDO_0016059 | http://purl.obolibrary.org/obo/MONDO_0019589 |
branchiogenic deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0012209 | http://purl.obolibrary.org/obo/MONDO_0019589 |
MEDNIK syndrome | http://purl.obolibrary.org/obo/MONDO_0012251 | http://purl.obolibrary.org/obo/MONDO_0019589 |
PCWH syndrome | http://purl.obolibrary.org/obo/MONDO_0012198 | http://purl.obolibrary.org/obo/MONDO_0019589 |
nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome | http://purl.obolibrary.org/obo/MONDO_0012190 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Lichtenstein-Knorr syndrome | http://purl.obolibrary.org/obo/MONDO_0014572 | http://purl.obolibrary.org/obo/MONDO_0019589 |
mitochondrial myopathy-lactic acidosis-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0016825 | http://purl.obolibrary.org/obo/MONDO_0019589 |
orofaciodigital syndrome type II | http://purl.obolibrary.org/obo/MONDO_0009642 | http://purl.obolibrary.org/obo/MONDO_0019589 |
branchio-oto-renal syndrome | http://purl.obolibrary.org/obo/MONDO_0007029 | http://purl.obolibrary.org/obo/MONDO_0019589 |
N syndrome | http://purl.obolibrary.org/obo/MONDO_0010686 | http://purl.obolibrary.org/obo/MONDO_0019589 |
neurofibromatosis type 2 | http://purl.obolibrary.org/obo/MONDO_0007039 | http://purl.obolibrary.org/obo/MONDO_0019589 |
sensorineural hearing loss-early graying-essential tremor syndrome | http://purl.obolibrary.org/obo/MONDO_0019022 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Norrie disease | http://purl.obolibrary.org/obo/MONDO_0010691 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Johanson-Blizzard syndrome | http://purl.obolibrary.org/obo/MONDO_0009479 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Richards-Rundle syndrome | http://purl.obolibrary.org/obo/MONDO_0009493 | http://purl.obolibrary.org/obo/MONDO_0019589 |
Arts syndrome | http://purl.obolibrary.org/obo/MONDO_0010533 | http://purl.obolibrary.org/obo/MONDO_0019589 |
pseudodiastrophic dysplasia | http://purl.obolibrary.org/obo/MONDO_0009914 | http://purl.obolibrary.org/obo/MONDO_0019755 |
autosomal recessive inherited pseudoxanthoma elasticum | http://purl.obolibrary.org/obo/MONDO_0009925 | http://purl.obolibrary.org/obo/MONDO_0019755 |
microtia | http://purl.obolibrary.org/obo/MONDO_0010920 | http://purl.obolibrary.org/obo/MONDO_0019755 |
urogenital tract malformation | http://purl.obolibrary.org/obo/MONDO_0019356 | http://purl.obolibrary.org/obo/MONDO_0019755 |
non-syndromic urogenital tract malformation | http://purl.obolibrary.org/obo/MONDO_0015619 | http://purl.obolibrary.org/obo/MONDO_0019356 |
non-syndromic urogenital tract malformation of female | http://purl.obolibrary.org/obo/MONDO_0015932 | http://purl.obolibrary.org/obo/MONDO_0015619 |
non-syndromic uterovaginal malformation | http://purl.obolibrary.org/obo/MONDO_0015829 | http://purl.obolibrary.org/obo/MONDO_0015932 |
non-syndromic urogenital tract malformation of male | http://purl.obolibrary.org/obo/MONDO_0015933 | http://purl.obolibrary.org/obo/MONDO_0015619 |
hypospadias | http://www.ebi.ac.uk/efo/EFO_0004209 | http://purl.obolibrary.org/obo/MONDO_0015933 |
congenital bilateral absence of vas deferens | http://purl.obolibrary.org/obo/MONDO_0018801 | http://purl.obolibrary.org/obo/MONDO_0015933 |
congenital bilateral aplasia of vas deferens from CFTR mutation | http://purl.obolibrary.org/obo/MONDO_0010178 | http://purl.obolibrary.org/obo/MONDO_0018801 |
non-syndromic urogenital tract malformation of male and female | http://purl.obolibrary.org/obo/MONDO_0015934 | http://purl.obolibrary.org/obo/MONDO_0015619 |
familial vesicoureteral reflux | http://purl.obolibrary.org/obo/MONDO_0017329 | http://purl.obolibrary.org/obo/MONDO_0015934 |
congenital primary megaureter | http://purl.obolibrary.org/obo/MONDO_0018960 | http://purl.obolibrary.org/obo/MONDO_0015934 |
congenital primary megaureter, obstructed form | http://purl.obolibrary.org/obo/MONDO_0016550 | http://purl.obolibrary.org/obo/MONDO_0018960 |
congenital primary megaureter, nonrefluxing and unobstructed form | http://purl.obolibrary.org/obo/MONDO_0016552 | http://purl.obolibrary.org/obo/MONDO_0018960 |
congenital primary megaureter, refluxing form | http://purl.obolibrary.org/obo/MONDO_0016551 | http://purl.obolibrary.org/obo/MONDO_0018960 |
primary megaureter, adult-onset form | http://purl.obolibrary.org/obo/MONDO_0016549 | http://purl.obolibrary.org/obo/MONDO_0018960 |
duplication of urethra | http://purl.obolibrary.org/obo/MONDO_0016529 | http://purl.obolibrary.org/obo/MONDO_0015934 |
congenital urachal anomaly | http://purl.obolibrary.org/obo/MONDO_0018565 | http://purl.obolibrary.org/obo/MONDO_0015934 |
urachal cyst | http://purl.obolibrary.org/obo/MONDO_0018844 | http://purl.obolibrary.org/obo/MONDO_0018565 |
syndromic urogenital tract malformation | http://purl.obolibrary.org/obo/MONDO_0015620 | http://purl.obolibrary.org/obo/MONDO_0019356 |
megacystis-microcolon-intestinal hypoperistalsis syndrome | http://purl.obolibrary.org/obo/MONDO_0025986 | http://purl.obolibrary.org/obo/MONDO_0015620 |
megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0100354 | http://purl.obolibrary.org/obo/MONDO_0025986 |
megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | http://www.ebi.ac.uk/efo/EFO_0020038 | http://purl.obolibrary.org/obo/MONDO_0025986 |
Schilbach-Rott syndrome | http://purl.obolibrary.org/obo/MONDO_0008113 | http://purl.obolibrary.org/obo/MONDO_0015620 |
faciodigitogenital syndrome | http://purl.obolibrary.org/obo/MONDO_0021005 | http://purl.obolibrary.org/obo/MONDO_0015620 |
autosomal recessive faciodigitogenital syndrome | http://purl.obolibrary.org/obo/MONDO_0009209 | http://purl.obolibrary.org/obo/MONDO_0021005 |
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome | http://purl.obolibrary.org/obo/MONDO_0008357 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Guttmacher syndrome | http://purl.obolibrary.org/obo/MONDO_0008301 | http://purl.obolibrary.org/obo/MONDO_0015620 |
axial mesodermal dysplasia spectrum | http://purl.obolibrary.org/obo/MONDO_0015944 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Mayer-Rokitansky-Kuster-Hauser syndrome | http://purl.obolibrary.org/obo/MONDO_0017771 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Mayer-Rokitansky-Küster-Hauser syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0010989 | http://purl.obolibrary.org/obo/MONDO_0017771 |
Mayer-Rokitansky-Kuster-Hauser syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0010173 | http://purl.obolibrary.org/obo/MONDO_0017771 |
spina bifida-hypospadias syndrome | http://purl.obolibrary.org/obo/MONDO_0017857 | http://purl.obolibrary.org/obo/MONDO_0015620 |
cloacal exstrophy | http://purl.obolibrary.org/obo/MONDO_0009774 | http://purl.obolibrary.org/obo/MONDO_0015620 |
torticollis-keloids-cryptorchidism-renal dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0010748 | http://purl.obolibrary.org/obo/MONDO_0015620 |
neurofaciodigitorenal syndrome | http://purl.obolibrary.org/obo/MONDO_0009740 | http://purl.obolibrary.org/obo/MONDO_0015620 |
cat-eye syndrome | http://purl.obolibrary.org/obo/MONDO_0007276 | http://purl.obolibrary.org/obo/MONDO_0015620 |
lethal hemolytic anemia-genital anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0010891 | http://purl.obolibrary.org/obo/MONDO_0015620 |
renal coloboma syndrome | http://purl.obolibrary.org/obo/MONDO_0007352 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Alagille syndrome | http://purl.obolibrary.org/obo/MONDO_0007318 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Alagille syndrome due to a NOTCH2 point mutation | http://purl.obolibrary.org/obo/MONDO_0012439 | http://purl.obolibrary.org/obo/MONDO_0007318 |
Alagille syndrome due to a JAG1 point mutation | http://purl.obolibrary.org/obo/MONDO_0016862 | http://purl.obolibrary.org/obo/MONDO_0007318 |
Alagille syndrome due to 20p12 microdeletion | http://purl.obolibrary.org/obo/MONDO_0016861 | http://purl.obolibrary.org/obo/MONDO_0007318 |
ARX-related encephalopathy-brain malformation spectrum | http://purl.obolibrary.org/obo/MONDO_0018496 | http://purl.obolibrary.org/obo/MONDO_0015620 |
corpus callosum agenesis-abnormal genitalia syndrome | http://purl.obolibrary.org/obo/MONDO_0010224 | http://purl.obolibrary.org/obo/MONDO_0018496 |
AREDYLD syndrome | http://purl.obolibrary.org/obo/MONDO_0008812 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Elsahy-Waters syndrome | http://purl.obolibrary.org/obo/MONDO_0008885 | http://purl.obolibrary.org/obo/MONDO_0015620 |
trisomy 13 | http://purl.obolibrary.org/obo/MONDO_0018068 | http://purl.obolibrary.org/obo/MONDO_0015620 |
mosaic trisomy 13 | http://purl.obolibrary.org/obo/MONDO_0700034 | http://purl.obolibrary.org/obo/MONDO_0018068 |
trisomy 18 | http://purl.obolibrary.org/obo/MONDO_0018071 | http://purl.obolibrary.org/obo/MONDO_0015620 |
mosaic trisomy 18 | http://purl.obolibrary.org/obo/MONDO_0700031 | http://purl.obolibrary.org/obo/MONDO_0018071 |
aniridia-renal agenesis-psychomotor retardation syndrome | http://purl.obolibrary.org/obo/MONDO_0008796 | http://purl.obolibrary.org/obo/MONDO_0015620 |
double uterus-hemivagina-renal agenesis syndrome | http://purl.obolibrary.org/obo/MONDO_0008636 | http://purl.obolibrary.org/obo/MONDO_0015620 |
VACTERL/vater association | http://purl.obolibrary.org/obo/MONDO_0008642 | http://purl.obolibrary.org/obo/MONDO_0015620 |
VACTERL association, X-linked, with or without hydrocephalus | http://purl.obolibrary.org/obo/MONDO_0010752 | http://purl.obolibrary.org/obo/MONDO_0008642 |
Czeizel-Losonci syndrome | http://purl.obolibrary.org/obo/MONDO_0008467 | http://purl.obolibrary.org/obo/MONDO_0015620 |
holoprosencephaly-radial heart renal anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0008488 | http://purl.obolibrary.org/obo/MONDO_0015620 |
lower limb deficiency-hypospadias syndrome | http://purl.obolibrary.org/obo/MONDO_0016639 | http://purl.obolibrary.org/obo/MONDO_0015620 |
8p23.1 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016658 | http://purl.obolibrary.org/obo/MONDO_0015620 |
stromme syndrome | http://www.ebi.ac.uk/efo/EFO_0009160 | http://purl.obolibrary.org/obo/MONDO_0015620 |
caudal regression-sirenomelia spectrum | http://purl.obolibrary.org/obo/MONDO_0018639 | http://purl.obolibrary.org/obo/MONDO_0015620 |
familial caudal dysgenesis | http://purl.obolibrary.org/obo/MONDO_0010831 | http://purl.obolibrary.org/obo/MONDO_0018639 |
sirenomelia | http://purl.obolibrary.org/obo/MONDO_0017850 | http://purl.obolibrary.org/obo/MONDO_0010831 |
myopathy-growth delay-intellectual disability-hypospadias syndrome | http://purl.obolibrary.org/obo/MONDO_0016827 | http://purl.obolibrary.org/obo/MONDO_0015620 |
prune belly syndrome | http://purl.obolibrary.org/obo/MONDO_0007032 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Abruzzo-Erickson syndrome | http://purl.obolibrary.org/obo/MONDO_0010554 | http://purl.obolibrary.org/obo/MONDO_0015620 |
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0009359 | http://purl.obolibrary.org/obo/MONDO_0015620 |
hypospadias-intellectual disability, Goldblatt type syndrome | http://purl.obolibrary.org/obo/MONDO_0009435 | http://purl.obolibrary.org/obo/MONDO_0015620 |
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome | http://purl.obolibrary.org/obo/MONDO_0009446 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Schinzel-Giedion syndrome | http://purl.obolibrary.org/obo/MONDO_0010010 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Smith-Lemli-Opitz syndrome | http://purl.obolibrary.org/obo/MONDO_0010035 | http://purl.obolibrary.org/obo/MONDO_0015620 |
cataract-nephropathy-encephalopathy syndrome | http://purl.obolibrary.org/obo/MONDO_0009045 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Pallister-Hall syndrome | http://purl.obolibrary.org/obo/MONDO_0007804 | http://purl.obolibrary.org/obo/MONDO_0015620 |
congenital hypothalamic hamartoma syndrome | http://purl.obolibrary.org/obo/MONDO_0009436 | http://purl.obolibrary.org/obo/MONDO_0007804 |
Juberg-Marsidi syndrome | http://purl.obolibrary.org/obo/MONDO_0019776 | http://purl.obolibrary.org/obo/MONDO_0015620 |
mullerian duct anomalies-limb anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0007795 | http://purl.obolibrary.org/obo/MONDO_0015620 |
arthrogryposis-renal dysfunction-cholestasis syndrome | http://purl.obolibrary.org/obo/MONDO_0017123 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Opitz G/BBB syndrome | http://purl.obolibrary.org/obo/MONDO_0017138 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Autosomal dominant Opitz G/BBB syndrome | http://www.orpha.net/ORDO/Orphanet_306588 | http://purl.obolibrary.org/obo/MONDO_0017138 |
autosomal dominant Opitz G/BBB syndrome | http://purl.obolibrary.org/obo/MONDO_0007779 | http://purl.obolibrary.org/obo/MONDO_0017138 |
X-linked Opitz G/BBB syndrome | http://purl.obolibrary.org/obo/MONDO_0010222 | http://purl.obolibrary.org/obo/MONDO_0017138 |
renal cysts and diabetes syndrome | http://purl.obolibrary.org/obo/MONDO_0007669 | http://purl.obolibrary.org/obo/MONDO_0015620 |
48,XYYY syndrome | http://purl.obolibrary.org/obo/MONDO_0020469 | http://purl.obolibrary.org/obo/MONDO_0015620 |
Ulbright-Hodes syndrome | http://purl.obolibrary.org/obo/MONDO_0009963 | http://purl.obolibrary.org/obo/MONDO_0015620 |
exstrophy-epispadias complex | http://purl.obolibrary.org/obo/MONDO_0017919 | http://purl.obolibrary.org/obo/MONDO_0019356 |
bladder exstrophy | http://purl.obolibrary.org/obo/MONDO_0010805 | http://purl.obolibrary.org/obo/MONDO_0017919 |
epispadias | http://purl.obolibrary.org/obo/MONDO_0019759 | http://purl.obolibrary.org/obo/MONDO_0017919 |
syndromic renal or urinary tract malformation | http://purl.obolibrary.org/obo/MONDO_0019721 | http://purl.obolibrary.org/obo/MONDO_0019356 |
caudal regression sequence | http://purl.obolibrary.org/obo/MONDO_0017607 | http://purl.obolibrary.org/obo/MONDO_0019721 |
acrorenal syndrome | http://purl.obolibrary.org/obo/MONDO_0007059 | http://purl.obolibrary.org/obo/MONDO_0019721 |
infundibulopelvic stenosis-multicystic kidney syndrome | http://purl.obolibrary.org/obo/MONDO_0010971 | http://purl.obolibrary.org/obo/MONDO_0019721 |
Thomas syndrome | http://purl.obolibrary.org/obo/MONDO_0018043 | http://purl.obolibrary.org/obo/MONDO_0019721 |
Cerebrorenodigital syndrome | http://purl.obolibrary.org/obo/MONDO_0012257 | http://purl.obolibrary.org/obo/MONDO_0019721 |
8q24.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0014263 | http://purl.obolibrary.org/obo/MONDO_0019721 |
Fibulo-ulnar hypoplasia-renal anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0009233 | http://purl.obolibrary.org/obo/MONDO_0019721 |
thymic-renal-anal-lung dysplasia | http://purl.obolibrary.org/obo/MONDO_0010129 | http://purl.obolibrary.org/obo/MONDO_0019721 |
thyrocerebrorenal syndrome | http://purl.obolibrary.org/obo/MONDO_0010128 | http://purl.obolibrary.org/obo/MONDO_0019721 |
faciocardiorenal syndrome | http://purl.obolibrary.org/obo/MONDO_0009205 | http://purl.obolibrary.org/obo/MONDO_0019721 |
Ochoa syndrome | http://purl.obolibrary.org/obo/MONDO_0000463 | http://purl.obolibrary.org/obo/MONDO_0019721 |
acropectororenal dysplasia | http://purl.obolibrary.org/obo/MONDO_0019840 | http://purl.obolibrary.org/obo/MONDO_0019721 |
oculo-skeletal-renal syndrome | http://purl.obolibrary.org/obo/MONDO_0017126 | http://purl.obolibrary.org/obo/MONDO_0019721 |
renal nutcracker syndrome | http://www.ebi.ac.uk/efo/EFO_1001838 | http://purl.obolibrary.org/obo/MONDO_0019721 |
renal-genital-middle ear anomalies | http://purl.obolibrary.org/obo/MONDO_0009969 | http://purl.obolibrary.org/obo/MONDO_0019721 |
non-syndromic renal or urinary tract malformation | http://purl.obolibrary.org/obo/MONDO_0019720 | http://purl.obolibrary.org/obo/MONDO_0019356 |
multicystic dysplastic kidney | http://purl.obolibrary.org/obo/MONDO_0015988 | http://purl.obolibrary.org/obo/MONDO_0019720 |
unilateral multicystic dysplastic kidney | http://purl.obolibrary.org/obo/MONDO_0019981 | http://purl.obolibrary.org/obo/MONDO_0015988 |
bilateral multicystic dysplastic kidney | http://purl.obolibrary.org/obo/MONDO_0019982 | http://purl.obolibrary.org/obo/MONDO_0015988 |
renal tubular dysgenesis | http://purl.obolibrary.org/obo/MONDO_0017609 | http://purl.obolibrary.org/obo/MONDO_0019720 |
renal tubular dysgenesis of genetic origin | http://purl.obolibrary.org/obo/MONDO_0009970 | http://purl.obolibrary.org/obo/MONDO_0017609 |
medullary sponge kidney | http://purl.obolibrary.org/obo/MONDO_0015268 | http://purl.obolibrary.org/obo/MONDO_0019720 |
renal hypoplasia | http://purl.obolibrary.org/obo/MONDO_0019637 | http://purl.obolibrary.org/obo/MONDO_0019720 |
renal hypoplasia, bilateral | http://purl.obolibrary.org/obo/MONDO_0019980 | http://purl.obolibrary.org/obo/MONDO_0019637 |
renal hypoplasia, unilateral | http://purl.obolibrary.org/obo/MONDO_0019979 | http://purl.obolibrary.org/obo/MONDO_0019637 |
renal dysplasia | http://purl.obolibrary.org/obo/MONDO_0019638 | http://purl.obolibrary.org/obo/MONDO_0019720 |
renal dysplasia, unilateral | http://purl.obolibrary.org/obo/MONDO_0019644 | http://purl.obolibrary.org/obo/MONDO_0019638 |
renal dysplasia, bilateral | http://purl.obolibrary.org/obo/MONDO_0019645 | http://purl.obolibrary.org/obo/MONDO_0019638 |
congenital hydronephrosis | http://purl.obolibrary.org/obo/MONDO_0007741 | http://purl.obolibrary.org/obo/MONDO_0019720 |
renal agenesis | http://purl.obolibrary.org/obo/MONDO_0018470 | http://purl.obolibrary.org/obo/MONDO_0019720 |
bilateral renal agenesis | http://purl.obolibrary.org/obo/MONDO_0015986 | http://purl.obolibrary.org/obo/MONDO_0018470 |
renal agenesis, unilateral | http://purl.obolibrary.org/obo/MONDO_0019636 | http://purl.obolibrary.org/obo/MONDO_0018470 |
renal hypodysplasia/aplasia 1 | http://purl.obolibrary.org/obo/MONDO_0024519 | http://purl.obolibrary.org/obo/MONDO_0018470 |
fetal lower urinary tract obstruction | http://purl.obolibrary.org/obo/MONDO_0018559 | http://purl.obolibrary.org/obo/MONDO_0019356 |
atresia of urethra | http://purl.obolibrary.org/obo/MONDO_0015195 | http://purl.obolibrary.org/obo/MONDO_0018559 |
posterior urethral valve | http://purl.obolibrary.org/obo/MONDO_0019640 | http://purl.obolibrary.org/obo/MONDO_0018559 |
developmental defect of the eye | http://purl.obolibrary.org/obo/MONDO_0020145 | http://purl.obolibrary.org/obo/MONDO_0019755 |
Morning glory syndrome | http://www.orpha.net/ORDO/Orphanet_35737 | http://purl.obolibrary.org/obo/MONDO_0020145 |
Familial ocular anterior segment mesenchymal dysgenesis | http://www.orpha.net/ORDO/Orphanet_88632 | http://purl.obolibrary.org/obo/MONDO_0020145 |
cataract-glaucoma syndrome | http://purl.obolibrary.org/obo/MONDO_0015567 | http://purl.obolibrary.org/obo/MONDO_0020145 |
non-syndromic developmental defect of the eye | http://purl.obolibrary.org/obo/MONDO_0015217 | http://purl.obolibrary.org/obo/MONDO_0020145 |
early-onset non-syndromic cataract | http://purl.obolibrary.org/obo/MONDO_0011060 | http://purl.obolibrary.org/obo/MONDO_0015217 |
Coralliform cataract | http://www.orpha.net/ORDO/Orphanet_98990 | http://purl.obolibrary.org/obo/MONDO_0011060 |
Posterior polar cataract | http://www.orpha.net/ORDO/Orphanet_98993 | http://purl.obolibrary.org/obo/MONDO_0011060 |
Total congenital cataract | http://www.orpha.net/ORDO/Orphanet_98994 | http://purl.obolibrary.org/obo/MONDO_0011060 |
Partial congenital cataract | http://www.orpha.net/ORDO/Orphanet_98992 | http://purl.obolibrary.org/obo/MONDO_0011060 |
Anterior polar cataract | http://www.orpha.net/ORDO/Orphanet_98988 | http://purl.obolibrary.org/obo/MONDO_0011060 |
Pulverulent cataract | http://www.orpha.net/ORDO/Orphanet_98984 | http://purl.obolibrary.org/obo/MONDO_0011060 |
Cataract with Y-shaped suture opacities | http://www.orpha.net/ORDO/Orphanet_98985 | http://purl.obolibrary.org/obo/MONDO_0011060 |
pulverulent cataract | http://purl.obolibrary.org/obo/MONDO_0011430 | http://purl.obolibrary.org/obo/MONDO_0011060 |
cataract 13 with adult I phenotype | http://purl.obolibrary.org/obo/MONDO_0007289 | http://purl.obolibrary.org/obo/MONDO_0011060 |
cataract 8 multiple types | http://purl.obolibrary.org/obo/MONDO_0007280 | http://purl.obolibrary.org/obo/MONDO_0011060 |
early-onset partial cataract | http://purl.obolibrary.org/obo/MONDO_0020377 | http://purl.obolibrary.org/obo/MONDO_0011060 |
early-onset anterior polar cataract | http://purl.obolibrary.org/obo/MONDO_0020373 | http://purl.obolibrary.org/obo/MONDO_0020377 |
cerulean cataract | http://purl.obolibrary.org/obo/MONDO_0020374 | http://purl.obolibrary.org/obo/MONDO_0020377 |
coralliform cataract | http://purl.obolibrary.org/obo/MONDO_0020375 | http://purl.obolibrary.org/obo/MONDO_0020377 |
early-onset zonular cataract | http://purl.obolibrary.org/obo/MONDO_0020379 | http://purl.obolibrary.org/obo/MONDO_0020377 |
cataract 16 multiple types | http://purl.obolibrary.org/obo/MONDO_0013411 | http://purl.obolibrary.org/obo/MONDO_0020379 |
early-onset posterior polar cataract | http://purl.obolibrary.org/obo/MONDO_0020378 | http://purl.obolibrary.org/obo/MONDO_0013411 |
early-onset sutural cataract | http://purl.obolibrary.org/obo/MONDO_0020372 | http://purl.obolibrary.org/obo/MONDO_0020379 |
early-onset nuclear cataract | http://purl.obolibrary.org/obo/MONDO_0020376 | http://purl.obolibrary.org/obo/MONDO_0020379 |
cataract 5 multiple types | http://purl.obolibrary.org/obo/MONDO_0007290 | http://purl.obolibrary.org/obo/MONDO_0011060 |
cataract 33 | http://purl.obolibrary.org/obo/MONDO_0012665 | http://purl.obolibrary.org/obo/MONDO_0011060 |
total early-onset cataract | http://purl.obolibrary.org/obo/MONDO_0021548 | http://purl.obolibrary.org/obo/MONDO_0011060 |
cataract 46 juvenile-onset | http://purl.obolibrary.org/obo/MONDO_0008925 | http://purl.obolibrary.org/obo/MONDO_0011060 |
isolated aniridia | http://purl.obolibrary.org/obo/MONDO_0007119 | http://purl.obolibrary.org/obo/MONDO_0015217 |
X-linked retinoschisis | http://purl.obolibrary.org/obo/MONDO_0010725 | http://purl.obolibrary.org/obo/MONDO_0015217 |
isolated cryptophthalmia | http://purl.obolibrary.org/obo/MONDO_0007410 | http://purl.obolibrary.org/obo/MONDO_0015217 |
partial cryptophthalmia | http://purl.obolibrary.org/obo/MONDO_0020361 | http://purl.obolibrary.org/obo/MONDO_0007410 |
complete cryptophthalmia | http://purl.obolibrary.org/obo/MONDO_0020360 | http://purl.obolibrary.org/obo/MONDO_0007410 |
congenital symblepharon | http://purl.obolibrary.org/obo/MONDO_0020359 | http://purl.obolibrary.org/obo/MONDO_0007410 |
isolated ankyloblepharon filiforme adnatum | http://purl.obolibrary.org/obo/MONDO_0019626 | http://purl.obolibrary.org/obo/MONDO_0015217 |
isolated anophthalmia-microphthalmia syndrome | http://purl.obolibrary.org/obo/MONDO_0016764 | http://purl.obolibrary.org/obo/MONDO_0015217 |
nanophthalmia | http://purl.obolibrary.org/obo/MONDO_0005514 | http://purl.obolibrary.org/obo/MONDO_0016764 |
microphthalmia, isolated, with coloboma | http://purl.obolibrary.org/obo/MONDO_0000170 | http://purl.obolibrary.org/obo/MONDO_0016764 |
Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia | http://www.orpha.net/ORDO/Orphanet_52055 | http://purl.obolibrary.org/obo/MONDO_0020145 |
major induction processes eye anomaly | http://purl.obolibrary.org/obo/MONDO_0020146 | http://purl.obolibrary.org/obo/MONDO_0020145 |
aniridia | http://purl.obolibrary.org/obo/MONDO_0019172 | http://purl.obolibrary.org/obo/MONDO_0020146 |
syndromic aniridia | http://purl.obolibrary.org/obo/MONDO_0020148 | http://purl.obolibrary.org/obo/MONDO_0019172 |
aniridia-ptosis-intellectual disability-familial obesity syndrome | http://purl.obolibrary.org/obo/MONDO_0015198 | http://purl.obolibrary.org/obo/MONDO_0020148 |
aniridia - intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0015199 | http://purl.obolibrary.org/obo/MONDO_0020148 |
aniridia-absent patella syndrome | http://purl.obolibrary.org/obo/MONDO_0007120 | http://purl.obolibrary.org/obo/MONDO_0020148 |
aniridia-cerebellar ataxia-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0008795 | http://purl.obolibrary.org/obo/MONDO_0020148 |
anophthalmia-microphthalmia syndrome | http://purl.obolibrary.org/obo/MONDO_0020147 | http://purl.obolibrary.org/obo/MONDO_0020146 |
Isolated anophthalmia - microphthalmia | http://www.orpha.net/ORDO/Orphanet_2542 | http://purl.obolibrary.org/obo/MONDO_0020147 |
Nanophthalmia | http://www.orpha.net/ORDO/Orphanet_35612 | http://www.orpha.net/ORDO/Orphanet_2542 |
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen | http://www.orpha.net/ORDO/Orphanet_251279 | http://www.orpha.net/ORDO/Orphanet_2542 |
syndromic microphthalmia | http://purl.obolibrary.org/obo/MONDO_0016073 | http://purl.obolibrary.org/obo/MONDO_0020147 |
colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0011145 | http://purl.obolibrary.org/obo/MONDO_0016073 |
microphthalmia with brain and digit anomalies | http://purl.obolibrary.org/obo/MONDO_0011936 | http://purl.obolibrary.org/obo/MONDO_0016073 |
MMEP syndrome | http://purl.obolibrary.org/obo/MONDO_0011045 | http://purl.obolibrary.org/obo/MONDO_0016073 |
Matthew-Wood syndrome | http://purl.obolibrary.org/obo/MONDO_0011010 | http://purl.obolibrary.org/obo/MONDO_0016073 |
syndromic microphthalmia type 5 | http://purl.obolibrary.org/obo/MONDO_0012413 | http://purl.obolibrary.org/obo/MONDO_0016073 |
microphthalmia-brain atrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0012638 | http://purl.obolibrary.org/obo/MONDO_0016073 |
oculoauricular syndrome | http://purl.obolibrary.org/obo/MONDO_0012802 | http://purl.obolibrary.org/obo/MONDO_0016073 |
linear skin defects with multiple congenital anomalies | http://purl.obolibrary.org/obo/MONDO_0010672 | http://purl.obolibrary.org/obo/MONDO_0016073 |
microphthalmia, Lenz type | http://purl.obolibrary.org/obo/MONDO_0018924 | http://purl.obolibrary.org/obo/MONDO_0016073 |
microphthalmia, syndromic 2 | http://purl.obolibrary.org/obo/MONDO_0010261 | http://purl.obolibrary.org/obo/MONDO_0018924 |
anophthalmia/microphthalmia-esophageal atresia syndrome | http://purl.obolibrary.org/obo/MONDO_0008799 | http://purl.obolibrary.org/obo/MONDO_0016073 |
COFS syndrome | http://purl.obolibrary.org/obo/MONDO_0008926 | http://purl.obolibrary.org/obo/MONDO_0016073 |
Syndromic microphthalmia | http://www.orpha.net/ORDO/Orphanet_202948 | http://purl.obolibrary.org/obo/MONDO_0020147 |
Micro syndrome | http://www.orpha.net/ORDO/Orphanet_2510 | http://www.orpha.net/ORDO/Orphanet_202948 |
Microphthalmia with linear skin defects syndrome | http://www.orpha.net/ORDO/Orphanet_2556 | http://www.orpha.net/ORDO/Orphanet_202948 |
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_363741 | http://www.orpha.net/ORDO/Orphanet_202948 |
Syndromic microphthalmia type 5 | http://www.orpha.net/ORDO/Orphanet_178364 | http://www.orpha.net/ORDO/Orphanet_202948 |
Microphthalmia with brain and digit anomalies | http://www.orpha.net/ORDO/Orphanet_139471 | http://www.orpha.net/ORDO/Orphanet_202948 |
Microphthalmia, Lenz type | http://www.orpha.net/ORDO/Orphanet_568 | http://www.orpha.net/ORDO/Orphanet_202948 |
Microphthalmia - ankyloblepharon - intellectual disability | http://www.orpha.net/ORDO/Orphanet_85275 | http://www.orpha.net/ORDO/Orphanet_202948 |
Anophthalmia/microphthalmia - esophageal atresia | http://www.orpha.net/ORDO/Orphanet_77298 | http://www.orpha.net/ORDO/Orphanet_202948 |
Microphthalmia - brain atrophy | http://www.orpha.net/ORDO/Orphanet_77299 | http://www.orpha.net/ORDO/Orphanet_202948 |
Microtia - eye coloboma - imperforation of the nasolacrimal duct | http://www.orpha.net/ORDO/Orphanet_139450 | http://purl.obolibrary.org/obo/MONDO_0020145 |
anterior segment dysgenesis | http://purl.obolibrary.org/obo/MONDO_0019503 | http://purl.obolibrary.org/obo/MONDO_0020145 |
iridogoniodysgenesis | http://purl.obolibrary.org/obo/MONDO_0011119 | http://purl.obolibrary.org/obo/MONDO_0019503 |
congenital microcoria | http://purl.obolibrary.org/obo/MONDO_0007989 | http://purl.obolibrary.org/obo/MONDO_0011119 |
congenital ectropion uveae | http://purl.obolibrary.org/obo/MONDO_0019630 | http://purl.obolibrary.org/obo/MONDO_0011119 |
Rieger anomaly | http://purl.obolibrary.org/obo/MONDO_0019628 | http://purl.obolibrary.org/obo/MONDO_0011119 |
chromosome 6pter-p24 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012948 | http://purl.obolibrary.org/obo/MONDO_0011119 |
Peters anomaly | http://purl.obolibrary.org/obo/MONDO_0011414 | http://purl.obolibrary.org/obo/MONDO_0019503 |
Von Hippel anomaly | http://www.orpha.net/ORDO/Orphanet_98941 | http://purl.obolibrary.org/obo/MONDO_0011414 |
Peters anomaly-cataract syndrome | http://purl.obolibrary.org/obo/MONDO_0015095 | http://purl.obolibrary.org/obo/MONDO_0011414 |
Peters anomaly - cataract | http://www.orpha.net/ORDO/Orphanet_101033 | http://purl.obolibrary.org/obo/MONDO_0011414 |
von Hippel anomaly | http://purl.obolibrary.org/obo/MONDO_0020353 | http://purl.obolibrary.org/obo/MONDO_0011414 |
congenital primary aphakia | http://purl.obolibrary.org/obo/MONDO_0012456 | http://purl.obolibrary.org/obo/MONDO_0019503 |
anterior segment dysgenesis 7 | http://purl.obolibrary.org/obo/MONDO_0010015 | http://purl.obolibrary.org/obo/MONDO_0019503 |
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome | http://purl.obolibrary.org/obo/MONDO_0012739 | http://purl.obolibrary.org/obo/MONDO_0020145 |
Septo-optic dysplasia | http://www.orpha.net/ORDO/Orphanet_3157 | http://purl.obolibrary.org/obo/MONDO_0020145 |
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | http://purl.obolibrary.org/obo/MONDO_0010333 | http://purl.obolibrary.org/obo/MONDO_0020145 |
SRD5A3-CDG | http://purl.obolibrary.org/obo/MONDO_0012885 | http://purl.obolibrary.org/obo/MONDO_0020145 |
Congenital primary aphakia | http://www.orpha.net/ORDO/Orphanet_83461 | http://purl.obolibrary.org/obo/MONDO_0020145 |
oculocerebrofacial syndrome, Kaufman type | http://purl.obolibrary.org/obo/MONDO_0009485 | http://purl.obolibrary.org/obo/MONDO_0020145 |
microcornea-myopic chorioretinal atrophy | http://purl.obolibrary.org/obo/MONDO_0014195 | http://purl.obolibrary.org/obo/MONDO_0020145 |
microcephaly-microcornea syndrome, Seemanova type | http://purl.obolibrary.org/obo/MONDO_0016760 | http://purl.obolibrary.org/obo/MONDO_0020145 |
morning glory syndrome | http://purl.obolibrary.org/obo/MONDO_0018169 | http://purl.obolibrary.org/obo/MONDO_0020145 |
Renal coloboma syndrome | http://www.orpha.net/ORDO/Orphanet_1475 | http://purl.obolibrary.org/obo/MONDO_0020145 |
nevoid basal cell carcinoma syndrome | http://purl.obolibrary.org/obo/MONDO_0007187 | http://purl.obolibrary.org/obo/MONDO_0019755 |
digestive tract malformation | http://purl.obolibrary.org/obo/MONDO_0020019 | http://purl.obolibrary.org/obo/MONDO_0019755 |
gastroduodenal malformation | http://purl.obolibrary.org/obo/MONDO_0019998 | http://purl.obolibrary.org/obo/MONDO_0020019 |
syndromic gastroduodenal malformation | http://purl.obolibrary.org/obo/MONDO_0015210 | http://purl.obolibrary.org/obo/MONDO_0019998 |
non-syndromic gastroduodenal malformation | http://purl.obolibrary.org/obo/MONDO_0015209 | http://purl.obolibrary.org/obo/MONDO_0019998 |
duodenal atresia | http://purl.obolibrary.org/obo/MONDO_0009126 | http://purl.obolibrary.org/obo/MONDO_0015209 |
intestinal malformation | http://purl.obolibrary.org/obo/MONDO_0019999 | http://purl.obolibrary.org/obo/MONDO_0020019 |
non-syndromic intestinal malformation | http://purl.obolibrary.org/obo/MONDO_0015211 | http://purl.obolibrary.org/obo/MONDO_0019999 |
multiple intestinal atresia | http://purl.obolibrary.org/obo/MONDO_0009465 | http://purl.obolibrary.org/obo/MONDO_0015211 |
colonic atresia | http://purl.obolibrary.org/obo/MONDO_0010562 | http://purl.obolibrary.org/obo/MONDO_0015211 |
atresia of small intestine | http://purl.obolibrary.org/obo/MONDO_0009476 | http://purl.obolibrary.org/obo/MONDO_0015211 |
common mesentery | http://purl.obolibrary.org/obo/MONDO_0018962 | http://purl.obolibrary.org/obo/MONDO_0015211 |
digestive duplication | http://purl.obolibrary.org/obo/MONDO_0016531 | http://purl.obolibrary.org/obo/MONDO_0015211 |
congenital short bowel syndrome | http://purl.obolibrary.org/obo/MONDO_0014097 | http://purl.obolibrary.org/obo/MONDO_0015211 |
syndromic intestinal malformation | http://purl.obolibrary.org/obo/MONDO_0015212 | http://purl.obolibrary.org/obo/MONDO_0019999 |
thoraco-abdominal enteric duplication | http://purl.obolibrary.org/obo/MONDO_0015774 | http://purl.obolibrary.org/obo/MONDO_0015212 |
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome | http://purl.obolibrary.org/obo/MONDO_0017400 | http://purl.obolibrary.org/obo/MONDO_0015212 |
diverticulosis of bowel, hernia, and retinal detachment | http://purl.obolibrary.org/obo/MONDO_0009120 | http://purl.obolibrary.org/obo/MONDO_0015212 |
Mowat-Wilson syndrome | http://purl.obolibrary.org/obo/MONDO_0009341 | http://purl.obolibrary.org/obo/MONDO_0015212 |
Mowat-Wilson syndrome due to monosomy 2q22 | http://purl.obolibrary.org/obo/MONDO_0016855 | http://purl.obolibrary.org/obo/MONDO_0009341 |
Mowat-Wilson syndrome due to a ZEB2 point mutation | http://purl.obolibrary.org/obo/MONDO_0016856 | http://purl.obolibrary.org/obo/MONDO_0009341 |
familial intestinal malrotation-facial anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0016583 | http://purl.obolibrary.org/obo/MONDO_0015212 |
umbilical cord ulceration-intestinal atresia syndrome | http://purl.obolibrary.org/obo/MONDO_0018085 | http://purl.obolibrary.org/obo/MONDO_0015212 |
anorectal malformation | http://purl.obolibrary.org/obo/MONDO_0019938 | http://purl.obolibrary.org/obo/MONDO_0020019 |
rectal duplication | http://purl.obolibrary.org/obo/MONDO_0015734 | http://purl.obolibrary.org/obo/MONDO_0019938 |
syndromic anorectal malformation | http://purl.obolibrary.org/obo/MONDO_0015246 | http://purl.obolibrary.org/obo/MONDO_0019938 |
tetrasomy 12p | http://purl.obolibrary.org/obo/MONDO_0011146 | http://purl.obolibrary.org/obo/MONDO_0015246 |
distal monosomy 13q | http://purl.obolibrary.org/obo/MONDO_0011248 | http://purl.obolibrary.org/obo/MONDO_0015246 |
caudal duplication | http://purl.obolibrary.org/obo/MONDO_0011928 | http://purl.obolibrary.org/obo/MONDO_0015246 |
Hirschsprung disease-ganglioneuroblastoma syndrome | http://purl.obolibrary.org/obo/MONDO_0013082 | http://purl.obolibrary.org/obo/MONDO_0015246 |
ring chromosome 13 | http://purl.obolibrary.org/obo/MONDO_0019907 | http://purl.obolibrary.org/obo/MONDO_0015246 |
maternal uniparental disomy of chromosome 16 | http://purl.obolibrary.org/obo/MONDO_0019916 | http://purl.obolibrary.org/obo/MONDO_0015246 |
monosomy 13q34 | http://purl.obolibrary.org/obo/MONDO_0019902 | http://purl.obolibrary.org/obo/MONDO_0015246 |
ankyloblepharon filiforme-imperforate anus syndrome | http://purl.obolibrary.org/obo/MONDO_0015201 | http://purl.obolibrary.org/obo/MONDO_0015246 |
cataract-intellectual disability-anal atresia-urinary defects syndrome | http://purl.obolibrary.org/obo/MONDO_0015324 | http://purl.obolibrary.org/obo/MONDO_0015246 |
6q terminal deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0019164 | http://purl.obolibrary.org/obo/MONDO_0015246 |
VACTERL with hydrocephalus | http://purl.obolibrary.org/obo/MONDO_0010172 | http://purl.obolibrary.org/obo/MONDO_0015246 |
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0009344 | http://purl.obolibrary.org/obo/MONDO_0015246 |
Renpenning syndrome | http://purl.obolibrary.org/obo/MONDO_0010653 | http://purl.obolibrary.org/obo/MONDO_0015246 |
X-linked intellectual disability, Golabi-Ito-Hall type | http://www.orpha.net/ORDO/Orphanet_93947 | http://purl.obolibrary.org/obo/MONDO_0010653 |
Hamel cerebro-palato-cardiac syndrome | http://www.orpha.net/ORDO/Orphanet_93946 | http://purl.obolibrary.org/obo/MONDO_0010653 |
X-linked intellectual disability, Porteous type | http://purl.obolibrary.org/obo/MONDO_0019766 | http://purl.obolibrary.org/obo/MONDO_0010653 |
X-linked intellectual disability, Sutherland-Haan type | http://purl.obolibrary.org/obo/MONDO_0019769 | http://purl.obolibrary.org/obo/MONDO_0010653 |
hamel cerebro-palato-cardiac syndrome | http://purl.obolibrary.org/obo/MONDO_0019767 | http://purl.obolibrary.org/obo/MONDO_0010653 |
X-linked intellectual disability, Golabi-Ito-hall type | http://purl.obolibrary.org/obo/MONDO_0019768 | http://purl.obolibrary.org/obo/MONDO_0010653 |
Goldberg-Shprintzen megacolon syndrome | http://purl.obolibrary.org/obo/MONDO_0012280 | http://purl.obolibrary.org/obo/MONDO_0015246 |
Hirschsprung disease-type D brachydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0016294 | http://purl.obolibrary.org/obo/MONDO_0015246 |
Kabuki syndrome | http://purl.obolibrary.org/obo/MONDO_0016512 | http://purl.obolibrary.org/obo/MONDO_0015246 |
isolated anorectal malformation | http://purl.obolibrary.org/obo/MONDO_0018916 | http://purl.obolibrary.org/obo/MONDO_0019938 |
high anorectal malformation | http://purl.obolibrary.org/obo/MONDO_0015731 | http://purl.obolibrary.org/obo/MONDO_0018916 |
intermediate anorectal malformation | http://purl.obolibrary.org/obo/MONDO_0015732 | http://purl.obolibrary.org/obo/MONDO_0018916 |
low anorectal malformation | http://purl.obolibrary.org/obo/MONDO_0015733 | http://purl.obolibrary.org/obo/MONDO_0018916 |
esophageal malformation | http://purl.obolibrary.org/obo/MONDO_0019513 | http://purl.obolibrary.org/obo/MONDO_0020019 |
non-syndromic esophageal malformation | http://purl.obolibrary.org/obo/MONDO_0015207 | http://purl.obolibrary.org/obo/MONDO_0019513 |
congenital esophageal diverticulum | http://purl.obolibrary.org/obo/MONDO_0019620 | http://purl.obolibrary.org/obo/MONDO_0015207 |
duplication of the esophagus | http://purl.obolibrary.org/obo/MONDO_0019619 | http://purl.obolibrary.org/obo/MONDO_0015207 |
esophageal duplication cyst | http://purl.obolibrary.org/obo/MONDO_0015050 | http://purl.obolibrary.org/obo/MONDO_0019619 |
tubular duplication of the esophagus | http://purl.obolibrary.org/obo/MONDO_0015051 | http://purl.obolibrary.org/obo/MONDO_0019619 |
syndromic esophageal malformation | http://purl.obolibrary.org/obo/MONDO_0015208 | http://purl.obolibrary.org/obo/MONDO_0019513 |
triple-A syndrome | http://purl.obolibrary.org/obo/MONDO_0009279 | http://purl.obolibrary.org/obo/MONDO_0015208 |
achalasia microcephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0008699 | http://purl.obolibrary.org/obo/MONDO_0015208 |
cranial malformation | http://purl.obolibrary.org/obo/MONDO_0020018 | http://purl.obolibrary.org/obo/MONDO_0019755 |
Morgagni-Stewart-Morel syndrome | http://purl.obolibrary.org/obo/MONDO_0007766 | http://purl.obolibrary.org/obo/MONDO_0020018 |
craniofacial dysplasia - osteopenia syndrome | http://purl.obolibrary.org/obo/MONDO_0012634 | http://purl.obolibrary.org/obo/MONDO_0020018 |
craniofacial dyssynostosis | http://purl.obolibrary.org/obo/MONDO_0009034 | http://purl.obolibrary.org/obo/MONDO_0020018 |
craniodiaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0009031 | http://purl.obolibrary.org/obo/MONDO_0020018 |
hypomandibular faciocranial dysostosis | http://purl.obolibrary.org/obo/MONDO_0009425 | http://purl.obolibrary.org/obo/MONDO_0020018 |
chromosomal disorder | http://purl.obolibrary.org/obo/MONDO_0019040 | http://purl.obolibrary.org/obo/MONDO_0019755 |
Prader-Willi syndrome | http://purl.obolibrary.org/obo/MONDO_0008300 | http://purl.obolibrary.org/obo/MONDO_0019040 |
Prader-Willi syndrome due to translocation | http://purl.obolibrary.org/obo/MONDO_0015785 | http://purl.obolibrary.org/obo/MONDO_0008300 |
Prader-Willi syndrome due to imprinting mutation | http://purl.obolibrary.org/obo/MONDO_0015786 | http://purl.obolibrary.org/obo/MONDO_0008300 |
Prader-Willi syndrome due to paternal 15q11q13 deletion | http://purl.obolibrary.org/obo/MONDO_0020301 | http://purl.obolibrary.org/obo/MONDO_0008300 |
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | http://purl.obolibrary.org/obo/MONDO_0015783 | http://purl.obolibrary.org/obo/MONDO_0020301 |
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | http://purl.obolibrary.org/obo/MONDO_0015784 | http://purl.obolibrary.org/obo/MONDO_0020301 |
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | http://purl.obolibrary.org/obo/MONDO_0020298 | http://purl.obolibrary.org/obo/MONDO_0008300 |
Schaaf-Yang syndrome | http://purl.obolibrary.org/obo/MONDO_0014243 | http://purl.obolibrary.org/obo/MONDO_0008300 |
Prader-Willi-like syndrome due to point mutation | http://www.orpha.net/ORDO/Orphanet_398079 | http://purl.obolibrary.org/obo/MONDO_0008300 |
Prader-Willi syndrome due to point mutation | http://www.orpha.net/ORDO/Orphanet_398069 | http://purl.obolibrary.org/obo/MONDO_0008300 |
polyploidy | http://purl.obolibrary.org/obo/MONDO_0019934 | http://purl.obolibrary.org/obo/MONDO_0019040 |
tetraploidy syndrome | http://purl.obolibrary.org/obo/MONDO_0018026 | http://purl.obolibrary.org/obo/MONDO_0019934 |
triploidy | http://purl.obolibrary.org/obo/MONDO_0018067 | http://purl.obolibrary.org/obo/MONDO_0019934 |
autosomal anomaly | http://purl.obolibrary.org/obo/MONDO_0020049 | http://purl.obolibrary.org/obo/MONDO_0019040 |
chromosome 17 disorder | http://purl.obolibrary.org/obo/MONDO_0020583 | http://purl.obolibrary.org/obo/MONDO_0020049 |
mosaic trisomy 17 | http://purl.obolibrary.org/obo/MONDO_0015730 | http://purl.obolibrary.org/obo/MONDO_0020583 |
ring chromosome 17 | http://purl.obolibrary.org/obo/MONDO_0015433 | http://purl.obolibrary.org/obo/MONDO_0020583 |
partial deletion of chromosome 17 | http://purl.obolibrary.org/obo/MONDO_0016879 | http://purl.obolibrary.org/obo/MONDO_0020583 |
chromosome 17p deletion | http://purl.obolibrary.org/obo/MONDO_0022754 | http://purl.obolibrary.org/obo/MONDO_0016879 |
hereditary neuropathy with liability to pressure palsies | http://purl.obolibrary.org/obo/MONDO_0008087 | http://purl.obolibrary.org/obo/MONDO_0022754 |
chromosome 17p13.1 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013415 | http://purl.obolibrary.org/obo/MONDO_0022754 |
distal 17p13.1 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0017867 | http://purl.obolibrary.org/obo/MONDO_0013415 |
distal 17p13.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016839 | http://purl.obolibrary.org/obo/MONDO_0022754 |
Smith-Magenis syndrome | http://purl.obolibrary.org/obo/MONDO_0008434 | http://purl.obolibrary.org/obo/MONDO_0022754 |
partial deletion of the long arm of chromosome 17 | http://purl.obolibrary.org/obo/MONDO_0016915 | http://purl.obolibrary.org/obo/MONDO_0016879 |
chromosome 17q12 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013797 | http://purl.obolibrary.org/obo/MONDO_0016915 |
distal monosomy 17q | http://purl.obolibrary.org/obo/MONDO_0015562 | http://purl.obolibrary.org/obo/MONDO_0016915 |
chromosome 17q23.1-q23.2 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013238 | http://purl.obolibrary.org/obo/MONDO_0016915 |
Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0018216 | http://purl.obolibrary.org/obo/MONDO_0016915 |
partial duplication of chromosome 17 | http://purl.obolibrary.org/obo/MONDO_0016935 | http://purl.obolibrary.org/obo/MONDO_0020583 |
partial duplication of the long arm of chromosome 17 | http://purl.obolibrary.org/obo/MONDO_0016967 | http://purl.obolibrary.org/obo/MONDO_0016935 |
chromosome 17q12 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0013796 | http://purl.obolibrary.org/obo/MONDO_0016967 |
chromosome 17q21.31 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0013298 | http://purl.obolibrary.org/obo/MONDO_0016967 |
17q11.2 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0015350 | http://purl.obolibrary.org/obo/MONDO_0016967 |
distal trisomy 17q | http://purl.obolibrary.org/obo/MONDO_0018069 | http://purl.obolibrary.org/obo/MONDO_0016967 |
partial duplication of the short arm of chromosome 17 | http://purl.obolibrary.org/obo/MONDO_0016950 | http://purl.obolibrary.org/obo/MONDO_0016935 |
chromosome 17p13.3 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0013182 | http://purl.obolibrary.org/obo/MONDO_0016950 |
Charcot-Marie-Tooth disease type 1A | http://purl.obolibrary.org/obo/MONDO_0007309 | http://purl.obolibrary.org/obo/MONDO_0016950 |
Potocki-Lupski syndrome | http://purl.obolibrary.org/obo/MONDO_0012574 | http://purl.obolibrary.org/obo/MONDO_0016950 |
trisomy 17p | http://purl.obolibrary.org/obo/MONDO_0016840 | http://purl.obolibrary.org/obo/MONDO_0016950 |
chromosome 21 disorder | http://purl.obolibrary.org/obo/MONDO_0700124 | http://purl.obolibrary.org/obo/MONDO_0020049 |
maternal uniparental disomy of chromosome 21 | http://purl.obolibrary.org/obo/MONDO_0019918 | http://purl.obolibrary.org/obo/MONDO_0700124 |
paternal uniparental disomy of chromosome 21 | http://purl.obolibrary.org/obo/MONDO_0019925 | http://purl.obolibrary.org/obo/MONDO_0700124 |
ring chromosome 21 | http://purl.obolibrary.org/obo/MONDO_0015437 | http://purl.obolibrary.org/obo/MONDO_0700124 |
tetrasomy 21 | http://purl.obolibrary.org/obo/MONDO_0019864 | http://purl.obolibrary.org/obo/MONDO_0700124 |
Down syndrome | http://www.ebi.ac.uk/efo/EFO_0001064 | http://purl.obolibrary.org/obo/MONDO_0700124 |
monosomy 21 | http://purl.obolibrary.org/obo/MONDO_0018930 | http://purl.obolibrary.org/obo/MONDO_0700124 |
chromosome 18 disorder | http://purl.obolibrary.org/obo/MONDO_0700125 | http://purl.obolibrary.org/obo/MONDO_0020049 |
ring chromosome 18 | http://purl.obolibrary.org/obo/MONDO_0015434 | http://purl.obolibrary.org/obo/MONDO_0700125 |
partial deletion of chromosome 18 | http://purl.obolibrary.org/obo/MONDO_0016880 | http://purl.obolibrary.org/obo/MONDO_0700125 |
chromosome 18q deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0011147 | http://purl.obolibrary.org/obo/MONDO_0016880 |
chromosome 18p deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0007800 | http://purl.obolibrary.org/obo/MONDO_0016880 |
partial trisomy/tetrasomy of chromosome 18 | http://purl.obolibrary.org/obo/MONDO_0016936 | http://purl.obolibrary.org/obo/MONDO_0700125 |
partial trisomy of the long arm of chromosome 18 | http://purl.obolibrary.org/obo/MONDO_0016968 | http://purl.obolibrary.org/obo/MONDO_0016936 |
distal trisomy 18q | http://purl.obolibrary.org/obo/MONDO_0015741 | http://purl.obolibrary.org/obo/MONDO_0016968 |
partial trisomy/tetrasomy of the short arm of chromosome 18 | http://purl.obolibrary.org/obo/MONDO_0016951 | http://purl.obolibrary.org/obo/MONDO_0016936 |
trisomy 18p | http://purl.obolibrary.org/obo/MONDO_0015740 | http://purl.obolibrary.org/obo/MONDO_0016951 |
tetrasomy 18p | http://purl.obolibrary.org/obo/MONDO_0013668 | http://purl.obolibrary.org/obo/MONDO_0016951 |
chromosome 2 disorder | http://purl.obolibrary.org/obo/MONDO_0700009 | http://purl.obolibrary.org/obo/MONDO_0020049 |
mosaic trisomy 2 | http://purl.obolibrary.org/obo/MONDO_0015763 | http://purl.obolibrary.org/obo/MONDO_0700009 |
maternal uniparental disomy of chromosome 2 | http://purl.obolibrary.org/obo/MONDO_0019910 | http://purl.obolibrary.org/obo/MONDO_0700009 |
ring chromosome 2 | http://purl.obolibrary.org/obo/MONDO_0019903 | http://purl.obolibrary.org/obo/MONDO_0700009 |
partial deletion of chromosome 2 | http://purl.obolibrary.org/obo/MONDO_0016867 | http://purl.obolibrary.org/obo/MONDO_0700009 |
partial deletion of the short arm of chromosome 2 | http://purl.obolibrary.org/obo/MONDO_0016884 | http://purl.obolibrary.org/obo/MONDO_0016867 |
chromosome 2p16.1-p15 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012916 | http://purl.obolibrary.org/obo/MONDO_0016884 |
homozygous 2p21 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0018246 | http://purl.obolibrary.org/obo/MONDO_0016884 |
hypotonia-cystinuria syndrome | http://purl.obolibrary.org/obo/MONDO_0011669 | http://purl.obolibrary.org/obo/MONDO_0018246 |
atypical hypotonia-cystinuria syndrome | http://purl.obolibrary.org/obo/MONDO_0016539 | http://purl.obolibrary.org/obo/MONDO_0011669 |
2p21 microdeletion syndrome without cystinuria | http://purl.obolibrary.org/obo/MONDO_0018245 | http://purl.obolibrary.org/obo/MONDO_0018246 |
2p13.2 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0018207 | http://purl.obolibrary.org/obo/MONDO_0016884 |
partial deletion of the long arm of chromosome 2 | http://purl.obolibrary.org/obo/MONDO_0016901 | http://purl.obolibrary.org/obo/MONDO_0016867 |
2p21 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0015583 | http://purl.obolibrary.org/obo/MONDO_0016901 |
2q24 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0015566 | http://purl.obolibrary.org/obo/MONDO_0016901 |
chromosome 2q32-q33 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012864 | http://purl.obolibrary.org/obo/MONDO_0016901 |
2q23.1 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016459 | http://purl.obolibrary.org/obo/MONDO_0016901 |
2q33.1 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016653 | http://purl.obolibrary.org/obo/MONDO_0016901 |
2q31.1 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016652 | http://purl.obolibrary.org/obo/MONDO_0016901 |
partial duplication of chromosome 2 | http://purl.obolibrary.org/obo/MONDO_0016922 | http://purl.obolibrary.org/obo/MONDO_0700009 |
partial duplication of the long arm of chromosome 2 | http://purl.obolibrary.org/obo/MONDO_0016953 | http://purl.obolibrary.org/obo/MONDO_0016922 |
2q23.1 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0017786 | http://purl.obolibrary.org/obo/MONDO_0016953 |
distal trisomy 2q | http://purl.obolibrary.org/obo/MONDO_0019877 | http://purl.obolibrary.org/obo/MONDO_0016953 |
partial duplication of the short arm of chromosome 2 | http://purl.obolibrary.org/obo/MONDO_0016939 | http://purl.obolibrary.org/obo/MONDO_0016922 |
distal trisomy 2p | http://purl.obolibrary.org/obo/MONDO_0019871 | http://purl.obolibrary.org/obo/MONDO_0016939 |
chromosome 1 disorder | http://purl.obolibrary.org/obo/MONDO_0700008 | http://purl.obolibrary.org/obo/MONDO_0020049 |
mosaic trisomy 1 | http://purl.obolibrary.org/obo/MONDO_0015706 | http://purl.obolibrary.org/obo/MONDO_0700008 |
ring chromosome 1 | http://purl.obolibrary.org/obo/MONDO_0015430 | http://purl.obolibrary.org/obo/MONDO_0700008 |
partial deletion of chromosome 1 | http://purl.obolibrary.org/obo/MONDO_0016866 | http://purl.obolibrary.org/obo/MONDO_0700008 |
chromosome 1q deletion | http://purl.obolibrary.org/obo/MONDO_0022756 | http://purl.obolibrary.org/obo/MONDO_0016866 |
chromosome 1q41-q42 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012927 | http://purl.obolibrary.org/obo/MONDO_0022756 |
chromosome 1q21.1 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012914 | http://purl.obolibrary.org/obo/MONDO_0022756 |
1q44 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016561 | http://purl.obolibrary.org/obo/MONDO_0022756 |
distal monosomy 1q | http://purl.obolibrary.org/obo/MONDO_0018205 | http://purl.obolibrary.org/obo/MONDO_0022756 |
partial deletion of the short arm of chromosome 1 | http://purl.obolibrary.org/obo/MONDO_0016883 | http://purl.obolibrary.org/obo/MONDO_0016866 |
chromosome 1p36 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0011929 | http://purl.obolibrary.org/obo/MONDO_0016883 |
chromosome 1p32-p31 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013396 | http://purl.obolibrary.org/obo/MONDO_0016883 |
1p21.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0017405 | http://purl.obolibrary.org/obo/MONDO_0016883 |
partial duplication of chromosome 1 | http://purl.obolibrary.org/obo/MONDO_0016921 | http://purl.obolibrary.org/obo/MONDO_0700008 |
partial duplication of the short arm of chromosome 1 | http://purl.obolibrary.org/obo/MONDO_0017012 | http://purl.obolibrary.org/obo/MONDO_0016921 |
distal trisomy 1p36 | http://purl.obolibrary.org/obo/MONDO_0019870 | http://purl.obolibrary.org/obo/MONDO_0017012 |
partial duplication of the long arm of chromosome 1 | http://purl.obolibrary.org/obo/MONDO_0016952 | http://purl.obolibrary.org/obo/MONDO_0016921 |
chromosome 1q21.1 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0012915 | http://purl.obolibrary.org/obo/MONDO_0016952 |
trisomy 1q | http://purl.obolibrary.org/obo/MONDO_0016847 | http://purl.obolibrary.org/obo/MONDO_0016952 |
maternal uniparental disomy of chromosome 1 | http://purl.obolibrary.org/obo/MONDO_0016651 | http://purl.obolibrary.org/obo/MONDO_0700008 |
paternal uniparental disomy of chromosome 1 | http://purl.obolibrary.org/obo/MONDO_0016650 | http://purl.obolibrary.org/obo/MONDO_0700008 |
chromosome 5 disorder | http://purl.obolibrary.org/obo/MONDO_0700012 | http://purl.obolibrary.org/obo/MONDO_0020049 |
paternal uniparental disomy of chromosome 5 | http://purl.obolibrary.org/obo/MONDO_0019920 | http://purl.obolibrary.org/obo/MONDO_0700012 |
mosaic trisomy 5 | http://purl.obolibrary.org/obo/MONDO_0019866 | http://purl.obolibrary.org/obo/MONDO_0700012 |
partial deletion of chromosome 5 | http://purl.obolibrary.org/obo/MONDO_0016870 | http://purl.obolibrary.org/obo/MONDO_0700012 |
partial deletion of the short arm of chromosome 5 | http://purl.obolibrary.org/obo/MONDO_0016887 | http://purl.obolibrary.org/obo/MONDO_0016870 |
Cri-du-chat syndrome | http://purl.obolibrary.org/obo/MONDO_0007404 | http://purl.obolibrary.org/obo/MONDO_0016887 |
partial deletion of the long arm of chromosome 5 | http://purl.obolibrary.org/obo/MONDO_0016904 | http://purl.obolibrary.org/obo/MONDO_0016870 |
deletion 5q35 | http://purl.obolibrary.org/obo/MONDO_0015571 | http://purl.obolibrary.org/obo/MONDO_0016904 |
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | http://purl.obolibrary.org/obo/MONDO_0017811 | http://purl.obolibrary.org/obo/MONDO_0016904 |
Sotos syndrome | http://purl.obolibrary.org/obo/MONDO_0019349 | http://purl.obolibrary.org/obo/MONDO_0016904 |
Malan overgrowth syndrome | http://purl.obolibrary.org/obo/MONDO_0013885 | http://purl.obolibrary.org/obo/MONDO_0019349 |
5q14.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016456 | http://purl.obolibrary.org/obo/MONDO_0016904 |
partial trisomy/tetrasomy of chromosome 5 | http://purl.obolibrary.org/obo/MONDO_0016925 | http://purl.obolibrary.org/obo/MONDO_0700012 |
partial trisomy of the long arm of chromosome 5 | http://purl.obolibrary.org/obo/MONDO_0016956 | http://purl.obolibrary.org/obo/MONDO_0016925 |
adult-onset autosomal dominant demyelinating leukodystrophy | http://purl.obolibrary.org/obo/MONDO_0008215 | http://purl.obolibrary.org/obo/MONDO_0016956 |
distal trisomy 5q | http://purl.obolibrary.org/obo/MONDO_0019880 | http://purl.obolibrary.org/obo/MONDO_0016956 |
5q35 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0016461 | http://purl.obolibrary.org/obo/MONDO_0016956 |
partial trisomy/tetrasomy of the short arm of chromosome 5 | http://purl.obolibrary.org/obo/MONDO_0016942 | http://purl.obolibrary.org/obo/MONDO_0016925 |
chromosome 5p13 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0013169 | http://purl.obolibrary.org/obo/MONDO_0016942 |
trisomy 5p | http://purl.obolibrary.org/obo/MONDO_0015768 | http://purl.obolibrary.org/obo/MONDO_0016942 |
tetrasomy 5p | http://purl.obolibrary.org/obo/MONDO_0018028 | http://purl.obolibrary.org/obo/MONDO_0016942 |
ring chromosome 5 | http://purl.obolibrary.org/obo/MONDO_0016654 | http://purl.obolibrary.org/obo/MONDO_0700012 |
chromosome 6 disorder | http://purl.obolibrary.org/obo/MONDO_0700013 | http://purl.obolibrary.org/obo/MONDO_0020049 |
paternal uniparental disomy of chromosome 6 | http://purl.obolibrary.org/obo/MONDO_0019921 | http://purl.obolibrary.org/obo/MONDO_0700013 |
maternal uniparental disomy of chromosome 6 | http://purl.obolibrary.org/obo/MONDO_0019912 | http://purl.obolibrary.org/obo/MONDO_0700013 |
ring chromosome 6 | http://purl.obolibrary.org/obo/MONDO_0015440 | http://purl.obolibrary.org/obo/MONDO_0700013 |
partial deletion of chromosome 6 | http://purl.obolibrary.org/obo/MONDO_0016871 | http://purl.obolibrary.org/obo/MONDO_0700013 |
partial deletion of the short arm of chromosome 6 | http://purl.obolibrary.org/obo/MONDO_0016888 | http://purl.obolibrary.org/obo/MONDO_0016871 |
6p22 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016655 | http://purl.obolibrary.org/obo/MONDO_0016888 |
partial deletion of the long arm of chromosome 6 | http://purl.obolibrary.org/obo/MONDO_0016905 | http://purl.obolibrary.org/obo/MONDO_0016871 |
chromosome 6q24-q25 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013025 | http://purl.obolibrary.org/obo/MONDO_0016905 |
6q16 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0015749 | http://purl.obolibrary.org/obo/MONDO_0016905 |
partial duplication of chromosome 6 | http://purl.obolibrary.org/obo/MONDO_0016927 | http://purl.obolibrary.org/obo/MONDO_0700013 |
partial duplication of the long arm of chromosome 6 | http://purl.obolibrary.org/obo/MONDO_0016957 | http://purl.obolibrary.org/obo/MONDO_0016927 |
distal trisomy 6q | http://purl.obolibrary.org/obo/MONDO_0019881 | http://purl.obolibrary.org/obo/MONDO_0016957 |
partial duplication of the short arm of chromosome 6 | http://purl.obolibrary.org/obo/MONDO_0016943 | http://purl.obolibrary.org/obo/MONDO_0016927 |
distal trisomy 6p | http://purl.obolibrary.org/obo/MONDO_0015769 | http://purl.obolibrary.org/obo/MONDO_0016943 |
chromosome 3 disorder | http://purl.obolibrary.org/obo/MONDO_0700010 | http://purl.obolibrary.org/obo/MONDO_0020049 |
ring chromosome 3 | http://purl.obolibrary.org/obo/MONDO_0019904 | http://purl.obolibrary.org/obo/MONDO_0700010 |
mosaic trisomy 3 | http://purl.obolibrary.org/obo/MONDO_0015060 | http://purl.obolibrary.org/obo/MONDO_0700010 |
partial deletion of chromosome 3 | http://purl.obolibrary.org/obo/MONDO_0016868 | http://purl.obolibrary.org/obo/MONDO_0700010 |
partial deletion of the short arm of chromosome 3 | http://purl.obolibrary.org/obo/MONDO_0016885 | http://purl.obolibrary.org/obo/MONDO_0016868 |
3p- syndrome | http://purl.obolibrary.org/obo/MONDO_0013424 | http://purl.obolibrary.org/obo/MONDO_0016885 |
partial deletion of the long arm of chromosome 3 | http://purl.obolibrary.org/obo/MONDO_0016902 | http://purl.obolibrary.org/obo/MONDO_0016868 |
blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome | http://purl.obolibrary.org/obo/MONDO_0016857 | http://purl.obolibrary.org/obo/MONDO_0016902 |
chromosome 3q29 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012269 | http://purl.obolibrary.org/obo/MONDO_0016902 |
chromosome 3q13.31 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0014185 | http://purl.obolibrary.org/obo/MONDO_0016902 |
3q26q27 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0018156 | http://purl.obolibrary.org/obo/MONDO_0016902 |
3q27.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0018341 | http://purl.obolibrary.org/obo/MONDO_0016902 |
partial duplication of chromosome 3 | http://purl.obolibrary.org/obo/MONDO_0016923 | http://purl.obolibrary.org/obo/MONDO_0700010 |
partial duplication of the long arm of chromosome 3 | http://purl.obolibrary.org/obo/MONDO_0016954 | http://purl.obolibrary.org/obo/MONDO_0016923 |
3q26 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0019878 | http://purl.obolibrary.org/obo/MONDO_0016954 |
chromosome 3q29 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0012761 | http://purl.obolibrary.org/obo/MONDO_0016954 |
partial duplication of the short arm of chromosome 3 | http://purl.obolibrary.org/obo/MONDO_0016940 | http://purl.obolibrary.org/obo/MONDO_0016923 |
distal trisomy 3p | http://purl.obolibrary.org/obo/MONDO_0019872 | http://purl.obolibrary.org/obo/MONDO_0016940 |
chromosome 4 disorder | http://purl.obolibrary.org/obo/MONDO_0700011 | http://purl.obolibrary.org/obo/MONDO_0020049 |
maternal uniparental disomy of chromosome 4 | http://purl.obolibrary.org/obo/MONDO_0019911 | http://purl.obolibrary.org/obo/MONDO_0700011 |
ring chromosome 4 | http://purl.obolibrary.org/obo/MONDO_0015439 | http://purl.obolibrary.org/obo/MONDO_0700011 |
mosaic trisomy 4 | http://purl.obolibrary.org/obo/MONDO_0019865 | http://purl.obolibrary.org/obo/MONDO_0700011 |
partial deletion of chromosome 4 | http://purl.obolibrary.org/obo/MONDO_0016869 | http://purl.obolibrary.org/obo/MONDO_0700011 |
chromosome 4 short arm deletion | http://purl.obolibrary.org/obo/MONDO_0022762 | http://purl.obolibrary.org/obo/MONDO_0016869 |
Wolf-Hirschhorn syndrome | http://purl.obolibrary.org/obo/MONDO_0008684 | http://purl.obolibrary.org/obo/MONDO_0022762 |
partial deletion of the long arm of chromosome 4 | http://purl.obolibrary.org/obo/MONDO_0016903 | http://purl.obolibrary.org/obo/MONDO_0016869 |
chromosome 4q21 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013292 | http://purl.obolibrary.org/obo/MONDO_0016903 |
distal monosomy 4q | http://purl.obolibrary.org/obo/MONDO_0019895 | http://purl.obolibrary.org/obo/MONDO_0016903 |
partial duplication of chromosome 4 | http://purl.obolibrary.org/obo/MONDO_0016924 | http://purl.obolibrary.org/obo/MONDO_0700011 |
partial duplication of the long arm of chromosome 4 | http://purl.obolibrary.org/obo/MONDO_0016955 | http://purl.obolibrary.org/obo/MONDO_0016924 |
distal trisomy 4q | http://purl.obolibrary.org/obo/MONDO_0019879 | http://purl.obolibrary.org/obo/MONDO_0016955 |
partial duplication of the short arm of chromosome 4 | http://purl.obolibrary.org/obo/MONDO_0016941 | http://purl.obolibrary.org/obo/MONDO_0016924 |
trisomy 4p | http://purl.obolibrary.org/obo/MONDO_0015767 | http://purl.obolibrary.org/obo/MONDO_0016941 |
4p16.3 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0019873 | http://purl.obolibrary.org/obo/MONDO_0016941 |
chromosome 9 disorder | http://purl.obolibrary.org/obo/MONDO_0700016 | http://purl.obolibrary.org/obo/MONDO_0020049 |
maternal uniparental disomy of chromosome 9 | http://purl.obolibrary.org/obo/MONDO_0019914 | http://purl.obolibrary.org/obo/MONDO_0700016 |
ring chromosome 9 | http://purl.obolibrary.org/obo/MONDO_0019905 | http://purl.obolibrary.org/obo/MONDO_0700016 |
mosaic trisomy 9 | http://purl.obolibrary.org/obo/MONDO_0020490 | http://purl.obolibrary.org/obo/MONDO_0700016 |
partial deletion of chromosome 9 | http://purl.obolibrary.org/obo/MONDO_0016874 | http://purl.obolibrary.org/obo/MONDO_0700016 |
chromosome 9p deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0008013 | http://purl.obolibrary.org/obo/MONDO_0016874 |
9p13 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0017928 | http://purl.obolibrary.org/obo/MONDO_0008013 |
partial monosomy of the long arm of chromosome 9 | http://purl.obolibrary.org/obo/MONDO_0016908 | http://purl.obolibrary.org/obo/MONDO_0016874 |
monosomy 9q22.3 | http://purl.obolibrary.org/obo/MONDO_0019179 | http://purl.obolibrary.org/obo/MONDO_0016908 |
Kleefstra syndrome due to 9q34 microdeletion | http://purl.obolibrary.org/obo/MONDO_0019896 | http://purl.obolibrary.org/obo/MONDO_0016908 |
9q31.1q31.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0018428 | http://purl.obolibrary.org/obo/MONDO_0016908 |
partial trisomy/tetrasomy of chromosome 9 | http://purl.obolibrary.org/obo/MONDO_0016930 | http://purl.obolibrary.org/obo/MONDO_0700016 |
partial trisomy of the long arm of chromosome 9 | http://purl.obolibrary.org/obo/MONDO_0016960 | http://purl.obolibrary.org/obo/MONDO_0016930 |
non-distal trisomy 9q | http://purl.obolibrary.org/obo/MONDO_0019890 | http://purl.obolibrary.org/obo/MONDO_0016960 |
distal trisomy 9q | http://purl.obolibrary.org/obo/MONDO_0019883 | http://purl.obolibrary.org/obo/MONDO_0016960 |
syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 | http://purl.obolibrary.org/obo/MONDO_0700043 | http://purl.obolibrary.org/obo/MONDO_0016930 |
trisomy 9p | http://purl.obolibrary.org/obo/MONDO_0016526 | http://purl.obolibrary.org/obo/MONDO_0700043 |
tetrasomy 9p | http://purl.obolibrary.org/obo/MONDO_0018030 | http://purl.obolibrary.org/obo/MONDO_0700043 |
chromosome 10 disorder | http://purl.obolibrary.org/obo/MONDO_0700017 | http://purl.obolibrary.org/obo/MONDO_0020049 |
ring chromosome 10 | http://purl.obolibrary.org/obo/MONDO_0015431 | http://purl.obolibrary.org/obo/MONDO_0700017 |
mosaic trisomy 10 | http://purl.obolibrary.org/obo/MONDO_0019868 | http://purl.obolibrary.org/obo/MONDO_0700017 |
partial deletion of chromosome 10 | http://purl.obolibrary.org/obo/MONDO_0016875 | http://purl.obolibrary.org/obo/MONDO_0700017 |
partial deletion of the short arm of chromosome 10 | http://purl.obolibrary.org/obo/MONDO_0016892 | http://purl.obolibrary.org/obo/MONDO_0016875 |
distal monosomy 10p | http://purl.obolibrary.org/obo/MONDO_0011055 | http://purl.obolibrary.org/obo/MONDO_0016892 |
facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | http://purl.obolibrary.org/obo/MONDO_0017283 | http://purl.obolibrary.org/obo/MONDO_0016892 |
partial monosomy of the long arm of chromosome 10 | http://purl.obolibrary.org/obo/MONDO_0016909 | http://purl.obolibrary.org/obo/MONDO_0016875 |
non-distal monosomy 10q | http://purl.obolibrary.org/obo/MONDO_0015546 | http://purl.obolibrary.org/obo/MONDO_0016909 |
chromosome 10q23 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012830 | http://purl.obolibrary.org/obo/MONDO_0016909 |
distal 10q deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012315 | http://purl.obolibrary.org/obo/MONDO_0016909 |
partial duplication of chromosome 10 | http://purl.obolibrary.org/obo/MONDO_0016931 | http://purl.obolibrary.org/obo/MONDO_0700017 |
partial duplication of the long arm of chromosome 10 | http://purl.obolibrary.org/obo/MONDO_0016961 | http://purl.obolibrary.org/obo/MONDO_0016931 |
non-distal trisomy 10q | http://purl.obolibrary.org/obo/MONDO_0015712 | http://purl.obolibrary.org/obo/MONDO_0016961 |
10q22.3q23.3 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0017180 | http://purl.obolibrary.org/obo/MONDO_0016961 |
distal trisomy 10q | http://purl.obolibrary.org/obo/MONDO_0019884 | http://purl.obolibrary.org/obo/MONDO_0016961 |
partial duplication of the short arm of chromosome 10 | http://purl.obolibrary.org/obo/MONDO_0016947 | http://purl.obolibrary.org/obo/MONDO_0016931 |
trisomy 10p | http://purl.obolibrary.org/obo/MONDO_0015761 | http://purl.obolibrary.org/obo/MONDO_0016947 |
chromosome 7 disorder | http://purl.obolibrary.org/obo/MONDO_0700014 | http://purl.obolibrary.org/obo/MONDO_0020049 |
mosaic trisomy 7 | http://purl.obolibrary.org/obo/MONDO_0015771 | http://purl.obolibrary.org/obo/MONDO_0700014 |
paternal uniparental disomy of chromosome 7 | http://purl.obolibrary.org/obo/MONDO_0019922 | http://purl.obolibrary.org/obo/MONDO_0700014 |
silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | http://purl.obolibrary.org/obo/MONDO_0019913 | http://purl.obolibrary.org/obo/MONDO_0700014 |
ring chromosome 7 | http://purl.obolibrary.org/obo/MONDO_0015441 | http://purl.obolibrary.org/obo/MONDO_0700014 |
partial deletion of chromosome 7 | http://purl.obolibrary.org/obo/MONDO_0016872 | http://purl.obolibrary.org/obo/MONDO_0700014 |
partial deletion of the short arm of chromosome 7 | http://purl.obolibrary.org/obo/MONDO_0016889 | http://purl.obolibrary.org/obo/MONDO_0016872 |
distal monosomy 7p | http://purl.obolibrary.org/obo/MONDO_0019892 | http://purl.obolibrary.org/obo/MONDO_0016889 |
partial deletion of the long arm of chromosome 7 | http://purl.obolibrary.org/obo/MONDO_0016906 | http://purl.obolibrary.org/obo/MONDO_0016872 |
distal monosomy 7q36 | http://purl.obolibrary.org/obo/MONDO_0015580 | http://purl.obolibrary.org/obo/MONDO_0016906 |
distal 7q11.23 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013393 | http://purl.obolibrary.org/obo/MONDO_0016906 |
7q31 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016656 | http://purl.obolibrary.org/obo/MONDO_0016906 |
Williams syndrome | http://purl.obolibrary.org/obo/MONDO_0008678 | http://purl.obolibrary.org/obo/MONDO_0016906 |
partial duplication of chromosome 7 | http://purl.obolibrary.org/obo/MONDO_0016928 | http://purl.obolibrary.org/obo/MONDO_0700014 |
partial duplication of the long arm of chromosome 7 | http://purl.obolibrary.org/obo/MONDO_0016958 | http://purl.obolibrary.org/obo/MONDO_0016928 |
7q11.23 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0012342 | http://purl.obolibrary.org/obo/MONDO_0016958 |
distal 7q11.23 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0016832 | http://purl.obolibrary.org/obo/MONDO_0012342 |
partial duplication of the short arm of chromosome 7 | http://purl.obolibrary.org/obo/MONDO_0016944 | http://purl.obolibrary.org/obo/MONDO_0016928 |
7p22.1 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0017792 | http://purl.obolibrary.org/obo/MONDO_0016944 |
distal trisomy 7p | http://purl.obolibrary.org/obo/MONDO_0019874 | http://purl.obolibrary.org/obo/MONDO_0016944 |
silver-Russell syndrome due to 7p11.2p13 microduplication | http://purl.obolibrary.org/obo/MONDO_0016479 | http://purl.obolibrary.org/obo/MONDO_0016944 |
chromosome 8 disorder | http://purl.obolibrary.org/obo/MONDO_0700015 | http://purl.obolibrary.org/obo/MONDO_0020049 |
chromosome 8-derived supernumerary ring/marker | http://purl.obolibrary.org/obo/MONDO_0015443 | http://purl.obolibrary.org/obo/MONDO_0700015 |
8p inverted duplication/deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0019876 | http://purl.obolibrary.org/obo/MONDO_0700015 |
partial deletion of chromosome 8 | http://purl.obolibrary.org/obo/MONDO_0016873 | http://purl.obolibrary.org/obo/MONDO_0700015 |
partial deletion of the short arm of chromosome 8 | http://purl.obolibrary.org/obo/MONDO_0016890 | http://purl.obolibrary.org/obo/MONDO_0016873 |
8p11.2 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016657 | http://purl.obolibrary.org/obo/MONDO_0016890 |
partial deletion of the long arm of chromosome 8 | http://purl.obolibrary.org/obo/MONDO_0016907 | http://purl.obolibrary.org/obo/MONDO_0016873 |
8q22.1 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0011977 | http://purl.obolibrary.org/obo/MONDO_0016907 |
chromosome 8q21.11 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013646 | http://purl.obolibrary.org/obo/MONDO_0016907 |
partial duplication of chromosome 8 | http://purl.obolibrary.org/obo/MONDO_0016929 | http://purl.obolibrary.org/obo/MONDO_0700015 |
partial duplication of the long arm of chromosome 8 | http://purl.obolibrary.org/obo/MONDO_0016959 | http://purl.obolibrary.org/obo/MONDO_0016929 |
trisomy 8q | http://purl.obolibrary.org/obo/MONDO_0015772 | http://purl.obolibrary.org/obo/MONDO_0016959 |
distal trisomy 8q | http://purl.obolibrary.org/obo/MONDO_0019882 | http://purl.obolibrary.org/obo/MONDO_0016959 |
8q12 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0016458 | http://purl.obolibrary.org/obo/MONDO_0016959 |
partial duplication of the short arm of chromosome 8 | http://purl.obolibrary.org/obo/MONDO_0016945 | http://purl.obolibrary.org/obo/MONDO_0016929 |
trisomy 8p | http://purl.obolibrary.org/obo/MONDO_0017013 | http://purl.obolibrary.org/obo/MONDO_0016945 |
8p23.1 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0016659 | http://purl.obolibrary.org/obo/MONDO_0016945 |
chromosome 8, trisomy | http://purl.obolibrary.org/obo/MONDO_0043452 | http://purl.obolibrary.org/obo/MONDO_0700015 |
mosaic trisomy 8 | http://purl.obolibrary.org/obo/MONDO_0019867 | http://purl.obolibrary.org/obo/MONDO_0043452 |
chromosome 11 disorder | http://purl.obolibrary.org/obo/MONDO_0700018 | http://purl.obolibrary.org/obo/MONDO_0020049 |
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 | http://purl.obolibrary.org/obo/MONDO_0019923 | http://purl.obolibrary.org/obo/MONDO_0700018 |
ring chromosome 11 | http://purl.obolibrary.org/obo/MONDO_0019906 | http://purl.obolibrary.org/obo/MONDO_0700018 |
partial deletion of chromosome 11 | http://purl.obolibrary.org/obo/MONDO_0016876 | http://purl.obolibrary.org/obo/MONDO_0700018 |
partial deletion of the short arm of chromosome 11 | http://purl.obolibrary.org/obo/MONDO_0016893 | http://purl.obolibrary.org/obo/MONDO_0016876 |
Potocki-Shaffer syndrome | http://purl.obolibrary.org/obo/MONDO_0011022 | http://purl.obolibrary.org/obo/MONDO_0016893 |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | http://purl.obolibrary.org/obo/MONDO_0016477 | http://purl.obolibrary.org/obo/MONDO_0016893 |
partial deletion of the long arm of chromosome 11 | http://purl.obolibrary.org/obo/MONDO_0016910 | http://purl.obolibrary.org/obo/MONDO_0016876 |
otodental syndrome | http://purl.obolibrary.org/obo/MONDO_0008161 | http://purl.obolibrary.org/obo/MONDO_0016910 |
oculootodental syndrome | http://purl.obolibrary.org/obo/MONDO_0020494 | http://purl.obolibrary.org/obo/MONDO_0016910 |
Jacobsen syndrome | http://purl.obolibrary.org/obo/MONDO_0007838 | http://purl.obolibrary.org/obo/MONDO_0016910 |
Paris-Trousseau thrombocytopenia | http://purl.obolibrary.org/obo/MONDO_0008557 | http://purl.obolibrary.org/obo/MONDO_0016910 |
partial duplication of chromosome 11 | http://purl.obolibrary.org/obo/MONDO_0016932 | http://purl.obolibrary.org/obo/MONDO_0700018 |
chromosome 11q trisomy | http://purl.obolibrary.org/obo/MONDO_0022173 | http://purl.obolibrary.org/obo/MONDO_0016932 |
microtriplication 11q24.1 | http://purl.obolibrary.org/obo/MONDO_0017335 | http://purl.obolibrary.org/obo/MONDO_0022173 |
distal trisomy 11q | http://purl.obolibrary.org/obo/MONDO_0019885 | http://purl.obolibrary.org/obo/MONDO_0022173 |
partial duplication of the short arm of chromosome 11 | http://purl.obolibrary.org/obo/MONDO_0016948 | http://purl.obolibrary.org/obo/MONDO_0016932 |
11p15.4 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0017580 | http://purl.obolibrary.org/obo/MONDO_0016948 |
Beckwith-Wiedemann syndrome due to 11p15 microduplication | http://purl.obolibrary.org/obo/MONDO_0019875 | http://purl.obolibrary.org/obo/MONDO_0016948 |
silver-Russell syndrome due to 11p15 microduplication | http://purl.obolibrary.org/obo/MONDO_0016481 | http://purl.obolibrary.org/obo/MONDO_0016948 |
silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 | http://purl.obolibrary.org/obo/MONDO_0016482 | http://purl.obolibrary.org/obo/MONDO_0700018 |
chromosome 12 disorder | http://purl.obolibrary.org/obo/MONDO_0700019 | http://purl.obolibrary.org/obo/MONDO_0020049 |
mosaic trisomy 12 | http://purl.obolibrary.org/obo/MONDO_0015718 | http://purl.obolibrary.org/obo/MONDO_0700019 |
partial duplication of chromosome 12 | http://purl.obolibrary.org/obo/MONDO_0042968 | http://purl.obolibrary.org/obo/MONDO_0700019 |
partial trisomy/tetrasomy of the short arm of chromosome 12 | http://purl.obolibrary.org/obo/MONDO_0016933 | http://purl.obolibrary.org/obo/MONDO_0042968 |
trisomy 12p | http://purl.obolibrary.org/obo/MONDO_0015723 | http://purl.obolibrary.org/obo/MONDO_0016933 |
ring chromosome 12 | http://purl.obolibrary.org/obo/MONDO_0015432 | http://purl.obolibrary.org/obo/MONDO_0700019 |
partial deletion of chromosome 12 | http://purl.obolibrary.org/obo/MONDO_0017277 | http://purl.obolibrary.org/obo/MONDO_0700019 |
chromosome 12p deletion | http://purl.obolibrary.org/obo/MONDO_0022174 | http://purl.obolibrary.org/obo/MONDO_0017277 |
12p12.1 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0017781 | http://purl.obolibrary.org/obo/MONDO_0022174 |
distal monosomy 12p | http://purl.obolibrary.org/obo/MONDO_0017229 | http://purl.obolibrary.org/obo/MONDO_0022174 |
partial deletion of the long arm of chromosome 12 | http://purl.obolibrary.org/obo/MONDO_0016877 | http://purl.obolibrary.org/obo/MONDO_0017277 |
12q15q21.1 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0017334 | http://purl.obolibrary.org/obo/MONDO_0016877 |
non-distal monosomy 12q | http://purl.obolibrary.org/obo/MONDO_0019900 | http://purl.obolibrary.org/obo/MONDO_0016877 |
12q14 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0019784 | http://purl.obolibrary.org/obo/MONDO_0016877 |
distal monosomy 12q | http://purl.obolibrary.org/obo/MONDO_0019897 | http://purl.obolibrary.org/obo/MONDO_0016877 |
chromosome 13 disorder | http://purl.obolibrary.org/obo/MONDO_0700020 | http://purl.obolibrary.org/obo/MONDO_0020049 |
maternal uniparental disomy of chromosome 13 | http://purl.obolibrary.org/obo/MONDO_0019994 | http://purl.obolibrary.org/obo/MONDO_0700020 |
paternal uniparental disomy of chromosome 13 | http://purl.obolibrary.org/obo/MONDO_0020468 | http://purl.obolibrary.org/obo/MONDO_0700020 |
partial duplication of chromosome 13 | http://purl.obolibrary.org/obo/MONDO_0700029 | http://purl.obolibrary.org/obo/MONDO_0700020 |
chromosome 13q trisomy | http://purl.obolibrary.org/obo/MONDO_0022177 | http://purl.obolibrary.org/obo/MONDO_0700029 |
non-distal trisomy 13q | http://purl.obolibrary.org/obo/MONDO_0015724 | http://purl.obolibrary.org/obo/MONDO_0022177 |
distal trisomy 13q | http://purl.obolibrary.org/obo/MONDO_0019886 | http://purl.obolibrary.org/obo/MONDO_0022177 |
chromosome 16 disorder | http://purl.obolibrary.org/obo/MONDO_0700023 | http://purl.obolibrary.org/obo/MONDO_0020049 |
ring chromosome 16 | http://purl.obolibrary.org/obo/MONDO_0019909 | http://purl.obolibrary.org/obo/MONDO_0700023 |
chromosome 16 trisomy | http://purl.obolibrary.org/obo/MONDO_0022180 | http://purl.obolibrary.org/obo/MONDO_0700023 |
mosaic trisomy 16 | http://purl.obolibrary.org/obo/MONDO_0015729 | http://purl.obolibrary.org/obo/MONDO_0022180 |
partial deletion of chromosome 16 | http://purl.obolibrary.org/obo/MONDO_0016878 | http://purl.obolibrary.org/obo/MONDO_0700023 |
partial deletion of the short arm of chromosome 16 | http://purl.obolibrary.org/obo/MONDO_0016894 | http://purl.obolibrary.org/obo/MONDO_0016878 |
distal 16p11.2 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013267 | http://purl.obolibrary.org/obo/MONDO_0016894 |
chromosome 16p12.2-p11.2 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013320 | http://purl.obolibrary.org/obo/MONDO_0016894 |
autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis | http://purl.obolibrary.org/obo/MONDO_0010856 | http://purl.obolibrary.org/obo/MONDO_0016894 |
chromosome 16p12.1 deletion syndrome, 520kb | http://purl.obolibrary.org/obo/MONDO_0007631 | http://purl.obolibrary.org/obo/MONDO_0016894 |
alpha thalassemia-intellectual disability syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0007716 | http://purl.obolibrary.org/obo/MONDO_0016894 |
proximal 16p11.2 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012756 | http://purl.obolibrary.org/obo/MONDO_0016894 |
16p13.11 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016836 | http://purl.obolibrary.org/obo/MONDO_0016894 |
Hao-Fountain syndrome | http://purl.obolibrary.org/obo/MONDO_0014805 | http://purl.obolibrary.org/obo/MONDO_0016894 |
partial deletion of the long arm of chromosome 16 | http://purl.obolibrary.org/obo/MONDO_0016914 | http://purl.obolibrary.org/obo/MONDO_0016878 |
16q24.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016838 | http://purl.obolibrary.org/obo/MONDO_0016914 |
16q24.1 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0018127 | http://purl.obolibrary.org/obo/MONDO_0016914 |
partial duplication of chromosome 16 | http://purl.obolibrary.org/obo/MONDO_0016934 | http://purl.obolibrary.org/obo/MONDO_0700023 |
partial trisomy of the long arm of chromosome 16 | http://purl.obolibrary.org/obo/MONDO_0016966 | http://purl.obolibrary.org/obo/MONDO_0016934 |
distal trisomy 16q | http://purl.obolibrary.org/obo/MONDO_0019887 | http://purl.obolibrary.org/obo/MONDO_0016966 |
partial duplication of the short arm of chromosome 16 | http://purl.obolibrary.org/obo/MONDO_0016949 | http://purl.obolibrary.org/obo/MONDO_0016934 |
chromosome 16p11.2 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0013847 | http://purl.obolibrary.org/obo/MONDO_0016949 |
congenital cataracts-facial dysmorphism-neuropathy syndrome | http://purl.obolibrary.org/obo/MONDO_0011402 | http://purl.obolibrary.org/obo/MONDO_0016949 |
chromosome 16p13.3 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0013273 | http://purl.obolibrary.org/obo/MONDO_0016949 |
16p13.11 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0016837 | http://purl.obolibrary.org/obo/MONDO_0016949 |
16p11.2p12.2 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0016834 | http://purl.obolibrary.org/obo/MONDO_0016949 |
chromosome 19 disorder | http://purl.obolibrary.org/obo/MONDO_0700024 | http://purl.obolibrary.org/obo/MONDO_0020049 |
ring chromosome 19 | http://purl.obolibrary.org/obo/MONDO_0015435 | http://purl.obolibrary.org/obo/MONDO_0700024 |
partial deletion of chromosome 19 | http://purl.obolibrary.org/obo/MONDO_0016881 | http://purl.obolibrary.org/obo/MONDO_0700024 |
partial deletion of the short arm of chromosome 19 | http://purl.obolibrary.org/obo/MONDO_0016897 | http://purl.obolibrary.org/obo/MONDO_0016881 |
chromosome 19p13.13 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013336 | http://purl.obolibrary.org/obo/MONDO_0016897 |
distal monosomy 19p13.3 | http://purl.obolibrary.org/obo/MONDO_0019893 | http://purl.obolibrary.org/obo/MONDO_0016897 |
19p13.12 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016765 | http://purl.obolibrary.org/obo/MONDO_0016897 |
partial deletion of the long arm of chromosome 19 | http://purl.obolibrary.org/obo/MONDO_0016917 | http://purl.obolibrary.org/obo/MONDO_0016881 |
chromosome 19q13.11 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013090 | http://purl.obolibrary.org/obo/MONDO_0016917 |
partial duplication of chromosome 19 | http://purl.obolibrary.org/obo/MONDO_0016937 | http://purl.obolibrary.org/obo/MONDO_0700024 |
partial duplication of the long arm of chromosome 19 | http://purl.obolibrary.org/obo/MONDO_0016969 | http://purl.obolibrary.org/obo/MONDO_0016937 |
distal trisomy 19q | http://purl.obolibrary.org/obo/MONDO_0015744 | http://purl.obolibrary.org/obo/MONDO_0016969 |
chromosome 14 disorder | http://purl.obolibrary.org/obo/MONDO_0700021 | http://purl.obolibrary.org/obo/MONDO_0020049 |
paternal uniparental disomy of chromosome 14 | http://purl.obolibrary.org/obo/MONDO_0011975 | http://purl.obolibrary.org/obo/MONDO_0700021 |
mosaic trisomy 14 | http://purl.obolibrary.org/obo/MONDO_0015725 | http://purl.obolibrary.org/obo/MONDO_0700021 |
maternal uniparental disomy of chromosome 14 | http://purl.obolibrary.org/obo/MONDO_0019915 | http://purl.obolibrary.org/obo/MONDO_0700021 |
ring chromosome 14 | http://purl.obolibrary.org/obo/MONDO_0014708 | http://purl.obolibrary.org/obo/MONDO_0700021 |
chromosome 15 disorder | http://purl.obolibrary.org/obo/MONDO_0700022 | http://purl.obolibrary.org/obo/MONDO_0020049 |
mosaic trisomy 15 | http://purl.obolibrary.org/obo/MONDO_0015727 | http://purl.obolibrary.org/obo/MONDO_0700022 |
ring chromosome 15 | http://purl.obolibrary.org/obo/MONDO_0019908 | http://purl.obolibrary.org/obo/MONDO_0700022 |
Angelman syndrome due to paternal uniparental disomy of chromosome 15 | http://purl.obolibrary.org/obo/MONDO_0020303 | http://purl.obolibrary.org/obo/MONDO_0700022 |
chromosome 20 disorder | http://purl.obolibrary.org/obo/MONDO_0700025 | http://purl.obolibrary.org/obo/MONDO_0020049 |
paternal uniparental disomy of chromosome 20 | http://purl.obolibrary.org/obo/MONDO_0019924 | http://purl.obolibrary.org/obo/MONDO_0700025 |
maternal uniparental disomy of chromosome 20 | http://purl.obolibrary.org/obo/MONDO_0019917 | http://purl.obolibrary.org/obo/MONDO_0700025 |
ring chromosome 20 | http://purl.obolibrary.org/obo/MONDO_0015436 | http://purl.obolibrary.org/obo/MONDO_0700025 |
chromosome 20 trisomy | http://purl.obolibrary.org/obo/MONDO_0022757 | http://purl.obolibrary.org/obo/MONDO_0700025 |
mosaic trisomy 20 | http://purl.obolibrary.org/obo/MONDO_0015764 | http://purl.obolibrary.org/obo/MONDO_0022757 |
partial deletion of chromosome 20 | http://purl.obolibrary.org/obo/MONDO_0016882 | http://purl.obolibrary.org/obo/MONDO_0700025 |
partial monosomy of the short arm of chromosome 20 | http://purl.obolibrary.org/obo/MONDO_0016898 | http://purl.obolibrary.org/obo/MONDO_0016882 |
20p13 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0017780 | http://purl.obolibrary.org/obo/MONDO_0016898 |
20p12.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016841 | http://purl.obolibrary.org/obo/MONDO_0016898 |
partial deletion of the long arm of chromosome 20 | http://purl.obolibrary.org/obo/MONDO_0016918 | http://purl.obolibrary.org/obo/MONDO_0016882 |
non-distal monosomy 20q | http://purl.obolibrary.org/obo/MONDO_0019901 | http://purl.obolibrary.org/obo/MONDO_0016918 |
distal monosomy 20q | http://purl.obolibrary.org/obo/MONDO_0019899 | http://purl.obolibrary.org/obo/MONDO_0016918 |
20q13.33 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016843 | http://purl.obolibrary.org/obo/MONDO_0016918 |
paternal 20q13.2q13.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016842 | http://purl.obolibrary.org/obo/MONDO_0016918 |
partial trisomy of chromosome 20 | http://purl.obolibrary.org/obo/MONDO_0016938 | http://purl.obolibrary.org/obo/MONDO_0700025 |
trisomy 20p | http://purl.obolibrary.org/obo/MONDO_0016844 | http://purl.obolibrary.org/obo/MONDO_0016938 |
partial trisomy of the long arm of chromosome 20 | http://purl.obolibrary.org/obo/MONDO_0016970 | http://purl.obolibrary.org/obo/MONDO_0016938 |
distal trisomy 20q | http://purl.obolibrary.org/obo/MONDO_0019888 | http://purl.obolibrary.org/obo/MONDO_0016970 |
20q11.2 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0018204 | http://purl.obolibrary.org/obo/MONDO_0016970 |
chromosome 22 disorder | http://purl.obolibrary.org/obo/MONDO_0700026 | http://purl.obolibrary.org/obo/MONDO_0020049 |
maternal uniparental disomy of chromosome 22 | http://purl.obolibrary.org/obo/MONDO_0019919 | http://purl.obolibrary.org/obo/MONDO_0700026 |
ring chromosome 22 | http://purl.obolibrary.org/obo/MONDO_0015438 | http://purl.obolibrary.org/obo/MONDO_0700026 |
trisomy 22 | http://purl.obolibrary.org/obo/MONDO_0022759 | http://purl.obolibrary.org/obo/MONDO_0700026 |
mosaic trisomy 22 | http://purl.obolibrary.org/obo/MONDO_0019869 | http://purl.obolibrary.org/obo/MONDO_0022759 |
monosomy 22 | http://purl.obolibrary.org/obo/MONDO_0019891 | http://purl.obolibrary.org/obo/MONDO_0700026 |
gonosome anomaly | http://purl.obolibrary.org/obo/MONDO_0020058 | http://purl.obolibrary.org/obo/MONDO_0019040 |
chromosome X disorder | http://purl.obolibrary.org/obo/MONDO_0700027 | http://purl.obolibrary.org/obo/MONDO_0020058 |
X small rings | http://purl.obolibrary.org/obo/MONDO_0019926 | http://purl.obolibrary.org/obo/MONDO_0700027 |
pentasomy X | http://purl.obolibrary.org/obo/MONDO_0015228 | http://purl.obolibrary.org/obo/MONDO_0700027 |
tetrasomy X | http://purl.obolibrary.org/obo/MONDO_0019525 | http://purl.obolibrary.org/obo/MONDO_0700027 |
partial deletion of chromosome X | http://purl.obolibrary.org/obo/MONDO_0017003 | http://purl.obolibrary.org/obo/MONDO_0700027 |
partial monosomy of the short arm of chromosome X | http://purl.obolibrary.org/obo/MONDO_0017004 | http://purl.obolibrary.org/obo/MONDO_0017003 |
Xp22.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0015606 | http://purl.obolibrary.org/obo/MONDO_0017004 |
chromosome Xp21 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0010399 | http://purl.obolibrary.org/obo/MONDO_0017004 |
X-linked intellectual disability-retinitis pigmentosa syndrome | http://purl.obolibrary.org/obo/MONDO_0010364 | http://purl.obolibrary.org/obo/MONDO_0017004 |
atypical Norrie disease due to monosomy Xp11.3 | http://purl.obolibrary.org/obo/MONDO_0016850 | http://purl.obolibrary.org/obo/MONDO_0017004 |
partial deletion of the long arm of chromosome X | http://purl.obolibrary.org/obo/MONDO_0017007 | http://purl.obolibrary.org/obo/MONDO_0017003 |
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | http://purl.obolibrary.org/obo/MONDO_0010263 | http://purl.obolibrary.org/obo/MONDO_0017007 |
X-linked diffuse leiomyomatosis-Alport syndrome | http://purl.obolibrary.org/obo/MONDO_0010641 | http://purl.obolibrary.org/obo/MONDO_0017007 |
partial duplication of chromosome X | http://purl.obolibrary.org/obo/MONDO_0017008 | http://purl.obolibrary.org/obo/MONDO_0700027 |
partial duplication of the long arm of chromosome X | http://purl.obolibrary.org/obo/MONDO_0017010 | http://purl.obolibrary.org/obo/MONDO_0017008 |
Xq12-q13.3 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0017794 | http://purl.obolibrary.org/obo/MONDO_0017010 |
syndromic X-linked intellectual disability Lubs type | http://purl.obolibrary.org/obo/MONDO_0010283 | http://purl.obolibrary.org/obo/MONDO_0017010 |
chromosome Xq28 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0010436 | http://purl.obolibrary.org/obo/MONDO_0010283 |
distal Xq28 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0017404 | http://purl.obolibrary.org/obo/MONDO_0010436 |
Xq27.3q28 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0010467 | http://purl.obolibrary.org/obo/MONDO_0017010 |
partial duplication of the short arm of chromosome X | http://purl.obolibrary.org/obo/MONDO_0017009 | http://purl.obolibrary.org/obo/MONDO_0017008 |
Xp22.13p22.2 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0017284 | http://purl.obolibrary.org/obo/MONDO_0017009 |
chromosome Xp11.23-p11.22 duplication syndrome | http://purl.obolibrary.org/obo/MONDO_0010428 | http://purl.obolibrary.org/obo/MONDO_0017009 |
maternal uniparental disomy of chromosome X | http://purl.obolibrary.org/obo/MONDO_0016851 | http://purl.obolibrary.org/obo/MONDO_0700027 |
49,XXXYY syndrome | http://purl.obolibrary.org/obo/MONDO_0016854 | http://purl.obolibrary.org/obo/MONDO_0700027 |
paternal uniparental disomy of chromosome X | http://purl.obolibrary.org/obo/MONDO_0016852 | http://purl.obolibrary.org/obo/MONDO_0700027 |
trisomy X | http://purl.obolibrary.org/obo/MONDO_0018066 | http://purl.obolibrary.org/obo/MONDO_0700027 |
chromosome Y disorder | http://purl.obolibrary.org/obo/MONDO_0700028 | http://purl.obolibrary.org/obo/MONDO_0020058 |
partial chromosome Y deletion | http://purl.obolibrary.org/obo/MONDO_0015607 | http://purl.obolibrary.org/obo/MONDO_0700028 |
isochromosome Y | http://purl.obolibrary.org/obo/MONDO_0019935 | http://purl.obolibrary.org/obo/MONDO_0700028 |
isochromosomy Yp | http://purl.obolibrary.org/obo/MONDO_0020304 | http://purl.obolibrary.org/obo/MONDO_0019935 |
isochromosomy Yq | http://purl.obolibrary.org/obo/MONDO_0020305 | http://purl.obolibrary.org/obo/MONDO_0019935 |
47,XYY syndrome | http://purl.obolibrary.org/obo/MONDO_0019339 | http://purl.obolibrary.org/obo/MONDO_0700028 |
49,XYYYY syndrome | http://purl.obolibrary.org/obo/MONDO_0020470 | http://purl.obolibrary.org/obo/MONDO_0700028 |
ring chromosome Y | http://purl.obolibrary.org/obo/MONDO_0016853 | http://purl.obolibrary.org/obo/MONDO_0700028 |
syndrome caused by partial chromosomal deletion | http://purl.obolibrary.org/obo/MONDO_0000761 | http://purl.obolibrary.org/obo/MONDO_0019040 |
chromosome 22q deletion | http://purl.obolibrary.org/obo/MONDO_0022760 | http://purl.obolibrary.org/obo/MONDO_0000761 |
Phelan-McDermid syndrome | http://purl.obolibrary.org/obo/MONDO_0011652 | http://purl.obolibrary.org/obo/MONDO_0022760 |
partial deletion of the long arm of chromosome 21 | http://purl.obolibrary.org/obo/MONDO_0016919 | http://purl.obolibrary.org/obo/MONDO_0000761 |
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | http://purl.obolibrary.org/obo/MONDO_0017056 | http://purl.obolibrary.org/obo/MONDO_0016919 |
21q22.11q22.12 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016845 | http://purl.obolibrary.org/obo/MONDO_0016919 |
partial deletion of the long arm of chromosome 15 | http://purl.obolibrary.org/obo/MONDO_0016913 | http://purl.obolibrary.org/obo/MONDO_0000761 |
chromosome 15q24 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013256 | http://purl.obolibrary.org/obo/MONDO_0016913 |
Angelman syndrome due to maternal 15q11q13 deletion | http://purl.obolibrary.org/obo/MONDO_0020302 | http://purl.obolibrary.org/obo/MONDO_0016913 |
chromosome 15q13.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012774 | http://purl.obolibrary.org/obo/MONDO_0016913 |
chromosome 15q26-qter deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0012964 | http://purl.obolibrary.org/obo/MONDO_0016913 |
chromosome 15q11.2 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0014294 | http://purl.obolibrary.org/obo/MONDO_0016913 |
15q14 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0014822 | http://purl.obolibrary.org/obo/MONDO_0016913 |
partial deletion of the long arm of chromosome 14 | http://purl.obolibrary.org/obo/MONDO_0016912 | http://purl.obolibrary.org/obo/MONDO_0000761 |
chromosome 14q11-q22 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013272 | http://purl.obolibrary.org/obo/MONDO_0016912 |
distal monosomy 14q | http://purl.obolibrary.org/obo/MONDO_0019898 | http://purl.obolibrary.org/obo/MONDO_0016912 |
14q12 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016833 | http://purl.obolibrary.org/obo/MONDO_0016912 |
Frias syndrome | http://purl.obolibrary.org/obo/MONDO_0012324 | http://purl.obolibrary.org/obo/MONDO_0016912 |
paternal 14q32.2 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016780 | http://purl.obolibrary.org/obo/MONDO_0016912 |
14q24.1q24.3 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0018429 | http://purl.obolibrary.org/obo/MONDO_0016912 |
partial deletion of the long arm of chromosome 13 | http://purl.obolibrary.org/obo/MONDO_0016911 | http://purl.obolibrary.org/obo/MONDO_0000761 |
chromosome 13q14 deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0013481 | http://purl.obolibrary.org/obo/MONDO_0016911 |
syndrome caused by partial chromosomal duplication | http://purl.obolibrary.org/obo/MONDO_0000762 | http://purl.obolibrary.org/obo/MONDO_0019040 |
partial duplication of the long arm of chromosome 22 | http://purl.obolibrary.org/obo/MONDO_0016972 | http://purl.obolibrary.org/obo/MONDO_0000762 |
distal trisomy 22q | http://purl.obolibrary.org/obo/MONDO_0019889 | http://purl.obolibrary.org/obo/MONDO_0016972 |
chromosome 22q11.2 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0012020 | http://purl.obolibrary.org/obo/MONDO_0016972 |
distal 22q11.2 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0016846 | http://purl.obolibrary.org/obo/MONDO_0012020 |
partial duplication of the long arm of chromosome 15 | http://purl.obolibrary.org/obo/MONDO_0016965 | http://purl.obolibrary.org/obo/MONDO_0000762 |
15q overgrowth syndrome | http://purl.obolibrary.org/obo/MONDO_0017806 | http://purl.obolibrary.org/obo/MONDO_0016965 |
distal tetrasomy 15q | http://purl.obolibrary.org/obo/MONDO_0013918 | http://purl.obolibrary.org/obo/MONDO_0017806 |
Distal tetrasomy 15q | http://www.orpha.net/ORDO/Orphanet_314588 | http://purl.obolibrary.org/obo/MONDO_0017806 |
distal trisomy 15q | http://purl.obolibrary.org/obo/MONDO_0015728 | http://purl.obolibrary.org/obo/MONDO_0017806 |
Distal trisomy 15q | http://www.orpha.net/ORDO/Orphanet_1707 | http://purl.obolibrary.org/obo/MONDO_0017806 |
15q11q13 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0012081 | http://purl.obolibrary.org/obo/MONDO_0016965 |
partial duplication of the long arm of chromosome 14 | http://purl.obolibrary.org/obo/MONDO_0016964 | http://purl.obolibrary.org/obo/MONDO_0000762 |
distal trisomy 14q | http://purl.obolibrary.org/obo/MONDO_0015726 | http://purl.obolibrary.org/obo/MONDO_0016964 |
14q11.2 microduplication syndrome | http://purl.obolibrary.org/obo/MONDO_0016835 | http://purl.obolibrary.org/obo/MONDO_0016964 |
Tetragametic chimerism | http://www.orpha.net/ORDO/Orphanet_199310 | http://purl.obolibrary.org/obo/MONDO_0019040 |
Silver-Russell syndrome | http://purl.obolibrary.org/obo/MONDO_0008394 | http://purl.obolibrary.org/obo/MONDO_0019040 |
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | http://www.orpha.net/ORDO/Orphanet_96182 | http://purl.obolibrary.org/obo/MONDO_0008394 |
Silver-Russell syndrome due to 7p11.2p13 microduplication | http://www.orpha.net/ORDO/Orphanet_231137 | http://purl.obolibrary.org/obo/MONDO_0008394 |
Silver-Russell syndrome due to imprinting defect of 11p15 | http://www.orpha.net/ORDO/Orphanet_231140 | http://purl.obolibrary.org/obo/MONDO_0008394 |
Silver-Russell syndrome due to 11p15 microduplication | http://www.orpha.net/ORDO/Orphanet_231144 | http://purl.obolibrary.org/obo/MONDO_0008394 |
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 | http://www.orpha.net/ORDO/Orphanet_231147 | http://purl.obolibrary.org/obo/MONDO_0008394 |
silver-russell syndrome 4 | http://purl.obolibrary.org/obo/MONDO_0030118 | http://purl.obolibrary.org/obo/MONDO_0008394 |
Silver-Russell syndrome 5 | http://purl.obolibrary.org/obo/MONDO_0020795 | http://purl.obolibrary.org/obo/MONDO_0008394 |
silver-Russell syndrome due to an imprinting defect of 11p15 | http://purl.obolibrary.org/obo/MONDO_0016480 | http://purl.obolibrary.org/obo/MONDO_0008394 |
Silver-Russell syndrome due to a point mutation | http://www.orpha.net/ORDO/Orphanet_397590 | http://purl.obolibrary.org/obo/MONDO_0008394 |
aneuploidy | http://purl.obolibrary.org/obo/MONDO_0700064 | http://purl.obolibrary.org/obo/MONDO_0019040 |
tetrasomy | http://purl.obolibrary.org/obo/MONDO_0030502 | http://purl.obolibrary.org/obo/MONDO_0700064 |
monosomy | http://purl.obolibrary.org/obo/MONDO_0020639 | http://purl.obolibrary.org/obo/MONDO_0700064 |
trisomy | http://purl.obolibrary.org/obo/MONDO_0700065 | http://purl.obolibrary.org/obo/MONDO_0700064 |
pentasomy | http://purl.obolibrary.org/obo/MONDO_0700085 | http://purl.obolibrary.org/obo/MONDO_0700064 |
X chromosome number anomaly with female phenotype | http://www.orpha.net/ORDO/Orphanet_263717 | http://purl.obolibrary.org/obo/MONDO_0700064 |
Polysomy of X chromosome | http://www.orpha.net/ORDO/Orphanet_263723 | http://www.orpha.net/ORDO/Orphanet_263717 |
Tetrasomy X | http://www.orpha.net/ORDO/Orphanet_9 | http://www.orpha.net/ORDO/Orphanet_263723 |
Trisomy X | http://www.orpha.net/ORDO/Orphanet_3375 | http://www.orpha.net/ORDO/Orphanet_263723 |
Pentasomy X | http://www.orpha.net/ORDO/Orphanet_11 | http://www.orpha.net/ORDO/Orphanet_263723 |
X chromosome number anomaly with male phenotype | http://www.orpha.net/ORDO/Orphanet_263720 | http://purl.obolibrary.org/obo/MONDO_0700064 |
uniparental disomy | http://purl.obolibrary.org/obo/MONDO_0700086 | http://purl.obolibrary.org/obo/MONDO_0019040 |
mosaic genome-wide paternal uniparental disomy | http://purl.obolibrary.org/obo/MONDO_0018007 | http://purl.obolibrary.org/obo/MONDO_0700086 |
ring chromosome disorder | http://purl.obolibrary.org/obo/MONDO_0700091 | http://purl.obolibrary.org/obo/MONDO_0019040 |
multiple congenital anomalies/dysmorphic syndrome | http://purl.obolibrary.org/obo/MONDO_0019042 | http://purl.obolibrary.org/obo/MONDO_0019755 |
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0015160 | http://purl.obolibrary.org/obo/MONDO_0019042 |
short stature-heart defect-craniofacial anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0015206 | http://purl.obolibrary.org/obo/MONDO_0015160 |
genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0043007 | http://purl.obolibrary.org/obo/MONDO_0015160 |
Marshall-Smith syndrome | http://purl.obolibrary.org/obo/MONDO_0011244 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Mobius syndrome | http://purl.obolibrary.org/obo/MONDO_0008006 | http://purl.obolibrary.org/obo/MONDO_0043007 |
oculodentodigital dysplasia | http://purl.obolibrary.org/obo/MONDO_0008111 | http://purl.obolibrary.org/obo/MONDO_0043007 |
PHACE syndrome | http://purl.obolibrary.org/obo/MONDO_0011676 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Noonan syndrome-like disorder with loose anagen hair | http://purl.obolibrary.org/obo/MONDO_0011899 | http://purl.obolibrary.org/obo/MONDO_0043007 |
combined immunodeficiency with faciooculoskeletal anomalies | http://purl.obolibrary.org/obo/MONDO_0013226 | http://purl.obolibrary.org/obo/MONDO_0043007 |
autosomal dominant primary microcephaly | http://purl.obolibrary.org/obo/MONDO_0007988 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Robinow-like syndrome | http://purl.obolibrary.org/obo/MONDO_0017770 | http://purl.obolibrary.org/obo/MONDO_0043007 |
arachnodactyly-intellectual disability-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0015235 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Bardet-Biedl syndrome | http://purl.obolibrary.org/obo/MONDO_0015229 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Bardet-Biedl syndrome 7 | http://www.ebi.ac.uk/efo/EFO_0009026 | http://purl.obolibrary.org/obo/MONDO_0015229 |
Bardet-Biedl syndrome 5 | http://www.ebi.ac.uk/efo/EFO_0009025 | http://purl.obolibrary.org/obo/MONDO_0015229 |
Bardet-Biedl syndrome 4 | http://www.ebi.ac.uk/efo/EFO_0009024 | http://purl.obolibrary.org/obo/MONDO_0015229 |
Bardet-Biedl syndrome 12 | http://www.ebi.ac.uk/efo/EFO_0009023 | http://purl.obolibrary.org/obo/MONDO_0015229 |
Bardet-Biedl syndrome 9 | http://www.ebi.ac.uk/efo/EFO_0009027 | http://purl.obolibrary.org/obo/MONDO_0015229 |
Bardet-Biedl syndrome 10 | http://www.ebi.ac.uk/efo/EFO_0009022 | http://purl.obolibrary.org/obo/MONDO_0015229 |
Bardet-Biedl syndrome 1 | http://www.ebi.ac.uk/efo/EFO_0009021 | http://purl.obolibrary.org/obo/MONDO_0015229 |
Carey-Fineman-Ziter syndrome | http://purl.obolibrary.org/obo/MONDO_0009700 | http://purl.obolibrary.org/obo/MONDO_0043007 |
acromegaloid facial appearance syndrome | http://purl.obolibrary.org/obo/MONDO_0007051 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Prader-Willi-like syndrome | http://purl.obolibrary.org/obo/MONDO_0018354 | http://purl.obolibrary.org/obo/MONDO_0043007 |
SIM1-related Prader-Willi-like syndrome | http://purl.obolibrary.org/obo/MONDO_0018355 | http://purl.obolibrary.org/obo/MONDO_0018354 |
microphthalmia with limb anomalies | http://purl.obolibrary.org/obo/MONDO_0008800 | http://purl.obolibrary.org/obo/MONDO_0043007 |
ablepharon macrostomia syndrome | http://purl.obolibrary.org/obo/MONDO_0008693 | http://purl.obolibrary.org/obo/MONDO_0043007 |
short stature-wormian bones-dextrocardia syndrome | http://purl.obolibrary.org/obo/MONDO_0008499 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Kallmann syndrome-heart disease syndrome | http://purl.obolibrary.org/obo/MONDO_0016515 | http://purl.obolibrary.org/obo/MONDO_0043007 |
polyvalvular heart disease syndrome | http://purl.obolibrary.org/obo/MONDO_0016460 | http://purl.obolibrary.org/obo/MONDO_0043007 |
focal dermal hypoplasia | http://purl.obolibrary.org/obo/MONDO_0010592 | http://purl.obolibrary.org/obo/MONDO_0043007 |
isotretinoin-like syndrome | http://purl.obolibrary.org/obo/MONDO_0009473 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Nance-Horan syndrome | http://purl.obolibrary.org/obo/MONDO_0010545 | http://purl.obolibrary.org/obo/MONDO_0043007 |
oculotrichoanal syndrome | http://purl.obolibrary.org/obo/MONDO_0009560 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Hennekam-Beemer syndrome | http://purl.obolibrary.org/obo/MONDO_0009569 | http://purl.obolibrary.org/obo/MONDO_0043007 |
occipital horn syndrome | http://purl.obolibrary.org/obo/MONDO_0010572 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Mietens syndrome | http://purl.obolibrary.org/obo/MONDO_0009582 | http://purl.obolibrary.org/obo/MONDO_0043007 |
moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | http://purl.obolibrary.org/obo/MONDO_0010448 | http://purl.obolibrary.org/obo/MONDO_0043007 |
lethal restrictive dermopathy | http://purl.obolibrary.org/obo/MONDO_0010143 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Toriello-Carey syndrome | http://purl.obolibrary.org/obo/MONDO_0009021 | http://purl.obolibrary.org/obo/MONDO_0043007 |
SHORT syndrome | http://purl.obolibrary.org/obo/MONDO_0010026 | http://purl.obolibrary.org/obo/MONDO_0043007 |
Donnai-Barrow syndrome | http://purl.obolibrary.org/obo/MONDO_0009104 | http://purl.obolibrary.org/obo/MONDO_0043007 |
symptomatic form of Coffin-Lowry syndrome in female carriers | http://purl.obolibrary.org/obo/MONDO_0017193 | http://purl.obolibrary.org/obo/MONDO_0043007 |
King-Denborough syndrome | http://purl.obolibrary.org/obo/MONDO_0020485 | http://purl.obolibrary.org/obo/MONDO_0043007 |
hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome | http://purl.obolibrary.org/obo/MONDO_0010972 | http://purl.obolibrary.org/obo/MONDO_0043007 |
autosomal dominant popliteal pterygium syndrome | http://purl.obolibrary.org/obo/MONDO_0007334 | http://purl.obolibrary.org/obo/MONDO_0043007 |
multiple congenital anomalies/dysmorphic syndrome without intellectual disability | http://purl.obolibrary.org/obo/MONDO_0015161 | http://purl.obolibrary.org/obo/MONDO_0019042 |
genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability | http://purl.obolibrary.org/obo/MONDO_0043008 | http://purl.obolibrary.org/obo/MONDO_0015161 |
Freeman-Sheldon syndrome | http://www.orpha.net/ORDO/Orphanet_2053 | http://purl.obolibrary.org/obo/MONDO_0043008 |
grange syndrome | http://purl.obolibrary.org/obo/MONDO_0011243 | http://purl.obolibrary.org/obo/MONDO_0043008 |
DNA ligase IV deficiency | http://purl.obolibrary.org/obo/MONDO_0011686 | http://purl.obolibrary.org/obo/MONDO_0043008 |
lethal congenital contracture syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0011868 | http://purl.obolibrary.org/obo/MONDO_0043008 |
nasopalpebral lipoma-coloboma syndrome | http://purl.obolibrary.org/obo/MONDO_0008182 | http://purl.obolibrary.org/obo/MONDO_0043008 |
anonychia-microcephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0011795 | http://purl.obolibrary.org/obo/MONDO_0043008 |
short stature-craniofacial anomalies-genital hypoplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0008335 | http://purl.obolibrary.org/obo/MONDO_0043008 |
autosomal dominant prognathism | http://purl.obolibrary.org/obo/MONDO_0008312 | http://purl.obolibrary.org/obo/MONDO_0043008 |
craniolenticulosutural dysplasia | http://purl.obolibrary.org/obo/MONDO_0011911 | http://purl.obolibrary.org/obo/MONDO_0043008 |
microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type | http://purl.obolibrary.org/obo/MONDO_0013053 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Nijmegen breakage syndrome-like disorder | http://purl.obolibrary.org/obo/MONDO_0013118 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Warsaw breakage syndrome | http://purl.obolibrary.org/obo/MONDO_0013252 | http://purl.obolibrary.org/obo/MONDO_0043008 |
dislocation of the hip-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0011081 | http://purl.obolibrary.org/obo/MONDO_0043008 |
microcephaly-cardiac defect-lung malsegmentation syndrome | http://purl.obolibrary.org/obo/MONDO_0011050 | http://purl.obolibrary.org/obo/MONDO_0043008 |
cleft lip/palate-intestinal malrotation-cardiopathy syndrome | http://purl.obolibrary.org/obo/MONDO_0011008 | http://purl.obolibrary.org/obo/MONDO_0043008 |
diaphragmatic defect-limb deficiency-skull defect syndrome | http://purl.obolibrary.org/obo/MONDO_0011007 | http://purl.obolibrary.org/obo/MONDO_0043008 |
hypertrichosis-acromegaloid facial appearance syndrome | http://purl.obolibrary.org/obo/MONDO_0019940 | http://purl.obolibrary.org/obo/MONDO_0043008 |
median nodule of the upper lip | http://purl.obolibrary.org/obo/MONDO_0007904 | http://purl.obolibrary.org/obo/MONDO_0043008 |
contractures - webbed neck - micrognathia - hypoplastic nipples syndrome | http://purl.obolibrary.org/obo/MONDO_0017788 | http://purl.obolibrary.org/obo/MONDO_0043008 |
digitotalar dysmorphism | http://purl.obolibrary.org/obo/MONDO_0015240 | http://purl.obolibrary.org/obo/MONDO_0043008 |
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0015230 | http://purl.obolibrary.org/obo/MONDO_0043008 |
night blindness-skeletal anomalies-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0015326 | http://purl.obolibrary.org/obo/MONDO_0043008 |
ichthyosis-oral and digital anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0009792 | http://purl.obolibrary.org/obo/MONDO_0043008 |
pentalogy of Cantrell | http://purl.obolibrary.org/obo/MONDO_0010742 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Keipert syndrome | http://purl.obolibrary.org/obo/MONDO_0009720 | http://purl.obolibrary.org/obo/MONDO_0043008 |
cataract-aberrant oral frenula-growth delay syndrome | http://purl.obolibrary.org/obo/MONDO_0007277 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Gordon syndrome | http://purl.obolibrary.org/obo/MONDO_0007252 | http://purl.obolibrary.org/obo/MONDO_0043008 |
branchiooculofacial syndrome | http://purl.obolibrary.org/obo/MONDO_0007235 | http://purl.obolibrary.org/obo/MONDO_0043008 |
PARC syndrome | http://purl.obolibrary.org/obo/MONDO_0010867 | http://purl.obolibrary.org/obo/MONDO_0043008 |
short tarsus-absence of lower eyelashes syndrome | http://purl.obolibrary.org/obo/MONDO_0010855 | http://purl.obolibrary.org/obo/MONDO_0043008 |
PHAVER syndrome | http://purl.obolibrary.org/obo/MONDO_0009859 | http://purl.obolibrary.org/obo/MONDO_0043008 |
atrioventricular defect-blepharophimosis-radial and anal defect syndrome | http://purl.obolibrary.org/obo/MONDO_0010825 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Ascher syndrome | http://purl.obolibrary.org/obo/MONDO_0007198 | http://purl.obolibrary.org/obo/MONDO_0043008 |
auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome | http://purl.obolibrary.org/obo/MONDO_0019178 | http://purl.obolibrary.org/obo/MONDO_0043008 |
macrostomia-preauricular tags-external ophthalmoplegia syndrome | http://purl.obolibrary.org/obo/MONDO_0019387 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Richieri Costa-Pereira syndrome | http://purl.obolibrary.org/obo/MONDO_0009998 | http://purl.obolibrary.org/obo/MONDO_0043008 |
cleft palate-lateral synechia syndrome | http://purl.obolibrary.org/obo/MONDO_0007337 | http://purl.obolibrary.org/obo/MONDO_0043008 |
blepharocheilodontic syndrome | http://purl.obolibrary.org/obo/MONDO_0007339 | http://purl.obolibrary.org/obo/MONDO_0043008 |
van den Ende-Gupta syndrome | http://purl.obolibrary.org/obo/MONDO_0010959 | http://purl.obolibrary.org/obo/MONDO_0043008 |
cherubism | http://purl.obolibrary.org/obo/MONDO_0007315 | http://purl.obolibrary.org/obo/MONDO_0043008 |
velo-facial-skeletal syndrome | http://purl.obolibrary.org/obo/MONDO_0010925 | http://purl.obolibrary.org/obo/MONDO_0043008 |
anophthalmia plus syndrome | http://purl.obolibrary.org/obo/MONDO_0010930 | http://purl.obolibrary.org/obo/MONDO_0043008 |
autosomal recessive multiple pterygium syndrome | http://purl.obolibrary.org/obo/MONDO_0009926 | http://purl.obolibrary.org/obo/MONDO_0043008 |
polysyndactyly-cardiac malformation syndrome | http://purl.obolibrary.org/obo/MONDO_0009900 | http://purl.obolibrary.org/obo/MONDO_0043008 |
short stature-valvular heart disease-characteristic facies syndrome | http://purl.obolibrary.org/obo/MONDO_0007461 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Cyprus facial-neuromusculoskeletal syndrome | http://purl.obolibrary.org/obo/MONDO_0007413 | http://purl.obolibrary.org/obo/MONDO_0043008 |
cryptomicrotia-brachydactyly-excess fingertip arch syndrome | http://purl.obolibrary.org/obo/MONDO_0007409 | http://purl.obolibrary.org/obo/MONDO_0043008 |
van der Woude syndrome | http://purl.obolibrary.org/obo/MONDO_0019508 | http://purl.obolibrary.org/obo/MONDO_0043008 |
multinodular goiter-cystic kidney-polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0007680 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Bencze syndrome | http://purl.obolibrary.org/obo/MONDO_0007711 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Aase-Smith syndrome | http://purl.obolibrary.org/obo/MONDO_0007839 | http://purl.obolibrary.org/obo/MONDO_0043008 |
heart defect - tongue hamartoma - polysyndactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009008 | http://purl.obolibrary.org/obo/MONDO_0043008 |
lethal congenital contracture syndrome 3 | http://purl.obolibrary.org/obo/MONDO_0012656 | http://purl.obolibrary.org/obo/MONDO_0043008 |
gingival fibromatosis-facial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0009228 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Fontaine progeroid syndrome | http://purl.obolibrary.org/obo/MONDO_0012853 | http://purl.obolibrary.org/obo/MONDO_0043008 |
white forelock with malformations | http://purl.obolibrary.org/obo/MONDO_0010199 | http://purl.obolibrary.org/obo/MONDO_0043008 |
trigonocephaly-bifid nose-acral anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0010154 | http://purl.obolibrary.org/obo/MONDO_0043008 |
von Voss-Cherstvoy syndrome | http://purl.obolibrary.org/obo/MONDO_0009121 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Vici syndrome | http://purl.obolibrary.org/obo/MONDO_0009452 | http://purl.obolibrary.org/obo/MONDO_0043008 |
McKusick-Kaufman syndrome | http://purl.obolibrary.org/obo/MONDO_0009367 | http://purl.obolibrary.org/obo/MONDO_0043008 |
hydrocephaly-tall stature-joint laxity syndrome | http://purl.obolibrary.org/obo/MONDO_0009363 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Holzgreve-Wagner-Rehder syndrome | http://purl.obolibrary.org/obo/MONDO_0009350 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Juberg-Hayward syndrome | http://purl.obolibrary.org/obo/MONDO_0008992 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Verloove Vanhorick-Brubakk syndrome | http://purl.obolibrary.org/obo/MONDO_0008991 | http://purl.obolibrary.org/obo/MONDO_0043008 |
fetal akinesia deformation sequence | http://purl.obolibrary.org/obo/MONDO_0008824 | http://purl.obolibrary.org/obo/MONDO_0043008 |
fetal akinesia deformation sequence 1 | http://purl.obolibrary.org/obo/MONDO_0100101 | http://purl.obolibrary.org/obo/MONDO_0008824 |
Beemer-Ertbruggen syndrome | http://purl.obolibrary.org/obo/MONDO_0008857 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Barber-Say syndrome | http://purl.obolibrary.org/obo/MONDO_0008853 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Cooper-Jabs syndrome | http://purl.obolibrary.org/obo/MONDO_0008850 | http://purl.obolibrary.org/obo/MONDO_0043008 |
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | http://purl.obolibrary.org/obo/MONDO_0008875 | http://purl.obolibrary.org/obo/MONDO_0043008 |
camptodactyly syndrome, Guadalajara type 1 | http://purl.obolibrary.org/obo/MONDO_0008898 | http://purl.obolibrary.org/obo/MONDO_0043008 |
acro-renal-mandibular syndrome | http://purl.obolibrary.org/obo/MONDO_0008707 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Ackerman syndrome | http://purl.obolibrary.org/obo/MONDO_0008706 | http://purl.obolibrary.org/obo/MONDO_0043008 |
alar cartilages hypoplasia-coloboma-telecanthus syndrome | http://purl.obolibrary.org/obo/MONDO_0008744 | http://purl.obolibrary.org/obo/MONDO_0043008 |
microcephaly-albinism-digital anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0008750 | http://purl.obolibrary.org/obo/MONDO_0043008 |
ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome | http://purl.obolibrary.org/obo/MONDO_0008645 | http://purl.obolibrary.org/obo/MONDO_0043008 |
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome | http://purl.obolibrary.org/obo/MONDO_0008650 | http://purl.obolibrary.org/obo/MONDO_0043008 |
scalp-ear-nipple syndrome | http://purl.obolibrary.org/obo/MONDO_0008404 | http://purl.obolibrary.org/obo/MONDO_0043008 |
cleft lip-retinopathy syndrome | http://purl.obolibrary.org/obo/MONDO_0016051 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Braddock syndrome | http://purl.obolibrary.org/obo/MONDO_0012032 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Nijmegen breakage syndrome | http://purl.obolibrary.org/obo/MONDO_0009623 | http://purl.obolibrary.org/obo/MONDO_0043008 |
lethal congenital contracture syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0009670 | http://purl.obolibrary.org/obo/MONDO_0043008 |
Donohue syndrome | http://purl.obolibrary.org/obo/MONDO_0009517 | http://purl.obolibrary.org/obo/MONDO_0043008 |
macrosomia-microphthalmia-cleft palate syndrome | http://purl.obolibrary.org/obo/MONDO_0009547 | http://purl.obolibrary.org/obo/MONDO_0043008 |
multiple congenital anomalies/dysmorphic syndrome-intellectual disability | http://purl.obolibrary.org/obo/MONDO_0015159 | http://purl.obolibrary.org/obo/MONDO_0019042 |
microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | http://purl.obolibrary.org/obo/MONDO_0013735 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Pierpont syndrome | http://purl.obolibrary.org/obo/MONDO_0011213 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Wiedemann-Steiner syndrome | http://purl.obolibrary.org/obo/MONDO_0011518 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Bohring-Opitz syndrome | http://purl.obolibrary.org/obo/MONDO_0011510 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Okamoto syndrome | http://purl.obolibrary.org/obo/MONDO_0011499 | http://purl.obolibrary.org/obo/MONDO_0015159 |
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | http://purl.obolibrary.org/obo/MONDO_0060502 | http://purl.obolibrary.org/obo/MONDO_0015159 |
cerebrooculonasal syndrome | http://purl.obolibrary.org/obo/MONDO_0011575 | http://purl.obolibrary.org/obo/MONDO_0015159 |
ophthalmoplegia-intellectual disability-lingua scrotalis syndrome | http://purl.obolibrary.org/obo/MONDO_0008130 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0011722 | http://purl.obolibrary.org/obo/MONDO_0015159 |
glycosylphosphatidylinositol biosynthesis defect 15 | http://purl.obolibrary.org/obo/MONDO_0060627 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Zechi-Ceide syndrome | http://purl.obolibrary.org/obo/MONDO_0013036 | http://purl.obolibrary.org/obo/MONDO_0015159 |
facial dysmorphism-shawl scrotum-joint laxity syndrome | http://purl.obolibrary.org/obo/MONDO_0015781 | http://purl.obolibrary.org/obo/MONDO_0015159 |
syndromic multisystem autoimmune disease due to ITCH deficiency | http://purl.obolibrary.org/obo/MONDO_0013245 | http://purl.obolibrary.org/obo/MONDO_0015159 |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0013362 | http://purl.obolibrary.org/obo/MONDO_0015159 |
epiphyseal dysplasia-hearing loss-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0015941 | http://purl.obolibrary.org/obo/MONDO_0015159 |
DYRK1A-related intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0013578 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-sparse hair-brachydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0011053 | http://purl.obolibrary.org/obo/MONDO_0015159 |
epilepsy-microcephaly-skeletal dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0011048 | http://purl.obolibrary.org/obo/MONDO_0015159 |
fine-Lubinsky syndrome | http://purl.obolibrary.org/obo/MONDO_0011049 | http://purl.obolibrary.org/obo/MONDO_0015159 |
blepharophimosis - intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0017393 | http://purl.obolibrary.org/obo/MONDO_0015159 |
blepharophimosis - intellectual disability syndrome, Verloes type | http://purl.obolibrary.org/obo/MONDO_0011432 | http://purl.obolibrary.org/obo/MONDO_0017393 |
Ohdo syndrome and variants | http://purl.obolibrary.org/obo/MONDO_0000734 | http://purl.obolibrary.org/obo/MONDO_0017393 |
blepharophimosis - intellectual disability syndrome, SBBYS type | http://purl.obolibrary.org/obo/MONDO_0011365 | http://purl.obolibrary.org/obo/MONDO_0000734 |
blepharophimosis - intellectual disability syndrome, Ohdo type | http://purl.obolibrary.org/obo/MONDO_0009583 | http://purl.obolibrary.org/obo/MONDO_0000734 |
blepharophimosis - intellectual disability syndrome, MKB type | http://purl.obolibrary.org/obo/MONDO_0010477 | http://purl.obolibrary.org/obo/MONDO_0000734 |
3MC syndrome | http://purl.obolibrary.org/obo/MONDO_0017398 | http://purl.obolibrary.org/obo/MONDO_0015159 |
3MC syndrome 2 | http://www.ebi.ac.uk/efo/EFO_1001977 | http://purl.obolibrary.org/obo/MONDO_0017398 |
3MC syndrome 1 | http://www.ebi.ac.uk/efo/EFO_1001978 | http://purl.obolibrary.org/obo/MONDO_0017398 |
preaxial polydactyly-colobomata-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0017377 | http://purl.obolibrary.org/obo/MONDO_0015159 |
short stature-webbed neck-heart disease syndrome | http://purl.obolibrary.org/obo/MONDO_0017315 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Skraban-Deardorff syndrome | http://purl.obolibrary.org/obo/MONDO_0054636 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-polydactyly-uncombable hair syndrome | http://purl.obolibrary.org/obo/MONDO_0017682 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-short stature-hypertelorism syndrome | http://purl.obolibrary.org/obo/MONDO_0017668 | http://purl.obolibrary.org/obo/MONDO_0015159 |
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome | http://purl.obolibrary.org/obo/MONDO_0017614 | http://purl.obolibrary.org/obo/MONDO_0015159 |
cardiofaciocutaneous syndrome | http://purl.obolibrary.org/obo/MONDO_0015280 | http://purl.obolibrary.org/obo/MONDO_0015159 |
brachydactyly-mesomelia-intellectual disability-heart defects syndrome | http://purl.obolibrary.org/obo/MONDO_0015259 | http://purl.obolibrary.org/obo/MONDO_0015159 |
arachnodactyly-abnormal ossification-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0015234 | http://purl.obolibrary.org/obo/MONDO_0015159 |
van Maldergem syndrome | http://purl.obolibrary.org/obo/MONDO_0017813 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome | http://purl.obolibrary.org/obo/MONDO_0017805 | http://purl.obolibrary.org/obo/MONDO_0015159 |
telecanthus-hypertelorism-strabismus-pes cavus syndrome | http://purl.obolibrary.org/obo/MONDO_0017997 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability, autosomal dominant 47 | http://purl.obolibrary.org/obo/MONDO_0030912 | http://purl.obolibrary.org/obo/MONDO_0015159 |
muscular hypertrophy-hepatomegaly-polyhydramnios syndrome | http://purl.obolibrary.org/obo/MONDO_0017932 | http://purl.obolibrary.org/obo/MONDO_0015159 |
aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0017934 | http://purl.obolibrary.org/obo/MONDO_0015159 |
cryptorchidism-arachnodactyly-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0015473 | http://purl.obolibrary.org/obo/MONDO_0015159 |
craniodigital syndrome-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0015463 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome | http://purl.obolibrary.org/obo/MONDO_0015458 | http://purl.obolibrary.org/obo/MONDO_0015159 |
visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0019133 | http://purl.obolibrary.org/obo/MONDO_0015159 |
aortic arch anomaly-facial dysmorphism-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0007143 | http://purl.obolibrary.org/obo/MONDO_0015159 |
lethal omphalocele-cleft palate syndrome | http://purl.obolibrary.org/obo/MONDO_0009780 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Wieacker-Wolff syndrome | http://purl.obolibrary.org/obo/MONDO_0010758 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Oliver syndrome | http://purl.obolibrary.org/obo/MONDO_0009777 | http://purl.obolibrary.org/obo/MONDO_0015159 |
oculo-palato-cerebral syndrome | http://purl.obolibrary.org/obo/MONDO_0009769 | http://purl.obolibrary.org/obo/MONDO_0015159 |
sialidosis type 2 | http://purl.obolibrary.org/obo/MONDO_0009738 | http://purl.obolibrary.org/obo/MONDO_0015159 |
juvenile sialidosis type 2 | http://purl.obolibrary.org/obo/MONDO_0019681 | http://purl.obolibrary.org/obo/MONDO_0009738 |
congenital sialidosis type 2 | http://purl.obolibrary.org/obo/MONDO_0019682 | http://purl.obolibrary.org/obo/MONDO_0009738 |
Pallister-W syndrome | http://purl.obolibrary.org/obo/MONDO_0010708 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Ritscher-Schinzel syndrome | http://purl.obolibrary.org/obo/MONDO_0019078 | http://purl.obolibrary.org/obo/MONDO_0015159 |
craniofaciofrontodigital syndrome | http://purl.obolibrary.org/obo/MONDO_0007259 | http://purl.obolibrary.org/obo/MONDO_0015159 |
acrocardiofacial syndrome | http://purl.obolibrary.org/obo/MONDO_0010890 | http://purl.obolibrary.org/obo/MONDO_0015159 |
brachydactyly-nystagmus-cerebellar ataxia syndrome | http://purl.obolibrary.org/obo/MONDO_0007226 | http://purl.obolibrary.org/obo/MONDO_0015159 |
macrocephaly-spastic paraplegia-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0010858 | http://purl.obolibrary.org/obo/MONDO_0015159 |
pterygium colli-intellectual disability-digital anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0010835 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Peters plus syndrome | http://purl.obolibrary.org/obo/MONDO_0009856 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Pfeiffer-Palm-Teller syndrome | http://purl.obolibrary.org/obo/MONDO_0009858 | http://purl.obolibrary.org/obo/MONDO_0015159 |
brain malformation-congenital heart disease-postaxial polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0019153 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | http://purl.obolibrary.org/obo/MONDO_0044319 | http://purl.obolibrary.org/obo/MONDO_0015159 |
fallot complex-intellectual disability-growth delay syndrome | http://purl.obolibrary.org/obo/MONDO_0010999 | http://purl.obolibrary.org/obo/MONDO_0015159 |
uveal coloboma-cleft lip and palate-intellectual disability | http://purl.obolibrary.org/obo/MONDO_0007355 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Harrod syndrome | http://purl.obolibrary.org/obo/MONDO_0010993 | http://purl.obolibrary.org/obo/MONDO_0015159 |
holoprosencephaly-postaxial polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009921 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Wiedemann-Rautenstrauch syndrome | http://purl.obolibrary.org/obo/MONDO_0009910 | http://purl.obolibrary.org/obo/MONDO_0015159 |
urban-Rogers-Meyer syndrome | http://purl.obolibrary.org/obo/MONDO_0009905 | http://purl.obolibrary.org/obo/MONDO_0015159 |
X-linked intellectual disability, Pai type | http://purl.obolibrary.org/obo/MONDO_0019420 | http://purl.obolibrary.org/obo/MONDO_0015159 |
X-linked intellectual disability, Stevenson type | http://purl.obolibrary.org/obo/MONDO_0019422 | http://purl.obolibrary.org/obo/MONDO_0015159 |
X-linked intellectual disability, Stoll type | http://purl.obolibrary.org/obo/MONDO_0019423 | http://purl.obolibrary.org/obo/MONDO_0015159 |
fried syndrome | http://purl.obolibrary.org/obo/MONDO_0019428 | http://purl.obolibrary.org/obo/MONDO_0015159 |
BRESEK syndrome | http://purl.obolibrary.org/obo/MONDO_0019414 | http://purl.obolibrary.org/obo/MONDO_0015159 |
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0019418 | http://purl.obolibrary.org/obo/MONDO_0015159 |
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome | http://purl.obolibrary.org/obo/MONDO_0019416 | http://purl.obolibrary.org/obo/MONDO_0015159 |
SIN3A-related intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0044699 | http://purl.obolibrary.org/obo/MONDO_0015159 |
neuroectodermal-endocrine syndrome | http://purl.obolibrary.org/obo/MONDO_0017045 | http://purl.obolibrary.org/obo/MONDO_0015159 |
floating-Harbor syndrome | http://purl.obolibrary.org/obo/MONDO_0007621 | http://purl.obolibrary.org/obo/MONDO_0015159 |
osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0019603 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Gabriele de Vries syndrome | http://purl.obolibrary.org/obo/MONDO_0044738 | http://purl.obolibrary.org/obo/MONDO_0015159 |
severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia | http://purl.obolibrary.org/obo/MONDO_0019786 | http://purl.obolibrary.org/obo/MONDO_0015159 |
hirsutism-skeletal dysplasia-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0007724 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Lenz-Majewski hyperostotic dwarfism | http://purl.obolibrary.org/obo/MONDO_0007892 | http://purl.obolibrary.org/obo/MONDO_0015159 |
KBG syndrome | http://purl.obolibrary.org/obo/MONDO_0007846 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Johnson neuroectodermal syndrome | http://purl.obolibrary.org/obo/MONDO_0007837 | http://purl.obolibrary.org/obo/MONDO_0015159 |
agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome | http://purl.obolibrary.org/obo/MONDO_0012508 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Koolen-de Vries syndrome | http://purl.obolibrary.org/obo/MONDO_0012496 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Koolen-de Vries syndrome due to a point mutation | http://purl.obolibrary.org/obo/MONDO_0018217 | http://purl.obolibrary.org/obo/MONDO_0012496 |
Kleefstra syndrome | http://purl.obolibrary.org/obo/MONDO_0012455 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Kleefstra syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0054701 | http://purl.obolibrary.org/obo/MONDO_0012455 |
Kleefstra syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0027407 | http://purl.obolibrary.org/obo/MONDO_0012455 |
Kleefstra syndrome due to a point mutation | http://purl.obolibrary.org/obo/MONDO_0016865 | http://purl.obolibrary.org/obo/MONDO_0012455 |
Pitt-Hopkins syndrome | http://purl.obolibrary.org/obo/MONDO_0012589 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Filippi syndrome | http://purl.obolibrary.org/obo/MONDO_0010092 | http://purl.obolibrary.org/obo/MONDO_0015159 |
facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome | http://purl.obolibrary.org/obo/MONDO_0009074 | http://purl.obolibrary.org/obo/MONDO_0015159 |
congenital heart defect-round face-developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0010039 | http://purl.obolibrary.org/obo/MONDO_0015159 |
temtamy syndrome | http://purl.obolibrary.org/obo/MONDO_0009033 | http://purl.obolibrary.org/obo/MONDO_0015159 |
cortical blindness-intellectual disability-polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009024 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Costello syndrome | http://purl.obolibrary.org/obo/MONDO_0009026 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Crane-Heise syndrome | http://purl.obolibrary.org/obo/MONDO_0009028 | http://purl.obolibrary.org/obo/MONDO_0015159 |
microbrachycephaly-ptosis-cleft lip syndrome | http://purl.obolibrary.org/obo/MONDO_0010007 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability, Wolff type | http://purl.obolibrary.org/obo/MONDO_0010203 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Weaver syndrome | http://purl.obolibrary.org/obo/MONDO_0010193 | http://purl.obolibrary.org/obo/MONDO_0015159 |
epilepsy-telangiectasia syndrome | http://purl.obolibrary.org/obo/MONDO_0009188 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Bonnemann-Meinecke-Reich syndrome | http://purl.obolibrary.org/obo/MONDO_0009167 | http://purl.obolibrary.org/obo/MONDO_0015159 |
upper limb defect-eye and ear abnormalities syndrome | http://purl.obolibrary.org/obo/MONDO_0010125 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Dubowitz syndrome | http://purl.obolibrary.org/obo/MONDO_0009124 | http://purl.obolibrary.org/obo/MONDO_0015159 |
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0010332 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Atkin-Flaitz syndrome | http://purl.obolibrary.org/obo/MONDO_0010323 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Hall-Riggs syndrome | http://purl.obolibrary.org/obo/MONDO_0009320 | http://purl.obolibrary.org/obo/MONDO_0015159 |
X-linked intellectual disability, Cabezas type | http://purl.obolibrary.org/obo/MONDO_0010306 | http://purl.obolibrary.org/obo/MONDO_0015159 |
creatine transporter deficiency | http://purl.obolibrary.org/obo/MONDO_0010305 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Armfield syndrome | http://purl.obolibrary.org/obo/MONDO_0010284 | http://purl.obolibrary.org/obo/MONDO_0015159 |
syndromic X-linked intellectual disability Abidi type | http://purl.obolibrary.org/obo/MONDO_0010285 | http://purl.obolibrary.org/obo/MONDO_0015159 |
syndromic X-linked intellectual disability Siderius type | http://purl.obolibrary.org/obo/MONDO_0010286 | http://purl.obolibrary.org/obo/MONDO_0015159 |
syndromic X-linked intellectual disability 7 | http://purl.obolibrary.org/obo/MONDO_0010270 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Christianson syndrome | http://purl.obolibrary.org/obo/MONDO_0010278 | http://purl.obolibrary.org/obo/MONDO_0015159 |
syndromic X-linked intellectual disability Shashi type | http://purl.obolibrary.org/obo/MONDO_0010277 | http://purl.obolibrary.org/obo/MONDO_0015159 |
gapo syndrome | http://purl.obolibrary.org/obo/MONDO_0009263 | http://purl.obolibrary.org/obo/MONDO_0015159 |
odontotrichomelic syndrome | http://purl.obolibrary.org/obo/MONDO_0010111 | http://purl.obolibrary.org/obo/MONDO_0009263 |
Fryns syndrome | http://purl.obolibrary.org/obo/MONDO_0009253 | http://purl.obolibrary.org/obo/MONDO_0015159 |
hypoparathyroidism-retardation-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0009426 | http://purl.obolibrary.org/obo/MONDO_0015159 |
hypertelorism, microtia, facial clefting syndrome | http://purl.obolibrary.org/obo/MONDO_0009404 | http://purl.obolibrary.org/obo/MONDO_0015159 |
fragile X syndrome | http://purl.obolibrary.org/obo/MONDO_0010383 | http://purl.obolibrary.org/obo/MONDO_0015159 |
syndromic X-linked intellectual disability Claes-Jensen type | http://purl.obolibrary.org/obo/MONDO_0010355 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability, Buenos-Aires type | http://purl.obolibrary.org/obo/MONDO_0009584 | http://purl.obolibrary.org/obo/MONDO_0015159 |
syndromic X-linked intellectual disability 5 | http://purl.obolibrary.org/obo/MONDO_0010574 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome | http://purl.obolibrary.org/obo/MONDO_0009581 | http://purl.obolibrary.org/obo/MONDO_0015159 |
McDonough syndrome | http://purl.obolibrary.org/obo/MONDO_0009570 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Marden-Walker syndrome | http://purl.obolibrary.org/obo/MONDO_0009564 | http://purl.obolibrary.org/obo/MONDO_0015159 |
microcephaly-glomerulonephritis-marfanoid habitus syndrome | http://purl.obolibrary.org/obo/MONDO_0009565 | http://purl.obolibrary.org/obo/MONDO_0015159 |
marfanoid habitus-autosomal recessive intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0009566 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Borjeson-Forssman-Lehmann syndrome | http://purl.obolibrary.org/obo/MONDO_0010537 | http://purl.obolibrary.org/obo/MONDO_0015159 |
prominent glabella-microcephaly-hypogenitalism syndrome | http://purl.obolibrary.org/obo/MONDO_0009543 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Laurence-Moon syndrome | http://purl.obolibrary.org/obo/MONDO_0009514 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Lambert syndrome | http://purl.obolibrary.org/obo/MONDO_0009507 | http://purl.obolibrary.org/obo/MONDO_0015159 |
SSR4-CDG | http://purl.obolibrary.org/obo/MONDO_0010490 | http://purl.obolibrary.org/obo/MONDO_0015159 |
kapur-Toriello syndrome | http://purl.obolibrary.org/obo/MONDO_0009483 | http://purl.obolibrary.org/obo/MONDO_0015159 |
paraplegia-intellectual disability-hyperkeratosis syndrome | http://purl.obolibrary.org/obo/MONDO_0010662 | http://purl.obolibrary.org/obo/MONDO_0015159 |
lethal multiple pterygium syndrome | http://purl.obolibrary.org/obo/MONDO_0009668 | http://purl.obolibrary.org/obo/MONDO_0015159 |
X-linked lethal multiple pterygium syndrome | http://purl.obolibrary.org/obo/MONDO_0010716 | http://purl.obolibrary.org/obo/MONDO_0009668 |
X-linked intellectual disability with marfanoid habitus | http://purl.obolibrary.org/obo/MONDO_0010655 | http://purl.obolibrary.org/obo/MONDO_0015159 |
male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0010617 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Say-Barber-Miller syndrome | http://purl.obolibrary.org/obo/MONDO_0009620 | http://purl.obolibrary.org/obo/MONDO_0015159 |
microcephaly-cervical spine fusion anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0009621 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Jawad syndrome | http://purl.obolibrary.org/obo/MONDO_0009622 | http://purl.obolibrary.org/obo/MONDO_0015159 |
microcephaly-cardiomyopathy syndrome | http://purl.obolibrary.org/obo/MONDO_0009618 | http://purl.obolibrary.org/obo/MONDO_0015159 |
macrocephaly-developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0014289 | http://purl.obolibrary.org/obo/MONDO_0015159 |
microcephaly-thin corpus callosum-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0014273 | http://purl.obolibrary.org/obo/MONDO_0015159 |
severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0014238 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0014213 | http://purl.obolibrary.org/obo/MONDO_0015159 |
severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0014205 | http://purl.obolibrary.org/obo/MONDO_0015159 |
developmental and epileptic encephalopathy, 18 | http://purl.obolibrary.org/obo/MONDO_0014201 | http://purl.obolibrary.org/obo/MONDO_0015159 |
tall stature-intellectual disability-facial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0014382 | http://purl.obolibrary.org/obo/MONDO_0015159 |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | http://purl.obolibrary.org/obo/MONDO_0014379 | http://purl.obolibrary.org/obo/MONDO_0015159 |
autism spectrum disorder due to AUTS2 deficiency | http://purl.obolibrary.org/obo/MONDO_0014361 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | http://purl.obolibrary.org/obo/MONDO_0014336 | http://purl.obolibrary.org/obo/MONDO_0015159 |
ATR-X-related syndrome | http://purl.obolibrary.org/obo/MONDO_0016980 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Alpha-thalassemia - X-linked intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_847 | http://purl.obolibrary.org/obo/MONDO_0016980 |
X-linked intellectual disability-hypotonic face syndrome | http://purl.obolibrary.org/obo/MONDO_0010663 | http://purl.obolibrary.org/obo/MONDO_0016980 |
Carpenter-Waziri syndrome | http://purl.obolibrary.org/obo/MONDO_0019777 | http://purl.obolibrary.org/obo/MONDO_0010663 |
Chudley-Lowry-Hoar syndrome | http://purl.obolibrary.org/obo/MONDO_0019775 | http://purl.obolibrary.org/obo/MONDO_0010663 |
Smith-Fineman-Myers syndrome | http://purl.obolibrary.org/obo/MONDO_0019778 | http://purl.obolibrary.org/obo/MONDO_0010663 |
Renier-Gabreels-Jasper syndrome | http://purl.obolibrary.org/obo/MONDO_0019779 | http://purl.obolibrary.org/obo/MONDO_0010663 |
X-linked intellectual disability - hypotonic face | http://www.orpha.net/ORDO/Orphanet_73220 | http://purl.obolibrary.org/obo/MONDO_0016980 |
orofaciodigital syndrome type 14 | http://purl.obolibrary.org/obo/MONDO_0014413 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Catel-Manzke syndrome | http://purl.obolibrary.org/obo/MONDO_0014507 | http://purl.obolibrary.org/obo/MONDO_0015159 |
AICA-ribosiduria | http://purl.obolibrary.org/obo/MONDO_0012099 | http://purl.obolibrary.org/obo/MONDO_0015159 |
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0014643 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | http://purl.obolibrary.org/obo/MONDO_0014606 | http://purl.obolibrary.org/obo/MONDO_0015159 |
autosomal recessive spinocerebellar ataxia 20 | http://purl.obolibrary.org/obo/MONDO_0014601 | http://purl.obolibrary.org/obo/MONDO_0015159 |
cardiac anomalies - developmental delay - facial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0014773 | http://purl.obolibrary.org/obo/MONDO_0015159 |
spastic paraplegia-severe developmental delay-epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0014764 | http://purl.obolibrary.org/obo/MONDO_0015159 |
SLC39A8-CDG | http://purl.obolibrary.org/obo/MONDO_0014746 | http://purl.obolibrary.org/obo/MONDO_0015159 |
cleft palate-short stature-vertebral anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0016065 | http://purl.obolibrary.org/obo/MONDO_0015159 |
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome | http://purl.obolibrary.org/obo/MONDO_0018760 | http://purl.obolibrary.org/obo/MONDO_0015159 |
facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | http://purl.obolibrary.org/obo/MONDO_0014741 | http://purl.obolibrary.org/obo/MONDO_0018760 |
Hernández-Aguirre Negrete syndrome | http://purl.obolibrary.org/obo/MONDO_0016290 | http://purl.obolibrary.org/obo/MONDO_0015159 |
holoprosencephaly | http://purl.obolibrary.org/obo/MONDO_0016296 | http://purl.obolibrary.org/obo/MONDO_0015159 |
holoprosencephaly 12 with or without pancreatic agenesis | http://purl.obolibrary.org/obo/MONDO_0032787 | http://purl.obolibrary.org/obo/MONDO_0016296 |
midline interhemispheric variant of holoprosencephaly | http://purl.obolibrary.org/obo/MONDO_0019758 | http://purl.obolibrary.org/obo/MONDO_0016296 |
holoprosencephaly 5 | http://purl.obolibrary.org/obo/MONDO_0012322 | http://purl.obolibrary.org/obo/MONDO_0019758 |
lobar holoprosencephaly | http://purl.obolibrary.org/obo/MONDO_0019756 | http://purl.obolibrary.org/obo/MONDO_0016296 |
alobar holoprosencephaly | http://purl.obolibrary.org/obo/MONDO_0019757 | http://purl.obolibrary.org/obo/MONDO_0016296 |
holoprosencephaly 3 | http://purl.obolibrary.org/obo/MONDO_0007733 | http://purl.obolibrary.org/obo/MONDO_0016296 |
solitary median maxillary central incisor syndrome | http://purl.obolibrary.org/obo/MONDO_0007819 | http://purl.obolibrary.org/obo/MONDO_0007733 |
septopreoptic holoprosencephaly | http://purl.obolibrary.org/obo/MONDO_0017218 | http://purl.obolibrary.org/obo/MONDO_0016296 |
semilobar holoprosencephaly | http://purl.obolibrary.org/obo/MONDO_0016355 | http://purl.obolibrary.org/obo/MONDO_0016296 |
Pitt-Hopkins-like syndrome | http://purl.obolibrary.org/obo/MONDO_0016377 | http://purl.obolibrary.org/obo/MONDO_0015159 |
cortical dysplasia-focal epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0012400 | http://purl.obolibrary.org/obo/MONDO_0016377 |
multiple congenital anomalies-hypotonia-seizures syndrome | http://purl.obolibrary.org/obo/MONDO_0100247 | http://purl.obolibrary.org/obo/MONDO_0015159 |
multiple congenital anomalies-hypotonia-seizures syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0013563 | http://purl.obolibrary.org/obo/MONDO_0100247 |
multiple congenital anomalies-hypotonia-seizures syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0010466 | http://purl.obolibrary.org/obo/MONDO_0100247 |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | http://purl.obolibrary.org/obo/MONDO_0018580 | http://purl.obolibrary.org/obo/MONDO_0015159 |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | http://purl.obolibrary.org/obo/MONDO_0014512 | http://purl.obolibrary.org/obo/MONDO_0018580 |
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0018443 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Cohen syndrome | http://purl.obolibrary.org/obo/MONDO_0008999 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Biemond syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0008864 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Bowen-Conradi syndrome | http://purl.obolibrary.org/obo/MONDO_0008879 | http://purl.obolibrary.org/obo/MONDO_0015159 |
X-linked intellectual disability due to GRIA3 anomalies | http://purl.obolibrary.org/obo/MONDO_0018222 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-seizures-macrocephaly-obesity syndrome | http://purl.obolibrary.org/obo/MONDO_0018248 | http://purl.obolibrary.org/obo/MONDO_0015159 |
intellectual disability-facial dysmorphism-hand anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0018253 | http://purl.obolibrary.org/obo/MONDO_0015159 |
XYLT1-CDG | http://purl.obolibrary.org/obo/MONDO_0018273 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Weaver-Williams syndrome | http://purl.obolibrary.org/obo/MONDO_0018095 | http://purl.obolibrary.org/obo/MONDO_0015159 |
acrocallosal syndrome | http://purl.obolibrary.org/obo/MONDO_0008708 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Stimmler syndrome | http://purl.obolibrary.org/obo/MONDO_0008743 | http://purl.obolibrary.org/obo/MONDO_0015159 |
agnathia-otocephaly complex | http://purl.obolibrary.org/obo/MONDO_0008740 | http://purl.obolibrary.org/obo/MONDO_0015159 |
anencephaly 1 | http://purl.obolibrary.org/obo/MONDO_0008791 | http://purl.obolibrary.org/obo/MONDO_0015159 |
pseudoprogeria syndrome | http://purl.obolibrary.org/obo/MONDO_0008694 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Ruvalcaba syndrome | http://purl.obolibrary.org/obo/MONDO_0008395 | http://purl.obolibrary.org/obo/MONDO_0015159 |
omphalocele syndrome, Shprintzen-Goldberg type | http://purl.obolibrary.org/obo/MONDO_0008425 | http://purl.obolibrary.org/obo/MONDO_0015159 |
delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome | http://purl.obolibrary.org/obo/MONDO_0008445 | http://purl.obolibrary.org/obo/MONDO_0015159 |
microcephaly-seizures-intellectual disability-heart disease syndrome | http://purl.obolibrary.org/obo/MONDO_0016719 | http://purl.obolibrary.org/obo/MONDO_0015159 |
microcephaly-cleft palate syndrome | http://purl.obolibrary.org/obo/MONDO_0016750 | http://purl.obolibrary.org/obo/MONDO_0015159 |
multiple congenital anomalies due to 14q32.2 maternally expressed gene defect | http://purl.obolibrary.org/obo/MONDO_0016779 | http://purl.obolibrary.org/obo/MONDO_0015159 |
maternal 14q32.2 microdeletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016781 | http://purl.obolibrary.org/obo/MONDO_0016779 |
maternal 14q32.2 hypermethylation syndrome | http://purl.obolibrary.org/obo/MONDO_0016783 | http://purl.obolibrary.org/obo/MONDO_0016779 |
hypotonia, infantile, with psychomotor retardation and characteristic facies | http://purl.obolibrary.org/obo/MONDO_0014176 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Hartsfield-Bixler-Demyer syndrome | http://purl.obolibrary.org/obo/MONDO_0014196 | http://purl.obolibrary.org/obo/MONDO_0015159 |
Schuurs-Hoeijmakers syndrome | http://purl.obolibrary.org/obo/MONDO_0014006 | http://purl.obolibrary.org/obo/MONDO_0015159 |
severe intellectual disability-progressive spastic diplegia syndrome | http://purl.obolibrary.org/obo/MONDO_0014035 | http://purl.obolibrary.org/obo/MONDO_0015159 |
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | http://purl.obolibrary.org/obo/MONDO_0014034 | http://purl.obolibrary.org/obo/MONDO_0015159 |
short ulna-dysmorphism-hypotonia-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0014067 | http://purl.obolibrary.org/obo/MONDO_0015159 |
microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0014096 | http://purl.obolibrary.org/obo/MONDO_0015159 |
ptosis-syndactyly-learning difficulties syndrome | http://purl.obolibrary.org/obo/MONDO_0016560 | http://purl.obolibrary.org/obo/MONDO_0015159 |
macrocephaly-short stature-paraplegia syndrome | http://purl.obolibrary.org/obo/MONDO_0016571 | http://purl.obolibrary.org/obo/MONDO_0015159 |
lethal multiple congenital anomalies/dysmorphic syndrome | http://purl.obolibrary.org/obo/MONDO_0018731 | http://purl.obolibrary.org/obo/MONDO_0019042 |
genetic lethal multiple congenital anomalies/dysmorphic syndrome | http://purl.obolibrary.org/obo/MONDO_0043009 | http://purl.obolibrary.org/obo/MONDO_0018731 |
lethal polymalformative syndrome, Boissel type | http://purl.obolibrary.org/obo/MONDO_0013050 | http://purl.obolibrary.org/obo/MONDO_0043009 |
Bartsocas-Papas syndrome | http://purl.obolibrary.org/obo/MONDO_0009901 | http://purl.obolibrary.org/obo/MONDO_0043009 |
Meckel syndrome | http://purl.obolibrary.org/obo/MONDO_0018921 | http://purl.obolibrary.org/obo/MONDO_0043009 |
NPHP3-related Meckel-like syndrome | http://purl.obolibrary.org/obo/MONDO_0009966 | http://purl.obolibrary.org/obo/MONDO_0018921 |
genetic multiple congenital anomalies/dysmorphic syndrome | http://purl.obolibrary.org/obo/MONDO_0043005 | http://purl.obolibrary.org/obo/MONDO_0019042 |
respiratory or mediastinal malformation | http://purl.obolibrary.org/obo/MONDO_0020023 | http://purl.obolibrary.org/obo/MONDO_0019755 |
non-syndromic respiratory or mediastinal malformation | http://purl.obolibrary.org/obo/MONDO_0015221 | http://purl.obolibrary.org/obo/MONDO_0020023 |
bronchopulmonary dysplasia | http://purl.obolibrary.org/obo/MONDO_0019091 | http://purl.obolibrary.org/obo/MONDO_0015221 |
congenital pulmonary lymphangiectasia | http://purl.obolibrary.org/obo/MONDO_0009933 | http://purl.obolibrary.org/obo/MONDO_0015221 |
familial primary pulmonary hypoplasia | http://purl.obolibrary.org/obo/MONDO_0009936 | http://purl.obolibrary.org/obo/MONDO_0015221 |
syndromic respiratory or mediastinal malformation | http://purl.obolibrary.org/obo/MONDO_0015222 | http://purl.obolibrary.org/obo/MONDO_0020023 |
lung agenesis-heart defect-thumb anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0011116 | http://purl.obolibrary.org/obo/MONDO_0015222 |
growth delay-hydrocephaly-lung hypoplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0009362 | http://purl.obolibrary.org/obo/MONDO_0015222 |
laryngo-onycho-cutaneous syndrome | http://purl.obolibrary.org/obo/MONDO_0009513 | http://purl.obolibrary.org/obo/MONDO_0015222 |
congenital lobar emphysema | http://purl.obolibrary.org/obo/MONDO_0007536 | http://purl.obolibrary.org/obo/MONDO_0020023 |
central nervous system malformation | http://purl.obolibrary.org/obo/MONDO_0020022 | http://purl.obolibrary.org/obo/MONDO_0019755 |
neural tube defect | http://purl.obolibrary.org/obo/MONDO_0018075 | http://purl.obolibrary.org/obo/MONDO_0020022 |
Chiari malformation type I | http://purl.obolibrary.org/obo/MONDO_0007316 | http://purl.obolibrary.org/obo/MONDO_0018075 |
lateral meningocele syndrome | http://purl.obolibrary.org/obo/MONDO_0007537 | http://purl.obolibrary.org/obo/MONDO_0018075 |
isolated amyelia | http://purl.obolibrary.org/obo/MONDO_0017088 | http://purl.obolibrary.org/obo/MONDO_0018075 |
neurenteric cyst | http://purl.obolibrary.org/obo/MONDO_0017087 | http://purl.obolibrary.org/obo/MONDO_0018075 |
primary tethered cord syndrome | http://purl.obolibrary.org/obo/MONDO_0017086 | http://purl.obolibrary.org/obo/MONDO_0018075 |
neural tube closure defect | http://purl.obolibrary.org/obo/MONDO_0017059 | http://purl.obolibrary.org/obo/MONDO_0018075 |
leptomyelolipoma | http://purl.obolibrary.org/obo/MONDO_0017084 | http://purl.obolibrary.org/obo/MONDO_0017059 |
cephalocele | http://purl.obolibrary.org/obo/MONDO_0017078 | http://purl.obolibrary.org/obo/MONDO_0017059 |
meningoencephalocele | http://purl.obolibrary.org/obo/MONDO_0017079 | http://purl.obolibrary.org/obo/MONDO_0017078 |
isolated encephalocele | http://purl.obolibrary.org/obo/MONDO_0016057 | http://purl.obolibrary.org/obo/MONDO_0017078 |
parietal encephalocele | http://purl.obolibrary.org/obo/MONDO_0017081 | http://purl.obolibrary.org/obo/MONDO_0016057 |
occipital encephalocele | http://purl.obolibrary.org/obo/MONDO_0017080 | http://purl.obolibrary.org/obo/MONDO_0016057 |
basal encephalocele | http://purl.obolibrary.org/obo/MONDO_0017082 | http://purl.obolibrary.org/obo/MONDO_0016057 |
frontal encephalocele | http://purl.obolibrary.org/obo/MONDO_0016020 | http://purl.obolibrary.org/obo/MONDO_0016057 |
lipomyelomeningocele | http://purl.obolibrary.org/obo/MONDO_0012296 | http://purl.obolibrary.org/obo/MONDO_0017059 |
spina bifida | http://www.ebi.ac.uk/efo/EFO_0003105 | http://purl.obolibrary.org/obo/MONDO_0017059 |
isolated spina bifida | http://purl.obolibrary.org/obo/MONDO_0019351 | http://www.ebi.ac.uk/efo/EFO_0003105 |
spina bifida aperta | http://purl.obolibrary.org/obo/MONDO_0017062 | http://purl.obolibrary.org/obo/MONDO_0019351 |
total spina bifida aperta | http://purl.obolibrary.org/obo/MONDO_0017063 | http://purl.obolibrary.org/obo/MONDO_0017062 |
cervicothoracic spina bifida aperta | http://purl.obolibrary.org/obo/MONDO_0017067 | http://purl.obolibrary.org/obo/MONDO_0017062 |
cervical spina bifida aperta | http://purl.obolibrary.org/obo/MONDO_0017066 | http://purl.obolibrary.org/obo/MONDO_0017062 |
lumbosacral spina bifida aperta | http://purl.obolibrary.org/obo/MONDO_0017065 | http://purl.obolibrary.org/obo/MONDO_0017062 |
thoracolumbosacral spina bifida aperta | http://purl.obolibrary.org/obo/MONDO_0017064 | http://purl.obolibrary.org/obo/MONDO_0017062 |
upper thoracic spina bifida aperta | http://purl.obolibrary.org/obo/MONDO_0017068 | http://purl.obolibrary.org/obo/MONDO_0017062 |
spina bifida cystica | http://purl.obolibrary.org/obo/MONDO_0017069 | http://purl.obolibrary.org/obo/MONDO_0019351 |
myelocystocele | http://purl.obolibrary.org/obo/MONDO_0017077 | http://purl.obolibrary.org/obo/MONDO_0017069 |
posterior meningocele | http://purl.obolibrary.org/obo/MONDO_0017076 | http://purl.obolibrary.org/obo/MONDO_0017069 |
myelomeningocele | http://purl.obolibrary.org/obo/MONDO_0019773 | http://purl.obolibrary.org/obo/MONDO_0017069 |
total spina bifida cystica | http://purl.obolibrary.org/obo/MONDO_0017070 | http://purl.obolibrary.org/obo/MONDO_0019773 |
cervicothoracic spina bifida cystica | http://purl.obolibrary.org/obo/MONDO_0017074 | http://purl.obolibrary.org/obo/MONDO_0019773 |
cervical spina bifida cystica | http://purl.obolibrary.org/obo/MONDO_0017073 | http://purl.obolibrary.org/obo/MONDO_0019773 |
lumbosacral spina bifida cystica | http://purl.obolibrary.org/obo/MONDO_0017072 | http://purl.obolibrary.org/obo/MONDO_0019773 |
thoracolumbosacral spina bifida cystica | http://purl.obolibrary.org/obo/MONDO_0017071 | http://purl.obolibrary.org/obo/MONDO_0019773 |
upper thoracic spina bifida cystica | http://purl.obolibrary.org/obo/MONDO_0017075 | http://purl.obolibrary.org/obo/MONDO_0019773 |
Chiari malformation type II | http://purl.obolibrary.org/obo/MONDO_0008816 | http://purl.obolibrary.org/obo/MONDO_0017069 |
iniencephaly | http://purl.obolibrary.org/obo/MONDO_0018968 | http://purl.obolibrary.org/obo/MONDO_0017059 |
closed iniencephaly | http://purl.obolibrary.org/obo/MONDO_0017061 | http://purl.obolibrary.org/obo/MONDO_0018968 |
open iniencephaly | http://purl.obolibrary.org/obo/MONDO_0017060 | http://purl.obolibrary.org/obo/MONDO_0018968 |
craniorachischisis | http://purl.obolibrary.org/obo/MONDO_0018969 | http://purl.obolibrary.org/obo/MONDO_0017059 |
diastematomyelia | http://purl.obolibrary.org/obo/MONDO_0009106 | http://purl.obolibrary.org/obo/MONDO_0018075 |
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | http://purl.obolibrary.org/obo/MONDO_0014314 | http://purl.obolibrary.org/obo/MONDO_0018075 |
Hoyeraal-Hreidarsson syndrome | http://purl.obolibrary.org/obo/MONDO_0018045 | http://purl.obolibrary.org/obo/MONDO_0020022 |
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | http://purl.obolibrary.org/obo/MONDO_0100283 | http://purl.obolibrary.org/obo/MONDO_0020022 |
megalencephaly-capillary malformation-polymicrogyria syndrome | http://purl.obolibrary.org/obo/MONDO_0011240 | http://purl.obolibrary.org/obo/MONDO_0100283 |
hemimegalencephaly | http://purl.obolibrary.org/obo/MONDO_0020492 | http://purl.obolibrary.org/obo/MONDO_0100283 |
isolated focal cortical dysplasia | http://purl.obolibrary.org/obo/MONDO_0019009 | http://purl.obolibrary.org/obo/MONDO_0100283 |
isolated focal cortical dysplasia type II | http://purl.obolibrary.org/obo/MONDO_0011818 | http://purl.obolibrary.org/obo/MONDO_0019009 |
isolated focal cortical dysplasia type IIb | http://purl.obolibrary.org/obo/MONDO_0017102 | http://purl.obolibrary.org/obo/MONDO_0011818 |
isolated focal cortical dysplasia type IIa | http://purl.obolibrary.org/obo/MONDO_0017101 | http://purl.obolibrary.org/obo/MONDO_0011818 |
isolated focal cortical dysplasia type I | http://purl.obolibrary.org/obo/MONDO_0017095 | http://purl.obolibrary.org/obo/MONDO_0019009 |
isolated focal cortical dysplasia type Ia | http://purl.obolibrary.org/obo/MONDO_0017096 | http://purl.obolibrary.org/obo/MONDO_0017095 |
isolated focal cortical dysplasia type Ic | http://purl.obolibrary.org/obo/MONDO_0017098 | http://purl.obolibrary.org/obo/MONDO_0017095 |
isolated focal cortical dysplasia type Ib | http://purl.obolibrary.org/obo/MONDO_0017097 | http://purl.obolibrary.org/obo/MONDO_0017095 |
Joubert syndrome with ocular defect | http://purl.obolibrary.org/obo/MONDO_0016364 | http://purl.obolibrary.org/obo/MONDO_0020022 |
cerebral malformation | http://purl.obolibrary.org/obo/MONDO_0016054 | http://purl.obolibrary.org/obo/MONDO_0020022 |
sporadic fetal brain disruption sequence | http://purl.obolibrary.org/obo/MONDO_0015660 | http://purl.obolibrary.org/obo/MONDO_0016054 |
NDE1-related microhydranencephaly | http://purl.obolibrary.org/obo/MONDO_0011504 | http://purl.obolibrary.org/obo/MONDO_0015660 |
occipital pachygyria and polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0013583 | http://purl.obolibrary.org/obo/MONDO_0016054 |
diencephalic-mesencephalic junction dysplasia | http://purl.obolibrary.org/obo/MONDO_0017868 | http://purl.obolibrary.org/obo/MONDO_0016054 |
hypothalamic hamartomas with gelastic seizures | http://purl.obolibrary.org/obo/MONDO_0019484 | http://purl.obolibrary.org/obo/MONDO_0016054 |
encephaloclastic disorder | http://purl.obolibrary.org/obo/MONDO_0017103 | http://purl.obolibrary.org/obo/MONDO_0016054 |
porencephaly | http://purl.obolibrary.org/obo/MONDO_0017410 | http://purl.obolibrary.org/obo/MONDO_0017103 |
acquired porencephaly | http://purl.obolibrary.org/obo/MONDO_0017815 | http://purl.obolibrary.org/obo/MONDO_0017410 |
familial porencephaly | http://purl.obolibrary.org/obo/MONDO_0020496 | http://purl.obolibrary.org/obo/MONDO_0017410 |
brain small vessel disease 1 with or without ocular anomalies | http://purl.obolibrary.org/obo/MONDO_0008289 | http://purl.obolibrary.org/obo/MONDO_0020496 |
schizencephaly | http://purl.obolibrary.org/obo/MONDO_0010011 | http://purl.obolibrary.org/obo/MONDO_0017103 |
familial schizencephaly | http://purl.obolibrary.org/obo/MONDO_0018829 | http://purl.obolibrary.org/obo/MONDO_0010011 |
acquired schizencephaly | http://purl.obolibrary.org/obo/MONDO_0018839 | http://purl.obolibrary.org/obo/MONDO_0010011 |
hydranencephaly | http://purl.obolibrary.org/obo/MONDO_0016344 | http://purl.obolibrary.org/obo/MONDO_0017103 |
midline cerebral malformation | http://purl.obolibrary.org/obo/MONDO_0017090 | http://purl.obolibrary.org/obo/MONDO_0016054 |
aprosencephaly cerebellar dysgenesis | http://purl.obolibrary.org/obo/MONDO_0011062 | http://purl.obolibrary.org/obo/MONDO_0017090 |
duplication of the pituitary gland | http://purl.obolibrary.org/obo/MONDO_0017808 | http://purl.obolibrary.org/obo/MONDO_0017090 |
microform holoprosencephaly | http://purl.obolibrary.org/obo/MONDO_0017219 | http://purl.obolibrary.org/obo/MONDO_0017090 |
cerebral cortical dysplasia | http://purl.obolibrary.org/obo/MONDO_0017094 | http://purl.obolibrary.org/obo/MONDO_0016054 |
central bilateral macrogyria | http://purl.obolibrary.org/obo/MONDO_0016572 | http://purl.obolibrary.org/obo/MONDO_0017094 |
autosomal recessive frontotemporal pachygyria | http://purl.obolibrary.org/obo/MONDO_0012462 | http://purl.obolibrary.org/obo/MONDO_0016054 |
isolated congenital microcephaly | http://purl.obolibrary.org/obo/MONDO_0016056 | http://purl.obolibrary.org/obo/MONDO_0016054 |
autosomal recessive primary microcephaly | http://purl.obolibrary.org/obo/MONDO_0016660 | http://purl.obolibrary.org/obo/MONDO_0016056 |
microcephaly 1, primary, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0009617 | http://purl.obolibrary.org/obo/MONDO_0016660 |
megalencephaly | http://purl.obolibrary.org/obo/MONDO_0016608 | http://purl.obolibrary.org/obo/MONDO_0016054 |
isolated megalencephaly | http://purl.obolibrary.org/obo/MONDO_0017089 | http://purl.obolibrary.org/obo/MONDO_0016608 |
macrocephaly/megalencephaly syndrome, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0009544 | http://purl.obolibrary.org/obo/MONDO_0016608 |
partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome | http://purl.obolibrary.org/obo/MONDO_0018430 | http://purl.obolibrary.org/obo/MONDO_0016054 |
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | http://purl.obolibrary.org/obo/MONDO_0012192 | http://purl.obolibrary.org/obo/MONDO_0020022 |
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | http://purl.obolibrary.org/obo/MONDO_0014419 | http://purl.obolibrary.org/obo/MONDO_0020022 |
X-linked cerebral-cerebellar-coloboma syndrome syndrome | http://purl.obolibrary.org/obo/MONDO_0010464 | http://purl.obolibrary.org/obo/MONDO_0020022 |
Joubert syndrome with oculorenal defect | http://purl.obolibrary.org/obo/MONDO_0009480 | http://purl.obolibrary.org/obo/MONDO_0020022 |
X-linked intellectual disability-cerebellar hypoplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0010337 | http://purl.obolibrary.org/obo/MONDO_0020022 |
cervical hypertrichosis-peripheral neuropathy syndrome | http://purl.obolibrary.org/obo/MONDO_0009405 | http://purl.obolibrary.org/obo/MONDO_0020022 |
syndromic X-linked intellectual disability Najm type | http://purl.obolibrary.org/obo/MONDO_0010417 | http://purl.obolibrary.org/obo/MONDO_0020022 |
Dandy-Walker malformation-postaxial polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009075 | http://purl.obolibrary.org/obo/MONDO_0020022 |
spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome | http://purl.obolibrary.org/obo/MONDO_0019132 | http://purl.obolibrary.org/obo/MONDO_0020022 |
posterior fossa malformation | http://purl.obolibrary.org/obo/MONDO_0020133 | http://purl.obolibrary.org/obo/MONDO_0020022 |
cerebellar malformation | http://purl.obolibrary.org/obo/MONDO_0015915 | http://purl.obolibrary.org/obo/MONDO_0020133 |
malformation of the cerebellar vermis | http://purl.obolibrary.org/obo/MONDO_0020130 | http://purl.obolibrary.org/obo/MONDO_0015915 |
Joubert syndrome | http://purl.obolibrary.org/obo/MONDO_0018772 | http://purl.obolibrary.org/obo/MONDO_0020130 |
Joubert syndrome 17 | http://purl.obolibrary.org/obo/MONDO_0013824 | http://purl.obolibrary.org/obo/MONDO_0018772 |
Joubert syndrome 38 | http://purl.obolibrary.org/obo/MONDO_0030353 | http://purl.obolibrary.org/obo/MONDO_0018772 |
Joubert syndrome 36 | http://purl.obolibrary.org/obo/MONDO_0032902 | http://purl.obolibrary.org/obo/MONDO_0018772 |
Joubert syndrome with renal defect | http://purl.obolibrary.org/obo/MONDO_0012308 | http://purl.obolibrary.org/obo/MONDO_0018772 |
Dandy-Walker syndrome | http://www.ebi.ac.uk/efo/EFO_1000890 | http://purl.obolibrary.org/obo/MONDO_0020130 |
Isolated Dandy-Walker malformation with hydrocephalus | http://www.orpha.net/ORDO/Orphanet_269212 | http://www.ebi.ac.uk/efo/EFO_1000890 |
Isolated Dandy-Walker malformation without hydrocephalus | http://www.orpha.net/ORDO/Orphanet_269215 | http://www.ebi.ac.uk/efo/EFO_1000890 |
isolated Dandy-Walker malformation without hydrocephalus | http://purl.obolibrary.org/obo/MONDO_0017111 | http://www.ebi.ac.uk/efo/EFO_1000890 |
isolated Dandy-Walker malformation with hydrocephalus | http://purl.obolibrary.org/obo/MONDO_0017110 | http://www.ebi.ac.uk/efo/EFO_1000890 |
global cerebellar malformation | http://purl.obolibrary.org/obo/MONDO_0017114 | http://purl.obolibrary.org/obo/MONDO_0015915 |
isolated cerebellar hypoplasia/agenesis | http://purl.obolibrary.org/obo/MONDO_0008939 | http://purl.obolibrary.org/obo/MONDO_0017114 |
cystic malformation of the posterior fossa | http://purl.obolibrary.org/obo/MONDO_0020134 | http://purl.obolibrary.org/obo/MONDO_0020133 |
pontocerebellar hypoplasia | http://purl.obolibrary.org/obo/MONDO_0020135 | http://purl.obolibrary.org/obo/MONDO_0020133 |
pontocerebellar hypoplasia type 8 | http://purl.obolibrary.org/obo/MONDO_0013990 | http://purl.obolibrary.org/obo/MONDO_0020135 |
pontocerebellar hypoplasia type 7 | http://purl.obolibrary.org/obo/MONDO_0013993 | http://purl.obolibrary.org/obo/MONDO_0020135 |
pontocerebellar hypoplasia type 3 | http://purl.obolibrary.org/obo/MONDO_0011948 | http://purl.obolibrary.org/obo/MONDO_0020135 |
pontocerebellar hypoplasia type 5 | http://purl.obolibrary.org/obo/MONDO_0012438 | http://purl.obolibrary.org/obo/MONDO_0020135 |
pontocerebellar hypoplasia type 6 | http://purl.obolibrary.org/obo/MONDO_0012683 | http://purl.obolibrary.org/obo/MONDO_0020135 |
pontocerebellar hypoplasia type 4 | http://purl.obolibrary.org/obo/MONDO_0009166 | http://purl.obolibrary.org/obo/MONDO_0020135 |
pontocerebellar hypoplasia type 9 | http://purl.obolibrary.org/obo/MONDO_0014351 | http://purl.obolibrary.org/obo/MONDO_0020135 |
pontocerebellar hypoplasia type 10 | http://purl.obolibrary.org/obo/MONDO_0014349 | http://purl.obolibrary.org/obo/MONDO_0020135 |
pontocerebellar hypoplasia type 1 | http://purl.obolibrary.org/obo/MONDO_0016396 | http://purl.obolibrary.org/obo/MONDO_0020135 |
pontocerebellar hypoplasia type 2 | http://purl.obolibrary.org/obo/MONDO_0016759 | http://purl.obolibrary.org/obo/MONDO_0020135 |
cranial nerve and nuclear aplasia | http://purl.obolibrary.org/obo/MONDO_0020132 | http://purl.obolibrary.org/obo/MONDO_0020022 |
isolated hereditary congenital facial paralysis | http://purl.obolibrary.org/obo/MONDO_0011090 | http://purl.obolibrary.org/obo/MONDO_0020132 |
congenital hereditary facial paralysis-variable hearing loss syndrome | http://purl.obolibrary.org/obo/MONDO_0017627 | http://purl.obolibrary.org/obo/MONDO_0020132 |
congenital achiasma | http://purl.obolibrary.org/obo/MONDO_0017929 | http://purl.obolibrary.org/obo/MONDO_0020132 |
Duane retraction syndrome | http://purl.obolibrary.org/obo/MONDO_0007473 | http://purl.obolibrary.org/obo/MONDO_0020132 |
non-syndromic central nervous system malformation | http://purl.obolibrary.org/obo/MONDO_0015219 | http://purl.obolibrary.org/obo/MONDO_0020022 |
central nervous system cystic malformation | http://purl.obolibrary.org/obo/MONDO_0017104 | http://purl.obolibrary.org/obo/MONDO_0015219 |
arachnoid cyst | http://purl.obolibrary.org/obo/MONDO_0008813 | http://purl.obolibrary.org/obo/MONDO_0017104 |
B4GALT1-CDG | http://purl.obolibrary.org/obo/MONDO_0011772 | http://purl.obolibrary.org/obo/MONDO_0020022 |
Gomez-Lopez-Hernandez syndrome | http://purl.obolibrary.org/obo/MONDO_0011157 | http://purl.obolibrary.org/obo/MONDO_0020022 |
diaphragmatic or abdominal wall malformation | http://purl.obolibrary.org/obo/MONDO_0020021 | http://purl.obolibrary.org/obo/MONDO_0019755 |
non-syndromic diaphragmatic or abdominal wall malformation | http://purl.obolibrary.org/obo/MONDO_0015215 | http://purl.obolibrary.org/obo/MONDO_0020021 |
congenital diaphragmatic hernia | http://www.ebi.ac.uk/efo/EFO_0007216 | http://purl.obolibrary.org/obo/MONDO_0015215 |
diaphragmatic hernia 3 | http://purl.obolibrary.org/obo/MONDO_0012431 | http://www.ebi.ac.uk/efo/EFO_0007216 |
gastroschisis | http://www.ebi.ac.uk/efo/EFO_1000949 | http://purl.obolibrary.org/obo/MONDO_0015215 |
syndromic diaphragmatic or abdominal wall malformation | http://purl.obolibrary.org/obo/MONDO_0015216 | http://purl.obolibrary.org/obo/MONDO_0020021 |
Ehlers-Danlos syndrome due to tenascin-X deficiency | http://purl.obolibrary.org/obo/MONDO_0011670 | http://purl.obolibrary.org/obo/MONDO_0015216 |
pericardial and diaphragmatic defect | http://purl.obolibrary.org/obo/MONDO_0017301 | http://purl.obolibrary.org/obo/MONDO_0015216 |
Ehlers-Danlos syndrome, classic type | http://purl.obolibrary.org/obo/MONDO_0007522 | http://purl.obolibrary.org/obo/MONDO_0015216 |
Ehlers-Danlos syndrome, classic type, 1 | http://purl.obolibrary.org/obo/MONDO_0019567 | http://purl.obolibrary.org/obo/MONDO_0007522 |
Ehlers-Danlos syndrome, classic type, 2 | http://purl.obolibrary.org/obo/MONDO_0019568 | http://purl.obolibrary.org/obo/MONDO_0007522 |
Ehlers-Danlos syndrome type 1 | http://www.orpha.net/ORDO/Orphanet_90309 | http://purl.obolibrary.org/obo/MONDO_0007522 |
Ehlers-Danlos syndrome type 2 | http://www.orpha.net/ORDO/Orphanet_90318 | http://purl.obolibrary.org/obo/MONDO_0007522 |
familial omphalocele syndrome with facial dysmorphism | http://purl.obolibrary.org/obo/MONDO_0017235 | http://purl.obolibrary.org/obo/MONDO_0015216 |
Emanuel syndrome | http://purl.obolibrary.org/obo/MONDO_0012176 | http://purl.obolibrary.org/obo/MONDO_0015216 |
cutis laxa | http://purl.obolibrary.org/obo/MONDO_0016175 | http://purl.obolibrary.org/obo/MONDO_0015216 |
acquired cutis laxa | http://purl.obolibrary.org/obo/MONDO_0016446 | http://purl.obolibrary.org/obo/MONDO_0016175 |
inherited cutis laxa | http://purl.obolibrary.org/obo/MONDO_0100237 | http://purl.obolibrary.org/obo/MONDO_0016175 |
PYCR1-related de Barsy syndrome | http://purl.obolibrary.org/obo/MONDO_0013755 | http://purl.obolibrary.org/obo/MONDO_0100237 |
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | http://purl.obolibrary.org/obo/MONDO_0013170 | http://purl.obolibrary.org/obo/MONDO_0100237 |
RIN2 syndrome | http://purl.obolibrary.org/obo/MONDO_0013115 | http://purl.obolibrary.org/obo/MONDO_0100237 |
autosomal dominant cutis laxa | http://purl.obolibrary.org/obo/MONDO_0019571 | http://purl.obolibrary.org/obo/MONDO_0100237 |
autosomal recessive cutis laxa type 1 | http://purl.obolibrary.org/obo/MONDO_0019572 | http://purl.obolibrary.org/obo/MONDO_0100237 |
ALDH18A1-related de Barsy syndrome | http://purl.obolibrary.org/obo/MONDO_0009053 | http://purl.obolibrary.org/obo/MONDO_0100237 |
geroderma osteodysplastica | http://purl.obolibrary.org/obo/MONDO_0009271 | http://purl.obolibrary.org/obo/MONDO_0100237 |
arterial tortuosity syndrome | http://purl.obolibrary.org/obo/MONDO_0008818 | http://purl.obolibrary.org/obo/MONDO_0100237 |
visceral malformation of the liver, biliary tract, pancreas or spleen | http://purl.obolibrary.org/obo/MONDO_0020020 | http://purl.obolibrary.org/obo/MONDO_0019755 |
non-syndromic visceral malformation | http://purl.obolibrary.org/obo/MONDO_0015213 | http://purl.obolibrary.org/obo/MONDO_0020020 |
annular pancreas | http://purl.obolibrary.org/obo/MONDO_0008183 | http://purl.obolibrary.org/obo/MONDO_0015213 |
Caroli Disease | http://www.ebi.ac.uk/efo/EFO_1001286 | http://purl.obolibrary.org/obo/MONDO_0015213 |
accessory pancreas | http://purl.obolibrary.org/obo/MONDO_0019034 | http://purl.obolibrary.org/obo/MONDO_0015213 |
pancreatic agenesis | http://purl.obolibrary.org/obo/MONDO_0009832 | http://purl.obolibrary.org/obo/MONDO_0015213 |
familial isolated congenital asplenia | http://purl.obolibrary.org/obo/MONDO_0010066 | http://purl.obolibrary.org/obo/MONDO_0015213 |
biliary atresia | http://purl.obolibrary.org/obo/MONDO_0008867 | http://purl.obolibrary.org/obo/MONDO_0015213 |
syndromic visceral malformation | http://purl.obolibrary.org/obo/MONDO_0015214 | http://purl.obolibrary.org/obo/MONDO_0020020 |
renal-hepatic-pancreatic dysplasia | http://purl.obolibrary.org/obo/MONDO_0017417 | http://purl.obolibrary.org/obo/MONDO_0015214 |
congenital limb malformation | http://purl.obolibrary.org/obo/MONDO_0019054 | http://purl.obolibrary.org/obo/MONDO_0019755 |
acropectoral syndrome | http://purl.obolibrary.org/obo/MONDO_0011621 | http://purl.obolibrary.org/obo/MONDO_0019054 |
crossed polysyndactyly | http://purl.obolibrary.org/obo/MONDO_0008286 | http://purl.obolibrary.org/obo/MONDO_0019054 |
fibular dimelia-diplopodia syndrome | http://purl.obolibrary.org/obo/MONDO_0015773 | http://purl.obolibrary.org/obo/MONDO_0019054 |
cocoon syndrome | http://purl.obolibrary.org/obo/MONDO_0013334 | http://purl.obolibrary.org/obo/MONDO_0019054 |
triphalangeal thumb-polysyndactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0017454 | http://purl.obolibrary.org/obo/MONDO_0019054 |
camptodactyly-taurinuria syndrome | http://purl.obolibrary.org/obo/MONDO_0015272 | http://purl.obolibrary.org/obo/MONDO_0019054 |
arthrogryposis syndrome | http://purl.obolibrary.org/obo/MONDO_0015225 | http://purl.obolibrary.org/obo/MONDO_0019054 |
distal arthrogryposis | http://purl.obolibrary.org/obo/MONDO_0019942 | http://purl.obolibrary.org/obo/MONDO_0015225 |
Ehlers-Danlos syndrome, musculocontractural type | http://purl.obolibrary.org/obo/MONDO_0011142 | http://purl.obolibrary.org/obo/MONDO_0019942 |
Sheldon-hall syndrome | http://purl.obolibrary.org/obo/MONDO_0011128 | http://purl.obolibrary.org/obo/MONDO_0019942 |
arthrogryposis, distal, type 2B3 | http://purl.obolibrary.org/obo/MONDO_0032751 | http://purl.obolibrary.org/obo/MONDO_0011128 |
distal arthrogryposis type 2B1 | http://purl.obolibrary.org/obo/MONDO_0020820 | http://purl.obolibrary.org/obo/MONDO_0011128 |
trismus-pseudocamptodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0008016 | http://purl.obolibrary.org/obo/MONDO_0019942 |
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | http://purl.obolibrary.org/obo/MONDO_0008338 | http://purl.obolibrary.org/obo/MONDO_0019942 |
arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0007158 | http://purl.obolibrary.org/obo/MONDO_0019942 |
congenital contractural arachnodactyly | http://purl.obolibrary.org/obo/MONDO_0007363 | http://purl.obolibrary.org/obo/MONDO_0019942 |
autism spectrum disorder - epilepsy - arthrogryposis syndrome | http://purl.obolibrary.org/obo/MONDO_0014248 | http://purl.obolibrary.org/obo/MONDO_0019942 |
arthrogryposis-severe scoliosis syndrome | http://purl.obolibrary.org/obo/MONDO_0012195 | http://purl.obolibrary.org/obo/MONDO_0019942 |
distal arthrogryposis type 5D | http://purl.obolibrary.org/obo/MONDO_0014028 | http://purl.obolibrary.org/obo/MONDO_0019942 |
distal arthrogryposis type 10 | http://purl.obolibrary.org/obo/MONDO_0016675 | http://purl.obolibrary.org/obo/MONDO_0019942 |
lethal congenital contracture syndrome | http://purl.obolibrary.org/obo/MONDO_0017436 | http://purl.obolibrary.org/obo/MONDO_0015225 |
fetal akinesia-cerebral and retinal hemorrhage syndrome | http://purl.obolibrary.org/obo/MONDO_0014149 | http://purl.obolibrary.org/obo/MONDO_0017436 |
popliteal pterygium syndrome | http://purl.obolibrary.org/obo/MONDO_0017435 | http://purl.obolibrary.org/obo/MONDO_0015225 |
multiple pterygium syndrome | http://purl.obolibrary.org/obo/MONDO_0017415 | http://purl.obolibrary.org/obo/MONDO_0015225 |
contractures, pterygia, and variable skeletal fusions syndrome | http://purl.obolibrary.org/obo/MONDO_0020937 | http://purl.obolibrary.org/obo/MONDO_0017415 |
arthrogryposis multiplex congenita | http://purl.obolibrary.org/obo/MONDO_0015168 | http://purl.obolibrary.org/obo/MONDO_0015225 |
Wieacker-Wolff syndrome (spectrum) | http://purl.obolibrary.org/obo/MONDO_0025445 | http://purl.obolibrary.org/obo/MONDO_0015168 |
arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum | http://purl.obolibrary.org/obo/MONDO_0032903 | http://purl.obolibrary.org/obo/MONDO_0015168 |
arthrogryposis-like syndrome | http://purl.obolibrary.org/obo/MONDO_0015241 | http://purl.obolibrary.org/obo/MONDO_0015168 |
autosomal recessive myogenic arthrogryposis multiplex congenita | http://purl.obolibrary.org/obo/MONDO_0017892 | http://purl.obolibrary.org/obo/MONDO_0015168 |
hypomyelination neuropathy-arthrogryposis syndrome | http://purl.obolibrary.org/obo/MONDO_0017049 | http://purl.obolibrary.org/obo/MONDO_0015168 |
lethal arthrogryposis-anterior horn cell disease syndrome | http://purl.obolibrary.org/obo/MONDO_0012750 | http://purl.obolibrary.org/obo/MONDO_0015168 |
multiple pterygium-malignant hyperthermia syndrome | http://purl.obolibrary.org/obo/MONDO_0009012 | http://purl.obolibrary.org/obo/MONDO_0015168 |
infantile-onset X-linked spinal muscular atrophy | http://purl.obolibrary.org/obo/MONDO_0010532 | http://purl.obolibrary.org/obo/MONDO_0015168 |
arthrogryposis due to muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0009679 | http://purl.obolibrary.org/obo/MONDO_0015168 |
prenatal-onset spinal muscular atrophy with congenital bone fractures | http://purl.obolibrary.org/obo/MONDO_0000209 | http://purl.obolibrary.org/obo/MONDO_0015168 |
spinal muscular atrophy with congenital bone fractures 2 | http://purl.obolibrary.org/obo/MONDO_0014807 | http://purl.obolibrary.org/obo/MONDO_0000209 |
spinal muscular atrophy with congenital bone fractures 1 | http://purl.obolibrary.org/obo/MONDO_0014806 | http://purl.obolibrary.org/obo/MONDO_0000209 |
arthrogryposis multiplex congenita 5 | http://purl.obolibrary.org/obo/MONDO_0100218 | http://purl.obolibrary.org/obo/MONDO_0015168 |
adducted thumbs-arthrogryposis syndrome, Christian type | http://purl.obolibrary.org/obo/MONDO_0008724 | http://purl.obolibrary.org/obo/MONDO_0015168 |
arthrogryposis multiplex congenita 2, neurogenic type | http://purl.obolibrary.org/obo/MONDO_0008823 | http://purl.obolibrary.org/obo/MONDO_0015168 |
arthrogryposis multiplex congenita-whistling face syndrome | http://purl.obolibrary.org/obo/MONDO_0008825 | http://purl.obolibrary.org/obo/MONDO_0015168 |
arthrogryposis-hyperkeratosis syndrome, lethal form | http://purl.obolibrary.org/obo/MONDO_0008826 | http://purl.obolibrary.org/obo/MONDO_0015168 |
non-syndromic limb malformation | http://purl.obolibrary.org/obo/MONDO_0015227 | http://purl.obolibrary.org/obo/MONDO_0019054 |
non-syndromic congenital joint dislocations | http://purl.obolibrary.org/obo/MONDO_0017430 | http://purl.obolibrary.org/obo/MONDO_0015227 |
congenital knee dislocation | http://purl.obolibrary.org/obo/MONDO_0017470 | http://purl.obolibrary.org/obo/MONDO_0017430 |
congenital genu flexum | http://purl.obolibrary.org/obo/MONDO_0017561 | http://purl.obolibrary.org/obo/MONDO_0017470 |
congenital genu recurvatum | http://purl.obolibrary.org/obo/MONDO_0017560 | http://purl.obolibrary.org/obo/MONDO_0017470 |
congenital patella dislocation | http://purl.obolibrary.org/obo/MONDO_0017471 | http://purl.obolibrary.org/obo/MONDO_0017430 |
congenital patella dislocation, unilateral | http://purl.obolibrary.org/obo/MONDO_0017562 | http://purl.obolibrary.org/obo/MONDO_0017471 |
congenital patella dislocation, bilateral | http://purl.obolibrary.org/obo/MONDO_0017563 | http://purl.obolibrary.org/obo/MONDO_0017471 |
congenital elbow dislocation | http://purl.obolibrary.org/obo/MONDO_0017469 | http://purl.obolibrary.org/obo/MONDO_0017430 |
congenital elbow dislocation, bilateral | http://purl.obolibrary.org/obo/MONDO_0017559 | http://purl.obolibrary.org/obo/MONDO_0017469 |
congenital elbow dislocation, unilateral | http://purl.obolibrary.org/obo/MONDO_0017558 | http://purl.obolibrary.org/obo/MONDO_0017469 |
congenital shoulder dislocation | http://purl.obolibrary.org/obo/MONDO_0017468 | http://purl.obolibrary.org/obo/MONDO_0017430 |
non-syndromic limb overgrowth | http://purl.obolibrary.org/obo/MONDO_0017431 | http://purl.obolibrary.org/obo/MONDO_0015227 |
macrodactyly of fingers | http://purl.obolibrary.org/obo/MONDO_0017474 | http://purl.obolibrary.org/obo/MONDO_0017431 |
macrodactyly of fingers, bilateral | http://purl.obolibrary.org/obo/MONDO_0017565 | http://purl.obolibrary.org/obo/MONDO_0017474 |
macrodactyly of fingers, unilateral | http://purl.obolibrary.org/obo/MONDO_0017564 | http://purl.obolibrary.org/obo/MONDO_0017474 |
lower limb hypertrophy | http://purl.obolibrary.org/obo/MONDO_0017477 | http://purl.obolibrary.org/obo/MONDO_0017431 |
upper limb hypertrophy | http://purl.obolibrary.org/obo/MONDO_0017476 | http://purl.obolibrary.org/obo/MONDO_0017431 |
macrodactyly of toes | http://purl.obolibrary.org/obo/MONDO_0017475 | http://purl.obolibrary.org/obo/MONDO_0017431 |
macrodactyly of toes, unilateral | http://purl.obolibrary.org/obo/MONDO_0017566 | http://purl.obolibrary.org/obo/MONDO_0017475 |
macrodactyly of toes, bilateral | http://purl.obolibrary.org/obo/MONDO_0017567 | http://purl.obolibrary.org/obo/MONDO_0017475 |
congenital deformities of limbs | http://purl.obolibrary.org/obo/MONDO_0017427 | http://purl.obolibrary.org/obo/MONDO_0015227 |
congenital deformities of fingers | http://purl.obolibrary.org/obo/MONDO_0017428 | http://purl.obolibrary.org/obo/MONDO_0017427 |
familial isolated clinodactyly of fingers | http://purl.obolibrary.org/obo/MONDO_0017461 | http://purl.obolibrary.org/obo/MONDO_0017428 |
camptodactyly of fingers | http://purl.obolibrary.org/obo/MONDO_0007250 | http://purl.obolibrary.org/obo/MONDO_0017428 |
congenital vertical talus | http://purl.obolibrary.org/obo/MONDO_0008652 | http://purl.obolibrary.org/obo/MONDO_0017427 |
congenital vertical talus, bilateral | http://purl.obolibrary.org/obo/MONDO_0017547 | http://purl.obolibrary.org/obo/MONDO_0008652 |
congenital vertical talus, unilateral | http://purl.obolibrary.org/obo/MONDO_0017546 | http://purl.obolibrary.org/obo/MONDO_0008652 |
Cooks syndrome | http://purl.obolibrary.org/obo/MONDO_0007134 | http://purl.obolibrary.org/obo/MONDO_0019054 |
brachydactyly-preaxial hallux varus syndrome | http://purl.obolibrary.org/obo/MONDO_0007214 | http://purl.obolibrary.org/obo/MONDO_0019054 |
Emery-Nelson syndrome | http://purl.obolibrary.org/obo/MONDO_0007696 | http://purl.obolibrary.org/obo/MONDO_0019054 |
laurin-Sandrow syndrome | http://purl.obolibrary.org/obo/MONDO_0007615 | http://purl.obolibrary.org/obo/MONDO_0019054 |
Leri pleonosteosis | http://purl.obolibrary.org/obo/MONDO_0007894 | http://purl.obolibrary.org/obo/MONDO_0019054 |
Cenani-Lenz syndactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0008931 | http://purl.obolibrary.org/obo/MONDO_0019054 |
triphalangeal thumbs-brachyectrodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0008607 | http://purl.obolibrary.org/obo/MONDO_0019054 |
Say-field-Coldwell syndrome | http://purl.obolibrary.org/obo/MONDO_0008606 | http://purl.obolibrary.org/obo/MONDO_0019054 |
extensor tendons of finger anomalies | http://purl.obolibrary.org/obo/MONDO_0008540 | http://purl.obolibrary.org/obo/MONDO_0019054 |
thumb stiffness-brachydactyly-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0008563 | http://purl.obolibrary.org/obo/MONDO_0019054 |
thumb deformity-alopecia-pigmentation anomaly syndrome | http://purl.obolibrary.org/obo/MONDO_0008562 | http://purl.obolibrary.org/obo/MONDO_0019054 |
syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome | http://purl.obolibrary.org/obo/MONDO_0014069 | http://purl.obolibrary.org/obo/MONDO_0019054 |
ulnar/fibula ray defect-brachydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0012063 | http://purl.obolibrary.org/obo/MONDO_0019054 |
Mononen-Karnes-Senac syndrome | http://purl.obolibrary.org/obo/MONDO_0010538 | http://purl.obolibrary.org/obo/MONDO_0019054 |
hallux varus-preaxial polysyndactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009321 | http://purl.obolibrary.org/obo/MONDO_0019054 |
ectrodactyly-polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009156 | http://purl.obolibrary.org/obo/MONDO_0019054 |
Ehlers-Danlos syndrome | http://purl.obolibrary.org/obo/MONDO_0020066 | http://purl.obolibrary.org/obo/MONDO_0019755 |
Ehlers-Danlos syndrome with periventricular heterotopia | http://www.orpha.net/ORDO/Orphanet_82004 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, vascular type | http://purl.obolibrary.org/obo/MONDO_0017314 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, classic-like, 2 | http://purl.obolibrary.org/obo/MONDO_0054813 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, hypermobility type | http://purl.obolibrary.org/obo/MONDO_0007523 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, arthrochalasis type | http://purl.obolibrary.org/obo/MONDO_0007525 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome type 7A | http://purl.obolibrary.org/obo/MONDO_0020521 | http://purl.obolibrary.org/obo/MONDO_0007525 |
Ehlers-Danlos syndrome type 7B | http://purl.obolibrary.org/obo/MONDO_0020522 | http://purl.obolibrary.org/obo/MONDO_0007525 |
Ehlers-Danlos syndrome, periodontitis type | http://purl.obolibrary.org/obo/MONDO_0007527 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, spondylodysplastic type | http://purl.obolibrary.org/obo/MONDO_0007526 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome type 11 | http://purl.obolibrary.org/obo/MONDO_0007842 | http://purl.obolibrary.org/obo/MONDO_0020066 |
kyphoscoliotic Ehlers-Danlos syndrome | http://purl.obolibrary.org/obo/MONDO_0034024 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | http://purl.obolibrary.org/obo/MONDO_0013800 | http://purl.obolibrary.org/obo/MONDO_0034024 |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 | http://purl.obolibrary.org/obo/MONDO_0016002 | http://purl.obolibrary.org/obo/MONDO_0034024 |
Bethlem myopathy 2 | http://purl.obolibrary.org/obo/MONDO_0034022 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, dermatosparaxis type | http://purl.obolibrary.org/obo/MONDO_0009161 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, fibronectinemic type | http://purl.obolibrary.org/obo/MONDO_0009158 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, cardiac valvular type | http://purl.obolibrary.org/obo/MONDO_0009159 | http://purl.obolibrary.org/obo/MONDO_0020066 |
brittle cornea syndrome | http://purl.obolibrary.org/obo/MONDO_0009242 | http://purl.obolibrary.org/obo/MONDO_0020066 |
X-linked Ehlers-Danlos syndrome | http://purl.obolibrary.org/obo/MONDO_0010586 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, progeroid type | http://www.orpha.net/ORDO/Orphanet_75496 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos/osteogenesis imperfecta syndrome | http://purl.obolibrary.org/obo/MONDO_0016470 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, vascular-like type | http://purl.obolibrary.org/obo/MONDO_0016469 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Brittle cornea syndrome | http://www.orpha.net/ORDO/Orphanet_90354 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, arthrochalasic type | http://www.orpha.net/ORDO/Orphanet_1899 | http://purl.obolibrary.org/obo/MONDO_0020066 |
Ehlers-Danlos syndrome, kyphoscoliotic type | http://www.orpha.net/ORDO/Orphanet_1900 | http://purl.obolibrary.org/obo/MONDO_0020066 |
facial cleft | http://purl.obolibrary.org/obo/MONDO_0015411 | http://purl.obolibrary.org/obo/MONDO_0019755 |
oblique facial cleft | http://purl.obolibrary.org/obo/MONDO_0015415 | http://purl.obolibrary.org/obo/MONDO_0015411 |
coloboma of superior eyelid | http://purl.obolibrary.org/obo/MONDO_0015480 | http://purl.obolibrary.org/obo/MONDO_0015415 |
coloboma of inferior eyelid | http://purl.obolibrary.org/obo/MONDO_0015481 | http://purl.obolibrary.org/obo/MONDO_0015415 |
Tessier number 5 facial cleft | http://purl.obolibrary.org/obo/MONDO_0015416 | http://purl.obolibrary.org/obo/MONDO_0015415 |
Tessier number 6 facial cleft | http://purl.obolibrary.org/obo/MONDO_0015417 | http://purl.obolibrary.org/obo/MONDO_0015415 |
lateral facial cleft | http://purl.obolibrary.org/obo/MONDO_0015418 | http://purl.obolibrary.org/obo/MONDO_0015411 |
commissural facial cleft | http://purl.obolibrary.org/obo/MONDO_0013300 | http://purl.obolibrary.org/obo/MONDO_0015418 |
median facial cleft | http://purl.obolibrary.org/obo/MONDO_0015412 | http://purl.obolibrary.org/obo/MONDO_0015411 |
familial median cleft of the upper and lower lips | http://purl.obolibrary.org/obo/MONDO_0014388 | http://purl.obolibrary.org/obo/MONDO_0015412 |
cysts and fistulae of the face and oral cavity | http://purl.obolibrary.org/obo/MONDO_0015476 | http://purl.obolibrary.org/obo/MONDO_0019755 |
otomandibular dysplasia | http://purl.obolibrary.org/obo/MONDO_0015482 | http://purl.obolibrary.org/obo/MONDO_0019755 |
mandibulofacial dysostosis | http://purl.obolibrary.org/obo/MONDO_0015483 | http://purl.obolibrary.org/obo/MONDO_0015482 |
paralytic facial malformation | http://purl.obolibrary.org/obo/MONDO_0015499 | http://purl.obolibrary.org/obo/MONDO_0019755 |
hypoglossia/aglossia | http://purl.obolibrary.org/obo/MONDO_0015497 | http://purl.obolibrary.org/obo/MONDO_0019755 |
isolated congenital hypoglossia/aglossia | http://purl.obolibrary.org/obo/MONDO_0013003 | http://purl.obolibrary.org/obo/MONDO_0015497 |
oromandibular-limb anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0015498 | http://purl.obolibrary.org/obo/MONDO_0015497 |
orofaciodigital syndrome | http://purl.obolibrary.org/obo/MONDO_0015375 | http://purl.obolibrary.org/obo/MONDO_0015498 |
orofaciodigital syndrome X | http://purl.obolibrary.org/obo/MONDO_0008137 | http://purl.obolibrary.org/obo/MONDO_0015375 |
orofaciodigital syndrome V | http://purl.obolibrary.org/obo/MONDO_0008267 | http://purl.obolibrary.org/obo/MONDO_0015375 |
orofaciodigital syndrome XI | http://purl.obolibrary.org/obo/MONDO_0013035 | http://purl.obolibrary.org/obo/MONDO_0015375 |
orofaciodigital syndrome type 12 | http://purl.obolibrary.org/obo/MONDO_0015421 | http://purl.obolibrary.org/obo/MONDO_0015375 |
orofaciodigital syndrome type 13 | http://purl.obolibrary.org/obo/MONDO_0015422 | http://purl.obolibrary.org/obo/MONDO_0015375 |
orofaciodigital syndrome IX | http://purl.obolibrary.org/obo/MONDO_0009795 | http://purl.obolibrary.org/obo/MONDO_0015375 |
macroglossia | http://purl.obolibrary.org/obo/MONDO_0015496 | http://purl.obolibrary.org/obo/MONDO_0019755 |
congenital macroglossia | http://purl.obolibrary.org/obo/MONDO_0007927 | http://purl.obolibrary.org/obo/MONDO_0015496 |
developmental anomaly of metabolic origin | http://purl.obolibrary.org/obo/MONDO_0015327 | http://purl.obolibrary.org/obo/MONDO_0019755 |
pseudohypoparathyroidism | http://purl.obolibrary.org/obo/MONDO_0019992 | http://purl.obolibrary.org/obo/MONDO_0015327 |
pseudohypoparathyroidism type 1B | http://purl.obolibrary.org/obo/MONDO_0011301 | http://purl.obolibrary.org/obo/MONDO_0019992 |
pseudohypoparathyroidism type 2 | http://purl.obolibrary.org/obo/MONDO_0008749 | http://purl.obolibrary.org/obo/MONDO_0019992 |
familial partial lipodystrophy, Dunnigan type | http://purl.obolibrary.org/obo/MONDO_0007906 | http://purl.obolibrary.org/obo/MONDO_0015327 |
oligosaccharidosis | http://purl.obolibrary.org/obo/MONDO_0019251 | http://purl.obolibrary.org/obo/MONDO_0015327 |
alpha-N-acetylgalactosaminidase deficiency | http://purl.obolibrary.org/obo/MONDO_0017779 | http://purl.obolibrary.org/obo/MONDO_0019251 |
alpha-N-acetylgalactosaminidase deficiency type 3 | http://purl.obolibrary.org/obo/MONDO_0019264 | http://purl.obolibrary.org/obo/MONDO_0017779 |
alpha-N-acetylgalactosaminidase deficiency type 2 | http://purl.obolibrary.org/obo/MONDO_0012222 | http://purl.obolibrary.org/obo/MONDO_0017779 |
alpha-N-acetylgalactosaminidase deficiency type 1 | http://purl.obolibrary.org/obo/MONDO_0012221 | http://purl.obolibrary.org/obo/MONDO_0017779 |
sialidosis | http://purl.obolibrary.org/obo/MONDO_0017734 | http://purl.obolibrary.org/obo/MONDO_0019251 |
sialidosis type I | http://www.orpha.net/ORDO/Orphanet_812 | http://purl.obolibrary.org/obo/MONDO_0017734 |
sialidosis type 1 | http://purl.obolibrary.org/obo/MONDO_0019346 | http://purl.obolibrary.org/obo/MONDO_0017734 |
sialidosis type II | http://www.orpha.net/ORDO/Orphanet_87876 | http://purl.obolibrary.org/obo/MONDO_0017734 |
juvenile sialidosis type II | http://www.orpha.net/ORDO/Orphanet_93399 | http://www.orpha.net/ORDO/Orphanet_87876 |
congenital sialidosis type II | http://www.orpha.net/ORDO/Orphanet_93400 | http://www.orpha.net/ORDO/Orphanet_87876 |
galactosialidosis | http://purl.obolibrary.org/obo/MONDO_0009737 | http://purl.obolibrary.org/obo/MONDO_0019251 |
fucosidosis | http://purl.obolibrary.org/obo/MONDO_0009254 | http://purl.obolibrary.org/obo/MONDO_0019251 |
beta-mannosidosis | http://purl.obolibrary.org/obo/MONDO_0009562 | http://purl.obolibrary.org/obo/MONDO_0019251 |
alpha-mannosidosis | http://purl.obolibrary.org/obo/MONDO_0009561 | http://purl.obolibrary.org/obo/MONDO_0019251 |
alpha-mannosidosis, adult form | http://purl.obolibrary.org/obo/MONDO_0017733 | http://purl.obolibrary.org/obo/MONDO_0009561 |
alpha-mannosidosis, infantile form | http://purl.obolibrary.org/obo/MONDO_0017732 | http://purl.obolibrary.org/obo/MONDO_0009561 |
aspartylglucosaminuria | http://purl.obolibrary.org/obo/MONDO_0008830 | http://purl.obolibrary.org/obo/MONDO_0019251 |
sterol biosynthesis disorder | http://purl.obolibrary.org/obo/MONDO_0019240 | http://purl.obolibrary.org/obo/MONDO_0015327 |
cholesterol biosynthetic process disease | http://purl.obolibrary.org/obo/MONDO_0045017 | http://purl.obolibrary.org/obo/MONDO_0019240 |
lathosterolosis | http://purl.obolibrary.org/obo/MONDO_0011816 | http://purl.obolibrary.org/obo/MONDO_0045017 |
mevalonate kinase deficiency | http://purl.obolibrary.org/obo/MONDO_0017708 | http://purl.obolibrary.org/obo/MONDO_0019240 |
hyperimmunoglobulinemia D with periodic fever | http://purl.obolibrary.org/obo/MONDO_0009849 | http://purl.obolibrary.org/obo/MONDO_0017708 |
mevalonic aciduria | http://purl.obolibrary.org/obo/MONDO_0012481 | http://purl.obolibrary.org/obo/MONDO_0017708 |
MEND syndrome | http://purl.obolibrary.org/obo/MONDO_0010498 | http://purl.obolibrary.org/obo/MONDO_0019240 |
mucolipidosis | http://purl.obolibrary.org/obo/MONDO_0019248 | http://purl.obolibrary.org/obo/MONDO_0015327 |
mucolipidosis type II | http://purl.obolibrary.org/obo/MONDO_0009650 | http://purl.obolibrary.org/obo/MONDO_0019248 |
mucolipidosis type III gamma | http://purl.obolibrary.org/obo/MONDO_0009652 | http://purl.obolibrary.org/obo/MONDO_0019248 |
mucolipidosis type IV | http://purl.obolibrary.org/obo/MONDO_0009653 | http://purl.obolibrary.org/obo/MONDO_0019248 |
mucolipidosis type III | http://purl.obolibrary.org/obo/MONDO_0018931 | http://purl.obolibrary.org/obo/MONDO_0019248 |
mucopolysaccharidosis | http://purl.obolibrary.org/obo/MONDO_0019249 | http://purl.obolibrary.org/obo/MONDO_0015327 |
mucopolysaccharidosis type 1 | http://purl.obolibrary.org/obo/MONDO_0001586 | http://purl.obolibrary.org/obo/MONDO_0019249 |
Hurler syndrome | http://purl.obolibrary.org/obo/MONDO_0011758 | http://purl.obolibrary.org/obo/MONDO_0001586 |
Hurler-Scheie syndrome | http://purl.obolibrary.org/obo/MONDO_0011759 | http://purl.obolibrary.org/obo/MONDO_0001586 |
Scheie syndrome | http://purl.obolibrary.org/obo/MONDO_0011760 | http://purl.obolibrary.org/obo/MONDO_0001586 |
mucopolysaccharidosis type 9 | http://purl.obolibrary.org/obo/MONDO_0011093 | http://purl.obolibrary.org/obo/MONDO_0019249 |
mucopolysaccharidosis type 2 | http://purl.obolibrary.org/obo/MONDO_0010674 | http://purl.obolibrary.org/obo/MONDO_0019249 |
mucopolysaccharidosis type 2, attenuated form | http://purl.obolibrary.org/obo/MONDO_0016316 | http://purl.obolibrary.org/obo/MONDO_0010674 |
mucopolysaccharidosis type 2, severe form | http://purl.obolibrary.org/obo/MONDO_0016315 | http://purl.obolibrary.org/obo/MONDO_0010674 |
mucopolysaccharidosis type 6 | http://purl.obolibrary.org/obo/MONDO_0009661 | http://purl.obolibrary.org/obo/MONDO_0019249 |
mucopolysaccharidosis type 6, slowly progressing | http://purl.obolibrary.org/obo/MONDO_0017172 | http://purl.obolibrary.org/obo/MONDO_0009661 |
mucopolysaccharidosis type 6, rapidly progressing | http://purl.obolibrary.org/obo/MONDO_0017171 | http://purl.obolibrary.org/obo/MONDO_0009661 |
mucopolysaccharidosis type 7 | http://purl.obolibrary.org/obo/MONDO_0009662 | http://purl.obolibrary.org/obo/MONDO_0019249 |
mucopolysaccharidosis type 3 | http://purl.obolibrary.org/obo/MONDO_0018937 | http://purl.obolibrary.org/obo/MONDO_0019249 |
Sanfilippo syndrome type A | http://purl.obolibrary.org/obo/MONDO_0009655 | http://purl.obolibrary.org/obo/MONDO_0018937 |
Sanfilippo syndrome type B | http://purl.obolibrary.org/obo/MONDO_0009656 | http://purl.obolibrary.org/obo/MONDO_0018937 |
Sanfilippo syndrome type C | http://purl.obolibrary.org/obo/MONDO_0009657 | http://purl.obolibrary.org/obo/MONDO_0018937 |
Sanfilippo syndrome type D | http://purl.obolibrary.org/obo/MONDO_0009658 | http://purl.obolibrary.org/obo/MONDO_0018937 |
mucopolysaccharidosis type 4 | http://purl.obolibrary.org/obo/MONDO_0018938 | http://purl.obolibrary.org/obo/MONDO_0019249 |
mucopolysaccharidosis type 4B | http://purl.obolibrary.org/obo/MONDO_0009660 | http://purl.obolibrary.org/obo/MONDO_0018938 |
mucopolysaccharidosis type 4A | http://purl.obolibrary.org/obo/MONDO_0009659 | http://purl.obolibrary.org/obo/MONDO_0018938 |
encephalopathy due to sulfite oxidase deficiency | http://purl.obolibrary.org/obo/MONDO_0019358 | http://purl.obolibrary.org/obo/MONDO_0015327 |
sulfite oxidase deficiency due to molybdenum cofactor deficiency | http://purl.obolibrary.org/obo/MONDO_0020480 | http://purl.obolibrary.org/obo/MONDO_0019358 |
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | http://purl.obolibrary.org/obo/MONDO_0009643 | http://purl.obolibrary.org/obo/MONDO_0020480 |
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | http://purl.obolibrary.org/obo/MONDO_0009644 | http://purl.obolibrary.org/obo/MONDO_0020480 |
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | http://purl.obolibrary.org/obo/MONDO_0014212 | http://purl.obolibrary.org/obo/MONDO_0020480 |
isolated sulfite oxidase deficiency | http://purl.obolibrary.org/obo/MONDO_0010089 | http://purl.obolibrary.org/obo/MONDO_0019358 |
xeroderma pigmentosum | http://purl.obolibrary.org/obo/MONDO_0019600 | http://purl.obolibrary.org/obo/MONDO_0015327 |
xeroderma pigmentosum variant type | http://purl.obolibrary.org/obo/MONDO_0010214 | http://purl.obolibrary.org/obo/MONDO_0019600 |
xeroderma pigmentosum group E | http://purl.obolibrary.org/obo/MONDO_0010213 | http://purl.obolibrary.org/obo/MONDO_0019600 |
xeroderma pigmentosum group A | http://purl.obolibrary.org/obo/MONDO_0010210 | http://purl.obolibrary.org/obo/MONDO_0019600 |
xeroderma pigmentosum group C | http://purl.obolibrary.org/obo/MONDO_0010211 | http://purl.obolibrary.org/obo/MONDO_0019600 |
Zellweger spectrum disorders | http://purl.obolibrary.org/obo/MONDO_0019609 | http://purl.obolibrary.org/obo/MONDO_0015327 |
peroxisome biogenesis disorder due to PEX12 defect | http://purl.obolibrary.org/obo/MONDO_0100266 | http://purl.obolibrary.org/obo/MONDO_0019609 |
peroxisome biogenesis disorder type 3B | http://purl.obolibrary.org/obo/MONDO_0009959 | http://purl.obolibrary.org/obo/MONDO_0100266 |
peroxisome biogenesis disorder due to PEX10 defect | http://purl.obolibrary.org/obo/MONDO_0100264 | http://purl.obolibrary.org/obo/MONDO_0019609 |
peroxisome biogenesis disorder 6B | http://purl.obolibrary.org/obo/MONDO_0013937 | http://purl.obolibrary.org/obo/MONDO_0100264 |
peroxisome biogenesis disorder due to PEX6 defect | http://purl.obolibrary.org/obo/MONDO_0100263 | http://purl.obolibrary.org/obo/MONDO_0019609 |
peroxisome biogenesis disorder 4B | http://purl.obolibrary.org/obo/MONDO_0013931 | http://purl.obolibrary.org/obo/MONDO_0100263 |
peroxisome biogenesis disorder due to PEX1 defect | http://purl.obolibrary.org/obo/MONDO_0100259 | http://purl.obolibrary.org/obo/MONDO_0019609 |
peroxisome biogenesis disorder 1B | http://purl.obolibrary.org/obo/MONDO_0011101 | http://purl.obolibrary.org/obo/MONDO_0100259 |
mucosulfatidosis | http://purl.obolibrary.org/obo/MONDO_0010088 | http://purl.obolibrary.org/obo/MONDO_0015327 |
hypophosphatasia | http://purl.obolibrary.org/obo/MONDO_0018570 | http://purl.obolibrary.org/obo/MONDO_0015327 |
mild hypophosphatasia | http://purl.obolibrary.org/obo/MONDO_0600011 | http://purl.obolibrary.org/obo/MONDO_0018570 |
severe hypophosphatasia | http://purl.obolibrary.org/obo/MONDO_0600009 | http://purl.obolibrary.org/obo/MONDO_0018570 |
odontohypophosphatasia | http://purl.obolibrary.org/obo/MONDO_0016607 | http://purl.obolibrary.org/obo/MONDO_0018570 |
perinatal lethal hypophosphatasia | http://purl.obolibrary.org/obo/MONDO_0016605 | http://purl.obolibrary.org/obo/MONDO_0018570 |
MGAT2-CDG | http://purl.obolibrary.org/obo/MONDO_0008908 | http://purl.obolibrary.org/obo/MONDO_0015327 |
CADDS | http://purl.obolibrary.org/obo/MONDO_0018247 | http://purl.obolibrary.org/obo/MONDO_0015327 |
congenital disorder of glycosylation-related bone disorder | http://purl.obolibrary.org/obo/MONDO_0018292 | http://purl.obolibrary.org/obo/MONDO_0015327 |
TMEM165-CDG | http://purl.obolibrary.org/obo/MONDO_0013870 | http://purl.obolibrary.org/obo/MONDO_0018292 |
Reunion island Larsen syndrome | http://purl.obolibrary.org/obo/MONDO_0017413 | http://purl.obolibrary.org/obo/MONDO_0018292 |
Larsen-like syndrome, B3GAT3 type | http://purl.obolibrary.org/obo/MONDO_0009511 | http://purl.obolibrary.org/obo/MONDO_0018292 |
inborn mitochondrial metabolism disorder | http://purl.obolibrary.org/obo/MONDO_0004069 | http://purl.obolibrary.org/obo/MONDO_0015327 |
mitochondrial pyruvate carrier deficiency | http://purl.obolibrary.org/obo/MONDO_0013877 | http://purl.obolibrary.org/obo/MONDO_0004069 |
fumaric aciduria | http://purl.obolibrary.org/obo/MONDO_0011730 | http://purl.obolibrary.org/obo/MONDO_0004069 |
histiocytoid cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0010771 | http://purl.obolibrary.org/obo/MONDO_0004069 |
pyruvate dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0019169 | http://purl.obolibrary.org/obo/MONDO_0004069 |
lipoic acid synthetase deficiency | http://purl.obolibrary.org/obo/MONDO_0013762 | http://purl.obolibrary.org/obo/MONDO_0019169 |
pyruvate dehydrogenase E1-beta deficiency | http://purl.obolibrary.org/obo/MONDO_0013580 | http://purl.obolibrary.org/obo/MONDO_0019169 |
pyruvate dehydrogenase E1-alpha deficiency | http://purl.obolibrary.org/obo/MONDO_0010717 | http://purl.obolibrary.org/obo/MONDO_0019169 |
pyruvate dehydrogenase E3 deficiency | http://purl.obolibrary.org/obo/MONDO_0009529 | http://purl.obolibrary.org/obo/MONDO_0019169 |
pyruvate dehydrogenase E2 deficiency | http://purl.obolibrary.org/obo/MONDO_0009502 | http://purl.obolibrary.org/obo/MONDO_0019169 |
pyruvate dehydrogenase E3-binding protein deficiency | http://purl.obolibrary.org/obo/MONDO_0009503 | http://purl.obolibrary.org/obo/MONDO_0019169 |
pyruvate dehydrogenase phosphatase deficiency | http://purl.obolibrary.org/obo/MONDO_0012120 | http://purl.obolibrary.org/obo/MONDO_0019169 |
inborn mitochondrial myopathy | http://purl.obolibrary.org/obo/MONDO_0009637 | http://purl.obolibrary.org/obo/MONDO_0004069 |
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | http://purl.obolibrary.org/obo/MONDO_0011835 | http://purl.obolibrary.org/obo/MONDO_0009637 |
spinocerebellar ataxia with epilepsy | http://purl.obolibrary.org/obo/MONDO_0016809 | http://purl.obolibrary.org/obo/MONDO_0011835 |
progressive external ophthalmoplegia | http://www.ebi.ac.uk/efo/EFO_0002509 | http://purl.obolibrary.org/obo/MONDO_0009637 |
autosomal recessive progressive external ophthalmoplegia | http://purl.obolibrary.org/obo/MONDO_0016810 | http://www.ebi.ac.uk/efo/EFO_0002509 |
progressive external ophthalmoplegia with mitochondrial DNA deletions | http://purl.obolibrary.org/obo/MONDO_0000090 | http://www.ebi.ac.uk/efo/EFO_0002509 |
autosomal dominant progressive external ophthalmoplegia | http://purl.obolibrary.org/obo/MONDO_0008003 | http://purl.obolibrary.org/obo/MONDO_0000090 |
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | http://purl.obolibrary.org/obo/MONDO_0020845 | http://purl.obolibrary.org/obo/MONDO_0000090 |
adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | http://purl.obolibrary.org/obo/MONDO_0014899 | http://purl.obolibrary.org/obo/MONDO_0000090 |
mitochondrial DNA deletion syndrome with progressive myopathy | http://purl.obolibrary.org/obo/MONDO_0014062 | http://purl.obolibrary.org/obo/MONDO_0000090 |
adenosine monophosphate deaminase deficiency | http://purl.obolibrary.org/obo/MONDO_0013028 | http://purl.obolibrary.org/obo/MONDO_0009637 |
mitochondrial neurogastrointestinal encephalomyopathy | http://purl.obolibrary.org/obo/MONDO_0017575 | http://purl.obolibrary.org/obo/MONDO_0009637 |
fatal infantile encephalocardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0015487 | http://purl.obolibrary.org/obo/MONDO_0009637 |
lethal infantile mitochondrial myopathy | http://purl.obolibrary.org/obo/MONDO_0010792 | http://purl.obolibrary.org/obo/MONDO_0009637 |
mitochondrial myopathy with reversible cytochrome C oxidase deficiency | http://purl.obolibrary.org/obo/MONDO_0010780 | http://purl.obolibrary.org/obo/MONDO_0009637 |
myopathy and diabetes mellitus | http://purl.obolibrary.org/obo/MONDO_0010773 | http://purl.obolibrary.org/obo/MONDO_0009637 |
mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | http://purl.obolibrary.org/obo/MONDO_0044714 | http://purl.obolibrary.org/obo/MONDO_0009637 |
myopathy, lactic acidosis, and sideroblastic anemia | http://purl.obolibrary.org/obo/MONDO_0000863 | http://purl.obolibrary.org/obo/MONDO_0009637 |
multiple acyl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0009282 | http://purl.obolibrary.org/obo/MONDO_0009637 |
multiple acyl-CoA dehydrogenase deficiency, severe neonatal type | http://purl.obolibrary.org/obo/MONDO_0018332 | http://purl.obolibrary.org/obo/MONDO_0009282 |
multiple acyl-CoA dehydrogenase deficiency, mild type | http://purl.obolibrary.org/obo/MONDO_0018333 | http://purl.obolibrary.org/obo/MONDO_0009282 |
Barth syndrome | http://purl.obolibrary.org/obo/MONDO_0010543 | http://purl.obolibrary.org/obo/MONDO_0009637 |
maternally-inherited progressive external ophthalmoplegia | http://purl.obolibrary.org/obo/MONDO_0019016 | http://purl.obolibrary.org/obo/MONDO_0009637 |
autosomal dominant mitochondrial myopathy with exercise intolerance | http://purl.obolibrary.org/obo/MONDO_0014532 | http://purl.obolibrary.org/obo/MONDO_0009637 |
mitochondrial trifunctional protein deficiency | http://purl.obolibrary.org/obo/MONDO_0012172 | http://purl.obolibrary.org/obo/MONDO_0009637 |
mitochondrial encephalomyopathy | http://purl.obolibrary.org/obo/MONDO_0004675 | http://purl.obolibrary.org/obo/MONDO_0009637 |
MERRF syndrome | http://purl.obolibrary.org/obo/MONDO_0010790 | http://purl.obolibrary.org/obo/MONDO_0004675 |
mitochondrial complex II deficiency, nuclear type | http://purl.obolibrary.org/obo/MONDO_0031230 | http://purl.obolibrary.org/obo/MONDO_0009637 |
mitochondrial complex II deficiency, nuclear type 1 | http://purl.obolibrary.org/obo/MONDO_0100294 | http://purl.obolibrary.org/obo/MONDO_0031230 |
periodic paralysis with later-onset distal motor neuropathy | http://purl.obolibrary.org/obo/MONDO_0018343 | http://purl.obolibrary.org/obo/MONDO_0009637 |
mitochondrial membrane transport disorder | http://purl.obolibrary.org/obo/MONDO_0016800 | http://purl.obolibrary.org/obo/MONDO_0004069 |
mitochondrial protein import disorder | http://purl.obolibrary.org/obo/MONDO_0016802 | http://purl.obolibrary.org/obo/MONDO_0016800 |
mitochondrial substrate carrier disorder | http://purl.obolibrary.org/obo/MONDO_0016801 | http://purl.obolibrary.org/obo/MONDO_0016800 |
developmental and epileptic encephalopathy, 39 | http://purl.obolibrary.org/obo/MONDO_0013056 | http://purl.obolibrary.org/obo/MONDO_0016801 |
cardiomyopathy-hypotonia-lactic acidosis syndrome | http://purl.obolibrary.org/obo/MONDO_0012557 | http://purl.obolibrary.org/obo/MONDO_0016801 |
sideroblastic anemia 3 | http://purl.obolibrary.org/obo/MONDO_0014804 | http://purl.obolibrary.org/obo/MONDO_0016801 |
early myoclonic encephalopathy | http://purl.obolibrary.org/obo/MONDO_0016022 | http://purl.obolibrary.org/obo/MONDO_0016801 |
familial infantile myoclonic epilepsy | http://purl.obolibrary.org/obo/MONDO_0011506 | http://purl.obolibrary.org/obo/MONDO_0016022 |
epilepsy, familial adult myoclonic | http://purl.obolibrary.org/obo/MONDO_0000160 | http://purl.obolibrary.org/obo/MONDO_0016022 |
benign adult familial myoclonic epilepsy | http://purl.obolibrary.org/obo/MONDO_0019448 | http://purl.obolibrary.org/obo/MONDO_0000160 |
developmental and epileptic encephalopathy, 41 | http://purl.obolibrary.org/obo/MONDO_0014916 | http://purl.obolibrary.org/obo/MONDO_0016022 |
Sengers syndrome | http://purl.obolibrary.org/obo/MONDO_0008922 | http://purl.obolibrary.org/obo/MONDO_0016801 |
unspecified inborn mitochondrial disorder | http://purl.obolibrary.org/obo/MONDO_0016803 | http://purl.obolibrary.org/obo/MONDO_0004069 |
ethylmalonic encephalopathy | http://purl.obolibrary.org/obo/MONDO_0011229 | http://purl.obolibrary.org/obo/MONDO_0016803 |
X-linked sideroblastic anemia with ataxia | http://purl.obolibrary.org/obo/MONDO_0010524 | http://purl.obolibrary.org/obo/MONDO_0016803 |
mitochondrial complex deficiency | http://purl.obolibrary.org/obo/MONDO_0000066 | http://purl.obolibrary.org/obo/MONDO_0004069 |
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | http://purl.obolibrary.org/obo/MONDO_0013546 | http://purl.obolibrary.org/obo/MONDO_0000066 |
mitochondrial complex III deficiency | http://purl.obolibrary.org/obo/MONDO_0015448 | http://purl.obolibrary.org/obo/MONDO_0000066 |
mitochondrial complex III deficiency, nuclear type | http://purl.obolibrary.org/obo/MONDO_0020811 | http://purl.obolibrary.org/obo/MONDO_0015448 |
mitochondrial complex 3 deficiency, nuclear type 10 | http://purl.obolibrary.org/obo/MONDO_0032909 | http://purl.obolibrary.org/obo/MONDO_0020811 |
mitochondrial complex III deficiency nuclear type 1 | http://purl.obolibrary.org/obo/MONDO_0007415 | http://purl.obolibrary.org/obo/MONDO_0020811 |
renal tubulopathy-encephalopathy-liver failure syndrome | http://purl.obolibrary.org/obo/MONDO_0016811 | http://purl.obolibrary.org/obo/MONDO_0007415 |
cytochrome-c oxidase deficiency disease | http://purl.obolibrary.org/obo/MONDO_0009068 | http://purl.obolibrary.org/obo/MONDO_0000066 |
mitochondrial complex I deficiency | http://purl.obolibrary.org/obo/MONDO_0100133 | http://purl.obolibrary.org/obo/MONDO_0000066 |
mitochondrial complex I deficiency, nuclear type | http://purl.obolibrary.org/obo/MONDO_0100223 | http://purl.obolibrary.org/obo/MONDO_0100133 |
mitochondrial complex 1 deficiency, nuclear type 34 | http://purl.obolibrary.org/obo/MONDO_0032910 | http://purl.obolibrary.org/obo/MONDO_0100223 |
mitochondrial complex 1 deficiency, nuclear type 5 | http://purl.obolibrary.org/obo/MONDO_0032610 | http://purl.obolibrary.org/obo/MONDO_0100223 |
mitochondrial complex V deficiency, nuclear type 6 | http://www.ebi.ac.uk/efo/EFO_0010656 | http://purl.obolibrary.org/obo/MONDO_0000066 |
mitochondrial complex IV deficiency, nuclear-type | http://purl.obolibrary.org/obo/MONDO_0033885 | http://purl.obolibrary.org/obo/MONDO_0000066 |
mitochondrial complex 4 deficiency, nuclear type 12 | http://purl.obolibrary.org/obo/MONDO_0033646 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 14 | http://purl.obolibrary.org/obo/MONDO_0033649 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 15 | http://purl.obolibrary.org/obo/MONDO_0033650 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 16 | http://purl.obolibrary.org/obo/MONDO_0033651 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 17 | http://purl.obolibrary.org/obo/MONDO_0033652 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 18 | http://purl.obolibrary.org/obo/MONDO_0033653 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 19 | http://purl.obolibrary.org/obo/MONDO_0033654 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 20 | http://purl.obolibrary.org/obo/MONDO_0033655 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 21 | http://purl.obolibrary.org/obo/MONDO_0033656 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 3 | http://purl.obolibrary.org/obo/MONDO_0033635 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 4 | http://purl.obolibrary.org/obo/MONDO_0033636 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 7 | http://purl.obolibrary.org/obo/MONDO_0033637 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 8 | http://purl.obolibrary.org/obo/MONDO_0033638 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 10 | http://purl.obolibrary.org/obo/MONDO_0033639 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial complex 4 deficiency, nuclear type 11 | http://purl.obolibrary.org/obo/MONDO_0033645 | http://purl.obolibrary.org/obo/MONDO_0033885 |
mitochondrial oxidative phosphorylation disorder | http://purl.obolibrary.org/obo/MONDO_0016387 | http://purl.obolibrary.org/obo/MONDO_0004069 |
optic atrophy 3 | http://purl.obolibrary.org/obo/MONDO_0008133 | http://purl.obolibrary.org/obo/MONDO_0016387 |
autosomal dominant optic atrophy, classic form | http://purl.obolibrary.org/obo/MONDO_0008134 | http://purl.obolibrary.org/obo/MONDO_0016387 |
hereditary spastic paraplegia 7 | http://purl.obolibrary.org/obo/MONDO_0011803 | http://purl.obolibrary.org/obo/MONDO_0016387 |
autosomal recessive optic atrophy, OPA7 type | http://purl.obolibrary.org/obo/MONDO_0013069 | http://purl.obolibrary.org/obo/MONDO_0016387 |
FASTKD2-related infantile mitochondrial encephalomyopathy | http://purl.obolibrary.org/obo/MONDO_0015632 | http://purl.obolibrary.org/obo/MONDO_0016387 |
acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | http://purl.obolibrary.org/obo/MONDO_0013111 | http://purl.obolibrary.org/obo/MONDO_0016387 |
spastic ataxia 4 | http://purl.obolibrary.org/obo/MONDO_0013354 | http://purl.obolibrary.org/obo/MONDO_0016387 |
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | http://purl.obolibrary.org/obo/MONDO_0013458 | http://purl.obolibrary.org/obo/MONDO_0016387 |
encephalopathy due to mitochondrial and peroxisomal fission defect | http://purl.obolibrary.org/obo/MONDO_0054865 | http://purl.obolibrary.org/obo/MONDO_0016387 |
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | http://purl.obolibrary.org/obo/MONDO_0013726 | http://purl.obolibrary.org/obo/MONDO_0054865 |
hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation | http://purl.obolibrary.org/obo/MONDO_0017933 | http://purl.obolibrary.org/obo/MONDO_0016387 |
deafness, aminoglycoside-induced | http://purl.obolibrary.org/obo/MONDO_0010799 | http://purl.obolibrary.org/obo/MONDO_0016387 |
Leber hereditary optic neuropathy | http://purl.obolibrary.org/obo/MONDO_0010788 | http://purl.obolibrary.org/obo/MONDO_0016387 |
NARP syndrome | http://purl.obolibrary.org/obo/MONDO_0010794 | http://purl.obolibrary.org/obo/MONDO_0016387 |
mitochondrial non-syndromic sensorineural hearing loss | http://purl.obolibrary.org/obo/MONDO_0010779 | http://purl.obolibrary.org/obo/MONDO_0016387 |
chronic diarrhea with villous atrophy | http://purl.obolibrary.org/obo/MONDO_0010786 | http://purl.obolibrary.org/obo/MONDO_0016387 |
Leigh syndrome | http://purl.obolibrary.org/obo/MONDO_0009723 | http://purl.obolibrary.org/obo/MONDO_0016387 |
Leigh syndrome with cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0019083 | http://purl.obolibrary.org/obo/MONDO_0009723 |
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | http://purl.obolibrary.org/obo/MONDO_0009069 | http://purl.obolibrary.org/obo/MONDO_0009723 |
Leigh syndrome with nephrotic syndrome | http://purl.obolibrary.org/obo/MONDO_0016816 | http://purl.obolibrary.org/obo/MONDO_0009723 |
Leigh syndrome with leukodystrophy | http://purl.obolibrary.org/obo/MONDO_0016815 | http://purl.obolibrary.org/obo/MONDO_0009723 |
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | http://purl.obolibrary.org/obo/MONDO_0014563 | http://purl.obolibrary.org/obo/MONDO_0016815 |
maternally-inherited Leigh syndrome | http://purl.obolibrary.org/obo/MONDO_0016814 | http://purl.obolibrary.org/obo/MONDO_0009723 |
leigh syndrome due to mitochondrial complex iv deficiency | http://www.ebi.ac.uk/efo/EFO_0009135 | http://purl.obolibrary.org/obo/MONDO_0009723 |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | http://www.orpha.net/ORDO/Orphanet_70472 | http://purl.obolibrary.org/obo/MONDO_0009723 |
Leber plus disease | http://purl.obolibrary.org/obo/MONDO_0020478 | http://purl.obolibrary.org/obo/MONDO_0016387 |
c12orf65-related combined oxidative phosphorylation defect | http://purl.obolibrary.org/obo/MONDO_0044655 | http://purl.obolibrary.org/obo/MONDO_0016387 |
combined oxidative phosphorylation defect type 7 | http://purl.obolibrary.org/obo/MONDO_0013306 | http://purl.obolibrary.org/obo/MONDO_0044655 |
hereditary spastic paraplegia 55 | http://purl.obolibrary.org/obo/MONDO_0014020 | http://purl.obolibrary.org/obo/MONDO_0044655 |
spinocerebellar ataxia type 28 | http://purl.obolibrary.org/obo/MONDO_0012450 | http://purl.obolibrary.org/obo/MONDO_0016387 |
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | http://purl.obolibrary.org/obo/MONDO_0012622 | http://purl.obolibrary.org/obo/MONDO_0016387 |
combined oxidative phosphorylation deficiency | http://purl.obolibrary.org/obo/MONDO_0000732 | http://purl.obolibrary.org/obo/MONDO_0016387 |
combined oxidative phosphorylation defect type 9 | http://purl.obolibrary.org/obo/MONDO_0013811 | http://purl.obolibrary.org/obo/MONDO_0000732 |
mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | http://purl.obolibrary.org/obo/MONDO_0013865 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation defect type 14 | http://purl.obolibrary.org/obo/MONDO_0013986 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation defect type 15 | http://purl.obolibrary.org/obo/MONDO_0013987 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation defect type 11 | http://purl.obolibrary.org/obo/MONDO_0013969 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation defect type 13 | http://purl.obolibrary.org/obo/MONDO_0013977 | http://purl.obolibrary.org/obo/MONDO_0000732 |
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | http://purl.obolibrary.org/obo/MONDO_0013971 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation defect type 8 | http://purl.obolibrary.org/obo/MONDO_0013570 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 36 | http://purl.obolibrary.org/obo/MONDO_0054781 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 34 | http://purl.obolibrary.org/obo/MONDO_0054741 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 35 | http://purl.obolibrary.org/obo/MONDO_0054742 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 43 | http://purl.obolibrary.org/obo/MONDO_0030017 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 44 | http://purl.obolibrary.org/obo/MONDO_0030020 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 41 | http://purl.obolibrary.org/obo/MONDO_0030007 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 42 | http://purl.obolibrary.org/obo/MONDO_0030008 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 40 | http://purl.obolibrary.org/obo/MONDO_0030006 | http://purl.obolibrary.org/obo/MONDO_0000732 |
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | http://purl.obolibrary.org/obo/MONDO_0012512 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation defect type 2 | http://purl.obolibrary.org/obo/MONDO_0012510 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation defect type 4 | http://purl.obolibrary.org/obo/MONDO_0012534 | http://purl.obolibrary.org/obo/MONDO_0000732 |
hypotonia with lactic acidemia and hyperammonemia | http://purl.obolibrary.org/obo/MONDO_0012718 | http://purl.obolibrary.org/obo/MONDO_0000732 |
severe X-linked mitochondrial encephalomyopathy | http://purl.obolibrary.org/obo/MONDO_0010437 | http://purl.obolibrary.org/obo/MONDO_0000732 |
growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | http://purl.obolibrary.org/obo/MONDO_0014261 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation defect type 20 | http://purl.obolibrary.org/obo/MONDO_0014397 | http://purl.obolibrary.org/obo/MONDO_0000732 |
mitochondrial proton-transporting ATP synthase complex deficiency | http://purl.obolibrary.org/obo/MONDO_0014471 | http://purl.obolibrary.org/obo/MONDO_0000732 |
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | http://purl.obolibrary.org/obo/MONDO_0012191 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation defect type 17 | http://purl.obolibrary.org/obo/MONDO_0014190 | http://purl.obolibrary.org/obo/MONDO_0000732 |
infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | http://purl.obolibrary.org/obo/MONDO_0014162 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 48 | http://purl.obolibrary.org/obo/MONDO_0033566 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 45 | http://purl.obolibrary.org/obo/MONDO_0033533 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 46 | http://purl.obolibrary.org/obo/MONDO_0033534 | http://purl.obolibrary.org/obo/MONDO_0000732 |
combined oxidative phosphorylation deficiency 47 | http://purl.obolibrary.org/obo/MONDO_0033537 | http://purl.obolibrary.org/obo/MONDO_0000732 |
spastic ataxia 3 | http://purl.obolibrary.org/obo/MONDO_0012664 | http://purl.obolibrary.org/obo/MONDO_0016387 |
maternally-inherited mitochondrial dystonia | http://purl.obolibrary.org/obo/MONDO_0016806 | http://purl.obolibrary.org/obo/MONDO_0016387 |
isolated oxidative phosphorylation complex disorder | http://purl.obolibrary.org/obo/MONDO_0016805 | http://purl.obolibrary.org/obo/MONDO_0016387 |
Charcot-Marie-Tooth disease type 4K | http://purl.obolibrary.org/obo/MONDO_0014733 | http://purl.obolibrary.org/obo/MONDO_0016387 |
Zellweger-like syndrome without peroxisomal anomalies | http://purl.obolibrary.org/obo/MONDO_0018861 | http://purl.obolibrary.org/obo/MONDO_0016387 |
autosomal dominant optic atrophy and peripheral neuropathy | http://purl.obolibrary.org/obo/MONDO_0016646 | http://purl.obolibrary.org/obo/MONDO_0016387 |
maternally-inherited mitochondrial myopathy | http://purl.obolibrary.org/obo/MONDO_0016794 | http://purl.obolibrary.org/obo/MONDO_0016387 |
pure mitochondrial myopathy | http://purl.obolibrary.org/obo/MONDO_0016807 | http://purl.obolibrary.org/obo/MONDO_0016794 |
multiple mitochondrial DNA deletion syndrome | http://purl.obolibrary.org/obo/MONDO_0016797 | http://purl.obolibrary.org/obo/MONDO_0016387 |
autosomal dominant optic atrophy plus syndrome | http://purl.obolibrary.org/obo/MONDO_0014720 | http://purl.obolibrary.org/obo/MONDO_0016797 |
ataxia neuropathy spectrum | http://purl.obolibrary.org/obo/MONDO_0016798 | http://purl.obolibrary.org/obo/MONDO_0016797 |
recessive mitochondrial ataxia syndrome | http://purl.obolibrary.org/obo/MONDO_0019791 | http://purl.obolibrary.org/obo/MONDO_0016798 |
coenzyme Q10 deficiency | http://purl.obolibrary.org/obo/MONDO_0018151 | http://purl.obolibrary.org/obo/MONDO_0016387 |
deafness-encephaloneuropathy-obesity-valvulopathy syndrome | http://purl.obolibrary.org/obo/MONDO_0013837 | http://purl.obolibrary.org/obo/MONDO_0018151 |
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | http://purl.obolibrary.org/obo/MONDO_0013840 | http://purl.obolibrary.org/obo/MONDO_0018151 |
autosomal recessive ataxia due to ubiquinone deficiency | http://purl.obolibrary.org/obo/MONDO_0012784 | http://purl.obolibrary.org/obo/MONDO_0018151 |
coenzyme q10 deficiency, primary, 9 | http://purl.obolibrary.org/obo/MONDO_0033615 | http://purl.obolibrary.org/obo/MONDO_0018151 |
mitochondrial DNA depletion syndrome | http://purl.obolibrary.org/obo/MONDO_0018158 | http://purl.obolibrary.org/obo/MONDO_0016387 |
spastic ataxia 5 | http://purl.obolibrary.org/obo/MONDO_0013776 | http://purl.obolibrary.org/obo/MONDO_0018158 |
mitochondrial DNA depletion syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0011283 | http://purl.obolibrary.org/obo/MONDO_0018158 |
mitochondrial DNA depletion syndrome 18 | http://purl.obolibrary.org/obo/MONDO_0032932 | http://purl.obolibrary.org/obo/MONDO_0018158 |
mitochondrial DNA depletion syndrome, hepatocerebral form | http://purl.obolibrary.org/obo/MONDO_0016808 | http://purl.obolibrary.org/obo/MONDO_0018158 |
Navajo neurohepatopathy | http://purl.obolibrary.org/obo/MONDO_0009747 | http://purl.obolibrary.org/obo/MONDO_0016808 |
infantile onset spinocerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0010060 | http://purl.obolibrary.org/obo/MONDO_0016808 |
mitochondrial DNA depletion syndrome 3 | http://purl.obolibrary.org/obo/MONDO_0009636 | http://purl.obolibrary.org/obo/MONDO_0016808 |
mitochondrial DNA depletion syndrome 4a | http://purl.obolibrary.org/obo/MONDO_0008758 | http://purl.obolibrary.org/obo/MONDO_0016808 |
mitochondrial DNA depletion syndrome, hepatocerebrorenal form | http://purl.obolibrary.org/obo/MONDO_0018197 | http://purl.obolibrary.org/obo/MONDO_0016808 |
mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | http://purl.obolibrary.org/obo/MONDO_0014820 | http://purl.obolibrary.org/obo/MONDO_0018158 |
mitochondrial DNA depletion syndrome, myopathic form | http://purl.obolibrary.org/obo/MONDO_0012301 | http://purl.obolibrary.org/obo/MONDO_0018158 |
mitochondrial DNA depletion syndrome 11 | http://purl.obolibrary.org/obo/MONDO_0014039 | http://purl.obolibrary.org/obo/MONDO_0018158 |
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0014175 | http://purl.obolibrary.org/obo/MONDO_0018158 |
mitochondrial DNA depletion syndrome, encephalomyopathic form | http://purl.obolibrary.org/obo/MONDO_0016796 | http://purl.obolibrary.org/obo/MONDO_0018158 |
mitochondrial DNA depletion syndrome 8a | http://purl.obolibrary.org/obo/MONDO_0012792 | http://purl.obolibrary.org/obo/MONDO_0016796 |
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | http://purl.obolibrary.org/obo/MONDO_0012791 | http://purl.obolibrary.org/obo/MONDO_0016796 |
mitochondrial DNA depletion syndrome 9 | http://purl.obolibrary.org/obo/MONDO_0009504 | http://purl.obolibrary.org/obo/MONDO_0016796 |
mitochondrial DNA depletion syndrome 13 | http://purl.obolibrary.org/obo/MONDO_0014198 | http://purl.obolibrary.org/obo/MONDO_0016796 |
mitochondrial DNA depletion syndrome 19 | http://purl.obolibrary.org/obo/MONDO_0033545 | http://purl.obolibrary.org/obo/MONDO_0018158 |
mitochondrial DNA maintenance syndrome | http://purl.obolibrary.org/obo/MONDO_0018121 | http://purl.obolibrary.org/obo/MONDO_0016387 |
oxoglutaricaciduria | http://purl.obolibrary.org/obo/MONDO_0008759 | http://purl.obolibrary.org/obo/MONDO_0004069 |
inherited lipoic acid biosynthesis defect | http://purl.obolibrary.org/obo/MONDO_0018424 | http://purl.obolibrary.org/obo/MONDO_0004069 |
fatal multiple mitochondrial dysfunctions syndrome | http://purl.obolibrary.org/obo/MONDO_0017338 | http://purl.obolibrary.org/obo/MONDO_0018424 |
multiple mitochondrial dysfunctions syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0011582 | http://purl.obolibrary.org/obo/MONDO_0017338 |
multiple mitochondrial dysfunctions syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0013675 | http://purl.obolibrary.org/obo/MONDO_0017338 |
multiple mitochondrial dysfunctions syndrome 6 | http://purl.obolibrary.org/obo/MONDO_0054785 | http://purl.obolibrary.org/obo/MONDO_0017338 |
multiple mitochondrial dysfunctions syndrome 4 | http://purl.obolibrary.org/obo/MONDO_0014611 | http://purl.obolibrary.org/obo/MONDO_0017338 |
multiple mitochondrial dysfunctions syndrome 3 | http://purl.obolibrary.org/obo/MONDO_0014132 | http://purl.obolibrary.org/obo/MONDO_0017338 |
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | http://purl.obolibrary.org/obo/MONDO_0015003 | http://purl.obolibrary.org/obo/MONDO_0018424 |
lipoyl transferase 1 deficiency | http://purl.obolibrary.org/obo/MONDO_0014576 | http://purl.obolibrary.org/obo/MONDO_0018424 |
spasticity-ataxia-gait anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0014803 | http://purl.obolibrary.org/obo/MONDO_0018424 |
acquired partial lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0012104 | http://purl.obolibrary.org/obo/MONDO_0015327 |
COG7-CDG | http://purl.obolibrary.org/obo/MONDO_0012118 | http://purl.obolibrary.org/obo/MONDO_0015327 |
congenital isolated hyperinsulinism | http://purl.obolibrary.org/obo/MONDO_0019010 | http://purl.obolibrary.org/obo/MONDO_0015327 |
hyperinsulinemic hypoglycemia, familial, 2 | http://purl.obolibrary.org/obo/MONDO_0011153 | http://purl.obolibrary.org/obo/MONDO_0019010 |
autosomal recessive hyperinsulinism due to Kir6.2 deficiency | http://purl.obolibrary.org/obo/MONDO_0019334 | http://purl.obolibrary.org/obo/MONDO_0011153 |
diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | http://purl.obolibrary.org/obo/MONDO_0017188 | http://purl.obolibrary.org/obo/MONDO_0011153 |
autosomal dominant hyperinsulinism due to Kir6.2 deficiency | http://purl.obolibrary.org/obo/MONDO_0017185 | http://purl.obolibrary.org/obo/MONDO_0011153 |
diazoxide-sensitive diffuse hyperinsulinism | http://purl.obolibrary.org/obo/MONDO_0015624 | http://purl.obolibrary.org/obo/MONDO_0019010 |
hyperinsulinism due to glucokinase deficiency | http://purl.obolibrary.org/obo/MONDO_0011236 | http://purl.obolibrary.org/obo/MONDO_0015624 |
hyperinsulinism-hyperammonemia syndrome | http://purl.obolibrary.org/obo/MONDO_0011717 | http://purl.obolibrary.org/obo/MONDO_0015624 |
hyperinsulinism due to HNF1A deficiency | http://purl.obolibrary.org/obo/MONDO_0017935 | http://purl.obolibrary.org/obo/MONDO_0015624 |
autosomal dominant hyperinsulinism due to SUR1 deficiency | http://purl.obolibrary.org/obo/MONDO_0017184 | http://purl.obolibrary.org/obo/MONDO_0015624 |
hyperinsulinism due to UCP2 deficiency | http://purl.obolibrary.org/obo/MONDO_0017183 | http://purl.obolibrary.org/obo/MONDO_0015624 |
hyperinsulinism due to HNF4A deficiency | http://purl.obolibrary.org/obo/MONDO_0016988 | http://purl.obolibrary.org/obo/MONDO_0015624 |
exercise-induced hyperinsulinism | http://purl.obolibrary.org/obo/MONDO_0012396 | http://purl.obolibrary.org/obo/MONDO_0015624 |
hyperinsulinemic hypoglycemia, familial, 4 | http://purl.obolibrary.org/obo/MONDO_0012382 | http://purl.obolibrary.org/obo/MONDO_0015624 |
diazoxide-resistant hyperinsulinism | http://purl.obolibrary.org/obo/MONDO_0017186 | http://purl.obolibrary.org/obo/MONDO_0019010 |
diazoxide-resistant diffuse hyperinsulinism | http://purl.obolibrary.org/obo/MONDO_0015625 | http://purl.obolibrary.org/obo/MONDO_0017186 |
autosomal recessive hyperinsulinism due to SUR1 deficiency | http://purl.obolibrary.org/obo/MONDO_0019333 | http://purl.obolibrary.org/obo/MONDO_0015625 |
diazoxide-resistant focal hyperinsulinism | http://purl.obolibrary.org/obo/MONDO_0019265 | http://purl.obolibrary.org/obo/MONDO_0017186 |
diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | http://purl.obolibrary.org/obo/MONDO_0017187 | http://purl.obolibrary.org/obo/MONDO_0019265 |
SLC35A2-CDG | http://purl.obolibrary.org/obo/MONDO_0010478 | http://purl.obolibrary.org/obo/MONDO_0015327 |
classic homocystinuria | http://purl.obolibrary.org/obo/MONDO_0009352 | http://purl.obolibrary.org/obo/MONDO_0015327 |
branchial arch or oral-acral syndrome | http://purl.obolibrary.org/obo/MONDO_0015334 | http://purl.obolibrary.org/obo/MONDO_0019755 |
otofaciocervical syndrome | http://purl.obolibrary.org/obo/MONDO_0008163 | http://purl.obolibrary.org/obo/MONDO_0015334 |
epibulbar lipodermoid-preauricular appendage-polythelia syndrome | http://purl.obolibrary.org/obo/MONDO_0016510 | http://purl.obolibrary.org/obo/MONDO_0015334 |
progeroid syndrome | http://purl.obolibrary.org/obo/MONDO_0015333 | http://purl.obolibrary.org/obo/MONDO_0019755 |
Lipodystrophy - intellectual disability - deafness | http://www.orpha.net/ORDO/Orphanet_50811 | http://purl.obolibrary.org/obo/MONDO_0015333 |
acroosteolysis-keloid-like lesions-premature aging syndrome | http://purl.obolibrary.org/obo/MONDO_0011150 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Mandibuloacral dysplasia | http://www.orpha.net/ORDO/Orphanet_2457 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Mandibuloacral dysplasia with type A lipodystrophy | http://www.orpha.net/ORDO/Orphanet_90153 | http://www.orpha.net/ORDO/Orphanet_2457 |
Mandibuloacral dysplasia with type B lipodystrophy | http://www.orpha.net/ORDO/Orphanet_90154 | http://www.orpha.net/ORDO/Orphanet_2457 |
progeria-short stature-pigmented nevi syndrome | http://purl.obolibrary.org/obo/MONDO_0008311 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Familial partial lipodystrophy, Dunnigan type | http://www.orpha.net/ORDO/Orphanet_2348 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Acroosteolysis-keloid-like lesions-premature aging syndrome | http://www.orpha.net/ORDO/Orphanet_363665 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Mandibular hypoplasia-deafness-progeroid syndrome | http://www.orpha.net/ORDO/Orphanet_363649 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome | http://www.orpha.net/ORDO/Orphanet_276432 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Xeroderma pigmentosum | http://www.orpha.net/ORDO/Orphanet_910 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Xeroderma pigmentosum complementation group F | http://www.orpha.net/ORDO/Orphanet_276264 | http://www.orpha.net/ORDO/Orphanet_910 |
Xeroderma pigmentosum complementation group E | http://www.orpha.net/ORDO/Orphanet_276261 | http://www.orpha.net/ORDO/Orphanet_910 |
Xeroderma pigmentosum complementation group G | http://www.orpha.net/ORDO/Orphanet_276267 | http://www.orpha.net/ORDO/Orphanet_910 |
Xeroderma pigmentosum complementation group A | http://www.orpha.net/ORDO/Orphanet_276249 | http://www.orpha.net/ORDO/Orphanet_910 |
Xeroderma pigmentosum complementation group C | http://www.orpha.net/ORDO/Orphanet_276255 | http://www.orpha.net/ORDO/Orphanet_910 |
Xeroderma pigmentosum complementation group B | http://www.orpha.net/ORDO/Orphanet_276252 | http://www.orpha.net/ORDO/Orphanet_910 |
Xeroderma pigmentosum complementation group D | http://www.orpha.net/ORDO/Orphanet_276258 | http://www.orpha.net/ORDO/Orphanet_910 |
Xeroderma pigmentosum variant | http://www.orpha.net/ORDO/Orphanet_90342 | http://www.orpha.net/ORDO/Orphanet_910 |
Progéria - short stature - pigmented nevi | http://www.orpha.net/ORDO/Orphanet_2959 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Pseudoprogeria syndrome | http://www.orpha.net/ORDO/Orphanet_2985 | http://purl.obolibrary.org/obo/MONDO_0015333 |
atypical Werner syndrome | http://purl.obolibrary.org/obo/MONDO_0019321 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Leprechaunism | http://www.orpha.net/ORDO/Orphanet_508 | http://purl.obolibrary.org/obo/MONDO_0015333 |
progeria | http://purl.obolibrary.org/obo/MONDO_0020732 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Rothmund-Thomson syndrome | http://purl.obolibrary.org/obo/MONDO_0010002 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Rothmund-Thomson syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0016369 | http://purl.obolibrary.org/obo/MONDO_0010002 |
Rothmund-Thomson syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0016368 | http://purl.obolibrary.org/obo/MONDO_0010002 |
Xeroderma pigmentosum-Cockayne syndrome complex | http://www.orpha.net/ORDO/Orphanet_220295 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Werner syndrome | http://purl.obolibrary.org/obo/MONDO_0010196 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Ogden syndrome | http://purl.obolibrary.org/obo/MONDO_0010457 | http://purl.obolibrary.org/obo/MONDO_0015333 |
progeroid features-hepatocellular carcinoma predisposition syndrome | http://purl.obolibrary.org/obo/MONDO_0014527 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Atypical Werner syndrome | http://www.orpha.net/ORDO/Orphanet_79474 | http://purl.obolibrary.org/obo/MONDO_0015333 |
Lessel-Kubisch syndrome | http://www.ebi.ac.uk/efo/EFO_0010632 | http://purl.obolibrary.org/obo/MONDO_0015333 |
overgrowth/obesity syndrome | http://purl.obolibrary.org/obo/MONDO_0015330 | http://purl.obolibrary.org/obo/MONDO_0019755 |
overgrowth syndrome | http://purl.obolibrary.org/obo/MONDO_0019716 | http://purl.obolibrary.org/obo/MONDO_0015330 |
CLAPO syndrome | http://purl.obolibrary.org/obo/MONDO_0013125 | http://purl.obolibrary.org/obo/MONDO_0019716 |
segmental progressive overgrowth syndrome with fibroadipose hyperplasia | http://purl.obolibrary.org/obo/MONDO_0017812 | http://purl.obolibrary.org/obo/MONDO_0019716 |
neuroectodermal melanolysosomal disease | http://purl.obolibrary.org/obo/MONDO_0009742 | http://purl.obolibrary.org/obo/MONDO_0019716 |
Simpson-Golabi-Behmel syndrome | http://purl.obolibrary.org/obo/MONDO_0010731 | http://purl.obolibrary.org/obo/MONDO_0019716 |
Simpson-Golabi-Behmel syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0010265 | http://purl.obolibrary.org/obo/MONDO_0010731 |
Perlman syndrome | http://purl.obolibrary.org/obo/MONDO_0009965 | http://purl.obolibrary.org/obo/MONDO_0019716 |
hemifacial hypertrophy | http://purl.obolibrary.org/obo/MONDO_0007590 | http://purl.obolibrary.org/obo/MONDO_0019716 |
Beckwith-Wiedemann syndrome | http://purl.obolibrary.org/obo/MONDO_0007534 | http://purl.obolibrary.org/obo/MONDO_0019716 |
Beckwith-Wiedemann syndrome due to CDKN1C mutation | http://purl.obolibrary.org/obo/MONDO_0016476 | http://purl.obolibrary.org/obo/MONDO_0007534 |
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | http://purl.obolibrary.org/obo/MONDO_0016475 | http://purl.obolibrary.org/obo/MONDO_0007534 |
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion | http://purl.obolibrary.org/obo/MONDO_0016478 | http://purl.obolibrary.org/obo/MONDO_0007534 |
Beckwith-Wiedemann syndrome due to NSD1 mutation | http://purl.obolibrary.org/obo/MONDO_0016547 | http://purl.obolibrary.org/obo/MONDO_0007534 |
hemihyperplasia-multiple lipomatosis syndrome | http://purl.obolibrary.org/obo/MONDO_0017177 | http://purl.obolibrary.org/obo/MONDO_0019716 |
isolated hemihyperplasia | http://purl.obolibrary.org/obo/MONDO_0009331 | http://purl.obolibrary.org/obo/MONDO_0019716 |
hypoinsulinemic hypoglycemia and body hemihypertrophy | http://purl.obolibrary.org/obo/MONDO_0009416 | http://purl.obolibrary.org/obo/MONDO_0019716 |
global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome | http://purl.obolibrary.org/obo/MONDO_0018445 | http://purl.obolibrary.org/obo/MONDO_0019716 |
syndromic genetic obesity | http://purl.obolibrary.org/obo/MONDO_0016565 | http://purl.obolibrary.org/obo/MONDO_0015330 |
MOMO syndrome | http://purl.obolibrary.org/obo/MONDO_0008008 | http://purl.obolibrary.org/obo/MONDO_0016565 |
rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome | http://purl.obolibrary.org/obo/MONDO_0017408 | http://purl.obolibrary.org/obo/MONDO_0016565 |
spastic paraplegia, intellectual disability, nystagmus, and obesity; | http://purl.obolibrary.org/obo/MONDO_0015007 | http://purl.obolibrary.org/obo/MONDO_0016565 |
Fragile X syndrome | http://www.orpha.net/ORDO/Orphanet_908 | http://purl.obolibrary.org/obo/MONDO_0016565 |
MORM syndrome | http://purl.obolibrary.org/obo/MONDO_0012423 | http://purl.obolibrary.org/obo/MONDO_0016565 |
MEHMO syndrome | http://purl.obolibrary.org/obo/MONDO_0010258 | http://purl.obolibrary.org/obo/MONDO_0016565 |
Coffin-Lowry syndrome | http://purl.obolibrary.org/obo/MONDO_0010561 | http://purl.obolibrary.org/obo/MONDO_0016565 |
Wilson-Turner syndrome | http://purl.obolibrary.org/obo/MONDO_0010665 | http://purl.obolibrary.org/obo/MONDO_0016565 |
motor developmental delay due to 14q32.2 paternally expressed gene defect | http://purl.obolibrary.org/obo/MONDO_0014541 | http://purl.obolibrary.org/obo/MONDO_0016565 |
paternal 14q32.2 hypomethylation syndrome | http://purl.obolibrary.org/obo/MONDO_0016782 | http://purl.obolibrary.org/obo/MONDO_0014541 |
hydrocephalus-obesity-hypogonadism syndrome | http://purl.obolibrary.org/obo/MONDO_0016346 | http://purl.obolibrary.org/obo/MONDO_0016565 |
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0018123 | http://purl.obolibrary.org/obo/MONDO_0016565 |
marfanoid habitus-inguinal hernia-advanced bone age syndrome | http://purl.obolibrary.org/obo/MONDO_0017793 | http://purl.obolibrary.org/obo/MONDO_0019755 |
hydrops fetalis | http://purl.obolibrary.org/obo/MONDO_0015193 | http://purl.obolibrary.org/obo/MONDO_0019755 |
Hb Bart's hydrops fetalis | http://purl.obolibrary.org/obo/MONDO_0015579 | http://purl.obolibrary.org/obo/MONDO_0015193 |
PTEN hamartoma tumor syndrome | http://purl.obolibrary.org/obo/MONDO_0017623 | http://purl.obolibrary.org/obo/MONDO_0019755 |
Cowden disease | http://purl.obolibrary.org/obo/MONDO_0016063 | http://purl.obolibrary.org/obo/MONDO_0017623 |
phakomatosis pigmentovascularis | http://purl.obolibrary.org/obo/MONDO_0017318 | http://purl.obolibrary.org/obo/MONDO_0019755 |
phakomatosis cesioflammea | http://purl.obolibrary.org/obo/MONDO_0019325 | http://purl.obolibrary.org/obo/MONDO_0017318 |
phakomatosis cesiomarmorata | http://purl.obolibrary.org/obo/MONDO_0019326 | http://purl.obolibrary.org/obo/MONDO_0017318 |
phakomatosis spilorosea | http://purl.obolibrary.org/obo/MONDO_0019327 | http://purl.obolibrary.org/obo/MONDO_0017318 |
genetic cardiac anomaly | http://purl.obolibrary.org/obo/MONDO_0017131 | http://purl.obolibrary.org/obo/MONDO_0021147 |
L1 syndrome | http://purl.obolibrary.org/obo/MONDO_0017140 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Hydrocephalus with stenosis of the aqueduct of Sylvius | http://www.orpha.net/ORDO/Orphanet_2182 | http://purl.obolibrary.org/obo/MONDO_0017140 |
X-linked complicated spastic paraplegia type 1 | http://purl.obolibrary.org/obo/MONDO_0017630 | http://purl.obolibrary.org/obo/MONDO_0017140 |
X-linked complicated corpus callosum dysgenesis | http://purl.obolibrary.org/obo/MONDO_0010569 | http://purl.obolibrary.org/obo/MONDO_0017140 |
MASA syndrome | http://purl.obolibrary.org/obo/MONDO_0010559 | http://purl.obolibrary.org/obo/MONDO_0017140 |
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome | http://purl.obolibrary.org/obo/MONDO_0019426 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Noonan syndrome and Noonan-related syndrome | http://purl.obolibrary.org/obo/MONDO_0020297 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | http://www.orpha.net/ORDO/Orphanet_363972 | http://purl.obolibrary.org/obo/MONDO_0020297 |
Cardiofaciocutaneous syndrome | http://www.orpha.net/ORDO/Orphanet_1340 | http://purl.obolibrary.org/obo/MONDO_0020297 |
loose anagen syndrome | http://purl.obolibrary.org/obo/MONDO_0010908 | http://purl.obolibrary.org/obo/MONDO_0021147 |
premature aging syndrome | http://purl.obolibrary.org/obo/MONDO_0019303 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Acrogeria | http://www.orpha.net/ORDO/Orphanet_2500 | http://purl.obolibrary.org/obo/MONDO_0019303 |
de Barsy syndrome | http://purl.obolibrary.org/obo/MONDO_0017569 | http://purl.obolibrary.org/obo/MONDO_0019303 |
De Barsy syndrome | http://www.orpha.net/ORDO/Orphanet_2962 | http://purl.obolibrary.org/obo/MONDO_0019303 |
ALDH18A1-related De Barsy syndrome | http://www.orpha.net/ORDO/Orphanet_35664 | http://www.orpha.net/ORDO/Orphanet_2962 |
PYCR1-related De Barsy syndrome | http://www.orpha.net/ORDO/Orphanet_293633 | http://www.orpha.net/ORDO/Orphanet_2962 |
Progeroid syndrome, Petty type | http://www.orpha.net/ORDO/Orphanet_2963 | http://purl.obolibrary.org/obo/MONDO_0019303 |
Flynn-Aird syndrome | http://purl.obolibrary.org/obo/MONDO_0007624 | http://purl.obolibrary.org/obo/MONDO_0019303 |
Hallermann-Streiff syndrome | http://purl.obolibrary.org/obo/MONDO_0009318 | http://purl.obolibrary.org/obo/MONDO_0019303 |
telomere syndrome | http://purl.obolibrary.org/obo/MONDO_0100137 | http://purl.obolibrary.org/obo/MONDO_0019303 |
facioscapulohumeral muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0001347 | http://purl.obolibrary.org/obo/MONDO_0100137 |
aplastic anemia | http://purl.obolibrary.org/obo/MONDO_0015909 | http://purl.obolibrary.org/obo/MONDO_0100137 |
inherited aplastic anemia | http://purl.obolibrary.org/obo/MONDO_0001713 | http://purl.obolibrary.org/obo/MONDO_0015909 |
autosomal dominant aplasia and myelodysplasia | http://purl.obolibrary.org/obo/MONDO_0013851 | http://purl.obolibrary.org/obo/MONDO_0001713 |
congenital amegakaryocytic thrombocytopenia | http://purl.obolibrary.org/obo/MONDO_0011469 | http://purl.obolibrary.org/obo/MONDO_0001713 |
Diamond-Blackfan anemia | http://purl.obolibrary.org/obo/MONDO_0015253 | http://purl.obolibrary.org/obo/MONDO_0001713 |
Blackfan-Diamond anemia | http://www.orpha.net/ORDO/Orphanet_124 | http://purl.obolibrary.org/obo/MONDO_0001713 |
Congenital amegakaryocytic thrombocytopenia | http://www.orpha.net/ORDO/Orphanet_3319 | http://purl.obolibrary.org/obo/MONDO_0001713 |
pancytopenia-developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0014317 | http://purl.obolibrary.org/obo/MONDO_0001713 |
Dyskeratosis congenita | http://www.orpha.net/ORDO/Orphanet_1775 | http://purl.obolibrary.org/obo/MONDO_0001713 |
WT limb-blood syndrome | http://purl.obolibrary.org/obo/MONDO_0008688 | http://purl.obolibrary.org/obo/MONDO_0001713 |
hereditary isolated aplastic anemia | http://purl.obolibrary.org/obo/MONDO_0018340 | http://purl.obolibrary.org/obo/MONDO_0001713 |
Rare constitutional medullar aplasia | http://www.orpha.net/ORDO/Orphanet_68383 | http://purl.obolibrary.org/obo/MONDO_0015909 |
Autosomal dominant aplasia and myelodysplasia | http://www.orpha.net/ORDO/Orphanet_314399 | http://www.orpha.net/ORDO/Orphanet_68383 |
Pancytopenia-developmental delay syndrome | http://www.orpha.net/ORDO/Orphanet_401764 | http://www.orpha.net/ORDO/Orphanet_68383 |
Hereditary isolated aplastic anemia | http://www.orpha.net/ORDO/Orphanet_397692 | http://www.orpha.net/ORDO/Orphanet_68383 |
idiopathic aplastic anemia | http://purl.obolibrary.org/obo/MONDO_0012197 | http://purl.obolibrary.org/obo/MONDO_0015909 |
myelophthisic anemia | http://www.ebi.ac.uk/efo/EFO_0007388 | http://purl.obolibrary.org/obo/MONDO_0012197 |
Coats plus syndrome | http://purl.obolibrary.org/obo/MONDO_0012815 | http://purl.obolibrary.org/obo/MONDO_0100137 |
immunodeficiency-centromeric instability-facial anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0000133 | http://purl.obolibrary.org/obo/MONDO_0100137 |
acrogeria | http://purl.obolibrary.org/obo/MONDO_0008716 | http://purl.obolibrary.org/obo/MONDO_0019303 |
LMNA-related cardiocutaneous progeria syndrome | http://purl.obolibrary.org/obo/MONDO_0018203 | http://purl.obolibrary.org/obo/MONDO_0019303 |
postaxial polydactyly-dental and vertebral anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0009895 | http://purl.obolibrary.org/obo/MONDO_0021147 |
oculocerebral hypopigmentation syndrome, Cross type | http://purl.obolibrary.org/obo/MONDO_0009767 | http://purl.obolibrary.org/obo/MONDO_0021147 |
steroid dehydrogenase deficiency-dental anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0017904 | http://purl.obolibrary.org/obo/MONDO_0021147 |
teratogenic Pierre Robin syndrome | http://purl.obolibrary.org/obo/MONDO_0015323 | http://purl.obolibrary.org/obo/MONDO_0021147 |
orofacial clefting syndrome | http://purl.obolibrary.org/obo/MONDO_0015335 | http://purl.obolibrary.org/obo/MONDO_0021147 |
robin sequence-oligodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0008247 | http://purl.obolibrary.org/obo/MONDO_0015335 |
dysmorphism-cleft palate-loose skin syndrome | http://purl.obolibrary.org/obo/MONDO_0015782 | http://purl.obolibrary.org/obo/MONDO_0015335 |
Pilotto syndrome | http://purl.obolibrary.org/obo/MONDO_0017331 | http://purl.obolibrary.org/obo/MONDO_0015335 |
syngnathia-cleft palate syndrome | http://purl.obolibrary.org/obo/MONDO_0017981 | http://purl.obolibrary.org/obo/MONDO_0015335 |
ankyloblepharon filiforme adnatum-cleft palate syndrome | http://purl.obolibrary.org/obo/MONDO_0007123 | http://purl.obolibrary.org/obo/MONDO_0015335 |
Bailey-Bloch congenital myopathy | http://purl.obolibrary.org/obo/MONDO_0009722 | http://purl.obolibrary.org/obo/MONDO_0015335 |
Pierre Robin syndrome-faciodigital anomaly syndrome | http://purl.obolibrary.org/obo/MONDO_0010710 | http://purl.obolibrary.org/obo/MONDO_0015335 |
hydrolethalus syndrome | http://purl.obolibrary.org/obo/MONDO_0006037 | http://purl.obolibrary.org/obo/MONDO_0015335 |
hydrolethalus syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0013585 | http://purl.obolibrary.org/obo/MONDO_0006037 |
thrombocytopenia-robin sequence syndrome | http://purl.obolibrary.org/obo/MONDO_0018046 | http://purl.obolibrary.org/obo/MONDO_0015335 |
cleft palate-large ears-small head syndrome | http://purl.obolibrary.org/obo/MONDO_0008402 | http://purl.obolibrary.org/obo/MONDO_0015335 |
dysraphism-cleft lip/palate-limb reduction defects syndrome | http://purl.obolibrary.org/obo/MONDO_0016604 | http://purl.obolibrary.org/obo/MONDO_0015335 |
contractures-ectodermal dysplasia-cleft lip/palate syndrome | http://purl.obolibrary.org/obo/MONDO_0010531 | http://purl.obolibrary.org/obo/MONDO_0015335 |
Bamforth-Lazarus syndrome | http://purl.obolibrary.org/obo/MONDO_0009437 | http://purl.obolibrary.org/obo/MONDO_0015335 |
cleft lip/palate-ectodermal dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0009151 | http://purl.obolibrary.org/obo/MONDO_0015335 |
Zlotogora-Ogur syndrome | http://www.orpha.net/ORDO/Orphanet_3253 | http://purl.obolibrary.org/obo/MONDO_0009151 |
macular coloboma-cleft palate-hallux valgus syndrome | http://purl.obolibrary.org/obo/MONDO_0009001 | http://purl.obolibrary.org/obo/MONDO_0015335 |
blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0015256 | http://purl.obolibrary.org/obo/MONDO_0021147 |
congenital enteropathy involving intestinal mucosa development | http://purl.obolibrary.org/obo/MONDO_0015182 | http://purl.obolibrary.org/obo/MONDO_0021147 |
congenital diarrhea 5 with tufting enteropathy | http://purl.obolibrary.org/obo/MONDO_0013184 | http://purl.obolibrary.org/obo/MONDO_0015182 |
congenital enterocyte heparan sulfate deficiency | http://purl.obolibrary.org/obo/MONDO_0015171 | http://purl.obolibrary.org/obo/MONDO_0015182 |
congenital malabsorptive diarrhea 4 | http://purl.obolibrary.org/obo/MONDO_0012479 | http://purl.obolibrary.org/obo/MONDO_0015182 |
microvillus inclusion disease | http://purl.obolibrary.org/obo/MONDO_0009635 | http://purl.obolibrary.org/obo/MONDO_0015182 |
genetic head and neck malformation | http://purl.obolibrary.org/obo/MONDO_0015961 | http://purl.obolibrary.org/obo/MONDO_0021147 |
genetic otorhinolaryngological malformation | http://purl.obolibrary.org/obo/MONDO_0018562 | http://purl.obolibrary.org/obo/MONDO_0015961 |
porencephaly-microcephaly-bilateral congenital cataract syndrome | http://purl.obolibrary.org/obo/MONDO_0013394 | http://purl.obolibrary.org/obo/MONDO_0021147 |
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | http://purl.obolibrary.org/obo/MONDO_0015701 | http://purl.obolibrary.org/obo/MONDO_0021147 |
microcephaly-polymicrogyria-corpus callosum agenesis syndrome | http://purl.obolibrary.org/obo/MONDO_0015745 | http://purl.obolibrary.org/obo/MONDO_0021147 |
cataract - congenital heart disease - neural tube defect syndrome | http://purl.obolibrary.org/obo/MONDO_0011995 | http://purl.obolibrary.org/obo/MONDO_0021147 |
Amish lethal microcephaly | http://purl.obolibrary.org/obo/MONDO_0011790 | http://purl.obolibrary.org/obo/MONDO_0021147 |
upper digestive tract disorder | http://purl.obolibrary.org/obo/MONDO_0044991 | http://www.ebi.ac.uk/efo/EFO_0000408 |
esophageal disease | http://www.ebi.ac.uk/efo/EFO_0009544 | http://purl.obolibrary.org/obo/MONDO_0044991 |
Esophageal stricture | http://purl.obolibrary.org/obo/HP_0002043 | http://www.ebi.ac.uk/efo/EFO_0009544 |
Esophagitis | http://purl.obolibrary.org/obo/HP_0100633 | http://www.ebi.ac.uk/efo/EFO_0009544 |
esophagitis | http://purl.obolibrary.org/obo/MONDO_0001409 | http://www.ebi.ac.uk/efo/EFO_0009544 |
eosinophilic esophagitis | http://www.ebi.ac.uk/efo/EFO_0004232 | http://purl.obolibrary.org/obo/MONDO_0001409 |
childhood eosinophilic esophagitis | http://www.ebi.ac.uk/efo/EFO_0004594 | http://www.ebi.ac.uk/efo/EFO_0004232 |
peptic esophagitis | http://www.ebi.ac.uk/efo/EFO_1001095 | http://purl.obolibrary.org/obo/MONDO_0001409 |
Esophageal malformation | http://www.orpha.net/ORDO/Orphanet_88993 | http://www.ebi.ac.uk/efo/EFO_0009544 |
Genetic syndromic esophageal malformation | http://www.orpha.net/ORDO/Orphanet_371445 | http://www.orpha.net/ORDO/Orphanet_88993 |
Achalasia - microcephaly | http://www.orpha.net/ORDO/Orphanet_929 | http://www.orpha.net/ORDO/Orphanet_371445 |
Triple A syndrome | http://www.orpha.net/ORDO/Orphanet_869 | http://www.orpha.net/ORDO/Orphanet_371445 |
Non-syndromic esophageal malformation | http://www.orpha.net/ORDO/Orphanet_108959 | http://www.orpha.net/ORDO/Orphanet_88993 |
Duplication of the esophagus | http://www.orpha.net/ORDO/Orphanet_91357 | http://www.orpha.net/ORDO/Orphanet_108959 |
Esophageal duplication cyst | http://www.orpha.net/ORDO/Orphanet_100047 | http://www.orpha.net/ORDO/Orphanet_91357 |
Tubular duplication of the esophagus | http://www.orpha.net/ORDO/Orphanet_100048 | http://www.orpha.net/ORDO/Orphanet_91357 |
Congenital esophageal diverticulum | http://www.orpha.net/ORDO/Orphanet_91358 | http://www.orpha.net/ORDO/Orphanet_108959 |
gastroesophageal reflux disease | http://www.ebi.ac.uk/efo/EFO_0003948 | http://www.ebi.ac.uk/efo/EFO_0009544 |
Laryngopharyngeal Reflux | http://www.ebi.ac.uk/efo/EFO_1001355 | http://www.ebi.ac.uk/efo/EFO_0003948 |
duodenogastric reflux | http://www.ebi.ac.uk/efo/EFO_1000909 | http://www.ebi.ac.uk/efo/EFO_0003948 |
diffuse esophageal spasm | http://www.ebi.ac.uk/efo/EFO_1001785 | http://www.ebi.ac.uk/efo/EFO_0009544 |
Zenker diverticulum | http://www.ebi.ac.uk/efo/EFO_1001867 | http://www.ebi.ac.uk/efo/EFO_0009544 |
esophageal ulcer | http://purl.obolibrary.org/obo/MONDO_0044782 | http://www.ebi.ac.uk/efo/EFO_0009544 |
Barrett's esophagus | http://www.ebi.ac.uk/efo/EFO_0000280 | http://www.ebi.ac.uk/efo/EFO_0009544 |
esophageal varices | http://www.ebi.ac.uk/efo/EFO_0009545 | http://www.ebi.ac.uk/efo/EFO_0009544 |
Genetic gastro-esophageal disease | http://www.orpha.net/ORDO/Orphanet_165658 | http://www.ebi.ac.uk/efo/EFO_0009544 |
Palmoplantar keratoderma-esophageal carcinoma syndrome | http://www.orpha.net/ORDO/Orphanet_2198 | http://www.orpha.net/ORDO/Orphanet_165658 |
Cystic fibrosis - gastritis - megaloblastic anemia | http://www.orpha.net/ORDO/Orphanet_2575 | http://www.orpha.net/ORDO/Orphanet_165658 |
Familial esophageal achalasia | http://www.orpha.net/ORDO/Orphanet_99723 | http://www.orpha.net/ORDO/Orphanet_165658 |
esophageal diverticulosis | http://www.ebi.ac.uk/efo/EFO_1000930 | http://www.ebi.ac.uk/efo/EFO_0009544 |
mitochondrial disease | http://purl.obolibrary.org/obo/MONDO_0044970 | http://www.ebi.ac.uk/efo/EFO_0000408 |
GRACILE syndrome | http://purl.obolibrary.org/obo/MONDO_0011308 | http://purl.obolibrary.org/obo/MONDO_0044970 |
maternally-inherited cardiomyopathy and hearing loss | http://purl.obolibrary.org/obo/MONDO_0015283 | http://purl.obolibrary.org/obo/MONDO_0044970 |
hereditary myopathy with lactic acidosis due to ISCU deficiency | http://purl.obolibrary.org/obo/MONDO_0009706 | http://purl.obolibrary.org/obo/MONDO_0044970 |
Bjornstad syndrome | http://purl.obolibrary.org/obo/MONDO_0009872 | http://purl.obolibrary.org/obo/MONDO_0044970 |
severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency | http://purl.obolibrary.org/obo/MONDO_0018337 | http://purl.obolibrary.org/obo/MONDO_0044970 |
endocrine system disease | http://www.ebi.ac.uk/efo/EFO_0001379 | http://www.ebi.ac.uk/efo/EFO_0000408 |
genetic endocrine growth disease | http://purl.obolibrary.org/obo/MONDO_0015514 | http://www.ebi.ac.uk/efo/EFO_0001379 |
growth hormone insensitivity syndrome | http://purl.obolibrary.org/obo/MONDO_0015892 | http://purl.obolibrary.org/obo/MONDO_0015514 |
short stature due to partial GHR deficiency | http://purl.obolibrary.org/obo/MONDO_0011420 | http://purl.obolibrary.org/obo/MONDO_0015892 |
Laron syndrome | http://purl.obolibrary.org/obo/MONDO_0009877 | http://purl.obolibrary.org/obo/MONDO_0015892 |
growth delay due to insulin-like growth factor I resistance | http://purl.obolibrary.org/obo/MONDO_0010038 | http://purl.obolibrary.org/obo/MONDO_0015892 |
short stature due to primary acid-labile subunit deficiency | http://purl.obolibrary.org/obo/MONDO_0014420 | http://purl.obolibrary.org/obo/MONDO_0015892 |
growth delay due to insulin-like growth factor type 1 deficiency | http://purl.obolibrary.org/obo/MONDO_0012110 | http://purl.obolibrary.org/obo/MONDO_0015892 |
growth hormone insensitivity syndrome with immune dysregulation | http://purl.obolibrary.org/obo/MONDO_0100210 | http://purl.obolibrary.org/obo/MONDO_0015892 |
growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0100219 | http://purl.obolibrary.org/obo/MONDO_0100210 |
growth hormone insensitivity with immune dysregulation 1, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0100211 | http://purl.obolibrary.org/obo/MONDO_0100210 |
inherited primary ovarian failure | http://purl.obolibrary.org/obo/MONDO_0019852 | http://purl.obolibrary.org/obo/MONDO_0015514 |
blepharophimosis, ptosis, and epicanthus inversus syndrome | http://purl.obolibrary.org/obo/MONDO_0007201 | http://purl.obolibrary.org/obo/MONDO_0019852 |
blepharophimosis-epicanthus inversus-ptosis due to copy number variations | http://purl.obolibrary.org/obo/MONDO_0016859 | http://purl.obolibrary.org/obo/MONDO_0007201 |
blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome | http://purl.obolibrary.org/obo/MONDO_0016858 | http://purl.obolibrary.org/obo/MONDO_0007201 |
classic galactosemia | http://purl.obolibrary.org/obo/MONDO_0009258 | http://purl.obolibrary.org/obo/MONDO_0019852 |
osteosclerosis-ichthyosis-premature ovarian failure syndrome | http://purl.obolibrary.org/obo/MONDO_0012387 | http://purl.obolibrary.org/obo/MONDO_0019852 |
ataxia telangiectasia | http://purl.obolibrary.org/obo/MONDO_0008840 | http://purl.obolibrary.org/obo/MONDO_0019852 |
microcephalic primordial dwarfism-insulin resistance syndrome | http://purl.obolibrary.org/obo/MONDO_0018575 | http://purl.obolibrary.org/obo/MONDO_0019852 |
non-acquired pituitary hormone deficiency | http://purl.obolibrary.org/obo/MONDO_0019824 | http://purl.obolibrary.org/obo/MONDO_0015514 |
congenital hypogonadotropic hypogonadism | http://purl.obolibrary.org/obo/MONDO_0015770 | http://purl.obolibrary.org/obo/MONDO_0019824 |
sickle cell anemia | http://purl.obolibrary.org/obo/MONDO_0011382 | http://purl.obolibrary.org/obo/MONDO_0015770 |
combined pituitary hormone deficiencies, genetic form | http://purl.obolibrary.org/obo/MONDO_0013099 | http://purl.obolibrary.org/obo/MONDO_0015770 |
short stature-pituitary and cerebellar defects-small sella turcica syndrome | http://purl.obolibrary.org/obo/MONDO_0009880 | http://purl.obolibrary.org/obo/MONDO_0013099 |
panhypopituitarism | http://purl.obolibrary.org/obo/MONDO_0019591 | http://purl.obolibrary.org/obo/MONDO_0013099 |
Adrenocorticotropic hormone deficiency | http://www.ebi.ac.uk/efo/EFO_1001979 | http://purl.obolibrary.org/obo/MONDO_0013099 |
pituitary hormone deficiency, combined, 1 | http://purl.obolibrary.org/obo/MONDO_0024464 | http://purl.obolibrary.org/obo/MONDO_0013099 |
non-acquired combined pituitary hormone deficiency with spine abnormalities | http://purl.obolibrary.org/obo/MONDO_0009091 | http://purl.obolibrary.org/obo/MONDO_0013099 |
isolated congenital growth hormone deficiency | http://purl.obolibrary.org/obo/MONDO_0000050 | http://purl.obolibrary.org/obo/MONDO_0013099 |
isolated growth hormone deficiency type II | http://purl.obolibrary.org/obo/MONDO_0008250 | http://purl.obolibrary.org/obo/MONDO_0000050 |
isolated growth hormone deficiency type IB | http://purl.obolibrary.org/obo/MONDO_0013006 | http://purl.obolibrary.org/obo/MONDO_0000050 |
isolated growth hormone deficiency type IA | http://purl.obolibrary.org/obo/MONDO_0009876 | http://purl.obolibrary.org/obo/MONDO_0000050 |
short stature due to growth hormone qualitative anomaly | http://purl.obolibrary.org/obo/MONDO_0009879 | http://purl.obolibrary.org/obo/MONDO_0000050 |
isolated growth hormone deficiency type III | http://purl.obolibrary.org/obo/MONDO_0010615 | http://purl.obolibrary.org/obo/MONDO_0000050 |
short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | http://purl.obolibrary.org/obo/MONDO_0018967 | http://purl.obolibrary.org/obo/MONDO_0010615 |
septooptic dysplasia | http://purl.obolibrary.org/obo/MONDO_0008428 | http://purl.obolibrary.org/obo/MONDO_0013099 |
hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome | http://purl.obolibrary.org/obo/MONDO_0019505 | http://purl.obolibrary.org/obo/MONDO_0015770 |
ANE syndrome | http://purl.obolibrary.org/obo/MONDO_0012794 | http://purl.obolibrary.org/obo/MONDO_0015770 |
X-linked adrenal hypoplasia congenita | http://purl.obolibrary.org/obo/MONDO_0010264 | http://purl.obolibrary.org/obo/MONDO_0015770 |
Woodhouse-Sakati syndrome | http://purl.obolibrary.org/obo/MONDO_0009419 | http://purl.obolibrary.org/obo/MONDO_0015770 |
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome | http://purl.obolibrary.org/obo/MONDO_0016819 | http://purl.obolibrary.org/obo/MONDO_0015770 |
polyendocrine-polyneuropathy syndrome | http://purl.obolibrary.org/obo/MONDO_0014497 | http://purl.obolibrary.org/obo/MONDO_0015770 |
hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | http://purl.obolibrary.org/obo/MONDO_0016393 | http://purl.obolibrary.org/obo/MONDO_0015770 |
hypogonadotropic hypogonadism-frontoparietal alopecia syndrome | http://purl.obolibrary.org/obo/MONDO_0016384 | http://purl.obolibrary.org/obo/MONDO_0015770 |
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome | http://purl.obolibrary.org/obo/MONDO_0016386 | http://purl.obolibrary.org/obo/MONDO_0015770 |
isolated congenital hypogonadotropic hypogonadism | http://purl.obolibrary.org/obo/MONDO_0016553 | http://purl.obolibrary.org/obo/MONDO_0015770 |
obesity due to congenital leptin deficiency | http://purl.obolibrary.org/obo/MONDO_0013991 | http://purl.obolibrary.org/obo/MONDO_0016553 |
obesity due to leptin receptor gene deficiency | http://purl.obolibrary.org/obo/MONDO_0013992 | http://purl.obolibrary.org/obo/MONDO_0016553 |
obesity due to prohormone convertase I deficiency | http://purl.obolibrary.org/obo/MONDO_0010961 | http://purl.obolibrary.org/obo/MONDO_0016553 |
ataxia-hypogonadism-choroidal dystrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0008980 | http://purl.obolibrary.org/obo/MONDO_0015770 |
cerebellar ataxia-hypogonadism syndrome | http://purl.obolibrary.org/obo/MONDO_0008935 | http://purl.obolibrary.org/obo/MONDO_0015770 |
pituitary stalk interruption syndrome | http://purl.obolibrary.org/obo/MONDO_0019828 | http://purl.obolibrary.org/obo/MONDO_0019824 |
isolated thyroid-stimulating hormone deficiency | http://purl.obolibrary.org/obo/MONDO_0010139 | http://purl.obolibrary.org/obo/MONDO_0019824 |
short stature due to GHSR deficiency | http://purl.obolibrary.org/obo/MONDO_0014403 | http://purl.obolibrary.org/obo/MONDO_0019824 |
non-acquired combined pituitary hormone deficiency | http://purl.obolibrary.org/obo/MONDO_0018762 | http://purl.obolibrary.org/obo/MONDO_0019824 |
deficiency in anterior pituitary function - variable immunodeficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0017407 | http://purl.obolibrary.org/obo/MONDO_0018762 |
permanent congenital hypothyroidism | http://purl.obolibrary.org/obo/MONDO_0016408 | http://purl.obolibrary.org/obo/MONDO_0015514 |
syndromic hypothyroidism | http://purl.obolibrary.org/obo/MONDO_0015778 | http://purl.obolibrary.org/obo/MONDO_0016408 |
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0019506 | http://purl.obolibrary.org/obo/MONDO_0015778 |
brain-lung-thyroid syndrome | http://purl.obolibrary.org/obo/MONDO_0012593 | http://purl.obolibrary.org/obo/MONDO_0015778 |
hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome | http://purl.obolibrary.org/obo/MONDO_0009150 | http://purl.obolibrary.org/obo/MONDO_0015778 |
Allan-Herndon-Dudley syndrome | http://purl.obolibrary.org/obo/MONDO_0010354 | http://purl.obolibrary.org/obo/MONDO_0015778 |
X-linked central congenital hypothyroidism with late-onset testicular enlargement | http://purl.obolibrary.org/obo/MONDO_0010475 | http://purl.obolibrary.org/obo/MONDO_0015778 |
muscular pseudohypertrophy-hypothyroidism syndrome | http://purl.obolibrary.org/obo/MONDO_0016521 | http://purl.obolibrary.org/obo/MONDO_0015778 |
primary congenital hypothyroidism | http://purl.obolibrary.org/obo/MONDO_0016409 | http://purl.obolibrary.org/obo/MONDO_0016408 |
thyroid hemiagenesis | http://purl.obolibrary.org/obo/MONDO_0019860 | http://purl.obolibrary.org/obo/MONDO_0016409 |
thyroid hypoplasia | http://purl.obolibrary.org/obo/MONDO_0019861 | http://purl.obolibrary.org/obo/MONDO_0016409 |
thyroid ectopia | http://purl.obolibrary.org/obo/MONDO_0019854 | http://purl.obolibrary.org/obo/MONDO_0016409 |
athyreosis | http://purl.obolibrary.org/obo/MONDO_0019855 | http://purl.obolibrary.org/obo/MONDO_0016409 |
hypothyroidism due to TSH receptor mutations | http://purl.obolibrary.org/obo/MONDO_0010142 | http://purl.obolibrary.org/obo/MONDO_0016409 |
familial thyroid dyshormonogenesis | http://purl.obolibrary.org/obo/MONDO_0010132 | http://purl.obolibrary.org/obo/MONDO_0016409 |
central congenital hypothyroidism | http://purl.obolibrary.org/obo/MONDO_0016410 | http://purl.obolibrary.org/obo/MONDO_0016408 |
resistance to thyrotropin-releasing hormone syndrome | http://purl.obolibrary.org/obo/MONDO_0020503 | http://purl.obolibrary.org/obo/MONDO_0016410 |
isolated thyrotropin-releasing hormone deficiency | http://purl.obolibrary.org/obo/MONDO_0010140 | http://purl.obolibrary.org/obo/MONDO_0016410 |
hypothyroidism due to deficient transcription factors involved in pituitary development or function | http://purl.obolibrary.org/obo/MONDO_0016411 | http://purl.obolibrary.org/obo/MONDO_0016410 |
peripheral hypothyroidism | http://purl.obolibrary.org/obo/MONDO_0016412 | http://purl.obolibrary.org/obo/MONDO_0016408 |
peripheral resistance to thyroid hormones | http://purl.obolibrary.org/obo/MONDO_0019995 | http://purl.obolibrary.org/obo/MONDO_0016412 |
short stature-delayed bone age due to thyroid hormone metabolism deficiency | http://purl.obolibrary.org/obo/MONDO_0012332 | http://purl.obolibrary.org/obo/MONDO_0016412 |
genetic non-acquired premature ovarian failure | http://www.ebi.ac.uk/efo/EFO_0010646 | http://purl.obolibrary.org/obo/MONDO_0015514 |
congenital adrenal hyperplasia | http://purl.obolibrary.org/obo/MONDO_0018479 | http://purl.obolibrary.org/obo/MONDO_0015514 |
disorders of vitamin D metabolism | http://purl.obolibrary.org/obo/MONDO_0017322 | http://www.ebi.ac.uk/efo/EFO_0001379 |
hypocalcemic rickets | http://purl.obolibrary.org/obo/MONDO_0017323 | http://purl.obolibrary.org/obo/MONDO_0017322 |
vitamin D-dependent rickets, type 1 | http://purl.obolibrary.org/obo/MONDO_0009924 | http://purl.obolibrary.org/obo/MONDO_0017323 |
vitamin D-dependent rickets, type 1A | http://purl.obolibrary.org/obo/MONDO_0020723 | http://purl.obolibrary.org/obo/MONDO_0009924 |
vitamin D-dependent rickets, type 2 | http://purl.obolibrary.org/obo/MONDO_0019642 | http://purl.obolibrary.org/obo/MONDO_0017323 |
familial infantile gigantism | http://purl.obolibrary.org/obo/MONDO_0017581 | http://www.ebi.ac.uk/efo/EFO_0001379 |
Rare genetic endocrine disease | http://www.orpha.net/ORDO/Orphanet_156638 | http://www.ebi.ac.uk/efo/EFO_0001379 |
Rare dyslipidemia | http://www.orpha.net/ORDO/Orphanet_101953 | http://www.orpha.net/ORDO/Orphanet_156638 |
Rare syndromic dyslipidemia | http://www.orpha.net/ORDO/Orphanet_181437 | http://www.orpha.net/ORDO/Orphanet_101953 |
Cerebrotendinous xanthomatosis | http://www.orpha.net/ORDO/Orphanet_909 | http://www.orpha.net/ORDO/Orphanet_181437 |
Sitosterolemia | http://www.orpha.net/ORDO/Orphanet_2882 | http://www.orpha.net/ORDO/Orphanet_181437 |
Lipoprotein glomerulopathy | http://www.orpha.net/ORDO/Orphanet_329481 | http://www.orpha.net/ORDO/Orphanet_181437 |
Lysosomal acid lipase deficiency | http://www.orpha.net/ORDO/Orphanet_275761 | http://www.orpha.net/ORDO/Orphanet_181437 |
Cholesteryl ester storage disease | http://www.orpha.net/ORDO/Orphanet_75234 | http://www.orpha.net/ORDO/Orphanet_275761 |
Rare hypolipidemia | http://www.orpha.net/ORDO/Orphanet_181431 | http://www.orpha.net/ORDO/Orphanet_101953 |
Hypobetalipoproteinemia | http://www.orpha.net/ORDO/Orphanet_31154 | http://www.orpha.net/ORDO/Orphanet_181431 |
familial apolipoprotein B hypobetalipoproteinemia | http://www.ebi.ac.uk/efo/EFO_1001789 | http://www.orpha.net/ORDO/Orphanet_31154 |
Chylomicron retention disease | http://www.orpha.net/ORDO/Orphanet_71 | http://www.orpha.net/ORDO/Orphanet_31154 |
Abetalipoproteinemia | http://www.orpha.net/ORDO/Orphanet_14 | http://www.orpha.net/ORDO/Orphanet_31154 |
Hypoalphalipoproteinemia | http://www.orpha.net/ORDO/Orphanet_31153 | http://www.orpha.net/ORDO/Orphanet_181431 |
Apolipoprotein A-I deficiency | http://www.orpha.net/ORDO/Orphanet_425 | http://www.orpha.net/ORDO/Orphanet_31153 |
Rare hyperlipidemia | http://www.orpha.net/ORDO/Orphanet_181422 | http://www.orpha.net/ORDO/Orphanet_101953 |
Laminopathy type Decaudain-Vigouroux | http://www.orpha.net/ORDO/Orphanet_137871 | http://www.orpha.net/ORDO/Orphanet_181422 |
Major hypertriglyceridemia | http://www.orpha.net/ORDO/Orphanet_181425 | http://www.orpha.net/ORDO/Orphanet_181422 |
Hyperlipoproteinemia type 1 | http://www.orpha.net/ORDO/Orphanet_411 | http://www.orpha.net/ORDO/Orphanet_181425 |
Familial apolipoprotein C-II deficiency | http://www.orpha.net/ORDO/Orphanet_309020 | http://www.orpha.net/ORDO/Orphanet_411 |
Familial lipoprotein lipase deficiency | http://www.orpha.net/ORDO/Orphanet_309015 | http://www.orpha.net/ORDO/Orphanet_411 |
Hyperlipoproteinemia type 4 | http://www.orpha.net/ORDO/Orphanet_413 | http://www.orpha.net/ORDO/Orphanet_181425 |
Hyperlipoproteinemia type 5 | http://www.orpha.net/ORDO/Orphanet_70470 | http://www.orpha.net/ORDO/Orphanet_181425 |
Hyperalphalipoproteinemia | http://www.orpha.net/ORDO/Orphanet_181428 | http://www.orpha.net/ORDO/Orphanet_181422 |
Hyperlipidemia due to hepatic triglyceride lipase deficiency | http://www.orpha.net/ORDO/Orphanet_140905 | http://www.orpha.net/ORDO/Orphanet_181428 |
Cholesterol-ester transfer protein deficiency | http://www.orpha.net/ORDO/Orphanet_79506 | http://www.orpha.net/ORDO/Orphanet_181428 |
Homozygous familial hypercholesterolemia | http://www.orpha.net/ORDO/Orphanet_391665 | http://www.orpha.net/ORDO/Orphanet_181422 |
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | http://www.orpha.net/ORDO/Orphanet_209902 | http://www.orpha.net/ORDO/Orphanet_181422 |
Combined hyperlipidemia | http://www.orpha.net/ORDO/Orphanet_79211 | http://www.orpha.net/ORDO/Orphanet_181422 |
Hyperlipoproteinemia type 3 | http://www.orpha.net/ORDO/Orphanet_412 | http://www.orpha.net/ORDO/Orphanet_79211 |
Genetic lipodystrophy | http://www.orpha.net/ORDO/Orphanet_98305 | http://www.orpha.net/ORDO/Orphanet_156638 |
Generalized congenital lipodystrophy with myopathy | http://www.orpha.net/ORDO/Orphanet_228429 | http://www.orpha.net/ORDO/Orphanet_98305 |
Severe neurodegenerative syndrome with lipodystrophy | http://www.orpha.net/ORDO/Orphanet_363400 | http://www.orpha.net/ORDO/Orphanet_98305 |
Familial partial lipodystrophy | http://www.orpha.net/ORDO/Orphanet_98306 | http://www.orpha.net/ORDO/Orphanet_98305 |
Autosomal codominant severe lipodystrophic laminopathy | http://www.orpha.net/ORDO/Orphanet_280365 | http://www.orpha.net/ORDO/Orphanet_98306 |
Familial partial lipodystrophy, Köbberling type | http://www.orpha.net/ORDO/Orphanet_79084 | http://www.orpha.net/ORDO/Orphanet_98306 |
Familial partial lipodystrophy due to AKT2 mutations | http://www.orpha.net/ORDO/Orphanet_79085 | http://www.orpha.net/ORDO/Orphanet_98306 |
Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_156156 | http://www.orpha.net/ORDO/Orphanet_98305 |
Lipodystrophy due to peptidic growth factors deficiency | http://www.orpha.net/ORDO/Orphanet_1979 | http://www.orpha.net/ORDO/Orphanet_98305 |
Genetic disorder of sex development | http://www.orpha.net/ORDO/Orphanet_325690 | http://www.orpha.net/ORDO/Orphanet_156638 |
Genetic 46,XY disorder of sex development | http://www.orpha.net/ORDO/Orphanet_325706 | http://www.orpha.net/ORDO/Orphanet_325690 |
Syndrome with 46,XY disorder of sex development | http://www.orpha.net/ORDO/Orphanet_98087 | http://www.orpha.net/ORDO/Orphanet_325706 |
Dysmorphism - short stature - deafness - disorder of sex development | http://www.orpha.net/ORDO/Orphanet_2282 | http://www.orpha.net/ORDO/Orphanet_98087 |
46,XY gonadal dysgenesis - motor and sensory neuropathy | http://www.orpha.net/ORDO/Orphanet_168563 | http://www.orpha.net/ORDO/Orphanet_98087 |
Sudden infant death - dysgenesis of the testes | http://www.orpha.net/ORDO/Orphanet_168593 | http://www.orpha.net/ORDO/Orphanet_98087 |
Disorder of sex development - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2983 | http://www.orpha.net/ORDO/Orphanet_98087 |
Familial adrenal hypoplasia with absent pituitary luteinizing hormone | http://www.orpha.net/ORDO/Orphanet_95700 | http://www.orpha.net/ORDO/Orphanet_98087 |
Campomelic dysplasia | http://www.orpha.net/ORDO/Orphanet_140 | http://www.orpha.net/ORDO/Orphanet_98087 |
Distal monosomy 9p | http://www.orpha.net/ORDO/Orphanet_1642 | http://www.orpha.net/ORDO/Orphanet_98087 |
Gonadal dysgenesis, XY type - associated anomalies | http://www.orpha.net/ORDO/Orphanet_1770 | http://www.orpha.net/ORDO/Orphanet_98087 |
Chondrodysplasia - disorder of sex development | http://www.orpha.net/ORDO/Orphanet_1422 | http://www.orpha.net/ORDO/Orphanet_98087 |
Genetic 46,XY disorder of sex development of endocrine origin | http://www.orpha.net/ORDO/Orphanet_325713 | http://www.orpha.net/ORDO/Orphanet_325706 |
Androgen insensitivity syndrome | http://www.orpha.net/ORDO/Orphanet_754 | http://www.orpha.net/ORDO/Orphanet_325713 |
Complete androgen insensitivity syndrome | http://www.orpha.net/ORDO/Orphanet_99429 | http://www.orpha.net/ORDO/Orphanet_754 |
Partial androgen insensitivity syndrome | http://www.orpha.net/ORDO/Orphanet_90797 | http://www.orpha.net/ORDO/Orphanet_754 |
46,XY disorder of sex development due to impaired androgen production | http://www.orpha.net/ORDO/Orphanet_325357 | http://www.orpha.net/ORDO/Orphanet_325713 |
46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue | http://www.orpha.net/ORDO/Orphanet_98086 | http://www.orpha.net/ORDO/Orphanet_325357 |
46,XY disorder of sex development due to testosterone synthesis defect | http://www.orpha.net/ORDO/Orphanet_90783 | http://www.orpha.net/ORDO/Orphanet_325357 |
46,XY disorder of sex development due to cholesterol synthesis defect | http://www.orpha.net/ORDO/Orphanet_325511 | http://www.orpha.net/ORDO/Orphanet_90783 |
46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect | http://www.orpha.net/ORDO/Orphanet_90786 | http://www.orpha.net/ORDO/Orphanet_90783 |
46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency | http://www.orpha.net/ORDO/Orphanet_168558 | http://www.orpha.net/ORDO/Orphanet_90786 |
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | http://www.orpha.net/ORDO/Orphanet_90793 | http://www.orpha.net/ORDO/Orphanet_90786 |
Congenital lipoid adrenal hyperplasia due to STAR deficency | http://www.orpha.net/ORDO/Orphanet_90790 | http://www.orpha.net/ORDO/Orphanet_90786 |
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency | http://www.orpha.net/ORDO/Orphanet_325529 | http://www.orpha.net/ORDO/Orphanet_90790 |
Classic congenital lipoid adrenal hyperplasia due to STAR deficency | http://www.orpha.net/ORDO/Orphanet_325524 | http://www.orpha.net/ORDO/Orphanet_90790 |
46,XY disorder of sex development due to testicular steroidogenesis defect | http://www.orpha.net/ORDO/Orphanet_90787 | http://www.orpha.net/ORDO/Orphanet_90783 |
46,XY disorder of sex development due to isolated 17,20 lyase deficiency | http://www.orpha.net/ORDO/Orphanet_90796 | http://www.orpha.net/ORDO/Orphanet_90787 |
Genetic 46,XX disorder of sex development | http://www.orpha.net/ORDO/Orphanet_325697 | http://www.orpha.net/ORDO/Orphanet_325690 |
Syndrome with 46,XX disorder of sex development | http://www.orpha.net/ORDO/Orphanet_325109 | http://www.orpha.net/ORDO/Orphanet_325697 |
Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis | http://www.orpha.net/ORDO/Orphanet_137631 | http://www.orpha.net/ORDO/Orphanet_325109 |
46,XX disorder of sex development - anorectal anomalies | http://www.orpha.net/ORDO/Orphanet_2973 | http://www.orpha.net/ORDO/Orphanet_325109 |
46,XX disorder of sex development - skeletal anomalies | http://www.orpha.net/ORDO/Orphanet_2975 | http://www.orpha.net/ORDO/Orphanet_325109 |
Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma | http://www.orpha.net/ORDO/Orphanet_85112 | http://www.orpha.net/ORDO/Orphanet_325109 |
Sex chromosome disorder of sex development | http://www.orpha.net/ORDO/Orphanet_325546 | http://www.orpha.net/ORDO/Orphanet_325690 |
Familial hyperinsulinism | http://www.orpha.net/ORDO/Orphanet_276525 | http://www.orpha.net/ORDO/Orphanet_156638 |
Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia | http://www.orpha.net/ORDO/Orphanet_276608 | http://www.orpha.net/ORDO/Orphanet_276525 |
Congenital isolated hyperinsulinism | http://www.orpha.net/ORDO/Orphanet_657 | http://www.orpha.net/ORDO/Orphanet_276525 |
Diazoxide-resistant hyperinsulinism | http://www.orpha.net/ORDO/Orphanet_276585 | http://www.orpha.net/ORDO/Orphanet_657 |
Diazoxide-resistant diffuse hyperinsulinism | http://www.orpha.net/ORDO/Orphanet_165988 | http://www.orpha.net/ORDO/Orphanet_276585 |
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | http://www.orpha.net/ORDO/Orphanet_79644 | http://www.orpha.net/ORDO/Orphanet_165988 |
Autosomal recessive hyperinsulinism due to SUR1 deficiency | http://www.orpha.net/ORDO/Orphanet_79643 | http://www.orpha.net/ORDO/Orphanet_165988 |
Diazoxide-resistant focal hyperinsulinism | http://www.orpha.net/ORDO/Orphanet_79298 | http://www.orpha.net/ORDO/Orphanet_276585 |
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency | http://www.orpha.net/ORDO/Orphanet_276598 | http://www.orpha.net/ORDO/Orphanet_79298 |
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency | http://www.orpha.net/ORDO/Orphanet_276603 | http://www.orpha.net/ORDO/Orphanet_79298 |
Diazoxide-sensitive diffuse hyperinsulinism | http://www.orpha.net/ORDO/Orphanet_165985 | http://www.orpha.net/ORDO/Orphanet_657 |
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency | http://www.orpha.net/ORDO/Orphanet_276580 | http://www.orpha.net/ORDO/Orphanet_165985 |
Hyperinsulinism due to UCP2 deficiency | http://www.orpha.net/ORDO/Orphanet_276556 | http://www.orpha.net/ORDO/Orphanet_165985 |
Autosomal dominant hyperinsulinism due to SUR1 deficiency | http://www.orpha.net/ORDO/Orphanet_276575 | http://www.orpha.net/ORDO/Orphanet_165985 |
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_71212 | http://www.orpha.net/ORDO/Orphanet_165985 |
Hyperinsulinism due to HNF4A deficiency | http://www.orpha.net/ORDO/Orphanet_263455 | http://www.orpha.net/ORDO/Orphanet_165985 |
Hyperinsulinism due to HNF1A deficiency | http://www.orpha.net/ORDO/Orphanet_324575 | http://www.orpha.net/ORDO/Orphanet_165985 |
Exercise-induced hyperinsulinism | http://www.orpha.net/ORDO/Orphanet_165991 | http://www.orpha.net/ORDO/Orphanet_165985 |
Hyperinsulinism-hyperammonemia syndrome | http://www.orpha.net/ORDO/Orphanet_35878 | http://www.orpha.net/ORDO/Orphanet_165985 |
Hyperinsulinism due to glucokinase deficiency | http://www.orpha.net/ORDO/Orphanet_79299 | http://www.orpha.net/ORDO/Orphanet_165985 |
Hyperinsulinism due to INSR deficiency | http://www.orpha.net/ORDO/Orphanet_263458 | http://www.orpha.net/ORDO/Orphanet_276525 |
Rare disorder with hypergonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_181441 | http://www.orpha.net/ORDO/Orphanet_156638 |
Hydrocephalus - obesity - hypogonadism | http://www.orpha.net/ORDO/Orphanet_2183 | http://www.orpha.net/ORDO/Orphanet_181441 |
Hypergonadotropic hypogonadism - cataract syndrome | http://www.orpha.net/ORDO/Orphanet_2410 | http://www.orpha.net/ORDO/Orphanet_181441 |
Primary hypergonadotropic hypogonadism - partial alopecia | http://www.orpha.net/ORDO/Orphanet_2232 | http://www.orpha.net/ORDO/Orphanet_181441 |
Hypogonadism - mitral valve prolapse - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2233 | http://www.orpha.net/ORDO/Orphanet_181441 |
Male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies | http://www.orpha.net/ORDO/Orphanet_2234 | http://www.orpha.net/ORDO/Orphanet_181441 |
Dilated cardiomyopathy - hypergonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_2229 | http://www.orpha.net/ORDO/Orphanet_181441 |
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_280679 | http://www.orpha.net/ORDO/Orphanet_181441 |
Proximal myotonic myopathy | http://www.orpha.net/ORDO/Orphanet_606 | http://www.orpha.net/ORDO/Orphanet_181441 |
Steinert myotonic dystrophy | http://www.orpha.net/ORDO/Orphanet_273 | http://www.orpha.net/ORDO/Orphanet_181441 |
X-linked intellectual disability, Van Esch type | http://www.orpha.net/ORDO/Orphanet_163976 | http://www.orpha.net/ORDO/Orphanet_181441 |
Deafness - hypogonadism | http://www.orpha.net/ORDO/Orphanet_90646 | http://www.orpha.net/ORDO/Orphanet_181441 |
X-linked adrenoleukodystrophy | http://www.orpha.net/ORDO/Orphanet_43 | http://www.orpha.net/ORDO/Orphanet_181441 |
Adrenomyeloneuropathy | http://www.orpha.net/ORDO/Orphanet_139399 | http://www.orpha.net/ORDO/Orphanet_43 |
Non-acquired premature ovarian failure | http://www.orpha.net/ORDO/Orphanet_95710 | http://www.orpha.net/ORDO/Orphanet_156638 |
Isolated follicle stimulating hormone deficiency | http://www.orpha.net/ORDO/Orphanet_52901 | http://www.orpha.net/ORDO/Orphanet_95710 |
Blepharophimosis - epicanthus inversus - ptosis | http://www.orpha.net/ORDO/Orphanet_126 | http://www.orpha.net/ORDO/Orphanet_95710 |
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation | http://www.orpha.net/ORDO/Orphanet_261572 | http://www.orpha.net/ORDO/Orphanet_126 |
Ataxia-telangiectasia | http://www.orpha.net/ORDO/Orphanet_100 | http://www.orpha.net/ORDO/Orphanet_95710 |
Osteosclerosis - ichthyosis - premature ovarian failure | http://www.orpha.net/ORDO/Orphanet_75325 | http://www.orpha.net/ORDO/Orphanet_95710 |
Classic galactosemia | http://www.orpha.net/ORDO/Orphanet_79239 | http://www.orpha.net/ORDO/Orphanet_95710 |
acromegaly | http://www.ebi.ac.uk/efo/EFO_1001485 | http://www.orpha.net/ORDO/Orphanet_156638 |
Hypoinsulinemic hypoglycemia and body hemihypertrophy | http://www.orpha.net/ORDO/Orphanet_293964 | http://www.orpha.net/ORDO/Orphanet_156638 |
Genetic obesity | http://www.orpha.net/ORDO/Orphanet_77828 | http://www.orpha.net/ORDO/Orphanet_156638 |
Genetic non-syndromic obesity | http://www.orpha.net/ORDO/Orphanet_98267 | http://www.orpha.net/ORDO/Orphanet_77828 |
Obesity due to congenital leptin deficiency | http://www.orpha.net/ORDO/Orphanet_66628 | http://www.orpha.net/ORDO/Orphanet_98267 |
Obesity due to SIM1 deficiency | http://www.orpha.net/ORDO/Orphanet_369873 | http://www.orpha.net/ORDO/Orphanet_98267 |
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | http://www.orpha.net/ORDO/Orphanet_329249 | http://www.orpha.net/ORDO/Orphanet_98267 |
Obesity due to MC3R deficiency | http://www.orpha.net/ORDO/Orphanet_217031 | http://www.orpha.net/ORDO/Orphanet_98267 |
Obesity due to congenital leptin resistance | http://www.orpha.net/ORDO/Orphanet_179490 | http://www.orpha.net/ORDO/Orphanet_98267 |
Obesity due to pro-opiomelanocortin deficiency | http://www.orpha.net/ORDO/Orphanet_71526 | http://www.orpha.net/ORDO/Orphanet_179490 |
Obesity due to prohormone convertase I deficiency | http://www.orpha.net/ORDO/Orphanet_71528 | http://www.orpha.net/ORDO/Orphanet_179490 |
Obesity due to melanocortin 4 receptor deficiency | http://www.orpha.net/ORDO/Orphanet_71529 | http://www.orpha.net/ORDO/Orphanet_179490 |
Obesity due to leptin receptor gene deficiency | http://www.orpha.net/ORDO/Orphanet_179494 | http://www.orpha.net/ORDO/Orphanet_179490 |
Obesity due to CEP19 deficiency | http://www.orpha.net/ORDO/Orphanet_397615 | http://www.orpha.net/ORDO/Orphanet_98267 |
Syndromic obesity | http://www.orpha.net/ORDO/Orphanet_240371 | http://www.orpha.net/ORDO/Orphanet_77828 |
Microcephalic osteodysplastic primordial dwarfism type II | http://www.orpha.net/ORDO/Orphanet_2637 | http://www.orpha.net/ORDO/Orphanet_240371 |
Albright hereditary osteodystrophy | http://www.orpha.net/ORDO/Orphanet_665 | http://www.orpha.net/ORDO/Orphanet_240371 |
Pseudohypoparathyroidism type 1C | http://www.orpha.net/ORDO/Orphanet_79444 | http://www.orpha.net/ORDO/Orphanet_665 |
Pseudopseudohypoparathyroidism | http://www.orpha.net/ORDO/Orphanet_79445 | http://www.orpha.net/ORDO/Orphanet_665 |
Intellectual disability-seizures-macrocephaly-obesity syndrome | http://www.orpha.net/ORDO/Orphanet_369950 | http://www.orpha.net/ORDO/Orphanet_240371 |
Triploidy | http://www.orpha.net/ORDO/Orphanet_3376 | http://www.orpha.net/ORDO/Orphanet_240371 |
Ulnar-mammary syndrome | http://www.orpha.net/ORDO/Orphanet_3138 | http://www.orpha.net/ORDO/Orphanet_240371 |
Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome | http://www.orpha.net/ORDO/Orphanet_293987 | http://www.orpha.net/ORDO/Orphanet_240371 |
Motor developmental delay due to 14q32.2 paternally expressed gene defect | http://www.orpha.net/ORDO/Orphanet_254516 | http://www.orpha.net/ORDO/Orphanet_240371 |
Maternal uniparental disomy of chromosome 14 | http://www.orpha.net/ORDO/Orphanet_96184 | http://www.orpha.net/ORDO/Orphanet_254516 |
Paternal 14q32.2 hypomethylation syndrome | http://www.orpha.net/ORDO/Orphanet_254531 | http://www.orpha.net/ORDO/Orphanet_254516 |
Paternal 14q32.2 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_254525 | http://www.orpha.net/ORDO/Orphanet_254516 |
Intellectual disability - obesity - brain malformations - facial dysmorphism | http://www.orpha.net/ORDO/Orphanet_352530 | http://www.orpha.net/ORDO/Orphanet_240371 |
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | http://www.orpha.net/ORDO/Orphanet_397973 | http://www.orpha.net/ORDO/Orphanet_240371 |
Choroideremia - deafness - obesity | http://www.orpha.net/ORDO/Orphanet_1435 | http://www.orpha.net/ORDO/Orphanet_240371 |
Distal 16p11.2 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_261222 | http://www.orpha.net/ORDO/Orphanet_240371 |
Rare genetic parathyroid disease and phosphocalcic metabolism disorder | http://www.orpha.net/ORDO/Orphanet_183634 | http://www.orpha.net/ORDO/Orphanet_156638 |
Genetic hypoparathyroidism | http://www.orpha.net/ORDO/Orphanet_208593 | http://www.orpha.net/ORDO/Orphanet_183634 |
Familial isolated hypoparathyroidism | http://www.orpha.net/ORDO/Orphanet_2238 | http://www.orpha.net/ORDO/Orphanet_208593 |
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | http://www.orpha.net/ORDO/Orphanet_2239 | http://www.orpha.net/ORDO/Orphanet_2238 |
Autosomal dominant hypocalcemia | http://www.orpha.net/ORDO/Orphanet_428 | http://www.orpha.net/ORDO/Orphanet_2238 |
Familial isolated hypoparathyroidism due to impaired PTH secretion | http://www.orpha.net/ORDO/Orphanet_189466 | http://www.orpha.net/ORDO/Orphanet_2238 |
Syndrome with hypoparathyroidism | http://www.orpha.net/ORDO/Orphanet_181402 | http://www.orpha.net/ORDO/Orphanet_208593 |
Hypoparathyroidism - deafness - renal disease | http://www.orpha.net/ORDO/Orphanet_2237 | http://www.orpha.net/ORDO/Orphanet_181402 |
Sanjad-Sakati syndrome | http://www.orpha.net/ORDO/Orphanet_2323 | http://www.orpha.net/ORDO/Orphanet_181402 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_5 | http://www.orpha.net/ORDO/Orphanet_181402 |
Pseudohypoparathyroidism | http://www.orpha.net/ORDO/Orphanet_97593 | http://www.orpha.net/ORDO/Orphanet_208593 |
Pseudohypoparathyroidism type 2 | http://www.orpha.net/ORDO/Orphanet_94090 | http://www.orpha.net/ORDO/Orphanet_97593 |
Pseudohypoparathyroidism type 1B | http://www.orpha.net/ORDO/Orphanet_94089 | http://www.orpha.net/ORDO/Orphanet_97593 |
Autoimmune polyendocrinopathy type 1 | http://www.orpha.net/ORDO/Orphanet_3453 | http://www.orpha.net/ORDO/Orphanet_208593 |
Genetic hyperparathyroidism | http://www.orpha.net/ORDO/Orphanet_208596 | http://www.orpha.net/ORDO/Orphanet_183634 |
Familial primary hyperparathyroidism | http://www.orpha.net/ORDO/Orphanet_2207 | http://www.orpha.net/ORDO/Orphanet_208596 |
Familial isolated hyperparathyroidism | http://www.orpha.net/ORDO/Orphanet_99879 | http://www.orpha.net/ORDO/Orphanet_2207 |
Primary parathyroids hyperplasia | http://www.orpha.net/ORDO/Orphanet_99878 | http://www.orpha.net/ORDO/Orphanet_2207 |
Hyperparathyroidism-jaw tumor syndrome | http://www.orpha.net/ORDO/Orphanet_99880 | http://www.orpha.net/ORDO/Orphanet_2207 |
Neonatal severe primary hyperparathyroidism | http://www.orpha.net/ORDO/Orphanet_417 | http://www.orpha.net/ORDO/Orphanet_208596 |
Disorders of vitamin D metabolism | http://www.orpha.net/ORDO/Orphanet_289098 | http://www.orpha.net/ORDO/Orphanet_183634 |
Hypocalcemic rickets | http://www.orpha.net/ORDO/Orphanet_289103 | http://www.orpha.net/ORDO/Orphanet_289098 |
Hypocalcemic vitamin D-dependent rickets | http://www.orpha.net/ORDO/Orphanet_289157 | http://www.orpha.net/ORDO/Orphanet_289103 |
Hypocalcemic vitamin D-resistant rickets | http://www.orpha.net/ORDO/Orphanet_93160 | http://www.orpha.net/ORDO/Orphanet_289103 |
Hypophosphatemic rickets | http://www.orpha.net/ORDO/Orphanet_437 | http://www.orpha.net/ORDO/Orphanet_289098 |
Hereditary hypophosphatemic rickets with hypercalciuria | http://www.orpha.net/ORDO/Orphanet_157215 | http://www.orpha.net/ORDO/Orphanet_437 |
Autosomal recessive hypophosphatemic rickets | http://www.orpha.net/ORDO/Orphanet_289176 | http://www.orpha.net/ORDO/Orphanet_437 |
X-linked hypophosphatemia | http://www.orpha.net/ORDO/Orphanet_89936 | http://www.orpha.net/ORDO/Orphanet_437 |
Autosomal dominant hypophosphatemic rickets | http://www.orpha.net/ORDO/Orphanet_89937 | http://www.orpha.net/ORDO/Orphanet_437 |
Familial hypocalciuric hypercalcemia | http://www.orpha.net/ORDO/Orphanet_405 | http://www.orpha.net/ORDO/Orphanet_183634 |
Familial hypocalciuric hypercalcemia type 2 | http://www.orpha.net/ORDO/Orphanet_101049 | http://www.orpha.net/ORDO/Orphanet_405 |
Familial hypocalciuric hypercalcemia type 3 | http://www.orpha.net/ORDO/Orphanet_101050 | http://www.orpha.net/ORDO/Orphanet_405 |
Familial hypocalciuric hypercalcemia type 1 | http://www.orpha.net/ORDO/Orphanet_93372 | http://www.orpha.net/ORDO/Orphanet_405 |
Autosomal recessive infantile hypercalcemia | http://www.orpha.net/ORDO/Orphanet_300547 | http://www.orpha.net/ORDO/Orphanet_183634 |
Rare genetic adrenal disease | http://www.orpha.net/ORDO/Orphanet_183637 | http://www.orpha.net/ORDO/Orphanet_156638 |
Genetic chronic primary adrenal insufficiency | http://www.orpha.net/ORDO/Orphanet_101960 | http://www.orpha.net/ORDO/Orphanet_183637 |
Adrenomyodystrophy | http://www.orpha.net/ORDO/Orphanet_977 | http://www.orpha.net/ORDO/Orphanet_101960 |
Cytomegalic congenital adrenal hypoplasia | http://www.orpha.net/ORDO/Orphanet_95702 | http://www.orpha.net/ORDO/Orphanet_101960 |
Congenital adrenal hyperplasia | http://www.orpha.net/ORDO/Orphanet_418 | http://www.orpha.net/ORDO/Orphanet_101960 |
Familial glucocorticoid deficiency | http://www.orpha.net/ORDO/Orphanet_361 | http://www.orpha.net/ORDO/Orphanet_101960 |
Adrenogenital syndrome | http://www.orpha.net/ORDO/Orphanet_181412 | http://www.orpha.net/ORDO/Orphanet_183637 |
Hyperandrogenism due to cortisone reductase deficiency | http://www.orpha.net/ORDO/Orphanet_168588 | http://www.orpha.net/ORDO/Orphanet_181412 |
Pseudoleprechaunism syndrome, Patterson type | http://www.orpha.net/ORDO/Orphanet_2976 | http://www.orpha.net/ORDO/Orphanet_183637 |
Familial hypoaldosteronism | http://www.orpha.net/ORDO/Orphanet_427 | http://www.orpha.net/ORDO/Orphanet_183637 |
Familial hyperreninemic hypoaldosteronism type 1 | http://www.orpha.net/ORDO/Orphanet_99763 | http://www.orpha.net/ORDO/Orphanet_427 |
Familial hyperreninemic hypoaldosteronism type 2 | http://www.orpha.net/ORDO/Orphanet_99764 | http://www.orpha.net/ORDO/Orphanet_427 |
Apparent mineralocorticoid excess | http://www.orpha.net/ORDO/Orphanet_320 | http://www.orpha.net/ORDO/Orphanet_183637 |
Corticosteroid-binding globulin deficiency | http://www.orpha.net/ORDO/Orphanet_199247 | http://www.orpha.net/ORDO/Orphanet_183637 |
Primary pigmented nodular adrenocortical disease | http://www.orpha.net/ORDO/Orphanet_189439 | http://www.orpha.net/ORDO/Orphanet_183637 |
Rare genetic thyroid disease | http://www.orpha.net/ORDO/Orphanet_183631 | http://www.orpha.net/ORDO/Orphanet_156638 |
Familial multinodular goiter | http://www.orpha.net/ORDO/Orphanet_276399 | http://www.orpha.net/ORDO/Orphanet_183631 |
Rare hypothyroidism | http://www.orpha.net/ORDO/Orphanet_181396 | http://www.orpha.net/ORDO/Orphanet_183631 |
Congenital hypothyroidism | http://www.orpha.net/ORDO/Orphanet_442 | http://www.orpha.net/ORDO/Orphanet_181396 |
Genetic transient congenital hypothyroidism | http://www.orpha.net/ORDO/Orphanet_226316 | http://www.orpha.net/ORDO/Orphanet_442 |
Permanent congenital hypothyroidism | http://www.orpha.net/ORDO/Orphanet_226292 | http://www.orpha.net/ORDO/Orphanet_442 |
Syndromic hypothyroidism | http://www.orpha.net/ORDO/Orphanet_177107 | http://www.orpha.net/ORDO/Orphanet_226292 |
Muscular pseudohypertrophy - hypothyroidism | http://www.orpha.net/ORDO/Orphanet_2349 | http://www.orpha.net/ORDO/Orphanet_177107 |
Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay | http://www.orpha.net/ORDO/Orphanet_88643 | http://www.orpha.net/ORDO/Orphanet_177107 |
Brain-lung-thyroid syndrome | http://www.orpha.net/ORDO/Orphanet_209905 | http://www.orpha.net/ORDO/Orphanet_177107 |
Blepharophimosis-intellectual disability syndrome, SBBYS type | http://www.orpha.net/ORDO/Orphanet_3047 | http://www.orpha.net/ORDO/Orphanet_177107 |
Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia | http://www.orpha.net/ORDO/Orphanet_1882 | http://www.orpha.net/ORDO/Orphanet_177107 |
Peripheral hypothyroidism | http://www.orpha.net/ORDO/Orphanet_226310 | http://www.orpha.net/ORDO/Orphanet_226292 |
Peripheral resistance to thyroid hormones | http://www.orpha.net/ORDO/Orphanet_97927 | http://www.orpha.net/ORDO/Orphanet_226310 |
Short stature-delayed bone age due to thyroid hormone metabolism deficiency | http://www.orpha.net/ORDO/Orphanet_171706 | http://www.orpha.net/ORDO/Orphanet_226310 |
Primary congenital hypothyroidism | http://www.orpha.net/ORDO/Orphanet_226295 | http://www.orpha.net/ORDO/Orphanet_226292 |
Primary congenital hypothyroidism without thyroid developmental anomaly | http://www.orpha.net/ORDO/Orphanet_95714 | http://www.orpha.net/ORDO/Orphanet_226295 |
Familial thyroid dyshormonogenesis | http://www.orpha.net/ORDO/Orphanet_95716 | http://www.orpha.net/ORDO/Orphanet_95714 |
Hypothyroidism due to TSH receptor mutations | http://www.orpha.net/ORDO/Orphanet_90673 | http://www.orpha.net/ORDO/Orphanet_95714 |
Congenital hypothyroidism due to developmental anomaly | http://www.orpha.net/ORDO/Orphanet_95711 | http://www.orpha.net/ORDO/Orphanet_226295 |
Athyreosis | http://www.orpha.net/ORDO/Orphanet_95713 | http://www.orpha.net/ORDO/Orphanet_95711 |
Thyroid ectopia | http://www.orpha.net/ORDO/Orphanet_95712 | http://www.orpha.net/ORDO/Orphanet_95711 |
Thyroid hemiagenesis | http://www.orpha.net/ORDO/Orphanet_95719 | http://www.orpha.net/ORDO/Orphanet_95711 |
Thyroid hypoplasia | http://www.orpha.net/ORDO/Orphanet_95720 | http://www.orpha.net/ORDO/Orphanet_95711 |
Central congenital hypothyroidism | http://www.orpha.net/ORDO/Orphanet_226298 | http://www.orpha.net/ORDO/Orphanet_226292 |
Isolated thyroid-stimulating hormone deficiency | http://www.orpha.net/ORDO/Orphanet_90674 | http://www.orpha.net/ORDO/Orphanet_226298 |
Resistance to thyrotropin-releasing hormone syndrome | http://www.orpha.net/ORDO/Orphanet_99832 | http://www.orpha.net/ORDO/Orphanet_226298 |
Isolated thyrotropin-releasing hormone deficiency | http://www.orpha.net/ORDO/Orphanet_238670 | http://www.orpha.net/ORDO/Orphanet_226298 |
Hypothyroidism due to deficient transcription factors involved in pituitary development or function | http://www.orpha.net/ORDO/Orphanet_226307 | http://www.orpha.net/ORDO/Orphanet_226298 |
Rare hyperthyroidism | http://www.orpha.net/ORDO/Orphanet_181399 | http://www.orpha.net/ORDO/Orphanet_183631 |
Familial hyperthyroidism due to mutations in TSH receptor | http://www.orpha.net/ORDO/Orphanet_424 | http://www.orpha.net/ORDO/Orphanet_181399 |
Generalized resistance to thyroid hormone | http://www.orpha.net/ORDO/Orphanet_3221 | http://www.orpha.net/ORDO/Orphanet_181399 |
Familial gestational hyperthyroidism | http://www.orpha.net/ORDO/Orphanet_99819 | http://www.orpha.net/ORDO/Orphanet_181399 |
Selective pituitary resistance to thyroid hormone | http://www.orpha.net/ORDO/Orphanet_165994 | http://www.orpha.net/ORDO/Orphanet_181399 |
Congenital isolated thyroxine-binding globulin deficiency | http://www.orpha.net/ORDO/Orphanet_209893 | http://www.orpha.net/ORDO/Orphanet_183631 |
Rare genetic diabetes mellitus | http://www.orpha.net/ORDO/Orphanet_183625 | http://www.orpha.net/ORDO/Orphanet_156638 |
Thiamine-responsive megaloblastic anemia syndrome | http://www.orpha.net/ORDO/Orphanet_49827 | http://www.orpha.net/ORDO/Orphanet_183625 |
Myopathy and diabetes mellitus | http://www.orpha.net/ORDO/Orphanet_2596 | http://www.orpha.net/ORDO/Orphanet_183625 |
Pancreatic hypoplasia - diabetes - congenital heart disease | http://www.orpha.net/ORDO/Orphanet_2255 | http://www.orpha.net/ORDO/Orphanet_183625 |
Rare insulin-resistance syndrome | http://www.orpha.net/ORDO/Orphanet_181368 | http://www.orpha.net/ORDO/Orphanet_183625 |
Insulin-resistance syndrome type A | http://www.orpha.net/ORDO/Orphanet_2297 | http://www.orpha.net/ORDO/Orphanet_181368 |
Insulin-resistance syndrome type B | http://www.orpha.net/ORDO/Orphanet_2298 | http://www.orpha.net/ORDO/Orphanet_181368 |
Short fifth metacarpals - insulin resistance | http://www.orpha.net/ORDO/Orphanet_66518 | http://www.orpha.net/ORDO/Orphanet_181368 |
Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement | http://www.orpha.net/ORDO/Orphanet_90301 | http://www.orpha.net/ORDO/Orphanet_181368 |
Renal cysts and diabetes syndrome | http://www.orpha.net/ORDO/Orphanet_93111 | http://www.orpha.net/ORDO/Orphanet_183625 |
Hereditary chronic pancreatitis | http://www.orpha.net/ORDO/Orphanet_676 | http://www.orpha.net/ORDO/Orphanet_183625 |
MODY | http://www.orpha.net/ORDO/Orphanet_552 | http://www.orpha.net/ORDO/Orphanet_183625 |
Neonatal diabetes mellitus | http://www.orpha.net/ORDO/Orphanet_224 | http://www.orpha.net/ORDO/Orphanet_183625 |
Transient neonatal diabetes mellitus | http://www.orpha.net/ORDO/Orphanet_99886 | http://www.orpha.net/ORDO/Orphanet_224 |
transient neonatal diabetes, dominant/recessive | http://www.ebi.ac.uk/efo/EFO_0020040 | http://www.orpha.net/ORDO/Orphanet_99886 |
autosomal recessive transient neonatal diabetes mellitus | http://www.ebi.ac.uk/efo/EFO_0020032 | http://www.ebi.ac.uk/efo/EFO_0020040 |
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis | http://www.orpha.net/ORDO/Orphanet_65288 | http://www.orpha.net/ORDO/Orphanet_224 |
Maternally-inherited diabetes and deafness | http://www.orpha.net/ORDO/Orphanet_225 | http://www.orpha.net/ORDO/Orphanet_183625 |
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | http://www.orpha.net/ORDO/Orphanet_391408 | http://www.orpha.net/ORDO/Orphanet_183625 |
Pancreatic beta cell agenesis with neonatal diabetes mellitus | http://www.orpha.net/ORDO/Orphanet_28455 | http://www.orpha.net/ORDO/Orphanet_183625 |
Rare genetic hypothalamic or pituitary disease | http://www.orpha.net/ORDO/Orphanet_183628 | http://www.orpha.net/ORDO/Orphanet_156638 |
Pituitary deficiency | http://www.orpha.net/ORDO/Orphanet_101957 | http://www.orpha.net/ORDO/Orphanet_183628 |
Hereditary central diabetes insipidus | http://www.orpha.net/ORDO/Orphanet_30925 | http://www.orpha.net/ORDO/Orphanet_101957 |
Non-acquired pituitary hormone deficiency | http://www.orpha.net/ORDO/Orphanet_95488 | http://www.orpha.net/ORDO/Orphanet_101957 |
Congenital hypogonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_174590 | http://www.orpha.net/ORDO/Orphanet_95488 |
Hypogonadotropic hypogonadism associated with other endocrinopathies | http://www.orpha.net/ORDO/Orphanet_181390 | http://www.orpha.net/ORDO/Orphanet_174590 |
Combined pituitary hormone deficiencies, genetic forms | http://www.orpha.net/ORDO/Orphanet_95494 | http://www.orpha.net/ORDO/Orphanet_181390 |
autosominal recessive combined pituitary hormone deficiency | http://www.ebi.ac.uk/efo/EFO_0020037 | http://www.orpha.net/ORDO/Orphanet_95494 |
Panhypopituitarism | http://www.orpha.net/ORDO/Orphanet_90695 | http://www.orpha.net/ORDO/Orphanet_181390 |
Rare disorder with hypogonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_181387 | http://www.orpha.net/ORDO/Orphanet_174590 |
Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_2560 | http://www.orpha.net/ORDO/Orphanet_181387 |
Hypogonadotropic hypogonadism - retinitis pigmentosa | http://www.orpha.net/ORDO/Orphanet_2235 | http://www.orpha.net/ORDO/Orphanet_181387 |
Hypogonadotropic hypogonadism - frontoparietal alopecia | http://www.orpha.net/ORDO/Orphanet_2230 | http://www.orpha.net/ORDO/Orphanet_181387 |
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_2250 | http://www.orpha.net/ORDO/Orphanet_181387 |
Kallmann syndrome - heart disease | http://www.orpha.net/ORDO/Orphanet_2326 | http://www.orpha.net/ORDO/Orphanet_181387 |
Hypomyelination - hypogonadotropic hypogonadism - hypodontia | http://www.orpha.net/ORDO/Orphanet_88637 | http://www.orpha.net/ORDO/Orphanet_181387 |
Sickle cell anemia | http://www.orpha.net/ORDO/Orphanet_232 | http://www.orpha.net/ORDO/Orphanet_181387 |
Cerebellar ataxia - hypogonadism | http://www.orpha.net/ORDO/Orphanet_1173 | http://www.orpha.net/ORDO/Orphanet_181387 |
Ataxia - hypogonadism - choroidal dystrophy | http://www.orpha.net/ORDO/Orphanet_1180 | http://www.orpha.net/ORDO/Orphanet_181387 |
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome | http://www.orpha.net/ORDO/Orphanet_293967 | http://www.orpha.net/ORDO/Orphanet_181387 |
Cataract - intellectual disability - hypogonadism | http://www.orpha.net/ORDO/Orphanet_1387 | http://www.orpha.net/ORDO/Orphanet_181387 |
Isolated congenital hypogonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_238666 | http://www.orpha.net/ORDO/Orphanet_174590 |
Short stature due to GHSR deficiency | http://www.orpha.net/ORDO/Orphanet_314811 | http://www.orpha.net/ORDO/Orphanet_95488 |
Non-acquired isolated growth hormone deficiency | http://www.orpha.net/ORDO/Orphanet_631 | http://www.orpha.net/ORDO/Orphanet_95488 |
Isolated growth hormone deficiency type III | http://www.orpha.net/ORDO/Orphanet_231692 | http://www.orpha.net/ORDO/Orphanet_631 |
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | http://www.orpha.net/ORDO/Orphanet_632 | http://www.orpha.net/ORDO/Orphanet_231692 |
Isolated growth hormone deficiency type IB | http://www.orpha.net/ORDO/Orphanet_231671 | http://www.orpha.net/ORDO/Orphanet_631 |
Isolated growth hormone deficiency type II | http://www.orpha.net/ORDO/Orphanet_231679 | http://www.orpha.net/ORDO/Orphanet_631 |
Isolated growth hormone deficiency type IA | http://www.orpha.net/ORDO/Orphanet_231662 | http://www.orpha.net/ORDO/Orphanet_631 |
Short stature due to growth hormone qualitative anomaly | http://www.orpha.net/ORDO/Orphanet_629 | http://www.orpha.net/ORDO/Orphanet_631 |
Non-acquired combined pituitary hormone deficiency | http://www.orpha.net/ORDO/Orphanet_467 | http://www.orpha.net/ORDO/Orphanet_95488 |
Non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations | http://www.orpha.net/ORDO/Orphanet_178025 | http://www.orpha.net/ORDO/Orphanet_467 |
Disease associated with non-acquired combined pituitary hormone deficiency | http://www.orpha.net/ORDO/Orphanet_95495 | http://www.orpha.net/ORDO/Orphanet_467 |
Holoprosencephaly | http://www.orpha.net/ORDO/Orphanet_2162 | http://www.orpha.net/ORDO/Orphanet_95495 |
Microform holoprosencephaly | http://www.orpha.net/ORDO/Orphanet_280200 | http://www.orpha.net/ORDO/Orphanet_2162 |
Solitary median maxillary central incisor syndrome | http://www.orpha.net/ORDO/Orphanet_2286 | http://www.orpha.net/ORDO/Orphanet_280200 |
Alobar holoprosencephaly | http://www.orpha.net/ORDO/Orphanet_93925 | http://www.orpha.net/ORDO/Orphanet_2162 |
Midline interhemispheric variant of holoprosencephaly | http://www.orpha.net/ORDO/Orphanet_93926 | http://www.orpha.net/ORDO/Orphanet_2162 |
Lobar holoprosencephaly | http://www.orpha.net/ORDO/Orphanet_93924 | http://www.orpha.net/ORDO/Orphanet_2162 |
Septopreoptic holoprosencephaly | http://www.orpha.net/ORDO/Orphanet_280195 | http://www.orpha.net/ORDO/Orphanet_93924 |
Semilobar holoprosencephaly | http://www.orpha.net/ORDO/Orphanet_220386 | http://www.orpha.net/ORDO/Orphanet_2162 |
Non-acquired combined pituitary hormone deficiency with spine abnormalities | http://www.orpha.net/ORDO/Orphanet_231720 | http://www.orpha.net/ORDO/Orphanet_95495 |
Short stature - pituitary and cerebellar defects - small sella turcica | http://www.orpha.net/ORDO/Orphanet_85442 | http://www.orpha.net/ORDO/Orphanet_95495 |
Deficiency in anterior pituitary function-variable immunodeficiency syndrome | http://www.orpha.net/ORDO/Orphanet_293978 | http://www.orpha.net/ORDO/Orphanet_95495 |
Pituitary stalk interruption syndrome | http://www.orpha.net/ORDO/Orphanet_95496 | http://www.orpha.net/ORDO/Orphanet_95488 |
Growth hormone insensitivity syndrome | http://www.orpha.net/ORDO/Orphanet_181393 | http://www.orpha.net/ORDO/Orphanet_183628 |
Short stature due to primary acid-labile subunit deficiency | http://www.orpha.net/ORDO/Orphanet_140941 | http://www.orpha.net/ORDO/Orphanet_181393 |
Short stature due to partial GHR deficiency | http://www.orpha.net/ORDO/Orphanet_314802 | http://www.orpha.net/ORDO/Orphanet_181393 |
Growth delay due to insulin-like growth factor type 1 deficiency | http://www.orpha.net/ORDO/Orphanet_73272 | http://www.orpha.net/ORDO/Orphanet_181393 |
Growth delay due to insulin-like growth factor I resistance | http://www.orpha.net/ORDO/Orphanet_73273 | http://www.orpha.net/ORDO/Orphanet_181393 |
Familial infantile gigantism | http://www.orpha.net/ORDO/Orphanet_300373 | http://www.orpha.net/ORDO/Orphanet_183628 |
Familial hyperprolactinemia | http://www.orpha.net/ORDO/Orphanet_397685 | http://www.orpha.net/ORDO/Orphanet_183628 |
Genetic polyendocrinopathy | http://www.orpha.net/ORDO/Orphanet_183643 | http://www.orpha.net/ORDO/Orphanet_156638 |
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | http://www.orpha.net/ORDO/Orphanet_37042 | http://www.orpha.net/ORDO/Orphanet_183643 |
Acrodysostosis with multiple hormone resistance | http://www.orpha.net/ORDO/Orphanet_280651 | http://www.orpha.net/ORDO/Orphanet_183643 |
Neuroectodermal-endocrine syndrome | http://www.orpha.net/ORDO/Orphanet_2676 | http://www.orpha.net/ORDO/Orphanet_183643 |
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | http://www.orpha.net/ORDO/Orphanet_391487 | http://www.orpha.net/ORDO/Orphanet_183643 |
Retinohepatoendocrinologic syndrome | http://www.orpha.net/ORDO/Orphanet_3087 | http://www.orpha.net/ORDO/Orphanet_183643 |
polyendocrinopathy | http://purl.obolibrary.org/obo/MONDO_0015126 | http://www.ebi.ac.uk/efo/EFO_0001379 |
multiple polyglandular tumor | http://purl.obolibrary.org/obo/MONDO_0015079 | http://purl.obolibrary.org/obo/MONDO_0015126 |
Carney-Stratakis syndrome | http://purl.obolibrary.org/obo/MONDO_0011740 | http://purl.obolibrary.org/obo/MONDO_0015079 |
Multiple endocrine neoplasia | http://www.orpha.net/ORDO/Orphanet_276161 | http://purl.obolibrary.org/obo/MONDO_0015079 |
Multiple endocrine neoplasia type 4 | http://www.orpha.net/ORDO/Orphanet_276152 | http://www.orpha.net/ORDO/Orphanet_276161 |
Von Hippel-Lindau disease | http://www.orpha.net/ORDO/Orphanet_892 | http://purl.obolibrary.org/obo/MONDO_0015079 |
retinohepatoendocrinologic syndrome | http://purl.obolibrary.org/obo/MONDO_0009985 | http://purl.obolibrary.org/obo/MONDO_0015126 |
autoimmune polyendocrinopathy | http://purl.obolibrary.org/obo/MONDO_0017278 | http://purl.obolibrary.org/obo/MONDO_0015126 |
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | http://purl.obolibrary.org/obo/MONDO_0013599 | http://purl.obolibrary.org/obo/MONDO_0017278 |
autoimmune polyendocrine syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0009411 | http://purl.obolibrary.org/obo/MONDO_0017278 |
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | http://purl.obolibrary.org/obo/MONDO_0010580 | http://purl.obolibrary.org/obo/MONDO_0017278 |
Bangstad syndrome | http://purl.obolibrary.org/obo/MONDO_0008874 | http://purl.obolibrary.org/obo/MONDO_0015126 |
pituitary deficiency | http://purl.obolibrary.org/obo/MONDO_0015127 | http://www.ebi.ac.uk/efo/EFO_0001379 |
neurohypophyseal diabetes insipidus | http://purl.obolibrary.org/obo/MONDO_0007450 | http://purl.obolibrary.org/obo/MONDO_0015127 |
acquired central diabetes insipidus | http://purl.obolibrary.org/obo/MONDO_0019846 | http://purl.obolibrary.org/obo/MONDO_0015127 |
pituitary hormone deficiency secondary to storage disease | http://purl.obolibrary.org/obo/MONDO_0019844 | http://purl.obolibrary.org/obo/MONDO_0015127 |
beta thalassemia | http://purl.obolibrary.org/obo/MONDO_0019402 | http://purl.obolibrary.org/obo/MONDO_0019844 |
dominant beta-thalassemia | http://purl.obolibrary.org/obo/MONDO_0011381 | http://purl.obolibrary.org/obo/MONDO_0019402 |
beta-thalassemia HBB/LCRB | http://purl.obolibrary.org/obo/MONDO_0013517 | http://purl.obolibrary.org/obo/MONDO_0019402 |
beta-thalassemia intermedia | http://purl.obolibrary.org/obo/MONDO_0016487 | http://purl.obolibrary.org/obo/MONDO_0013517 |
beta-thalassemia major | http://purl.obolibrary.org/obo/MONDO_0016486 | http://purl.obolibrary.org/obo/MONDO_0013517 |
acquired pituitary hormone deficiency | http://purl.obolibrary.org/obo/MONDO_0019832 | http://purl.obolibrary.org/obo/MONDO_0015127 |
pituitary apoplexy | http://www.ebi.ac.uk/efo/EFO_1001108 | http://purl.obolibrary.org/obo/MONDO_0019832 |
pituitary hormone deficiency secondary to a granulomatous disease | http://purl.obolibrary.org/obo/MONDO_0019843 | http://purl.obolibrary.org/obo/MONDO_0019832 |
pituitary hormone deficiency from tumoral origin | http://purl.obolibrary.org/obo/MONDO_0019833 | http://purl.obolibrary.org/obo/MONDO_0019832 |
pituitary hormone deficiency from meningeal origin | http://purl.obolibrary.org/obo/MONDO_0019834 | http://purl.obolibrary.org/obo/MONDO_0019832 |
thymus gland disorder | http://purl.obolibrary.org/obo/MONDO_0003393 | http://www.ebi.ac.uk/efo/EFO_0001379 |
liver disease | http://www.ebi.ac.uk/efo/EFO_0001421 | http://www.ebi.ac.uk/efo/EFO_0001379 |
sclerosing cholangitis | http://www.ebi.ac.uk/efo/EFO_0004268 | http://www.ebi.ac.uk/efo/EFO_0001421 |
neonatal ichthyosis-sclerosing cholangitis syndrome | http://purl.obolibrary.org/obo/MONDO_0011874 | http://www.ebi.ac.uk/efo/EFO_0004268 |
drug-induced liver injury | http://www.ebi.ac.uk/efo/EFO_0004228 | http://www.ebi.ac.uk/efo/EFO_0001421 |
viral human hepatitis infection | http://www.ebi.ac.uk/efo/EFO_0004196 | http://www.ebi.ac.uk/efo/EFO_0001421 |
hepatitis B virus infection | http://www.ebi.ac.uk/efo/EFO_0004197 | http://www.ebi.ac.uk/efo/EFO_0004196 |
chronic hepatitis B virus infection | http://www.ebi.ac.uk/efo/EFO_0004239 | http://www.ebi.ac.uk/efo/EFO_0004197 |
hepatitis C virus infection | http://www.ebi.ac.uk/efo/EFO_0003047 | http://www.ebi.ac.uk/efo/EFO_0004196 |
chronic hepatitis C virus infection | http://www.ebi.ac.uk/efo/EFO_0004220 | http://www.ebi.ac.uk/efo/EFO_0003047 |
hepatitis D virus infection | http://www.ebi.ac.uk/efo/EFO_0007304 | http://www.ebi.ac.uk/efo/EFO_0004196 |
hepatitis A virus infection | http://www.ebi.ac.uk/efo/EFO_0007305 | http://www.ebi.ac.uk/efo/EFO_0004196 |
hepatitis E virus infection | http://www.ebi.ac.uk/efo/EFO_0007303 | http://www.ebi.ac.uk/efo/EFO_0004196 |
Hepatopulmonary Syndrome | http://www.ebi.ac.uk/efo/EFO_1001346 | http://www.ebi.ac.uk/efo/EFO_0001421 |
End Stage Liver Disease | http://www.ebi.ac.uk/efo/EFO_1001311 | http://www.ebi.ac.uk/efo/EFO_0001421 |
genetic parenchymatous liver disease | http://purl.obolibrary.org/obo/MONDO_0015508 | http://www.ebi.ac.uk/efo/EFO_0001421 |
transient infantile hypertriglyceridemia and hepatosteatosis | http://purl.obolibrary.org/obo/MONDO_0013771 | http://purl.obolibrary.org/obo/MONDO_0015508 |
trichohepatoenteric syndrome | http://purl.obolibrary.org/obo/MONDO_0009105 | http://purl.obolibrary.org/obo/MONDO_0015508 |
infantile liver failure | http://purl.obolibrary.org/obo/MONDO_0000023 | http://purl.obolibrary.org/obo/MONDO_0015508 |
infantile liver failure syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0024568 | http://purl.obolibrary.org/obo/MONDO_0000023 |
infantile liver failure syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0014659 | http://purl.obolibrary.org/obo/MONDO_0000023 |
ferro-cerebro-cutaneous syndrome | http://purl.obolibrary.org/obo/MONDO_0018346 | http://purl.obolibrary.org/obo/MONDO_0015508 |
growth retardation-mild developmental delay-chronic hepatitis syndrome | http://purl.obolibrary.org/obo/MONDO_0018317 | http://purl.obolibrary.org/obo/MONDO_0015508 |
hepatic fibrosis-renal cysts-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0008941 | http://purl.obolibrary.org/obo/MONDO_0015508 |
genetic biliary tract disease | http://purl.obolibrary.org/obo/MONDO_0015509 | http://www.ebi.ac.uk/efo/EFO_0001421 |
polycystic liver disease 1 | http://purl.obolibrary.org/obo/MONDO_0008265 | http://purl.obolibrary.org/obo/MONDO_0015509 |
Genetic biliary tract disease | http://www.orpha.net/ORDO/Orphanet_156607 | http://purl.obolibrary.org/obo/MONDO_0015509 |
Low phospholipid associated cholelithiasis | http://www.orpha.net/ORDO/Orphanet_69663 | http://www.orpha.net/ORDO/Orphanet_156607 |
low phospholipid associated cholelithiasis | http://purl.obolibrary.org/obo/MONDO_0010939 | http://purl.obolibrary.org/obo/MONDO_0015509 |
Familial intrahepatic cholestasis | http://www.orpha.net/ORDO/Orphanet_284385 | http://purl.obolibrary.org/obo/MONDO_0015509 |
Progressive familial intrahepatic cholestasis | http://www.orpha.net/ORDO/Orphanet_172 | http://www.orpha.net/ORDO/Orphanet_284385 |
Progressive familial intrahepatic cholestasis type 2 | http://www.orpha.net/ORDO/Orphanet_79304 | http://www.orpha.net/ORDO/Orphanet_172 |
Progressive familial intrahepatic cholestasis type 3 | http://www.orpha.net/ORDO/Orphanet_79305 | http://www.orpha.net/ORDO/Orphanet_172 |
Progressive familial intrahepatic cholestasis type 1 | http://www.orpha.net/ORDO/Orphanet_79306 | http://www.orpha.net/ORDO/Orphanet_172 |
Bile acid synthesis defect with cholestasis and malabsorption | http://www.orpha.net/ORDO/Orphanet_163631 | http://www.orpha.net/ORDO/Orphanet_284385 |
Bile acid CoA ligase deficiency and defective amidation | http://www.orpha.net/ORDO/Orphanet_276066 | http://www.orpha.net/ORDO/Orphanet_163631 |
Congenital bile acid synthesis defect | http://www.ebi.ac.uk/efo/EFO_0009039 | http://www.orpha.net/ORDO/Orphanet_163631 |
congenital bile acid synthesis defect 1 | http://purl.obolibrary.org/obo/MONDO_0011906 | http://www.ebi.ac.uk/efo/EFO_0009039 |
congenital bile acid synthesis defect 3 | http://purl.obolibrary.org/obo/MONDO_0013439 | http://www.ebi.ac.uk/efo/EFO_0009039 |
congenital bile acid synthesis defect 2 | http://purl.obolibrary.org/obo/MONDO_0009339 | http://www.ebi.ac.uk/efo/EFO_0009039 |
congenital bile acid synthesis defect 5 | http://purl.obolibrary.org/obo/MONDO_0014564 | http://www.ebi.ac.uk/efo/EFO_0009039 |
congenital bile acid synthesis defect 4 | http://purl.obolibrary.org/obo/MONDO_0008967 | http://www.ebi.ac.uk/efo/EFO_0009039 |
Congenital bile acid synthesis defect type 2 | http://www.orpha.net/ORDO/Orphanet_79303 | http://www.ebi.ac.uk/efo/EFO_0009039 |
Congenital bile acid synthesis defect type 1 | http://www.orpha.net/ORDO/Orphanet_79301 | http://www.ebi.ac.uk/efo/EFO_0009039 |
Congenital bile acid synthesis defect type 3 | http://www.orpha.net/ORDO/Orphanet_79302 | http://www.ebi.ac.uk/efo/EFO_0009039 |
Congenital bile acid synthesis defect type 4 | http://www.orpha.net/ORDO/Orphanet_79095 | http://www.ebi.ac.uk/efo/EFO_0009039 |
Benign recurrent intrahepatic cholestasis | http://www.orpha.net/ORDO/Orphanet_65682 | http://www.orpha.net/ORDO/Orphanet_284385 |
Benign recurrent intrahepatic cholestasis type 2 | http://www.orpha.net/ORDO/Orphanet_99961 | http://www.orpha.net/ORDO/Orphanet_65682 |
Benign recurrent intrahepatic cholestasis type 1 | http://www.orpha.net/ORDO/Orphanet_99960 | http://www.orpha.net/ORDO/Orphanet_65682 |
cholestasis, intrahepatic, of pregnancy 3 | http://www.ebi.ac.uk/efo/EFO_0009150 | http://www.orpha.net/ORDO/Orphanet_284385 |
familial intrahepatic cholestasis | http://purl.obolibrary.org/obo/MONDO_0017290 | http://purl.obolibrary.org/obo/MONDO_0015509 |
progressive familial intrahepatic cholestasis | http://purl.obolibrary.org/obo/MONDO_0015762 | http://purl.obolibrary.org/obo/MONDO_0017290 |
progressive familial intrahepatic cholestasis type 2 | http://purl.obolibrary.org/obo/MONDO_0011156 | http://purl.obolibrary.org/obo/MONDO_0015762 |
progressive familial intrahepatic cholestasis type 3 | http://purl.obolibrary.org/obo/MONDO_0011214 | http://purl.obolibrary.org/obo/MONDO_0015762 |
hereditary North American Indian childhood cirrhosis | http://purl.obolibrary.org/obo/MONDO_0011497 | http://purl.obolibrary.org/obo/MONDO_0015762 |
benign recurrent intrahepatic cholestasis type 1 | http://purl.obolibrary.org/obo/MONDO_0009469 | http://purl.obolibrary.org/obo/MONDO_0015762 |
progressive familial intrahepatic cholestasis type 1 | http://purl.obolibrary.org/obo/MONDO_0008892 | http://purl.obolibrary.org/obo/MONDO_0015762 |
benign recurrent intrahepatic cholestasis | http://purl.obolibrary.org/obo/MONDO_0019008 | http://purl.obolibrary.org/obo/MONDO_0017290 |
benign recurrent intrahepatic cholestasis type 2 | http://purl.obolibrary.org/obo/MONDO_0011559 | http://purl.obolibrary.org/obo/MONDO_0019008 |
Intrahepatic cholestasis of pregnancy | http://www.ebi.ac.uk/efo/EFO_0009048 | http://purl.obolibrary.org/obo/MONDO_0015509 |
biliary dyskinesia | http://www.ebi.ac.uk/efo/EFO_0007169 | http://purl.obolibrary.org/obo/MONDO_0015509 |
emphysematous cholecystitis | http://www.ebi.ac.uk/efo/EFO_0007249 | http://purl.obolibrary.org/obo/MONDO_0015509 |
acalculous cholecystitis | http://www.ebi.ac.uk/efo/EFO_1000790 | http://purl.obolibrary.org/obo/MONDO_0015509 |
choledocholithiasis | http://www.ebi.ac.uk/efo/EFO_1000865 | http://purl.obolibrary.org/obo/MONDO_0015509 |
hyperbiliverdinemia | http://purl.obolibrary.org/obo/MONDO_0013595 | http://www.ebi.ac.uk/efo/EFO_0001421 |
Biliary atresia | http://www.orpha.net/ORDO/Orphanet_30391 | http://www.ebi.ac.uk/efo/EFO_0001421 |
cystic liver disease | http://www.ebi.ac.uk/efo/EFO_1001505 | http://www.ebi.ac.uk/efo/EFO_0001421 |
pyogenic liver abscess | http://www.ebi.ac.uk/efo/EFO_1001836 | http://www.ebi.ac.uk/efo/EFO_0001421 |
alcoholic liver disease | http://www.ebi.ac.uk/efo/EFO_0008573 | http://www.ebi.ac.uk/efo/EFO_0001421 |
Hepatitis, Alcoholic | http://www.ebi.ac.uk/efo/EFO_1001345 | http://www.ebi.ac.uk/efo/EFO_0008573 |
glycogen storage disease due to liver phosphorylase kinase deficiency | http://purl.obolibrary.org/obo/MONDO_0020693 | http://www.ebi.ac.uk/efo/EFO_0001421 |
autosomal dominant polycystic liver disease | http://purl.obolibrary.org/obo/MONDO_0000447 | http://www.ebi.ac.uk/efo/EFO_0001421 |
polycystic liver disease 3 with or without kidney cysts | http://purl.obolibrary.org/obo/MONDO_0054743 | http://purl.obolibrary.org/obo/MONDO_0000447 |
polycystic liver disease 4 with or without kidney cysts | http://purl.obolibrary.org/obo/MONDO_0044327 | http://purl.obolibrary.org/obo/MONDO_0000447 |
Autoimmune Hepatitis | http://www.ebi.ac.uk/efo/EFO_0005676 | http://www.ebi.ac.uk/efo/EFO_0001421 |
hepatic lesion | http://www.ebi.ac.uk/efo/EFO_0020920 | http://www.ebi.ac.uk/efo/EFO_0001421 |
acute-on-chronic liver failure | http://www.ebi.ac.uk/efo/EFO_0007949 | http://www.ebi.ac.uk/efo/EFO_0001421 |
transient familial neonatal hyperbilirubinemia | http://purl.obolibrary.org/obo/MONDO_0009383 | http://www.ebi.ac.uk/efo/EFO_0001421 |
hepatic vascular disorder | http://purl.obolibrary.org/obo/MONDO_0002405 | http://www.ebi.ac.uk/efo/EFO_0001421 |
Peliosis Hepatis | http://www.ebi.ac.uk/efo/EFO_1001387 | http://purl.obolibrary.org/obo/MONDO_0002405 |
hepatic veno-occlusive disease | http://purl.obolibrary.org/obo/MONDO_0019514 | http://purl.obolibrary.org/obo/MONDO_0002405 |
hepatic veno-occlusive disease-immunodeficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0009338 | http://purl.obolibrary.org/obo/MONDO_0019514 |
portal hypertension | http://www.ebi.ac.uk/efo/EFO_0000666 | http://purl.obolibrary.org/obo/MONDO_0002405 |
hepatic vein thrombosis | http://www.ebi.ac.uk/efo/EFO_1000966 | http://purl.obolibrary.org/obo/MONDO_0002405 |
hepatic porphyria | http://purl.obolibrary.org/obo/MONDO_0002520 | http://www.ebi.ac.uk/efo/EFO_0001421 |
variegate porphyria | http://purl.obolibrary.org/obo/MONDO_0008297 | http://purl.obolibrary.org/obo/MONDO_0002520 |
acute intermittent porphyria | http://purl.obolibrary.org/obo/MONDO_0008294 | http://purl.obolibrary.org/obo/MONDO_0002520 |
porphyria due to ALA dehydratase deficiency | http://purl.obolibrary.org/obo/MONDO_0013000 | http://purl.obolibrary.org/obo/MONDO_0002520 |
erythropoietic protoporphyria | http://purl.obolibrary.org/obo/MONDO_0001676 | http://purl.obolibrary.org/obo/MONDO_0002520 |
autosomal erythropoietic protoporphyria | http://purl.obolibrary.org/obo/MONDO_0019263 | http://purl.obolibrary.org/obo/MONDO_0001676 |
protoporphyria, erythropoietic, 2 | http://purl.obolibrary.org/obo/MONDO_0060729 | http://purl.obolibrary.org/obo/MONDO_0019263 |
hereditary coproporphyria | http://purl.obolibrary.org/obo/MONDO_0007369 | http://purl.obolibrary.org/obo/MONDO_0002520 |
chronic hepatic porphyria | http://purl.obolibrary.org/obo/MONDO_0019800 | http://purl.obolibrary.org/obo/MONDO_0002520 |
porphyria cutanea tarda | http://purl.obolibrary.org/obo/MONDO_0015104 | http://purl.obolibrary.org/obo/MONDO_0019800 |
sporadic porphyria cutanea tarda | http://purl.obolibrary.org/obo/MONDO_0008295 | http://purl.obolibrary.org/obo/MONDO_0015104 |
hepatoerythropoietic porphyria | http://purl.obolibrary.org/obo/MONDO_0019799 | http://purl.obolibrary.org/obo/MONDO_0015104 |
Familial porphyria cutanea tarda | http://www.ebi.ac.uk/efo/EFO_0009043 | http://purl.obolibrary.org/obo/MONDO_0015104 |
malaria | http://www.ebi.ac.uk/efo/EFO_0001068 | http://www.ebi.ac.uk/efo/EFO_0001421 |
cerebral malaria | http://www.ebi.ac.uk/efo/EFO_0006857 | http://www.ebi.ac.uk/efo/EFO_0001068 |
susceptibility to malaria | http://www.ebi.ac.uk/efo/EFO_0009157 | http://www.ebi.ac.uk/efo/EFO_0001068 |
severe malarial anemia | http://www.ebi.ac.uk/efo/EFO_0010970 | http://www.ebi.ac.uk/efo/EFO_0001068 |
Plasmodium falciparum malaria | http://www.ebi.ac.uk/efo/EFO_0007444 | http://www.ebi.ac.uk/efo/EFO_0001068 |
Plasmodium vivax malaria | http://www.ebi.ac.uk/efo/EFO_0007445 | http://www.ebi.ac.uk/efo/EFO_0001068 |
blackwater fever | http://www.ebi.ac.uk/efo/EFO_0007172 | http://www.ebi.ac.uk/efo/EFO_0001068 |
fatty liver disease | http://purl.obolibrary.org/obo/MONDO_0004790 | http://www.ebi.ac.uk/efo/EFO_0001421 |
non-alcoholic fatty liver disease | http://www.ebi.ac.uk/efo/EFO_0003095 | http://purl.obolibrary.org/obo/MONDO_0004790 |
non-alcoholic steatohepatitis | http://www.ebi.ac.uk/efo/EFO_1001249 | http://www.ebi.ac.uk/efo/EFO_0003095 |
fascioloidiasis | http://www.ebi.ac.uk/efo/EFO_0007268 | http://www.ebi.ac.uk/efo/EFO_0001421 |
hepatic tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007302 | http://www.ebi.ac.uk/efo/EFO_0001421 |
fulminant viral hepatitis | http://purl.obolibrary.org/obo/MONDO_0018109 | http://www.ebi.ac.uk/efo/EFO_0001421 |
clonorchiasis | http://www.ebi.ac.uk/efo/EFO_0007210 | http://www.ebi.ac.uk/efo/EFO_0001421 |
perinatal jaundice due to hepatocellular damage | http://www.ebi.ac.uk/efo/EFO_1000750 | http://www.ebi.ac.uk/efo/EFO_0001421 |
Aagenaes syndrome | http://purl.obolibrary.org/obo/MONDO_0008966 | http://www.ebi.ac.uk/efo/EFO_0001421 |
inherited obesity | http://purl.obolibrary.org/obo/MONDO_0019182 | http://www.ebi.ac.uk/efo/EFO_0001379 |
genetic non-syndromic obesity | http://purl.obolibrary.org/obo/MONDO_0020075 | http://purl.obolibrary.org/obo/MONDO_0019182 |
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | http://purl.obolibrary.org/obo/MONDO_0017994 | http://purl.obolibrary.org/obo/MONDO_0020075 |
obesity due to melanocortin 4 receptor deficiency | http://purl.obolibrary.org/obo/MONDO_0019115 | http://purl.obolibrary.org/obo/MONDO_0020075 |
obesity due to CEP19 deficiency | http://purl.obolibrary.org/obo/MONDO_0014309 | http://purl.obolibrary.org/obo/MONDO_0020075 |
obesity due to pro-opiomelanocortin deficiency | http://purl.obolibrary.org/obo/MONDO_0012335 | http://purl.obolibrary.org/obo/MONDO_0020075 |
obesity due to SIM1 deficiency | http://purl.obolibrary.org/obo/MONDO_0018244 | http://purl.obolibrary.org/obo/MONDO_0020075 |
Leydig cell hypoplasia | http://purl.obolibrary.org/obo/MONDO_0019155 | http://www.ebi.ac.uk/efo/EFO_0001379 |
hypogonadotropic hypogonadism 23 with or without anosmia | http://purl.obolibrary.org/obo/MONDO_0009223 | http://purl.obolibrary.org/obo/MONDO_0019155 |
Leydig cell hypoplasia, type 1 | http://purl.obolibrary.org/obo/MONDO_0009384 | http://purl.obolibrary.org/obo/MONDO_0019155 |
Leydig cell hypoplasia due to complete LH resistance | http://purl.obolibrary.org/obo/MONDO_0019930 | http://purl.obolibrary.org/obo/MONDO_0009384 |
Leydig cell hypoplasia due to partial LH resistance | http://purl.obolibrary.org/obo/MONDO_0019931 | http://purl.obolibrary.org/obo/MONDO_0009384 |
Leydig cell hypoplasia due to LHB deficiency | http://www.orpha.net/ORDO/Orphanet_325448 | http://purl.obolibrary.org/obo/MONDO_0019155 |
female athlete triad syndrome | http://www.ebi.ac.uk/efo/EFO_1001790 | http://www.ebi.ac.uk/efo/EFO_0001379 |
adrenal gland disease | http://www.ebi.ac.uk/efo/EFO_0005539 | http://www.ebi.ac.uk/efo/EFO_0001379 |
pituitary dwarfism | http://www.ebi.ac.uk/efo/EFO_1001109 | http://www.ebi.ac.uk/efo/EFO_0005539 |
pseudoleprechaunism syndrome, Patterson type | http://purl.obolibrary.org/obo/MONDO_0008211 | http://www.ebi.ac.uk/efo/EFO_0005539 |
hypoaldosteronism disease | http://purl.obolibrary.org/obo/MONDO_0015900 | http://www.ebi.ac.uk/efo/EFO_0005539 |
familial hypoaldosteronism | http://purl.obolibrary.org/obo/MONDO_0018541 | http://purl.obolibrary.org/obo/MONDO_0015900 |
familial hyperreninemic hypoaldosteronism type 2 | http://purl.obolibrary.org/obo/MONDO_0011754 | http://purl.obolibrary.org/obo/MONDO_0018541 |
familial hyperreninemic hypoaldosteronism type 1 | http://purl.obolibrary.org/obo/MONDO_0020489 | http://purl.obolibrary.org/obo/MONDO_0018541 |
corticosterone methyloxidase type 2 deficiency | http://purl.obolibrary.org/obo/MONDO_0012524 | http://purl.obolibrary.org/obo/MONDO_0020489 |
adrenogenital syndrome | http://purl.obolibrary.org/obo/MONDO_0015898 | http://www.ebi.ac.uk/efo/EFO_0005539 |
acquired adrenogenital syndrome | http://purl.obolibrary.org/obo/MONDO_0045023 | http://purl.obolibrary.org/obo/MONDO_0015898 |
cortisone reductase deficiency | http://purl.obolibrary.org/obo/MONDO_0000193 | http://purl.obolibrary.org/obo/MONDO_0015898 |
primary pigmented nodular adrenocortical disease | http://purl.obolibrary.org/obo/MONDO_0015999 | http://www.ebi.ac.uk/efo/EFO_0005539 |
primary aldosteronism | http://purl.obolibrary.org/obo/MONDO_0001422 | http://www.ebi.ac.uk/efo/EFO_0005539 |
familial hyperaldosteronism | http://purl.obolibrary.org/obo/MONDO_0016525 | http://purl.obolibrary.org/obo/MONDO_0001422 |
familial hyperaldosteronism type III | http://purl.obolibrary.org/obo/MONDO_0013359 | http://purl.obolibrary.org/obo/MONDO_0016525 |
glucocorticoid-remediable aldosteronism | http://purl.obolibrary.org/obo/MONDO_0007080 | http://purl.obolibrary.org/obo/MONDO_0016525 |
Aldosterone-producing adenoma with seizures and neurological abnormalities | http://www.orpha.net/ORDO/Orphanet_369929 | http://purl.obolibrary.org/obo/MONDO_0016525 |
aldosterone-producing adenoma with seizures and neurological abnormalities | http://purl.obolibrary.org/obo/MONDO_0014200 | http://purl.obolibrary.org/obo/MONDO_0016525 |
Familial hyperaldosteronism type III | http://www.orpha.net/ORDO/Orphanet_251274 | http://purl.obolibrary.org/obo/MONDO_0016525 |
hereditary pheochromocytoma-paraganglioma | http://purl.obolibrary.org/obo/MONDO_0017366 | http://www.ebi.ac.uk/efo/EFO_0005539 |
primary adrenal insufficiency | http://purl.obolibrary.org/obo/MONDO_0015128 | http://www.ebi.ac.uk/efo/EFO_0005539 |
chronic primary adrenal insufficiency | http://purl.obolibrary.org/obo/MONDO_0015129 | http://purl.obolibrary.org/obo/MONDO_0015128 |
inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | http://purl.obolibrary.org/obo/MONDO_0017337 | http://purl.obolibrary.org/obo/MONDO_0015129 |
acquired chronic primary adrenal insufficiency | http://purl.obolibrary.org/obo/MONDO_0015130 | http://purl.obolibrary.org/obo/MONDO_0015129 |
familial glucocorticoid deficiency | http://purl.obolibrary.org/obo/MONDO_0008733 | http://purl.obolibrary.org/obo/MONDO_0015129 |
acute adrenal insufficiency | http://purl.obolibrary.org/obo/MONDO_0019801 | http://purl.obolibrary.org/obo/MONDO_0015128 |
Waterhouse-Friderichsen syndrome | http://www.ebi.ac.uk/efo/EFO_0007544 | http://purl.obolibrary.org/obo/MONDO_0019801 |
Cushing syndrome | http://www.ebi.ac.uk/efo/EFO_0003099 | http://www.ebi.ac.uk/efo/EFO_0005539 |
pituitary-dependent Cushing's disease | http://www.ebi.ac.uk/efo/EFO_1001110 | http://www.ebi.ac.uk/efo/EFO_0003099 |
Cushing syndrome due to macronodular adrenal hyperplasia | http://www.ebi.ac.uk/efo/EFO_0009041 | http://www.ebi.ac.uk/efo/EFO_0003099 |
acth-independent macronodular adrenal hyperplasia 2 | http://www.ebi.ac.uk/efo/EFO_0009148 | http://www.ebi.ac.uk/efo/EFO_0009041 |
apparent mineralocorticoid excess | http://purl.obolibrary.org/obo/MONDO_0009025 | http://www.ebi.ac.uk/efo/EFO_0005539 |
corticosteroid-binding globulin deficiency | http://purl.obolibrary.org/obo/MONDO_0012675 | http://www.ebi.ac.uk/efo/EFO_0005539 |
adrenomyodystrophy | http://purl.obolibrary.org/obo/MONDO_0010288 | http://www.ebi.ac.uk/efo/EFO_0005539 |
adrenal cortex disorder | http://purl.obolibrary.org/obo/MONDO_0002816 | http://www.ebi.ac.uk/efo/EFO_0005539 |
adrenocortical insufficiency | http://www.ebi.ac.uk/efo/EFO_0009491 | http://purl.obolibrary.org/obo/MONDO_0002816 |
adrenal gland hyperfunction | http://www.ebi.ac.uk/efo/EFO_1000797 | http://purl.obolibrary.org/obo/MONDO_0002816 |
hyperaldosteronism | http://www.ebi.ac.uk/efo/EFO_0009452 | http://www.ebi.ac.uk/efo/EFO_1000797 |
adrenoleukodystrophy | http://purl.obolibrary.org/obo/MONDO_0018544 | http://www.ebi.ac.uk/efo/EFO_0005539 |
adrenomyeloneuropathy | http://purl.obolibrary.org/obo/MONDO_0015339 | http://purl.obolibrary.org/obo/MONDO_0018544 |
X-linked cerebral adrenoleukodystrophy | http://purl.obolibrary.org/obo/MONDO_0010247 | http://purl.obolibrary.org/obo/MONDO_0018544 |
autoimmune disorder of endocrine system | http://purl.obolibrary.org/obo/MONDO_0000569 | http://www.ebi.ac.uk/efo/EFO_0001379 |
autoimmune thyroid disease | http://www.ebi.ac.uk/efo/EFO_0006812 | http://purl.obolibrary.org/obo/MONDO_0000569 |
atrophic thyroiditis | http://www.ebi.ac.uk/efo/EFO_0006813 | http://www.ebi.ac.uk/efo/EFO_0006812 |
Graves disease | http://www.ebi.ac.uk/efo/EFO_0004237 | http://www.ebi.ac.uk/efo/EFO_0006812 |
Graves ophthalmopathy | http://www.ebi.ac.uk/efo/EFO_1001466 | http://www.ebi.ac.uk/efo/EFO_0004237 |
Thyrotoxicosis | http://www.ebi.ac.uk/efo/EFO_0009190 | http://www.ebi.ac.uk/efo/EFO_0004237 |
Postpartum Thyroiditis | http://www.ebi.ac.uk/efo/EFO_1001403 | http://www.ebi.ac.uk/efo/EFO_0006812 |
Hashimoto's thyroiditis | http://www.ebi.ac.uk/efo/EFO_0003779 | http://www.ebi.ac.uk/efo/EFO_0006812 |
autoimmune pancreatitis | http://purl.obolibrary.org/obo/MONDO_0015175 | http://purl.obolibrary.org/obo/MONDO_0000569 |
autoimmune pancreatitis type 1 | http://www.ebi.ac.uk/efo/EFO_1000780 | http://purl.obolibrary.org/obo/MONDO_0015175 |
type 1 diabetes mellitus | http://purl.obolibrary.org/obo/MONDO_0005147 | http://purl.obolibrary.org/obo/MONDO_0000569 |
idiopathic type 1 diabetes | http://www.ebi.ac.uk/efo/EFO_0009757 | http://purl.obolibrary.org/obo/MONDO_0005147 |
fulminant type 1 diabetes | http://www.ebi.ac.uk/efo/EFO_0009758 | http://www.ebi.ac.uk/efo/EFO_0009757 |
autoimmune type 1 diabetes | http://www.ebi.ac.uk/efo/EFO_0009756 | http://purl.obolibrary.org/obo/MONDO_0005147 |
latent autoimmune diabetes in adults | http://www.ebi.ac.uk/efo/EFO_0009706 | http://purl.obolibrary.org/obo/MONDO_0005147 |
autoimmune hypoparathyroidism | http://purl.obolibrary.org/obo/MONDO_0018242 | http://purl.obolibrary.org/obo/MONDO_0000569 |
gonadal disorder | http://purl.obolibrary.org/obo/MONDO_0002259 | http://www.ebi.ac.uk/efo/EFO_0001379 |
ovarian disease | http://www.ebi.ac.uk/efo/EFO_0005771 | http://purl.obolibrary.org/obo/MONDO_0002259 |
oophoritis | http://www.ebi.ac.uk/efo/EFO_1001071 | http://www.ebi.ac.uk/efo/EFO_0005771 |
Rare female infertility due to an anomaly of ovarian function of genetic origin | http://www.orpha.net/ORDO/Orphanet_400022 | http://www.ebi.ac.uk/efo/EFO_0005771 |
ovarian hyperstimulation syndrome | http://purl.obolibrary.org/obo/MONDO_0011972 | http://www.ebi.ac.uk/efo/EFO_0005771 |
Ovarian hyperstimulation syndrome | http://www.orpha.net/ORDO/Orphanet_64739 | http://www.ebi.ac.uk/efo/EFO_0005771 |
anovulation | http://purl.obolibrary.org/obo/MONDO_0002775 | http://www.ebi.ac.uk/efo/EFO_0005771 |
polycystic ovary syndrome | http://www.ebi.ac.uk/efo/EFO_0000660 | http://www.ebi.ac.uk/efo/EFO_0005771 |
ovarian dysfunction | http://www.ebi.ac.uk/efo/EFO_0009003 | http://www.ebi.ac.uk/efo/EFO_0005771 |
primary ovarian insufficiency | http://www.ebi.ac.uk/efo/EFO_0004266 | http://www.ebi.ac.uk/efo/EFO_0009003 |
acquired primary ovarian failure | http://purl.obolibrary.org/obo/MONDO_0019851 | http://www.ebi.ac.uk/efo/EFO_0004266 |
premature menopause | http://www.ebi.ac.uk/efo/EFO_0009005 | http://www.ebi.ac.uk/efo/EFO_0004266 |
hyperestrogenism | http://www.ebi.ac.uk/efo/EFO_0009004 | http://www.ebi.ac.uk/efo/EFO_0009003 |
hyperandrogenism | http://www.ebi.ac.uk/efo/EFO_0009006 | http://www.ebi.ac.uk/efo/EFO_0009003 |
Ovarian Hyperandrogenism | http://www.ebi.ac.uk/efo/EFO_0009008 | http://www.ebi.ac.uk/efo/EFO_0009006 |
Adrenal Hyperandrogenism | http://www.ebi.ac.uk/efo/EFO_0009007 | http://www.ebi.ac.uk/efo/EFO_0009006 |
Ovarian Endometriosis | http://www.ebi.ac.uk/efo/EFO_1000418 | http://www.ebi.ac.uk/efo/EFO_0005771 |
Menstrual disorder | http://www.ebi.ac.uk/efo/EFO_0010270 | http://www.ebi.ac.uk/efo/EFO_0005771 |
amenorrhea | http://www.ebi.ac.uk/efo/EFO_0010269 | http://www.ebi.ac.uk/efo/EFO_0010270 |
hypogonadism | http://purl.obolibrary.org/obo/MONDO_0002146 | http://purl.obolibrary.org/obo/MONDO_0002259 |
gonadal dysgenesis | http://purl.obolibrary.org/obo/MONDO_0001967 | http://purl.obolibrary.org/obo/MONDO_0002146 |
testicular dysgenesis syndrome | http://www.ebi.ac.uk/efo/EFO_0004893 | http://purl.obolibrary.org/obo/MONDO_0001967 |
eunuchism | http://www.ebi.ac.uk/efo/EFO_0007266 | http://purl.obolibrary.org/obo/MONDO_0002146 |
hypogonadotropic hypogonadism | http://purl.obolibrary.org/obo/MONDO_0018555 | http://purl.obolibrary.org/obo/MONDO_0002146 |
hypogonadotropic hypogonadism 24 without anosmia | http://purl.obolibrary.org/obo/MONDO_0009239 | http://purl.obolibrary.org/obo/MONDO_0018555 |
Kallmann syndrome | http://purl.obolibrary.org/obo/MONDO_0018800 | http://purl.obolibrary.org/obo/MONDO_0018555 |
hypogonadotropic hypogonadism 2 with or without anosmia | http://purl.obolibrary.org/obo/MONDO_0007844 | http://purl.obolibrary.org/obo/MONDO_0018800 |
hypogonadotropic hypogonadism 6 with or without anosmia | http://purl.obolibrary.org/obo/MONDO_0012988 | http://purl.obolibrary.org/obo/MONDO_0018800 |
hypogonadotropic hypogonadism 5 with or without anosmia | http://purl.obolibrary.org/obo/MONDO_0012880 | http://purl.obolibrary.org/obo/MONDO_0018800 |
hypogonadotropic hypogonadism 1 with or without anosmia | http://purl.obolibrary.org/obo/MONDO_0010635 | http://purl.obolibrary.org/obo/MONDO_0018800 |
testicular disease | http://www.ebi.ac.uk/efo/EFO_0009601 | http://purl.obolibrary.org/obo/MONDO_0002259 |
orchitis | http://www.ebi.ac.uk/efo/EFO_1001078 | http://www.ebi.ac.uk/efo/EFO_0009601 |
hypercalcemia, infantile | http://purl.obolibrary.org/obo/MONDO_0000212 | http://www.ebi.ac.uk/efo/EFO_0001379 |
parathyroid disease | http://www.ebi.ac.uk/efo/EFO_0005754 | http://www.ebi.ac.uk/efo/EFO_0001379 |
hyperparathyroidism | http://www.ebi.ac.uk/efo/EFO_0008506 | http://www.ebi.ac.uk/efo/EFO_0005754 |
secondary hyperparathyroidism | http://www.ebi.ac.uk/efo/EFO_1001173 | http://www.ebi.ac.uk/efo/EFO_0008506 |
non-renal secondary hyperparathyroidism | http://purl.obolibrary.org/obo/MONDO_0001750 | http://www.ebi.ac.uk/efo/EFO_1001173 |
secondary hyperparathyroidism of renal origin | http://purl.obolibrary.org/obo/MONDO_0001530 | http://www.ebi.ac.uk/efo/EFO_1001173 |
renal osteodystrophy | http://www.ebi.ac.uk/efo/EFO_1001152 | http://purl.obolibrary.org/obo/MONDO_0001530 |
primary hyperparathyroidism | http://www.ebi.ac.uk/efo/EFO_0008519 | http://www.ebi.ac.uk/efo/EFO_0008506 |
genetic hyperparathyroidism | http://purl.obolibrary.org/obo/MONDO_0016166 | http://www.ebi.ac.uk/efo/EFO_0008506 |
hyperparathyroidism, transient neonatal | http://purl.obolibrary.org/obo/MONDO_0032591 | http://purl.obolibrary.org/obo/MONDO_0016166 |
hypoparathyroidism | http://www.ebi.ac.uk/efo/EFO_0009451 | http://www.ebi.ac.uk/efo/EFO_0005754 |
genetic hypoparathyroidism | http://purl.obolibrary.org/obo/MONDO_0016165 | http://www.ebi.ac.uk/efo/EFO_0009451 |
familial hypoparathyroidism | http://purl.obolibrary.org/obo/MONDO_0016390 | http://purl.obolibrary.org/obo/MONDO_0016165 |
hypoparathyroidism, familial isolated, 2 | http://purl.obolibrary.org/obo/MONDO_0020798 | http://purl.obolibrary.org/obo/MONDO_0016390 |
hypoparathyroidism, familial isolated 1 | http://purl.obolibrary.org/obo/MONDO_0007796 | http://purl.obolibrary.org/obo/MONDO_0016390 |
familial isolated hypoparathyroidism due to agenesis of parathyroid gland | http://purl.obolibrary.org/obo/MONDO_0010618 | http://purl.obolibrary.org/obo/MONDO_0007796 |
familial isolated hypoparathyroidism due to impaired PTH secretion | http://purl.obolibrary.org/obo/MONDO_0016000 | http://purl.obolibrary.org/obo/MONDO_0007796 |
autosomal dominant hypocalcemia | http://purl.obolibrary.org/obo/MONDO_0018543 | http://purl.obolibrary.org/obo/MONDO_0016390 |
autosomal dominant hypocalcemia 1 | http://purl.obolibrary.org/obo/MONDO_0011013 | http://purl.obolibrary.org/obo/MONDO_0018543 |
combined partial 17-alpha-hydroxylase/17,20-lyase deficiency | http://www.ebi.ac.uk/efo/EFO_0009067 | http://www.ebi.ac.uk/efo/EFO_0001379 |
neuroendocrine disorder | http://purl.obolibrary.org/obo/MONDO_0100070 | http://www.ebi.ac.uk/efo/EFO_0001379 |
pituitary gland disease | http://www.ebi.ac.uk/efo/EFO_0009607 | http://purl.obolibrary.org/obo/MONDO_0100070 |
hypopituitarism | http://www.ebi.ac.uk/efo/EFO_0001380 | http://www.ebi.ac.uk/efo/EFO_0009607 |
anterior pituitary gland disorder | http://purl.obolibrary.org/obo/MONDO_0024468 | http://www.ebi.ac.uk/efo/EFO_0009607 |
hyperpituitarism | http://www.ebi.ac.uk/efo/EFO_1000973 | http://purl.obolibrary.org/obo/MONDO_0024468 |
hyperprolactinemia | http://www.ebi.ac.uk/efo/EFO_0007319 | http://www.ebi.ac.uk/efo/EFO_1000973 |
familial hyperprolactinemia | http://purl.obolibrary.org/obo/MONDO_0014250 | http://www.ebi.ac.uk/efo/EFO_0007319 |
acquired hyperprolactinemia | http://purl.obolibrary.org/obo/MONDO_0024305 | http://www.ebi.ac.uk/efo/EFO_0007319 |
necrosis of pituitary | http://purl.obolibrary.org/obo/MONDO_0002721 | http://www.ebi.ac.uk/efo/EFO_0009607 |
pituitary gland infarction | http://purl.obolibrary.org/obo/MONDO_0001259 | http://purl.obolibrary.org/obo/MONDO_0002721 |
empty sella syndrome | http://www.ebi.ac.uk/efo/EFO_1000914 | http://www.ebi.ac.uk/efo/EFO_0009607 |
hyperinsulinemic hypoglycemia | http://www.ebi.ac.uk/efo/EFO_0007318 | http://www.ebi.ac.uk/efo/EFO_0001379 |
hyperinsulinemic hypoglycemia, familial, 1 | http://purl.obolibrary.org/obo/MONDO_0009734 | http://www.ebi.ac.uk/efo/EFO_0007318 |
familial hyperinsulinism | http://purl.obolibrary.org/obo/MONDO_0017182 | http://www.ebi.ac.uk/efo/EFO_0007318 |
adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia | http://purl.obolibrary.org/obo/MONDO_0017189 | http://purl.obolibrary.org/obo/MONDO_0017182 |
hyperinsulinism due to INSR deficiency | http://purl.obolibrary.org/obo/MONDO_0012381 | http://purl.obolibrary.org/obo/MONDO_0017182 |
Non-Neoplastic Bile Duct Disorder | http://www.ebi.ac.uk/efo/EFO_1000400 | http://www.ebi.ac.uk/efo/EFO_0001379 |
obstructive jaundice | http://www.ebi.ac.uk/efo/EFO_1001068 | http://www.ebi.ac.uk/efo/EFO_1000400 |
cholangitis | http://purl.obolibrary.org/obo/MONDO_0004789 | http://www.ebi.ac.uk/efo/EFO_1000400 |
extrahepatic cholestasis | http://www.ebi.ac.uk/efo/EFO_1000933 | http://www.ebi.ac.uk/efo/EFO_1000400 |
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | http://purl.obolibrary.org/obo/MONDO_0008915 | http://www.ebi.ac.uk/efo/EFO_0001379 |
pancreas disease | http://www.ebi.ac.uk/efo/EFO_0009605 | http://www.ebi.ac.uk/efo/EFO_0001379 |
endocrine pancreas disorder | http://purl.obolibrary.org/obo/MONDO_0001933 | http://www.ebi.ac.uk/efo/EFO_0009605 |
gastrin secretion abnormality | http://purl.obolibrary.org/obo/MONDO_0001770 | http://purl.obolibrary.org/obo/MONDO_0001933 |
aggressive insulitis | http://www.ebi.ac.uk/efo/EFO_0002498 | http://purl.obolibrary.org/obo/MONDO_0001933 |
benign insulitis | http://www.ebi.ac.uk/efo/EFO_0002502 | http://purl.obolibrary.org/obo/MONDO_0001933 |
islet cell adenomatosis | http://purl.obolibrary.org/obo/MONDO_0007834 | http://purl.obolibrary.org/obo/MONDO_0001933 |
diabetes mellitus | http://www.ebi.ac.uk/efo/EFO_0000400 | http://purl.obolibrary.org/obo/MONDO_0001933 |
prediabetes syndrome | http://www.ebi.ac.uk/efo/EFO_1001121 | http://www.ebi.ac.uk/efo/EFO_0000400 |
hereditary chronic pancreatitis | http://purl.obolibrary.org/obo/MONDO_0008185 | http://www.ebi.ac.uk/efo/EFO_0000400 |
congenital generalized lipodystrophy type 4 | http://purl.obolibrary.org/obo/MONDO_0013225 | http://www.ebi.ac.uk/efo/EFO_0000400 |
PLIN1-related familial partial lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0013478 | http://www.ebi.ac.uk/efo/EFO_0000400 |
gestational diabetes | http://www.ebi.ac.uk/efo/EFO_0004593 | http://www.ebi.ac.uk/efo/EFO_0000400 |
laminopathy type Decaudain-Vigouroux | http://purl.obolibrary.org/obo/MONDO_0015308 | http://www.ebi.ac.uk/efo/EFO_0000400 |
Rabson-Mendenhall syndrome | http://purl.obolibrary.org/obo/MONDO_0009874 | http://www.ebi.ac.uk/efo/EFO_0000400 |
pancreatic hypoplasia-diabetes-congenital heart disease syndrome | http://purl.obolibrary.org/obo/MONDO_0010802 | http://www.ebi.ac.uk/efo/EFO_0000400 |
monogenic diabetes | http://www.ebi.ac.uk/efo/EFO_1001511 | http://www.ebi.ac.uk/efo/EFO_0000400 |
acquired generalized lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0019193 | http://www.ebi.ac.uk/efo/EFO_0000400 |
type 2 diabetes mellitus | http://purl.obolibrary.org/obo/MONDO_0005148 | http://www.ebi.ac.uk/efo/EFO_0000400 |
type II diabetes mellitus with acanthosis nigricans | http://www.ebi.ac.uk/efo/EFO_1001503 | http://purl.obolibrary.org/obo/MONDO_0005148 |
lipoatrophic diabetes | http://www.ebi.ac.uk/efo/EFO_0007346 | http://purl.obolibrary.org/obo/MONDO_0005148 |
autosomal semi-dominant severe lipodystrophic laminopathy | http://purl.obolibrary.org/obo/MONDO_0017230 | http://www.ebi.ac.uk/efo/EFO_0000400 |
insulin-resistance syndrome type A | http://purl.obolibrary.org/obo/MONDO_0012520 | http://www.ebi.ac.uk/efo/EFO_0000400 |
Stiff-Person syndrome | http://www.ebi.ac.uk/efo/EFO_0007498 | http://www.ebi.ac.uk/efo/EFO_0000400 |
short fifth metacarpals-insulin resistance syndrome | http://purl.obolibrary.org/obo/MONDO_0019017 | http://www.ebi.ac.uk/efo/EFO_0000400 |
insulin-resistant diabetes mellitus | http://www.ebi.ac.uk/efo/EFO_0010164 | http://www.ebi.ac.uk/efo/EFO_0000400 |
neonatal diabetes mellitus | http://purl.obolibrary.org/obo/MONDO_0016391 | http://www.ebi.ac.uk/efo/EFO_0000400 |
transient neonatal diabetes mellitus | http://purl.obolibrary.org/obo/MONDO_0020525 | http://purl.obolibrary.org/obo/MONDO_0016391 |
neonatal diabetes mellitus with congenital hypothyroidism | http://purl.obolibrary.org/obo/MONDO_0012436 | http://purl.obolibrary.org/obo/MONDO_0016391 |
permanent neonatal diabetes mellitus | http://purl.obolibrary.org/obo/MONDO_0100164 | http://purl.obolibrary.org/obo/MONDO_0016391 |
DEND syndrome | http://purl.obolibrary.org/obo/MONDO_0019207 | http://purl.obolibrary.org/obo/MONDO_0100164 |
intermediate DEND syndrome | http://purl.obolibrary.org/obo/MONDO_0020569 | http://purl.obolibrary.org/obo/MONDO_0019207 |
Intermediate DEND syndrome | http://www.orpha.net/ORDO/Orphanet_99989 | http://purl.obolibrary.org/obo/MONDO_0019207 |
diabetes mellitus, permanent neonatal 2 | http://purl.obolibrary.org/obo/MONDO_0030087 | http://purl.obolibrary.org/obo/MONDO_0100164 |
diabetes mellitus, permanent neonatal 3 | http://purl.obolibrary.org/obo/MONDO_0030088 | http://purl.obolibrary.org/obo/MONDO_0100164 |
diabetes mellitus, permanent neonatal 4 | http://purl.obolibrary.org/obo/MONDO_0030089 | http://purl.obolibrary.org/obo/MONDO_0100164 |
maturity-onset diabetes of the young | http://purl.obolibrary.org/obo/MONDO_0018911 | http://www.ebi.ac.uk/efo/EFO_0000400 |
maturity-onset diabetes of the young type 4 | http://purl.obolibrary.org/obo/MONDO_0011667 | http://purl.obolibrary.org/obo/MONDO_0018911 |
maturity-onset diabetes of the young type 6 | http://purl.obolibrary.org/obo/MONDO_0011668 | http://purl.obolibrary.org/obo/MONDO_0018911 |
insulin-resistance syndrome type B | http://purl.obolibrary.org/obo/MONDO_0016464 | http://www.ebi.ac.uk/efo/EFO_0000400 |
Neonatal insulin-dependent diabetes mellitus | http://purl.obolibrary.org/obo/HP_0000857 | http://www.ebi.ac.uk/efo/EFO_0000400 |
acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome | http://purl.obolibrary.org/obo/MONDO_0008696 | http://www.ebi.ac.uk/efo/EFO_0000400 |
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | http://purl.obolibrary.org/obo/MONDO_0018320 | http://www.ebi.ac.uk/efo/EFO_0000400 |
diabetic ketoacidosis | http://www.ebi.ac.uk/efo/EFO_1000897 | http://www.ebi.ac.uk/efo/EFO_0000400 |
hyperinsulinism | http://purl.obolibrary.org/obo/MONDO_0002177 | http://purl.obolibrary.org/obo/MONDO_0001933 |
exocrine pancreatic insufficiency | http://purl.obolibrary.org/obo/MONDO_0001684 | http://www.ebi.ac.uk/efo/EFO_0009605 |
disorder of lipid absorption and transport | http://purl.obolibrary.org/obo/MONDO_0017709 | http://www.ebi.ac.uk/efo/EFO_0009605 |
pancreatic triacylglycerol lipase deficiency | http://purl.obolibrary.org/obo/MONDO_0013700 | http://purl.obolibrary.org/obo/MONDO_0017709 |
combined pancreatic lipase-colipase deficiency | http://purl.obolibrary.org/obo/MONDO_0017712 | http://purl.obolibrary.org/obo/MONDO_0013700 |
pancreatic colipase deficiency | http://purl.obolibrary.org/obo/MONDO_0017711 | http://purl.obolibrary.org/obo/MONDO_0013700 |
pancreatitis | http://www.ebi.ac.uk/efo/EFO_0000278 | http://www.ebi.ac.uk/efo/EFO_0009605 |
thiopurine immunosuppressant-induced pancreatitis | http://www.ebi.ac.uk/efo/EFO_0006315 | http://www.ebi.ac.uk/efo/EFO_0000278 |
alcoholic pancreatitis | http://www.ebi.ac.uk/efo/EFO_1002013 | http://www.ebi.ac.uk/efo/EFO_0000278 |
chronic pancreatitis | http://www.ebi.ac.uk/efo/EFO_0000342 | http://www.ebi.ac.uk/efo/EFO_0000278 |
acute pancreatitis | http://www.ebi.ac.uk/efo/EFO_1000652 | http://www.ebi.ac.uk/efo/EFO_0000278 |
asparaginase-induced acute pancreatitis | http://www.ebi.ac.uk/efo/EFO_1001507 | http://www.ebi.ac.uk/efo/EFO_1000652 |
Genetic pancreatic disease | http://www.orpha.net/ORDO/Orphanet_165661 | http://www.ebi.ac.uk/efo/EFO_0009605 |
Disorder of lipid absorption and transport | http://www.orpha.net/ORDO/Orphanet_309028 | http://www.orpha.net/ORDO/Orphanet_165661 |
Combined pancreatic lipase-colipase deficiency | http://www.orpha.net/ORDO/Orphanet_309111 | http://www.orpha.net/ORDO/Orphanet_309028 |
Pancreatic colipase deficiency | http://www.orpha.net/ORDO/Orphanet_309108 | http://www.orpha.net/ORDO/Orphanet_309028 |
Pancreatic triacylglycerol lipase deficiency | http://www.orpha.net/ORDO/Orphanet_309031 | http://www.orpha.net/ORDO/Orphanet_309028 |
Pancreatic insufficiency - anemia - hyperostosis | http://www.orpha.net/ORDO/Orphanet_199337 | http://www.orpha.net/ORDO/Orphanet_165661 |
Familial pancreatic carcinoma | http://www.orpha.net/ORDO/Orphanet_1333 | http://www.orpha.net/ORDO/Orphanet_165661 |
thyroid disease | http://www.ebi.ac.uk/efo/EFO_1000627 | http://www.ebi.ac.uk/efo/EFO_0001379 |
goiter | http://www.ebi.ac.uk/efo/EFO_0004283 | http://www.ebi.ac.uk/efo/EFO_1000627 |
substernal goiter | http://www.ebi.ac.uk/efo/EFO_1001198 | http://www.ebi.ac.uk/efo/EFO_0004283 |
nodular goiter | http://www.ebi.ac.uk/efo/EFO_1001062 | http://www.ebi.ac.uk/efo/EFO_0004283 |
multinodular goiter | http://purl.obolibrary.org/obo/MONDO_0000334 | http://www.ebi.ac.uk/efo/EFO_1001062 |
goiter, multinodular 1, with or without Sertoli-Leydig cell tumors | http://purl.obolibrary.org/obo/MONDO_0007681 | http://purl.obolibrary.org/obo/MONDO_0000334 |
Toxic Nodular Goiter | http://www.ebi.ac.uk/efo/EFO_0009191 | http://www.ebi.ac.uk/efo/EFO_1001062 |
lingual goiter | http://www.ebi.ac.uk/efo/EFO_1001018 | http://www.ebi.ac.uk/efo/EFO_0004283 |
nontoxic goiter | http://purl.obolibrary.org/obo/MONDO_0001658 | http://www.ebi.ac.uk/efo/EFO_0004283 |
endemic goiter | http://www.ebi.ac.uk/efo/EFO_1000916 | http://www.ebi.ac.uk/efo/EFO_0004283 |
hyperthyroxinemia | http://www.ebi.ac.uk/efo/EFO_0004127 | http://www.ebi.ac.uk/efo/EFO_1000627 |
inherited thyroid metabolism disease | http://purl.obolibrary.org/obo/MONDO_0045046 | http://www.ebi.ac.uk/efo/EFO_1000627 |
thyroid hormone resistance syndrome | http://purl.obolibrary.org/obo/MONDO_0001328 | http://purl.obolibrary.org/obo/MONDO_0045046 |
generalized resistance to thyroid hormone | http://purl.obolibrary.org/obo/MONDO_0009043 | http://purl.obolibrary.org/obo/MONDO_0001328 |
resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta | http://purl.obolibrary.org/obo/MONDO_0034217 | http://purl.obolibrary.org/obo/MONDO_0001328 |
selective pituitary resistance to thyroid hormone | http://purl.obolibrary.org/obo/MONDO_0007784 | http://purl.obolibrary.org/obo/MONDO_0034217 |
hypothyroidism | http://www.ebi.ac.uk/efo/EFO_0004705 | http://www.ebi.ac.uk/efo/EFO_1000627 |
myxedema | http://www.ebi.ac.uk/efo/EFO_1001055 | http://www.ebi.ac.uk/efo/EFO_0004705 |
Iodine Deficiency Hypothyroidism | http://www.ebi.ac.uk/efo/EFO_0008614 | http://www.ebi.ac.uk/efo/EFO_0004705 |
congenital hypothyroidism | http://purl.obolibrary.org/obo/MONDO_0018612 | http://www.ebi.ac.uk/efo/EFO_0004705 |
transient congenital hypothyroidism | http://purl.obolibrary.org/obo/MONDO_0015792 | http://purl.obolibrary.org/obo/MONDO_0018612 |
transient congenital hypothyroidism due to neonatal factor | http://purl.obolibrary.org/obo/MONDO_0016556 | http://purl.obolibrary.org/obo/MONDO_0015792 |
genetic transient congenital hypothyroidism | http://purl.obolibrary.org/obo/MONDO_0044331 | http://purl.obolibrary.org/obo/MONDO_0016556 |
hypothyroidism, congenital, nongoitrous | http://purl.obolibrary.org/obo/MONDO_0000045 | http://purl.obolibrary.org/obo/MONDO_0018612 |
thyroid nodule | http://www.ebi.ac.uk/efo/EFO_1001436 | http://www.ebi.ac.uk/efo/EFO_1000627 |
lingual thyroid | http://www.ebi.ac.uk/efo/EFO_1001803 | http://www.ebi.ac.uk/efo/EFO_1000627 |
Hyperthyroidism | http://www.ebi.ac.uk/efo/EFO_0009189 | http://www.ebi.ac.uk/efo/EFO_1000627 |
familial gestational hyperthyroidism | http://purl.obolibrary.org/obo/MONDO_0011309 | http://www.ebi.ac.uk/efo/EFO_0009189 |
thyroid crisis | http://www.ebi.ac.uk/efo/EFO_1001212 | http://www.ebi.ac.uk/efo/EFO_0009189 |
toxic diffuse goiter | http://purl.obolibrary.org/obo/MONDO_0001104 | http://www.ebi.ac.uk/efo/EFO_0009189 |
familial hyperthyroidism due to mutations in TSH receptor | http://purl.obolibrary.org/obo/MONDO_0012203 | http://www.ebi.ac.uk/efo/EFO_0009189 |
thyroiditis | http://purl.obolibrary.org/obo/MONDO_0004126 | http://www.ebi.ac.uk/efo/EFO_1000627 |
subacute thyroiditis | http://www.ebi.ac.uk/efo/EFO_1001194 | http://purl.obolibrary.org/obo/MONDO_0004126 |
suppurative thyroiditis | http://www.ebi.ac.uk/efo/EFO_1001431 | http://purl.obolibrary.org/obo/MONDO_0004126 |
euthyroid sick syndrome | http://www.ebi.ac.uk/efo/EFO_1000931 | http://www.ebi.ac.uk/efo/EFO_1000627 |
atrophy of thyroid | http://www.ebi.ac.uk/efo/EFO_1000827 | http://www.ebi.ac.uk/efo/EFO_1000627 |
familial hypocalciuric hypercalcemia | http://purl.obolibrary.org/obo/MONDO_0018458 | http://www.ebi.ac.uk/efo/EFO_0001379 |
familial hypocalciuric hypercalcemia 3 | http://purl.obolibrary.org/obo/MONDO_0010926 | http://purl.obolibrary.org/obo/MONDO_0018458 |
familial hypocalciuric hypercalcemia 2 | http://purl.obolibrary.org/obo/MONDO_0007792 | http://purl.obolibrary.org/obo/MONDO_0018458 |
familial hypocalciuric hypercalcemia 1 | http://purl.obolibrary.org/obo/MONDO_0007791 | http://purl.obolibrary.org/obo/MONDO_0018458 |
endocrine tuberculosis | http://www.ebi.ac.uk/efo/EFO_1000917 | http://www.ebi.ac.uk/efo/EFO_0001379 |
poisoning | http://www.ebi.ac.uk/efo/EFO_0008546 | http://www.ebi.ac.uk/efo/EFO_0000408 |
ciguatera poisoning | http://www.ebi.ac.uk/efo/EFO_1001291 | http://www.ebi.ac.uk/efo/EFO_0008546 |
heavy metal poisoning | http://www.ebi.ac.uk/efo/EFO_1001518 | http://www.ebi.ac.uk/efo/EFO_0008546 |
fluoride poisoning | http://www.ebi.ac.uk/efo/EFO_1001328 | http://www.ebi.ac.uk/efo/EFO_1001518 |
cadmium poisoning | http://www.ebi.ac.uk/efo/EFO_1001768 | http://www.ebi.ac.uk/efo/EFO_1001518 |
nervous system heavy metal poisoning | http://www.ebi.ac.uk/efo/EFO_1001815 | http://www.ebi.ac.uk/efo/EFO_1001518 |
mercury poisoning | http://www.ebi.ac.uk/efo/EFO_1001810 | http://www.ebi.ac.uk/efo/EFO_1001815 |
manganese poisoning | http://www.ebi.ac.uk/efo/EFO_1001808 | http://www.ebi.ac.uk/efo/EFO_1001815 |
Acrodynia | http://www.ebi.ac.uk/efo/EFO_1001756 | http://www.ebi.ac.uk/efo/EFO_0008546 |
delayed encephalopathy after acute carbon monoxide poisoning | http://www.ebi.ac.uk/efo/EFO_0005534 | http://www.ebi.ac.uk/efo/EFO_0008546 |
organophosphate poisoning | http://www.ebi.ac.uk/efo/EFO_0010581 | http://www.ebi.ac.uk/efo/EFO_0008546 |
intoxication | http://www.ebi.ac.uk/efo/EFO_0009574 | http://www.ebi.ac.uk/efo/EFO_0008546 |
acute disease | http://purl.obolibrary.org/obo/MONDO_0020683 | http://www.ebi.ac.uk/efo/EFO_0000408 |
acute hypotension | http://www.ebi.ac.uk/efo/EFO_0002497 | http://purl.obolibrary.org/obo/MONDO_0020683 |
acute conjunctivitis | http://purl.obolibrary.org/obo/MONDO_0001214 | http://purl.obolibrary.org/obo/MONDO_0020683 |
acute hemorrhagic conjunctivitis | http://www.ebi.ac.uk/efo/EFO_0007131 | http://purl.obolibrary.org/obo/MONDO_0001214 |
acute respiratory failure | http://purl.obolibrary.org/obo/MONDO_0001208 | http://purl.obolibrary.org/obo/MONDO_0020683 |
pulmonary edema | http://www.ebi.ac.uk/efo/EFO_1001134 | http://purl.obolibrary.org/obo/MONDO_0001208 |
high altitude pulmonary edema | http://www.ebi.ac.uk/efo/EFO_1002002 | http://www.ebi.ac.uk/efo/EFO_1001134 |
acute respiratory distress syndrome | http://www.ebi.ac.uk/efo/EFO_1000637 | http://purl.obolibrary.org/obo/MONDO_0001208 |
pediatric acute respiratory distress syndrome | http://purl.obolibrary.org/obo/MONDO_0100131 | http://www.ebi.ac.uk/efo/EFO_1000637 |
newborn respiratory distress syndrome | http://www.ebi.ac.uk/efo/EFO_1000644 | http://purl.obolibrary.org/obo/MONDO_0100131 |
adult acute respiratory distress syndrome | http://purl.obolibrary.org/obo/MONDO_0100130 | http://www.ebi.ac.uk/efo/EFO_1000637 |
encephalitis | http://purl.obolibrary.org/obo/MONDO_0019956 | http://purl.obolibrary.org/obo/MONDO_0020683 |
postinfectious encephalitis | http://purl.obolibrary.org/obo/MONDO_0020068 | http://purl.obolibrary.org/obo/MONDO_0019956 |
herpes simplex encephalitis, susceptibility to, 3 | http://purl.obolibrary.org/obo/MONDO_0013920 | http://purl.obolibrary.org/obo/MONDO_0020068 |
herpes simplex encephalitis, susceptibility to, 4 | http://purl.obolibrary.org/obo/MONDO_0013921 | http://purl.obolibrary.org/obo/MONDO_0020068 |
rubella encephalitis | http://purl.obolibrary.org/obo/MONDO_0020648 | http://purl.obolibrary.org/obo/MONDO_0020068 |
progressive rubella panencephalitis | http://purl.obolibrary.org/obo/MONDO_0019386 | http://purl.obolibrary.org/obo/MONDO_0020648 |
acute disseminated encephalomyelitis | http://www.ebi.ac.uk/efo/EFO_0007130 | http://purl.obolibrary.org/obo/MONDO_0020068 |
acute hemorrhagic leukoencephalitis | http://www.ebi.ac.uk/efo/EFO_0007132 | http://www.ebi.ac.uk/efo/EFO_0007130 |
chronic encephalitis | http://purl.obolibrary.org/obo/MONDO_0020069 | http://purl.obolibrary.org/obo/MONDO_0019956 |
subacute sclerosing panencephalitis | http://www.ebi.ac.uk/efo/EFO_0007502 | http://purl.obolibrary.org/obo/MONDO_0020069 |
noninfective encephalitis | http://www.ebi.ac.uk/efo/EFO_0020926 | http://purl.obolibrary.org/obo/MONDO_0019956 |
viral encephalitis | http://www.ebi.ac.uk/efo/EFO_0007538 | http://purl.obolibrary.org/obo/MONDO_0019956 |
Encephalitis, Tick-Borne | http://www.ebi.ac.uk/efo/EFO_1001309 | http://www.ebi.ac.uk/efo/EFO_0007538 |
acute hemorrhagic encephalitis | http://purl.obolibrary.org/obo/MONDO_0003337 | http://www.ebi.ac.uk/efo/EFO_0007538 |
mosquito-borne viral encephalitis | http://purl.obolibrary.org/obo/MONDO_0020601 | http://www.ebi.ac.uk/efo/EFO_0007538 |
St. Louis encephalitis | http://www.ebi.ac.uk/efo/EFO_0007495 | http://purl.obolibrary.org/obo/MONDO_0020601 |
Western equine encephalitis | http://www.ebi.ac.uk/efo/EFO_0007546 | http://purl.obolibrary.org/obo/MONDO_0020601 |
West Nile encephalitis | http://www.ebi.ac.uk/efo/EFO_0007545 | http://purl.obolibrary.org/obo/MONDO_0020601 |
Japanese encephalitis | http://www.ebi.ac.uk/efo/EFO_0007332 | http://purl.obolibrary.org/obo/MONDO_0020601 |
herpes simplex encephalitis | http://purl.obolibrary.org/obo/MONDO_0012521 | http://www.ebi.ac.uk/efo/EFO_0007538 |
Eastern equine encephalitis | http://www.ebi.ac.uk/efo/EFO_0007242 | http://www.ebi.ac.uk/efo/EFO_0007538 |
Colorado tick fever | http://www.ebi.ac.uk/efo/EFO_0007213 | http://www.ebi.ac.uk/efo/EFO_0007538 |
meningoencephalitis | http://www.ebi.ac.uk/efo/EFO_0007364 | http://purl.obolibrary.org/obo/MONDO_0019956 |
Lupus Vasculitis, Central Nervous System | http://www.ebi.ac.uk/efo/EFO_1001363 | http://www.ebi.ac.uk/efo/EFO_0007364 |
Kluver-Bucy syndrome | http://www.ebi.ac.uk/efo/EFO_0007335 | http://purl.obolibrary.org/obo/MONDO_0019956 |
progressive multifocal leukoencephalopathy | http://www.ebi.ac.uk/efo/EFO_0007455 | http://purl.obolibrary.org/obo/MONDO_0019956 |
acute myocardial infarction | http://www.ebi.ac.uk/efo/EFO_0008583 | http://purl.obolibrary.org/obo/MONDO_0020683 |
infectious encephalitis | http://purl.obolibrary.org/obo/MONDO_0020067 | http://purl.obolibrary.org/obo/MONDO_0020683 |
sudden hearing loss disorder | http://purl.obolibrary.org/obo/MONDO_0020677 | http://purl.obolibrary.org/obo/MONDO_0020683 |
non-allergic anaphylaxis | http://www.ebi.ac.uk/efo/EFO_0020918 | http://purl.obolibrary.org/obo/MONDO_0020683 |
acute dacryoadenitis | http://purl.obolibrary.org/obo/MONDO_0004812 | http://purl.obolibrary.org/obo/MONDO_0020683 |
acute kidney failure | http://purl.obolibrary.org/obo/MONDO_0002492 | http://purl.obolibrary.org/obo/MONDO_0020683 |
acute kidney tubular necrosis | http://www.ebi.ac.uk/efo/EFO_1000794 | http://purl.obolibrary.org/obo/MONDO_0002492 |
encephalopathy, acute, infection-induced | http://purl.obolibrary.org/obo/MONDO_0000166 | http://purl.obolibrary.org/obo/MONDO_0020683 |
familial acute necrotizing encephalopathy | http://purl.obolibrary.org/obo/MONDO_0011953 | http://purl.obolibrary.org/obo/MONDO_0000166 |
encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 | http://purl.obolibrary.org/obo/MONDO_0054754 | http://purl.obolibrary.org/obo/MONDO_0000166 |
acute diarrhea | http://purl.obolibrary.org/obo/MONDO_0000257 | http://purl.obolibrary.org/obo/MONDO_0020683 |
dysentery | http://www.ebi.ac.uk/efo/EFO_1001869 | http://purl.obolibrary.org/obo/MONDO_0000257 |
protozoal dysentery | http://purl.obolibrary.org/obo/MONDO_0001955 | http://www.ebi.ac.uk/efo/EFO_1001869 |
amebic dysentery | http://purl.obolibrary.org/obo/MONDO_0024275 | http://purl.obolibrary.org/obo/MONDO_0001955 |
shigellosis | http://www.ebi.ac.uk/efo/EFO_0005585 | http://www.ebi.ac.uk/efo/EFO_1001869 |
acute neonatal citrullinemia type I | http://purl.obolibrary.org/obo/MONDO_0016600 | http://purl.obolibrary.org/obo/MONDO_0020683 |
acute laryngitis | http://purl.obolibrary.org/obo/MONDO_0004777 | http://purl.obolibrary.org/obo/MONDO_0020683 |
croup | http://www.ebi.ac.uk/efo/EFO_0007227 | http://purl.obolibrary.org/obo/MONDO_0004777 |
poliomyelitis | http://www.ebi.ac.uk/efo/EFO_0007450 | http://purl.obolibrary.org/obo/MONDO_0020683 |
paralytic poliomyelitis | http://purl.obolibrary.org/obo/MONDO_0000341 | http://www.ebi.ac.uk/efo/EFO_0007450 |
bulbar polio | http://www.ebi.ac.uk/efo/EFO_0007186 | http://purl.obolibrary.org/obo/MONDO_0000341 |
postpoliomyelitis syndrome | http://www.ebi.ac.uk/efo/EFO_0007454 | http://www.ebi.ac.uk/efo/EFO_0007450 |
acute pharyngitis | http://www.ebi.ac.uk/efo/EFO_0009657 | http://purl.obolibrary.org/obo/MONDO_0020683 |
head disorder | http://purl.obolibrary.org/obo/MONDO_0005042 | http://www.ebi.ac.uk/efo/EFO_0000408 |
mouth disease | http://www.ebi.ac.uk/efo/EFO_1001047 | http://purl.obolibrary.org/obo/MONDO_0005042 |
oral leukoedema | http://www.ebi.ac.uk/efo/EFO_1001075 | http://www.ebi.ac.uk/efo/EFO_1001047 |
Peri-Implantitis | http://www.ebi.ac.uk/efo/EFO_1001390 | http://www.ebi.ac.uk/efo/EFO_1001047 |
Periodontal Pocket | http://www.ebi.ac.uk/efo/EFO_1001393 | http://www.ebi.ac.uk/efo/EFO_1001047 |
tooth disease | http://www.ebi.ac.uk/efo/EFO_1001216 | http://www.ebi.ac.uk/efo/EFO_1001047 |
hereditary dentin defect | http://purl.obolibrary.org/obo/MONDO_0015668 | http://www.ebi.ac.uk/efo/EFO_1001216 |
dentin dysplasia | http://purl.obolibrary.org/obo/MONDO_0015613 | http://purl.obolibrary.org/obo/MONDO_0015668 |
dentin dysplasia type II | http://purl.obolibrary.org/obo/MONDO_0007437 | http://purl.obolibrary.org/obo/MONDO_0015613 |
dentin dysplasia type I | http://purl.obolibrary.org/obo/MONDO_0007436 | http://purl.obolibrary.org/obo/MONDO_0015613 |
atypical dentin dysplasia due to SMOC2 deficiency | http://purl.obolibrary.org/obo/MONDO_0017819 | http://purl.obolibrary.org/obo/MONDO_0007436 |
dentinogenesis imperfecta | http://purl.obolibrary.org/obo/MONDO_0018849 | http://purl.obolibrary.org/obo/MONDO_0015668 |
dentinogenesis imperfecta type 3 | http://purl.obolibrary.org/obo/MONDO_0007442 | http://purl.obolibrary.org/obo/MONDO_0018849 |
dentinogenesis imperfecta type 2 | http://purl.obolibrary.org/obo/MONDO_0007441 | http://purl.obolibrary.org/obo/MONDO_0018849 |
deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | http://purl.obolibrary.org/obo/MONDO_0011571 | http://purl.obolibrary.org/obo/MONDO_0007441 |
molar-incisor hypomineralization | http://www.ebi.ac.uk/efo/EFO_0005321 | http://www.ebi.ac.uk/efo/EFO_1001216 |
tooth agenesis | http://www.ebi.ac.uk/efo/EFO_0005410 | http://www.ebi.ac.uk/efo/EFO_1001216 |
Dental ankylosis | http://www.orpha.net/ORDO/Orphanet_1077 | http://www.ebi.ac.uk/efo/EFO_1001216 |
tooth hard tissue disease | http://purl.obolibrary.org/obo/MONDO_0002220 | http://www.ebi.ac.uk/efo/EFO_1001216 |
tooth ankylosis | http://purl.obolibrary.org/obo/MONDO_0008007 | http://purl.obolibrary.org/obo/MONDO_0002220 |
Dental enamel hypoplasia | http://www.ebi.ac.uk/efo/EFO_1001304 | http://purl.obolibrary.org/obo/MONDO_0002220 |
amelogenesis imperfecta | http://purl.obolibrary.org/obo/MONDO_0019507 | http://www.ebi.ac.uk/efo/EFO_1001304 |
amelogenesis imperfecta type 1 | http://purl.obolibrary.org/obo/MONDO_0015047 | http://purl.obolibrary.org/obo/MONDO_0019507 |
amelogenesis imperfecta, type ij | http://www.ebi.ac.uk/efo/EFO_0009302 | http://purl.obolibrary.org/obo/MONDO_0015047 |
amelogenesis imperfecta type 2 | http://purl.obolibrary.org/obo/MONDO_0015048 | http://purl.obolibrary.org/obo/MONDO_0019507 |
amelogenesis imperfecta hypomaturation type 2A4 | http://purl.obolibrary.org/obo/MONDO_0013906 | http://purl.obolibrary.org/obo/MONDO_0015048 |
hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | http://purl.obolibrary.org/obo/MONDO_0007093 | http://purl.obolibrary.org/obo/MONDO_0019507 |
amelogenesis imperfecta, type 3A | http://purl.obolibrary.org/obo/MONDO_0007538 | http://purl.obolibrary.org/obo/MONDO_0019507 |
dental caries | http://www.ebi.ac.uk/efo/EFO_0003819 | http://purl.obolibrary.org/obo/MONDO_0002220 |
pit and fissure surface dental caries | http://www.ebi.ac.uk/efo/EFO_0006338 | http://www.ebi.ac.uk/efo/EFO_0003819 |
smooth surface dental caries | http://www.ebi.ac.uk/efo/EFO_0006339 | http://www.ebi.ac.uk/efo/EFO_0003819 |
enamel caries | http://purl.obolibrary.org/obo/MONDO_0002233 | http://www.ebi.ac.uk/efo/EFO_0003819 |
root caries | http://www.ebi.ac.uk/efo/EFO_1001163 | http://purl.obolibrary.org/obo/MONDO_0002233 |
primary dental caries | http://www.ebi.ac.uk/efo/EFO_0600095 | http://www.ebi.ac.uk/efo/EFO_0003819 |
permanent dental caries | http://www.ebi.ac.uk/efo/EFO_0600096 | http://www.ebi.ac.uk/efo/EFO_0003819 |
hypercementosis | http://www.ebi.ac.uk/efo/EFO_1000970 | http://purl.obolibrary.org/obo/MONDO_0002220 |
periodontal disorder | http://purl.obolibrary.org/obo/MONDO_0002635 | http://www.ebi.ac.uk/efo/EFO_1001216 |
periodontitis | http://www.ebi.ac.uk/efo/EFO_0000649 | http://purl.obolibrary.org/obo/MONDO_0002635 |
pericoronitis | http://www.ebi.ac.uk/efo/EFO_1001098 | http://www.ebi.ac.uk/efo/EFO_0000649 |
Periapical Periodontitis | http://www.ebi.ac.uk/efo/EFO_1001391 | http://www.ebi.ac.uk/efo/EFO_0000649 |
periapical granuloma | http://www.ebi.ac.uk/efo/EFO_1001096 | http://www.ebi.ac.uk/efo/EFO_1001391 |
suppurative periapical periodontitis | http://www.ebi.ac.uk/efo/EFO_1001202 | http://www.ebi.ac.uk/efo/EFO_1001391 |
chronic periodontitis | http://www.ebi.ac.uk/efo/EFO_0006343 | http://www.ebi.ac.uk/efo/EFO_0000649 |
aggressive periodontitis | http://www.ebi.ac.uk/efo/EFO_0006342 | http://www.ebi.ac.uk/efo/EFO_0006343 |
gingival disease | http://www.ebi.ac.uk/efo/EFO_0009670 | http://purl.obolibrary.org/obo/MONDO_0002635 |
gingivitis | http://purl.obolibrary.org/obo/MONDO_0002508 | http://www.ebi.ac.uk/efo/EFO_0009670 |
necrotizing ulcerative gingivitis | http://www.ebi.ac.uk/efo/EFO_1001058 | http://purl.obolibrary.org/obo/MONDO_0002508 |
chronic gingivitis | http://purl.obolibrary.org/obo/MONDO_0020782 | http://purl.obolibrary.org/obo/MONDO_0002508 |
gingival overgrowth | http://purl.obolibrary.org/obo/MONDO_0002507 | http://www.ebi.ac.uk/efo/EFO_0009670 |
anodontia | http://purl.obolibrary.org/obo/MONDO_0008797 | http://www.ebi.ac.uk/efo/EFO_1001216 |
dental pulp disease | http://www.ebi.ac.uk/efo/EFO_0009540 | http://www.ebi.ac.uk/efo/EFO_1001216 |
pulpitis | http://www.ebi.ac.uk/efo/EFO_1001139 | http://www.ebi.ac.uk/efo/EFO_0009540 |
dental pulp exposure | http://www.ebi.ac.uk/efo/EFO_1001782 | http://www.ebi.ac.uk/efo/EFO_0009540 |
dental fluorosis | http://www.ebi.ac.uk/efo/EFO_1000892 | http://www.ebi.ac.uk/efo/EFO_1001216 |
tongue disorder | http://purl.obolibrary.org/obo/MONDO_0001165 | http://www.ebi.ac.uk/efo/EFO_1001047 |
glossodynia | http://purl.obolibrary.org/obo/MONDO_0043237 | http://purl.obolibrary.org/obo/MONDO_0001165 |
glossitis | http://www.ebi.ac.uk/efo/EFO_1000951 | http://purl.obolibrary.org/obo/MONDO_0001165 |
atrophic glossitis | http://purl.obolibrary.org/obo/MONDO_0001989 | http://www.ebi.ac.uk/efo/EFO_1000951 |
geographic tongue | http://www.ebi.ac.uk/efo/EFO_0007283 | http://purl.obolibrary.org/obo/MONDO_0001989 |
hairy tongue | http://www.ebi.ac.uk/efo/EFO_1000957 | http://purl.obolibrary.org/obo/MONDO_0001165 |
mouth mucosa disorder | http://purl.obolibrary.org/obo/MONDO_0044992 | http://www.ebi.ac.uk/efo/EFO_1001047 |
stomatitis | http://www.ebi.ac.uk/efo/EFO_0009688 | http://purl.obolibrary.org/obo/MONDO_0044992 |
chemotherapy-induced oral mucositis | http://www.ebi.ac.uk/efo/EFO_0006313 | http://www.ebi.ac.uk/efo/EFO_0009688 |
aphthous ulcer | http://www.ebi.ac.uk/efo/EFO_0003938 | http://www.ebi.ac.uk/efo/EFO_0009688 |
noma | http://www.ebi.ac.uk/efo/EFO_1001063 | http://www.ebi.ac.uk/efo/EFO_0003938 |
ulcerative stomatitis | http://purl.obolibrary.org/obo/MONDO_0004848 | http://www.ebi.ac.uk/efo/EFO_0009688 |
Herpes simplex virus gingivostomatitis | http://www.ebi.ac.uk/efo/EFO_0007307 | http://www.ebi.ac.uk/efo/EFO_0009688 |
denture stomatitis | http://www.ebi.ac.uk/efo/EFO_1000893 | http://www.ebi.ac.uk/efo/EFO_0009688 |
salivary gland disease | http://www.ebi.ac.uk/efo/EFO_0008581 | http://www.ebi.ac.uk/efo/EFO_1001047 |
sialolithiasis | http://www.ebi.ac.uk/efo/EFO_1001180 | http://www.ebi.ac.uk/efo/EFO_0008581 |
sialadenitis | http://www.ebi.ac.uk/efo/EFO_1001179 | http://www.ebi.ac.uk/efo/EFO_0008581 |
necrotizing sialometaplasia | http://www.ebi.ac.uk/efo/EFO_1001057 | http://www.ebi.ac.uk/efo/EFO_0008581 |
submandibular gland disorder | http://purl.obolibrary.org/obo/MONDO_0001597 | http://www.ebi.ac.uk/efo/EFO_0008581 |
salivary gland neoplasm | http://www.ebi.ac.uk/efo/EFO_0003826 | http://www.ebi.ac.uk/efo/EFO_0008581 |
Benign Salivary Gland Myoepithelioma | http://www.ebi.ac.uk/efo/EFO_1000119 | http://www.ebi.ac.uk/efo/EFO_0003826 |
Parotid Gland Pleomorphic Adenoma | http://www.ebi.ac.uk/efo/EFO_1000462 | http://www.ebi.ac.uk/efo/EFO_0003826 |
Salivary Gland Pleomorphic Adenoma | http://www.ebi.ac.uk/efo/EFO_1000518 | http://www.ebi.ac.uk/efo/EFO_0003826 |
Sjogren syndrome | http://www.ebi.ac.uk/efo/EFO_0000699 | http://www.ebi.ac.uk/efo/EFO_0008581 |
parotid disease | http://www.ebi.ac.uk/efo/EFO_0007422 | http://www.ebi.ac.uk/efo/EFO_0008581 |
parotitis | http://www.ebi.ac.uk/efo/EFO_0007423 | http://www.ebi.ac.uk/efo/EFO_0007422 |
oral submucous fibrosis | http://www.ebi.ac.uk/efo/EFO_1001818 | http://www.ebi.ac.uk/efo/EFO_1001047 |
oral Crohn's disease | http://www.ebi.ac.uk/efo/EFO_0005625 | http://www.ebi.ac.uk/efo/EFO_1001047 |
lip disorder | http://purl.obolibrary.org/obo/MONDO_0004748 | http://www.ebi.ac.uk/efo/EFO_1001047 |
cheilitis | http://purl.obolibrary.org/obo/MONDO_0002102 | http://purl.obolibrary.org/obo/MONDO_0004748 |
Melkersson-Rosenthal syndrome | http://www.ebi.ac.uk/efo/EFO_1001039 | http://purl.obolibrary.org/obo/MONDO_0002102 |
maxillary sinusitis | http://www.ebi.ac.uk/efo/EFO_0007361 | http://www.ebi.ac.uk/efo/EFO_1001047 |
oral tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007407 | http://www.ebi.ac.uk/efo/EFO_1001047 |
oral candidiasis | http://www.ebi.ac.uk/efo/EFO_0007406 | http://www.ebi.ac.uk/efo/EFO_1001047 |
periapical tissue disease | http://www.ebi.ac.uk/efo/EFO_0010688 | http://www.ebi.ac.uk/efo/EFO_1001047 |
tooth-supporting structures disease | http://www.ebi.ac.uk/efo/EFO_0010693 | http://www.ebi.ac.uk/efo/EFO_1001047 |
jaw disease | http://www.ebi.ac.uk/efo/EFO_0009468 | http://www.ebi.ac.uk/efo/EFO_1001047 |
Ludwig's angina | http://www.ebi.ac.uk/efo/EFO_1000730 | http://www.ebi.ac.uk/efo/EFO_1001047 |
burning mouth syndrome | http://www.ebi.ac.uk/efo/EFO_1000850 | http://www.ebi.ac.uk/efo/EFO_1001047 |
disorder of ear | http://purl.obolibrary.org/obo/MONDO_0021205 | http://purl.obolibrary.org/obo/MONDO_0005042 |
middle ear disorder | http://purl.obolibrary.org/obo/MONDO_0003276 | http://purl.obolibrary.org/obo/MONDO_0021205 |
Otitis media | http://www.ebi.ac.uk/efo/EFO_0004992 | http://purl.obolibrary.org/obo/MONDO_0003276 |
chronic otitis media | http://purl.obolibrary.org/obo/MONDO_0021204 | http://www.ebi.ac.uk/efo/EFO_0004992 |
chronic non-suppurative otitis media | http://purl.obolibrary.org/obo/MONDO_0021206 | http://purl.obolibrary.org/obo/MONDO_0021204 |
otitis media with effusion | http://www.ebi.ac.uk/efo/EFO_0007415 | http://purl.obolibrary.org/obo/MONDO_0021206 |
non-suppurative otitis media | http://purl.obolibrary.org/obo/MONDO_0001212 | http://www.ebi.ac.uk/efo/EFO_0004992 |
suppurative otitis media | http://www.ebi.ac.uk/efo/EFO_0007503 | http://www.ebi.ac.uk/efo/EFO_0004992 |
otosalpingitis | http://purl.obolibrary.org/obo/MONDO_0002172 | http://www.ebi.ac.uk/efo/EFO_0004992 |
tympanic membrane disease | http://www.ebi.ac.uk/efo/EFO_0009570 | http://purl.obolibrary.org/obo/MONDO_0003276 |
eustachian tube disease | http://www.ebi.ac.uk/efo/EFO_0009667 | http://purl.obolibrary.org/obo/MONDO_0003276 |
ear infection | http://purl.obolibrary.org/obo/MONDO_0021666 | http://purl.obolibrary.org/obo/MONDO_0021205 |
infectious otitis interna | http://purl.obolibrary.org/obo/MONDO_0002812 | http://purl.obolibrary.org/obo/MONDO_0021666 |
geniculate herpes zoster | http://www.ebi.ac.uk/efo/EFO_0007281 | http://purl.obolibrary.org/obo/MONDO_0021666 |
otitis externa | http://www.ebi.ac.uk/efo/EFO_0009560 | http://purl.obolibrary.org/obo/MONDO_0021666 |
perichondritis of auricle | http://purl.obolibrary.org/obo/MONDO_0002246 | http://www.ebi.ac.uk/efo/EFO_0009560 |
inner ear disease | http://www.ebi.ac.uk/efo/EFO_0009672 | http://purl.obolibrary.org/obo/MONDO_0021205 |
otosclerosis | http://www.ebi.ac.uk/efo/EFO_0004213 | http://www.ebi.ac.uk/efo/EFO_0009672 |
enlarged vestibular aqueduct syndrome | http://purl.obolibrary.org/obo/MONDO_0023069 | http://www.ebi.ac.uk/efo/EFO_0009672 |
X-linked mixed hearing loss with perilymphatic gusher | http://purl.obolibrary.org/obo/MONDO_0010576 | http://www.ebi.ac.uk/efo/EFO_0009672 |
vestibular disease | http://www.ebi.ac.uk/efo/EFO_0009691 | http://www.ebi.ac.uk/efo/EFO_0009672 |
peripheral vertigo | http://purl.obolibrary.org/obo/MONDO_0004900 | http://www.ebi.ac.uk/efo/EFO_0009691 |
endolymphatic hydrops | http://www.ebi.ac.uk/efo/EFO_1000918 | http://purl.obolibrary.org/obo/MONDO_0004900 |
Meniere disease | http://www.ebi.ac.uk/efo/EFO_0006862 | http://www.ebi.ac.uk/efo/EFO_1000918 |
labyrinthitis | http://www.ebi.ac.uk/efo/EFO_0009604 | http://www.ebi.ac.uk/efo/EFO_0009672 |
external ear disease | http://www.ebi.ac.uk/efo/EFO_0009668 | http://purl.obolibrary.org/obo/MONDO_0021205 |
trochlear nerve disease | http://www.ebi.ac.uk/efo/EFO_1001220 | http://purl.obolibrary.org/obo/MONDO_0005042 |
fourth cranial nerve palsy | http://purl.obolibrary.org/obo/MONDO_0001146 | http://www.ebi.ac.uk/efo/EFO_1001220 |
congenital trochlear nerve palsy | http://purl.obolibrary.org/obo/MONDO_0020256 | http://purl.obolibrary.org/obo/MONDO_0001146 |
familial congenital palsy of trochlear nerve | http://purl.obolibrary.org/obo/MONDO_0007626 | http://purl.obolibrary.org/obo/MONDO_0020256 |
temporal arteritis | http://www.ebi.ac.uk/efo/EFO_1001209 | http://purl.obolibrary.org/obo/MONDO_0005042 |
third cranial nerve disorder | http://purl.obolibrary.org/obo/MONDO_0003546 | http://purl.obolibrary.org/obo/MONDO_0005042 |
oculomotor nerve paralysis | http://purl.obolibrary.org/obo/MONDO_0001309 | http://purl.obolibrary.org/obo/MONDO_0003546 |
nuclear oculomotor paralysis | http://purl.obolibrary.org/obo/MONDO_0015083 | http://purl.obolibrary.org/obo/MONDO_0001309 |
Tolosa-Hunt syndrome | http://purl.obolibrary.org/obo/MONDO_0018983 | http://purl.obolibrary.org/obo/MONDO_0015083 |
supranuclear oculomotor palsy | http://purl.obolibrary.org/obo/MONDO_0020257 | http://purl.obolibrary.org/obo/MONDO_0001309 |
progressive supranuclear palsy | http://purl.obolibrary.org/obo/MONDO_0019037 | http://purl.obolibrary.org/obo/MONDO_0020257 |
supranuclear palsy, progressive, 1 | http://purl.obolibrary.org/obo/MONDO_0010997 | http://purl.obolibrary.org/obo/MONDO_0019037 |
atypical progressive supranuclear palsy syndrome | http://purl.obolibrary.org/obo/MONDO_0020488 | http://purl.obolibrary.org/obo/MONDO_0019037 |
progressive supranuclear palsy-parkinsonism syndrome | http://purl.obolibrary.org/obo/MONDO_0009839 | http://purl.obolibrary.org/obo/MONDO_0020488 |
progressive supranuclear palsy-progressive non-fluent aphasia syndrome | http://purl.obolibrary.org/obo/MONDO_0016564 | http://purl.obolibrary.org/obo/MONDO_0020488 |
progressive supranuclear palsy-corticobasal syndrome | http://purl.obolibrary.org/obo/MONDO_0016563 | http://purl.obolibrary.org/obo/MONDO_0020488 |
progressive supranuclear palsy-pure akinesia with gait freezing syndrome | http://purl.obolibrary.org/obo/MONDO_0016562 | http://purl.obolibrary.org/obo/MONDO_0020488 |
Wilson disease | http://purl.obolibrary.org/obo/MONDO_0010200 | http://purl.obolibrary.org/obo/MONDO_0020257 |
vestibulocochlear nerve disorder | http://purl.obolibrary.org/obo/MONDO_0001563 | http://purl.obolibrary.org/obo/MONDO_0005042 |
vestibular neuronitis | http://www.ebi.ac.uk/efo/EFO_0007537 | http://purl.obolibrary.org/obo/MONDO_0001563 |
face disorder | http://purl.obolibrary.org/obo/MONDO_0044987 | http://purl.obolibrary.org/obo/MONDO_0005042 |
facial paralysis | http://purl.obolibrary.org/obo/MONDO_0001835 | http://purl.obolibrary.org/obo/MONDO_0044987 |
fatty acid hydroxylase-associated neurodegeneration | http://purl.obolibrary.org/obo/MONDO_0017999 | http://purl.obolibrary.org/obo/MONDO_0001835 |
hereditary spastic paraplegia 2 | http://purl.obolibrary.org/obo/MONDO_0010733 | http://purl.obolibrary.org/obo/MONDO_0001835 |
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | http://purl.obolibrary.org/obo/MONDO_0014209 | http://purl.obolibrary.org/obo/MONDO_0001835 |
Bell's palsy | http://www.ebi.ac.uk/efo/EFO_0007167 | http://purl.obolibrary.org/obo/MONDO_0001835 |
facial nerve palsy due to herpes zoster infection | http://purl.obolibrary.org/obo/MONDO_0017606 | http://www.ebi.ac.uk/efo/EFO_0007167 |
spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder | http://purl.obolibrary.org/obo/MONDO_0018550 | http://purl.obolibrary.org/obo/MONDO_0001835 |
SPOAN syndrome | http://purl.obolibrary.org/obo/MONDO_0012297 | http://purl.obolibrary.org/obo/MONDO_0018550 |
disorder of facial skeleton | http://purl.obolibrary.org/obo/MONDO_0023369 | http://purl.obolibrary.org/obo/MONDO_0044987 |
ethmoid sinusitis | http://www.ebi.ac.uk/efo/EFO_0007264 | http://purl.obolibrary.org/obo/MONDO_0023369 |
sphenoid sinusitis | http://www.ebi.ac.uk/efo/EFO_0007489 | http://purl.obolibrary.org/obo/MONDO_0023369 |
nasal disorder | http://purl.obolibrary.org/obo/MONDO_0002436 | http://purl.obolibrary.org/obo/MONDO_0044987 |
nasal cavity disorder | http://purl.obolibrary.org/obo/MONDO_0002232 | http://purl.obolibrary.org/obo/MONDO_0002436 |
rhinitis | http://www.ebi.ac.uk/efo/EFO_0008521 | http://purl.obolibrary.org/obo/MONDO_0002232 |
allergic rhinitis | http://www.ebi.ac.uk/efo/EFO_0005854 | http://www.ebi.ac.uk/efo/EFO_0008521 |
seasonal allergic rhinitis | http://www.ebi.ac.uk/efo/EFO_0003956 | http://www.ebi.ac.uk/efo/EFO_0005854 |
Rhinitis, Allergic, Perennial | http://www.ebi.ac.uk/efo/EFO_1001417 | http://www.ebi.ac.uk/efo/EFO_0005854 |
vasomotor rhinitis | http://www.ebi.ac.uk/efo/EFO_0007533 | http://www.ebi.ac.uk/efo/EFO_0005854 |
chronic rhinitis | http://purl.obolibrary.org/obo/MONDO_0004514 | http://www.ebi.ac.uk/efo/EFO_0008521 |
atrophic rhinitis | http://www.ebi.ac.uk/efo/EFO_0007159 | http://www.ebi.ac.uk/efo/EFO_0008521 |
non-allergic rhinitis | http://www.ebi.ac.uk/efo/EFO_0009364 | http://www.ebi.ac.uk/efo/EFO_0008521 |
paranasal sinus disease | http://www.ebi.ac.uk/efo/EFO_0009481 | http://purl.obolibrary.org/obo/MONDO_0002436 |
sinusitis | http://www.ebi.ac.uk/efo/EFO_0007486 | http://www.ebi.ac.uk/efo/EFO_0009481 |
chronic rhinosinusitis | http://www.ebi.ac.uk/efo/EFO_1000024 | http://www.ebi.ac.uk/efo/EFO_0007486 |
chronic rhinosinusitis without nasal polyps | http://www.ebi.ac.uk/efo/EFO_1002030 | http://www.ebi.ac.uk/efo/EFO_1000024 |
chronic rhinosinusitis with nasal polyps | http://www.ebi.ac.uk/efo/EFO_1002029 | http://www.ebi.ac.uk/efo/EFO_1000024 |
orofacial cleft | http://purl.obolibrary.org/obo/MONDO_0000358 | http://purl.obolibrary.org/obo/MONDO_0044987 |
disease of orbital region | http://www.ebi.ac.uk/efo/EFO_0009664 | http://purl.obolibrary.org/obo/MONDO_0044987 |
eye disease | http://www.ebi.ac.uk/efo/EFO_0003966 | http://www.ebi.ac.uk/efo/EFO_0009664 |
dyssegmental dysplasia-glaucoma syndrome | http://purl.obolibrary.org/obo/MONDO_0011110 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Rare genetic eye disease | http://www.orpha.net/ORDO/Orphanet_101435 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Genetic vitreous-retinal disease | http://www.orpha.net/ORDO/Orphanet_98657 | http://www.orpha.net/ORDO/Orphanet_101435 |
Disease predisposing to age-related macular degeneration | http://www.orpha.net/ORDO/Orphanet_98667 | http://www.orpha.net/ORDO/Orphanet_98657 |
Familial drusen | http://www.orpha.net/ORDO/Orphanet_75376 | http://www.orpha.net/ORDO/Orphanet_98667 |
Vitreoretinopathy | http://www.orpha.net/ORDO/Orphanet_98668 | http://www.orpha.net/ORDO/Orphanet_98657 |
Congenital vitreoretinal dysplasia | http://www.orpha.net/ORDO/Orphanet_98669 | http://www.orpha.net/ORDO/Orphanet_98668 |
Persistent hyperplastic primary vitreous | http://www.orpha.net/ORDO/Orphanet_91495 | http://www.orpha.net/ORDO/Orphanet_98669 |
Incontinentia pigmenti | http://www.orpha.net/ORDO/Orphanet_464 | http://www.orpha.net/ORDO/Orphanet_98669 |
Osteoporosis - pseudoglioma | http://www.orpha.net/ORDO/Orphanet_2788 | http://www.orpha.net/ORDO/Orphanet_98669 |
Trisomy 13 | http://www.orpha.net/ORDO/Orphanet_3378 | http://www.orpha.net/ORDO/Orphanet_98669 |
Vitreoretinal degeneration | http://www.orpha.net/ORDO/Orphanet_98670 | http://www.orpha.net/ORDO/Orphanet_98668 |
Snowflake vitreoretinal degeneration | http://www.orpha.net/ORDO/Orphanet_91496 | http://www.orpha.net/ORDO/Orphanet_98670 |
Familial exudative vitreoretinopathy | http://www.orpha.net/ORDO/Orphanet_891 | http://www.orpha.net/ORDO/Orphanet_98670 |
Autosomal dominant rhegmatogenous retinal detachment | http://www.orpha.net/ORDO/Orphanet_209867 | http://www.orpha.net/ORDO/Orphanet_98670 |
Autosomal dominant vitreoretinochoroidopathy | http://www.orpha.net/ORDO/Orphanet_3086 | http://www.orpha.net/ORDO/Orphanet_98670 |
proliferative vitreoretinopathy | http://www.ebi.ac.uk/efo/EFO_1001129 | http://www.orpha.net/ORDO/Orphanet_98668 |
vitreous detachment | http://www.ebi.ac.uk/efo/EFO_1001238 | http://www.orpha.net/ORDO/Orphanet_98668 |
Color-vision disease | http://www.orpha.net/ORDO/Orphanet_98658 | http://www.orpha.net/ORDO/Orphanet_98657 |
Tritanopia | http://www.orpha.net/ORDO/Orphanet_88629 | http://www.orpha.net/ORDO/Orphanet_98658 |
Achromatopsia | http://www.orpha.net/ORDO/Orphanet_49382 | http://www.orpha.net/ORDO/Orphanet_98658 |
red-green color blindness | http://www.ebi.ac.uk/efo/EFO_0005581 | http://www.orpha.net/ORDO/Orphanet_98658 |
red color blindness | http://www.ebi.ac.uk/efo/EFO_0005580 | http://www.orpha.net/ORDO/Orphanet_98658 |
Blue cone monochromatism | http://www.orpha.net/ORDO/Orphanet_16 | http://www.orpha.net/ORDO/Orphanet_98658 |
Retinal dystrophy | http://www.orpha.net/ORDO/Orphanet_71862 | http://www.orpha.net/ORDO/Orphanet_98657 |
Helicoid peripapillary chorioretinal degeneration | http://www.orpha.net/ORDO/Orphanet_86813 | http://www.orpha.net/ORDO/Orphanet_71862 |
Genetic macular dystrophy | http://www.orpha.net/ORDO/Orphanet_98664 | http://www.orpha.net/ORDO/Orphanet_71862 |
Unclassified primitive or secondary maculopathy | http://www.orpha.net/ORDO/Orphanet_98666 | http://www.orpha.net/ORDO/Orphanet_98664 |
Sorsby's fundus dystrophy | http://www.orpha.net/ORDO/Orphanet_59181 | http://www.orpha.net/ORDO/Orphanet_98666 |
Foveal hypoplasia - presenile cataract | http://www.orpha.net/ORDO/Orphanet_2253 | http://www.orpha.net/ORDO/Orphanet_98666 |
Zellweger syndrome | http://www.orpha.net/ORDO/Orphanet_912 | http://www.orpha.net/ORDO/Orphanet_98666 |
Sjögren-Larsson syndrome | http://www.orpha.net/ORDO/Orphanet_816 | http://www.orpha.net/ORDO/Orphanet_98666 |
Primary hyperoxaluria | http://www.orpha.net/ORDO/Orphanet_416 | http://www.orpha.net/ORDO/Orphanet_98666 |
Primary hyperoxaluria type 1 | http://www.orpha.net/ORDO/Orphanet_93598 | http://www.orpha.net/ORDO/Orphanet_416 |
Primary hyperoxaluria type 2 | http://www.orpha.net/ORDO/Orphanet_93599 | http://www.orpha.net/ORDO/Orphanet_416 |
Primary hyperoxaluria type 3 | http://www.orpha.net/ORDO/Orphanet_93600 | http://www.orpha.net/ORDO/Orphanet_416 |
Metachromatic leukodystrophy | http://www.orpha.net/ORDO/Orphanet_512 | http://www.orpha.net/ORDO/Orphanet_98666 |
Metachromatic leukodystrophy, juvenile form | http://www.orpha.net/ORDO/Orphanet_309263 | http://www.orpha.net/ORDO/Orphanet_512 |
Metachromatic leukodystrophy, late infantile form | http://www.orpha.net/ORDO/Orphanet_309256 | http://www.orpha.net/ORDO/Orphanet_512 |
Metachromatic leukodystrophy, adult form | http://www.orpha.net/ORDO/Orphanet_309271 | http://www.orpha.net/ORDO/Orphanet_512 |
Mucolipidosis type IV | http://www.orpha.net/ORDO/Orphanet_578 | http://www.orpha.net/ORDO/Orphanet_98666 |
Cystinosis | http://www.orpha.net/ORDO/Orphanet_213 | http://www.orpha.net/ORDO/Orphanet_98666 |
Juvenile nephropathic cystinosis | http://www.ebi.ac.uk/efo/EFO_0009049 | http://www.orpha.net/ORDO/Orphanet_213 |
Neuronal ceroid lipofuscinosis | http://www.orpha.net/ORDO/Orphanet_216 | http://www.orpha.net/ORDO/Orphanet_98666 |
Parkinsonism due to ATP13A2 deficiency | http://www.orpha.net/ORDO/Orphanet_314632 | http://www.orpha.net/ORDO/Orphanet_216 |
Congenital neuronal ceroid lipofuscinosis | http://www.orpha.net/ORDO/Orphanet_168486 | http://www.orpha.net/ORDO/Orphanet_216 |
CLN10 disease | http://www.orpha.net/ORDO/Orphanet_228337 | http://www.orpha.net/ORDO/Orphanet_168486 |
Late infantile neuronal ceroid lipofuscinosis | http://www.orpha.net/ORDO/Orphanet_168491 | http://www.orpha.net/ORDO/Orphanet_216 |
CLN7 disease | http://www.orpha.net/ORDO/Orphanet_228366 | http://www.orpha.net/ORDO/Orphanet_168491 |
CLN2 disease | http://www.orpha.net/ORDO/Orphanet_228349 | http://www.orpha.net/ORDO/Orphanet_168491 |
CLN8 disease | http://www.orpha.net/ORDO/Orphanet_228354 | http://www.orpha.net/ORDO/Orphanet_168491 |
CLN6 disease | http://www.orpha.net/ORDO/Orphanet_228363 | http://www.orpha.net/ORDO/Orphanet_168491 |
CLN5 disease | http://www.orpha.net/ORDO/Orphanet_228360 | http://www.orpha.net/ORDO/Orphanet_168491 |
CLN1 disease | http://www.orpha.net/ORDO/Orphanet_228329 | http://www.orpha.net/ORDO/Orphanet_168491 |
Progressive myoclonic epilepsy type 3 | http://www.orpha.net/ORDO/Orphanet_263516 | http://www.orpha.net/ORDO/Orphanet_216 |
neuronal ceroid-lipofuscinosis, dominant/recessive | http://www.ebi.ac.uk/efo/EFO_0020039 | http://www.orpha.net/ORDO/Orphanet_216 |
Adult neuronal ceroid lipofuscinosis | http://www.orpha.net/ORDO/Orphanet_79262 | http://www.orpha.net/ORDO/Orphanet_216 |
CLN11 disease | http://www.orpha.net/ORDO/Orphanet_314629 | http://www.orpha.net/ORDO/Orphanet_79262 |
CLN4B disease | http://www.orpha.net/ORDO/Orphanet_228343 | http://www.orpha.net/ORDO/Orphanet_79262 |
CLN4A disease | http://www.orpha.net/ORDO/Orphanet_228340 | http://www.orpha.net/ORDO/Orphanet_79262 |
CLN13 disease | http://www.orpha.net/ORDO/Orphanet_352709 | http://www.orpha.net/ORDO/Orphanet_79262 |
Infantile neuronal ceroid lipofuscinosis | http://www.orpha.net/ORDO/Orphanet_79263 | http://www.orpha.net/ORDO/Orphanet_216 |
Juvenile neuronal ceroid lipofuscinosis | http://www.orpha.net/ORDO/Orphanet_79264 | http://www.orpha.net/ORDO/Orphanet_216 |
CLN3 disease | http://www.orpha.net/ORDO/Orphanet_228346 | http://www.orpha.net/ORDO/Orphanet_79264 |
CLN9 disease | http://www.orpha.net/ORDO/Orphanet_228357 | http://www.orpha.net/ORDO/Orphanet_79264 |
Progressive epilepsy - intellectual disability, Finnish type | http://www.orpha.net/ORDO/Orphanet_1947 | http://www.orpha.net/ORDO/Orphanet_216 |
Galactosialidosis | http://www.orpha.net/ORDO/Orphanet_351 | http://www.orpha.net/ORDO/Orphanet_98666 |
Cystoid macular dystrophy | http://www.orpha.net/ORDO/Orphanet_75381 | http://www.orpha.net/ORDO/Orphanet_98666 |
Hermansky-Pudlak syndrome with neutropenia | http://www.orpha.net/ORDO/Orphanet_183678 | http://www.orpha.net/ORDO/Orphanet_98666 |
Pontocerebellar hypoplasia type 3 | http://www.orpha.net/ORDO/Orphanet_97249 | http://www.orpha.net/ORDO/Orphanet_98666 |
Albers-Schönberg osteopetrosis | http://www.orpha.net/ORDO/Orphanet_53 | http://www.orpha.net/ORDO/Orphanet_98666 |
Hypotrichosis with juvenile macular degeneration | http://www.orpha.net/ORDO/Orphanet_1573 | http://www.orpha.net/ORDO/Orphanet_98666 |
Cone rod dystrophy | http://www.orpha.net/ORDO/Orphanet_1872 | http://www.orpha.net/ORDO/Orphanet_98666 |
autosomal recessive cone rod dystrophy | http://www.ebi.ac.uk/efo/EFO_0020029 | http://www.orpha.net/ORDO/Orphanet_1872 |
Occult macular dystrophy | http://www.orpha.net/ORDO/Orphanet_247834 | http://www.orpha.net/ORDO/Orphanet_98664 |
Familial flecked retinopathy | http://www.orpha.net/ORDO/Orphanet_227786 | http://www.orpha.net/ORDO/Orphanet_98664 |
Retinitis punctata albescens | http://www.orpha.net/ORDO/Orphanet_52427 | http://www.orpha.net/ORDO/Orphanet_227786 |
Fundus albipunctatus | http://www.orpha.net/ORDO/Orphanet_227796 | http://www.orpha.net/ORDO/Orphanet_227786 |
Bietti crystalline dystrophy | http://www.orpha.net/ORDO/Orphanet_41751 | http://www.orpha.net/ORDO/Orphanet_227786 |
Best vitelliform macular dystrophy | http://www.orpha.net/ORDO/Orphanet_1243 | http://www.orpha.net/ORDO/Orphanet_98664 |
Patterned dystrophy of the retinal pigment epithelium | http://www.orpha.net/ORDO/Orphanet_63454 | http://www.orpha.net/ORDO/Orphanet_98664 |
Butterfly-shaped pigment dystrophy | http://www.orpha.net/ORDO/Orphanet_99001 | http://www.orpha.net/ORDO/Orphanet_63454 |
Fundus pulverulentus | http://www.orpha.net/ORDO/Orphanet_99004 | http://www.orpha.net/ORDO/Orphanet_63454 |
Reticular dystrophy of the retinal pigment epithelium | http://www.orpha.net/ORDO/Orphanet_99002 | http://www.orpha.net/ORDO/Orphanet_63454 |
Multifocal pattern dystrophy simulating fundus flavimaculatus | http://www.orpha.net/ORDO/Orphanet_99003 | http://www.orpha.net/ORDO/Orphanet_63454 |
Adult-onset foveomacular vitelliform dystrophy | http://www.orpha.net/ORDO/Orphanet_99000 | http://www.orpha.net/ORDO/Orphanet_98664 |
Benign concentric annular macular dystrophy | http://www.orpha.net/ORDO/Orphanet_251287 | http://www.orpha.net/ORDO/Orphanet_98664 |
Retinal macular dystrophy type 2 | http://www.orpha.net/ORDO/Orphanet_319640 | http://www.orpha.net/ORDO/Orphanet_98664 |
Progressive cone dystrophy | http://www.orpha.net/ORDO/Orphanet_1871 | http://www.orpha.net/ORDO/Orphanet_98664 |
Syndromic retinitis pigmentosa | http://www.orpha.net/ORDO/Orphanet_98661 | http://www.orpha.net/ORDO/Orphanet_71862 |
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus | http://www.orpha.net/ORDO/Orphanet_2579 | http://www.orpha.net/ORDO/Orphanet_98661 |
Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome | http://www.orpha.net/ORDO/Orphanet_314572 | http://www.orpha.net/ORDO/Orphanet_98661 |
Primary ciliary dyskinesia - retinitis pigmentosa | http://www.orpha.net/ORDO/Orphanet_247522 | http://www.orpha.net/ORDO/Orphanet_98661 |
Oculotrichodysplasia | http://www.orpha.net/ORDO/Orphanet_2718 | http://www.orpha.net/ORDO/Orphanet_98661 |
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa | http://www.orpha.net/ORDO/Orphanet_2653 | http://www.orpha.net/ORDO/Orphanet_98661 |
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract | http://www.orpha.net/ORDO/Orphanet_171848 | http://www.orpha.net/ORDO/Orphanet_98661 |
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism | http://www.orpha.net/ORDO/Orphanet_3085 | http://www.orpha.net/ORDO/Orphanet_98661 |
Spastic tetraplegia - retinitis pigmentosa - intellectual disability | http://www.orpha.net/ORDO/Orphanet_3011 | http://www.orpha.net/ORDO/Orphanet_98661 |
Pantothenate kinase-associated neurodegeneration | http://www.orpha.net/ORDO/Orphanet_157850 | http://www.orpha.net/ORDO/Orphanet_98661 |
Classic pantothenate kinase-associated neurodegeneration | http://www.orpha.net/ORDO/Orphanet_216866 | http://www.orpha.net/ORDO/Orphanet_157850 |
Atypical pantothenate kinase-associated neurodegeneration | http://www.orpha.net/ORDO/Orphanet_216873 | http://www.orpha.net/ORDO/Orphanet_157850 |
Cleft lip - retinopathy | http://www.orpha.net/ORDO/Orphanet_1995 | http://www.orpha.net/ORDO/Orphanet_98661 |
Unclassified familial retinal dystrophy | http://www.orpha.net/ORDO/Orphanet_98662 | http://www.orpha.net/ORDO/Orphanet_71862 |
Gyrate atrophy of choroid and retina | http://www.orpha.net/ORDO/Orphanet_414 | http://www.orpha.net/ORDO/Orphanet_98662 |
Congenital stationary night blindness | http://www.orpha.net/ORDO/Orphanet_215 | http://www.orpha.net/ORDO/Orphanet_98662 |
autosomal recessive congenital stationary night blindness | http://www.ebi.ac.uk/efo/EFO_0020033 | http://www.orpha.net/ORDO/Orphanet_215 |
Choroideremia | http://www.orpha.net/ORDO/Orphanet_180 | http://www.orpha.net/ORDO/Orphanet_98662 |
Choroideremia - hypopituitarism | http://www.orpha.net/ORDO/Orphanet_1434 | http://www.orpha.net/ORDO/Orphanet_98662 |
Retinal vasculopathy and cerebral leukodystrophy | http://www.orpha.net/ORDO/Orphanet_247691 | http://www.orpha.net/ORDO/Orphanet_71862 |
Cerebroretinal vasculopathy | http://www.orpha.net/ORDO/Orphanet_3421 | http://www.orpha.net/ORDO/Orphanet_247691 |
Hereditary vascular retinopathy | http://www.orpha.net/ORDO/Orphanet_71291 | http://www.orpha.net/ORDO/Orphanet_247691 |
HERNS syndrome | http://www.orpha.net/ORDO/Orphanet_63261 | http://www.orpha.net/ORDO/Orphanet_247691 |
Ã…land Islands eye disease | http://www.orpha.net/ORDO/Orphanet_178333 | http://www.orpha.net/ORDO/Orphanet_71862 |
Infantile cerebellar-retinal degeneration | http://www.orpha.net/ORDO/Orphanet_313850 | http://www.orpha.net/ORDO/Orphanet_71862 |
Retinitis pigmentosa | http://www.orpha.net/ORDO/Orphanet_791 | http://www.orpha.net/ORDO/Orphanet_71862 |
autosomal recessive retinitis pigmentosa | http://www.ebi.ac.uk/efo/EFO_0020026 | http://www.orpha.net/ORDO/Orphanet_791 |
autosomal dominant retinitis pigmentosa | http://www.ebi.ac.uk/efo/EFO_0020028 | http://www.orpha.net/ORDO/Orphanet_791 |
Autosomal recessive bestrophinopathy | http://www.orpha.net/ORDO/Orphanet_139455 | http://www.orpha.net/ORDO/Orphanet_71862 |
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome | http://www.orpha.net/ORDO/Orphanet_369970 | http://www.orpha.net/ORDO/Orphanet_71862 |
Severe early-childhood-onset retinal dystrophy | http://www.orpha.net/ORDO/Orphanet_364055 | http://www.orpha.net/ORDO/Orphanet_71862 |
Cone dystrophy with supernormal rod response | http://www.orpha.net/ORDO/Orphanet_209932 | http://www.orpha.net/ORDO/Orphanet_71862 |
Amaurosis - hypertrichosis | http://www.orpha.net/ORDO/Orphanet_1021 | http://www.orpha.net/ORDO/Orphanet_71862 |
Aceruloplasminemia | http://www.orpha.net/ORDO/Orphanet_48818 | http://www.orpha.net/ORDO/Orphanet_71862 |
Progressive bifocal chorioretinal atrophy | http://www.orpha.net/ORDO/Orphanet_75373 | http://www.orpha.net/ORDO/Orphanet_71862 |
Oligocone trichromacy | http://www.orpha.net/ORDO/Orphanet_75378 | http://www.orpha.net/ORDO/Orphanet_71862 |
Progressive retinal dystrophy due to retinol transport defect | http://www.orpha.net/ORDO/Orphanet_352718 | http://www.orpha.net/ORDO/Orphanet_71862 |
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | http://www.orpha.net/ORDO/Orphanet_397758 | http://www.orpha.net/ORDO/Orphanet_71862 |
Pigmented paravenous retinochoroidal atrophy | http://www.orpha.net/ORDO/Orphanet_251295 | http://www.orpha.net/ORDO/Orphanet_71862 |
Familial benign flecked retina | http://www.orpha.net/ORDO/Orphanet_363989 | http://www.orpha.net/ORDO/Orphanet_71862 |
Retinal degeneration - nanophthalmos - glaucoma | http://www.orpha.net/ORDO/Orphanet_1574 | http://www.orpha.net/ORDO/Orphanet_71862 |
Ectopia lentis - chorioretinal dystrophy - myopia | http://www.orpha.net/ORDO/Orphanet_1884 | http://www.orpha.net/ORDO/Orphanet_71862 |
Late-onset retinal degeneration | http://www.orpha.net/ORDO/Orphanet_67042 | http://www.orpha.net/ORDO/Orphanet_71862 |
Familial retinal arterial macroaneurysm | http://www.orpha.net/ORDO/Orphanet_284247 | http://www.orpha.net/ORDO/Orphanet_98657 |
Bradyopsia | http://www.orpha.net/ORDO/Orphanet_75374 | http://www.orpha.net/ORDO/Orphanet_98657 |
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome | http://www.orpha.net/ORDO/Orphanet_397618 | http://www.orpha.net/ORDO/Orphanet_98657 |
Rare disease with glaucoma as a major feature | http://www.orpha.net/ORDO/Orphanet_98638 | http://www.orpha.net/ORDO/Orphanet_101435 |
Glaucoma - sleep apnea | http://www.orpha.net/ORDO/Orphanet_2085 | http://www.orpha.net/ORDO/Orphanet_98638 |
Megalocornea-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_2479 | http://www.orpha.net/ORDO/Orphanet_98638 |
Phakomatosis pigmentovascularis | http://www.orpha.net/ORDO/Orphanet_2875 | http://www.orpha.net/ORDO/Orphanet_98638 |
Phakomatosis cesioflammea | http://www.orpha.net/ORDO/Orphanet_79483 | http://www.orpha.net/ORDO/Orphanet_2875 |
Phakomatosis cesiomarmorata | http://www.orpha.net/ORDO/Orphanet_79484 | http://www.orpha.net/ORDO/Orphanet_2875 |
Phakomatosis spilorosea | http://www.orpha.net/ORDO/Orphanet_79485 | http://www.orpha.net/ORDO/Orphanet_2875 |
Oculocerebrorenal syndrome | http://www.orpha.net/ORDO/Orphanet_534 | http://www.orpha.net/ORDO/Orphanet_98638 |
Classical homocystinuria | http://www.orpha.net/ORDO/Orphanet_394 | http://www.orpha.net/ORDO/Orphanet_98638 |
Aniridia - cerebellar ataxia - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1065 | http://www.orpha.net/ORDO/Orphanet_98638 |
Mucopolysaccharidosis | http://www.orpha.net/ORDO/Orphanet_79213 | http://www.orpha.net/ORDO/Orphanet_98638 |
Mucopolysaccharidosis type 2 | http://www.orpha.net/ORDO/Orphanet_580 | http://www.orpha.net/ORDO/Orphanet_79213 |
Mucopolysaccharidosis type 2, severe form | http://www.orpha.net/ORDO/Orphanet_217085 | http://www.orpha.net/ORDO/Orphanet_580 |
Mucopolysaccharidosis type 2, attenuated form | http://www.orpha.net/ORDO/Orphanet_217093 | http://www.orpha.net/ORDO/Orphanet_580 |
Mucopolysaccharidosis type 3 | http://www.orpha.net/ORDO/Orphanet_581 | http://www.orpha.net/ORDO/Orphanet_79213 |
Mucopolysaccharidosis type 4 | http://www.orpha.net/ORDO/Orphanet_582 | http://www.orpha.net/ORDO/Orphanet_79213 |
Mucopolysaccharidosis type 4A | http://www.orpha.net/ORDO/Orphanet_309297 | http://www.orpha.net/ORDO/Orphanet_582 |
Mucopolysaccharidosis type 4B | http://www.orpha.net/ORDO/Orphanet_309310 | http://www.orpha.net/ORDO/Orphanet_582 |
Mucopolysaccharidosis type 6 | http://www.orpha.net/ORDO/Orphanet_583 | http://www.orpha.net/ORDO/Orphanet_79213 |
Mucopolysaccharidosis type 6, rapidly progressing | http://www.orpha.net/ORDO/Orphanet_276212 | http://www.orpha.net/ORDO/Orphanet_583 |
Mucopolysaccharidosis type 6, slowly progressing | http://www.orpha.net/ORDO/Orphanet_276223 | http://www.orpha.net/ORDO/Orphanet_583 |
Mucopolysaccharidosis type 7 | http://www.orpha.net/ORDO/Orphanet_584 | http://www.orpha.net/ORDO/Orphanet_79213 |
Mucopolysaccharidosis type 1 | http://www.orpha.net/ORDO/Orphanet_579 | http://www.orpha.net/ORDO/Orphanet_79213 |
Hyaluronidase deficiency | http://www.orpha.net/ORDO/Orphanet_67041 | http://www.orpha.net/ORDO/Orphanet_79213 |
Dyssegmental dysplasia - glaucoma | http://www.orpha.net/ORDO/Orphanet_1804 | http://www.orpha.net/ORDO/Orphanet_98638 |
Genodermatosis with ocular features | http://www.orpha.net/ORDO/Orphanet_98696 | http://www.orpha.net/ORDO/Orphanet_101435 |
Genetic keratinization disorder associated with ocular features | http://www.orpha.net/ORDO/Orphanet_98697 | http://www.orpha.net/ORDO/Orphanet_98696 |
Ichthyosis associated with ocular features | http://www.orpha.net/ORDO/Orphanet_98698 | http://www.orpha.net/ORDO/Orphanet_98697 |
Recessive X-linked ichthyosis | http://www.orpha.net/ORDO/Orphanet_461 | http://www.orpha.net/ORDO/Orphanet_98698 |
Lamellar ichthyosis | http://www.orpha.net/ORDO/Orphanet_313 | http://www.orpha.net/ORDO/Orphanet_98698 |
Onycho-patellar syndrome with eye involvement | http://www.orpha.net/ORDO/Orphanet_98704 | http://www.orpha.net/ORDO/Orphanet_98696 |
Nail-patella syndrome | http://www.orpha.net/ORDO/Orphanet_2614 | http://www.orpha.net/ORDO/Orphanet_98704 |
Disease with potential neoplastic degeneration associated with ocular features | http://www.orpha.net/ORDO/Orphanet_98703 | http://www.orpha.net/ORDO/Orphanet_98696 |
Pigmentation disorder with eye involvement | http://www.orpha.net/ORDO/Orphanet_98700 | http://www.orpha.net/ORDO/Orphanet_98696 |
Pigmentation disorder with eye involvement, excluding albinism | http://www.orpha.net/ORDO/Orphanet_98708 | http://www.orpha.net/ORDO/Orphanet_98700 |
Piebaldism | http://www.orpha.net/ORDO/Orphanet_2884 | http://www.orpha.net/ORDO/Orphanet_98708 |
Neurologic Waardenburg-Shah syndrome | http://www.orpha.net/ORDO/Orphanet_163746 | http://www.orpha.net/ORDO/Orphanet_98708 |
Neuroectodermal melanolysosomal disease | http://www.orpha.net/ORDO/Orphanet_33445 | http://www.orpha.net/ORDO/Orphanet_98708 |
Oculocutaneous or ocular albinism | http://www.orpha.net/ORDO/Orphanet_98706 | http://www.orpha.net/ORDO/Orphanet_98700 |
Syndromic oculocutaneous albinism | http://www.orpha.net/ORDO/Orphanet_284811 | http://www.orpha.net/ORDO/Orphanet_98706 |
Oculocerebral hypopigmentation syndrome, Cross type | http://www.orpha.net/ORDO/Orphanet_2719 | http://www.orpha.net/ORDO/Orphanet_284811 |
Griscelli disease | http://www.orpha.net/ORDO/Orphanet_381 | http://www.orpha.net/ORDO/Orphanet_284811 |
Griscelli disease type 1 | http://www.orpha.net/ORDO/Orphanet_79476 | http://www.orpha.net/ORDO/Orphanet_381 |
Griscelli disease type 2 | http://www.orpha.net/ORDO/Orphanet_79477 | http://www.orpha.net/ORDO/Orphanet_381 |
Griscelli disease type 3 | http://www.orpha.net/ORDO/Orphanet_79478 | http://www.orpha.net/ORDO/Orphanet_381 |
Chédiak-Higashi syndrome | http://www.orpha.net/ORDO/Orphanet_167 | http://www.orpha.net/ORDO/Orphanet_284811 |
Ocular albinism | http://www.orpha.net/ORDO/Orphanet_284804 | http://www.orpha.net/ORDO/Orphanet_98706 |
Ocular albinism with late-onset sensorineural deafness | http://www.orpha.net/ORDO/Orphanet_1000 | http://www.orpha.net/ORDO/Orphanet_284804 |
Ocular albinism with congenital sensorineural deafness | http://www.orpha.net/ORDO/Orphanet_352740 | http://www.orpha.net/ORDO/Orphanet_284804 |
Oculocutaneous albinism | http://www.orpha.net/ORDO/Orphanet_55 | http://www.orpha.net/ORDO/Orphanet_98706 |
Oculocutaneous albinism type 5 | http://www.orpha.net/ORDO/Orphanet_370091 | http://www.orpha.net/ORDO/Orphanet_55 |
Oculocutaneous albinism type 6 | http://www.orpha.net/ORDO/Orphanet_370097 | http://www.orpha.net/ORDO/Orphanet_55 |
Oculocutaneous albinism type 7 | http://www.orpha.net/ORDO/Orphanet_352745 | http://www.orpha.net/ORDO/Orphanet_55 |
Oculocutaneous albinism type 1 | http://www.orpha.net/ORDO/Orphanet_352731 | http://www.orpha.net/ORDO/Orphanet_55 |
Temperature-sensitive oculocutaneous albinism type 1 | http://www.orpha.net/ORDO/Orphanet_352737 | http://www.orpha.net/ORDO/Orphanet_352731 |
Minimal pigment oculocutaneous albinism type 1 | http://www.orpha.net/ORDO/Orphanet_352734 | http://www.orpha.net/ORDO/Orphanet_352731 |
Oculocutaneous albinism type 1A | http://www.orpha.net/ORDO/Orphanet_79431 | http://www.orpha.net/ORDO/Orphanet_352731 |
Oculocutaneous albinism type 1B | http://www.orpha.net/ORDO/Orphanet_79434 | http://www.orpha.net/ORDO/Orphanet_352731 |
Oculocutaneous albinism type 2 | http://www.orpha.net/ORDO/Orphanet_79432 | http://www.orpha.net/ORDO/Orphanet_55 |
Oculocutaneous albinism type 4 | http://www.orpha.net/ORDO/Orphanet_79435 | http://www.orpha.net/ORDO/Orphanet_55 |
Oculocutaneous albinism type 3 | http://www.orpha.net/ORDO/Orphanet_79433 | http://www.orpha.net/ORDO/Orphanet_55 |
Phakomatosis with eye involvement | http://www.orpha.net/ORDO/Orphanet_98701 | http://www.orpha.net/ORDO/Orphanet_98696 |
Neurofibromatosis type 1 | http://www.orpha.net/ORDO/Orphanet_636 | http://www.orpha.net/ORDO/Orphanet_98701 |
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion | http://www.orpha.net/ORDO/Orphanet_363700 | http://www.orpha.net/ORDO/Orphanet_636 |
17q11 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_97685 | http://www.orpha.net/ORDO/Orphanet_636 |
Porphyria cutanea tarda | http://www.orpha.net/ORDO/Orphanet_101330 | http://www.orpha.net/ORDO/Orphanet_98696 |
Hereditary epidermolysis bullosa associated with ocular features | http://www.orpha.net/ORDO/Orphanet_263676 | http://www.orpha.net/ORDO/Orphanet_98696 |
LOC syndrome | http://www.orpha.net/ORDO/Orphanet_2407 | http://www.orpha.net/ORDO/Orphanet_263676 |
Epidermolysis bullosa simplex with muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_257 | http://www.orpha.net/ORDO/Orphanet_263676 |
Recessive dystrophic epidermolysis bullosa-generalized other | http://www.orpha.net/ORDO/Orphanet_89842 | http://www.orpha.net/ORDO/Orphanet_263676 |
Epidermolysis bullosa simplex due to plakophilin deficiency | http://www.orpha.net/ORDO/Orphanet_158668 | http://www.orpha.net/ORDO/Orphanet_263676 |
Junctional epidermolysis bullosa, Herlitz type | http://www.orpha.net/ORDO/Orphanet_79404 | http://www.orpha.net/ORDO/Orphanet_263676 |
Optic neuropathy | http://www.orpha.net/ORDO/Orphanet_98671 | http://www.orpha.net/ORDO/Orphanet_101435 |
Isolated optic nerve hypoplasia | http://www.orpha.net/ORDO/Orphanet_137902 | http://www.orpha.net/ORDO/Orphanet_98671 |
Syndromic optic nerve hypoplasia | http://www.orpha.net/ORDO/Orphanet_137905 | http://www.orpha.net/ORDO/Orphanet_98671 |
Polymicrogyria with optic nerve hypoplasia | http://www.orpha.net/ORDO/Orphanet_250972 | http://www.orpha.net/ORDO/Orphanet_137905 |
Optic nerve edema-splenomegaly syndrome | http://www.orpha.net/ORDO/Orphanet_313800 | http://www.orpha.net/ORDO/Orphanet_98671 |
Ectodermal malformation syndrome associated with ocular features | http://www.orpha.net/ORDO/Orphanet_98709 | http://www.orpha.net/ORDO/Orphanet_101435 |
Oculodentodigital dysplasia | http://www.orpha.net/ORDO/Orphanet_2710 | http://www.orpha.net/ORDO/Orphanet_98709 |
Ectodermal dysplasia - blindness | http://www.orpha.net/ORDO/Orphanet_1806 | http://www.orpha.net/ORDO/Orphanet_98709 |
Connective tissue disease with eye involvement | http://www.orpha.net/ORDO/Orphanet_98702 | http://www.orpha.net/ORDO/Orphanet_101435 |
Focal dermal hypoplasia | http://www.orpha.net/ORDO/Orphanet_2092 | http://www.orpha.net/ORDO/Orphanet_98702 |
Pseudoxanthoma elasticum | http://www.orpha.net/ORDO/Orphanet_758 | http://www.orpha.net/ORDO/Orphanet_98702 |
scleroderma | http://www.ebi.ac.uk/efo/EFO_1001993 | http://www.orpha.net/ORDO/Orphanet_98702 |
localised scleroderma | http://www.ebi.ac.uk/efo/EFO_1001361 | http://www.ebi.ac.uk/efo/EFO_1001993 |
Scleroderma Polymyositis Overlap Syndrome | http://www.ebi.ac.uk/efo/EFO_1001994 | http://www.ebi.ac.uk/efo/EFO_1001993 |
Sclerodermatomyositis | http://www.ebi.ac.uk/efo/EFO_1001995 | http://www.ebi.ac.uk/efo/EFO_1001993 |
systemic scleroderma | http://www.ebi.ac.uk/efo/EFO_0000717 | http://www.ebi.ac.uk/efo/EFO_1001993 |
limited scleroderma | http://www.ebi.ac.uk/efo/EFO_1001017 | http://www.ebi.ac.uk/efo/EFO_0000717 |
anti-topoisomerase-I-antibody-positive systemic scleroderma | http://www.ebi.ac.uk/efo/EFO_0008537 | http://www.ebi.ac.uk/efo/EFO_0000717 |
anti-centromere-antibody-positive systemic scleroderma | http://www.ebi.ac.uk/efo/EFO_0008536 | http://www.ebi.ac.uk/efo/EFO_0000717 |
diffuse scleroderma | http://www.ebi.ac.uk/efo/EFO_0000404 | http://www.ebi.ac.uk/efo/EFO_0000717 |
Metabolic disease associated with ocular features | http://www.orpha.net/ORDO/Orphanet_98710 | http://www.orpha.net/ORDO/Orphanet_101435 |
Mitochondrial disease with eye involvement | http://www.orpha.net/ORDO/Orphanet_98695 | http://www.orpha.net/ORDO/Orphanet_98710 |
Mitochondrial DNA depletion syndrome | http://www.orpha.net/ORDO/Orphanet_35698 | http://www.orpha.net/ORDO/Orphanet_98695 |
Early-onset spastic ataxia-neuropathy syndrome | http://www.orpha.net/ORDO/Orphanet_313772 | http://www.orpha.net/ORDO/Orphanet_35698 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form | http://www.orpha.net/ORDO/Orphanet_254803 | http://www.orpha.net/ORDO/Orphanet_35698 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy | http://www.orpha.net/ORDO/Orphanet_255235 | http://www.orpha.net/ORDO/Orphanet_254803 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | http://www.orpha.net/ORDO/Orphanet_369897 | http://www.orpha.net/ORDO/Orphanet_254803 |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | http://www.orpha.net/ORDO/Orphanet_1933 | http://www.orpha.net/ORDO/Orphanet_254803 |
Mitochondrial DNA depletion syndrome, hepatocerebral form | http://www.orpha.net/ORDO/Orphanet_254871 | http://www.orpha.net/ORDO/Orphanet_35698 |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | http://www.orpha.net/ORDO/Orphanet_279934 | http://www.orpha.net/ORDO/Orphanet_254871 |
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form | http://www.orpha.net/ORDO/Orphanet_363534 | http://www.orpha.net/ORDO/Orphanet_254871 |
Infantile onset spinocerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_1186 | http://www.orpha.net/ORDO/Orphanet_254871 |
Mitochondrial DNA depletion syndrome, myopathic form | http://www.orpha.net/ORDO/Orphanet_254875 | http://www.orpha.net/ORDO/Orphanet_35698 |
Alpers syndrome | http://www.orpha.net/ORDO/Orphanet_726 | http://www.orpha.net/ORDO/Orphanet_35698 |
Mitochondrial neurogastrointestinal encephalomyopathy | http://www.orpha.net/ORDO/Orphanet_298 | http://www.orpha.net/ORDO/Orphanet_35698 |
Fatal infantile lactic acidosis with methylmalonic aciduria | http://www.orpha.net/ORDO/Orphanet_17 | http://www.orpha.net/ORDO/Orphanet_35698 |
Mohr-Tranebjaerg syndrome | http://www.orpha.net/ORDO/Orphanet_52368 | http://www.orpha.net/ORDO/Orphanet_98695 |
Maternally-inherited progressive external ophthalmoplegia | http://www.orpha.net/ORDO/Orphanet_663 | http://www.orpha.net/ORDO/Orphanet_98695 |
MELAS | http://www.orpha.net/ORDO/Orphanet_550 | http://www.orpha.net/ORDO/Orphanet_98695 |
MERRF | http://www.orpha.net/ORDO/Orphanet_551 | http://www.orpha.net/ORDO/Orphanet_98695 |
Metabolic disease with pigmentary retinitis | http://www.orpha.net/ORDO/Orphanet_98713 | http://www.orpha.net/ORDO/Orphanet_98710 |
Refsum disease | http://www.orpha.net/ORDO/Orphanet_773 | http://www.orpha.net/ORDO/Orphanet_98713 |
Ataxia with vitamin E deficiency | http://www.orpha.net/ORDO/Orphanet_96 | http://www.orpha.net/ORDO/Orphanet_98713 |
Methylmalonic acidemia with homocystinuria, type cblC | http://www.orpha.net/ORDO/Orphanet_79282 | http://www.orpha.net/ORDO/Orphanet_98713 |
Metabolic disease with macular cherry-red spot | http://www.orpha.net/ORDO/Orphanet_98714 | http://www.orpha.net/ORDO/Orphanet_98710 |
Metabolic disease with corneal opacity | http://www.orpha.net/ORDO/Orphanet_98711 | http://www.orpha.net/ORDO/Orphanet_98710 |
Tyrosinemia type 2 | http://www.orpha.net/ORDO/Orphanet_28378 | http://www.orpha.net/ORDO/Orphanet_98711 |
Alpha-mannosidosis | http://www.orpha.net/ORDO/Orphanet_61 | http://www.orpha.net/ORDO/Orphanet_98711 |
Alpha-mannosidosis, infantile form | http://www.orpha.net/ORDO/Orphanet_309282 | http://www.orpha.net/ORDO/Orphanet_61 |
Alpha-mannosidosis, adult form | http://www.orpha.net/ORDO/Orphanet_309288 | http://www.orpha.net/ORDO/Orphanet_61 |
Metabolic disease with cataract | http://www.orpha.net/ORDO/Orphanet_98712 | http://www.orpha.net/ORDO/Orphanet_98710 |
Galactosemia | http://www.orpha.net/ORDO/Orphanet_352 | http://www.orpha.net/ORDO/Orphanet_98712 |
Galactokinase deficiency | http://www.orpha.net/ORDO/Orphanet_79237 | http://www.orpha.net/ORDO/Orphanet_352 |
Galactose epimerase deficiency | http://www.orpha.net/ORDO/Orphanet_79238 | http://www.orpha.net/ORDO/Orphanet_352 |
Generalized galactose epimerase deficiency | http://www.orpha.net/ORDO/Orphanet_308487 | http://www.orpha.net/ORDO/Orphanet_79238 |
Erythrocyte galactose epimerase deficiency | http://www.orpha.net/ORDO/Orphanet_308473 | http://www.orpha.net/ORDO/Orphanet_79238 |
Rhizomelic chondrodysplasia punctata | http://www.orpha.net/ORDO/Orphanet_177 | http://www.orpha.net/ORDO/Orphanet_98712 |
Rhizomelic chondrodysplasia punctata type 3 | http://www.orpha.net/ORDO/Orphanet_309803 | http://www.orpha.net/ORDO/Orphanet_177 |
Rhizomelic chondrodysplasia punctata type 2 | http://www.orpha.net/ORDO/Orphanet_309796 | http://www.orpha.net/ORDO/Orphanet_177 |
Rhizomelic chondrodysplasia punctata type 1 | http://www.orpha.net/ORDO/Orphanet_309789 | http://www.orpha.net/ORDO/Orphanet_177 |
Hereditary hyperferritinemia with congenital cataracts | http://www.orpha.net/ORDO/Orphanet_163 | http://www.orpha.net/ORDO/Orphanet_98712 |
Mevalonic aciduria | http://www.orpha.net/ORDO/Orphanet_29 | http://www.orpha.net/ORDO/Orphanet_98712 |
Corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_34533 | http://www.orpha.net/ORDO/Orphanet_101435 |
Posterior corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98627 | http://www.orpha.net/ORDO/Orphanet_34533 |
Congenital hereditary endothelial dystrophy type I | http://www.orpha.net/ORDO/Orphanet_98975 | http://www.orpha.net/ORDO/Orphanet_98627 |
Posterior polymorphous corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98973 | http://www.orpha.net/ORDO/Orphanet_98627 |
Fuchs endothelial corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98974 | http://www.orpha.net/ORDO/Orphanet_98627 |
Central cloudy dystrophy of Francois | http://www.orpha.net/ORDO/Orphanet_98972 | http://www.orpha.net/ORDO/Orphanet_98627 |
Syndromic corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98628 | http://www.orpha.net/ORDO/Orphanet_34533 |
Spastic ataxia - corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_2572 | http://www.orpha.net/ORDO/Orphanet_98628 |
Oculodental syndrome, Rutherfurd type | http://www.orpha.net/ORDO/Orphanet_2709 | http://www.orpha.net/ORDO/Orphanet_98628 |
Ophthalmomandibulomelic dysplasia | http://www.orpha.net/ORDO/Orphanet_2741 | http://www.orpha.net/ORDO/Orphanet_98628 |
Subaortic stenosis - short stature | http://www.orpha.net/ORDO/Orphanet_3191 | http://www.orpha.net/ORDO/Orphanet_98628 |
Corneal-cerebellar syndrome | http://www.orpha.net/ORDO/Orphanet_3177 | http://www.orpha.net/ORDO/Orphanet_98628 |
Familial amyloidosis, Finnish type | http://www.orpha.net/ORDO/Orphanet_85448 | http://www.orpha.net/ORDO/Orphanet_98628 |
X-linked reticulate pigmentary disorder with systemic manifestations | http://www.orpha.net/ORDO/Orphanet_85453 | http://www.orpha.net/ORDO/Orphanet_98628 |
Corneal dystrophy - perceptive deafness | http://www.orpha.net/ORDO/Orphanet_1490 | http://www.orpha.net/ORDO/Orphanet_98628 |
Dermochondrocorneal dystrophy | http://www.orpha.net/ORDO/Orphanet_79149 | http://www.orpha.net/ORDO/Orphanet_98628 |
Superficial corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98625 | http://www.orpha.net/ORDO/Orphanet_34533 |
Reis-Bücklers corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98961 | http://www.orpha.net/ORDO/Orphanet_98625 |
Subepithelial mucinous corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98959 | http://www.orpha.net/ORDO/Orphanet_98625 |
Gelatinous drop-like corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98957 | http://www.orpha.net/ORDO/Orphanet_98625 |
Honey-droplet corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98958 | http://www.orpha.net/ORDO/Orphanet_98625 |
Microcystic corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98956 | http://www.orpha.net/ORDO/Orphanet_98625 |
Epithelial recurrent erosion dystrophy | http://www.orpha.net/ORDO/Orphanet_293381 | http://www.orpha.net/ORDO/Orphanet_98625 |
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis | http://www.orpha.net/ORDO/Orphanet_352662 | http://www.orpha.net/ORDO/Orphanet_98625 |
Hereditary benign intraepithelial dyskeratosis | http://www.orpha.net/ORDO/Orphanet_352657 | http://www.orpha.net/ORDO/Orphanet_98625 |
Stromal corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98626 | http://www.orpha.net/ORDO/Orphanet_34533 |
Posterior amorphous corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98971 | http://www.orpha.net/ORDO/Orphanet_98626 |
Fleck corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98970 | http://www.orpha.net/ORDO/Orphanet_98626 |
Macular corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_98969 | http://www.orpha.net/ORDO/Orphanet_98626 |
Lattice corneal dystrophy type I | http://www.orpha.net/ORDO/Orphanet_98964 | http://www.orpha.net/ORDO/Orphanet_98626 |
Granular corneal dystrophy type I | http://www.orpha.net/ORDO/Orphanet_98962 | http://www.orpha.net/ORDO/Orphanet_98626 |
Granular corneal dystrophy type II | http://www.orpha.net/ORDO/Orphanet_98963 | http://www.orpha.net/ORDO/Orphanet_98626 |
Congenital stromal corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_101068 | http://www.orpha.net/ORDO/Orphanet_98626 |
Pre-Descemet corneal dystrophy | http://www.orpha.net/ORDO/Orphanet_293462 | http://www.orpha.net/ORDO/Orphanet_98626 |
Autosomal dominant keratitis | http://www.orpha.net/ORDO/Orphanet_2334 | http://www.orpha.net/ORDO/Orphanet_34533 |
Blindness-scoliosis-arachnodactyly syndrome | http://www.orpha.net/ORDO/Orphanet_171844 | http://www.orpha.net/ORDO/Orphanet_101435 |
Genetic developmental defect of the eye | http://www.orpha.net/ORDO/Orphanet_183557 | http://www.orpha.net/ORDO/Orphanet_101435 |
Microcephaly-microcornea syndrome, Seemanova type | http://www.orpha.net/ORDO/Orphanet_2528 | http://www.orpha.net/ORDO/Orphanet_183557 |
Major induction processes eye anomaly | http://www.orpha.net/ORDO/Orphanet_98554 | http://www.orpha.net/ORDO/Orphanet_183557 |
Oculoauricular syndrome, Schorderet type | http://www.orpha.net/ORDO/Orphanet_157962 | http://www.orpha.net/ORDO/Orphanet_98554 |
Aniridia | http://www.orpha.net/ORDO/Orphanet_77 | http://www.orpha.net/ORDO/Orphanet_98554 |
Syndromic aniridia | http://www.orpha.net/ORDO/Orphanet_98557 | http://www.orpha.net/ORDO/Orphanet_77 |
Aniridia - absent patella | http://www.orpha.net/ORDO/Orphanet_1069 | http://www.orpha.net/ORDO/Orphanet_98557 |
Aniridia - renal agenesis - psychomotor retardation | http://www.orpha.net/ORDO/Orphanet_1064 | http://www.orpha.net/ORDO/Orphanet_98557 |
Aniridia-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_1068 | http://www.orpha.net/ORDO/Orphanet_98557 |
Aniridia - ptosis - intellectual disability - familial obesity | http://www.orpha.net/ORDO/Orphanet_1067 | http://www.orpha.net/ORDO/Orphanet_98557 |
Isolated aniridia | http://www.orpha.net/ORDO/Orphanet_250923 | http://www.orpha.net/ORDO/Orphanet_77 |
Hereditary glaucoma | http://www.orpha.net/ORDO/Orphanet_359 | http://www.orpha.net/ORDO/Orphanet_183557 |
Secondary dysgenetic glaucoma | http://www.orpha.net/ORDO/Orphanet_98631 | http://www.orpha.net/ORDO/Orphanet_359 |
Secondary glaucoma due to a proliferation and differentiation anomaly | http://www.orpha.net/ORDO/Orphanet_98637 | http://www.orpha.net/ORDO/Orphanet_98631 |
Iridocorneal endothelial syndrome | http://www.orpha.net/ORDO/Orphanet_64734 | http://www.orpha.net/ORDO/Orphanet_98637 |
Essential iris atrophy | http://www.orpha.net/ORDO/Orphanet_98981 | http://www.orpha.net/ORDO/Orphanet_64734 |
Glaucoma associated with neural crest cell migration anomaly | http://www.orpha.net/ORDO/Orphanet_98632 | http://www.orpha.net/ORDO/Orphanet_98631 |
Corneoiridogoniodysgenesis | http://www.orpha.net/ORDO/Orphanet_98636 | http://www.orpha.net/ORDO/Orphanet_98632 |
Iridogoniodysgenesis | http://www.orpha.net/ORDO/Orphanet_98634 | http://www.orpha.net/ORDO/Orphanet_98632 |
Congenital ectropion uveae | http://www.orpha.net/ORDO/Orphanet_91491 | http://www.orpha.net/ORDO/Orphanet_98634 |
Congenital microcoria | http://www.orpha.net/ORDO/Orphanet_566 | http://www.orpha.net/ORDO/Orphanet_98634 |
Corneogoniodysgenesis | http://www.orpha.net/ORDO/Orphanet_98635 | http://www.orpha.net/ORDO/Orphanet_98632 |
Isolated congenital sclerocornea | http://www.orpha.net/ORDO/Orphanet_91490 | http://www.orpha.net/ORDO/Orphanet_98635 |
Isolated congenital megalocornea | http://www.orpha.net/ORDO/Orphanet_91489 | http://www.orpha.net/ORDO/Orphanet_98635 |
Goniodysgenesis | http://www.orpha.net/ORDO/Orphanet_98633 | http://www.orpha.net/ORDO/Orphanet_98632 |
Primary glaucoma | http://www.orpha.net/ORDO/Orphanet_156005 | http://www.orpha.net/ORDO/Orphanet_359 |
Juvenile glaucoma | http://www.orpha.net/ORDO/Orphanet_98977 | http://www.orpha.net/ORDO/Orphanet_156005 |
Congenital glaucoma | http://www.orpha.net/ORDO/Orphanet_98976 | http://www.orpha.net/ORDO/Orphanet_156005 |
hydrophthalmos | http://www.ebi.ac.uk/efo/EFO_1000968 | http://www.orpha.net/ORDO/Orphanet_98976 |
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea | http://www.orpha.net/ORDO/Orphanet_238763 | http://www.orpha.net/ORDO/Orphanet_359 |
Syndromic developmental defect of the eye | http://www.orpha.net/ORDO/Orphanet_108987 | http://www.orpha.net/ORDO/Orphanet_183557 |
Glaucoma - ectopia - microspherophakia - stiff joints - short stature | http://www.orpha.net/ORDO/Orphanet_2084 | http://www.orpha.net/ORDO/Orphanet_108987 |
Frontofacionasal dysplasia | http://www.orpha.net/ORDO/Orphanet_1791 | http://www.orpha.net/ORDO/Orphanet_108987 |
Cataract - hypertrichosis - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1375 | http://www.orpha.net/ORDO/Orphanet_108987 |
Congenital cataract - ichthyosis | http://www.orpha.net/ORDO/Orphanet_1376 | http://www.orpha.net/ORDO/Orphanet_108987 |
Cataract - aberrant oral frenula - growth delay | http://www.orpha.net/ORDO/Orphanet_1373 | http://www.orpha.net/ORDO/Orphanet_108987 |
Cataract - intellectual disability - anal atresia - urinary defects | http://www.orpha.net/ORDO/Orphanet_1381 | http://www.orpha.net/ORDO/Orphanet_108987 |
Distal trisomy 14q | http://www.orpha.net/ORDO/Orphanet_1705 | http://www.orpha.net/ORDO/Orphanet_108987 |
Oculocerebrocutaneous syndrome | http://www.orpha.net/ORDO/Orphanet_1647 | http://www.orpha.net/ORDO/Orphanet_108987 |
Ankyloblepharon filiforme - imperforate anus | http://www.orpha.net/ORDO/Orphanet_1074 | http://www.orpha.net/ORDO/Orphanet_108987 |
Ankyloblepharon filiforme adnatum - cleft palate | http://www.orpha.net/ORDO/Orphanet_1072 | http://www.orpha.net/ORDO/Orphanet_108987 |
Ankyloblepharon - ectodermal defects - cleft lip/palate | http://www.orpha.net/ORDO/Orphanet_1071 | http://www.orpha.net/ORDO/Orphanet_108987 |
Blepharophimosis - radioulnar synostosis | http://www.orpha.net/ORDO/Orphanet_1256 | http://www.orpha.net/ORDO/Orphanet_108987 |
Autosomal dominant popliteal pterygium syndrome | http://www.orpha.net/ORDO/Orphanet_1300 | http://www.orpha.net/ORDO/Orphanet_108987 |
Microphthalmia with limb anomalies | http://www.orpha.net/ORDO/Orphanet_1106 | http://www.orpha.net/ORDO/Orphanet_108987 |
Congenital cataracts - facial dysmorphism - neuropathy | http://www.orpha.net/ORDO/Orphanet_48431 | http://www.orpha.net/ORDO/Orphanet_108987 |
Cat-eye syndrome | http://www.orpha.net/ORDO/Orphanet_195 | http://www.orpha.net/ORDO/Orphanet_108987 |
Postaxial acrofacial dysostosis | http://www.orpha.net/ORDO/Orphanet_246 | http://www.orpha.net/ORDO/Orphanet_108987 |
Nager syndrome | http://www.orpha.net/ORDO/Orphanet_245 | http://www.orpha.net/ORDO/Orphanet_108987 |
Marinesco-Sjögren syndrome | http://www.orpha.net/ORDO/Orphanet_559 | http://www.orpha.net/ORDO/Orphanet_108987 |
Oculocerebrofacial syndrome, Kaufman type | http://www.orpha.net/ORDO/Orphanet_2707 | http://www.orpha.net/ORDO/Orphanet_108987 |
Acro-oto-ocular syndrome | http://www.orpha.net/ORDO/Orphanet_2980 | http://www.orpha.net/ORDO/Orphanet_108987 |
Encephalopathy due to sulfite oxidase deficiency | http://www.orpha.net/ORDO/Orphanet_833 | http://www.orpha.net/ORDO/Orphanet_108987 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency | http://www.orpha.net/ORDO/Orphanet_99732 | http://www.orpha.net/ORDO/Orphanet_833 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | http://www.orpha.net/ORDO/Orphanet_308393 | http://www.orpha.net/ORDO/Orphanet_99732 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | http://www.orpha.net/ORDO/Orphanet_308386 | http://www.orpha.net/ORDO/Orphanet_99732 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | http://www.orpha.net/ORDO/Orphanet_308400 | http://www.orpha.net/ORDO/Orphanet_99732 |
Isolated sulfite oxidase deficiency | http://www.orpha.net/ORDO/Orphanet_99731 | http://www.orpha.net/ORDO/Orphanet_833 |
Ablepharon macrostomia syndrome | http://www.orpha.net/ORDO/Orphanet_920 | http://www.orpha.net/ORDO/Orphanet_108987 |
Macular coloboma - cleft palate - hallux valgus | http://www.orpha.net/ORDO/Orphanet_91494 | http://www.orpha.net/ORDO/Orphanet_108987 |
Microcornea - glaucoma - absent frontal sinuses | http://www.orpha.net/ORDO/Orphanet_2536 | http://www.orpha.net/ORDO/Orphanet_108987 |
Microcornea - corectopia - macular hypoplasia | http://www.orpha.net/ORDO/Orphanet_2535 | http://www.orpha.net/ORDO/Orphanet_108987 |
Microspherophakia - metaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_2551 | http://www.orpha.net/ORDO/Orphanet_108987 |
Blepharophimosis - ptosis - esotropia - syndactyly - short stature | http://www.orpha.net/ORDO/Orphanet_2057 | http://www.orpha.net/ORDO/Orphanet_108987 |
Non-syndromic developmental defect of the eye | http://www.orpha.net/ORDO/Orphanet_108985 | http://www.orpha.net/ORDO/Orphanet_183557 |
Microphthalmia - cataract | http://www.orpha.net/ORDO/Orphanet_2543 | http://www.orpha.net/ORDO/Orphanet_108985 |
Isolated ankyloblepharon filiforme adnatum | http://www.orpha.net/ORDO/Orphanet_91397 | http://www.orpha.net/ORDO/Orphanet_108985 |
Isolated cryptophthalmia | http://www.orpha.net/ORDO/Orphanet_91396 | http://www.orpha.net/ORDO/Orphanet_108985 |
Congenital symblepharon | http://www.orpha.net/ORDO/Orphanet_98948 | http://www.orpha.net/ORDO/Orphanet_91396 |
Complete cryptophthalmia | http://www.orpha.net/ORDO/Orphanet_98949 | http://www.orpha.net/ORDO/Orphanet_91396 |
Partial cryptophthalmia | http://www.orpha.net/ORDO/Orphanet_98950 | http://www.orpha.net/ORDO/Orphanet_91396 |
Blepharoptosis - myopia - ectopia lentis | http://www.orpha.net/ORDO/Orphanet_1259 | http://www.orpha.net/ORDO/Orphanet_108985 |
Cataract-microcornea syndrome | http://www.orpha.net/ORDO/Orphanet_1377 | http://www.orpha.net/ORDO/Orphanet_108985 |
Rare genetic palpebral, lacrimal system and conjunctival disease | http://www.orpha.net/ORDO/Orphanet_183598 | http://www.orpha.net/ORDO/Orphanet_101435 |
Rare conjunctival disease | http://www.orpha.net/ORDO/Orphanet_98610 | http://www.orpha.net/ORDO/Orphanet_183598 |
Conjunctival tumor | http://www.orpha.net/ORDO/Orphanet_98616 | http://www.orpha.net/ORDO/Orphanet_98610 |
Bulbar conjunctival dermoid or conjunctival dermolipoma | http://www.orpha.net/ORDO/Orphanet_98617 | http://www.orpha.net/ORDO/Orphanet_98616 |
Pterygium of the conjunctiva, familial form | http://www.orpha.net/ORDO/Orphanet_2989 | http://www.orpha.net/ORDO/Orphanet_98616 |
Pigmented conjunctival lesion | http://www.orpha.net/ORDO/Orphanet_98615 | http://www.orpha.net/ORDO/Orphanet_98610 |
Alkaptonuria | http://www.orpha.net/ORDO/Orphanet_56 | http://www.orpha.net/ORDO/Orphanet_98615 |
Conjunctival vascular anomaly | http://www.orpha.net/ORDO/Orphanet_98611 | http://www.orpha.net/ORDO/Orphanet_98610 |
Conjunctival lymphangiectasia | http://www.orpha.net/ORDO/Orphanet_98614 | http://www.orpha.net/ORDO/Orphanet_98611 |
Milroy disease | http://www.orpha.net/ORDO/Orphanet_79452 | http://www.orpha.net/ORDO/Orphanet_98614 |
Conjunctival hemangioma or hemolymphangioma | http://www.orpha.net/ORDO/Orphanet_98612 | http://www.orpha.net/ORDO/Orphanet_98611 |
Conjunctival telangiectasia | http://www.orpha.net/ORDO/Orphanet_98613 | http://www.orpha.net/ORDO/Orphanet_98611 |
Hereditary hemorrhagic telangiectasia | http://www.orpha.net/ORDO/Orphanet_774 | http://www.orpha.net/ORDO/Orphanet_98613 |
Ligneous conjunctivitis | http://www.orpha.net/ORDO/Orphanet_97231 | http://www.orpha.net/ORDO/Orphanet_98610 |
Rare lacrimal system disease | http://www.orpha.net/ORDO/Orphanet_98602 | http://www.orpha.net/ORDO/Orphanet_183598 |
Anomaly of the secretory and excretory apparatus of the lacrimal system | http://www.orpha.net/ORDO/Orphanet_98608 | http://www.orpha.net/ORDO/Orphanet_98602 |
Excretory apparatus of the lacrimal system anomaly | http://www.orpha.net/ORDO/Orphanet_98605 | http://www.orpha.net/ORDO/Orphanet_98602 |
Aplasia of lacrimal and salivary glands | http://www.orpha.net/ORDO/Orphanet_86815 | http://www.orpha.net/ORDO/Orphanet_98605 |
Syndromic orbital border hypoplasia | http://www.orpha.net/ORDO/Orphanet_98606 | http://www.orpha.net/ORDO/Orphanet_98605 |
Ptosis - upper ocular movement limitation - absence of lacrimal punctum | http://www.orpha.net/ORDO/Orphanet_228396 | http://www.orpha.net/ORDO/Orphanet_98605 |
Secretory apparatus of the lacrimal system anomaly | http://www.orpha.net/ORDO/Orphanet_98603 | http://www.orpha.net/ORDO/Orphanet_98602 |
Congenital alacrima | http://www.orpha.net/ORDO/Orphanet_98604 | http://www.orpha.net/ORDO/Orphanet_98603 |
Isolated congenital alacrima | http://www.orpha.net/ORDO/Orphanet_91416 | http://www.orpha.net/ORDO/Orphanet_98604 |
Intellectual disability - alacrima - achalasia | http://www.orpha.net/ORDO/Orphanet_289483 | http://www.orpha.net/ORDO/Orphanet_98604 |
Familial dysautonomia | http://www.orpha.net/ORDO/Orphanet_1764 | http://www.orpha.net/ORDO/Orphanet_98604 |
Rare palpebral disease | http://www.orpha.net/ORDO/Orphanet_98560 | http://www.orpha.net/ORDO/Orphanet_183598 |
Rare eyebrow/eyelashes anomaly | http://www.orpha.net/ORDO/Orphanet_98594 | http://www.orpha.net/ORDO/Orphanet_98560 |
Eyebrow/eyelashes pigmentation anomaly | http://www.orpha.net/ORDO/Orphanet_98601 | http://www.orpha.net/ORDO/Orphanet_98594 |
Eyebrow/eyelashes distichiasis | http://www.orpha.net/ORDO/Orphanet_98600 | http://www.orpha.net/ORDO/Orphanet_98594 |
Lymphedema - distichiasis | http://www.orpha.net/ORDO/Orphanet_33001 | http://www.orpha.net/ORDO/Orphanet_98600 |
Trisomy 18 | http://www.orpha.net/ORDO/Orphanet_3380 | http://www.orpha.net/ORDO/Orphanet_98600 |
Isolated distichiasis | http://www.orpha.net/ORDO/Orphanet_99177 | http://www.orpha.net/ORDO/Orphanet_98600 |
Eyebrow/eyelashes structural anomaly | http://www.orpha.net/ORDO/Orphanet_98599 | http://www.orpha.net/ORDO/Orphanet_98594 |
Eyelashes hypertrophy | http://www.orpha.net/ORDO/Orphanet_98597 | http://www.orpha.net/ORDO/Orphanet_98594 |
Congenital absence of the eyebrow/eyelashes | http://www.orpha.net/ORDO/Orphanet_98598 | http://www.orpha.net/ORDO/Orphanet_98594 |
Eyebrow/eyelashes hypertrichosis | http://www.orpha.net/ORDO/Orphanet_98595 | http://www.orpha.net/ORDO/Orphanet_98594 |
Hypertrichosis lanuginosa congenita | http://www.orpha.net/ORDO/Orphanet_2222 | http://www.orpha.net/ORDO/Orphanet_98595 |
Congenital generalized hypertrichosis, Ambras type | http://www.orpha.net/ORDO/Orphanet_1023 | http://www.orpha.net/ORDO/Orphanet_2222 |
Eyebrow hypertrophy | http://www.orpha.net/ORDO/Orphanet_98596 | http://www.orpha.net/ORDO/Orphanet_98594 |
Palpebral tumor | http://www.orpha.net/ORDO/Orphanet_98580 | http://www.orpha.net/ORDO/Orphanet_98560 |
Neurogenic palpebral tumor | http://www.orpha.net/ORDO/Orphanet_98593 | http://www.orpha.net/ORDO/Orphanet_98580 |
Mesenchymatous palpebral tumor | http://www.orpha.net/ORDO/Orphanet_98591 | http://www.orpha.net/ORDO/Orphanet_98580 |
Palpebral tumor with a vascular malformation | http://www.orpha.net/ORDO/Orphanet_98592 | http://www.orpha.net/ORDO/Orphanet_98580 |
Palpebral piliary tumor | http://www.orpha.net/ORDO/Orphanet_98590 | http://www.orpha.net/ORDO/Orphanet_98580 |
Precancerous lesion of palpebral epidermis | http://www.orpha.net/ORDO/Orphanet_98583 | http://www.orpha.net/ORDO/Orphanet_98580 |
Pigmented palpebral tumor | http://www.orpha.net/ORDO/Orphanet_98586 | http://www.orpha.net/ORDO/Orphanet_98580 |
Palpebral nevus | http://www.orpha.net/ORDO/Orphanet_98588 | http://www.orpha.net/ORDO/Orphanet_98586 |
Palpebral malignant melanoma | http://www.orpha.net/ORDO/Orphanet_98589 | http://www.orpha.net/ORDO/Orphanet_98586 |
Palpebral lentiginosis | http://www.orpha.net/ORDO/Orphanet_98587 | http://www.orpha.net/ORDO/Orphanet_98586 |
Malignant tumor of palpebral epidermis | http://www.orpha.net/ORDO/Orphanet_98584 | http://www.orpha.net/ORDO/Orphanet_98580 |
Palpebral sebaceous gland tumor | http://www.orpha.net/ORDO/Orphanet_98585 | http://www.orpha.net/ORDO/Orphanet_98580 |
Canthal anomaly | http://www.orpha.net/ORDO/Orphanet_98572 | http://www.orpha.net/ORDO/Orphanet_98560 |
Telecanthus | http://www.orpha.net/ORDO/Orphanet_98575 | http://www.orpha.net/ORDO/Orphanet_98572 |
Malposition of external canthus | http://www.orpha.net/ORDO/Orphanet_98576 | http://www.orpha.net/ORDO/Orphanet_98572 |
Epicanthal fold | http://www.orpha.net/ORDO/Orphanet_98573 | http://www.orpha.net/ORDO/Orphanet_98572 |
Syndromic epicanthus | http://www.orpha.net/ORDO/Orphanet_98574 | http://www.orpha.net/ORDO/Orphanet_98573 |
Monosomy 5p | http://www.orpha.net/ORDO/Orphanet_281 | http://www.orpha.net/ORDO/Orphanet_98574 |
Kinetic eyelid anomaly | http://www.orpha.net/ORDO/Orphanet_98577 | http://www.orpha.net/ORDO/Orphanet_98560 |
Congenital upper palpebral retraction | http://www.orpha.net/ORDO/Orphanet_98579 | http://www.orpha.net/ORDO/Orphanet_98577 |
Congenital eyelid retraction | http://www.orpha.net/ORDO/Orphanet_99176 | http://www.orpha.net/ORDO/Orphanet_98579 |
Ptosis | http://www.orpha.net/ORDO/Orphanet_98578 | http://www.orpha.net/ORDO/Orphanet_98577 |
Marcus-Gunn syndrome | http://www.orpha.net/ORDO/Orphanet_91412 | http://www.orpha.net/ORDO/Orphanet_98578 |
Inverse Marcus-Gunn phenomenon | http://www.orpha.net/ORDO/Orphanet_98951 | http://www.orpha.net/ORDO/Orphanet_91412 |
Congenital ptosis | http://www.orpha.net/ORDO/Orphanet_91411 | http://www.orpha.net/ORDO/Orphanet_98578 |
Congenital Horner syndrome | http://www.orpha.net/ORDO/Orphanet_91413 | http://www.orpha.net/ORDO/Orphanet_98578 |
Baraitser-Winter syndrome | http://www.orpha.net/ORDO/Orphanet_2995 | http://www.orpha.net/ORDO/Orphanet_98578 |
Ptosis - vocal cord paralysis | http://www.orpha.net/ORDO/Orphanet_2997 | http://www.orpha.net/ORDO/Orphanet_98578 |
Ptosis - strabismus - ectopic pupils | http://www.orpha.net/ORDO/Orphanet_2999 | http://www.orpha.net/ORDO/Orphanet_98578 |
Congenital myasthenic syndromes | http://www.orpha.net/ORDO/Orphanet_590 | http://www.orpha.net/ORDO/Orphanet_98578 |
Congenital myasthenic syndromes with glycosylation defect | http://www.orpha.net/ORDO/Orphanet_353327 | http://www.orpha.net/ORDO/Orphanet_590 |
Synaptic congenital myasthenic syndromes | http://www.orpha.net/ORDO/Orphanet_98915 | http://www.orpha.net/ORDO/Orphanet_590 |
Postsynaptic congenital myasthenic syndromes | http://www.orpha.net/ORDO/Orphanet_98913 | http://www.orpha.net/ORDO/Orphanet_590 |
Presynaptic congenital myasthenic syndromes | http://www.orpha.net/ORDO/Orphanet_98914 | http://www.orpha.net/ORDO/Orphanet_590 |
congenital myasthenic syndrome, dominant/recessive | http://www.ebi.ac.uk/efo/EFO_0020041 | http://www.orpha.net/ORDO/Orphanet_590 |
Centronuclear myopathy | http://www.orpha.net/ORDO/Orphanet_595 | http://www.orpha.net/ORDO/Orphanet_98578 |
Autosomal recessive centronuclear myopathy | http://www.orpha.net/ORDO/Orphanet_169186 | http://www.orpha.net/ORDO/Orphanet_595 |
Autosomal dominant centronuclear myopathy | http://www.orpha.net/ORDO/Orphanet_169189 | http://www.orpha.net/ORDO/Orphanet_595 |
Oculopharyngeal muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_270 | http://www.orpha.net/ORDO/Orphanet_98578 |
Dopamine beta-hydroxylase deficiency | http://www.orpha.net/ORDO/Orphanet_230 | http://www.orpha.net/ORDO/Orphanet_98578 |
Congenital fibrosis of extraocular muscles | http://www.orpha.net/ORDO/Orphanet_45358 | http://www.orpha.net/ORDO/Orphanet_98578 |
Oculogastrointestinal muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_1876 | http://www.orpha.net/ORDO/Orphanet_98578 |
Eyelid malformation | http://www.orpha.net/ORDO/Orphanet_98561 | http://www.orpha.net/ORDO/Orphanet_98560 |
Eyelid border anomaly | http://www.orpha.net/ORDO/Orphanet_98564 | http://www.orpha.net/ORDO/Orphanet_98561 |
Coloboma of eyelid | http://www.orpha.net/ORDO/Orphanet_98946 | http://www.orpha.net/ORDO/Orphanet_98564 |
Syndromic palpebral coloboma | http://www.orpha.net/ORDO/Orphanet_98566 | http://www.orpha.net/ORDO/Orphanet_98564 |
Syndromic ankyloblepharon | http://www.orpha.net/ORDO/Orphanet_98565 | http://www.orpha.net/ORDO/Orphanet_98564 |
Cryptophthalmia | http://www.orpha.net/ORDO/Orphanet_98562 | http://www.orpha.net/ORDO/Orphanet_98561 |
Microblepharon - ablephara | http://www.orpha.net/ORDO/Orphanet_98563 | http://www.orpha.net/ORDO/Orphanet_98561 |
Eyelids malposition disorder | http://www.orpha.net/ORDO/Orphanet_98567 | http://www.orpha.net/ORDO/Orphanet_98560 |
Secondary ectropion | http://www.orpha.net/ORDO/Orphanet_98571 | http://www.orpha.net/ORDO/Orphanet_98567 |
Keratosis follicularis spinulosa decalvans | http://www.orpha.net/ORDO/Orphanet_2340 | http://www.orpha.net/ORDO/Orphanet_98571 |
Congenital ectropion | http://www.orpha.net/ORDO/Orphanet_98570 | http://www.orpha.net/ORDO/Orphanet_98567 |
Euryblepharon | http://www.orpha.net/ORDO/Orphanet_99172 | http://www.orpha.net/ORDO/Orphanet_98570 |
Isolated congenital ectropion | http://www.orpha.net/ORDO/Orphanet_99171 | http://www.orpha.net/ORDO/Orphanet_98570 |
Blepharo-cheilo-odontic syndrome | http://www.orpha.net/ORDO/Orphanet_1997 | http://www.orpha.net/ORDO/Orphanet_98570 |
Congenital entropion | http://www.orpha.net/ORDO/Orphanet_98568 | http://www.orpha.net/ORDO/Orphanet_98567 |
Secondary entropion | http://www.orpha.net/ORDO/Orphanet_98569 | http://www.orpha.net/ORDO/Orphanet_98568 |
Cutis laxa | http://www.orpha.net/ORDO/Orphanet_209 | http://www.orpha.net/ORDO/Orphanet_98568 |
Geroderma osteodysplastica | http://www.orpha.net/ORDO/Orphanet_2078 | http://www.orpha.net/ORDO/Orphanet_209 |
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | http://www.orpha.net/ORDO/Orphanet_221145 | http://www.orpha.net/ORDO/Orphanet_209 |
Craniofaciofrontodigital syndrome | http://www.orpha.net/ORDO/Orphanet_363705 | http://www.orpha.net/ORDO/Orphanet_209 |
Occipital horn syndrome | http://www.orpha.net/ORDO/Orphanet_198 | http://www.orpha.net/ORDO/Orphanet_209 |
Arterial tortuosity syndrome | http://www.orpha.net/ORDO/Orphanet_3342 | http://www.orpha.net/ORDO/Orphanet_209 |
MACS syndrome | http://www.orpha.net/ORDO/Orphanet_217335 | http://www.orpha.net/ORDO/Orphanet_209 |
Autosomal recessive cutis laxa type 2 | http://www.orpha.net/ORDO/Orphanet_90350 | http://www.orpha.net/ORDO/Orphanet_209 |
Autosomal recessive cutis laxa type 2A | http://www.orpha.net/ORDO/Orphanet_357058 | http://www.orpha.net/ORDO/Orphanet_90350 |
Autosomal recessive cutis laxa type 2, classic type | http://www.orpha.net/ORDO/Orphanet_357074 | http://www.orpha.net/ORDO/Orphanet_357058 |
Wrinkly skin syndrome | http://www.orpha.net/ORDO/Orphanet_2834 | http://www.orpha.net/ORDO/Orphanet_357058 |
Autosomal recessive cutis laxa type 2B | http://www.orpha.net/ORDO/Orphanet_357064 | http://www.orpha.net/ORDO/Orphanet_90350 |
Autosomal dominant cutis laxa | http://www.orpha.net/ORDO/Orphanet_90348 | http://www.orpha.net/ORDO/Orphanet_209 |
Autosomal recessive cutis laxa type 1 | http://www.orpha.net/ORDO/Orphanet_90349 | http://www.orpha.net/ORDO/Orphanet_209 |
Tarsal kink syndrome | http://www.orpha.net/ORDO/Orphanet_99170 | http://www.orpha.net/ORDO/Orphanet_98568 |
Epiblepharon | http://www.orpha.net/ORDO/Orphanet_99169 | http://www.orpha.net/ORDO/Orphanet_98567 |
Genetic neuro-ophthalmological disease | http://www.orpha.net/ORDO/Orphanet_183616 | http://www.orpha.net/ORDO/Orphanet_101435 |
Congenital trigeminal anesthesia | http://www.orpha.net/ORDO/Orphanet_231013 | http://www.orpha.net/ORDO/Orphanet_183616 |
Rare strabismus and restriction syndrome | http://www.orpha.net/ORDO/Orphanet_98681 | http://www.orpha.net/ORDO/Orphanet_183616 |
Essential strabismus | http://www.orpha.net/ORDO/Orphanet_98682 | http://www.orpha.net/ORDO/Orphanet_98681 |
Syndrome with a symptomatic strabismus | http://www.orpha.net/ORDO/Orphanet_98683 | http://www.orpha.net/ORDO/Orphanet_98681 |
Craniostenosis associated with a strabismus | http://www.orpha.net/ORDO/Orphanet_98684 | http://www.orpha.net/ORDO/Orphanet_98683 |
Isolated scaphocephaly | http://www.orpha.net/ORDO/Orphanet_35093 | http://www.orpha.net/ORDO/Orphanet_98684 |
Isolated brachycephaly | http://www.orpha.net/ORDO/Orphanet_35099 | http://www.orpha.net/ORDO/Orphanet_98684 |
Isolated plagiocephaly | http://www.orpha.net/ORDO/Orphanet_35098 | http://www.orpha.net/ORDO/Orphanet_98684 |
Crouzon syndrome - acanthosis nigricans | http://www.orpha.net/ORDO/Orphanet_93262 | http://www.orpha.net/ORDO/Orphanet_98684 |
Crouzon disease | http://www.orpha.net/ORDO/Orphanet_207 | http://www.orpha.net/ORDO/Orphanet_98684 |
Isolated trigonocephaly | http://www.orpha.net/ORDO/Orphanet_3366 | http://www.orpha.net/ORDO/Orphanet_98684 |
Isolated oxycephaly | http://www.orpha.net/ORDO/Orphanet_63440 | http://www.orpha.net/ORDO/Orphanet_98684 |
Apert syndrome | http://www.orpha.net/ORDO/Orphanet_87 | http://www.orpha.net/ORDO/Orphanet_98684 |
Intellectual disability-strabismus syndrome | http://www.orpha.net/ORDO/Orphanet_363528 | http://www.orpha.net/ORDO/Orphanet_98683 |
Okihiro syndrome | http://www.orpha.net/ORDO/Orphanet_93293 | http://www.orpha.net/ORDO/Orphanet_98683 |
Horizontal gaze palsy with progressive scoliosis | http://www.orpha.net/ORDO/Orphanet_2744 | http://www.orpha.net/ORDO/Orphanet_98683 |
Moebius syndrome | http://www.orpha.net/ORDO/Orphanet_570 | http://www.orpha.net/ORDO/Orphanet_98683 |
Myopathy with eye involvement | http://www.orpha.net/ORDO/Orphanet_98689 | http://www.orpha.net/ORDO/Orphanet_183616 |
Myasthenic syndrome with eye involvement | http://www.orpha.net/ORDO/Orphanet_98690 | http://www.orpha.net/ORDO/Orphanet_98689 |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia | http://www.orpha.net/ORDO/Orphanet_363677 | http://www.orpha.net/ORDO/Orphanet_98689 |
Oculomotor apraxia or related oculomotor disease | http://www.orpha.net/ORDO/Orphanet_98688 | http://www.orpha.net/ORDO/Orphanet_183616 |
Spinocerebellar ataxia with axonal neuropathy type 2 | http://www.orpha.net/ORDO/Orphanet_64753 | http://www.orpha.net/ORDO/Orphanet_98688 |
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | http://www.orpha.net/ORDO/Orphanet_370022 | http://www.orpha.net/ORDO/Orphanet_98688 |
Ocular motor apraxia, Cogan type | http://www.orpha.net/ORDO/Orphanet_1125 | http://www.orpha.net/ORDO/Orphanet_98688 |
Ataxia - oculomotor apraxia type 1 | http://www.orpha.net/ORDO/Orphanet_1168 | http://www.orpha.net/ORDO/Orphanet_98688 |
Juvenile Huntington disease | http://www.orpha.net/ORDO/Orphanet_248111 | http://www.orpha.net/ORDO/Orphanet_98688 |
Oculomotor palsy | http://www.orpha.net/ORDO/Orphanet_98685 | http://www.orpha.net/ORDO/Orphanet_183616 |
Supranuclear oculomotor palsy | http://www.orpha.net/ORDO/Orphanet_98687 | http://www.orpha.net/ORDO/Orphanet_98685 |
Progressive supranuclear palsy | http://www.orpha.net/ORDO/Orphanet_683 | http://www.orpha.net/ORDO/Orphanet_98687 |
Classical progressive supranuclear palsy | http://www.orpha.net/ORDO/Orphanet_240071 | http://www.orpha.net/ORDO/Orphanet_683 |
Atypical progressive supranuclear palsy | http://www.orpha.net/ORDO/Orphanet_99750 | http://www.orpha.net/ORDO/Orphanet_683 |
Progressive supranuclear palsy - pure akinesia with gait freezing | http://www.orpha.net/ORDO/Orphanet_240094 | http://www.orpha.net/ORDO/Orphanet_99750 |
Progressive supranuclear palsy - parkinsonism | http://www.orpha.net/ORDO/Orphanet_240085 | http://www.orpha.net/ORDO/Orphanet_99750 |
Progressive supranuclear palsy - progressive non fluent aphasia | http://www.orpha.net/ORDO/Orphanet_240112 | http://www.orpha.net/ORDO/Orphanet_99750 |
Progressive supranuclear palsy - corticobasal syndrome | http://www.orpha.net/ORDO/Orphanet_240103 | http://www.orpha.net/ORDO/Orphanet_99750 |
Nuclear oculomotor paralysis | http://www.orpha.net/ORDO/Orphanet_100932 | http://www.orpha.net/ORDO/Orphanet_98685 |
Congenital trochlear nerve palsy | http://www.orpha.net/ORDO/Orphanet_98686 | http://www.orpha.net/ORDO/Orphanet_100932 |
Familial congenital palsy of trochlear nerve | http://www.orpha.net/ORDO/Orphanet_91498 | http://www.orpha.net/ORDO/Orphanet_98686 |
Acute intermittent porphyria | http://www.orpha.net/ORDO/Orphanet_79276 | http://www.orpha.net/ORDO/Orphanet_100932 |
Rare genetic refraction anomaly | http://www.orpha.net/ORDO/Orphanet_183601 | http://www.orpha.net/ORDO/Orphanet_101435 |
Rare hyperopia and astigmatism | http://www.orpha.net/ORDO/Orphanet_98621 | http://www.orpha.net/ORDO/Orphanet_183601 |
Syndromic hyperopia | http://www.orpha.net/ORDO/Orphanet_98622 | http://www.orpha.net/ORDO/Orphanet_98621 |
Congenital cornea plana | http://www.orpha.net/ORDO/Orphanet_53691 | http://www.orpha.net/ORDO/Orphanet_98621 |
Syndromic myopia | http://www.orpha.net/ORDO/Orphanet_98620 | http://www.orpha.net/ORDO/Orphanet_183601 |
High myopia-sensorineural deafness syndrome | http://www.orpha.net/ORDO/Orphanet_363396 | http://www.orpha.net/ORDO/Orphanet_98620 |
Muscle-eye-brain disease | http://www.orpha.net/ORDO/Orphanet_588 | http://www.orpha.net/ORDO/Orphanet_98620 |
Congenital muscular dystrophy, Fukuyama type | http://www.orpha.net/ORDO/Orphanet_272 | http://www.orpha.net/ORDO/Orphanet_98620 |
Aplasia cutis - myopia | http://www.orpha.net/ORDO/Orphanet_1117 | http://www.orpha.net/ORDO/Orphanet_98620 |
Rare isolated myopia | http://www.orpha.net/ORDO/Orphanet_98619 | http://www.orpha.net/ORDO/Orphanet_183601 |
Genetic lens and zonula anomaly | http://www.orpha.net/ORDO/Orphanet_183607 | http://www.orpha.net/ORDO/Orphanet_101435 |
Lens shape anomaly | http://www.orpha.net/ORDO/Orphanet_98655 | http://www.orpha.net/ORDO/Orphanet_183607 |
Lens size anomaly | http://www.orpha.net/ORDO/Orphanet_98652 | http://www.orpha.net/ORDO/Orphanet_183607 |
Lens position anomaly | http://www.orpha.net/ORDO/Orphanet_98653 | http://www.orpha.net/ORDO/Orphanet_183607 |
Isolated ectopia lentis | http://www.orpha.net/ORDO/Orphanet_1885 | http://www.orpha.net/ORDO/Orphanet_98653 |
Rare cataract | http://www.orpha.net/ORDO/Orphanet_98640 | http://www.orpha.net/ORDO/Orphanet_183607 |
Syndromic cataract | http://www.orpha.net/ORDO/Orphanet_98641 | http://www.orpha.net/ORDO/Orphanet_98640 |
Systemic disease with cataract | http://www.orpha.net/ORDO/Orphanet_98643 | http://www.orpha.net/ORDO/Orphanet_98641 |
Craniofacial anomaly with cataract | http://www.orpha.net/ORDO/Orphanet_98650 | http://www.orpha.net/ORDO/Orphanet_98643 |
Dentocutaneous disease with cataract | http://www.orpha.net/ORDO/Orphanet_98649 | http://www.orpha.net/ORDO/Orphanet_98643 |
Cardiac disease with cataract | http://www.orpha.net/ORDO/Orphanet_98647 | http://www.orpha.net/ORDO/Orphanet_98643 |
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy | http://www.orpha.net/ORDO/Orphanet_1369 | http://www.orpha.net/ORDO/Orphanet_98647 |
Musculoskeletal disease with cataract | http://www.orpha.net/ORDO/Orphanet_98648 | http://www.orpha.net/ORDO/Orphanet_98643 |
X-linked dominant chondrodysplasia punctata | http://www.orpha.net/ORDO/Orphanet_35173 | http://www.orpha.net/ORDO/Orphanet_98648 |
Cerebral disease with cataract | http://www.orpha.net/ORDO/Orphanet_98645 | http://www.orpha.net/ORDO/Orphanet_98643 |
Renal disease with cataract | http://www.orpha.net/ORDO/Orphanet_98646 | http://www.orpha.net/ORDO/Orphanet_98643 |
Cataract associated with a metabolic disease | http://www.orpha.net/ORDO/Orphanet_98644 | http://www.orpha.net/ORDO/Orphanet_98643 |
Juvenile cataract - microcornea - renal glucosuria | http://www.orpha.net/ORDO/Orphanet_247794 | http://www.orpha.net/ORDO/Orphanet_98641 |
Cochleosaccular degeneration - cataract | http://www.orpha.net/ORDO/Orphanet_3233 | http://www.orpha.net/ORDO/Orphanet_98641 |
Fine-Lubinsky syndrome | http://www.orpha.net/ORDO/Orphanet_1272 | http://www.orpha.net/ORDO/Orphanet_98641 |
Intellectual disability - cataracts - kyphosis | http://www.orpha.net/ORDO/Orphanet_171860 | http://www.orpha.net/ORDO/Orphanet_98641 |
Hypomyelination - congenital cataract | http://www.orpha.net/ORDO/Orphanet_85163 | http://www.orpha.net/ORDO/Orphanet_98641 |
Cataract-congenital heart disease-neural tube defect syndrome | http://www.orpha.net/ORDO/Orphanet_314993 | http://www.orpha.net/ORDO/Orphanet_98641 |
Congenital cataract-hearing loss-severe developmental delay syndrome | http://www.orpha.net/ORDO/Orphanet_300313 | http://www.orpha.net/ORDO/Orphanet_98641 |
Congenital cataract microcornea with corneal opacity | http://www.orpha.net/ORDO/Orphanet_289499 | http://www.orpha.net/ORDO/Orphanet_98641 |
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay | http://www.orpha.net/ORDO/Orphanet_330054 | http://www.orpha.net/ORDO/Orphanet_98641 |
Rare non-syndromic cataract | http://www.orpha.net/ORDO/Orphanet_217049 | http://www.orpha.net/ORDO/Orphanet_98640 |
Early-onset non-syndromic cataract | http://www.orpha.net/ORDO/Orphanet_217052 | http://www.orpha.net/ORDO/Orphanet_217049 |
Cerulean cataract | http://www.orpha.net/ORDO/Orphanet_98989 | http://www.orpha.net/ORDO/Orphanet_217052 |
Autosomal dominant childhood-onset cortical cataract | http://www.orpha.net/ORDO/Orphanet_306561 | http://www.orpha.net/ORDO/Orphanet_217052 |
Keratoconus | http://www.orpha.net/ORDO/Orphanet_156071 | http://www.orpha.net/ORDO/Orphanet_101435 |
Syndromic keratoconus | http://www.orpha.net/ORDO/Orphanet_98623 | http://www.orpha.net/ORDO/Orphanet_156071 |
Chondroectodermal dysplasia with night blindness | http://www.orpha.net/ORDO/Orphanet_319195 | http://www.orpha.net/ORDO/Orphanet_101435 |
ocular hypertension | http://www.ebi.ac.uk/efo/EFO_1001069 | http://www.ebi.ac.uk/efo/EFO_0003966 |
eye foreign body | http://www.ebi.ac.uk/efo/EFO_1001322 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Eye Injuries, Penetrating | http://www.ebi.ac.uk/efo/EFO_1001323 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Opsoclonus-Myoclonus Syndrome | http://www.ebi.ac.uk/efo/EFO_1001383 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Non-accomodative esotropia | http://purl.obolibrary.org/obo/HP_0031760 | http://www.ebi.ac.uk/efo/EFO_0003966 |
scleral disorder | http://purl.obolibrary.org/obo/MONDO_0001269 | http://www.ebi.ac.uk/efo/EFO_0003966 |
scleritis | http://purl.obolibrary.org/obo/MONDO_0001718 | http://purl.obolibrary.org/obo/MONDO_0001269 |
panophthalmitis | http://www.ebi.ac.uk/efo/EFO_1001081 | http://purl.obolibrary.org/obo/MONDO_0001718 |
coloboma | http://purl.obolibrary.org/obo/MONDO_0001476 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Coloboma of optic papilla | http://www.orpha.net/ORDO/Orphanet_98947 | http://purl.obolibrary.org/obo/MONDO_0001476 |
Coloboma of iris | http://www.orpha.net/ORDO/Orphanet_98944 | http://purl.obolibrary.org/obo/MONDO_0001476 |
Coloboma of macula | http://www.orpha.net/ORDO/Orphanet_98945 | http://purl.obolibrary.org/obo/MONDO_0001476 |
Coloboma of choroid and retina | http://www.orpha.net/ORDO/Orphanet_98942 | http://purl.obolibrary.org/obo/MONDO_0001476 |
Coloboma of eye lens | http://www.orpha.net/ORDO/Orphanet_98943 | http://purl.obolibrary.org/obo/MONDO_0001476 |
coloboma of eye lens | http://purl.obolibrary.org/obo/MONDO_0020355 | http://purl.obolibrary.org/obo/MONDO_0001476 |
coloboma of eyelid | http://purl.obolibrary.org/obo/MONDO_0020357 | http://purl.obolibrary.org/obo/MONDO_0001476 |
coloboma of macula | http://purl.obolibrary.org/obo/MONDO_0007351 | http://purl.obolibrary.org/obo/MONDO_0001476 |
coloboma of optic nerve | http://purl.obolibrary.org/obo/MONDO_0007354 | http://purl.obolibrary.org/obo/MONDO_0001476 |
coloboma, ocular, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0007350 | http://purl.obolibrary.org/obo/MONDO_0001476 |
coloboma of choroid and retina | http://purl.obolibrary.org/obo/MONDO_0020354 | http://purl.obolibrary.org/obo/MONDO_0007350 |
coloboma of iris | http://purl.obolibrary.org/obo/MONDO_0020356 | http://purl.obolibrary.org/obo/MONDO_0007350 |
globe disease | http://purl.obolibrary.org/obo/MONDO_0001524 | http://www.ebi.ac.uk/efo/EFO_0003966 |
endophthalmitis | http://purl.obolibrary.org/obo/MONDO_0016047 | http://purl.obolibrary.org/obo/MONDO_0001524 |
corneal infection | http://purl.obolibrary.org/obo/MONDO_0023865 | http://purl.obolibrary.org/obo/MONDO_0016047 |
Herpes simplex virus keratitis | http://www.ebi.ac.uk/efo/EFO_0007308 | http://purl.obolibrary.org/obo/MONDO_0023865 |
Dendritic keratitis | http://www.ebi.ac.uk/efo/EFO_1001883 | http://www.ebi.ac.uk/efo/EFO_0007308 |
Acanthamoeba keratitis | http://www.ebi.ac.uk/efo/EFO_0007126 | http://purl.obolibrary.org/obo/MONDO_0023865 |
Cytomegalovirus Retinitis | http://www.ebi.ac.uk/efo/EFO_1001302 | http://purl.obolibrary.org/obo/MONDO_0016047 |
purulent endophthalmitis | http://purl.obolibrary.org/obo/MONDO_0004863 | http://purl.obolibrary.org/obo/MONDO_0016047 |
parasitic endophthalmitis | http://purl.obolibrary.org/obo/MONDO_0024315 | http://purl.obolibrary.org/obo/MONDO_0016047 |
microcornea-glaucoma-absent frontal sinuses syndrome | http://purl.obolibrary.org/obo/MONDO_0007992 | http://www.ebi.ac.uk/efo/EFO_0003966 |
neuro-ophthalmological disease | http://purl.obolibrary.org/obo/MONDO_0015368 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Spinocerebellar ataxia with oculomotor anomaly | http://www.orpha.net/ORDO/Orphanet_98693 | http://purl.obolibrary.org/obo/MONDO_0015368 |
Autosomal recessive cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_1172 | http://www.orpha.net/ORDO/Orphanet_98693 |
Autosomal recessive ataxia, Beauce type | http://www.orpha.net/ORDO/Orphanet_88644 | http://www.orpha.net/ORDO/Orphanet_1172 |
Autosomal recessive degenerative and progressive cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_98098 | http://www.orpha.net/ORDO/Orphanet_1172 |
Posterior column ataxia - retinitis pigmentosa | http://www.orpha.net/ORDO/Orphanet_88628 | http://www.orpha.net/ORDO/Orphanet_98098 |
Early-onset cerebellar ataxia with retained tendon reflexes | http://www.orpha.net/ORDO/Orphanet_1177 | http://www.orpha.net/ORDO/Orphanet_98098 |
Autosomal recessive syndromic cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_98099 | http://www.orpha.net/ORDO/Orphanet_1172 |
Autosomal recessive cerebellar ataxia - psychomotor retardation | http://www.orpha.net/ORDO/Orphanet_284271 | http://www.orpha.net/ORDO/Orphanet_98099 |
Autosomal recessive cerebellar ataxia - blindness - deafness | http://www.orpha.net/ORDO/Orphanet_95433 | http://www.orpha.net/ORDO/Orphanet_98099 |
Autosomal recessive cerebellar ataxia - saccadic intrusion | http://www.orpha.net/ORDO/Orphanet_95434 | http://www.orpha.net/ORDO/Orphanet_98099 |
Ataxia-oculomotor apraxia type 4 | http://www.ebi.ac.uk/efo/EFO_0009016 | http://www.orpha.net/ORDO/Orphanet_98099 |
Autosomal recessive metabolic cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_98096 | http://www.orpha.net/ORDO/Orphanet_1172 |
Autosomal recessive ataxia due to PEX10 deficiency | http://www.orpha.net/ORDO/Orphanet_247815 | http://www.orpha.net/ORDO/Orphanet_98096 |
Recessive mitochondrial ataxia syndrome | http://www.orpha.net/ORDO/Orphanet_94125 | http://www.orpha.net/ORDO/Orphanet_98096 |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | http://www.orpha.net/ORDO/Orphanet_363429 | http://www.orpha.net/ORDO/Orphanet_98096 |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | http://www.orpha.net/ORDO/Orphanet_324262 | http://www.orpha.net/ORDO/Orphanet_363429 |
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | http://www.orpha.net/ORDO/Orphanet_363432 | http://www.orpha.net/ORDO/Orphanet_363429 |
Autosomal recessive cerebellar ataxia with late-onset spasticity | http://www.orpha.net/ORDO/Orphanet_352641 | http://www.orpha.net/ORDO/Orphanet_98096 |
Autosomal recessive cerebellar ataxia due to a DNA repair defect | http://www.orpha.net/ORDO/Orphanet_98097 | http://www.orpha.net/ORDO/Orphanet_1172 |
Spinocerebellar ataxia type 1 with axonal neuropathy | http://www.orpha.net/ORDO/Orphanet_94124 | http://www.orpha.net/ORDO/Orphanet_98097 |
RIDDLE syndrome | http://www.ebi.ac.uk/efo/EFO_0009055 | http://www.orpha.net/ORDO/Orphanet_98097 |
Ataxia-telangiectasia-like disorder | http://www.orpha.net/ORDO/Orphanet_251347 | http://www.orpha.net/ORDO/Orphanet_98097 |
Autosomal recessive congenital cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_98095 | http://www.orpha.net/ORDO/Orphanet_1172 |
Cerebellar ataxia, Cayman type | http://www.orpha.net/ORDO/Orphanet_94122 | http://www.orpha.net/ORDO/Orphanet_98095 |
Autosomal recessive cerebelloparenchymal disorder type 3 | http://www.orpha.net/ORDO/Orphanet_1170 | http://www.orpha.net/ORDO/Orphanet_98095 |
Dysequilibrium syndrome | http://www.orpha.net/ORDO/Orphanet_1766 | http://www.orpha.net/ORDO/Orphanet_98095 |
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_404481 | http://www.orpha.net/ORDO/Orphanet_1172 |
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency | http://www.orpha.net/ORDO/Orphanet_404493 | http://www.orpha.net/ORDO/Orphanet_404481 |
Autosomal recessive ataxia due to ubiquinone deficiency | http://www.orpha.net/ORDO/Orphanet_139485 | http://www.orpha.net/ORDO/Orphanet_1172 |
Adult-onset autosomal recessive cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_284289 | http://www.orpha.net/ORDO/Orphanet_1172 |
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_284332 | http://www.orpha.net/ORDO/Orphanet_1172 |
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_284324 | http://www.orpha.net/ORDO/Orphanet_1172 |
Spectrin-associated autosomal recessive cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_352403 | http://www.orpha.net/ORDO/Orphanet_1172 |
spinocerebellar ataxia, autosomal recessive, 27 | http://www.ebi.ac.uk/efo/EFO_0010248 | http://www.orpha.net/ORDO/Orphanet_1172 |
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | http://www.ebi.ac.uk/efo/EFO_0010249 | http://www.orpha.net/ORDO/Orphanet_1172 |
Autosomal dominant cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_99 | http://www.orpha.net/ORDO/Orphanet_98693 |
Autosomal dominant cerebellar ataxia type 2 | http://www.orpha.net/ORDO/Orphanet_208508 | http://www.orpha.net/ORDO/Orphanet_99 |
Spinocerebellar ataxia type 7 | http://www.orpha.net/ORDO/Orphanet_94147 | http://www.orpha.net/ORDO/Orphanet_208508 |
Autosomal dominant cerebellar ataxia type 3 | http://www.orpha.net/ORDO/Orphanet_94148 | http://www.orpha.net/ORDO/Orphanet_99 |
Spinocerebellar ataxia type 5 | http://www.orpha.net/ORDO/Orphanet_98766 | http://www.orpha.net/ORDO/Orphanet_94148 |
Spinocerebellar ataxia type 11 | http://www.orpha.net/ORDO/Orphanet_98767 | http://www.orpha.net/ORDO/Orphanet_94148 |
Spinocerebellar ataxia type 6 | http://www.orpha.net/ORDO/Orphanet_98758 | http://www.orpha.net/ORDO/Orphanet_94148 |
Spinocerebellar ataxia type 26 | http://www.orpha.net/ORDO/Orphanet_101112 | http://www.orpha.net/ORDO/Orphanet_94148 |
Spinocerebellar ataxia type 30 | http://www.orpha.net/ORDO/Orphanet_211017 | http://www.orpha.net/ORDO/Orphanet_94148 |
Spinocerebellar ataxia type 31 | http://www.orpha.net/ORDO/Orphanet_217012 | http://www.orpha.net/ORDO/Orphanet_94148 |
Spinocerebellar ataxia type 42 | http://www.ebi.ac.uk/efo/EFO_0009059 | http://www.orpha.net/ORDO/Orphanet_94148 |
Spinocerebellar ataxia type 41 | http://www.ebi.ac.uk/efo/EFO_0009058 | http://www.orpha.net/ORDO/Orphanet_94148 |
Spinocerebellar ataxia type 38 | http://www.ebi.ac.uk/efo/EFO_0009056 | http://www.orpha.net/ORDO/Orphanet_94148 |
Autosomal dominant cerebellar ataxia type 4 | http://www.orpha.net/ORDO/Orphanet_94149 | http://www.orpha.net/ORDO/Orphanet_99 |
Spinocerebellar ataxia type 10 | http://www.orpha.net/ORDO/Orphanet_98761 | http://www.orpha.net/ORDO/Orphanet_94149 |
Dentatorubral pallidoluysian atrophy | http://www.orpha.net/ORDO/Orphanet_101 | http://www.orpha.net/ORDO/Orphanet_94149 |
Autosomal dominant cerebellar ataxia type 1 | http://www.orpha.net/ORDO/Orphanet_94145 | http://www.orpha.net/ORDO/Orphanet_99 |
Spinocerebellar ataxia type 29 | http://www.orpha.net/ORDO/Orphanet_208513 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 21 | http://www.orpha.net/ORDO/Orphanet_98773 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 18 | http://www.orpha.net/ORDO/Orphanet_98771 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 19/22 | http://www.orpha.net/ORDO/Orphanet_98772 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 13 | http://www.orpha.net/ORDO/Orphanet_98768 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 15/16 | http://www.orpha.net/ORDO/Orphanet_98769 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 27 | http://www.orpha.net/ORDO/Orphanet_98764 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 4 | http://www.orpha.net/ORDO/Orphanet_98765 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 12 | http://www.orpha.net/ORDO/Orphanet_98762 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 14 | http://www.orpha.net/ORDO/Orphanet_98763 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 8 | http://www.orpha.net/ORDO/Orphanet_98760 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 17 | http://www.orpha.net/ORDO/Orphanet_98759 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 3 | http://www.orpha.net/ORDO/Orphanet_98757 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 1 | http://www.orpha.net/ORDO/Orphanet_98755 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 2 | http://www.orpha.net/ORDO/Orphanet_98756 | http://www.orpha.net/ORDO/Orphanet_94145 |
Non-progressive cerebellar ataxia with intellectual disability | http://www.orpha.net/ORDO/Orphanet_314647 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 37 | http://www.orpha.net/ORDO/Orphanet_363710 | http://www.orpha.net/ORDO/Orphanet_94145 |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy | http://www.orpha.net/ORDO/Orphanet_314404 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 32 | http://www.orpha.net/ORDO/Orphanet_276183 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 36 | http://www.orpha.net/ORDO/Orphanet_276198 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 35 | http://www.orpha.net/ORDO/Orphanet_276193 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 25 | http://www.orpha.net/ORDO/Orphanet_101111 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 20 | http://www.orpha.net/ORDO/Orphanet_101110 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 23 | http://www.orpha.net/ORDO/Orphanet_101108 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 28 | http://www.orpha.net/ORDO/Orphanet_101109 | http://www.orpha.net/ORDO/Orphanet_94145 |
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss | http://www.orpha.net/ORDO/Orphanet_1171 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 40 | http://www.ebi.ac.uk/efo/EFO_0009057 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 43 | http://www.ebi.ac.uk/efo/EFO_0009060 | http://www.orpha.net/ORDO/Orphanet_94145 |
spinocerebellar ataxia 48 | http://www.ebi.ac.uk/efo/EFO_0010251 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar ataxia type 34 | http://www.orpha.net/ORDO/Orphanet_1955 | http://www.orpha.net/ORDO/Orphanet_94145 |
Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly | http://www.orpha.net/ORDO/Orphanet_98694 | http://purl.obolibrary.org/obo/MONDO_0015368 |
childhood-onset autosomal recessive myopathy with external ophthalmoplegia | http://purl.obolibrary.org/obo/MONDO_0018206 | http://purl.obolibrary.org/obo/MONDO_0015368 |
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0033864 | http://purl.obolibrary.org/obo/MONDO_0015368 |
GM1 gangliosidosis | http://purl.obolibrary.org/obo/MONDO_0018149 | http://purl.obolibrary.org/obo/MONDO_0015368 |
GM1 gangliosidosis type 1 | http://purl.obolibrary.org/obo/MONDO_0009260 | http://purl.obolibrary.org/obo/MONDO_0018149 |
GM1 gangliosidosis type 2 | http://purl.obolibrary.org/obo/MONDO_0009261 | http://purl.obolibrary.org/obo/MONDO_0018149 |
GM1 gangliosidosis type 3 | http://purl.obolibrary.org/obo/MONDO_0009262 | http://purl.obolibrary.org/obo/MONDO_0018149 |
intellectual disability-strabismus syndrome | http://purl.obolibrary.org/obo/MONDO_0014119 | http://purl.obolibrary.org/obo/MONDO_0015368 |
Friedreich ataxia | http://purl.obolibrary.org/obo/MONDO_0100339 | http://purl.obolibrary.org/obo/MONDO_0015368 |
global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0024252 | http://purl.obolibrary.org/obo/MONDO_0015368 |
Adult-onset autosomal dominant leukodystrophy | http://www.orpha.net/ORDO/Orphanet_99027 | http://purl.obolibrary.org/obo/MONDO_0015368 |
microcephaly and chorioretinopathy 1 | http://purl.obolibrary.org/obo/MONDO_0009624 | http://purl.obolibrary.org/obo/MONDO_0015368 |
Duchenne muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0010679 | http://purl.obolibrary.org/obo/MONDO_0015368 |
CADASIL | http://www.orpha.net/ORDO/Orphanet_136 | http://purl.obolibrary.org/obo/MONDO_0015368 |
congenital fibrosis of extraocular muscles | http://purl.obolibrary.org/obo/MONDO_0007614 | http://purl.obolibrary.org/obo/MONDO_0015368 |
autosomal dominant cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0020380 | http://purl.obolibrary.org/obo/MONDO_0015368 |
autosomal dominant cerebellar ataxia type IV | http://purl.obolibrary.org/obo/MONDO_0019794 | http://purl.obolibrary.org/obo/MONDO_0020380 |
spinocerebellar ataxia type 10 | http://purl.obolibrary.org/obo/MONDO_0011330 | http://purl.obolibrary.org/obo/MONDO_0019794 |
dentatorubral-pallidoluysian atrophy | http://purl.obolibrary.org/obo/MONDO_0007435 | http://purl.obolibrary.org/obo/MONDO_0019794 |
autosomal dominant cerebellar ataxia type I | http://purl.obolibrary.org/obo/MONDO_0019792 | http://purl.obolibrary.org/obo/MONDO_0020380 |
nonprogressive cerebellar atxia with intellectual disability | http://purl.obolibrary.org/obo/MONDO_0013886 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 14 | http://purl.obolibrary.org/obo/MONDO_0011540 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 13 | http://purl.obolibrary.org/obo/MONDO_0011529 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 12 | http://purl.obolibrary.org/obo/MONDO_0011439 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 17 | http://purl.obolibrary.org/obo/MONDO_0011781 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 1 | http://purl.obolibrary.org/obo/MONDO_0008119 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 15/16 | http://purl.obolibrary.org/obo/MONDO_0011694 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 21 | http://purl.obolibrary.org/obo/MONDO_0011833 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 18 | http://purl.obolibrary.org/obo/MONDO_0011834 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 19/22 | http://purl.obolibrary.org/obo/MONDO_0011819 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 35 | http://purl.obolibrary.org/obo/MONDO_0013485 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 32 | http://purl.obolibrary.org/obo/MONDO_0013486 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 36 | http://purl.obolibrary.org/obo/MONDO_0013594 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 4 | http://purl.obolibrary.org/obo/MONDO_0010847 | http://purl.obolibrary.org/obo/MONDO_0019792 |
Machado-Joseph disease | http://purl.obolibrary.org/obo/MONDO_0007182 | http://purl.obolibrary.org/obo/MONDO_0019792 |
Machado-Joseph disease type 3 | http://purl.obolibrary.org/obo/MONDO_0017176 | http://purl.obolibrary.org/obo/MONDO_0007182 |
Machado-Joseph disease type 2 | http://purl.obolibrary.org/obo/MONDO_0017175 | http://purl.obolibrary.org/obo/MONDO_0007182 |
Machado-Joseph disease type 1 | http://purl.obolibrary.org/obo/MONDO_0017174 | http://purl.obolibrary.org/obo/MONDO_0007182 |
spinocerebellar ataxia type 29 | http://purl.obolibrary.org/obo/MONDO_0007298 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 34 | http://purl.obolibrary.org/obo/MONDO_0007574 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 23 | http://purl.obolibrary.org/obo/MONDO_0012449 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 37 | http://purl.obolibrary.org/obo/MONDO_0014410 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 20 | http://purl.obolibrary.org/obo/MONDO_0012098 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 8 | http://purl.obolibrary.org/obo/MONDO_0012116 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 25 | http://purl.obolibrary.org/obo/MONDO_0012103 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 27 | http://purl.obolibrary.org/obo/MONDO_0012247 | http://purl.obolibrary.org/obo/MONDO_0019792 |
spinocerebellar ataxia type 2 | http://purl.obolibrary.org/obo/MONDO_0008458 | http://purl.obolibrary.org/obo/MONDO_0019792 |
autosomal dominant cerebellar ataxia type III | http://purl.obolibrary.org/obo/MONDO_0019793 | http://purl.obolibrary.org/obo/MONDO_0020380 |
spinocerebellar ataxia type 11 | http://purl.obolibrary.org/obo/MONDO_0011464 | http://purl.obolibrary.org/obo/MONDO_0019793 |
spinocerebellar ataxia type 30 | http://purl.obolibrary.org/obo/MONDO_0013241 | http://purl.obolibrary.org/obo/MONDO_0019793 |
spinocerebellar ataxia type 5 | http://purl.obolibrary.org/obo/MONDO_0010848 | http://purl.obolibrary.org/obo/MONDO_0019793 |
spinocerebellar ataxia type 31 | http://purl.obolibrary.org/obo/MONDO_0007296 | http://purl.obolibrary.org/obo/MONDO_0019793 |
spinocerebellar ataxia type 42 | http://purl.obolibrary.org/obo/MONDO_0014776 | http://purl.obolibrary.org/obo/MONDO_0019793 |
spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits | http://purl.obolibrary.org/obo/MONDO_0060758 | http://purl.obolibrary.org/obo/MONDO_0014776 |
spinocerebellar ataxia type 26 | http://purl.obolibrary.org/obo/MONDO_0012246 | http://purl.obolibrary.org/obo/MONDO_0019793 |
spinocerebellar ataxia type 6 | http://purl.obolibrary.org/obo/MONDO_0008457 | http://purl.obolibrary.org/obo/MONDO_0019793 |
autosomal dominant cerebellar ataxia type II | http://purl.obolibrary.org/obo/MONDO_0016163 | http://purl.obolibrary.org/obo/MONDO_0020380 |
spinocerebellar ataxia type 7 | http://purl.obolibrary.org/obo/MONDO_0008120 | http://purl.obolibrary.org/obo/MONDO_0016163 |
spinocerebellar ataxia 47 | http://purl.obolibrary.org/obo/MONDO_0033482 | http://purl.obolibrary.org/obo/MONDO_0020380 |
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy | http://purl.obolibrary.org/obo/MONDO_0007432 | http://purl.obolibrary.org/obo/MONDO_0015368 |
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | http://purl.obolibrary.org/obo/MONDO_0014768 | http://purl.obolibrary.org/obo/MONDO_0007432 |
CARASIL syndrome | http://purl.obolibrary.org/obo/MONDO_0010829 | http://purl.obolibrary.org/obo/MONDO_0014768 |
congenital trigeminal anesthesia | http://purl.obolibrary.org/obo/MONDO_0007384 | http://purl.obolibrary.org/obo/MONDO_0015368 |
essential strabismus | http://purl.obolibrary.org/obo/MONDO_0020252 | http://purl.obolibrary.org/obo/MONDO_0015368 |
ocular motor apraxia, Cogan type | http://purl.obolibrary.org/obo/MONDO_0009764 | http://purl.obolibrary.org/obo/MONDO_0015368 |
myotonic dystrophy type 1 | http://purl.obolibrary.org/obo/MONDO_0008056 | http://purl.obolibrary.org/obo/MONDO_0015368 |
Autosomal recessive primary microcephaly | http://www.orpha.net/ORDO/Orphanet_2512 | http://purl.obolibrary.org/obo/MONDO_0015368 |
Niemann-Pick disease type A | http://purl.obolibrary.org/obo/MONDO_0009756 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Netherton syndrome | http://purl.obolibrary.org/obo/MONDO_0009735 | http://www.ebi.ac.uk/efo/EFO_0003966 |
eye hemorrhage | http://www.ebi.ac.uk/efo/EFO_0008627 | http://www.ebi.ac.uk/efo/EFO_0003966 |
vitreous hemorrhage | http://www.ebi.ac.uk/efo/EFO_0008626 | http://www.ebi.ac.uk/efo/EFO_0008627 |
vitreous body disease | http://www.ebi.ac.uk/efo/EFO_0008624 | http://www.ebi.ac.uk/efo/EFO_0003966 |
vitreous prolapse | http://www.ebi.ac.uk/efo/EFO_0008625 | http://www.ebi.ac.uk/efo/EFO_0008624 |
Hyalitis | http://www.ebi.ac.uk/efo/EFO_0008628 | http://www.ebi.ac.uk/efo/EFO_0008624 |
inherited vitreous-retinal disease | http://purl.obolibrary.org/obo/MONDO_0020238 | http://www.ebi.ac.uk/efo/EFO_0008624 |
familial retinal arterial macroaneurysm | http://purl.obolibrary.org/obo/MONDO_0013640 | http://purl.obolibrary.org/obo/MONDO_0020238 |
Senior-Loken syndrome | http://purl.obolibrary.org/obo/MONDO_0017842 | http://purl.obolibrary.org/obo/MONDO_0020238 |
inherited retinal dystrophy | http://purl.obolibrary.org/obo/MONDO_0019118 | http://purl.obolibrary.org/obo/MONDO_0020238 |
infantile cerebellar-retinal degeneration | http://purl.obolibrary.org/obo/MONDO_0013802 | http://purl.obolibrary.org/obo/MONDO_0019118 |
aceruloplasminemia | http://purl.obolibrary.org/obo/MONDO_0011426 | http://purl.obolibrary.org/obo/MONDO_0019118 |
late-onset retinal degeneration | http://purl.obolibrary.org/obo/MONDO_0011579 | http://purl.obolibrary.org/obo/MONDO_0019118 |
pigmented paravenous retinochoroidal atrophy | http://purl.obolibrary.org/obo/MONDO_0008246 | http://purl.obolibrary.org/obo/MONDO_0019118 |
cone-rod dystrophy | http://purl.obolibrary.org/obo/MONDO_0015993 | http://purl.obolibrary.org/obo/MONDO_0019118 |
cone dystrophy 3 | http://purl.obolibrary.org/obo/MONDO_0011193 | http://purl.obolibrary.org/obo/MONDO_0015993 |
X-linked cone-rod dystrophy | http://purl.obolibrary.org/obo/MONDO_0021155 | http://purl.obolibrary.org/obo/MONDO_0015993 |
blue cone monochromacy | http://purl.obolibrary.org/obo/MONDO_0010563 | http://purl.obolibrary.org/obo/MONDO_0021155 |
ectopia lentis-chorioretinal dystrophy-myopia syndrome | http://purl.obolibrary.org/obo/MONDO_0015997 | http://purl.obolibrary.org/obo/MONDO_0019118 |
age-related macular degeneration | http://www.ebi.ac.uk/efo/EFO_0001365 | http://purl.obolibrary.org/obo/MONDO_0019118 |
wet macular degeneration | http://www.ebi.ac.uk/efo/EFO_0004683 | http://www.ebi.ac.uk/efo/EFO_0001365 |
atrophic macular degeneration | http://www.ebi.ac.uk/efo/EFO_1001492 | http://www.ebi.ac.uk/efo/EFO_0001365 |
Stargardt disease | http://purl.obolibrary.org/obo/MONDO_0019353 | http://www.ebi.ac.uk/efo/EFO_0001365 |
severe early-childhood-onset retinal dystrophy | http://purl.obolibrary.org/obo/MONDO_0009549 | http://purl.obolibrary.org/obo/MONDO_0019353 |
macular dystrophy with central cone involvement | http://purl.obolibrary.org/obo/MONDO_0014515 | http://www.ebi.ac.uk/efo/EFO_0001365 |
dry age related macular degeneration | http://purl.obolibrary.org/obo/MONDO_0100114 | http://www.ebi.ac.uk/efo/EFO_0001365 |
choroideremia-hypopituitarism syndrome | http://purl.obolibrary.org/obo/MONDO_0015429 | http://purl.obolibrary.org/obo/MONDO_0019118 |
ornithine aminotransferase deficiency | http://purl.obolibrary.org/obo/MONDO_0009796 | http://purl.obolibrary.org/obo/MONDO_0019118 |
X-linked retinal dysplasia | http://purl.obolibrary.org/obo/MONDO_0010722 | http://purl.obolibrary.org/obo/MONDO_0019118 |
genetic macular dystrophy | http://purl.obolibrary.org/obo/MONDO_0020242 | http://purl.obolibrary.org/obo/MONDO_0019118 |
retinal macular dystrophy type 2 | http://purl.obolibrary.org/obo/MONDO_0011957 | http://purl.obolibrary.org/obo/MONDO_0020242 |
occult macular dystrophy | http://purl.obolibrary.org/obo/MONDO_0013316 | http://purl.obolibrary.org/obo/MONDO_0020242 |
benign concentric annular macular dystrophy | http://purl.obolibrary.org/obo/MONDO_0007934 | http://purl.obolibrary.org/obo/MONDO_0020242 |
coloboma of macula-brachydactyly type B syndrome | http://purl.obolibrary.org/obo/MONDO_0007353 | http://purl.obolibrary.org/obo/MONDO_0020242 |
North Carolina macular dystrophy | http://purl.obolibrary.org/obo/MONDO_0007630 | http://purl.obolibrary.org/obo/MONDO_0020242 |
cone dystrophy | http://purl.obolibrary.org/obo/MONDO_0000455 | http://purl.obolibrary.org/obo/MONDO_0020242 |
cone dystrophy with supernormal rod response | http://purl.obolibrary.org/obo/MONDO_0012475 | http://purl.obolibrary.org/obo/MONDO_0000455 |
macular corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0009020 | http://purl.obolibrary.org/obo/MONDO_0020242 |
renal hypomagnesemia 5 with ocular involvement | http://purl.obolibrary.org/obo/MONDO_0009548 | http://purl.obolibrary.org/obo/MONDO_0020242 |
vitelliform macular dystrophy | http://purl.obolibrary.org/obo/MONDO_0000390 | http://purl.obolibrary.org/obo/MONDO_0020242 |
adult-onset foveomacular vitelliform dystrophy | http://purl.obolibrary.org/obo/MONDO_0011979 | http://purl.obolibrary.org/obo/MONDO_0000390 |
vitelliform macular dystrophy 2 | http://purl.obolibrary.org/obo/MONDO_0007931 | http://purl.obolibrary.org/obo/MONDO_0000390 |
patterned dystrophy of the retinal pigment epithelium | http://purl.obolibrary.org/obo/MONDO_0018973 | http://purl.obolibrary.org/obo/MONDO_0020242 |
reticular dystrophy of the retinal pigment epithelium | http://purl.obolibrary.org/obo/MONDO_0009979 | http://purl.obolibrary.org/obo/MONDO_0018973 |
fundus pulverulentus | http://purl.obolibrary.org/obo/MONDO_0020383 | http://purl.obolibrary.org/obo/MONDO_0018973 |
patterned macular dystrophy | http://purl.obolibrary.org/obo/MONDO_0020381 | http://purl.obolibrary.org/obo/MONDO_0018973 |
patterned macular dystrophy 1 | http://purl.obolibrary.org/obo/MONDO_0008210 | http://purl.obolibrary.org/obo/MONDO_0020381 |
multifocal pattern dystrophy simulating fundus flavimaculatus | http://purl.obolibrary.org/obo/MONDO_0020382 | http://purl.obolibrary.org/obo/MONDO_0018973 |
familial flecked retinopathy | http://purl.obolibrary.org/obo/MONDO_0016420 | http://purl.obolibrary.org/obo/MONDO_0020242 |
Doyne honeycomb retinal dystrophy | http://purl.obolibrary.org/obo/MONDO_0007471 | http://purl.obolibrary.org/obo/MONDO_0016420 |
fundus albipunctatus | http://purl.obolibrary.org/obo/MONDO_0007639 | http://purl.obolibrary.org/obo/MONDO_0016420 |
retinitis punctata albescens | http://purl.obolibrary.org/obo/MONDO_0018877 | http://purl.obolibrary.org/obo/MONDO_0007639 |
Kandori fleck retina | http://purl.obolibrary.org/obo/MONDO_0009236 | http://purl.obolibrary.org/obo/MONDO_0016420 |
Bietti crystalline corneoretinal dystrophy | http://purl.obolibrary.org/obo/MONDO_0008865 | http://purl.obolibrary.org/obo/MONDO_0016420 |
retinitis pigmentosa | http://purl.obolibrary.org/obo/MONDO_0019200 | http://purl.obolibrary.org/obo/MONDO_0019118 |
retinitis pigmentosa 88 | http://purl.obolibrary.org/obo/MONDO_0032940 | http://purl.obolibrary.org/obo/MONDO_0019200 |
syndromic retinitis pigmentosa | http://purl.obolibrary.org/obo/MONDO_0020240 | http://purl.obolibrary.org/obo/MONDO_0019200 |
RHYNS syndrome | http://purl.obolibrary.org/obo/MONDO_0011202 | http://purl.obolibrary.org/obo/MONDO_0020240 |
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome | http://purl.obolibrary.org/obo/MONDO_0008023 | http://purl.obolibrary.org/obo/MONDO_0020240 |
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome | http://purl.obolibrary.org/obo/MONDO_0017804 | http://purl.obolibrary.org/obo/MONDO_0020240 |
oculotrichodysplasia | http://purl.obolibrary.org/obo/MONDO_0009771 | http://purl.obolibrary.org/obo/MONDO_0020240 |
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0010051 | http://purl.obolibrary.org/obo/MONDO_0020240 |
pantothenate kinase-associated neurodegeneration | http://purl.obolibrary.org/obo/MONDO_0009319 | http://purl.obolibrary.org/obo/MONDO_0020240 |
atypical pantothenate kinase-associated neurodegeneration | http://purl.obolibrary.org/obo/MONDO_0016305 | http://purl.obolibrary.org/obo/MONDO_0009319 |
classic pantothenate kinase-associated neurodegeneration | http://purl.obolibrary.org/obo/MONDO_0016304 | http://purl.obolibrary.org/obo/MONDO_0009319 |
retinitis pigmentosa 71 | http://purl.obolibrary.org/obo/MONDO_0014618 | http://purl.obolibrary.org/obo/MONDO_0019200 |
retinitis pigmentosa 32 | http://purl.obolibrary.org/obo/MONDO_0012363 | http://purl.obolibrary.org/obo/MONDO_0019200 |
retinitis pigmentosa 90 | http://purl.obolibrary.org/obo/MONDO_0033563 | http://purl.obolibrary.org/obo/MONDO_0019200 |
helicoid peripapillary chorioretinal degeneration | http://purl.obolibrary.org/obo/MONDO_0007176 | http://purl.obolibrary.org/obo/MONDO_0019118 |
Oguchi disease | http://purl.obolibrary.org/obo/MONDO_0019152 | http://purl.obolibrary.org/obo/MONDO_0019118 |
oligocone trichromacy | http://purl.obolibrary.org/obo/MONDO_0019151 | http://purl.obolibrary.org/obo/MONDO_0019118 |
Revesz syndrome | http://purl.obolibrary.org/obo/MONDO_0009990 | http://purl.obolibrary.org/obo/MONDO_0019118 |
retinal degeneration-nanophthalmos-glaucoma syndrome | http://purl.obolibrary.org/obo/MONDO_0009978 | http://purl.obolibrary.org/obo/MONDO_0019118 |
progressive bifocal chorioretinal atrophy | http://purl.obolibrary.org/obo/MONDO_0010932 | http://purl.obolibrary.org/obo/MONDO_0019118 |
Sorsby fundus dystrophy | http://purl.obolibrary.org/obo/MONDO_0007640 | http://purl.obolibrary.org/obo/MONDO_0019118 |
autosomal recessive bestrophinopathy | http://purl.obolibrary.org/obo/MONDO_0012733 | http://purl.obolibrary.org/obo/MONDO_0019118 |
inherited macular dystrophy | http://www.ebi.ac.uk/efo/EFO_0020937 | http://purl.obolibrary.org/obo/MONDO_0019118 |
familial benign flecked retina | http://purl.obolibrary.org/obo/MONDO_0009235 | http://purl.obolibrary.org/obo/MONDO_0019118 |
choroideremia | http://purl.obolibrary.org/obo/MONDO_0010557 | http://purl.obolibrary.org/obo/MONDO_0019118 |
MRCS syndrome | http://purl.obolibrary.org/obo/MONDO_0016979 | http://purl.obolibrary.org/obo/MONDO_0019118 |
Central areolar choroidal dystrophy | http://www.orpha.net/ORDO/Orphanet_75377 | http://purl.obolibrary.org/obo/MONDO_0019118 |
retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies | http://purl.obolibrary.org/obo/MONDO_0014483 | http://purl.obolibrary.org/obo/MONDO_0019118 |
foveal hypoplasia-presenile cataract syndrome | http://purl.obolibrary.org/obo/MONDO_0016395 | http://purl.obolibrary.org/obo/MONDO_0019118 |
Leber congenital amaurosis | http://purl.obolibrary.org/obo/MONDO_0018998 | http://purl.obolibrary.org/obo/MONDO_0019118 |
Leber congenital amaurosis with early-onset deafness | http://purl.obolibrary.org/obo/MONDO_0060650 | http://purl.obolibrary.org/obo/MONDO_0018998 |
progressive retinal dystrophy due to retinol transport defect | http://purl.obolibrary.org/obo/MONDO_0014060 | http://purl.obolibrary.org/obo/MONDO_0019118 |
RLBP1-related retinopathy | http://purl.obolibrary.org/obo/MONDO_0100444 | http://purl.obolibrary.org/obo/MONDO_0019118 |
Bothnia retinal dystrophy | http://purl.obolibrary.org/obo/MONDO_0011838 | http://purl.obolibrary.org/obo/MONDO_0100444 |
RDH5-related retinopathy | http://purl.obolibrary.org/obo/MONDO_0100443 | http://purl.obolibrary.org/obo/MONDO_0019118 |
FLVCR1-related retinopathy with or without ataxia | http://purl.obolibrary.org/obo/MONDO_0100449 | http://purl.obolibrary.org/obo/MONDO_0019118 |
posterior column ataxia-retinitis pigmentosa syndrome | http://purl.obolibrary.org/obo/MONDO_0012177 | http://purl.obolibrary.org/obo/MONDO_0100449 |
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | http://purl.obolibrary.org/obo/MONDO_0008641 | http://purl.obolibrary.org/obo/MONDO_0019118 |
amaurosis-hypertrichosis syndrome | http://purl.obolibrary.org/obo/MONDO_0008766 | http://purl.obolibrary.org/obo/MONDO_0019118 |
Coloboma of macula - brachydactyly type B | http://www.orpha.net/ORDO/Orphanet_1471 | http://purl.obolibrary.org/obo/MONDO_0019118 |
disease predisposing to age-related macular degeneration | http://purl.obolibrary.org/obo/MONDO_0020245 | http://purl.obolibrary.org/obo/MONDO_0020238 |
inherited vitreoretinopathy | http://purl.obolibrary.org/obo/MONDO_0020246 | http://purl.obolibrary.org/obo/MONDO_0020238 |
congenital vitreoretinal dysplasia | http://purl.obolibrary.org/obo/MONDO_0020247 | http://purl.obolibrary.org/obo/MONDO_0020246 |
spondylo-ocular syndrome | http://purl.obolibrary.org/obo/MONDO_0011604 | http://purl.obolibrary.org/obo/MONDO_0020247 |
osteoporosis-pseudoglioma syndrome | http://purl.obolibrary.org/obo/MONDO_0009820 | http://purl.obolibrary.org/obo/MONDO_0020247 |
persistent hyperplastic primary vitreous | http://purl.obolibrary.org/obo/MONDO_0019631 | http://purl.obolibrary.org/obo/MONDO_0020247 |
persistent hyperplastic primary vitreous, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0009097 | http://purl.obolibrary.org/obo/MONDO_0019631 |
Coats disease | http://purl.obolibrary.org/obo/MONDO_0010269 | http://purl.obolibrary.org/obo/MONDO_0020247 |
incontinentia pigmenti | http://purl.obolibrary.org/obo/MONDO_0010631 | http://purl.obolibrary.org/obo/MONDO_0020247 |
vitreoretinal degeneration | http://purl.obolibrary.org/obo/MONDO_0020248 | http://purl.obolibrary.org/obo/MONDO_0020246 |
Knobloch syndrome | http://purl.obolibrary.org/obo/MONDO_0009977 | http://purl.obolibrary.org/obo/MONDO_0020248 |
exudative vitreoretinopathy | http://purl.obolibrary.org/obo/MONDO_0019516 | http://purl.obolibrary.org/obo/MONDO_0020248 |
Wagner disease | http://purl.obolibrary.org/obo/MONDO_0007740 | http://purl.obolibrary.org/obo/MONDO_0020248 |
Goldmann-Favre syndrome | http://purl.obolibrary.org/obo/MONDO_0100289 | http://purl.obolibrary.org/obo/MONDO_0020248 |
autosomal dominant vitreoretinochoroidopathy | http://purl.obolibrary.org/obo/MONDO_0008662 | http://purl.obolibrary.org/obo/MONDO_0020248 |
snowflake vitreoretinal degeneration | http://purl.obolibrary.org/obo/MONDO_0008663 | http://purl.obolibrary.org/obo/MONDO_0020248 |
CAPN5-related vitreoretinopathy | http://purl.obolibrary.org/obo/MONDO_0100450 | http://purl.obolibrary.org/obo/MONDO_0020246 |
bradyopsia | http://purl.obolibrary.org/obo/MONDO_0012033 | http://purl.obolibrary.org/obo/MONDO_0020238 |
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome | http://purl.obolibrary.org/obo/MONDO_0012216 | http://purl.obolibrary.org/obo/MONDO_0020238 |
myopic macular degeneration | http://www.ebi.ac.uk/efo/EFO_0009201 | http://purl.obolibrary.org/obo/MONDO_0020238 |
vitreous disorder | http://purl.obolibrary.org/obo/MONDO_0004860 | http://www.ebi.ac.uk/efo/EFO_0008624 |
vitreous syneresis | http://purl.obolibrary.org/obo/MONDO_0001377 | http://purl.obolibrary.org/obo/MONDO_0004860 |
lens shape anomaly | http://purl.obolibrary.org/obo/MONDO_0020237 | http://www.ebi.ac.uk/efo/EFO_0003966 |
hereditary optic neuropathy | http://purl.obolibrary.org/obo/MONDO_0020249 | http://www.ebi.ac.uk/efo/EFO_0003966 |
optic nerve edema-splenomegaly syndrome | http://purl.obolibrary.org/obo/MONDO_0013999 | http://purl.obolibrary.org/obo/MONDO_0020249 |
isolated optic nerve hypoplasia | http://purl.obolibrary.org/obo/MONDO_0008136 | http://purl.obolibrary.org/obo/MONDO_0020249 |
syndromic optic nerve hypoplasia | http://purl.obolibrary.org/obo/MONDO_0015310 | http://purl.obolibrary.org/obo/MONDO_0020249 |
autosomal dominant optic atrophy | http://purl.obolibrary.org/obo/MONDO_0020250 | http://purl.obolibrary.org/obo/MONDO_0020249 |
autosomal recessive osteopetrosis | http://purl.obolibrary.org/obo/MONDO_0019026 | http://purl.obolibrary.org/obo/MONDO_0020249 |
leukocyte adhesion deficiency 3 | http://purl.obolibrary.org/obo/MONDO_0013016 | http://purl.obolibrary.org/obo/MONDO_0019026 |
autosomal recessive osteopetrosis 1 | http://purl.obolibrary.org/obo/MONDO_0009815 | http://purl.obolibrary.org/obo/MONDO_0019026 |
autosomal recessive osteopetrosis 2 | http://purl.obolibrary.org/obo/MONDO_0009816 | http://purl.obolibrary.org/obo/MONDO_0019026 |
autosomal recessive osteopetrosis 3 | http://purl.obolibrary.org/obo/MONDO_0009818 | http://purl.obolibrary.org/obo/MONDO_0019026 |
autosomal recessive osteopetrosis 4 | http://purl.obolibrary.org/obo/MONDO_0012676 | http://purl.obolibrary.org/obo/MONDO_0019026 |
autosomal recessive osteopetrosis 6 | http://purl.obolibrary.org/obo/MONDO_0012679 | http://purl.obolibrary.org/obo/MONDO_0019026 |
autosomal recessive osteopetrosis 7 | http://purl.obolibrary.org/obo/MONDO_0012859 | http://purl.obolibrary.org/obo/MONDO_0019026 |
Spastic paraplegia type 2 | http://www.orpha.net/ORDO/Orphanet_99015 | http://purl.obolibrary.org/obo/MONDO_0020249 |
autosomal recessive optic atrophy | http://purl.obolibrary.org/obo/MONDO_0014753 | http://purl.obolibrary.org/obo/MONDO_0020249 |
optic atrophy 6 | http://purl.obolibrary.org/obo/MONDO_0009786 | http://purl.obolibrary.org/obo/MONDO_0014753 |
syndromic hereditary optic neuropathy | http://purl.obolibrary.org/obo/MONDO_0018609 | http://purl.obolibrary.org/obo/MONDO_0020249 |
Early-onset X-linked optic atrophy | http://www.orpha.net/ORDO/Orphanet_98890 | http://purl.obolibrary.org/obo/MONDO_0018609 |
GAPO syndrome | http://www.orpha.net/ORDO/Orphanet_2067 | http://purl.obolibrary.org/obo/MONDO_0018609 |
neurodegeneration with brain iron accumulation 4 | http://purl.obolibrary.org/obo/MONDO_0013674 | http://purl.obolibrary.org/obo/MONDO_0018609 |
3-methylglutaconic aciduria type 3 | http://purl.obolibrary.org/obo/MONDO_0009787 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Pelizaeus-Merzbacher disease | http://purl.obolibrary.org/obo/MONDO_0010714 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Null syndrome | http://www.orpha.net/ORDO/Orphanet_280234 | http://purl.obolibrary.org/obo/MONDO_0010714 |
Pelizaeus-Merzbacher disease, connatal form | http://purl.obolibrary.org/obo/MONDO_0017221 | http://purl.obolibrary.org/obo/MONDO_0010714 |
null syndrome | http://purl.obolibrary.org/obo/MONDO_0017225 | http://purl.obolibrary.org/obo/MONDO_0010714 |
Pelizaeus-Merzbacher disease in female carriers | http://purl.obolibrary.org/obo/MONDO_0017224 | http://purl.obolibrary.org/obo/MONDO_0010714 |
Pelizaeus-Merzbacher disease, transitional form | http://purl.obolibrary.org/obo/MONDO_0017223 | http://purl.obolibrary.org/obo/MONDO_0010714 |
Pelizaeus-Merzbacher disease, classic form | http://purl.obolibrary.org/obo/MONDO_0017222 | http://purl.obolibrary.org/obo/MONDO_0010714 |
Autosomal recessive malignant osteopetrosis | http://www.orpha.net/ORDO/Orphanet_667 | http://purl.obolibrary.org/obo/MONDO_0018609 |
CAMOS syndrome | http://purl.obolibrary.org/obo/MONDO_0019374 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Short stature-optic atrophy-Pelger-Huët anomaly syndrome | http://www.orpha.net/ORDO/Orphanet_391677 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Fatty acid hydroxylase-associated neurodegeneration | http://www.orpha.net/ORDO/Orphanet_329308 | http://purl.obolibrary.org/obo/MONDO_0018609 |
optic atrophy 2 | http://purl.obolibrary.org/obo/MONDO_0010698 | http://purl.obolibrary.org/obo/MONDO_0018609 |
severe X-linked intellectual disability, Gustavson type | http://purl.obolibrary.org/obo/MONDO_0010661 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Bosch-Boonstra-Schaaf optic atrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0014320 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Autosomal recessive spastic paraplegia type 7 | http://www.orpha.net/ORDO/Orphanet_99013 | http://purl.obolibrary.org/obo/MONDO_0018609 |
X-linked Charcot-Marie-Tooth disease type 5 | http://www.orpha.net/ORDO/Orphanet_99014 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Severe X-linked intellectual disability, Gustavson type | http://www.orpha.net/ORDO/Orphanet_3078 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity | http://www.orpha.net/ORDO/Orphanet_352654 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Wolfram-like syndrome | http://www.ebi.ac.uk/efo/EFO_0009063 | http://purl.obolibrary.org/obo/MONDO_0018609 |
tremor-ataxia-central hypomyelination syndrome | http://purl.obolibrary.org/obo/MONDO_0018656 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Spastic paraplegia-optic atrophy-neuropathy syndrome | http://www.orpha.net/ORDO/Orphanet_320406 | http://purl.obolibrary.org/obo/MONDO_0018609 |
Autosomal recessive spastic paraplegia type 76 | http://www.ebi.ac.uk/efo/EFO_0009019 | http://www.orpha.net/ORDO/Orphanet_320406 |
Autosomal recessive spastic paraplegia type 75 | http://www.ebi.ac.uk/efo/EFO_0009018 | http://www.orpha.net/ORDO/Orphanet_320406 |
Autosomal recessive spastic paraplegia type 57 | http://www.ebi.ac.uk/efo/EFO_0009017 | http://www.orpha.net/ORDO/Orphanet_320406 |
Behr syndrome | http://purl.obolibrary.org/obo/MONDO_0008858 | http://purl.obolibrary.org/obo/MONDO_0018609 |
lens size anomaly | http://purl.obolibrary.org/obo/MONDO_0020235 | http://www.ebi.ac.uk/efo/EFO_0003966 |
pigment dispersion syndrome | http://purl.obolibrary.org/obo/MONDO_0010896 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Retrobulbar Hemorrhage | http://www.ebi.ac.uk/efo/EFO_1001414 | http://www.ebi.ac.uk/efo/EFO_0003966 |
isolated Pierre-Robin syndrome | http://purl.obolibrary.org/obo/MONDO_0009869 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Axenfeld anomaly | http://purl.obolibrary.org/obo/MONDO_0020368 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Takayasu arteritis | http://www.ebi.ac.uk/efo/EFO_1001857 | http://www.ebi.ac.uk/efo/EFO_0003966 |
orbital myositis | http://www.ebi.ac.uk/efo/EFO_1001819 | http://www.ebi.ac.uk/efo/EFO_0003966 |
eye adnexa disease | http://www.ebi.ac.uk/efo/EFO_0009546 | http://www.ebi.ac.uk/efo/EFO_0003966 |
disease of orbital part of eye adnexa | http://purl.obolibrary.org/obo/MONDO_0004751 | http://www.ebi.ac.uk/efo/EFO_0009546 |
acute orbital inflammation | http://purl.obolibrary.org/obo/MONDO_0001230 | http://purl.obolibrary.org/obo/MONDO_0004751 |
orbital cellulitis | http://www.ebi.ac.uk/efo/EFO_1001076 | http://purl.obolibrary.org/obo/MONDO_0001230 |
myopathy of extraocular muscle | http://purl.obolibrary.org/obo/MONDO_0004746 | http://www.ebi.ac.uk/efo/EFO_0009546 |
oculopharyngeal muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0008116 | http://purl.obolibrary.org/obo/MONDO_0004746 |
Conjunctival Disorder | http://www.ebi.ac.uk/efo/EFO_1000203 | http://www.ebi.ac.uk/efo/EFO_0009546 |
conjunctival vascular disorder | http://purl.obolibrary.org/obo/MONDO_0001174 | http://www.ebi.ac.uk/efo/EFO_1000203 |
conjunctival deposit | http://purl.obolibrary.org/obo/MONDO_0001331 | http://www.ebi.ac.uk/efo/EFO_1000203 |
conjunctival pigmentation | http://www.ebi.ac.uk/efo/EFO_1000682 | http://purl.obolibrary.org/obo/MONDO_0001331 |
pigmented conjunctival lesion | http://purl.obolibrary.org/obo/MONDO_0020203 | http://www.ebi.ac.uk/efo/EFO_1000203 |
alkaptonuria | http://purl.obolibrary.org/obo/MONDO_0008753 | http://purl.obolibrary.org/obo/MONDO_0020203 |
conjunctival degeneration | http://purl.obolibrary.org/obo/MONDO_0000949 | http://www.ebi.ac.uk/efo/EFO_1000203 |
pinguecula | http://www.ebi.ac.uk/efo/EFO_1001824 | http://purl.obolibrary.org/obo/MONDO_0000949 |
conjunctivitis | http://www.ebi.ac.uk/efo/EFO_0009450 | http://www.ebi.ac.uk/efo/EFO_1000203 |
viral conjunctivitis | http://www.ebi.ac.uk/efo/EFO_0008571 | http://www.ebi.ac.uk/efo/EFO_0009450 |
chronic conjunctivitis | http://purl.obolibrary.org/obo/MONDO_0002314 | http://www.ebi.ac.uk/efo/EFO_0009450 |
ligneous conjunctivitis | http://purl.obolibrary.org/obo/MONDO_0019946 | http://purl.obolibrary.org/obo/MONDO_0002314 |
allergic conjunctivitis | http://www.ebi.ac.uk/efo/EFO_0007141 | http://purl.obolibrary.org/obo/MONDO_0002314 |
keratoconjunctivitis | http://purl.obolibrary.org/obo/MONDO_0004768 | http://www.ebi.ac.uk/efo/EFO_0009450 |
dry eye syndrome | http://www.ebi.ac.uk/efo/EFO_1000906 | http://purl.obolibrary.org/obo/MONDO_0004768 |
bacterial conjunctivitis | http://www.ebi.ac.uk/efo/EFO_1000829 | http://www.ebi.ac.uk/efo/EFO_0009450 |
inclusion conjunctivitis | http://www.ebi.ac.uk/efo/EFO_0007324 | http://www.ebi.ac.uk/efo/EFO_1000829 |
eyelid disease | http://www.ebi.ac.uk/efo/EFO_0009547 | http://www.ebi.ac.uk/efo/EFO_0009546 |
hypertrichosis of eyelid | http://purl.obolibrary.org/obo/MONDO_0001334 | http://www.ebi.ac.uk/efo/EFO_0009547 |
lagophthalmos | http://purl.obolibrary.org/obo/MONDO_0001604 | http://www.ebi.ac.uk/efo/EFO_0009547 |
entropion | http://purl.obolibrary.org/obo/MONDO_0001519 | http://www.ebi.ac.uk/efo/EFO_0009547 |
congenital entropion | http://purl.obolibrary.org/obo/MONDO_0020159 | http://purl.obolibrary.org/obo/MONDO_0001519 |
secondary entropion | http://purl.obolibrary.org/obo/MONDO_0020160 | http://purl.obolibrary.org/obo/MONDO_0020159 |
tarsal kink syndrome | http://purl.obolibrary.org/obo/MONDO_0020462 | http://purl.obolibrary.org/obo/MONDO_0020159 |
canthal anomaly | http://purl.obolibrary.org/obo/MONDO_0020163 | http://www.ebi.ac.uk/efo/EFO_0009547 |
epicanthal fold | http://purl.obolibrary.org/obo/MONDO_0020164 | http://purl.obolibrary.org/obo/MONDO_0020163 |
syndromic epicanthus | http://purl.obolibrary.org/obo/MONDO_0020165 | http://purl.obolibrary.org/obo/MONDO_0020164 |
Marinesco-Sjogren syndrome | http://purl.obolibrary.org/obo/MONDO_0009567 | http://purl.obolibrary.org/obo/MONDO_0020165 |
malposition of external canthus | http://purl.obolibrary.org/obo/MONDO_0020167 | http://purl.obolibrary.org/obo/MONDO_0020163 |
telecanthus | http://purl.obolibrary.org/obo/MONDO_0008537 | http://purl.obolibrary.org/obo/MONDO_0020163 |
cryptophthalmia | http://purl.obolibrary.org/obo/MONDO_0020153 | http://www.ebi.ac.uk/efo/EFO_0009547 |
microblepharon-ablephara syndrome | http://purl.obolibrary.org/obo/MONDO_0020154 | http://www.ebi.ac.uk/efo/EFO_0009547 |
eyelid border anomaly | http://purl.obolibrary.org/obo/MONDO_0020155 | http://www.ebi.ac.uk/efo/EFO_0009547 |
syndromic ankyloblepharon | http://purl.obolibrary.org/obo/MONDO_0020156 | http://purl.obolibrary.org/obo/MONDO_0020155 |
syndromic palpebral coloboma | http://purl.obolibrary.org/obo/MONDO_0020157 | http://purl.obolibrary.org/obo/MONDO_0020155 |
eyelids malposition disorder | http://purl.obolibrary.org/obo/MONDO_0020158 | http://www.ebi.ac.uk/efo/EFO_0009547 |
myotonic dystrophy type 2 | http://purl.obolibrary.org/obo/MONDO_0011266 | http://purl.obolibrary.org/obo/MONDO_0020158 |
ptosis-strabismus-ectopic pupils syndrome | http://purl.obolibrary.org/obo/MONDO_0008341 | http://purl.obolibrary.org/obo/MONDO_0020158 |
ptosis, hereditary congenital, 1 | http://purl.obolibrary.org/obo/MONDO_0008340 | http://purl.obolibrary.org/obo/MONDO_0020158 |
oculopharyngodistal myopathy | http://purl.obolibrary.org/obo/MONDO_0025193 | http://purl.obolibrary.org/obo/MONDO_0020158 |
oculopharyngodistal myopathy 2 | http://purl.obolibrary.org/obo/MONDO_0030134 | http://purl.obolibrary.org/obo/MONDO_0025193 |
jaw-winking syndrome | http://purl.obolibrary.org/obo/MONDO_0007946 | http://purl.obolibrary.org/obo/MONDO_0020158 |
Marin-Amat syndrome | http://purl.obolibrary.org/obo/MONDO_0015101 | http://purl.obolibrary.org/obo/MONDO_0007946 |
inverse Marcus-Gunn phenomenon | http://purl.obolibrary.org/obo/MONDO_0020362 | http://purl.obolibrary.org/obo/MONDO_0007946 |
congenital ectropion | http://purl.obolibrary.org/obo/MONDO_0020161 | http://purl.obolibrary.org/obo/MONDO_0020158 |
isolated congenital ectropion | http://purl.obolibrary.org/obo/MONDO_0020463 | http://purl.obolibrary.org/obo/MONDO_0020161 |
euryblepharon | http://purl.obolibrary.org/obo/MONDO_0020464 | http://purl.obolibrary.org/obo/MONDO_0020161 |
secondary ectropion | http://purl.obolibrary.org/obo/MONDO_0020162 | http://purl.obolibrary.org/obo/MONDO_0020158 |
lamellar ichthyosis | http://purl.obolibrary.org/obo/MONDO_0017778 | http://purl.obolibrary.org/obo/MONDO_0020162 |
autosomal recessive congenital ichthyosis 4A | http://purl.obolibrary.org/obo/MONDO_0011026 | http://purl.obolibrary.org/obo/MONDO_0017778 |
autosomal recessive congenital ichthyosis 4B | http://purl.obolibrary.org/obo/MONDO_0009443 | http://purl.obolibrary.org/obo/MONDO_0011026 |
ichthyosis, lamellar, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0007812 | http://purl.obolibrary.org/obo/MONDO_0017778 |
Acrootoocular syndrome | http://purl.obolibrary.org/obo/MONDO_0009920 | http://purl.obolibrary.org/obo/MONDO_0020158 |
epiblepharon | http://purl.obolibrary.org/obo/MONDO_0020461 | http://purl.obolibrary.org/obo/MONDO_0020158 |
congenital Horner syndrome | http://purl.obolibrary.org/obo/MONDO_0007735 | http://purl.obolibrary.org/obo/MONDO_0020158 |
oculogastrointestinal muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0010181 | http://purl.obolibrary.org/obo/MONDO_0020158 |
dopamine beta-hydroxylase deficiency | http://purl.obolibrary.org/obo/MONDO_0009123 | http://purl.obolibrary.org/obo/MONDO_0020158 |
congenital myasthenic syndrome | http://purl.obolibrary.org/obo/MONDO_0018940 | http://purl.obolibrary.org/obo/MONDO_0020158 |
postsynaptic congenital myasthenic syndrome | http://purl.obolibrary.org/obo/MONDO_0020344 | http://purl.obolibrary.org/obo/MONDO_0018940 |
congenital myasthenic syndrome 8 | http://purl.obolibrary.org/obo/MONDO_0014052 | http://purl.obolibrary.org/obo/MONDO_0020344 |
presynaptic congenital myasthenic syndrome | http://purl.obolibrary.org/obo/MONDO_0020345 | http://purl.obolibrary.org/obo/MONDO_0018940 |
synaptic congenital myasthenic syndrome | http://purl.obolibrary.org/obo/MONDO_0020346 | http://purl.obolibrary.org/obo/MONDO_0018940 |
congenital myasthenic syndromes with glycosylation defect | http://purl.obolibrary.org/obo/MONDO_0018144 | http://purl.obolibrary.org/obo/MONDO_0018940 |
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome | http://purl.obolibrary.org/obo/MONDO_0016457 | http://purl.obolibrary.org/obo/MONDO_0020158 |
ptosis-vocal cord paralysis syndrome | http://purl.obolibrary.org/obo/MONDO_0008665 | http://purl.obolibrary.org/obo/MONDO_0020158 |
congenital eyelid retraction | http://purl.obolibrary.org/obo/MONDO_0020465 | http://www.ebi.ac.uk/efo/EFO_0009547 |
ectropion | http://purl.obolibrary.org/obo/MONDO_0002043 | http://www.ebi.ac.uk/efo/EFO_0009547 |
lacrimal apparatus disease | http://www.ebi.ac.uk/efo/EFO_0009455 | http://www.ebi.ac.uk/efo/EFO_0009547 |
anomaly of the secretory and excretory apparatus of the lacrimal system | http://purl.obolibrary.org/obo/MONDO_0020196 | http://www.ebi.ac.uk/efo/EFO_0009455 |
EEC syndrome and related syndrome | http://purl.obolibrary.org/obo/MONDO_0020197 | http://purl.obolibrary.org/obo/MONDO_0020196 |
Limb-mammary syndrome | http://www.orpha.net/ORDO/Orphanet_69085 | http://purl.obolibrary.org/obo/MONDO_0020197 |
Lacrimoauriculodentodigital syndrome | http://www.orpha.net/ORDO/Orphanet_2363 | http://purl.obolibrary.org/obo/MONDO_0020197 |
IgG4-related dacryoadenitis and sialadenitis | http://purl.obolibrary.org/obo/MONDO_0019191 | http://www.ebi.ac.uk/efo/EFO_0009455 |
secretory apparatus of the lacrimal system anomaly | http://purl.obolibrary.org/obo/MONDO_0020193 | http://www.ebi.ac.uk/efo/EFO_0009455 |
congenital alacrima | http://purl.obolibrary.org/obo/MONDO_0020194 | http://purl.obolibrary.org/obo/MONDO_0020193 |
isolated congenital alacrima | http://purl.obolibrary.org/obo/MONDO_0019627 | http://purl.obolibrary.org/obo/MONDO_0020194 |
syndromic X-linked intellectual disability 17 | http://purl.obolibrary.org/obo/MONDO_0010460 | http://purl.obolibrary.org/obo/MONDO_0020194 |
excretory apparatus of the lacrimal system anomaly | http://purl.obolibrary.org/obo/MONDO_0020195 | http://www.ebi.ac.uk/efo/EFO_0009455 |
syndromic orbital border hypoplasia | http://purl.obolibrary.org/obo/MONDO_0008138 | http://purl.obolibrary.org/obo/MONDO_0020195 |
aplasia of lacrimal and salivary glands | http://purl.obolibrary.org/obo/MONDO_0008397 | http://purl.obolibrary.org/obo/MONDO_0020195 |
disorder of lacrimal gland | http://purl.obolibrary.org/obo/MONDO_0024625 | http://www.ebi.ac.uk/efo/EFO_0009455 |
dacryoadenitis | http://purl.obolibrary.org/obo/MONDO_0004804 | http://purl.obolibrary.org/obo/MONDO_0024625 |
chronic dacryoadenitis | http://purl.obolibrary.org/obo/MONDO_0004800 | http://purl.obolibrary.org/obo/MONDO_0004804 |
blepharitis | http://www.ebi.ac.uk/efo/EFO_0009536 | http://www.ebi.ac.uk/efo/EFO_0009547 |
parasitic eyelid infestation | http://purl.obolibrary.org/obo/MONDO_0001812 | http://www.ebi.ac.uk/efo/EFO_0009536 |
filarial elephantiasis | http://www.ebi.ac.uk/efo/EFO_0007272 | http://purl.obolibrary.org/obo/MONDO_0001812 |
hordeolum | http://www.ebi.ac.uk/efo/EFO_0007315 | http://www.ebi.ac.uk/efo/EFO_0009536 |
internal hordeolum | http://purl.obolibrary.org/obo/MONDO_0004917 | http://www.ebi.ac.uk/efo/EFO_0007315 |
meibomian cyst | http://www.ebi.ac.uk/efo/EFO_0007363 | http://purl.obolibrary.org/obo/MONDO_0004917 |
hypopigmentation of eyelid | http://www.ebi.ac.uk/efo/EFO_1000713 | http://www.ebi.ac.uk/efo/EFO_0009547 |
corneal disease | http://www.ebi.ac.uk/efo/EFO_0009464 | http://www.ebi.ac.uk/efo/EFO_0003966 |
corneal deposit | http://purl.obolibrary.org/obo/MONDO_0001308 | http://www.ebi.ac.uk/efo/EFO_0009464 |
stromal corneal pigmentation | http://www.ebi.ac.uk/efo/EFO_1000770 | http://purl.obolibrary.org/obo/MONDO_0001308 |
corneal degeneration | http://purl.obolibrary.org/obo/MONDO_0001515 | http://www.ebi.ac.uk/efo/EFO_0009464 |
arcus senilis | http://www.ebi.ac.uk/efo/EFO_1000818 | http://purl.obolibrary.org/obo/MONDO_0001515 |
keratoconus | http://purl.obolibrary.org/obo/MONDO_0015486 | http://www.ebi.ac.uk/efo/EFO_0009464 |
syndromic keratoconus | http://purl.obolibrary.org/obo/MONDO_0020211 | http://purl.obolibrary.org/obo/MONDO_0015486 |
EDICT syndrome | http://purl.obolibrary.org/obo/MONDO_0013678 | http://purl.obolibrary.org/obo/MONDO_0020211 |
corneogoniodysgenesis | http://purl.obolibrary.org/obo/MONDO_0020219 | http://www.ebi.ac.uk/efo/EFO_0009464 |
sclerocornea | http://purl.obolibrary.org/obo/MONDO_0019629 | http://purl.obolibrary.org/obo/MONDO_0020219 |
isolated congenital megalocornea | http://purl.obolibrary.org/obo/MONDO_0010649 | http://purl.obolibrary.org/obo/MONDO_0020219 |
Corneal astigmatism | http://www.ebi.ac.uk/efo/EFO_1002040 | http://www.ebi.ac.uk/efo/EFO_0009464 |
cornea plana | http://purl.obolibrary.org/obo/MONDO_0000733 | http://www.ebi.ac.uk/efo/EFO_0009464 |
congenital cornea plana | http://purl.obolibrary.org/obo/MONDO_0018888 | http://purl.obolibrary.org/obo/MONDO_0000733 |
megalocornea | http://purl.obolibrary.org/obo/MONDO_0009576 | http://www.ebi.ac.uk/efo/EFO_0009464 |
corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0018102 | http://www.ebi.ac.uk/efo/EFO_0009464 |
syndromic corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0020215 | http://purl.obolibrary.org/obo/MONDO_0018102 |
Finnish type amyloidosis | http://purl.obolibrary.org/obo/MONDO_0007097 | http://purl.obolibrary.org/obo/MONDO_0020215 |
Stern-Lubinsky-Durrie syndrome | http://purl.obolibrary.org/obo/MONDO_0007383 | http://purl.obolibrary.org/obo/MONDO_0020215 |
hereditary benign intraepithelial dyskeratosis | http://purl.obolibrary.org/obo/MONDO_0007486 | http://purl.obolibrary.org/obo/MONDO_0020215 |
syndromic recessive X-linked ichthyosis | http://purl.obolibrary.org/obo/MONDO_0017264 | http://purl.obolibrary.org/obo/MONDO_0020215 |
subaortic stenosis-short stature syndrome | http://purl.obolibrary.org/obo/MONDO_0010082 | http://purl.obolibrary.org/obo/MONDO_0020215 |
dermochondrocorneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0009094 | http://purl.obolibrary.org/obo/MONDO_0020215 |
corneal-cerebellar syndrome | http://purl.obolibrary.org/obo/MONDO_0010063 | http://purl.obolibrary.org/obo/MONDO_0020215 |
spastic ataxia-corneal dystrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0010064 | http://purl.obolibrary.org/obo/MONDO_0020215 |
X-linked reticulate pigmentary disorder | http://purl.obolibrary.org/obo/MONDO_0010523 | http://purl.obolibrary.org/obo/MONDO_0020215 |
X-linked corneal dermoid | http://purl.obolibrary.org/obo/MONDO_0010579 | http://purl.obolibrary.org/obo/MONDO_0020215 |
iridocorneal endothelial syndrome | http://purl.obolibrary.org/obo/MONDO_0018988 | http://purl.obolibrary.org/obo/MONDO_0020215 |
Cogan-Reese syndrome | http://purl.obolibrary.org/obo/MONDO_0020370 | http://purl.obolibrary.org/obo/MONDO_0018988 |
essential iris atrophy | http://purl.obolibrary.org/obo/MONDO_0020371 | http://purl.obolibrary.org/obo/MONDO_0018988 |
Chandler syndrome | http://purl.obolibrary.org/obo/MONDO_0020369 | http://purl.obolibrary.org/obo/MONDO_0018988 |
superficial corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0020212 | http://purl.obolibrary.org/obo/MONDO_0018102 |
Thiel-Behnke corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0011185 | http://purl.obolibrary.org/obo/MONDO_0020212 |
subepithelial mucinous corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0013026 | http://purl.obolibrary.org/obo/MONDO_0020212 |
Grayson-Wilbrandt corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0017391 | http://purl.obolibrary.org/obo/MONDO_0020212 |
honey-droplet corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0020363 | http://purl.obolibrary.org/obo/MONDO_0020212 |
epithelial recurrent erosion dystrophy | http://purl.obolibrary.org/obo/MONDO_0007381 | http://purl.obolibrary.org/obo/MONDO_0020212 |
epithelial basement membrane dystrophy | http://purl.obolibrary.org/obo/MONDO_0007375 | http://purl.obolibrary.org/obo/MONDO_0020212 |
Meesmann corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0007379 | http://purl.obolibrary.org/obo/MONDO_0020212 |
corneal dystrophy, Meesmann, 2 | http://purl.obolibrary.org/obo/MONDO_0032904 | http://purl.obolibrary.org/obo/MONDO_0007379 |
Lisch epithelial corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0010425 | http://purl.obolibrary.org/obo/MONDO_0020212 |
Reis-Bucklers corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0012043 | http://purl.obolibrary.org/obo/MONDO_0020212 |
gelatinous drop-like corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0008777 | http://purl.obolibrary.org/obo/MONDO_0020212 |
stromal corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0020213 | http://purl.obolibrary.org/obo/MONDO_0018102 |
granular corneal dystrophy type II | http://purl.obolibrary.org/obo/MONDO_0011855 | http://purl.obolibrary.org/obo/MONDO_0020213 |
posterior amorphous corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0013027 | http://purl.obolibrary.org/obo/MONDO_0020213 |
pre-descemet corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0017392 | http://purl.obolibrary.org/obo/MONDO_0020213 |
Schnyder corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0007374 | http://purl.obolibrary.org/obo/MONDO_0020213 |
fleck corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0007376 | http://purl.obolibrary.org/obo/MONDO_0020213 |
granular corneal dystrophy type I | http://purl.obolibrary.org/obo/MONDO_0007377 | http://purl.obolibrary.org/obo/MONDO_0020213 |
congenital stromal corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0012401 | http://purl.obolibrary.org/obo/MONDO_0020213 |
central cloudy dystrophy of François | http://purl.obolibrary.org/obo/MONDO_0009018 | http://purl.obolibrary.org/obo/MONDO_0020213 |
lattice corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0004686 | http://purl.obolibrary.org/obo/MONDO_0020213 |
lattice corneal dystrophy type I | http://purl.obolibrary.org/obo/MONDO_0007380 | http://purl.obolibrary.org/obo/MONDO_0004686 |
posterior corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0020214 | http://purl.obolibrary.org/obo/MONDO_0018102 |
Fuchs' endothelial dystrophy | http://purl.obolibrary.org/obo/MONDO_0005321 | http://purl.obolibrary.org/obo/MONDO_0020214 |
posterior polymorphous corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0020364 | http://purl.obolibrary.org/obo/MONDO_0020214 |
congenital hereditary endothelial dystrophy type I | http://purl.obolibrary.org/obo/MONDO_0020365 | http://purl.obolibrary.org/obo/MONDO_0020214 |
congenital hereditary endothelial dystrophy of cornea | http://purl.obolibrary.org/obo/MONDO_0009019 | http://purl.obolibrary.org/obo/MONDO_0020214 |
X-linked endothelial corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0010426 | http://purl.obolibrary.org/obo/MONDO_0020214 |
autosomal dominant keratitis | http://purl.obolibrary.org/obo/MONDO_0007848 | http://purl.obolibrary.org/obo/MONDO_0018102 |
epithelial and subepithelial corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0000763 | http://purl.obolibrary.org/obo/MONDO_0018102 |
epithelial-stromal TGFBI dystrophy | http://purl.obolibrary.org/obo/MONDO_0000764 | http://purl.obolibrary.org/obo/MONDO_0018102 |
corneal endothelial dystrophy | http://purl.obolibrary.org/obo/MONDO_0000766 | http://purl.obolibrary.org/obo/MONDO_0018102 |
keratitis | http://www.ebi.ac.uk/efo/EFO_0009449 | http://www.ebi.ac.uk/efo/EFO_0009464 |
corneal neovascularization | http://www.ebi.ac.uk/efo/EFO_1000880 | http://www.ebi.ac.uk/efo/EFO_0009449 |
corneal edema | http://www.ebi.ac.uk/efo/EFO_1000879 | http://www.ebi.ac.uk/efo/EFO_0009464 |
idiopathic corneal edema | http://purl.obolibrary.org/obo/MONDO_0001182 | http://www.ebi.ac.uk/efo/EFO_1000879 |
diabetic eye disease | http://www.ebi.ac.uk/efo/EFO_0009486 | http://www.ebi.ac.uk/efo/EFO_0003966 |
diabetes mellitus type 2 associated cataract | http://www.ebi.ac.uk/efo/EFO_0004596 | http://www.ebi.ac.uk/efo/EFO_0009486 |
diabetic retinopathy | http://www.ebi.ac.uk/efo/EFO_0003770 | http://www.ebi.ac.uk/efo/EFO_0009486 |
diabetic maculopathy | http://www.ebi.ac.uk/efo/EFO_0010133 | http://www.ebi.ac.uk/efo/EFO_0003770 |
diabetic macular edema | http://www.ebi.ac.uk/efo/EFO_0009321 | http://www.ebi.ac.uk/efo/EFO_0010133 |
non-proliferative diabetic retinopathy | http://www.ebi.ac.uk/efo/EFO_0009760 | http://www.ebi.ac.uk/efo/EFO_0003770 |
proliferative diabetic retinopathy | http://www.ebi.ac.uk/efo/EFO_0009322 | http://www.ebi.ac.uk/efo/EFO_0003770 |
Gaucher disease | http://purl.obolibrary.org/obo/MONDO_0018150 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Gaucher disease - ophthalmoplegia - cardiovascular calcification | http://www.orpha.net/ORDO/Orphanet_2072 | http://purl.obolibrary.org/obo/MONDO_0018150 |
Gaucher disease perinatal lethal | http://purl.obolibrary.org/obo/MONDO_0011945 | http://purl.obolibrary.org/obo/MONDO_0018150 |
atypical Gaucher disease due to saposin C deficiency | http://purl.obolibrary.org/obo/MONDO_0012517 | http://purl.obolibrary.org/obo/MONDO_0018150 |
Gaucher disease type I | http://purl.obolibrary.org/obo/MONDO_0009265 | http://purl.obolibrary.org/obo/MONDO_0018150 |
Gaucher disease type II | http://purl.obolibrary.org/obo/MONDO_0009266 | http://purl.obolibrary.org/obo/MONDO_0018150 |
Gaucher disease type III | http://purl.obolibrary.org/obo/MONDO_0009267 | http://purl.obolibrary.org/obo/MONDO_0018150 |
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | http://purl.obolibrary.org/obo/MONDO_0009268 | http://purl.obolibrary.org/obo/MONDO_0018150 |
Atypical Gaucher disease due to saposin C deficiency | http://www.orpha.net/ORDO/Orphanet_309252 | http://purl.obolibrary.org/obo/MONDO_0018150 |
Gaucher disease type 3 | http://www.orpha.net/ORDO/Orphanet_77261 | http://purl.obolibrary.org/obo/MONDO_0018150 |
Gaucher disease type 2 | http://www.orpha.net/ORDO/Orphanet_77260 | http://purl.obolibrary.org/obo/MONDO_0018150 |
Gaucher disease type 1 | http://www.orpha.net/ORDO/Orphanet_77259 | http://purl.obolibrary.org/obo/MONDO_0018150 |
ocular sarcoidosis | http://www.ebi.ac.uk/efo/EFO_0010723 | http://www.ebi.ac.uk/efo/EFO_0003966 |
lens disease | http://www.ebi.ac.uk/efo/EFO_0009674 | http://www.ebi.ac.uk/efo/EFO_0003966 |
lens position anomaly | http://purl.obolibrary.org/obo/MONDO_0020236 | http://www.ebi.ac.uk/efo/EFO_0009674 |
facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome | http://purl.obolibrary.org/obo/MONDO_0011106 | http://purl.obolibrary.org/obo/MONDO_0020236 |
isolated ectopia lentis | http://purl.obolibrary.org/obo/MONDO_0015998 | http://purl.obolibrary.org/obo/MONDO_0020236 |
blepharoptosis-myopia-ectopia lentis syndrome | http://purl.obolibrary.org/obo/MONDO_0007202 | http://purl.obolibrary.org/obo/MONDO_0020236 |
cataract | http://purl.obolibrary.org/obo/MONDO_0005129 | http://www.ebi.ac.uk/efo/EFO_0009674 |
nuclear cataract | http://purl.obolibrary.org/obo/MONDO_0045050 | http://purl.obolibrary.org/obo/MONDO_0005129 |
nuclear senile cataract | http://purl.obolibrary.org/obo/MONDO_0001847 | http://purl.obolibrary.org/obo/MONDO_0045050 |
syndromic cataract | http://purl.obolibrary.org/obo/MONDO_0020225 | http://purl.obolibrary.org/obo/MONDO_0005129 |
congenital cataract-hearing loss-severe developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0013772 | http://purl.obolibrary.org/obo/MONDO_0020225 |
intellectual disability-cataracts-kyphosis syndrome | http://purl.obolibrary.org/obo/MONDO_0015752 | http://purl.obolibrary.org/obo/MONDO_0020225 |
cataract - microcornea syndrome | http://purl.obolibrary.org/obo/MONDO_0015300 | http://purl.obolibrary.org/obo/MONDO_0020225 |
Nathalie syndrome | http://purl.obolibrary.org/obo/MONDO_0009721 | http://purl.obolibrary.org/obo/MONDO_0020225 |
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | http://purl.obolibrary.org/obo/MONDO_0044306 | http://purl.obolibrary.org/obo/MONDO_0020225 |
hereditary hyperferritinemia with congenital cataracts | http://purl.obolibrary.org/obo/MONDO_0010952 | http://purl.obolibrary.org/obo/MONDO_0020225 |
hypomyelinating leukodystrophy 5 | http://purl.obolibrary.org/obo/MONDO_0012514 | http://purl.obolibrary.org/obo/MONDO_0020225 |
hypergonadotropic hypogonadism-cataract syndrome | http://purl.obolibrary.org/obo/MONDO_0009417 | http://purl.obolibrary.org/obo/MONDO_0020225 |
autosomal dominant cataract | http://purl.obolibrary.org/obo/MONDO_0022672 | http://purl.obolibrary.org/obo/MONDO_0020225 |
juvenile cataract-microcornea-renal glucosuria syndrome | http://purl.obolibrary.org/obo/MONDO_0012786 | http://purl.obolibrary.org/obo/MONDO_0022672 |
galactosemia | http://purl.obolibrary.org/obo/MONDO_0018116 | http://purl.obolibrary.org/obo/MONDO_0020225 |
galactosemia 4 | http://purl.obolibrary.org/obo/MONDO_0030105 | http://purl.obolibrary.org/obo/MONDO_0018116 |
galactokinase deficiency | http://purl.obolibrary.org/obo/MONDO_0009255 | http://purl.obolibrary.org/obo/MONDO_0018116 |
galactose epimerase deficiency | http://purl.obolibrary.org/obo/MONDO_0009257 | http://purl.obolibrary.org/obo/MONDO_0018116 |
generalized galactose epimerase deficiency | http://purl.obolibrary.org/obo/MONDO_0017692 | http://purl.obolibrary.org/obo/MONDO_0009257 |
erythrocyte galactose epimerase deficiency | http://purl.obolibrary.org/obo/MONDO_0017691 | http://purl.obolibrary.org/obo/MONDO_0009257 |
cataract-hypertrichosis-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0008894 | http://purl.obolibrary.org/obo/MONDO_0020225 |
congenital cataract-ichthyosis syndrome | http://purl.obolibrary.org/obo/MONDO_0008924 | http://purl.obolibrary.org/obo/MONDO_0020225 |
cataract 12 multiple types | http://purl.obolibrary.org/obo/MONDO_0012701 | http://purl.obolibrary.org/obo/MONDO_0005129 |
senile cataract | http://purl.obolibrary.org/obo/MONDO_0004847 | http://purl.obolibrary.org/obo/MONDO_0005129 |
optic neuritis | http://www.ebi.ac.uk/efo/EFO_0007405 | http://www.ebi.ac.uk/efo/EFO_0003966 |
optic papillitis | http://www.ebi.ac.uk/efo/EFO_1001074 | http://www.ebi.ac.uk/efo/EFO_0007405 |
Sturge-Weber syndrome | http://purl.obolibrary.org/obo/MONDO_0008501 | http://www.ebi.ac.uk/efo/EFO_0003966 |
microcornea-corectopia-macular hypoplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0016762 | http://www.ebi.ac.uk/efo/EFO_0003966 |
LCAT deficiency | http://purl.obolibrary.org/obo/MONDO_0018999 | http://www.ebi.ac.uk/efo/EFO_0003966 |
fish eye disease | http://purl.obolibrary.org/obo/MONDO_0007620 | http://purl.obolibrary.org/obo/MONDO_0018999 |
Norum disease | http://purl.obolibrary.org/obo/MONDO_0009515 | http://purl.obolibrary.org/obo/MONDO_0018999 |
Fish-eye disease | http://www.orpha.net/ORDO/Orphanet_79292 | http://purl.obolibrary.org/obo/MONDO_0018999 |
Familial LCAT deficiency | http://www.orpha.net/ORDO/Orphanet_79293 | http://purl.obolibrary.org/obo/MONDO_0018999 |
glaucoma | http://www.ebi.ac.uk/efo/EFO_0000516 | http://www.ebi.ac.uk/efo/EFO_0003966 |
open-angle glaucoma | http://www.ebi.ac.uk/efo/EFO_0004190 | http://www.ebi.ac.uk/efo/EFO_0000516 |
low tension glaucoma | http://www.ebi.ac.uk/efo/EFO_1001022 | http://www.ebi.ac.uk/efo/EFO_0004190 |
juvenile open angle glaucoma | http://purl.obolibrary.org/obo/MONDO_0020367 | http://www.ebi.ac.uk/efo/EFO_0004190 |
glaucoma 1, open angle, A | http://purl.obolibrary.org/obo/MONDO_0007664 | http://purl.obolibrary.org/obo/MONDO_0020367 |
neovascular glaucoma | http://www.ebi.ac.uk/efo/EFO_1001060 | http://www.ebi.ac.uk/efo/EFO_0000516 |
phacogenic glaucoma | http://purl.obolibrary.org/obo/MONDO_0001554 | http://www.ebi.ac.uk/efo/EFO_0000516 |
exfoliation syndrome | http://www.ebi.ac.uk/efo/EFO_0004235 | http://purl.obolibrary.org/obo/MONDO_0001554 |
angle-closure glaucoma | http://purl.obolibrary.org/obo/MONDO_0001744 | http://www.ebi.ac.uk/efo/EFO_0000516 |
primary angle closure glaucoma | http://www.ebi.ac.uk/efo/EFO_1001506 | http://purl.obolibrary.org/obo/MONDO_0001744 |
pigmentary glaucoma | http://www.ebi.ac.uk/efo/EFO_0021425 | http://www.ebi.ac.uk/efo/EFO_0000516 |
hereditary glaucoma | http://purl.obolibrary.org/obo/MONDO_0018174 | http://www.ebi.ac.uk/efo/EFO_0000516 |
primary hereditary glaucoma | http://purl.obolibrary.org/obo/MONDO_0015485 | http://purl.obolibrary.org/obo/MONDO_0018174 |
congenital glaucoma | http://purl.obolibrary.org/obo/MONDO_0020366 | http://purl.obolibrary.org/obo/MONDO_0015485 |
primary congenital glaucoma | http://purl.obolibrary.org/obo/MONDO_0000365 | http://purl.obolibrary.org/obo/MONDO_0020366 |
secondary dysgenetic glaucoma | http://purl.obolibrary.org/obo/MONDO_0020216 | http://purl.obolibrary.org/obo/MONDO_0018174 |
glaucoma secondary to spherophakia/ectopia lentis and megalocornea | http://purl.obolibrary.org/obo/MONDO_0016559 | http://purl.obolibrary.org/obo/MONDO_0018174 |
IRVAN syndrome | http://purl.obolibrary.org/obo/MONDO_0016205 | http://www.ebi.ac.uk/efo/EFO_0003966 |
eye infectious disorder | http://purl.obolibrary.org/obo/MONDO_0043885 | http://www.ebi.ac.uk/efo/EFO_0003966 |
ocular tuberculosis | http://www.ebi.ac.uk/efo/EFO_1001070 | http://purl.obolibrary.org/obo/MONDO_0043885 |
viral eye infection | http://purl.obolibrary.org/obo/MONDO_0020950 | http://purl.obolibrary.org/obo/MONDO_0043885 |
parasitic eye infection | http://purl.obolibrary.org/obo/MONDO_0020947 | http://purl.obolibrary.org/obo/MONDO_0043885 |
ocular toxoplasmosis | http://www.ebi.ac.uk/efo/EFO_0007399 | http://purl.obolibrary.org/obo/MONDO_0020947 |
ocular onchocerciasis | http://www.ebi.ac.uk/efo/EFO_0007398 | http://purl.obolibrary.org/obo/MONDO_0020947 |
Accommodative esotropia | http://purl.obolibrary.org/obo/HP_0020046 | http://www.ebi.ac.uk/efo/EFO_0003966 |
IgG4-related ophthalmic disorder | http://purl.obolibrary.org/obo/MONDO_0018675 | http://www.ebi.ac.uk/efo/EFO_0003966 |
eye allergy | http://www.ebi.ac.uk/efo/EFO_0005751 | http://www.ebi.ac.uk/efo/EFO_0003966 |
ocular vascular disease | http://www.ebi.ac.uk/efo/EFO_0005753 | http://www.ebi.ac.uk/efo/EFO_0003966 |
optic choroid disorder | http://purl.obolibrary.org/obo/MONDO_0001898 | http://www.ebi.ac.uk/efo/EFO_0005753 |
choroiditis | http://purl.obolibrary.org/obo/MONDO_0001280 | http://purl.obolibrary.org/obo/MONDO_0001898 |
non-infectious posterior uveitis | http://purl.obolibrary.org/obo/MONDO_0019541 | http://purl.obolibrary.org/obo/MONDO_0001280 |
birdshot chorioretinopathy | http://purl.obolibrary.org/obo/MONDO_0011599 | http://purl.obolibrary.org/obo/MONDO_0019541 |
paraneoplastic uveitis | http://purl.obolibrary.org/obo/MONDO_0017212 | http://purl.obolibrary.org/obo/MONDO_0019541 |
choroidal sclerosis | http://purl.obolibrary.org/obo/MONDO_0004885 | http://purl.obolibrary.org/obo/MONDO_0001898 |
central areolar choroidal dystrophy | http://purl.obolibrary.org/obo/MONDO_0008982 | http://purl.obolibrary.org/obo/MONDO_0001898 |
retinal vascular disorder | http://purl.obolibrary.org/obo/MONDO_0002311 | http://www.ebi.ac.uk/efo/EFO_0005753 |
retinal vasculitis | http://www.ebi.ac.uk/efo/EFO_1001156 | http://purl.obolibrary.org/obo/MONDO_0002311 |
retinal telangiectasia | http://purl.obolibrary.org/obo/MONDO_0004348 | http://purl.obolibrary.org/obo/MONDO_0002311 |
retinal vascular occlusion | http://purl.obolibrary.org/obo/MONDO_0002089 | http://purl.obolibrary.org/obo/MONDO_0002311 |
retinal artery occlusion | http://www.ebi.ac.uk/efo/EFO_1001154 | http://purl.obolibrary.org/obo/MONDO_0002089 |
retinal vein occlusion | http://www.ebi.ac.uk/efo/EFO_1001157 | http://purl.obolibrary.org/obo/MONDO_0002089 |
uveal disorder | http://purl.obolibrary.org/obo/MONDO_0002661 | http://www.ebi.ac.uk/efo/EFO_0003966 |
uveitis | http://www.ebi.ac.uk/efo/EFO_1001231 | http://purl.obolibrary.org/obo/MONDO_0002661 |
panuveitis | http://www.ebi.ac.uk/efo/EFO_1001082 | http://www.ebi.ac.uk/efo/EFO_1001231 |
posterior uveitis | http://www.ebi.ac.uk/efo/EFO_1001119 | http://www.ebi.ac.uk/efo/EFO_1001082 |
retinitis | http://purl.obolibrary.org/obo/MONDO_0002708 | http://www.ebi.ac.uk/efo/EFO_1001119 |
acute retinal necrosis syndrome | http://www.ebi.ac.uk/efo/EFO_1000795 | http://purl.obolibrary.org/obo/MONDO_0002708 |
sympathetic ophthalmia | http://www.ebi.ac.uk/efo/EFO_1001205 | http://www.ebi.ac.uk/efo/EFO_1001082 |
idiopathic panuveitis | http://purl.obolibrary.org/obo/MONDO_0017258 | http://www.ebi.ac.uk/efo/EFO_1001082 |
Vogt-Koyanagi-Harada disease | http://purl.obolibrary.org/obo/MONDO_0018092 | http://www.ebi.ac.uk/efo/EFO_1001082 |
suppurative uveitis | http://www.ebi.ac.uk/efo/EFO_1001203 | http://www.ebi.ac.uk/efo/EFO_1001231 |
Birdshot chorioretinopathy | http://www.orpha.net/ORDO/Orphanet_179 | http://www.ebi.ac.uk/efo/EFO_1001231 |
chorioretinitis | http://purl.obolibrary.org/obo/MONDO_0004674 | http://www.ebi.ac.uk/efo/EFO_1001231 |
pars planitis | http://www.ebi.ac.uk/efo/EFO_1001088 | http://purl.obolibrary.org/obo/MONDO_0004674 |
microcephaly and chorioretinopathy | http://purl.obolibrary.org/obo/MONDO_0000181 | http://purl.obolibrary.org/obo/MONDO_0004674 |
disseminated chorioretinitis | http://purl.obolibrary.org/obo/MONDO_0004657 | http://purl.obolibrary.org/obo/MONDO_0004674 |
iritis | http://www.ebi.ac.uk/efo/EFO_1000997 | http://www.ebi.ac.uk/efo/EFO_1001231 |
intermediate uveitis | http://www.ebi.ac.uk/efo/EFO_1000986 | http://www.ebi.ac.uk/efo/EFO_1001231 |
anterior uveitis | http://www.ebi.ac.uk/efo/EFO_1000811 | http://www.ebi.ac.uk/efo/EFO_1001231 |
non-infectious anterior uveitis | http://purl.obolibrary.org/obo/MONDO_0017634 | http://www.ebi.ac.uk/efo/EFO_1000811 |
idiopathic anterior uveitis | http://purl.obolibrary.org/obo/MONDO_0017256 | http://www.ebi.ac.uk/efo/EFO_1000811 |
iris disorder | http://purl.obolibrary.org/obo/MONDO_0002289 | http://purl.obolibrary.org/obo/MONDO_0002661 |
ciliary body disorder | http://purl.obolibrary.org/obo/MONDO_0002970 | http://purl.obolibrary.org/obo/MONDO_0002289 |
fatty acyl-CoA reductase 1 deficiency | http://purl.obolibrary.org/obo/MONDO_0014510 | http://www.ebi.ac.uk/efo/EFO_0003966 |
retinopathy | http://www.ebi.ac.uk/efo/EFO_0003839 | http://www.ebi.ac.uk/efo/EFO_0003966 |
retinopathy of prematurity | http://www.ebi.ac.uk/efo/EFO_1001158 | http://www.ebi.ac.uk/efo/EFO_0003839 |
macular holes | http://www.ebi.ac.uk/efo/EFO_1001028 | http://www.ebi.ac.uk/efo/EFO_0003839 |
melanoma associated retinopathy | http://purl.obolibrary.org/obo/MONDO_0023868 | http://www.ebi.ac.uk/efo/EFO_0003839 |
cancer-associated retinopathy | http://purl.obolibrary.org/obo/MONDO_0019112 | http://www.ebi.ac.uk/efo/EFO_0003839 |
Retinoblastoma | http://www.orpha.net/ORDO/Orphanet_790 | http://www.ebi.ac.uk/efo/EFO_0003839 |
Unilateral retinoblastoma | http://www.orpha.net/ORDO/Orphanet_357034 | http://www.orpha.net/ORDO/Orphanet_790 |
Familial retinoblastoma | http://www.orpha.net/ORDO/Orphanet_357027 | http://www.orpha.net/ORDO/Orphanet_790 |
macular telangiectasia type 2 | http://www.ebi.ac.uk/efo/EFO_1002009 | http://www.ebi.ac.uk/efo/EFO_0003839 |
retinal ciliopathy | http://purl.obolibrary.org/obo/MONDO_0022410 | http://www.ebi.ac.uk/efo/EFO_0003839 |
Aland island eye disease | http://purl.obolibrary.org/obo/MONDO_0010371 | http://www.ebi.ac.uk/efo/EFO_0003839 |
retinal detachment | http://www.ebi.ac.uk/efo/EFO_0005773 | http://www.ebi.ac.uk/efo/EFO_0003839 |
retinal perforation | http://purl.obolibrary.org/obo/MONDO_0001539 | http://www.ebi.ac.uk/efo/EFO_0005773 |
rhegmatogenous retinal detachment | http://www.ebi.ac.uk/efo/EFO_0005240 | http://www.ebi.ac.uk/efo/EFO_0005773 |
autosomal dominant rhegmatogenous retinal detachment | http://purl.obolibrary.org/obo/MONDO_0016202 | http://www.ebi.ac.uk/efo/EFO_0005240 |
retinal edema | http://purl.obolibrary.org/obo/MONDO_0004037 | http://www.ebi.ac.uk/efo/EFO_0003839 |
macular retinal edema | http://purl.obolibrary.org/obo/MONDO_0003005 | http://purl.obolibrary.org/obo/MONDO_0004037 |
cystoid macular edema | http://purl.obolibrary.org/obo/MONDO_0007935 | http://purl.obolibrary.org/obo/MONDO_0003005 |
retinal degeneration | http://purl.obolibrary.org/obo/MONDO_0004580 | http://www.ebi.ac.uk/efo/EFO_0003839 |
retinoschisis | http://purl.obolibrary.org/obo/MONDO_0004579 | http://purl.obolibrary.org/obo/MONDO_0004580 |
macular degeneration | http://www.ebi.ac.uk/efo/EFO_0009606 | http://purl.obolibrary.org/obo/MONDO_0004580 |
degeneration of macula and posterior pole | http://purl.obolibrary.org/obo/MONDO_0002175 | http://www.ebi.ac.uk/efo/EFO_0009606 |
retinal drusen | http://www.ebi.ac.uk/efo/EFO_1001155 | http://purl.obolibrary.org/obo/MONDO_0002175 |
night blindness | http://purl.obolibrary.org/obo/MONDO_0004588 | http://www.ebi.ac.uk/efo/EFO_0003839 |
acquired night blindness | http://purl.obolibrary.org/obo/MONDO_0001296 | http://purl.obolibrary.org/obo/MONDO_0004588 |
hereditary night blindness | http://purl.obolibrary.org/obo/MONDO_0004587 | http://purl.obolibrary.org/obo/MONDO_0004588 |
congenital stationary night blindness | http://purl.obolibrary.org/obo/MONDO_0016293 | http://purl.obolibrary.org/obo/MONDO_0004587 |
retinal break | http://www.ebi.ac.uk/efo/EFO_0010698 | http://www.ebi.ac.uk/efo/EFO_0003839 |
central serous retinopathy | http://www.ebi.ac.uk/efo/EFO_0009784 | http://www.ebi.ac.uk/efo/EFO_0003839 |
chronic central serous retinopathy | http://www.ebi.ac.uk/efo/EFO_0009363 | http://www.ebi.ac.uk/efo/EFO_0009784 |
hypertensive retinopathy | http://www.ebi.ac.uk/efo/EFO_1000977 | http://www.ebi.ac.uk/efo/EFO_0003839 |
angioid streaks | http://www.ebi.ac.uk/efo/EFO_1000805 | http://www.ebi.ac.uk/efo/EFO_0003839 |
eye degenerative disorder | http://purl.obolibrary.org/obo/MONDO_0004884 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Sjogren-Larsson syndrome | http://purl.obolibrary.org/obo/MONDO_0010031 | http://purl.obolibrary.org/obo/MONDO_0004884 |
Sandhoff disease | http://purl.obolibrary.org/obo/MONDO_0010006 | http://purl.obolibrary.org/obo/MONDO_0004884 |
Sandhoff disease, adult form | http://purl.obolibrary.org/obo/MONDO_0017723 | http://purl.obolibrary.org/obo/MONDO_0010006 |
Sandhoff disease, juvenile form | http://purl.obolibrary.org/obo/MONDO_0017722 | http://purl.obolibrary.org/obo/MONDO_0010006 |
Sandhoff disease, infantile form | http://purl.obolibrary.org/obo/MONDO_0017721 | http://purl.obolibrary.org/obo/MONDO_0010006 |
Tay-Sachs disease | http://purl.obolibrary.org/obo/MONDO_0010100 | http://purl.obolibrary.org/obo/MONDO_0004884 |
Tay-Sachs disease, b variant, infantile form | http://purl.obolibrary.org/obo/MONDO_0017724 | http://purl.obolibrary.org/obo/MONDO_0010100 |
Tay-Sachs disease, B1 variant | http://purl.obolibrary.org/obo/MONDO_0017728 | http://purl.obolibrary.org/obo/MONDO_0010100 |
Tay-Sachs disease, b variant, adult form | http://purl.obolibrary.org/obo/MONDO_0017726 | http://purl.obolibrary.org/obo/MONDO_0010100 |
Tay-Sachs disease, b variant, juvenile form | http://purl.obolibrary.org/obo/MONDO_0017725 | http://purl.obolibrary.org/obo/MONDO_0010100 |
Tay-Sachs disease, B variant, juvenile form | http://www.orpha.net/ORDO/Orphanet_309185 | http://purl.obolibrary.org/obo/MONDO_0010100 |
Tay-Sachs disease, B variant, infantile form | http://www.orpha.net/ORDO/Orphanet_309178 | http://purl.obolibrary.org/obo/MONDO_0010100 |
Tay-Sachs disease, B variant, adult form | http://www.orpha.net/ORDO/Orphanet_309192 | http://purl.obolibrary.org/obo/MONDO_0010100 |
Krabbe disease | http://purl.obolibrary.org/obo/MONDO_0009499 | http://purl.obolibrary.org/obo/MONDO_0004884 |
Late-infantile/juvenile Krabbe disease | http://www.orpha.net/ORDO/Orphanet_206443 | http://purl.obolibrary.org/obo/MONDO_0009499 |
Adult Krabbe disease | http://www.orpha.net/ORDO/Orphanet_206448 | http://purl.obolibrary.org/obo/MONDO_0009499 |
Infantile Krabbe disease | http://www.orpha.net/ORDO/Orphanet_206436 | http://purl.obolibrary.org/obo/MONDO_0009499 |
adult Krabbe disease | http://purl.obolibrary.org/obo/MONDO_0016091 | http://purl.obolibrary.org/obo/MONDO_0009499 |
late-infantile/juvenile Krabbe disease | http://purl.obolibrary.org/obo/MONDO_0016090 | http://purl.obolibrary.org/obo/MONDO_0009499 |
infantile Krabbe disease | http://purl.obolibrary.org/obo/MONDO_0016089 | http://purl.obolibrary.org/obo/MONDO_0009499 |
Chediak-Higashi syndrome | http://purl.obolibrary.org/obo/MONDO_0008963 | http://purl.obolibrary.org/obo/MONDO_0004884 |
cerebrotendinous xanthomatosis | http://purl.obolibrary.org/obo/MONDO_0008948 | http://purl.obolibrary.org/obo/MONDO_0004884 |
refractive error | http://purl.obolibrary.org/obo/MONDO_0004892 | http://www.ebi.ac.uk/efo/EFO_0003966 |
Aniseikonia | http://www.ebi.ac.uk/efo/EFO_1001266 | http://purl.obolibrary.org/obo/MONDO_0004892 |
myopia 26, X-linked, female-limited | http://purl.obolibrary.org/obo/MONDO_0049221 | http://purl.obolibrary.org/obo/MONDO_0004892 |
presbyopia | http://purl.obolibrary.org/obo/MONDO_0001330 | http://purl.obolibrary.org/obo/MONDO_0004892 |
myopia 27 | http://purl.obolibrary.org/obo/MONDO_0032941 | http://purl.obolibrary.org/obo/MONDO_0004892 |
syndromic myopia | http://purl.obolibrary.org/obo/MONDO_0020208 | http://purl.obolibrary.org/obo/MONDO_0004892 |
aplasia cutis-myopia syndrome | http://purl.obolibrary.org/obo/MONDO_0010988 | http://purl.obolibrary.org/obo/MONDO_0020208 |
X-linked cone dysfunction syndrome with myopia | http://purl.obolibrary.org/obo/MONDO_0010446 | http://purl.obolibrary.org/obo/MONDO_0020208 |
achromatopsia | http://purl.obolibrary.org/obo/MONDO_0018852 | http://purl.obolibrary.org/obo/MONDO_0020208 |
hyperopia | http://purl.obolibrary.org/obo/MONDO_0004891 | http://purl.obolibrary.org/obo/MONDO_0004892 |
syndromic hyperopia | http://purl.obolibrary.org/obo/MONDO_0020210 | http://purl.obolibrary.org/obo/MONDO_0004891 |
oculocerebrorenal syndrome | http://purl.obolibrary.org/obo/MONDO_0010645 | http://www.ebi.ac.uk/efo/EFO_0003966 |
megalocornea-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0009577 | http://www.ebi.ac.uk/efo/EFO_0003966 |
eye accommodation disease | http://purl.obolibrary.org/obo/MONDO_0000926 | http://www.ebi.ac.uk/efo/EFO_0003966 |
cycloplegia | http://www.ebi.ac.uk/efo/EFO_0005758 | http://purl.obolibrary.org/obo/MONDO_0000926 |
Ito hypomelanosis | http://purl.obolibrary.org/obo/MONDO_0010302 | http://www.ebi.ac.uk/efo/EFO_0003966 |
ectodermal dysplasia-blindness syndrome | http://purl.obolibrary.org/obo/MONDO_0010001 | http://www.ebi.ac.uk/efo/EFO_0003966 |
occular toxicity | http://www.ebi.ac.uk/efo/EFO_0020928 | http://www.ebi.ac.uk/efo/EFO_0003966 |
oculomucocutaneous syndrome | http://www.ebi.ac.uk/efo/EFO_0020917 | http://www.ebi.ac.uk/efo/EFO_0003966 |
subacute myelo-opticoneuropathy | http://www.ebi.ac.uk/efo/EFO_0020919 | http://www.ebi.ac.uk/efo/EFO_0003966 |
ocular cystinosis | http://purl.obolibrary.org/obo/MONDO_0009064 | http://www.ebi.ac.uk/efo/EFO_0003966 |
ptosis | http://purl.obolibrary.org/obo/MONDO_0000728 | http://www.ebi.ac.uk/efo/EFO_0003966 |
microphthalmia | http://www.ebi.ac.uk/efo/EFO_0005569 | http://www.ebi.ac.uk/efo/EFO_0003966 |
isolated microphthalmia | http://purl.obolibrary.org/obo/MONDO_0000062 | http://www.ebi.ac.uk/efo/EFO_0005569 |
isolated microphthalmia 5 | http://purl.obolibrary.org/obo/MONDO_0012605 | http://purl.obolibrary.org/obo/MONDO_0000062 |
microphthalmia, isolated, with cataract | http://purl.obolibrary.org/obo/MONDO_0000169 | http://purl.obolibrary.org/obo/MONDO_0000062 |
ocular motility disease | http://www.ebi.ac.uk/efo/EFO_1001990 | http://www.ebi.ac.uk/efo/EFO_0003966 |
congenital fibrosis of the extraocular muscles | http://www.ebi.ac.uk/efo/EFO_1001985 | http://www.ebi.ac.uk/efo/EFO_1001990 |
hypotropia | http://purl.obolibrary.org/obo/MONDO_0004897 | http://www.ebi.ac.uk/efo/EFO_1001990 |
pathologic nystagmus | http://purl.obolibrary.org/obo/MONDO_0004843 | http://www.ebi.ac.uk/efo/EFO_1001990 |
congenital nystagmus | http://www.ebi.ac.uk/efo/EFO_0007217 | http://purl.obolibrary.org/obo/MONDO_0004843 |
nystagmus 6, congenital, X-linked | http://purl.obolibrary.org/obo/MONDO_0010435 | http://www.ebi.ac.uk/efo/EFO_0007217 |
paralytic strabismus | http://www.ebi.ac.uk/efo/EFO_0009678 | http://www.ebi.ac.uk/efo/EFO_1001990 |
binocular vision disease | http://www.ebi.ac.uk/efo/EFO_0009535 | http://www.ebi.ac.uk/efo/EFO_1001990 |
glaucoma-sleep apnea syndrome | http://purl.obolibrary.org/obo/MONDO_0007666 | http://www.ebi.ac.uk/efo/EFO_0003966 |
eye infection | http://www.ebi.ac.uk/efo/EFO_1001888 | http://www.ebi.ac.uk/efo/EFO_0003966 |
autoimmune/inflammatory optic neuropathy | http://purl.obolibrary.org/obo/MONDO_0044685 | http://www.ebi.ac.uk/efo/EFO_0003966 |
oculocutaneous or ocular albinism | http://purl.obolibrary.org/obo/MONDO_0020275 | http://www.ebi.ac.uk/efo/EFO_0003966 |
syndromic oculocutaneous albinism | http://purl.obolibrary.org/obo/MONDO_0017305 | http://purl.obolibrary.org/obo/MONDO_0020275 |
Hermansky-Pudlak syndrome | http://purl.obolibrary.org/obo/MONDO_0019312 | http://purl.obolibrary.org/obo/MONDO_0017305 |
Hermansky-Pudlak syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0011997 | http://purl.obolibrary.org/obo/MONDO_0019312 |
Hermansky-Pudlak syndrome type 9 | http://www.orpha.net/ORDO/Orphanet_280663 | http://purl.obolibrary.org/obo/MONDO_0019312 |
Hermansky-Pudlak syndrome type 7 | http://www.orpha.net/ORDO/Orphanet_231531 | http://purl.obolibrary.org/obo/MONDO_0019312 |
Hermansky-Pudlak syndrome type 8 | http://www.orpha.net/ORDO/Orphanet_231537 | http://purl.obolibrary.org/obo/MONDO_0019312 |
Hermansky-Pudlak syndrome 8 | http://purl.obolibrary.org/obo/MONDO_0013560 | http://purl.obolibrary.org/obo/MONDO_0019312 |
Hermansky-Pudlak syndrome 7 | http://purl.obolibrary.org/obo/MONDO_0013559 | http://purl.obolibrary.org/obo/MONDO_0019312 |
Hermansky-Pudlak syndrome 9 | http://purl.obolibrary.org/obo/MONDO_0013606 | http://purl.obolibrary.org/obo/MONDO_0019312 |
Hermansky-Pudlak syndrome 10 | http://purl.obolibrary.org/obo/MONDO_0014885 | http://purl.obolibrary.org/obo/MONDO_0019312 |
Hermansky-Pudlak syndrome without pulmonary fibrosis | http://purl.obolibrary.org/obo/MONDO_0016502 | http://purl.obolibrary.org/obo/MONDO_0019312 |
Hermansky-Pudlak syndrome 3 | http://purl.obolibrary.org/obo/MONDO_0013555 | http://purl.obolibrary.org/obo/MONDO_0016502 |
Hermansky-Pudlak syndrome with pulmonary fibrosis | http://purl.obolibrary.org/obo/MONDO_0016501 | http://purl.obolibrary.org/obo/MONDO_0019312 |
Griscelli syndrome | http://purl.obolibrary.org/obo/MONDO_0018306 | http://purl.obolibrary.org/obo/MONDO_0017305 |
Griscelli syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0011872 | http://purl.obolibrary.org/obo/MONDO_0018306 |
Griscelli syndrome type 3 | http://purl.obolibrary.org/obo/MONDO_0012220 | http://purl.obolibrary.org/obo/MONDO_0018306 |
Griscelli syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0008962 | http://purl.obolibrary.org/obo/MONDO_0018306 |
ocular albinism | http://purl.obolibrary.org/obo/MONDO_0017304 | http://purl.obolibrary.org/obo/MONDO_0020275 |
X-linked recessive ocular albinism | http://purl.obolibrary.org/obo/MONDO_0021019 | http://purl.obolibrary.org/obo/MONDO_0017304 |
autosomal recessive ocular albinism | http://purl.obolibrary.org/obo/MONDO_0040653 | http://purl.obolibrary.org/obo/MONDO_0017304 |
oculocutaneous albinism type 1A | http://purl.obolibrary.org/obo/MONDO_0008745 | http://purl.obolibrary.org/obo/MONDO_0040653 |
oculocutaneous albinism type 1B | http://purl.obolibrary.org/obo/MONDO_0011749 | http://purl.obolibrary.org/obo/MONDO_0008745 |
oculocutaneous albinism | http://purl.obolibrary.org/obo/MONDO_0018910 | http://purl.obolibrary.org/obo/MONDO_0020275 |
oculocutaneous albinism type 4 | http://purl.obolibrary.org/obo/MONDO_0011683 | http://purl.obolibrary.org/obo/MONDO_0018910 |
oculocutaneous albinism type 7 | http://purl.obolibrary.org/obo/MONDO_0014070 | http://purl.obolibrary.org/obo/MONDO_0018910 |
oculocutaneous albinism type 5 | http://purl.obolibrary.org/obo/MONDO_0014127 | http://purl.obolibrary.org/obo/MONDO_0018910 |
oculocutaneous albinism type 1 | http://purl.obolibrary.org/obo/MONDO_0018135 | http://purl.obolibrary.org/obo/MONDO_0018910 |
temperature-sensitive oculocutaneous albinism type 1 | http://purl.obolibrary.org/obo/MONDO_0018137 | http://purl.obolibrary.org/obo/MONDO_0018135 |
minimal pigment oculocutaneous albinism type 1 | http://purl.obolibrary.org/obo/MONDO_0018136 | http://purl.obolibrary.org/obo/MONDO_0018135 |
oculocutaneous albinism type 2 | http://purl.obolibrary.org/obo/MONDO_0008746 | http://purl.obolibrary.org/obo/MONDO_0018910 |
oculocutaneous albinism type 3 | http://purl.obolibrary.org/obo/MONDO_0008747 | http://purl.obolibrary.org/obo/MONDO_0018910 |
oculocutaneous albinism type 6 | http://purl.obolibrary.org/obo/MONDO_0018264 | http://purl.obolibrary.org/obo/MONDO_0018910 |
ocular posterior capsular rupture | http://www.ebi.ac.uk/efo/EFO_1001817 | http://www.ebi.ac.uk/efo/EFO_0003966 |
scalp disorder | http://purl.obolibrary.org/obo/MONDO_0044999 | http://purl.obolibrary.org/obo/MONDO_0005042 |
psoriasis | http://www.ebi.ac.uk/efo/EFO_0000676 | http://purl.obolibrary.org/obo/MONDO_0044999 |
guttate psoriasis | http://purl.obolibrary.org/obo/MONDO_0023297 | http://www.ebi.ac.uk/efo/EFO_0000676 |
psoriasis 14, pustular | http://purl.obolibrary.org/obo/MONDO_0013626 | http://www.ebi.ac.uk/efo/EFO_0000676 |
psoriasis vulgaris | http://www.ebi.ac.uk/efo/EFO_1001494 | http://www.ebi.ac.uk/efo/EFO_0000676 |
parapsoriasis | http://www.ebi.ac.uk/efo/EFO_1000747 | http://www.ebi.ac.uk/efo/EFO_0000676 |
seborrheic infantile dermatitis | http://www.ebi.ac.uk/efo/EFO_1000765 | http://purl.obolibrary.org/obo/MONDO_0044999 |
facial nerve disease | http://www.ebi.ac.uk/efo/EFO_1002051 | http://purl.obolibrary.org/obo/MONDO_0005042 |
facial neuralgia | http://www.ebi.ac.uk/efo/EFO_0009380 | http://www.ebi.ac.uk/efo/EFO_1002051 |
skull disorder | http://purl.obolibrary.org/obo/MONDO_0024654 | http://purl.obolibrary.org/obo/MONDO_0005042 |
chemotherapy-induced alopecia | http://www.ebi.ac.uk/efo/EFO_0005400 | http://purl.obolibrary.org/obo/MONDO_0005042 |
temporomandibular joint disorder | http://www.ebi.ac.uk/efo/EFO_0005279 | http://purl.obolibrary.org/obo/MONDO_0005042 |
olfactory nerve disorder | http://purl.obolibrary.org/obo/MONDO_0002727 | http://purl.obolibrary.org/obo/MONDO_0005042 |
cervicofacial actinomycosis | http://www.ebi.ac.uk/efo/EFO_0007203 | http://purl.obolibrary.org/obo/MONDO_0005042 |
trigeminal nerve disease | http://www.ebi.ac.uk/efo/EFO_0009569 | http://purl.obolibrary.org/obo/MONDO_0005042 |
trigeminal neuralgia | http://www.ebi.ac.uk/efo/EFO_1001219 | http://www.ebi.ac.uk/efo/EFO_0009569 |
trigeminal autonomic cephalalgia | http://purl.obolibrary.org/obo/MONDO_0015530 | http://www.ebi.ac.uk/efo/EFO_0009569 |
Paroxysmal Hemicrania | http://www.ebi.ac.uk/efo/EFO_1001822 | http://purl.obolibrary.org/obo/MONDO_0015530 |
ophthalmic herpes zoster | http://www.ebi.ac.uk/efo/EFO_0007403 | http://www.ebi.ac.uk/efo/EFO_0009569 |
connective tissue disease | http://www.ebi.ac.uk/efo/EFO_1001986 | http://www.ebi.ac.uk/efo/EFO_0000408 |
hereditary disorder of connective tissue | http://purl.obolibrary.org/obo/MONDO_0023603 | http://www.ebi.ac.uk/efo/EFO_1001986 |
autosomal systemic lupus erythematosus type 16 | http://purl.obolibrary.org/obo/MONDO_0013743 | http://purl.obolibrary.org/obo/MONDO_0023603 |
autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | http://purl.obolibrary.org/obo/MONDO_0013944 | http://purl.obolibrary.org/obo/MONDO_0023603 |
pyogenic arthritis-pyoderma gangrenosum-acne syndrome | http://purl.obolibrary.org/obo/MONDO_0011462 | http://purl.obolibrary.org/obo/MONDO_0023603 |
MASS syndrome | http://purl.obolibrary.org/obo/MONDO_0011431 | http://purl.obolibrary.org/obo/MONDO_0023603 |
sterile multifocal osteomyelitis with periostitis and pustulosis | http://purl.obolibrary.org/obo/MONDO_0013021 | http://purl.obolibrary.org/obo/MONDO_0023603 |
Marfan and Marfan-related disorder | http://purl.obolibrary.org/obo/MONDO_0017310 | http://purl.obolibrary.org/obo/MONDO_0023603 |
Aneurysm - osteoarthritis syndrome | http://www.orpha.net/ORDO/Orphanet_284984 | http://purl.obolibrary.org/obo/MONDO_0017310 |
Neonatal Marfan syndrome | http://www.orpha.net/ORDO/Orphanet_284979 | http://purl.obolibrary.org/obo/MONDO_0017310 |
Marfan syndrome | http://purl.obolibrary.org/obo/MONDO_0007947 | http://purl.obolibrary.org/obo/MONDO_0017310 |
Marfan syndrome type 2 | http://www.orpha.net/ORDO/Orphanet_284973 | http://purl.obolibrary.org/obo/MONDO_0007947 |
neonatal Marfan syndrome | http://purl.obolibrary.org/obo/MONDO_0017309 | http://purl.obolibrary.org/obo/MONDO_0007947 |
Familial thoracic aortic aneurysm and aortic dissection | http://www.orpha.net/ORDO/Orphanet_91387 | http://purl.obolibrary.org/obo/MONDO_0017310 |
Congenital contractural arachnodactyly | http://www.orpha.net/ORDO/Orphanet_115 | http://purl.obolibrary.org/obo/MONDO_0017310 |
Loeys-Dietz syndrome | http://purl.obolibrary.org/obo/MONDO_0018954 | http://purl.obolibrary.org/obo/MONDO_0017310 |
aneurysm-osteoarthritis syndrome | http://purl.obolibrary.org/obo/MONDO_0013426 | http://purl.obolibrary.org/obo/MONDO_0018954 |
Rienhoff syndrome | http://www.ebi.ac.uk/efo/EFO_1000012 | http://purl.obolibrary.org/obo/MONDO_0018954 |
marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections | http://www.ebi.ac.uk/efo/EFO_0009299 | http://purl.obolibrary.org/obo/MONDO_0017310 |
neonatal inflammatory skin and bowel disease | http://purl.obolibrary.org/obo/MONDO_0017411 | http://purl.obolibrary.org/obo/MONDO_0023603 |
autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis | http://purl.obolibrary.org/obo/MONDO_0017992 | http://purl.obolibrary.org/obo/MONDO_0023603 |
hereditary periodic fever syndrome | http://purl.obolibrary.org/obo/MONDO_0017953 | http://purl.obolibrary.org/obo/MONDO_0023603 |
autosomal dominant familial periodic fever | http://purl.obolibrary.org/obo/MONDO_0007727 | http://purl.obolibrary.org/obo/MONDO_0017953 |
periodic fever-infantile enterocolitis-autoinflammatory syndrome | http://purl.obolibrary.org/obo/MONDO_0014472 | http://purl.obolibrary.org/obo/MONDO_0017953 |
cryopyrin-associated periodic syndrome | http://purl.obolibrary.org/obo/MONDO_0016168 | http://purl.obolibrary.org/obo/MONDO_0017953 |
CINCA syndrome | http://purl.obolibrary.org/obo/MONDO_0011776 | http://purl.obolibrary.org/obo/MONDO_0016168 |
CINCA syndrome without NLRP3 mutations | http://www.orpha.net/ORDO/Orphanet_93367 | http://purl.obolibrary.org/obo/MONDO_0011776 |
CINCA syndrome with NLRP3 mutations | http://www.orpha.net/ORDO/Orphanet_93365 | http://purl.obolibrary.org/obo/MONDO_0011776 |
familial cold autoinflammatory syndrome | http://purl.obolibrary.org/obo/MONDO_0018768 | http://purl.obolibrary.org/obo/MONDO_0016168 |
familial cold autoinflammatory syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0007349 | http://purl.obolibrary.org/obo/MONDO_0018768 |
familial cold autoinflammatory syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0012724 | http://purl.obolibrary.org/obo/MONDO_0018768 |
familial cold autoinflammatory syndrome 4 | http://purl.obolibrary.org/obo/MONDO_0014498 | http://purl.obolibrary.org/obo/MONDO_0018768 |
Muckle-Wells syndrome | http://purl.obolibrary.org/obo/MONDO_0008633 | http://purl.obolibrary.org/obo/MONDO_0016168 |
familial Mediterranean fever | http://purl.obolibrary.org/obo/MONDO_0018088 | http://purl.obolibrary.org/obo/MONDO_0017953 |
proteosome-associated autoinflammatory syndrome | http://purl.obolibrary.org/obo/MONDO_0009726 | http://purl.obolibrary.org/obo/MONDO_0023603 |
proteasome-associated autoinflammatory syndrome 3 | http://purl.obolibrary.org/obo/MONDO_0054699 | http://purl.obolibrary.org/obo/MONDO_0009726 |
proteasome-associated autoinflammatory syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0054700 | http://purl.obolibrary.org/obo/MONDO_0009726 |
Blau syndrome | http://purl.obolibrary.org/obo/MONDO_0008523 | http://purl.obolibrary.org/obo/MONDO_0023603 |
Singleton-Merten dysplasia | http://purl.obolibrary.org/obo/MONDO_0008429 | http://purl.obolibrary.org/obo/MONDO_0023603 |
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | http://purl.obolibrary.org/obo/MONDO_0016542 | http://purl.obolibrary.org/obo/MONDO_0023603 |
inflammatory bowel disease 25 | http://purl.obolibrary.org/obo/MONDO_0012941 | http://purl.obolibrary.org/obo/MONDO_0016542 |
familial chilblain lupus | http://purl.obolibrary.org/obo/MONDO_0018827 | http://purl.obolibrary.org/obo/MONDO_0023603 |
Aicardi-Goutieres syndrome | http://purl.obolibrary.org/obo/MONDO_0018866 | http://purl.obolibrary.org/obo/MONDO_0023603 |
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | http://www.ebi.ac.uk/efo/EFO_0009028 | http://purl.obolibrary.org/obo/MONDO_0023603 |
Majeed syndrome | http://purl.obolibrary.org/obo/MONDO_0012316 | http://purl.obolibrary.org/obo/MONDO_0023603 |
ossification of the posterior longitudinal ligament of the spine | http://www.ebi.ac.uk/efo/EFO_0005895 | http://purl.obolibrary.org/obo/MONDO_0023603 |
progeroid and marfanoid aspect-lipodystrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0014831 | http://purl.obolibrary.org/obo/MONDO_0023603 |
STING-associated vasculopathy with onset in infancy | http://purl.obolibrary.org/obo/MONDO_0014405 | http://purl.obolibrary.org/obo/MONDO_0023603 |
vasculitis due to ADA2 deficiency | http://purl.obolibrary.org/obo/MONDO_0014306 | http://purl.obolibrary.org/obo/MONDO_0023603 |
arthrogryposis | http://www.ebi.ac.uk/efo/EFO_0003857 | http://purl.obolibrary.org/obo/MONDO_0023603 |
chondrocalcinosis 2 | http://purl.obolibrary.org/obo/MONDO_0007319 | http://purl.obolibrary.org/obo/MONDO_0023603 |
Tendinopathy | http://www.ebi.ac.uk/efo/EFO_1001434 | http://www.ebi.ac.uk/efo/EFO_1001986 |
epicondylitis | http://www.ebi.ac.uk/efo/EFO_1001887 | http://www.ebi.ac.uk/efo/EFO_1001434 |
lateral epicondylitis | http://www.ebi.ac.uk/efo/EFO_1001896 | http://www.ebi.ac.uk/efo/EFO_1001887 |
tendon sheath disorder | http://purl.obolibrary.org/obo/MONDO_0024876 | http://www.ebi.ac.uk/efo/EFO_1001434 |
tenosynovitis | http://www.ebi.ac.uk/efo/EFO_1001435 | http://purl.obolibrary.org/obo/MONDO_0024876 |
stenosing tenosynovitis | http://www.ebi.ac.uk/efo/EFO_0010822 | http://www.ebi.ac.uk/efo/EFO_1001435 |
tendinitis | http://purl.obolibrary.org/obo/MONDO_0004857 | http://www.ebi.ac.uk/efo/EFO_1001434 |
calcific tendinitis | http://purl.obolibrary.org/obo/MONDO_0001903 | http://purl.obolibrary.org/obo/MONDO_0004857 |
interstitial cystitis | http://www.ebi.ac.uk/efo/EFO_0008507 | http://www.ebi.ac.uk/efo/EFO_1001986 |
ligament rupture | http://www.ebi.ac.uk/efo/EFO_1002012 | http://www.ebi.ac.uk/efo/EFO_1001986 |
fasciitis | http://purl.obolibrary.org/obo/MONDO_0004830 | http://www.ebi.ac.uk/efo/EFO_1001986 |
rheumatic disease | http://www.ebi.ac.uk/efo/EFO_0005755 | http://www.ebi.ac.uk/efo/EFO_1001986 |
rheumatic fever | http://www.ebi.ac.uk/efo/EFO_1001160 | http://www.ebi.ac.uk/efo/EFO_0005755 |
sweet syndrome | http://purl.obolibrary.org/obo/MONDO_0011959 | http://www.ebi.ac.uk/efo/EFO_0005755 |
palindromic rheumatism | http://purl.obolibrary.org/obo/MONDO_0001332 | http://www.ebi.ac.uk/efo/EFO_0005755 |
progeria-associated arthropathy | http://purl.obolibrary.org/obo/MONDO_0020477 | http://www.ebi.ac.uk/efo/EFO_0005755 |
idiopathic juvenile osteoporosis | http://purl.obolibrary.org/obo/MONDO_0019409 | http://www.ebi.ac.uk/efo/EFO_0005755 |
polymyalgia rheumatica | http://www.ebi.ac.uk/efo/EFO_0008518 | http://www.ebi.ac.uk/efo/EFO_0005755 |
autoinflammatory syndrome | http://purl.obolibrary.org/obo/MONDO_0019751 | http://www.ebi.ac.uk/efo/EFO_0005755 |
Schnitzler syndrome | http://www.ebi.ac.uk/efo/EFO_1001165 | http://purl.obolibrary.org/obo/MONDO_0019751 |
periodic fever syndrome | http://purl.obolibrary.org/obo/MONDO_0015137 | http://purl.obolibrary.org/obo/MONDO_0019751 |
granulomatous autoinflammatory syndrome | http://purl.obolibrary.org/obo/MONDO_0017955 | http://purl.obolibrary.org/obo/MONDO_0019751 |
sarcoidosis | http://purl.obolibrary.org/obo/MONDO_0019338 | http://purl.obolibrary.org/obo/MONDO_0017955 |
uveoparotid fever | http://www.ebi.ac.uk/efo/EFO_1001232 | http://purl.obolibrary.org/obo/MONDO_0019338 |
pulmonary sarcoidosis | http://purl.obolibrary.org/obo/DOID_13406 | http://purl.obolibrary.org/obo/MONDO_0019338 |
skin sarcoidosis | http://www.ebi.ac.uk/efo/EFO_1000767 | http://purl.obolibrary.org/obo/MONDO_0019338 |
Erdheim-Chester disease | http://www.ebi.ac.uk/efo/EFO_1000926 | http://purl.obolibrary.org/obo/MONDO_0017955 |
pyogenic autoinflammatory syndrome | http://purl.obolibrary.org/obo/MONDO_0017954 | http://purl.obolibrary.org/obo/MONDO_0019751 |
SAPHO syndrome | http://www.ebi.ac.uk/efo/EFO_1001164 | http://purl.obolibrary.org/obo/MONDO_0017954 |
systemic juvenile idiopathic arthritis | http://www.ebi.ac.uk/efo/EFO_1001999 | http://purl.obolibrary.org/obo/MONDO_0019751 |
type 1 interferonopathy | http://purl.obolibrary.org/obo/MONDO_0018782 | http://purl.obolibrary.org/obo/MONDO_0019751 |
adult-onset Still's disease | http://www.ebi.ac.uk/efo/EFO_0007135 | http://purl.obolibrary.org/obo/MONDO_0019751 |
PFAPA syndrome | http://purl.obolibrary.org/obo/MONDO_0018540 | http://purl.obolibrary.org/obo/MONDO_0019751 |
Wissler's syndrome | http://www.ebi.ac.uk/efo/EFO_0007547 | http://www.ebi.ac.uk/efo/EFO_0005755 |
arthritis | http://www.ebi.ac.uk/efo/EFO_0005856 | http://www.ebi.ac.uk/efo/EFO_0005755 |
gout | http://www.ebi.ac.uk/efo/EFO_0004274 | http://www.ebi.ac.uk/efo/EFO_0005856 |
periarthritis | http://www.ebi.ac.uk/efo/EFO_1001097 | http://www.ebi.ac.uk/efo/EFO_0005856 |
synovitis | http://www.ebi.ac.uk/efo/EFO_0008997 | http://www.ebi.ac.uk/efo/EFO_0005856 |
pigmented villonodular synovitis | http://www.ebi.ac.uk/efo/EFO_1001106 | http://www.ebi.ac.uk/efo/EFO_0008997 |
acute synovitis | http://www.ebi.ac.uk/efo/EFO_0008998 | http://www.ebi.ac.uk/efo/EFO_0008997 |
chondrocalcinosis | http://purl.obolibrary.org/obo/MONDO_0001314 | http://www.ebi.ac.uk/efo/EFO_0005856 |
infective arthritis | http://purl.obolibrary.org/obo/MONDO_0042485 | http://www.ebi.ac.uk/efo/EFO_0005856 |
infectious arthritis | http://www.ebi.ac.uk/efo/EFO_1001351 | http://purl.obolibrary.org/obo/MONDO_0042485 |
discitis | http://www.ebi.ac.uk/efo/EFO_1000900 | http://purl.obolibrary.org/obo/MONDO_0042485 |
osteoarthritis | http://purl.obolibrary.org/obo/MONDO_0005178 | http://www.ebi.ac.uk/efo/EFO_0005856 |
osteoarthritis, knee | http://www.ebi.ac.uk/efo/EFO_0004616 | http://purl.obolibrary.org/obo/MONDO_0005178 |
osteoarthritis, hand | http://www.ebi.ac.uk/efo/EFO_1000789 | http://purl.obolibrary.org/obo/MONDO_0005178 |
osteoarthritis, toe | http://www.ebi.ac.uk/efo/EFO_1000788 | http://purl.obolibrary.org/obo/MONDO_0005178 |
osteoarthritis, spine | http://www.ebi.ac.uk/efo/EFO_1000787 | http://purl.obolibrary.org/obo/MONDO_0005178 |
osteoarthritis, hip | http://www.ebi.ac.uk/efo/EFO_1000786 | http://purl.obolibrary.org/obo/MONDO_0005178 |
polyarticular arthritis | http://purl.obolibrary.org/obo/MONDO_0024280 | http://www.ebi.ac.uk/efo/EFO_0005856 |
rheumatoid arthritis | http://www.ebi.ac.uk/efo/EFO_0000685 | http://www.ebi.ac.uk/efo/EFO_0005856 |
psoriatic arthritis | http://www.ebi.ac.uk/efo/EFO_0003778 | http://www.ebi.ac.uk/efo/EFO_0000685 |
psoriasis-related juvenile idiopathic arthritis | http://www.ebi.ac.uk/efo/EFO_0009733 | http://www.ebi.ac.uk/efo/EFO_0003778 |
ankylosing spondylitis | http://www.ebi.ac.uk/efo/EFO_0003898 | http://www.ebi.ac.uk/efo/EFO_0000685 |
Felty's syndrome | http://www.ebi.ac.uk/efo/EFO_0007269 | http://www.ebi.ac.uk/efo/EFO_0000685 |
ACPA-positive rheumatoid arthritis | http://www.ebi.ac.uk/efo/EFO_0009459 | http://www.ebi.ac.uk/efo/EFO_0000685 |
ACPA-negative rheumatoid arthritis | http://www.ebi.ac.uk/efo/EFO_0009460 | http://www.ebi.ac.uk/efo/EFO_0000685 |
juvenile idiopathic arthritis | http://www.ebi.ac.uk/efo/EFO_0002609 | http://www.ebi.ac.uk/efo/EFO_0005856 |
oligoarticular juvenile idiopathic arthritis | http://www.ebi.ac.uk/efo/EFO_1002019 | http://www.ebi.ac.uk/efo/EFO_0002609 |
extended oligoarticular juvenile idiopathic arthritis | http://www.ebi.ac.uk/efo/EFO_0009746 | http://www.ebi.ac.uk/efo/EFO_1002019 |
persistent oligoarticular juvenile idiopathic arthritis | http://www.ebi.ac.uk/efo/EFO_0009745 | http://www.ebi.ac.uk/efo/EFO_1002019 |
polyarticular juvenile idiopathic arthritis | http://www.ebi.ac.uk/efo/EFO_0009730 | http://www.ebi.ac.uk/efo/EFO_0002609 |
polyarticular juvenile idiopathic arthritis, rheumatoid factor negative | http://www.ebi.ac.uk/efo/EFO_1002020 | http://www.ebi.ac.uk/efo/EFO_0009730 |
polyarticular juvenile idiopathic arthritis, rheumatoid factor positive | http://www.ebi.ac.uk/efo/EFO_0009731 | http://www.ebi.ac.uk/efo/EFO_0009730 |
unspecified juvenile idiopathic arthritis | http://www.ebi.ac.uk/efo/EFO_0009734 | http://www.ebi.ac.uk/efo/EFO_0002609 |
enthesitis-related juvenile idiopathic arthritis | http://www.ebi.ac.uk/efo/EFO_0009732 | http://www.ebi.ac.uk/efo/EFO_0002609 |
reactive arthritis | http://www.ebi.ac.uk/efo/EFO_0007460 | http://www.ebi.ac.uk/efo/EFO_0005856 |
spondyloarthropathy | http://www.ebi.ac.uk/efo/EFO_0000706 | http://www.ebi.ac.uk/efo/EFO_0005755 |
dermatomyositis | http://www.ebi.ac.uk/efo/EFO_0000398 | http://www.ebi.ac.uk/efo/EFO_0005755 |
clinically amyopathic dermatomyositis | http://www.ebi.ac.uk/efo/EFO_0008532 | http://www.ebi.ac.uk/efo/EFO_0000398 |
juvenile dermatomyositis | http://www.ebi.ac.uk/efo/EFO_0000557 | http://www.ebi.ac.uk/efo/EFO_0000398 |
lupus erythematosus | http://purl.obolibrary.org/obo/MONDO_0004670 | http://www.ebi.ac.uk/efo/EFO_0005755 |
cutaneous lupus erythematosus | http://www.ebi.ac.uk/efo/EFO_0003834 | http://purl.obolibrary.org/obo/MONDO_0004670 |
chronic cutaneous lupus erythematosus | http://purl.obolibrary.org/obo/MONDO_0015574 | http://www.ebi.ac.uk/efo/EFO_0003834 |
chilblain lupus | http://purl.obolibrary.org/obo/MONDO_0019557 | http://purl.obolibrary.org/obo/MONDO_0015574 |
discoid lupus erythematosus | http://purl.obolibrary.org/obo/MONDO_0019558 | http://purl.obolibrary.org/obo/MONDO_0015574 |
drug-induced lupus erythematosus | http://purl.obolibrary.org/obo/MONDO_0016474 | http://purl.obolibrary.org/obo/MONDO_0004670 |
systemic lupus erythematosus | http://www.ebi.ac.uk/efo/EFO_0002690 | http://purl.obolibrary.org/obo/MONDO_0004670 |
neonatal systemic lupus erythematosus | http://www.ebi.ac.uk/efo/EFO_0004537 | http://www.ebi.ac.uk/efo/EFO_0002690 |
mixed connective tissue disease | http://www.ebi.ac.uk/efo/EFO_0007374 | http://www.ebi.ac.uk/efo/EFO_0005755 |
Reye syndrome | http://www.ebi.ac.uk/efo/EFO_0007467 | http://www.ebi.ac.uk/efo/EFO_0005755 |
intermittent hydrarthrosis | http://purl.obolibrary.org/obo/MONDO_0018015 | http://www.ebi.ac.uk/efo/EFO_0005755 |
overlapping connective tissue disease | http://purl.obolibrary.org/obo/MONDO_0016663 | http://www.ebi.ac.uk/efo/EFO_1001986 |
collagenopathy | http://purl.obolibrary.org/obo/MONDO_0004603 | http://www.ebi.ac.uk/efo/EFO_1001986 |
type 2 collagenopathy | http://purl.obolibrary.org/obo/MONDO_0022800 | http://purl.obolibrary.org/obo/MONDO_0004603 |
fibroblastic disorder | http://www.ebi.ac.uk/efo/EFO_0009432 | http://www.ebi.ac.uk/efo/EFO_1001986 |
panniculitis | http://www.ebi.ac.uk/efo/EFO_1000746 | http://www.ebi.ac.uk/efo/EFO_1001986 |
Panniculitis, Peritoneal | http://www.ebi.ac.uk/efo/EFO_1001384 | http://www.ebi.ac.uk/efo/EFO_1000746 |
nodular nonsuppurative panniculitis | http://www.ebi.ac.uk/efo/EFO_1000742 | http://www.ebi.ac.uk/efo/EFO_1000746 |
enthesopathy | http://www.ebi.ac.uk/efo/EFO_0009666 | http://www.ebi.ac.uk/efo/EFO_1001986 |
tibial collateral ligament bursitis | http://purl.obolibrary.org/obo/MONDO_0001747 | http://www.ebi.ac.uk/efo/EFO_0009666 |
olecranon bursitis | http://purl.obolibrary.org/obo/MONDO_0001557 | http://www.ebi.ac.uk/efo/EFO_0009666 |
enthesitis | http://purl.obolibrary.org/obo/MONDO_0024419 | http://www.ebi.ac.uk/efo/EFO_0009666 |
frozen shoulder | http://www.ebi.ac.uk/efo/EFO_1000941 | http://www.ebi.ac.uk/efo/EFO_1001986 |
disorder of visual system | http://purl.obolibrary.org/obo/MONDO_0024458 | http://www.ebi.ac.uk/efo/EFO_0000408 |
vision disorder | http://purl.obolibrary.org/obo/MONDO_0021084 | http://purl.obolibrary.org/obo/MONDO_0024458 |
visual pathway disorder | http://purl.obolibrary.org/obo/MONDO_0001834 | http://purl.obolibrary.org/obo/MONDO_0021084 |
blindness (disorder) | http://purl.obolibrary.org/obo/MONDO_0001941 | http://purl.obolibrary.org/obo/MONDO_0021084 |
color vision disorder | http://purl.obolibrary.org/obo/MONDO_0001703 | http://purl.obolibrary.org/obo/MONDO_0001941 |
acquired color blindness | http://purl.obolibrary.org/obo/MONDO_0001828 | http://purl.obolibrary.org/obo/MONDO_0001703 |
colorblindness, partial | http://purl.obolibrary.org/obo/MONDO_0000014 | http://purl.obolibrary.org/obo/MONDO_0001703 |
blue color blindness | http://purl.obolibrary.org/obo/MONDO_0008610 | http://purl.obolibrary.org/obo/MONDO_0001703 |
amblyopia | http://purl.obolibrary.org/obo/MONDO_0001020 | http://purl.obolibrary.org/obo/MONDO_0021084 |
optic nerve disorder | http://purl.obolibrary.org/obo/MONDO_0002135 | http://purl.obolibrary.org/obo/MONDO_0024458 |
optic atrophy | http://purl.obolibrary.org/obo/MONDO_0003608 | http://purl.obolibrary.org/obo/MONDO_0002135 |
primary optic atrophy | http://purl.obolibrary.org/obo/MONDO_0001084 | http://purl.obolibrary.org/obo/MONDO_0003608 |
hereditary optic atrophy | http://purl.obolibrary.org/obo/MONDO_0043878 | http://purl.obolibrary.org/obo/MONDO_0001084 |
Autosomal recessive optic atrophy | http://www.orpha.net/ORDO/Orphanet_98675 | http://purl.obolibrary.org/obo/MONDO_0043878 |
Autosomal recessive isolated optic atrophy | http://www.orpha.net/ORDO/Orphanet_98676 | http://www.orpha.net/ORDO/Orphanet_98675 |
Autosomal recessive optic atrophy, OPA7 type | http://www.orpha.net/ORDO/Orphanet_227976 | http://www.orpha.net/ORDO/Orphanet_98676 |
Autosomal dominant optic atrophy | http://www.orpha.net/ORDO/Orphanet_98672 | http://purl.obolibrary.org/obo/MONDO_0043878 |
Autosomal dominant optic atrophy, classic type | http://www.orpha.net/ORDO/Orphanet_98673 | http://www.orpha.net/ORDO/Orphanet_98672 |
Autosomal dominant optic atrophy and peripheral neuropathy | http://www.orpha.net/ORDO/Orphanet_250932 | http://www.orpha.net/ORDO/Orphanet_98672 |
Autosomal dominant optic atrophy plus syndrome | http://www.orpha.net/ORDO/Orphanet_1215 | http://www.orpha.net/ORDO/Orphanet_98672 |
Autosomal dominant optic atrophy and cataract | http://www.orpha.net/ORDO/Orphanet_67036 | http://www.orpha.net/ORDO/Orphanet_98672 |
optic atrophy 13 with retinal and foveal abnormalities | http://purl.obolibrary.org/obo/MONDO_0008135 | http://purl.obolibrary.org/obo/MONDO_0043878 |
Optic atrophy-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_401777 | http://purl.obolibrary.org/obo/MONDO_0043878 |
optic atrophy 12 | http://purl.obolibrary.org/obo/MONDO_0033549 | http://purl.obolibrary.org/obo/MONDO_0043878 |
papilledema | http://purl.obolibrary.org/obo/MONDO_0002003 | http://purl.obolibrary.org/obo/MONDO_0002135 |
Foster-Kennedy syndrome | http://www.ebi.ac.uk/efo/EFO_1001330 | http://purl.obolibrary.org/obo/MONDO_0002003 |
anterior ischemic optic neuropathy | http://www.ebi.ac.uk/efo/EFO_1000809 | http://purl.obolibrary.org/obo/MONDO_0002135 |
sudden infant death syndrome | http://www.ebi.ac.uk/efo/EFO_0005303 | http://www.ebi.ac.uk/efo/EFO_0000408 |
otorhinolaryngologic disease | http://purl.obolibrary.org/obo/MONDO_0024623 | http://www.ebi.ac.uk/efo/EFO_0000408 |
disorder of pharynx | http://purl.obolibrary.org/obo/MONDO_0020592 | http://purl.obolibrary.org/obo/MONDO_0024623 |
nasopharyngeal disorder | http://purl.obolibrary.org/obo/MONDO_0004821 | http://purl.obolibrary.org/obo/MONDO_0020592 |
nasopharyngitis | http://purl.obolibrary.org/obo/MONDO_0001040 | http://purl.obolibrary.org/obo/MONDO_0004821 |
common cold | http://www.ebi.ac.uk/efo/EFO_0007214 | http://purl.obolibrary.org/obo/MONDO_0001040 |
epiglottitis | http://www.ebi.ac.uk/efo/EFO_0007261 | http://purl.obolibrary.org/obo/MONDO_0020592 |
peritonsillar abscess | http://www.ebi.ac.uk/efo/EFO_0007429 | http://purl.obolibrary.org/obo/MONDO_0020592 |
autoimmune disease of ear, nose and throat | http://purl.obolibrary.org/obo/MONDO_0000587 | http://purl.obolibrary.org/obo/MONDO_0024623 |
genetic otorhinolaryngologic disease | http://purl.obolibrary.org/obo/MONDO_0018751 | http://purl.obolibrary.org/obo/MONDO_0024623 |
syndromic disease | http://purl.obolibrary.org/obo/MONDO_0002254 | http://www.ebi.ac.uk/efo/EFO_0000408 |
Tietze syndrome | http://purl.obolibrary.org/obo/MONDO_0001858 | http://purl.obolibrary.org/obo/MONDO_0002254 |
sick sinus syndrome | http://purl.obolibrary.org/obo/MONDO_0001823 | http://purl.obolibrary.org/obo/MONDO_0002254 |
familial sick sinus syndrome | http://purl.obolibrary.org/obo/MONDO_0012061 | http://purl.obolibrary.org/obo/MONDO_0001823 |
fibromatosis multiple non ossifying | http://purl.obolibrary.org/obo/MONDO_0023154 | http://purl.obolibrary.org/obo/MONDO_0002254 |
infantile convulsions and choreoathetosis | http://purl.obolibrary.org/obo/MONDO_0011178 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Stevens-Johnson syndrome | http://www.ebi.ac.uk/efo/EFO_0004276 | http://purl.obolibrary.org/obo/MONDO_0002254 |
nephrotic syndrome | http://www.ebi.ac.uk/efo/EFO_0004255 | http://purl.obolibrary.org/obo/MONDO_0002254 |
steroid-resistant nephrotic syndrome | http://purl.obolibrary.org/obo/MONDO_0044765 | http://www.ebi.ac.uk/efo/EFO_0004255 |
sporadic idiopathic steroid-resistant nephrotic syndrome | http://purl.obolibrary.org/obo/MONDO_0019401 | http://purl.obolibrary.org/obo/MONDO_0044765 |
sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy | http://purl.obolibrary.org/obo/MONDO_0019986 | http://purl.obolibrary.org/obo/MONDO_0019401 |
sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis | http://purl.obolibrary.org/obo/MONDO_0019655 | http://purl.obolibrary.org/obo/MONDO_0019401 |
sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis | http://purl.obolibrary.org/obo/MONDO_0019656 | http://purl.obolibrary.org/obo/MONDO_0019401 |
familial idiopathic steroid-resistant nephrotic syndrome | http://purl.obolibrary.org/obo/MONDO_0019006 | http://purl.obolibrary.org/obo/MONDO_0044765 |
focal segmental glomerulosclerosis 1 | http://purl.obolibrary.org/obo/MONDO_0011303 | http://purl.obolibrary.org/obo/MONDO_0019006 |
familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation | http://purl.obolibrary.org/obo/MONDO_0019652 | http://purl.obolibrary.org/obo/MONDO_0019006 |
familial idiopathic steroid-resistant nephrotic syndrome with minimal changes | http://purl.obolibrary.org/obo/MONDO_0019653 | http://purl.obolibrary.org/obo/MONDO_0019006 |
familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis | http://purl.obolibrary.org/obo/MONDO_0019654 | http://purl.obolibrary.org/obo/MONDO_0019006 |
familial nephrotic syndrome | http://purl.obolibrary.org/obo/MONDO_0002350 | http://www.ebi.ac.uk/efo/EFO_0004255 |
LAMB2-related infantile-onset nephrotic syndrome | http://purl.obolibrary.org/obo/MONDO_0013621 | http://purl.obolibrary.org/obo/MONDO_0002350 |
Pierson syndrome | http://purl.obolibrary.org/obo/MONDO_0012184 | http://purl.obolibrary.org/obo/MONDO_0013621 |
congenital nephrotic syndrome, Finnish type | http://purl.obolibrary.org/obo/MONDO_0009732 | http://purl.obolibrary.org/obo/MONDO_0002350 |
immunoglobulin-mediated membranoproliferative glomerulonephritis | http://purl.obolibrary.org/obo/MONDO_0014005 | http://purl.obolibrary.org/obo/MONDO_0002350 |
idiopathic nephrotic syndrome | http://purl.obolibrary.org/obo/MONDO_0018170 | http://www.ebi.ac.uk/efo/EFO_0004255 |
IMAGe syndrome | http://purl.obolibrary.org/obo/MONDO_0013873 | http://purl.obolibrary.org/obo/MONDO_0002254 |
radioulnar synostosis-microcephaly-scoliosis syndrome | http://purl.obolibrary.org/obo/MONDO_0011320 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Adie syndrome | http://www.ebi.ac.uk/efo/EFO_0004126 | http://purl.obolibrary.org/obo/MONDO_0002254 |
subclavian steal syndrome | http://www.ebi.ac.uk/efo/EFO_1001195 | http://purl.obolibrary.org/obo/MONDO_0002254 |
reflex sympathetic dystrophy | http://www.ebi.ac.uk/efo/EFO_1001147 | http://purl.obolibrary.org/obo/MONDO_0002254 |
lateral medullary syndrome | http://www.ebi.ac.uk/efo/EFO_1001011 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Landau-Kleffner syndrome | http://www.ebi.ac.uk/efo/EFO_1001010 | http://purl.obolibrary.org/obo/MONDO_0002254 |
continuous spikes and waves during sleep | http://purl.obolibrary.org/obo/MONDO_0019123 | http://www.ebi.ac.uk/efo/EFO_1001010 |
paraneoplastic syndrome | http://purl.obolibrary.org/obo/MONDO_0021073 | http://purl.obolibrary.org/obo/MONDO_0002254 |
paraneoplastic pemphigus | http://www.ebi.ac.uk/efo/EFO_0008602 | http://purl.obolibrary.org/obo/MONDO_0021073 |
paraneoplastic neurologic syndrome | http://purl.obolibrary.org/obo/MONDO_0018215 | http://purl.obolibrary.org/obo/MONDO_0021073 |
POEMS syndrome | http://www.ebi.ac.uk/efo/EFO_1001115 | http://purl.obolibrary.org/obo/MONDO_0018215 |
paraneoplastic polyneuropathy | http://www.ebi.ac.uk/efo/EFO_1001085 | http://purl.obolibrary.org/obo/MONDO_0018215 |
paraneoplastic cerebellar degeneration | http://purl.obolibrary.org/obo/MONDO_0044877 | http://purl.obolibrary.org/obo/MONDO_0018215 |
Alkuraya-Kucinskas syndrome | http://purl.obolibrary.org/obo/MONDO_0060631 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Kleine-Levin Syndrome | http://www.ebi.ac.uk/efo/EFO_1001354 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Perry syndrome | http://purl.obolibrary.org/obo/MONDO_0008201 | http://purl.obolibrary.org/obo/MONDO_0002254 |
dumping syndrome | http://www.ebi.ac.uk/efo/EFO_1001307 | http://purl.obolibrary.org/obo/MONDO_0002254 |
neuroleptic malignant syndrome | http://www.ebi.ac.uk/efo/EFO_1001379 | http://purl.obolibrary.org/obo/MONDO_0002254 |
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | http://purl.obolibrary.org/obo/MONDO_0060759 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Ververi-Brady syndrome | http://purl.obolibrary.org/obo/MONDO_0060707 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Jaberi-Elahi syndrome | http://purl.obolibrary.org/obo/MONDO_0060711 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Wernicke-Korsakoff syndrome | http://www.ebi.ac.uk/efo/EFO_1001242 | http://purl.obolibrary.org/obo/MONDO_0002254 |
tethered spinal cord syndrome | http://www.ebi.ac.uk/efo/EFO_1001210 | http://purl.obolibrary.org/obo/MONDO_0002254 |
tarsal tunnel syndrome | http://www.ebi.ac.uk/efo/EFO_1001208 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Liddle syndrome | http://purl.obolibrary.org/obo/MONDO_0008323 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Liddle syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0020854 | http://purl.obolibrary.org/obo/MONDO_0008323 |
capillary leak syndrome | http://www.ebi.ac.uk/efo/EFO_1001284 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Brown-Sequard Syndrome | http://www.ebi.ac.uk/efo/EFO_1001279 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Greig cephalopolysyndactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0008287 | http://purl.obolibrary.org/obo/MONDO_0002254 |
polydactyly-myopia syndrome | http://purl.obolibrary.org/obo/MONDO_0008268 | http://purl.obolibrary.org/obo/MONDO_0002254 |
hemophagocytic syndrome | http://purl.obolibrary.org/obo/MONDO_0015540 | http://purl.obolibrary.org/obo/MONDO_0002254 |
genetic hemophagocytic lymphohistiocytosis | http://purl.obolibrary.org/obo/MONDO_0015541 | http://purl.obolibrary.org/obo/MONDO_0015540 |
familial hemophagocytic lymphohistiocytosis type 1 | http://purl.obolibrary.org/obo/MONDO_0009974 | http://purl.obolibrary.org/obo/MONDO_0015541 |
X-linked lymphoproliferative syndrome | http://purl.obolibrary.org/obo/MONDO_0010627 | http://purl.obolibrary.org/obo/MONDO_0015541 |
hemophagocytic lymphohistiocytosis, familial, 6 | http://purl.obolibrary.org/obo/MONDO_0033557 | http://purl.obolibrary.org/obo/MONDO_0015541 |
secondary hemophagocytic lymphohistiocytosis | http://purl.obolibrary.org/obo/MONDO_0015542 | http://purl.obolibrary.org/obo/MONDO_0015540 |
macrophage activation syndrome | http://www.ebi.ac.uk/efo/EFO_1001806 | http://purl.obolibrary.org/obo/MONDO_0015542 |
Fanconi renotubular syndrome | http://purl.obolibrary.org/obo/MONDO_0001083 | http://purl.obolibrary.org/obo/MONDO_0002254 |
acquired Fanconi syndrome | http://purl.obolibrary.org/obo/MONDO_0060779 | http://purl.obolibrary.org/obo/MONDO_0001083 |
inherited Fanconi renotubular syndrome | http://purl.obolibrary.org/obo/MONDO_0100238 | http://purl.obolibrary.org/obo/MONDO_0001083 |
primary Fanconi syndrome | http://purl.obolibrary.org/obo/MONDO_0007600 | http://purl.obolibrary.org/obo/MONDO_0100238 |
Fanconi renotubular syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0024525 | http://purl.obolibrary.org/obo/MONDO_0007600 |
Tourette syndrome | http://www.ebi.ac.uk/efo/EFO_0004895 | http://purl.obolibrary.org/obo/MONDO_0002254 |
parkinsonism-dystonia, infantile | http://purl.obolibrary.org/obo/MONDO_0013150 | http://purl.obolibrary.org/obo/MONDO_0002254 |
alpha 1-antitrypsin deficiency | http://purl.obolibrary.org/obo/MONDO_0013282 | http://purl.obolibrary.org/obo/MONDO_0002254 |
syndromic uterovaginal malformation | http://purl.obolibrary.org/obo/MONDO_0015846 | http://purl.obolibrary.org/obo/MONDO_0002254 |
COG5-CDG | http://purl.obolibrary.org/obo/MONDO_0013325 | http://purl.obolibrary.org/obo/MONDO_0002254 |
syndromic dyslipidemia | http://purl.obolibrary.org/obo/MONDO_0015905 | http://purl.obolibrary.org/obo/MONDO_0002254 |
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | http://purl.obolibrary.org/obo/MONDO_0013760 | http://purl.obolibrary.org/obo/MONDO_0015905 |
developmental and epileptic encephalopathy, 12 | http://purl.obolibrary.org/obo/MONDO_0013389 | http://purl.obolibrary.org/obo/MONDO_0015905 |
lipoprotein glomerulopathy | http://purl.obolibrary.org/obo/MONDO_0012725 | http://purl.obolibrary.org/obo/MONDO_0015905 |
sea-blue histiocyte syndrome | http://purl.obolibrary.org/obo/MONDO_0010017 | http://purl.obolibrary.org/obo/MONDO_0015905 |
lysosomal acid lipase deficiency | http://purl.obolibrary.org/obo/MONDO_0010204 | http://purl.obolibrary.org/obo/MONDO_0015905 |
cholesteryl ester storage disease | http://purl.obolibrary.org/obo/MONDO_0019149 | http://purl.obolibrary.org/obo/MONDO_0010204 |
Wolman disease | http://purl.obolibrary.org/obo/MONDO_0019148 | http://purl.obolibrary.org/obo/MONDO_0010204 |
Dorfman-Chanarin disease | http://purl.obolibrary.org/obo/MONDO_0010155 | http://purl.obolibrary.org/obo/MONDO_0015905 |
hereditary spastic paraplegia 39 | http://purl.obolibrary.org/obo/MONDO_0012787 | http://purl.obolibrary.org/obo/MONDO_0015905 |
developmental and epileptic encephalopathy, 9 | http://purl.obolibrary.org/obo/MONDO_0010246 | http://purl.obolibrary.org/obo/MONDO_0015905 |
developmental and epileptic encephalopathy, 8 | http://purl.obolibrary.org/obo/MONDO_0010375 | http://purl.obolibrary.org/obo/MONDO_0015905 |
developmental and epileptic encephalopathy, 1 | http://purl.obolibrary.org/obo/MONDO_0010632 | http://purl.obolibrary.org/obo/MONDO_0015905 |
intellectual disability, autosomal recessive 53 | http://purl.obolibrary.org/obo/MONDO_0014832 | http://purl.obolibrary.org/obo/MONDO_0015905 |
neuronal ceroid lipofuscinosis 8 northern epilepsy variant | http://purl.obolibrary.org/obo/MONDO_0012391 | http://purl.obolibrary.org/obo/MONDO_0015905 |
sitosterolemia | http://purl.obolibrary.org/obo/MONDO_0008863 | http://purl.obolibrary.org/obo/MONDO_0015905 |
apparent mineralocorticoid excess syndrome | http://www.ebi.ac.uk/efo/EFO_1000817 | http://purl.obolibrary.org/obo/MONDO_0015905 |
Potter sequence | http://purl.obolibrary.org/obo/MONDO_0001558 | http://purl.obolibrary.org/obo/MONDO_0002254 |
microcephaly-capillary malformation syndrome | http://purl.obolibrary.org/obo/MONDO_0013659 | http://purl.obolibrary.org/obo/MONDO_0002254 |
chronic fatigue syndrome | http://www.ebi.ac.uk/efo/EFO_0004540 | http://purl.obolibrary.org/obo/MONDO_0002254 |
hereditary continuous muscle fiber activity | http://purl.obolibrary.org/obo/MONDO_0019943 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Stankiewicz-Isidor syndrome | http://purl.obolibrary.org/obo/MONDO_0054591 | http://purl.obolibrary.org/obo/MONDO_0002254 |
mirror polydactyly-vertebral segmentation-limbs defects syndrome | http://purl.obolibrary.org/obo/MONDO_0017583 | http://purl.obolibrary.org/obo/MONDO_0002254 |
FRAXF syndrome | http://purl.obolibrary.org/obo/MONDO_0015084 | http://purl.obolibrary.org/obo/MONDO_0002254 |
complex hereditary spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0015150 | http://purl.obolibrary.org/obo/MONDO_0002254 |
hereditary spastic paraplegia 11 | http://purl.obolibrary.org/obo/MONDO_0011445 | http://purl.obolibrary.org/obo/MONDO_0015150 |
autosomal recessive complex spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0015089 | http://purl.obolibrary.org/obo/MONDO_0015150 |
hereditary spastic paraplegia 46 | http://purl.obolibrary.org/obo/MONDO_0013737 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 53 | http://purl.obolibrary.org/obo/MONDO_0013962 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 24 | http://purl.obolibrary.org/obo/MONDO_0011862 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 25 | http://purl.obolibrary.org/obo/MONDO_0011992 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 44 | http://purl.obolibrary.org/obo/MONDO_0013179 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 45 | http://purl.obolibrary.org/obo/MONDO_0013165 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary sensory and autonomic neuropathy with spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0009748 | http://purl.obolibrary.org/obo/MONDO_0015089 |
AP4-related intellectual disability and spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0017241 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 50 | http://purl.obolibrary.org/obo/MONDO_0013048 | http://purl.obolibrary.org/obo/MONDO_0017241 |
hereditary spastic paraplegia 51 | http://purl.obolibrary.org/obo/MONDO_0013401 | http://purl.obolibrary.org/obo/MONDO_0017241 |
hereditary spastic paraplegia 47 | http://purl.obolibrary.org/obo/MONDO_0013551 | http://purl.obolibrary.org/obo/MONDO_0017241 |
hereditary spastic paraplegia 52 | http://purl.obolibrary.org/obo/MONDO_0013552 | http://purl.obolibrary.org/obo/MONDO_0017241 |
spastic paraplegia-glaucoma-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0010049 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 23 | http://purl.obolibrary.org/obo/MONDO_0010046 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 15 | http://purl.obolibrary.org/obo/MONDO_0010044 | http://purl.obolibrary.org/obo/MONDO_0015089 |
spastic ataxia 2 | http://purl.obolibrary.org/obo/MONDO_0012651 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 18 | http://purl.obolibrary.org/obo/MONDO_0012639 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 32 | http://purl.obolibrary.org/obo/MONDO_0012643 | http://purl.obolibrary.org/obo/MONDO_0015089 |
Troyer syndrome | http://purl.obolibrary.org/obo/MONDO_0010156 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 61 | http://purl.obolibrary.org/obo/MONDO_0014304 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 63 | http://purl.obolibrary.org/obo/MONDO_0014305 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 64 | http://purl.obolibrary.org/obo/MONDO_0014303 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 27 | http://purl.obolibrary.org/obo/MONDO_0012181 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 26 | http://purl.obolibrary.org/obo/MONDO_0012213 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 43 | http://purl.obolibrary.org/obo/MONDO_0014024 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 54 | http://purl.obolibrary.org/obo/MONDO_0014018 | http://purl.obolibrary.org/obo/MONDO_0015089 |
hereditary spastic paraplegia 49 | http://purl.obolibrary.org/obo/MONDO_0014016 | http://purl.obolibrary.org/obo/MONDO_0015089 |
autosomal recessive spastic paraplegia type 68 | http://purl.obolibrary.org/obo/MONDO_0018420 | http://purl.obolibrary.org/obo/MONDO_0015089 |
autosomal recessive spastic paraplegia type 69 | http://purl.obolibrary.org/obo/MONDO_0018421 | http://purl.obolibrary.org/obo/MONDO_0015089 |
autosomal recessive spastic paraplegia type 70 | http://purl.obolibrary.org/obo/MONDO_0018422 | http://purl.obolibrary.org/obo/MONDO_0015089 |
autosomal recessive spastic paraplegia type 59 | http://purl.obolibrary.org/obo/MONDO_0018416 | http://purl.obolibrary.org/obo/MONDO_0015089 |
autosomal recessive spastic paraplegia type 60 | http://purl.obolibrary.org/obo/MONDO_0018417 | http://purl.obolibrary.org/obo/MONDO_0015089 |
autosomal recessive spastic paraplegia type 66 | http://purl.obolibrary.org/obo/MONDO_0018418 | http://purl.obolibrary.org/obo/MONDO_0015089 |
autosomal recessive spastic paraplegia type 67 | http://purl.obolibrary.org/obo/MONDO_0018419 | http://purl.obolibrary.org/obo/MONDO_0015089 |
autosomal dominant complex spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0015087 | http://purl.obolibrary.org/obo/MONDO_0015150 |
hereditary spastic paraplegia 36 | http://purl.obolibrary.org/obo/MONDO_0013132 | http://purl.obolibrary.org/obo/MONDO_0015087 |
autosomal dominant spastic paraplegia type 9 | http://purl.obolibrary.org/obo/MONDO_0015091 | http://purl.obolibrary.org/obo/MONDO_0015087 |
spastic paraplegia-facial-cutaneous lesions syndrome | http://purl.obolibrary.org/obo/MONDO_0017275 | http://purl.obolibrary.org/obo/MONDO_0015087 |
hereditary spastic paraplegia 17 | http://purl.obolibrary.org/obo/MONDO_0010043 | http://purl.obolibrary.org/obo/MONDO_0015087 |
hereditary spastic paraplegia 38 | http://purl.obolibrary.org/obo/MONDO_0012867 | http://purl.obolibrary.org/obo/MONDO_0015087 |
hereditary spastic paraplegia 29 | http://purl.obolibrary.org/obo/MONDO_0012334 | http://purl.obolibrary.org/obo/MONDO_0015087 |
spastic paraplegia-neuropathy-poikiloderma syndrome | http://purl.obolibrary.org/obo/MONDO_0008442 | http://purl.obolibrary.org/obo/MONDO_0015087 |
spastic paraplegia-precocious puberty syndrome | http://purl.obolibrary.org/obo/MONDO_0008443 | http://purl.obolibrary.org/obo/MONDO_0015087 |
spastic paraplegia-epilepsy-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0008439 | http://purl.obolibrary.org/obo/MONDO_0015087 |
spastic paraplegia-Paget disease of bone syndrome | http://purl.obolibrary.org/obo/MONDO_0018005 | http://purl.obolibrary.org/obo/MONDO_0015087 |
maternally-inherited spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0017917 | http://purl.obolibrary.org/obo/MONDO_0015150 |
X-linked complex spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0020339 | http://purl.obolibrary.org/obo/MONDO_0015150 |
disappearing bone disease | http://purl.obolibrary.org/obo/MONDO_0003157 | http://purl.obolibrary.org/obo/MONDO_0002254 |
cardiomyopathy-cataract-hip spine disease syndrome | http://purl.obolibrary.org/obo/MONDO_0015282 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Brugada syndrome | http://purl.obolibrary.org/obo/MONDO_0015263 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Bartter syndrome | http://purl.obolibrary.org/obo/MONDO_0015231 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Bartter disease type 3 | http://purl.obolibrary.org/obo/MONDO_0011822 | http://purl.obolibrary.org/obo/MONDO_0015231 |
Infantile Bartter syndrome with sensorineural deafness | http://www.orpha.net/ORDO/Orphanet_89938 | http://purl.obolibrary.org/obo/MONDO_0015231 |
Bartter syndrome with hypocalcemia | http://purl.obolibrary.org/obo/MONDO_0016983 | http://purl.obolibrary.org/obo/MONDO_0015231 |
antenatal Bartter syndrome | http://purl.obolibrary.org/obo/MONDO_0100343 | http://purl.obolibrary.org/obo/MONDO_0015231 |
obstructive sleep apnea | http://www.ebi.ac.uk/efo/EFO_0003918 | http://purl.obolibrary.org/obo/MONDO_0002254 |
complex sleep apnea | http://purl.obolibrary.org/obo/MONDO_0024358 | http://www.ebi.ac.uk/efo/EFO_0003918 |
autism-facial port-wine stain syndrome | http://purl.obolibrary.org/obo/MONDO_0015311 | http://purl.obolibrary.org/obo/MONDO_0002254 |
tubular renal disease-cardiomyopathy syndrome | http://purl.obolibrary.org/obo/MONDO_0019130 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Pearson syndrome | http://purl.obolibrary.org/obo/MONDO_0010797 | http://purl.obolibrary.org/obo/MONDO_0002254 |
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome | http://purl.obolibrary.org/obo/MONDO_0010798 | http://purl.obolibrary.org/obo/MONDO_0002254 |
circumscribed cutaneous aplasia of the vertex | http://purl.obolibrary.org/obo/MONDO_0022770 | http://purl.obolibrary.org/obo/MONDO_0002254 |
chondrodysplasia | http://purl.obolibrary.org/obo/MONDO_0022723 | http://purl.obolibrary.org/obo/MONDO_0002254 |
nephronophthisis 1 | http://purl.obolibrary.org/obo/MONDO_0009728 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Hypereosinophilic syndrome | http://www.ebi.ac.uk/efo/EFO_1001467 | http://purl.obolibrary.org/obo/MONDO_0002254 |
idiopathic hypereosinophilic syndrome | http://purl.obolibrary.org/obo/MONDO_0011895 | http://www.ebi.ac.uk/efo/EFO_1001467 |
Eosinophilia-Myalgia Syndrome | http://www.ebi.ac.uk/efo/EFO_1001316 | http://www.ebi.ac.uk/efo/EFO_1001467 |
dilated cardiomyopathy 1A | http://purl.obolibrary.org/obo/MONDO_0007269 | http://purl.obolibrary.org/obo/MONDO_0002254 |
corticobasal degeneration | http://purl.obolibrary.org/obo/MONDO_0022880 | http://purl.obolibrary.org/obo/MONDO_0002254 |
peroxisome biogenesis disorder | http://purl.obolibrary.org/obo/MONDO_0019234 | http://purl.obolibrary.org/obo/MONDO_0002254 |
non-Zellweger spectrum disorder | http://purl.obolibrary.org/obo/MONDO_0100322 | http://purl.obolibrary.org/obo/MONDO_0019234 |
peroxisome biogenesis disorder due to PEX7 defect | http://purl.obolibrary.org/obo/MONDO_0100272 | http://purl.obolibrary.org/obo/MONDO_0100322 |
Sillence syndrome | http://purl.obolibrary.org/obo/MONDO_0007227 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Shwachman-Diamond syndrome | http://purl.obolibrary.org/obo/MONDO_0009833 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Parana hard-skin syndrome | http://purl.obolibrary.org/obo/MONDO_0009838 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Lown-Ganong-Levine syndrome | http://purl.obolibrary.org/obo/MONDO_0007174 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Gitelman syndrome | http://purl.obolibrary.org/obo/MONDO_0009904 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Susac Syndrome | http://www.ebi.ac.uk/efo/EFO_1001856 | http://purl.obolibrary.org/obo/MONDO_0002254 |
syndromic nail anomaly | http://purl.obolibrary.org/obo/MONDO_0019285 | http://purl.obolibrary.org/obo/MONDO_0002254 |
odontomicronychial dysplasia | http://purl.obolibrary.org/obo/MONDO_0011034 | http://purl.obolibrary.org/obo/MONDO_0019285 |
anonychia with flexural pigmentation | http://purl.obolibrary.org/obo/MONDO_0007131 | http://purl.obolibrary.org/obo/MONDO_0019285 |
FLOTCH syndrome | http://purl.obolibrary.org/obo/MONDO_0016083 | http://purl.obolibrary.org/obo/MONDO_0019285 |
leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome | http://purl.obolibrary.org/obo/MONDO_0016213 | http://purl.obolibrary.org/obo/MONDO_0019285 |
syndromic hair shaft abnormality | http://purl.obolibrary.org/obo/MONDO_0019282 | http://purl.obolibrary.org/obo/MONDO_0002254 |
trichodental syndrome | http://purl.obolibrary.org/obo/MONDO_0011083 | http://purl.obolibrary.org/obo/MONDO_0019282 |
pili torti-developmental delay-neurological abnormalities syndrome | http://purl.obolibrary.org/obo/MONDO_0009871 | http://purl.obolibrary.org/obo/MONDO_0019282 |
Menkes disease | http://purl.obolibrary.org/obo/MONDO_0010651 | http://purl.obolibrary.org/obo/MONDO_0019282 |
Crandall syndrome | http://purl.obolibrary.org/obo/MONDO_0016067 | http://purl.obolibrary.org/obo/MONDO_0019282 |
trichodysplasia-xeroderma syndrome | http://purl.obolibrary.org/obo/MONDO_0008598 | http://purl.obolibrary.org/obo/MONDO_0019282 |
tricho-dento-osseous syndrome | http://purl.obolibrary.org/obo/MONDO_0008592 | http://purl.obolibrary.org/obo/MONDO_0019282 |
trichothiodystrophy | http://purl.obolibrary.org/obo/MONDO_0018053 | http://purl.obolibrary.org/obo/MONDO_0019282 |
photosensitive trichothiodystrophy | http://purl.obolibrary.org/obo/MONDO_0002470 | http://purl.obolibrary.org/obo/MONDO_0018053 |
trichothiodystrophy 3, photosensitive | http://purl.obolibrary.org/obo/MONDO_0014619 | http://purl.obolibrary.org/obo/MONDO_0002470 |
ectodermal dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0019287 | http://purl.obolibrary.org/obo/MONDO_0002254 |
odonto-tricho-ungual-digito-palmar syndrome | http://purl.obolibrary.org/obo/MONDO_0011171 | http://purl.obolibrary.org/obo/MONDO_0019287 |
tricho-oculo-dermo-vertebral syndrome | http://purl.obolibrary.org/obo/MONDO_0011131 | http://purl.obolibrary.org/obo/MONDO_0019287 |
congenital hypotrichosis with juvenile macular dystrophy | http://purl.obolibrary.org/obo/MONDO_0011107 | http://purl.obolibrary.org/obo/MONDO_0019287 |
Fried's tooth and nail syndrome | http://purl.obolibrary.org/obo/MONDO_0011219 | http://purl.obolibrary.org/obo/MONDO_0019287 |
epidermolysis bullosa simplex due to plakophilin deficiency | http://purl.obolibrary.org/obo/MONDO_0011472 | http://purl.obolibrary.org/obo/MONDO_0019287 |
arrhythmogenic cardiomyopathy with woolly hair and keratoderma | http://purl.obolibrary.org/obo/MONDO_0011581 | http://purl.obolibrary.org/obo/MONDO_0019287 |
Cronkhite-Canada syndrome | http://purl.obolibrary.org/obo/MONDO_0008283 | http://purl.obolibrary.org/obo/MONDO_0019287 |
dyskeratosis congenita | http://purl.obolibrary.org/obo/MONDO_0015780 | http://purl.obolibrary.org/obo/MONDO_0019287 |
dyskeratosis congenita, autosomal dominant 2 | http://purl.obolibrary.org/obo/MONDO_0013521 | http://purl.obolibrary.org/obo/MONDO_0015780 |
DKC1-related disorder | http://purl.obolibrary.org/obo/MONDO_0100152 | http://purl.obolibrary.org/obo/MONDO_0015780 |
dyskeratosis congenita, X-linked | http://purl.obolibrary.org/obo/MONDO_0010584 | http://purl.obolibrary.org/obo/MONDO_0100152 |
dyskeratosis congenita, autosomal recessive 5 | http://purl.obolibrary.org/obo/MONDO_0014076 | http://purl.obolibrary.org/obo/MONDO_0015780 |
hidrotic ectodermal dysplasia, Halal type | http://purl.obolibrary.org/obo/MONDO_0015883 | http://purl.obolibrary.org/obo/MONDO_0019287 |
ectodermal dysplasia-syndactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0013311 | http://purl.obolibrary.org/obo/MONDO_0019287 |
ectodermal dysplasia-cutaneous syndactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0013313 | http://purl.obolibrary.org/obo/MONDO_0013311 |
hidrotic ectodermal dysplasia, Christianson-Fourie type | http://purl.obolibrary.org/obo/MONDO_0011063 | http://purl.obolibrary.org/obo/MONDO_0019287 |
ectodermal dysplasia with natal teeth, Turnpenny type | http://purl.obolibrary.org/obo/MONDO_0011041 | http://purl.obolibrary.org/obo/MONDO_0019287 |
pili torti-onychodysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0017321 | http://purl.obolibrary.org/obo/MONDO_0019287 |
choroidal atrophy-alopecia syndrome | http://purl.obolibrary.org/obo/MONDO_0015428 | http://purl.obolibrary.org/obo/MONDO_0019287 |
pure hair and nail ectodermal dysplasia | http://purl.obolibrary.org/obo/MONDO_0019071 | http://purl.obolibrary.org/obo/MONDO_0019287 |
ameloonychohypohidrotic syndrome | http://purl.obolibrary.org/obo/MONDO_0007095 | http://purl.obolibrary.org/obo/MONDO_0019287 |
trichodysplasia-amelogenesis imperfecta syndrome | http://purl.obolibrary.org/obo/MONDO_0019205 | http://purl.obolibrary.org/obo/MONDO_0019287 |
sparse hair-short stature-skin anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0019206 | http://purl.obolibrary.org/obo/MONDO_0019287 |
pilodental dysplasia-refractive errors syndrome | http://purl.obolibrary.org/obo/MONDO_0009873 | http://purl.obolibrary.org/obo/MONDO_0019287 |
Toriello-Lacassie-Droste syndrome | http://purl.obolibrary.org/obo/MONDO_0010854 | http://purl.obolibrary.org/obo/MONDO_0019287 |
Böök syndrome | http://purl.obolibrary.org/obo/MONDO_0007207 | http://purl.obolibrary.org/obo/MONDO_0019287 |
dermotrichic syndrome | http://purl.obolibrary.org/obo/MONDO_0020475 | http://purl.obolibrary.org/obo/MONDO_0019287 |
dermo-odonto dysplasia | http://purl.obolibrary.org/obo/MONDO_0007449 | http://purl.obolibrary.org/obo/MONDO_0019287 |
ectodermal dysplasia, trichoodontoonychial type | http://purl.obolibrary.org/obo/MONDO_0007511 | http://purl.obolibrary.org/obo/MONDO_0019287 |
hypertrichosis cubiti-short stature syndrome | http://purl.obolibrary.org/obo/MONDO_0007693 | http://purl.obolibrary.org/obo/MONDO_0019287 |
gingival fibromatosis-hypertrichosis syndrome | http://purl.obolibrary.org/obo/MONDO_0007610 | http://purl.obolibrary.org/obo/MONDO_0019287 |
odonto-onycho dysplasia-alopecia syndrome | http://purl.obolibrary.org/obo/MONDO_0017134 | http://purl.obolibrary.org/obo/MONDO_0019287 |
dermatoosteolysis, Kirghizian type | http://purl.obolibrary.org/obo/MONDO_0009095 | http://purl.obolibrary.org/obo/MONDO_0019287 |
conductive deafness-ptosis-skeletal anomalies syndrome | http://purl.obolibrary.org/obo/MONDO_0009084 | http://purl.obolibrary.org/obo/MONDO_0019287 |
cerebellar ataxia-ectodermal dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0008934 | http://purl.obolibrary.org/obo/MONDO_0019287 |
focal facial dermal dysplasia | http://purl.obolibrary.org/obo/MONDO_0018363 | http://purl.obolibrary.org/obo/MONDO_0019287 |
focal facial dermal dysplasia type IV | http://purl.obolibrary.org/obo/MONDO_0013997 | http://purl.obolibrary.org/obo/MONDO_0018363 |
focal facial dermal dysplasia type I | http://purl.obolibrary.org/obo/MONDO_0007627 | http://purl.obolibrary.org/obo/MONDO_0018363 |
focal facial dermal dysplasia type III | http://purl.obolibrary.org/obo/MONDO_0009203 | http://purl.obolibrary.org/obo/MONDO_0018363 |
focal facial dermal dysplasia type II | http://purl.obolibrary.org/obo/MONDO_0013996 | http://purl.obolibrary.org/obo/MONDO_0009203 |
oculoosteocutaneous syndrome | http://purl.obolibrary.org/obo/MONDO_0008884 | http://purl.obolibrary.org/obo/MONDO_0019287 |
autosomal dominant trichoodontoonychodysplasia-syndactyly | http://purl.obolibrary.org/obo/MONDO_0018062 | http://purl.obolibrary.org/obo/MONDO_0019287 |
trichodermodysplasia-dental alterations syndrome | http://purl.obolibrary.org/obo/MONDO_0018061 | http://purl.obolibrary.org/obo/MONDO_0019287 |
alopecia - contractures - dwarfism - intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0008754 | http://purl.obolibrary.org/obo/MONDO_0019287 |
tricho-retino-dento-digital syndrome | http://purl.obolibrary.org/obo/MONDO_0008622 | http://purl.obolibrary.org/obo/MONDO_0019287 |
tooth and nail syndrome | http://purl.obolibrary.org/obo/MONDO_0008582 | http://purl.obolibrary.org/obo/MONDO_0019287 |
ectodermal dysplasia WNT10A related | http://purl.obolibrary.org/obo/MONDO_0100358 | http://purl.obolibrary.org/obo/MONDO_0019287 |
hypertrichosis lanuginosa congenita | http://purl.obolibrary.org/obo/MONDO_0016381 | http://purl.obolibrary.org/obo/MONDO_0019287 |
Ambras type hypertrichosis universalis congenita | http://purl.obolibrary.org/obo/MONDO_0007787 | http://purl.obolibrary.org/obo/MONDO_0016381 |
X-linked congenital generalized hypertrichosis | http://purl.obolibrary.org/obo/MONDO_0010614 | http://purl.obolibrary.org/obo/MONDO_0016381 |
Lelis syndrome | http://purl.obolibrary.org/obo/MONDO_0012008 | http://purl.obolibrary.org/obo/MONDO_0019287 |
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome | http://purl.obolibrary.org/obo/MONDO_0009522 | http://purl.obolibrary.org/obo/MONDO_0019287 |
ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0009444 | http://purl.obolibrary.org/obo/MONDO_0019287 |
taurodontia-absent teeth-sparse hair syndrome | http://purl.obolibrary.org/obo/MONDO_0010102 | http://purl.obolibrary.org/obo/MONDO_0019287 |
ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome | http://purl.obolibrary.org/obo/MONDO_0009149 | http://purl.obolibrary.org/obo/MONDO_0019287 |
trichoodontoonychial dysplasia | http://purl.obolibrary.org/obo/MONDO_0010153 | http://purl.obolibrary.org/obo/MONDO_0019287 |
trichomegaly-retina pigmentary degeneration-dwarfism syndrome | http://purl.obolibrary.org/obo/MONDO_0010152 | http://purl.obolibrary.org/obo/MONDO_0019287 |
amelocerebrohypohidrotic syndrome | http://purl.obolibrary.org/obo/MONDO_0009185 | http://purl.obolibrary.org/obo/MONDO_0019287 |
subcortical band heterotopia | http://purl.obolibrary.org/obo/MONDO_0020491 | http://purl.obolibrary.org/obo/MONDO_0002254 |
syndromic lymphedema | http://purl.obolibrary.org/obo/MONDO_0019520 | http://purl.obolibrary.org/obo/MONDO_0002254 |
lymphedema-atrial septal defects-facial changes syndrome | http://purl.obolibrary.org/obo/MONDO_0011166 | http://purl.obolibrary.org/obo/MONDO_0019520 |
lymphedema-cerebral arteriovenous anomaly syndrome | http://purl.obolibrary.org/obo/MONDO_0007917 | http://purl.obolibrary.org/obo/MONDO_0019520 |
mullerian derivatives-lymphangiectasia-polydactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009333 | http://purl.obolibrary.org/obo/MONDO_0019520 |
aplasia cutis congenita-intestinal lymphangiectasia syndrome | http://purl.obolibrary.org/obo/MONDO_0008808 | http://purl.obolibrary.org/obo/MONDO_0019520 |
gray platelet syndrome | http://purl.obolibrary.org/obo/MONDO_0007686 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Gamstorp-Wohlfart syndrome | http://purl.obolibrary.org/obo/MONDO_0007646 | http://purl.obolibrary.org/obo/MONDO_0002254 |
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome | http://purl.obolibrary.org/obo/MONDO_0017199 | http://purl.obolibrary.org/obo/MONDO_0002254 |
inherited ichthyosis syndromic form | http://purl.obolibrary.org/obo/MONDO_0017263 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Epidermal nevus syndrome | http://www.orpha.net/ORDO/Orphanet_35125 | http://purl.obolibrary.org/obo/MONDO_0017263 |
autosomal ichthyosis syndrome | http://purl.obolibrary.org/obo/MONDO_0017270 | http://purl.obolibrary.org/obo/MONDO_0017263 |
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0017837 | http://purl.obolibrary.org/obo/MONDO_0017270 |
ichthyosis-cheek-eyebrow syndrome | http://purl.obolibrary.org/obo/MONDO_0007811 | http://purl.obolibrary.org/obo/MONDO_0017270 |
DK1-CDG | http://purl.obolibrary.org/obo/MONDO_0012556 | http://purl.obolibrary.org/obo/MONDO_0017270 |
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome | http://purl.obolibrary.org/obo/MONDO_0009445 | http://purl.obolibrary.org/obo/MONDO_0017270 |
ichthyosis prematurity syndrome | http://purl.obolibrary.org/obo/MONDO_0012089 | http://purl.obolibrary.org/obo/MONDO_0017270 |
congenital ichthyosis-microcephalus-tetraplegia syndrome | http://purl.obolibrary.org/obo/MONDO_0016417 | http://purl.obolibrary.org/obo/MONDO_0017270 |
X-linked ichthyosis syndrome | http://purl.obolibrary.org/obo/MONDO_0017269 | http://purl.obolibrary.org/obo/MONDO_0017263 |
IFAP syndrome with or without BRESHECK syndrome | http://purl.obolibrary.org/obo/MONDO_0100213 | http://purl.obolibrary.org/obo/MONDO_0017269 |
IFAP syndrome | http://purl.obolibrary.org/obo/MONDO_0100212 | http://purl.obolibrary.org/obo/MONDO_0017263 |
IFAP syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0100221 | http://purl.obolibrary.org/obo/MONDO_0100212 |
inclusion body myopathy with Paget disease of bone and frontotemporal dementia | http://purl.obolibrary.org/obo/MONDO_0000507 | http://purl.obolibrary.org/obo/MONDO_0002254 |
syndromic intellectual disability | http://purl.obolibrary.org/obo/MONDO_0000508 | http://purl.obolibrary.org/obo/MONDO_0002254 |
PHGDH deficiency | http://purl.obolibrary.org/obo/MONDO_0011152 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | http://purl.obolibrary.org/obo/MONDO_0060763 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | http://purl.obolibrary.org/obo/MONDO_0060760 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual disability-severe speech delay-mild dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0013352 | http://purl.obolibrary.org/obo/MONDO_0000508 |
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | http://purl.obolibrary.org/obo/MONDO_0013404 | http://purl.obolibrary.org/obo/MONDO_0000508 |
PSPH deficiency | http://purl.obolibrary.org/obo/MONDO_0013531 | http://purl.obolibrary.org/obo/MONDO_0000508 |
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome | http://purl.obolibrary.org/obo/MONDO_0017379 | http://purl.obolibrary.org/obo/MONDO_0000508 |
early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | http://purl.obolibrary.org/obo/MONDO_0017325 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome | http://purl.obolibrary.org/obo/MONDO_0017642 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual disability-hypotonia-skin hyperpigmentation syndrome | http://purl.obolibrary.org/obo/MONDO_0017613 | http://purl.obolibrary.org/obo/MONDO_0000508 |
developmental and speech delay due to SOX5 deficiency | http://purl.obolibrary.org/obo/MONDO_0017782 | http://purl.obolibrary.org/obo/MONDO_0000508 |
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0017918 | http://purl.obolibrary.org/obo/MONDO_0000508 |
X-linked syndromic intellectual disability | http://purl.obolibrary.org/obo/MONDO_0020119 | http://purl.obolibrary.org/obo/MONDO_0000508 |
Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis | http://www.orpha.net/ORDO/Orphanet_86818 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - cerebellar hypoplasia | http://www.orpha.net/ORDO/Orphanet_137831 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - epilepsy | http://www.orpha.net/ORDO/Orphanet_2076 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked dominant intellectual disability - epilepsy syndrome | http://www.orpha.net/ORDO/Orphanet_93951 | http://www.orpha.net/ORDO/Orphanet_2076 |
X-linked intellectual disability, Hedera type | http://www.orpha.net/ORDO/Orphanet_93952 | http://www.orpha.net/ORDO/Orphanet_2076 |
Hyperekplexia - epilepsy | http://www.orpha.net/ORDO/Orphanet_163985 | http://www.orpha.net/ORDO/Orphanet_2076 |
Lissencephaly type 1 due to doublecortin gene mutation | http://www.orpha.net/ORDO/Orphanet_2148 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Keratosis follicularis - dwarfism - cerebral atrophy | http://www.orpha.net/ORDO/Orphanet_2339 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Early-onset parkinsonism - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2379 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Laryngeal abductor paralysis - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2375 | http://purl.obolibrary.org/obo/MONDO_0020119 |
rolandic epilepsy-speech dyspraxia syndrome | http://purl.obolibrary.org/obo/MONDO_0015587 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked Charcot-Marie-Tooth disease | http://www.orpha.net/ORDO/Orphanet_64747 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked Charcot-Marie-Tooth disease type 2 | http://www.orpha.net/ORDO/Orphanet_101076 | http://www.orpha.net/ORDO/Orphanet_64747 |
X-linked Charcot-Marie-Tooth disease type 1 | http://www.orpha.net/ORDO/Orphanet_101075 | http://www.orpha.net/ORDO/Orphanet_64747 |
X-linked Charcot-Marie-Tooth disease type 4 | http://www.orpha.net/ORDO/Orphanet_101078 | http://www.orpha.net/ORDO/Orphanet_64747 |
X-linked Charcot-Marie-Tooth disease type 3 | http://www.orpha.net/ORDO/Orphanet_101077 | http://www.orpha.net/ORDO/Orphanet_64747 |
X-linked Charcot-Marie-Tooth disease type 6 | http://www.orpha.net/ORDO/Orphanet_352675 | http://www.orpha.net/ORDO/Orphanet_64747 |
X-linked intellectual disability, Cilliers type | http://purl.obolibrary.org/obo/MONDO_0015600 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, van Esch type | http://purl.obolibrary.org/obo/MONDO_0015601 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Syndromic neurometabolic disease with X-linked intellectual disability | http://www.orpha.net/ORDO/Orphanet_182076 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked creatine transporter deficiency | http://www.orpha.net/ORDO/Orphanet_52503 | http://www.orpha.net/ORDO/Orphanet_182076 |
Hypoxanthine-guanine phosphoribosyltransferase deficiency | http://www.orpha.net/ORDO/Orphanet_206428 | http://www.orpha.net/ORDO/Orphanet_182076 |
Hypoxanthine guanine phosphoribosyltransferase partial deficiency | http://www.orpha.net/ORDO/Orphanet_79233 | http://www.orpha.net/ORDO/Orphanet_206428 |
Glycerol kinase deficiency, infantile form | http://www.orpha.net/ORDO/Orphanet_284408 | http://www.orpha.net/ORDO/Orphanet_182076 |
Pyruvate dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_765 | http://www.orpha.net/ORDO/Orphanet_182076 |
Pyruvate dehydrogenase E3-binding protein deficiency | http://www.orpha.net/ORDO/Orphanet_255182 | http://www.orpha.net/ORDO/Orphanet_765 |
Pyruvate dehydrogenase E1-beta deficiency | http://www.orpha.net/ORDO/Orphanet_255138 | http://www.orpha.net/ORDO/Orphanet_765 |
Pyruvate dehydrogenase E3 deficiency | http://www.orpha.net/ORDO/Orphanet_2394 | http://www.orpha.net/ORDO/Orphanet_765 |
Pyruvate dehydrogenase E2 deficiency | http://www.orpha.net/ORDO/Orphanet_79244 | http://www.orpha.net/ORDO/Orphanet_765 |
Pyruvate dehydrogenase E1-alpha deficiency | http://www.orpha.net/ORDO/Orphanet_79243 | http://www.orpha.net/ORDO/Orphanet_765 |
Pyruvate dehydrogenase phosphatase deficiency | http://www.orpha.net/ORDO/Orphanet_79246 | http://www.orpha.net/ORDO/Orphanet_765 |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | http://www.orpha.net/ORDO/Orphanet_713 | http://www.orpha.net/ORDO/Orphanet_182076 |
Phosphoribosylpyrophosphate synthetase superactivity | http://www.orpha.net/ORDO/Orphanet_3222 | http://www.orpha.net/ORDO/Orphanet_182076 |
Monoamine oxidase A deficiency | http://www.orpha.net/ORDO/Orphanet_3057 | http://www.orpha.net/ORDO/Orphanet_182076 |
X-linked congenital disorder of glycosylation with intellectual disability as a major feature | http://www.orpha.net/ORDO/Orphanet_371054 | http://www.orpha.net/ORDO/Orphanet_182076 |
Ornithine transcarbamylase deficiency | http://www.ebi.ac.uk/efo/EFO_0007409 | http://www.orpha.net/ORDO/Orphanet_182076 |
X-linked intellectual disability, Schutz type | http://purl.obolibrary.org/obo/MONDO_0017616 | http://purl.obolibrary.org/obo/MONDO_0020119 |
atypical Rett syndrome | http://purl.obolibrary.org/obo/MONDO_0017746 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked spasticity-intellectual disability-epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0017856 | http://purl.obolibrary.org/obo/MONDO_0020119 |
van den Bosch syndrome | http://purl.obolibrary.org/obo/MONDO_0010754 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Schimke type | http://purl.obolibrary.org/obo/MONDO_0010729 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Rett syndrome | http://purl.obolibrary.org/obo/MONDO_0010726 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - dysmorphism - cerebral atrophy | http://www.orpha.net/ORDO/Orphanet_2958 | http://purl.obolibrary.org/obo/MONDO_0020119 |
early-onset parkinsonism-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0010709 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability with isolated growth hormone deficiency | http://purl.obolibrary.org/obo/MONDO_0019032 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Martinez type | http://www.orpha.net/ORDO/Orphanet_775 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Orofaciodigital syndrome type 1 | http://www.orpha.net/ORDO/Orphanet_2750 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability-ataxia-apraxia syndrome | http://purl.obolibrary.org/obo/MONDO_0019430 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Seemanova type | http://purl.obolibrary.org/obo/MONDO_0019421 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability-acromegaly-hyperactivity syndrome | http://purl.obolibrary.org/obo/MONDO_0019424 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked neurodegenerative syndrome, Hamel type | http://purl.obolibrary.org/obo/MONDO_0019429 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked neurodegenerative syndrome, Bertini type | http://purl.obolibrary.org/obo/MONDO_0019427 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Paraplegia - intellectual disability - hyperkeratosis | http://www.orpha.net/ORDO/Orphanet_2824 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability-precocious puberty-obesity syndrome | http://purl.obolibrary.org/obo/MONDO_0019417 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability-macrocephaly-macroorchidism syndrome | http://purl.obolibrary.org/obo/MONDO_0019419 | http://purl.obolibrary.org/obo/MONDO_0020119 |
W syndrome | http://www.orpha.net/ORDO/Orphanet_2804 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction | http://www.orpha.net/ORDO/Orphanet_83648 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Trigonocephaly - short stature - developmental delay | http://www.orpha.net/ORDO/Orphanet_3369 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Van den Bosch syndrome | http://www.orpha.net/ORDO/Orphanet_3417 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Intellectual disability-developmental delay-contractures syndrome | http://www.orpha.net/ORDO/Orphanet_3454 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Spasticity - intellectual disability - X-linked epilepsy | http://www.orpha.net/ORDO/Orphanet_3175 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Shrimpton type | http://www.orpha.net/ORDO/Orphanet_85324 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - macrocephaly - macroorchidism | http://www.orpha.net/ORDO/Orphanet_85320 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Deafness - intellectual disability, Martin-Probst type | http://www.orpha.net/ORDO/Orphanet_85321 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Turner type | http://www.orpha.net/ORDO/Orphanet_85328 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - acromegaly - hyperactivity | http://www.orpha.net/ORDO/Orphanet_85327 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Fried syndrome | http://www.orpha.net/ORDO/Orphanet_85335 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - hypogonadism - ichthyosis - obesity - short stature | http://www.orpha.net/ORDO/Orphanet_85331 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis | http://www.orpha.net/ORDO/Orphanet_85330 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Zorick type | http://www.orpha.net/ORDO/Orphanet_85337 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - ataxia - apraxia | http://www.orpha.net/ORDO/Orphanet_85338 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism | http://www.orpha.net/ORDO/Orphanet_85319 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration | http://www.orpha.net/ORDO/Orphanet_85317 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures | http://www.orpha.net/ORDO/Orphanet_1568 | http://www.orpha.net/ORDO/Orphanet_85317 |
X-linked intellectual disability - precocious puberty - obesity | http://www.orpha.net/ORDO/Orphanet_85318 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Nascimento type | http://www.orpha.net/ORDO/Orphanet_163956 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Najm type | http://www.orpha.net/ORDO/Orphanet_163937 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - cubitus valgus - dysmorphism | http://www.orpha.net/ORDO/Orphanet_85280 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - spastic quadriparesis | http://www.orpha.net/ORDO/Orphanet_163982 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Vitale type | http://www.orpha.net/ORDO/Orphanet_85289 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Siderius type | http://www.orpha.net/ORDO/Orphanet_85287 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Stocco Dos Santos type | http://www.orpha.net/ORDO/Orphanet_85288 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Shashi type | http://www.orpha.net/ORDO/Orphanet_85286 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Developmental delay - deafness, Hildebrand type | http://www.orpha.net/ORDO/Orphanet_163988 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked epilepsy - learning disabilities - behavior disorders | http://www.orpha.net/ORDO/Orphanet_85294 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Wilson type | http://www.orpha.net/ORDO/Orphanet_85290 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Wittwer type | http://www.orpha.net/ORDO/Orphanet_85291 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - craniofacioskeletal syndrome | http://www.orpha.net/ORDO/Orphanet_163979 | http://purl.obolibrary.org/obo/MONDO_0020119 |
HSD10 mitochondrial disease | http://purl.obolibrary.org/obo/MONDO_0010327 | http://purl.obolibrary.org/obo/MONDO_0020119 |
HSD10 disease, infantile type | http://purl.obolibrary.org/obo/MONDO_0018322 | http://purl.obolibrary.org/obo/MONDO_0010327 |
HSD10 disease, neonatal type | http://purl.obolibrary.org/obo/MONDO_0018323 | http://purl.obolibrary.org/obo/MONDO_0010327 |
X-linked intellectual disability, Stocco dos Santos type | http://purl.obolibrary.org/obo/MONDO_0010325 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Lethal ataxia with deafness and optic atrophy | http://www.orpha.net/ORDO/Orphanet_1187 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Rolandic epilepsy - speech dyspraxia | http://www.orpha.net/ORDO/Orphanet_163721 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability-psychosis-macroorchidism syndrome | http://purl.obolibrary.org/obo/MONDO_0010235 | http://purl.obolibrary.org/obo/MONDO_0020119 |
syndromic X-linked intellectual disability Raymond type | http://purl.obolibrary.org/obo/MONDO_0010427 | http://purl.obolibrary.org/obo/MONDO_0020119 |
syndromic X-linked intellectual disability Shrimpton type | http://purl.obolibrary.org/obo/MONDO_0010409 | http://purl.obolibrary.org/obo/MONDO_0020119 |
intellectual disability, X-linked syndromic, Turner type | http://purl.obolibrary.org/obo/MONDO_0010407 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability-craniofacioskeletal syndrome | http://purl.obolibrary.org/obo/MONDO_0010412 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked epilepsy-learning disabilities-behavior disorders syndrome | http://purl.obolibrary.org/obo/MONDO_0010339 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked progressive cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0010547 | http://purl.obolibrary.org/obo/MONDO_0020119 |
bullous dystrophy, macular type | http://purl.obolibrary.org/obo/MONDO_0010540 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked spinocerebellar ataxia type 3 | http://purl.obolibrary.org/obo/MONDO_0010529 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked spinocerebellar ataxia type 4 | http://purl.obolibrary.org/obo/MONDO_0010534 | http://purl.obolibrary.org/obo/MONDO_0020119 |
HSD10 disease | http://www.orpha.net/ORDO/Orphanet_391417 | http://purl.obolibrary.org/obo/MONDO_0020119 |
HSD10 disease, atypical type | http://www.orpha.net/ORDO/Orphanet_85295 | http://www.orpha.net/ORDO/Orphanet_391417 |
X-linked intellectual disability, Cantagrel type | http://purl.obolibrary.org/obo/MONDO_0010483 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | http://purl.obolibrary.org/obo/MONDO_0010473 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked dominant chondrodysplasia, Chassaing-Lacombe type | http://purl.obolibrary.org/obo/MONDO_0010463 | http://purl.obolibrary.org/obo/MONDO_0020119 |
syndromic X-linked intellectual disability Nascimento type | http://purl.obolibrary.org/obo/MONDO_0010461 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked centronuclear myopathy | http://purl.obolibrary.org/obo/MONDO_0010683 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Prieto syndrome | http://purl.obolibrary.org/obo/MONDO_0010667 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability-spastic quadriparesis syndrome | http://purl.obolibrary.org/obo/MONDO_0010670 | http://purl.obolibrary.org/obo/MONDO_0020119 |
syndromic X-linked intellectual disability 12 | http://purl.obolibrary.org/obo/MONDO_0010658 | http://purl.obolibrary.org/obo/MONDO_0020119 |
FRAXE intellectual disability | http://purl.obolibrary.org/obo/MONDO_0010659 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Bullous dystrophy, macular type | http://www.orpha.net/ORDO/Orphanet_1867 | http://purl.obolibrary.org/obo/MONDO_0020119 |
fg syndrome | http://www.ebi.ac.uk/efo/EFO_0009297 | http://purl.obolibrary.org/obo/MONDO_0020119 |
FG syndrome 4 | http://purl.obolibrary.org/obo/MONDO_0010318 | http://www.ebi.ac.uk/efo/EFO_0009297 |
severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome | http://purl.obolibrary.org/obo/MONDO_0018347 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Skeletal dysplasia - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1436 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Craniofrontonasal dysplasia | http://www.orpha.net/ORDO/Orphanet_1520 | http://purl.obolibrary.org/obo/MONDO_0020119 |
digital anomalies-intellectual disability-short stature syndrome | http://purl.obolibrary.org/obo/MONDO_0018122 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Cerebellum agenesis - hydrocephaly | http://www.orpha.net/ORDO/Orphanet_1397 | http://purl.obolibrary.org/obo/MONDO_0020119 |
cask-related c-linked intellectual disability | http://www.ebi.ac.uk/efo/EFO_0010954 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - cardiomegaly - congestive heart failure | http://www.orpha.net/ORDO/Orphanet_324410 | http://purl.obolibrary.org/obo/MONDO_0020119 |
ATP6AP2-related disorder | http://purl.obolibrary.org/obo/MONDO_0100146 | http://purl.obolibrary.org/obo/MONDO_0020119 |
syndromic X-linked intellectual disability Hedera type | http://purl.obolibrary.org/obo/MONDO_0010319 | http://purl.obolibrary.org/obo/MONDO_0100146 |
X-linked parkinsonism-spasticity syndrome | http://purl.obolibrary.org/obo/MONDO_0010482 | http://purl.obolibrary.org/obo/MONDO_0100146 |
NAA10-related syndrome | http://purl.obolibrary.org/obo/MONDO_0100124 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome | http://www.orpha.net/ORDO/Orphanet_397933 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability with hypopituitarism | http://purl.obolibrary.org/obo/MONDO_0100195 | http://purl.obolibrary.org/obo/MONDO_0020119 |
CDKL5 disorder | http://purl.obolibrary.org/obo/MONDO_0100039 | http://purl.obolibrary.org/obo/MONDO_0020119 |
MED12-related intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0100000 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability-epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0016160 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked dominant intellectual disability-epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0019770 | http://purl.obolibrary.org/obo/MONDO_0016160 |
intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | http://purl.obolibrary.org/obo/MONDO_0026733 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Basilicata-Akhtar syndrome | http://purl.obolibrary.org/obo/MONDO_0026730 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Raynaud type | http://www.orpha.net/ORDO/Orphanet_3061 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Gu type | http://www.orpha.net/ORDO/Orphanet_3059 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Syndromic X-linked intellectual disability 7 | http://www.orpha.net/ORDO/Orphanet_85274 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Syndromic X-linked intellectual disability due to JARID1C mutation | http://www.orpha.net/ORDO/Orphanet_85279 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - seizures - psoriasis | http://www.orpha.net/ORDO/Orphanet_3052 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Abidi type | http://www.orpha.net/ORDO/Orphanet_85273 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Wittner type | http://www.orpha.net/ORDO/Orphanet_3064 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability, Snyder type | http://www.orpha.net/ORDO/Orphanet_3063 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability - psychosis - macroorchidism | http://www.orpha.net/ORDO/Orphanet_3077 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Atypical Rett syndrome | http://www.orpha.net/ORDO/Orphanet_3095 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Digital anomalies - intellectual disability - short stature | http://www.orpha.net/ORDO/Orphanet_352487 | http://purl.obolibrary.org/obo/MONDO_0020119 |
hydrocephaly-cerebellar agenesis syndrome | http://purl.obolibrary.org/obo/MONDO_0010612 | http://purl.obolibrary.org/obo/MONDO_0020119 |
laryngeal abductor paralysis-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0010639 | http://purl.obolibrary.org/obo/MONDO_0020119 |
keratosis follicularis-dwarfism-cerebral atrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0010638 | http://purl.obolibrary.org/obo/MONDO_0020119 |
X-linked intellectual disability-seizures-psoriasis syndrome | http://purl.obolibrary.org/obo/MONDO_0010652 | http://purl.obolibrary.org/obo/MONDO_0020119 |
Partington syndrome | http://purl.obolibrary.org/obo/MONDO_0010654 | http://purl.obolibrary.org/obo/MONDO_0020119 |
syndromic X-linked intellectual disability Snyder type | http://purl.obolibrary.org/obo/MONDO_0010664 | http://purl.obolibrary.org/obo/MONDO_0020119 |
ossification anomalies-psychomotor developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0019131 | http://purl.obolibrary.org/obo/MONDO_0000508 |
global developmental delay-osteopenia-ectodermal defect syndrome | http://purl.obolibrary.org/obo/MONDO_0019129 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual disability-cataracts-calcified pinnae-myopathy syndrome | http://purl.obolibrary.org/obo/MONDO_0009798 | http://purl.obolibrary.org/obo/MONDO_0000508 |
Angelman syndrome | http://purl.obolibrary.org/obo/MONDO_0007113 | http://purl.obolibrary.org/obo/MONDO_0000508 |
alopecia-epilepsy-pyorrhea-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0007085 | http://purl.obolibrary.org/obo/MONDO_0000508 |
pachygyria-intellectual disability-epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0010840 | http://purl.obolibrary.org/obo/MONDO_0000508 |
Qazi Markouizos syndrome | http://purl.obolibrary.org/obo/MONDO_0010816 | http://purl.obolibrary.org/obo/MONDO_0000508 |
osteopenia-intellectual disability-sparse hair syndrome | http://purl.obolibrary.org/obo/MONDO_0009814 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual developmental disorder with neuropsychiatric features | http://purl.obolibrary.org/obo/MONDO_0044322 | http://purl.obolibrary.org/obo/MONDO_0000508 |
developmental delay and seizures with or without movement abnormalities | http://purl.obolibrary.org/obo/MONDO_0044326 | http://purl.obolibrary.org/obo/MONDO_0000508 |
Al Kaissi syndrome | http://purl.obolibrary.org/obo/MONDO_0044324 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | http://purl.obolibrary.org/obo/MONDO_0044318 | http://purl.obolibrary.org/obo/MONDO_0000508 |
GMS syndrome | http://purl.obolibrary.org/obo/MONDO_0007679 | http://purl.obolibrary.org/obo/MONDO_0000508 |
neurodevelopmental disorder with midbrain and hindbrain malformations | http://purl.obolibrary.org/obo/MONDO_0056797 | http://purl.obolibrary.org/obo/MONDO_0000508 |
3-methylglutaconic aciduria type 9 | http://purl.obolibrary.org/obo/MONDO_0044724 | http://purl.obolibrary.org/obo/MONDO_0000508 |
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | http://purl.obolibrary.org/obo/MONDO_0017232 | http://purl.obolibrary.org/obo/MONDO_0000508 |
polyhydramnios, megalencephaly, and symptomatic epilepsy | http://purl.obolibrary.org/obo/MONDO_0012611 | http://purl.obolibrary.org/obo/MONDO_0000508 |
PSAT deficiency | http://purl.obolibrary.org/obo/MONDO_0012596 | http://purl.obolibrary.org/obo/MONDO_0000508 |
Birk-Barel syndrome | http://purl.obolibrary.org/obo/MONDO_0012856 | http://purl.obolibrary.org/obo/MONDO_0000508 |
Grubben-de Cock-Borghgraef syndrome | http://purl.obolibrary.org/obo/MONDO_0009313 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual disability-myopathy-short stature-endocrine defect syndrome | http://purl.obolibrary.org/obo/MONDO_0009671 | http://purl.obolibrary.org/obo/MONDO_0000508 |
Galloway-Mowat syndrome | http://purl.obolibrary.org/obo/MONDO_0009627 | http://purl.obolibrary.org/obo/MONDO_0000508 |
Galloway-Mowat syndrome 2, X-linked | http://purl.obolibrary.org/obo/MONDO_0033006 | http://purl.obolibrary.org/obo/MONDO_0009627 |
developmental delay with autism spectrum disorder and gait instability | http://purl.obolibrary.org/obo/MONDO_0014224 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual disability-hypotonia-spasticity-sleep disorder syndrome | http://purl.obolibrary.org/obo/MONDO_0014210 | http://purl.obolibrary.org/obo/MONDO_0000508 |
shoulder and girdle defects-familial intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0016821 | http://purl.obolibrary.org/obo/MONDO_0000508 |
infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | http://purl.obolibrary.org/obo/MONDO_0016981 | http://purl.obolibrary.org/obo/MONDO_0000508 |
hypomyelinating leukodystrophy 9 | http://purl.obolibrary.org/obo/MONDO_0014506 | http://purl.obolibrary.org/obo/MONDO_0000508 |
polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0000087 | http://purl.obolibrary.org/obo/MONDO_0000508 |
unilateral polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0017092 | http://purl.obolibrary.org/obo/MONDO_0000087 |
unilateral hemispheric polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0015099 | http://purl.obolibrary.org/obo/MONDO_0017092 |
unilateral focal polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0017093 | http://purl.obolibrary.org/obo/MONDO_0017092 |
bilateral polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0017091 | http://purl.obolibrary.org/obo/MONDO_0000087 |
bilateral frontoparietal polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0011738 | http://purl.obolibrary.org/obo/MONDO_0017091 |
bilateral perisylvian polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0020340 | http://purl.obolibrary.org/obo/MONDO_0017091 |
bilateral parasagittal parieto-occipital polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0012986 | http://purl.obolibrary.org/obo/MONDO_0017091 |
bilateral frontal polymicrogyria | http://purl.obolibrary.org/obo/MONDO_0016162 | http://purl.obolibrary.org/obo/MONDO_0017091 |
hereditary cryohydrocytosis with reduced stomatin | http://purl.obolibrary.org/obo/MONDO_0012143 | http://purl.obolibrary.org/obo/MONDO_0000508 |
seizures-scoliosis-macrocephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0014731 | http://purl.obolibrary.org/obo/MONDO_0000508 |
hypomyelinating leukodystrophy 12 | http://purl.obolibrary.org/obo/MONDO_0014732 | http://purl.obolibrary.org/obo/MONDO_0000508 |
spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0014725 | http://purl.obolibrary.org/obo/MONDO_0000508 |
nodular neuronal heterotopia | http://purl.obolibrary.org/obo/MONDO_0016292 | http://purl.obolibrary.org/obo/MONDO_0000508 |
sub-cortical nodular heterotopia | http://purl.obolibrary.org/obo/MONDO_0015093 | http://purl.obolibrary.org/obo/MONDO_0016292 |
subependymal nodular heterotopia | http://purl.obolibrary.org/obo/MONDO_0015094 | http://purl.obolibrary.org/obo/MONDO_0016292 |
periventricular nodular heterotopia | http://purl.obolibrary.org/obo/MONDO_0020341 | http://purl.obolibrary.org/obo/MONDO_0016292 |
periventricular nodular heterotopia 9 | http://purl.obolibrary.org/obo/MONDO_0030061 | http://purl.obolibrary.org/obo/MONDO_0020341 |
heterotopia, periventricular, X-linked dominant | http://purl.obolibrary.org/obo/MONDO_0010233 | http://purl.obolibrary.org/obo/MONDO_0020341 |
microlissencephaly-micromelia syndrome | http://purl.obolibrary.org/obo/MONDO_0018860 | http://purl.obolibrary.org/obo/MONDO_0000508 |
recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0018820 | http://purl.obolibrary.org/obo/MONDO_0000508 |
FOXG1 disorder | http://purl.obolibrary.org/obo/MONDO_0100040 | http://purl.obolibrary.org/obo/MONDO_0000508 |
SATB2 associated disorder | http://purl.obolibrary.org/obo/MONDO_0100147 | http://purl.obolibrary.org/obo/MONDO_0000508 |
hypotrichosis-intellectual disability, Lopes type | http://purl.obolibrary.org/obo/MONDO_0016414 | http://purl.obolibrary.org/obo/MONDO_0000508 |
NGLY1-deficiency | http://purl.obolibrary.org/obo/MONDO_0014109 | http://purl.obolibrary.org/obo/MONDO_0000508 |
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | http://www.ebi.ac.uk/efo/EFO_0009300 | http://purl.obolibrary.org/obo/MONDO_0000508 |
autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0018446 | http://purl.obolibrary.org/obo/MONDO_0000508 |
autosomal recessive spinocerebellar ataxia 12 | http://purl.obolibrary.org/obo/MONDO_0013687 | http://purl.obolibrary.org/obo/MONDO_0018446 |
autosomal recessive spinocerebellar ataxia 15 | http://purl.obolibrary.org/obo/MONDO_0014311 | http://purl.obolibrary.org/obo/MONDO_0018446 |
autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency | http://purl.obolibrary.org/obo/MONDO_0014846 | http://purl.obolibrary.org/obo/MONDO_0018446 |
intellectual developmental disorder, autosomal recessive 71 | http://www.ebi.ac.uk/efo/EFO_0010280 | http://purl.obolibrary.org/obo/MONDO_0000508 |
intellectual disability-hyperkinetic movement-truncal ataxia syndrome | http://purl.obolibrary.org/obo/MONDO_0018243 | http://purl.obolibrary.org/obo/MONDO_0000508 |
autosomal recessive limb-girdle muscular dystrophy type R18 | http://purl.obolibrary.org/obo/MONDO_0014144 | http://purl.obolibrary.org/obo/MONDO_0018243 |
West syndrome | http://purl.obolibrary.org/obo/MONDO_0018097 | http://purl.obolibrary.org/obo/MONDO_0000508 |
alopecia - intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0008756 | http://purl.obolibrary.org/obo/MONDO_0000508 |
Moynahan syndrome | http://purl.obolibrary.org/obo/MONDO_0008755 | http://purl.obolibrary.org/obo/MONDO_0000508 |
primary non-essential cutis verticis gyrata | http://purl.obolibrary.org/obo/MONDO_0018168 | http://purl.obolibrary.org/obo/MONDO_0000508 |
Gilbert syndrome | http://www.ebi.ac.uk/efo/EFO_0005556 | http://purl.obolibrary.org/obo/MONDO_0002254 |
XFE progeroid syndrome | http://purl.obolibrary.org/obo/MONDO_0012590 | http://purl.obolibrary.org/obo/MONDO_0002254 |
acute coronary syndrome | http://www.ebi.ac.uk/efo/EFO_0005672 | http://purl.obolibrary.org/obo/MONDO_0002254 |
fibromyalgia | http://www.ebi.ac.uk/efo/EFO_0005687 | http://purl.obolibrary.org/obo/MONDO_0002254 |
familial infantile bilateral striatal necrosis | http://purl.obolibrary.org/obo/MONDO_0010080 | http://purl.obolibrary.org/obo/MONDO_0002254 |
nephrogenic diabetes insipidus-intracranial calcification syndrome | http://purl.obolibrary.org/obo/MONDO_0009099 | http://purl.obolibrary.org/obo/MONDO_0002254 |
cystinuria | http://purl.obolibrary.org/obo/MONDO_0009067 | http://purl.obolibrary.org/obo/MONDO_0002254 |
cystinuria type A | http://purl.obolibrary.org/obo/MONDO_0019745 | http://purl.obolibrary.org/obo/MONDO_0009067 |
cystinuria type B | http://purl.obolibrary.org/obo/MONDO_0019746 | http://purl.obolibrary.org/obo/MONDO_0009067 |
Crigler-Najjar syndrome | http://purl.obolibrary.org/obo/MONDO_0009044 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Crigler-Najjar syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0011725 | http://purl.obolibrary.org/obo/MONDO_0009044 |
Crigler-Najjar syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0021020 | http://purl.obolibrary.org/obo/MONDO_0009044 |
woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome | http://purl.obolibrary.org/obo/MONDO_0010207 | http://purl.obolibrary.org/obo/MONDO_0002254 |
eyebrow duplication-syndactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0009200 | http://purl.obolibrary.org/obo/MONDO_0002254 |
abdominal obesity-metabolic syndrome | http://purl.obolibrary.org/obo/MONDO_0000816 | http://purl.obolibrary.org/obo/MONDO_0002254 |
epidermolysis bullosa simplex 5B, with muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0009181 | http://purl.obolibrary.org/obo/MONDO_0002254 |
cerebellar ataxia, intellectual disability, and dysequilibrium | http://purl.obolibrary.org/obo/MONDO_0009133 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Lesch-Nyhan syndrome | http://purl.obolibrary.org/obo/MONDO_0010298 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Bernard-Soulier syndrome | http://purl.obolibrary.org/obo/MONDO_0009276 | http://purl.obolibrary.org/obo/MONDO_0002254 |
syndromic congenital sodium diarrhea | http://purl.obolibrary.org/obo/MONDO_0034204 | http://purl.obolibrary.org/obo/MONDO_0002254 |
de Sanctis-Cacchione syndrome | http://purl.obolibrary.org/obo/MONDO_0010217 | http://purl.obolibrary.org/obo/MONDO_0002254 |
fragile X-associated tremor/ataxia syndrome | http://purl.obolibrary.org/obo/MONDO_0010382 | http://purl.obolibrary.org/obo/MONDO_0002254 |
ornithine translocase deficiency | http://purl.obolibrary.org/obo/MONDO_0009393 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Dubin-Johnson syndrome | http://purl.obolibrary.org/obo/MONDO_0009380 | http://purl.obolibrary.org/obo/MONDO_0002254 |
thoracic outlet syndrome | http://www.ebi.ac.uk/efo/EFO_0007507 | http://purl.obolibrary.org/obo/MONDO_0002254 |
cervical rib syndrome | http://www.ebi.ac.uk/efo/EFO_1000861 | http://www.ebi.ac.uk/efo/EFO_0007507 |
Behcet's syndrome | http://www.ebi.ac.uk/efo/EFO_0003780 | http://purl.obolibrary.org/obo/MONDO_0002254 |
familial episodic pain syndrome with predominantly lower limb involvement | http://purl.obolibrary.org/obo/MONDO_0014247 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Mikati-Najjar-Sahli syndrome | http://purl.obolibrary.org/obo/MONDO_0016818 | http://purl.obolibrary.org/obo/MONDO_0002254 |
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0014335 | http://purl.obolibrary.org/obo/MONDO_0002254 |
chronic atrial and intestinal dysrhythmia | http://purl.obolibrary.org/obo/MONDO_0014528 | http://purl.obolibrary.org/obo/MONDO_0002254 |
neonatal aspiration syndrome | http://purl.obolibrary.org/obo/MONDO_0024263 | http://purl.obolibrary.org/obo/MONDO_0002254 |
meconium aspiration syndrome | http://www.ebi.ac.uk/efo/EFO_1001037 | http://purl.obolibrary.org/obo/MONDO_0024263 |
MIRAGE syndrome | http://purl.obolibrary.org/obo/MONDO_0014888 | http://purl.obolibrary.org/obo/MONDO_0002254 |
substance withdrawal syndrome | http://www.ebi.ac.uk/efo/EFO_0005800 | http://purl.obolibrary.org/obo/MONDO_0002254 |
alcohol withdrawal | http://www.ebi.ac.uk/efo/EFO_0004777 | http://www.ebi.ac.uk/efo/EFO_0005800 |
alcohol withdrawal delirium | http://www.ebi.ac.uk/efo/EFO_1000800 | http://www.ebi.ac.uk/efo/EFO_0004777 |
neonatal abstinence syndrome | http://www.ebi.ac.uk/efo/EFO_0005799 | http://www.ebi.ac.uk/efo/EFO_0005800 |
dicer1 syndrome | http://www.ebi.ac.uk/efo/EFO_0009068 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Evans syndrome | http://purl.obolibrary.org/obo/MONDO_0016030 | http://purl.obolibrary.org/obo/MONDO_0002254 |
myoclonic-astastic epilepsy | http://purl.obolibrary.org/obo/MONDO_0016025 | http://purl.obolibrary.org/obo/MONDO_0002254 |
compartment syndrome | http://purl.obolibrary.org/obo/MONDO_0004001 | http://purl.obolibrary.org/obo/MONDO_0002254 |
anterior compartment syndrome | http://www.ebi.ac.uk/efo/EFO_1000808 | http://purl.obolibrary.org/obo/MONDO_0004001 |
myotonic syndrome | http://purl.obolibrary.org/obo/MONDO_0016120 | http://purl.obolibrary.org/obo/MONDO_0002254 |
paramyotonia congenita of Von Eulenburg | http://purl.obolibrary.org/obo/MONDO_0008195 | http://purl.obolibrary.org/obo/MONDO_0016120 |
congenital myotonia | http://purl.obolibrary.org/obo/MONDO_0016121 | http://purl.obolibrary.org/obo/MONDO_0016120 |
Thomsen and Becker disease | http://purl.obolibrary.org/obo/MONDO_0009710 | http://purl.obolibrary.org/obo/MONDO_0016121 |
myotonic dystrophy | http://purl.obolibrary.org/obo/MONDO_0016107 | http://purl.obolibrary.org/obo/MONDO_0016120 |
potassium-aggravated myotonia | http://purl.obolibrary.org/obo/MONDO_0018959 | http://purl.obolibrary.org/obo/MONDO_0016120 |
myotonia permanens | http://purl.obolibrary.org/obo/MONDO_0020482 | http://purl.obolibrary.org/obo/MONDO_0018959 |
acetazolamide-responsive myotonia | http://purl.obolibrary.org/obo/MONDO_0020483 | http://purl.obolibrary.org/obo/MONDO_0018959 |
myotonia fluctuans | http://purl.obolibrary.org/obo/MONDO_0020481 | http://purl.obolibrary.org/obo/MONDO_0018959 |
cardioectodermal syndrome | http://purl.obolibrary.org/obo/MONDO_0100080 | http://purl.obolibrary.org/obo/MONDO_0002254 |
atypical hemolytic-uremic syndrome | http://purl.obolibrary.org/obo/MONDO_0016244 | http://purl.obolibrary.org/obo/MONDO_0002254 |
atypical hemolytic uremic syndrome with complement gene abnormality | http://purl.obolibrary.org/obo/MONDO_0035290 | http://purl.obolibrary.org/obo/MONDO_0016244 |
atypical hemolytic-uremic syndrome with C3 anomaly | http://purl.obolibrary.org/obo/MONDO_0013043 | http://purl.obolibrary.org/obo/MONDO_0035290 |
atypical hemolytic-uremic syndrome with B factor anomaly | http://purl.obolibrary.org/obo/MONDO_0013042 | http://purl.obolibrary.org/obo/MONDO_0035290 |
atypical hemolytic-uremic syndrome with thrombomodulin anomaly | http://purl.obolibrary.org/obo/MONDO_0013044 | http://purl.obolibrary.org/obo/MONDO_0035290 |
atypical hemolytic-uremic syndrome with I factor anomaly | http://purl.obolibrary.org/obo/MONDO_0013041 | http://purl.obolibrary.org/obo/MONDO_0035290 |
atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | http://purl.obolibrary.org/obo/MONDO_0013040 | http://purl.obolibrary.org/obo/MONDO_0035290 |
atypical hemolytic-uremic syndrome with H factor anomaly | http://purl.obolibrary.org/obo/MONDO_0019738 | http://purl.obolibrary.org/obo/MONDO_0016244 |
atypical hemolytic-uremic syndrome with anti-factor H antibodies | http://purl.obolibrary.org/obo/MONDO_0019739 | http://purl.obolibrary.org/obo/MONDO_0016244 |
complement factor H deficiency | http://purl.obolibrary.org/obo/MONDO_0012350 | http://purl.obolibrary.org/obo/MONDO_0016244 |
immunodeficiency with factor H anomaly | http://purl.obolibrary.org/obo/MONDO_0016061 | http://purl.obolibrary.org/obo/MONDO_0012350 |
atypical hemolytic-uremic syndrome with DGKE deficiency | http://purl.obolibrary.org/obo/MONDO_0018159 | http://purl.obolibrary.org/obo/MONDO_0016244 |
irritable bowel syndrome | http://www.ebi.ac.uk/efo/EFO_0000555 | http://purl.obolibrary.org/obo/MONDO_0002254 |
syndromic agammaglobulinemia | http://purl.obolibrary.org/obo/MONDO_0016463 | http://purl.obolibrary.org/obo/MONDO_0002254 |
common variable immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0015517 | http://purl.obolibrary.org/obo/MONDO_0016463 |
immunodeficiency, common variable, 7 | http://purl.obolibrary.org/obo/MONDO_0013862 | http://purl.obolibrary.org/obo/MONDO_0015517 |
immunodeficiency, common variable, 4 | http://purl.obolibrary.org/obo/MONDO_0013284 | http://purl.obolibrary.org/obo/MONDO_0015517 |
immunodeficiency, common variable, 6 | http://purl.obolibrary.org/obo/MONDO_0013286 | http://purl.obolibrary.org/obo/MONDO_0015517 |
immunodeficiency, common variable, 14 | http://purl.obolibrary.org/obo/MONDO_0054691 | http://purl.obolibrary.org/obo/MONDO_0015517 |
immunodeficiency, common variable, 2 | http://purl.obolibrary.org/obo/MONDO_0009413 | http://purl.obolibrary.org/obo/MONDO_0015517 |
immunodeficiency, common variable, 10 | http://purl.obolibrary.org/obo/MONDO_0014260 | http://purl.obolibrary.org/obo/MONDO_0015517 |
pancytopenia due to IKZF1 mutations | http://purl.obolibrary.org/obo/MONDO_0014810 | http://purl.obolibrary.org/obo/MONDO_0015517 |
transient hypogammaglobulinemia | http://purl.obolibrary.org/obo/MONDO_0003827 | http://purl.obolibrary.org/obo/MONDO_0016463 |
transient hypogammaglobulinemia of infancy | http://purl.obolibrary.org/obo/MONDO_0015698 | http://purl.obolibrary.org/obo/MONDO_0003827 |
Roberts-SC phocomelia syndrome | http://purl.obolibrary.org/obo/MONDO_0100253 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Roberts syndrome | http://purl.obolibrary.org/obo/MONDO_0009997 | http://purl.obolibrary.org/obo/MONDO_0100253 |
primary ciliary dyskinesia | http://purl.obolibrary.org/obo/MONDO_0016575 | http://purl.obolibrary.org/obo/MONDO_0002254 |
ciliary dyskinesia, primary, 44 | http://purl.obolibrary.org/obo/MONDO_0032914 | http://purl.obolibrary.org/obo/MONDO_0016575 |
ciliary dyskinesia, primary, 45 | http://purl.obolibrary.org/obo/MONDO_0032924 | http://purl.obolibrary.org/obo/MONDO_0016575 |
primary ciliary dyskinesia 5 | http://purl.obolibrary.org/obo/MONDO_0012088 | http://purl.obolibrary.org/obo/MONDO_0016575 |
Lennox-Gastaut syndrome | http://purl.obolibrary.org/obo/MONDO_0016532 | http://purl.obolibrary.org/obo/MONDO_0002254 |
primary hypertrophic osteoarthropathy | http://purl.obolibrary.org/obo/MONDO_0016620 | http://purl.obolibrary.org/obo/MONDO_0002254 |
cranio-osteoarthropathy | http://purl.obolibrary.org/obo/MONDO_0015466 | http://purl.obolibrary.org/obo/MONDO_0016620 |
hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | http://purl.obolibrary.org/obo/MONDO_0024546 | http://purl.obolibrary.org/obo/MONDO_0016620 |
microcephaly-brain defect-spasticity-hypernatremia syndrome | http://purl.obolibrary.org/obo/MONDO_0016758 | http://purl.obolibrary.org/obo/MONDO_0002254 |
central sleep apnea syndrome | http://purl.obolibrary.org/obo/MONDO_0004731 | http://purl.obolibrary.org/obo/MONDO_0002254 |
hantavirus pulmonary syndrome | http://www.ebi.ac.uk/efo/EFO_0007296 | http://purl.obolibrary.org/obo/MONDO_0002254 |
HELLP syndrome | http://www.ebi.ac.uk/efo/EFO_0007297 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Guillain-Barre syndrome | http://www.ebi.ac.uk/efo/EFO_0007292 | http://purl.obolibrary.org/obo/MONDO_0002254 |
variant of Guillain-Barre syndrome | http://purl.obolibrary.org/obo/MONDO_0016493 | http://www.ebi.ac.uk/efo/EFO_0007292 |
regional variant of Guillain-Barre syndrome | http://purl.obolibrary.org/obo/MONDO_0016494 | http://purl.obolibrary.org/obo/MONDO_0016493 |
Miller Fisher syndrome | http://www.ebi.ac.uk/efo/EFO_0007371 | http://purl.obolibrary.org/obo/MONDO_0016494 |
Lopes-Maciel-Rodan syndrome | http://www.ebi.ac.uk/efo/EFO_0009904 | http://purl.obolibrary.org/obo/MONDO_0002254 |
syndactyly-polydactyly-ear lobe syndrome | http://purl.obolibrary.org/obo/MONDO_0008517 | http://purl.obolibrary.org/obo/MONDO_0002254 |
multiple chemical sensitivity | http://www.ebi.ac.uk/efo/EFO_0007382 | http://purl.obolibrary.org/obo/MONDO_0002254 |
persian gulf syndrome | http://www.ebi.ac.uk/efo/EFO_0007430 | http://purl.obolibrary.org/obo/MONDO_0002254 |
post-infectious syndrome | http://purl.obolibrary.org/obo/MONDO_0021670 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Zika virus congenital syndrome | http://purl.obolibrary.org/obo/MONDO_0000890 | http://purl.obolibrary.org/obo/MONDO_0021670 |
neurodevelopmental disorder with macrocephaly and with or without seizures | http://www.ebi.ac.uk/efo/EFO_0010660 | http://purl.obolibrary.org/obo/MONDO_0002254 |
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | http://www.ebi.ac.uk/efo/EFO_0010662 | http://purl.obolibrary.org/obo/MONDO_0002254 |
carcinoid syndrome | http://www.ebi.ac.uk/efo/EFO_1000852 | http://purl.obolibrary.org/obo/MONDO_0002254 |
causalgia | http://www.ebi.ac.uk/efo/EFO_1000854 | http://purl.obolibrary.org/obo/MONDO_0002254 |
anterior spinal artery syndrome | http://www.ebi.ac.uk/efo/EFO_1000810 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Eisenmenger syndrome | http://www.ebi.ac.uk/efo/EFO_0009200 | http://purl.obolibrary.org/obo/MONDO_0002254 |
inflammatory bowel disease, immunodeficiency, and encephalopathy | http://www.ebi.ac.uk/efo/EFO_0010258 | http://purl.obolibrary.org/obo/MONDO_0002254 |
intellectual developmental disorder with macrocephaly, seizures, and speech delay | http://www.ebi.ac.uk/efo/EFO_0010259 | http://purl.obolibrary.org/obo/MONDO_0002254 |
global developmental delay, progressive ataxia, and elevated glutamine | http://www.ebi.ac.uk/efo/EFO_0010257 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Menke-Hennekam syndrome 1 | http://www.ebi.ac.uk/efo/EFO_0010252 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Menke-Hennekam syndrome 2 | http://www.ebi.ac.uk/efo/EFO_0010253 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Shukla-Vernon syndrome | http://www.ebi.ac.uk/efo/EFO_0010278 | http://purl.obolibrary.org/obo/MONDO_0002254 |
GIST-plus syndrome | http://www.ebi.ac.uk/efo/EFO_0010279 | http://purl.obolibrary.org/obo/MONDO_0002254 |
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements | http://www.ebi.ac.uk/efo/EFO_0010276 | http://purl.obolibrary.org/obo/MONDO_0002254 |
O'Donnell-Luria-Rodan syndrome | http://www.ebi.ac.uk/efo/EFO_0010277 | http://purl.obolibrary.org/obo/MONDO_0002254 |
brain abnormalities, neurodegeneration, and dysosteosclerosis | http://www.ebi.ac.uk/efo/EFO_0010268 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Paganini-Miozzo syndrome | http://www.ebi.ac.uk/efo/EFO_0010261 | http://purl.obolibrary.org/obo/MONDO_0002254 |
global developmental delay with or without impaired intellectual development | http://www.ebi.ac.uk/efo/EFO_0010260 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Achenbach syndrome | http://www.ebi.ac.uk/efo/EFO_1000661 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Siddiqi syndrome | http://www.ebi.ac.uk/efo/EFO_0010633 | http://purl.obolibrary.org/obo/MONDO_0002254 |
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | http://www.ebi.ac.uk/efo/EFO_0009646 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Cardiac-urogenital syndrome | http://www.ebi.ac.uk/efo/EFO_0010645 | http://purl.obolibrary.org/obo/MONDO_0002254 |
intellectual developmental disorder, autosomal recessive 72 | http://www.ebi.ac.uk/efo/EFO_0010654 | http://purl.obolibrary.org/obo/MONDO_0002254 |
intellectual developmental disorder with short stature and behavioral abnormalities | http://www.ebi.ac.uk/efo/EFO_0010652 | http://purl.obolibrary.org/obo/MONDO_0002254 |
intellectual developmental disorder with speech delay, autism and dysmorphic facies | http://www.ebi.ac.uk/efo/EFO_0010653 | http://purl.obolibrary.org/obo/MONDO_0002254 |
intellectual developmental disorder with impaired language and dysmorphic facies | http://www.ebi.ac.uk/efo/EFO_0010651 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Snijders Blok-Fisher syndrome | http://www.ebi.ac.uk/efo/EFO_0010634 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Weiss-Kruszka syndrome | http://www.ebi.ac.uk/efo/EFO_0010635 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Snijders Blok-Campeau syndrome | http://www.ebi.ac.uk/efo/EFO_0010643 | http://purl.obolibrary.org/obo/MONDO_0002254 |
miliaria | http://www.ebi.ac.uk/efo/EFO_1000734 | http://purl.obolibrary.org/obo/MONDO_0002254 |
miliaria rubra | http://www.ebi.ac.uk/efo/EFO_1000735 | http://www.ebi.ac.uk/efo/EFO_1000734 |
finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome | http://purl.obolibrary.org/obo/MONDO_0018249 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Churg-Strauss syndrome | http://www.ebi.ac.uk/efo/EFO_0007208 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Barre-Lieou syndrome | http://www.ebi.ac.uk/efo/EFO_0007165 | http://purl.obolibrary.org/obo/MONDO_0002254 |
Cauda equina syndrome | http://www.ebi.ac.uk/efo/EFO_0007196 | http://purl.obolibrary.org/obo/MONDO_0002254 |
epidermal nevus syndrome | http://purl.obolibrary.org/obo/MONDO_0018115 | http://purl.obolibrary.org/obo/MONDO_0002254 |
acute chest syndrome | http://www.ebi.ac.uk/efo/EFO_0007129 | http://purl.obolibrary.org/obo/MONDO_0002254 |
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | http://www.ebi.ac.uk/efo/EFO_0010658 | http://purl.obolibrary.org/obo/MONDO_0002254 |
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | http://www.ebi.ac.uk/efo/EFO_0010659 | http://purl.obolibrary.org/obo/MONDO_0002254 |
neurodevelopmental disorder with absent language and variable seizures | http://www.ebi.ac.uk/efo/EFO_0010657 | http://purl.obolibrary.org/obo/MONDO_0002254 |
short stature and microcephaly with genital anomalies | http://www.ebi.ac.uk/efo/EFO_0010665 | http://purl.obolibrary.org/obo/MONDO_0002254 |
neurooculocardiogenitourinary syndrome | http://www.ebi.ac.uk/efo/EFO_0010663 | http://purl.obolibrary.org/obo/MONDO_0002254 |
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures | http://www.ebi.ac.uk/efo/EFO_0010661 | http://purl.obolibrary.org/obo/MONDO_0002254 |
animal disease | http://www.ebi.ac.uk/efo/EFO_0005932 | http://www.ebi.ac.uk/efo/EFO_0000408 |
steatitis | http://www.ebi.ac.uk/efo/EFO_1001191 | http://www.ebi.ac.uk/efo/EFO_0005932 |
Enzootic Bovine Leukosis | http://www.ebi.ac.uk/efo/EFO_1001315 | http://www.ebi.ac.uk/efo/EFO_0005932 |
non-human primate disease | http://purl.obolibrary.org/obo/MONDO_0025013 | http://www.ebi.ac.uk/efo/EFO_0005932 |
monkey disease | http://purl.obolibrary.org/obo/MONDO_0025102 | http://purl.obolibrary.org/obo/MONDO_0025013 |
simian acquired immunodeficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0025484 | http://purl.obolibrary.org/obo/MONDO_0025102 |
Tuberculosis, Avian | http://www.ebi.ac.uk/efo/EFO_1001440 | http://www.ebi.ac.uk/efo/EFO_0005932 |
Tuberculosis, Bovine | http://www.ebi.ac.uk/efo/EFO_1001441 | http://www.ebi.ac.uk/efo/EFO_0005932 |
experimental arthritis | http://www.ebi.ac.uk/efo/EFO_1001787 | http://www.ebi.ac.uk/efo/EFO_0005932 |
Bovine mastitis | http://www.ebi.ac.uk/efo/EFO_1001765 | http://www.ebi.ac.uk/efo/EFO_0005932 |
parasitic disease, non-human animal | http://purl.obolibrary.org/obo/MONDO_0024969 | http://www.ebi.ac.uk/efo/EFO_0005932 |
helminthiasis, animal | http://purl.obolibrary.org/obo/MONDO_0025082 | http://purl.obolibrary.org/obo/MONDO_0024969 |
Dictyocaulus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007235 | http://purl.obolibrary.org/obo/MONDO_0025082 |
fish disease | http://purl.obolibrary.org/obo/MONDO_0024934 | http://www.ebi.ac.uk/efo/EFO_0005932 |
viral hemorrhagic septicemia | http://www.ebi.ac.uk/efo/EFO_0007539 | http://purl.obolibrary.org/obo/MONDO_0024934 |
cattle disease | http://purl.obolibrary.org/obo/MONDO_0024913 | http://www.ebi.ac.uk/efo/EFO_0005932 |
bovine respiratory disease complex | http://www.ebi.ac.uk/efo/EFO_0007180 | http://purl.obolibrary.org/obo/MONDO_0024913 |
postweaning multisystemic wasting syndrome | http://www.ebi.ac.uk/efo/EFO_1000048 | http://www.ebi.ac.uk/efo/EFO_0005932 |
visna | http://www.ebi.ac.uk/efo/EFO_0007542 | http://www.ebi.ac.uk/efo/EFO_0005932 |
AVL induced bursal lymphoma | http://www.ebi.ac.uk/efo/EFO_0005923 | http://www.ebi.ac.uk/efo/EFO_0005932 |
Drosophila C virus infection | http://www.ebi.ac.uk/efo/EFO_0000779 | http://www.ebi.ac.uk/efo/EFO_0005932 |
foot and mouth disease | http://www.ebi.ac.uk/efo/EFO_0007277 | http://www.ebi.ac.uk/efo/EFO_0005932 |
ephemeral fever | http://www.ebi.ac.uk/efo/EFO_0007258 | http://www.ebi.ac.uk/efo/EFO_0005932 |
equine infectious anemia | http://www.ebi.ac.uk/efo/EFO_0007263 | http://www.ebi.ac.uk/efo/EFO_0005932 |
louping ill | http://www.ebi.ac.uk/efo/EFO_0007348 | http://www.ebi.ac.uk/efo/EFO_0005932 |
infectious myxomatosis | http://www.ebi.ac.uk/efo/EFO_0007327 | http://www.ebi.ac.uk/efo/EFO_0005932 |
infectious ectromelia | http://www.ebi.ac.uk/efo/EFO_0007325 | http://www.ebi.ac.uk/efo/EFO_0005932 |
border disease | http://www.ebi.ac.uk/efo/EFO_0007177 | http://www.ebi.ac.uk/efo/EFO_0005932 |
bovine virus diarrhea-mucosal disease | http://www.ebi.ac.uk/efo/EFO_0007181 | http://www.ebi.ac.uk/efo/EFO_0005932 |
dourine | http://www.ebi.ac.uk/efo/EFO_0007240 | http://www.ebi.ac.uk/efo/EFO_0005932 |
enterotoxemia | http://www.ebi.ac.uk/efo/EFO_1000922 | http://www.ebi.ac.uk/efo/EFO_0005932 |
hematologic disease | http://www.ebi.ac.uk/efo/EFO_0005803 | http://www.ebi.ac.uk/efo/EFO_0000408 |
hematological toxicity | http://www.ebi.ac.uk/efo/EFO_0011051 | http://www.ebi.ac.uk/efo/EFO_0005803 |
bone marrow disorder | http://purl.obolibrary.org/obo/MONDO_0003225 | http://www.ebi.ac.uk/efo/EFO_0005803 |
myelofibrosis | http://purl.obolibrary.org/obo/MONDO_0044903 | http://purl.obolibrary.org/obo/MONDO_0003225 |
bone marrow failure syndrome | http://purl.obolibrary.org/obo/MONDO_0000159 | http://purl.obolibrary.org/obo/MONDO_0003225 |
bone marrow failure syndrome 6 | http://purl.obolibrary.org/obo/MONDO_0030015 | http://purl.obolibrary.org/obo/MONDO_0000159 |
osteomyelitis | http://www.ebi.ac.uk/efo/EFO_0003102 | http://purl.obolibrary.org/obo/MONDO_0003225 |
Osteomyelitis leading to amputation due to slow healing fractures | http://www.ebi.ac.uk/efo/EFO_0010165 | http://www.ebi.ac.uk/efo/EFO_0003102 |
polycythemia | http://www.ebi.ac.uk/efo/EFO_0005804 | http://purl.obolibrary.org/obo/MONDO_0003225 |
familial polycythemia | http://purl.obolibrary.org/obo/MONDO_0001115 | http://www.ebi.ac.uk/efo/EFO_0005804 |
Genetic polycythemia | http://www.orpha.net/ORDO/Orphanet_250165 | http://purl.obolibrary.org/obo/MONDO_0001115 |
Secondary polycythemia | http://www.orpha.net/ORDO/Orphanet_98428 | http://www.orpha.net/ORDO/Orphanet_250165 |
Congenital secondary polycythemia | http://www.orpha.net/ORDO/Orphanet_238536 | http://www.orpha.net/ORDO/Orphanet_98428 |
Autosomal dominant secondary polycythemia | http://www.orpha.net/ORDO/Orphanet_247511 | http://www.orpha.net/ORDO/Orphanet_238536 |
Autosomal recessive secondary polycythemia not associated with VHL gene | http://www.orpha.net/ORDO/Orphanet_247378 | http://www.orpha.net/ORDO/Orphanet_238536 |
Chuvash erythrocytosis | http://www.orpha.net/ORDO/Orphanet_238557 | http://www.orpha.net/ORDO/Orphanet_238536 |
erythrocytosis, familial, 6 | http://purl.obolibrary.org/obo/MONDO_0054801 | http://purl.obolibrary.org/obo/MONDO_0001115 |
Chuvash polycythemia | http://purl.obolibrary.org/obo/MONDO_0009892 | http://purl.obolibrary.org/obo/MONDO_0001115 |
primary familial polycythemia due to EPO receptor mutation | http://purl.obolibrary.org/obo/MONDO_0007572 | http://purl.obolibrary.org/obo/MONDO_0001115 |
autosomal dominant secondary polycythemia | http://purl.obolibrary.org/obo/MONDO_0016599 | http://purl.obolibrary.org/obo/MONDO_0001115 |
secondary polycythemia | http://purl.obolibrary.org/obo/MONDO_0020115 | http://www.ebi.ac.uk/efo/EFO_0005804 |
acquired secondary polycythemia | http://purl.obolibrary.org/obo/MONDO_0016541 | http://purl.obolibrary.org/obo/MONDO_0020115 |
polycythemia due to hypoxia | http://www.ebi.ac.uk/efo/EFO_0005805 | http://purl.obolibrary.org/obo/MONDO_0016541 |
congenital secondary polycythemia | http://purl.obolibrary.org/obo/MONDO_0016540 | http://purl.obolibrary.org/obo/MONDO_0020115 |
autosomal recessive secondary polycythemia not associated with VHL gene | http://purl.obolibrary.org/obo/MONDO_0016598 | http://purl.obolibrary.org/obo/MONDO_0016540 |
acquired polycythemia | http://purl.obolibrary.org/obo/MONDO_0002438 | http://www.ebi.ac.uk/efo/EFO_0005804 |
erythrocyte disorder | http://purl.obolibrary.org/obo/MONDO_0044347 | http://www.ebi.ac.uk/efo/EFO_0005803 |
hemoglobinopathy | http://purl.obolibrary.org/obo/MONDO_0044348 | http://purl.obolibrary.org/obo/MONDO_0044347 |
sulfhemoglobinemia | http://www.ebi.ac.uk/efo/EFO_1001200 | http://purl.obolibrary.org/obo/MONDO_0044348 |
methemoglobinemia | http://purl.obolibrary.org/obo/MONDO_0001117 | http://purl.obolibrary.org/obo/MONDO_0044348 |
drug-induced methemoglobinemia | http://purl.obolibrary.org/obo/MONDO_0018740 | http://purl.obolibrary.org/obo/MONDO_0001117 |
hereditary methemoglobinemia | http://purl.obolibrary.org/obo/MONDO_0018963 | http://purl.obolibrary.org/obo/MONDO_0001117 |
hemoglobin M disease | http://purl.obolibrary.org/obo/MONDO_0018023 | http://purl.obolibrary.org/obo/MONDO_0018963 |
inherited hemoglobinopathy | http://purl.obolibrary.org/obo/MONDO_0019050 | http://purl.obolibrary.org/obo/MONDO_0044348 |
hemoglobin D disease | http://purl.obolibrary.org/obo/MONDO_0019537 | http://purl.obolibrary.org/obo/MONDO_0019050 |
Thalassemia | http://www.ebi.ac.uk/efo/EFO_1001996 | http://purl.obolibrary.org/obo/MONDO_0019050 |
alpha thalassemia | http://purl.obolibrary.org/obo/MONDO_0011399 | http://www.ebi.ac.uk/efo/EFO_1001996 |
hemoglobin H disease | http://purl.obolibrary.org/obo/MONDO_0013512 | http://purl.obolibrary.org/obo/MONDO_0011399 |
Alpha-thalassemia and related diseases | http://www.orpha.net/ORDO/Orphanet_275745 | http://www.ebi.ac.uk/efo/EFO_1001996 |
Alpha-thalassemia | http://www.orpha.net/ORDO/Orphanet_846 | http://www.orpha.net/ORDO/Orphanet_275745 |
Hemoglobin H disease | http://www.orpha.net/ORDO/Orphanet_93616 | http://www.orpha.net/ORDO/Orphanet_846 |
Alpha-thalassemia-related diseases | http://www.orpha.net/ORDO/Orphanet_232288 | http://www.orpha.net/ORDO/Orphanet_275745 |
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16 | http://www.orpha.net/ORDO/Orphanet_98791 | http://www.orpha.net/ORDO/Orphanet_232288 |
Alpha-thalassemia - myelodysplastic syndrome | http://www.orpha.net/ORDO/Orphanet_231401 | http://www.orpha.net/ORDO/Orphanet_232288 |
Beta-thalassemia and related diseases | http://www.orpha.net/ORDO/Orphanet_275749 | http://www.ebi.ac.uk/efo/EFO_1001996 |
Beta-thalassemia associated with another hemoglobin anomaly | http://www.orpha.net/ORDO/Orphanet_231230 | http://www.orpha.net/ORDO/Orphanet_275749 |
Delta-beta-thalassemia | http://www.orpha.net/ORDO/Orphanet_231237 | http://www.orpha.net/ORDO/Orphanet_231230 |
Hemoglobin C - beta-thalassemia | http://www.orpha.net/ORDO/Orphanet_231242 | http://www.orpha.net/ORDO/Orphanet_231230 |
Hemoglobin E - beta-thalassemia | http://www.orpha.net/ORDO/Orphanet_231249 | http://www.orpha.net/ORDO/Orphanet_231230 |
Hereditary persistence of fetal hemoglobin - beta-thalassemia | http://www.orpha.net/ORDO/Orphanet_46532 | http://www.orpha.net/ORDO/Orphanet_231230 |
Hemoglobin Lepore - beta-thalassemia | http://www.orpha.net/ORDO/Orphanet_330032 | http://www.orpha.net/ORDO/Orphanet_231230 |
Beta-thalassemia with other manifestations | http://www.orpha.net/ORDO/Orphanet_231386 | http://www.orpha.net/ORDO/Orphanet_275749 |
Beta-thalassemia - X-linked thrombocytopenia | http://www.orpha.net/ORDO/Orphanet_231393 | http://www.orpha.net/ORDO/Orphanet_231386 |
Beta-thalassemia | http://www.orpha.net/ORDO/Orphanet_848 | http://www.orpha.net/ORDO/Orphanet_275749 |
Beta-thalassemia major | http://www.orpha.net/ORDO/Orphanet_231214 | http://www.orpha.net/ORDO/Orphanet_848 |
Beta-thalassemia intermedia | http://www.orpha.net/ORDO/Orphanet_231222 | http://www.orpha.net/ORDO/Orphanet_848 |
Dominant beta-thalassemia | http://www.orpha.net/ORDO/Orphanet_231226 | http://www.orpha.net/ORDO/Orphanet_848 |
sickle cell disease and related diseases | http://purl.obolibrary.org/obo/MONDO_0017146 | http://purl.obolibrary.org/obo/MONDO_0019050 |
sickle cell disease associated with an other hemoglobin anomaly | http://purl.obolibrary.org/obo/MONDO_0016667 | http://purl.obolibrary.org/obo/MONDO_0017146 |
sickle cell-hemoglobin E disease syndrome | http://purl.obolibrary.org/obo/MONDO_0016671 | http://purl.obolibrary.org/obo/MONDO_0016667 |
sickle cell-hemoglobin d disease syndrome | http://purl.obolibrary.org/obo/MONDO_0016670 | http://purl.obolibrary.org/obo/MONDO_0016667 |
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | http://purl.obolibrary.org/obo/MONDO_0016672 | http://purl.obolibrary.org/obo/MONDO_0016667 |
sickle cell-beta-thalassemia disease syndrome | http://purl.obolibrary.org/obo/MONDO_0016668 | http://purl.obolibrary.org/obo/MONDO_0016667 |
sickle cell-hemoglobin c disease syndrome | http://purl.obolibrary.org/obo/MONDO_0016669 | http://purl.obolibrary.org/obo/MONDO_0016667 |
beta-thalassemia and related diseases | http://purl.obolibrary.org/obo/MONDO_0017145 | http://purl.obolibrary.org/obo/MONDO_0019050 |
beta-thalassemia-X-linked thrombocytopenia syndrome | http://purl.obolibrary.org/obo/MONDO_0010745 | http://purl.obolibrary.org/obo/MONDO_0017145 |
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | http://purl.obolibrary.org/obo/MONDO_0018749 | http://purl.obolibrary.org/obo/MONDO_0017145 |
hemoglobin E-beta-thalassemia syndrome | http://purl.obolibrary.org/obo/MONDO_0016491 | http://purl.obolibrary.org/obo/MONDO_0017145 |
hemoglobin C-beta-thalassemia syndrome | http://purl.obolibrary.org/obo/MONDO_0016490 | http://purl.obolibrary.org/obo/MONDO_0017145 |
delta-beta-thalassemia | http://purl.obolibrary.org/obo/MONDO_0016489 | http://purl.obolibrary.org/obo/MONDO_0017145 |
hemoglobin Lepore-beta-thalassemia syndrome | http://purl.obolibrary.org/obo/MONDO_0018022 | http://purl.obolibrary.org/obo/MONDO_0017145 |
hemoglobinopathy Toms River | http://purl.obolibrary.org/obo/MONDO_0017238 | http://purl.obolibrary.org/obo/MONDO_0019050 |
alpha-thalassemia-myelodysplastic syndrome | http://purl.obolibrary.org/obo/MONDO_0010328 | http://purl.obolibrary.org/obo/MONDO_0019050 |
hemoglobin C disease | http://purl.obolibrary.org/obo/MONDO_0016242 | http://purl.obolibrary.org/obo/MONDO_0019050 |
hemoglobin E disease | http://purl.obolibrary.org/obo/MONDO_0016243 | http://purl.obolibrary.org/obo/MONDO_0019050 |
congenital nonspherocytic hemolytic anemia | http://www.ebi.ac.uk/efo/EFO_1000641 | http://purl.obolibrary.org/obo/MONDO_0019050 |
hemolytic anemia due to glucophosphate isomerase deficiency | http://purl.obolibrary.org/obo/MONDO_0013275 | http://www.ebi.ac.uk/efo/EFO_1000641 |
pyruvate kinase deficiency of red cells | http://purl.obolibrary.org/obo/MONDO_0009950 | http://www.ebi.ac.uk/efo/EFO_1000641 |
acquired hemoglobinopathy | http://purl.obolibrary.org/obo/MONDO_0044349 | http://purl.obolibrary.org/obo/MONDO_0044348 |
alpha-thalassemia and related diseases | http://purl.obolibrary.org/obo/MONDO_0017144 | http://purl.obolibrary.org/obo/MONDO_0044348 |
alpha-thalassemia-related diseases | http://purl.obolibrary.org/obo/MONDO_0016513 | http://purl.obolibrary.org/obo/MONDO_0017144 |
Hematological disorder with renal involvement | http://www.orpha.net/ORDO/Orphanet_93614 | http://www.ebi.ac.uk/efo/EFO_0005803 |
autoimmune disorder of blood | http://purl.obolibrary.org/obo/MONDO_0000602 | http://www.ebi.ac.uk/efo/EFO_0005803 |
Anemia, Hemolytic, Autoimmune | http://www.ebi.ac.uk/efo/EFO_1001264 | http://purl.obolibrary.org/obo/MONDO_0000602 |
primary thrombocytopenia | http://purl.obolibrary.org/obo/MONDO_0004680 | http://purl.obolibrary.org/obo/MONDO_0000602 |
autoimmune thrombocytopenic purpura | http://www.ebi.ac.uk/efo/EFO_0007160 | http://purl.obolibrary.org/obo/MONDO_0004680 |
congenital hematological disorder | http://purl.obolibrary.org/obo/MONDO_0009332 | http://www.ebi.ac.uk/efo/EFO_0005803 |
congenital agammaglobulinemia | http://purl.obolibrary.org/obo/MONDO_0001902 | http://purl.obolibrary.org/obo/MONDO_0009332 |
GNE myopathy | http://purl.obolibrary.org/obo/MONDO_0011603 | http://purl.obolibrary.org/obo/MONDO_0009332 |
congenital vitamin K-dependent coagulation factors deficiency | http://purl.obolibrary.org/obo/MONDO_0015722 | http://purl.obolibrary.org/obo/MONDO_0009332 |
vitamin K-dependent clotting factors, combined deficiency of, type 2 | http://purl.obolibrary.org/obo/MONDO_0011837 | http://purl.obolibrary.org/obo/MONDO_0015722 |
congenital prothrombin deficiency | http://purl.obolibrary.org/obo/MONDO_0013361 | http://purl.obolibrary.org/obo/MONDO_0015722 |
congenital factor VII deficiency | http://purl.obolibrary.org/obo/MONDO_0009211 | http://purl.obolibrary.org/obo/MONDO_0015722 |
congenital factor X deficiency | http://purl.obolibrary.org/obo/MONDO_0009212 | http://purl.obolibrary.org/obo/MONDO_0015722 |
vitamin K-dependent clotting factors, combined deficiency of, type 1 | http://purl.obolibrary.org/obo/MONDO_0010187 | http://purl.obolibrary.org/obo/MONDO_0015722 |
congenital plasminogen activator inhibitor type 1 deficiency | http://purl.obolibrary.org/obo/MONDO_0013227 | http://purl.obolibrary.org/obo/MONDO_0009332 |
constitutional neutropenia | http://purl.obolibrary.org/obo/MONDO_0015134 | http://purl.obolibrary.org/obo/MONDO_0009332 |
poikiloderma with neutropenia | http://purl.obolibrary.org/obo/MONDO_0011405 | http://purl.obolibrary.org/obo/MONDO_0015134 |
cyclic hematopoiesis | http://purl.obolibrary.org/obo/MONDO_0008090 | http://purl.obolibrary.org/obo/MONDO_0015134 |
primary immunodeficiency syndrome due to p14 deficiency | http://purl.obolibrary.org/obo/MONDO_0012559 | http://purl.obolibrary.org/obo/MONDO_0015134 |
glycogen storage disease Ib | http://purl.obolibrary.org/obo/MONDO_0009288 | http://purl.obolibrary.org/obo/MONDO_0015134 |
Lichtenstein syndrome | http://purl.obolibrary.org/obo/MONDO_0009523 | http://purl.obolibrary.org/obo/MONDO_0015134 |
severe congenital neutropenia | http://purl.obolibrary.org/obo/MONDO_0018542 | http://purl.obolibrary.org/obo/MONDO_0015134 |
neutropenia, severe congenital, 8, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0032899 | http://purl.obolibrary.org/obo/MONDO_0018542 |
X-linked severe congenital neutropenia | http://purl.obolibrary.org/obo/MONDO_0010294 | http://purl.obolibrary.org/obo/MONDO_0018542 |
autosomal recessive severe congenital neutropenia | http://purl.obolibrary.org/obo/MONDO_0028226 | http://purl.obolibrary.org/obo/MONDO_0018542 |
Kostmann syndrome | http://purl.obolibrary.org/obo/MONDO_0012548 | http://purl.obolibrary.org/obo/MONDO_0028226 |
autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | http://purl.obolibrary.org/obo/MONDO_0012930 | http://purl.obolibrary.org/obo/MONDO_0028226 |
congenital neutropenia-myelofibrosis-nephromegaly syndrome | http://purl.obolibrary.org/obo/MONDO_0014118 | http://purl.obolibrary.org/obo/MONDO_0028226 |
autosomal dominant severe congenital neutropenia | http://purl.obolibrary.org/obo/MONDO_0008742 | http://purl.obolibrary.org/obo/MONDO_0018542 |
neutropenia, severe congenital, 2, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0013139 | http://purl.obolibrary.org/obo/MONDO_0008742 |
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | http://purl.obolibrary.org/obo/MONDO_0012465 | http://purl.obolibrary.org/obo/MONDO_0009332 |
congenital anemia | http://purl.obolibrary.org/obo/MONDO_0000577 | http://purl.obolibrary.org/obo/MONDO_0009332 |
congenital dyserythropoietic anemia type 4 | http://purl.obolibrary.org/obo/MONDO_0013355 | http://purl.obolibrary.org/obo/MONDO_0000577 |
congenital dyserythropoietic anemia type 3 | http://purl.obolibrary.org/obo/MONDO_0007109 | http://purl.obolibrary.org/obo/MONDO_0000577 |
congenital dyserythropoietic anemia type 1 | http://purl.obolibrary.org/obo/MONDO_0020337 | http://purl.obolibrary.org/obo/MONDO_0000577 |
congenital dyserythropoietic anemia type 2 | http://purl.obolibrary.org/obo/MONDO_0009134 | http://purl.obolibrary.org/obo/MONDO_0000577 |
severe congenital hypochromic anemia with ringed sideroblasts | http://purl.obolibrary.org/obo/MONDO_0014094 | http://purl.obolibrary.org/obo/MONDO_0000577 |
congenital thrombotic thrombocytopenic purpura | http://purl.obolibrary.org/obo/MONDO_0010122 | http://purl.obolibrary.org/obo/MONDO_0009332 |
congenital factor XII deficiency | http://purl.obolibrary.org/obo/MONDO_0009315 | http://purl.obolibrary.org/obo/MONDO_0009332 |
congenital factor XI deficiency | http://purl.obolibrary.org/obo/MONDO_0012897 | http://purl.obolibrary.org/obo/MONDO_0009332 |
congenital analbuminemia | http://purl.obolibrary.org/obo/MONDO_0014449 | http://purl.obolibrary.org/obo/MONDO_0009332 |
congenital factor XIII deficiency | http://purl.obolibrary.org/obo/MONDO_0018029 | http://purl.obolibrary.org/obo/MONDO_0009332 |
factor XIII, A subunit, deficiency of | http://purl.obolibrary.org/obo/MONDO_0013187 | http://purl.obolibrary.org/obo/MONDO_0018029 |
L-ferritin deficiency | http://purl.obolibrary.org/obo/MONDO_0014274 | http://www.ebi.ac.uk/efo/EFO_0005803 |
anemia | http://purl.obolibrary.org/obo/MONDO_0002280 | http://www.ebi.ac.uk/efo/EFO_0005803 |
neonatal anemia | http://purl.obolibrary.org/obo/MONDO_0001240 | http://purl.obolibrary.org/obo/MONDO_0002280 |
twin-to-twin transfusion syndrome | http://www.ebi.ac.uk/efo/EFO_1001221 | http://purl.obolibrary.org/obo/MONDO_0001240 |
kernicterus due to isoimmunization | http://www.ebi.ac.uk/efo/EFO_1000721 | http://purl.obolibrary.org/obo/MONDO_0001240 |
microcytic anemia | http://purl.obolibrary.org/obo/MONDO_0001245 | http://purl.obolibrary.org/obo/MONDO_0002280 |
hypochromic microcytic anemia | http://purl.obolibrary.org/obo/MONDO_0000387 | http://purl.obolibrary.org/obo/MONDO_0001245 |
anemia, hypochromic microcytic with iron overload | http://purl.obolibrary.org/obo/MONDO_0000104 | http://purl.obolibrary.org/obo/MONDO_0000387 |
microcytic anemia with liver iron overload | http://purl.obolibrary.org/obo/MONDO_0008787 | http://purl.obolibrary.org/obo/MONDO_0000104 |
IRIDA syndrome | http://purl.obolibrary.org/obo/MONDO_0008788 | http://purl.obolibrary.org/obo/MONDO_0001245 |
fetal erythroblastosis | http://www.ebi.ac.uk/efo/EFO_1000937 | http://purl.obolibrary.org/obo/MONDO_0001245 |
hypochromic anemia | http://purl.obolibrary.org/obo/MONDO_0001357 | http://purl.obolibrary.org/obo/MONDO_0002280 |
pure red-cell aplasia | http://purl.obolibrary.org/obo/MONDO_0001705 | http://purl.obolibrary.org/obo/MONDO_0002280 |
deficiency anemia | http://purl.obolibrary.org/obo/MONDO_0001639 | http://purl.obolibrary.org/obo/MONDO_0002280 |
inherited deficiency anemia | http://purl.obolibrary.org/obo/MONDO_0016624 | http://purl.obolibrary.org/obo/MONDO_0001639 |
constitutional megaloblastic anemia with severe neurologic disease | http://purl.obolibrary.org/obo/MONDO_0013456 | http://purl.obolibrary.org/obo/MONDO_0016624 |
vitamin B12- and folate-independent constitutional megaloblastic anemia | http://purl.obolibrary.org/obo/MONDO_0020112 | http://purl.obolibrary.org/obo/MONDO_0016624 |
orotic aciduria | http://purl.obolibrary.org/obo/MONDO_0009797 | http://purl.obolibrary.org/obo/MONDO_0020112 |
hypoxanthine-guanine phosphoribosyltransferase deficiency | http://purl.obolibrary.org/obo/MONDO_0016088 | http://purl.obolibrary.org/obo/MONDO_0020112 |
hypoxanthine guanine phosphoribosyltransferase partial deficiency | http://purl.obolibrary.org/obo/MONDO_0010299 | http://purl.obolibrary.org/obo/MONDO_0016088 |
hereditary intrinsic factor deficiency | http://purl.obolibrary.org/obo/MONDO_0009852 | http://purl.obolibrary.org/obo/MONDO_0016624 |
Imerslund-Grasbeck syndrome | http://purl.obolibrary.org/obo/MONDO_0009853 | http://purl.obolibrary.org/obo/MONDO_0016624 |
Imerslund-Grasbeck syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0100157 | http://purl.obolibrary.org/obo/MONDO_0009853 |
transcobalamin II deficiency | http://purl.obolibrary.org/obo/MONDO_0010149 | http://purl.obolibrary.org/obo/MONDO_0016624 |
formiminoglutamic aciduria | http://purl.obolibrary.org/obo/MONDO_0009240 | http://purl.obolibrary.org/obo/MONDO_0016624 |
hereditary folate malabsorption | http://purl.obolibrary.org/obo/MONDO_0009238 | http://purl.obolibrary.org/obo/MONDO_0016624 |
methylmalonic aciduria and homocystinuria | http://purl.obolibrary.org/obo/MONDO_0016826 | http://purl.obolibrary.org/obo/MONDO_0016624 |
methylmalonic acidemia with homocystinuria, type cblJ | http://purl.obolibrary.org/obo/MONDO_0013925 | http://purl.obolibrary.org/obo/MONDO_0016826 |
methylmalonic aciduria and homocystinuria type cblC | http://purl.obolibrary.org/obo/MONDO_0010184 | http://purl.obolibrary.org/obo/MONDO_0016826 |
methylmalonic aciduria and homocystinuria type cblD | http://purl.obolibrary.org/obo/MONDO_0010185 | http://purl.obolibrary.org/obo/MONDO_0016826 |
methylmalonic aciduria and homocystinuria type cblF | http://purl.obolibrary.org/obo/MONDO_0010183 | http://purl.obolibrary.org/obo/MONDO_0016826 |
methylmalonic acidemia with homocystinuria, type cblX | http://purl.obolibrary.org/obo/MONDO_0010657 | http://purl.obolibrary.org/obo/MONDO_0016826 |
homocystinuria without methylmalonic aciduria | http://purl.obolibrary.org/obo/MONDO_0018964 | http://purl.obolibrary.org/obo/MONDO_0016624 |
methylcobalamin deficiency type cblDv1 | http://purl.obolibrary.org/obo/MONDO_0017683 | http://purl.obolibrary.org/obo/MONDO_0018964 |
methylcobalamin deficiency type cblE | http://purl.obolibrary.org/obo/MONDO_0009354 | http://purl.obolibrary.org/obo/MONDO_0018964 |
methylcobalamin deficiency type cblG | http://purl.obolibrary.org/obo/MONDO_0009609 | http://purl.obolibrary.org/obo/MONDO_0018964 |
atransferrinemia | http://purl.obolibrary.org/obo/MONDO_0008846 | http://purl.obolibrary.org/obo/MONDO_0016624 |
acquired deficiency anemia | http://purl.obolibrary.org/obo/MONDO_0016625 | http://purl.obolibrary.org/obo/MONDO_0001639 |
constitutional dyserythropoietic anemia | http://purl.obolibrary.org/obo/MONDO_0017397 | http://purl.obolibrary.org/obo/MONDO_0002280 |
congenital dyserythropoietic anemia | http://purl.obolibrary.org/obo/MONDO_0019403 | http://purl.obolibrary.org/obo/MONDO_0017397 |
thrombocytopenia with congenital dyserythropoietic anemia | http://purl.obolibrary.org/obo/MONDO_0019031 | http://purl.obolibrary.org/obo/MONDO_0019403 |
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia | http://purl.obolibrary.org/obo/MONDO_0010444 | http://purl.obolibrary.org/obo/MONDO_0019403 |
sideroblastic anemia | http://purl.obolibrary.org/obo/MONDO_0015194 | http://purl.obolibrary.org/obo/MONDO_0002280 |
inherited sideroblastic anemia | http://purl.obolibrary.org/obo/MONDO_0020099 | http://purl.obolibrary.org/obo/MONDO_0015194 |
X-linked sideroblastic anemia 1 | http://purl.obolibrary.org/obo/MONDO_0020721 | http://purl.obolibrary.org/obo/MONDO_0020099 |
autosomal recessive sideroblastic anemia | http://purl.obolibrary.org/obo/MONDO_0016828 | http://purl.obolibrary.org/obo/MONDO_0020099 |
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | http://purl.obolibrary.org/obo/MONDO_0014487 | http://purl.obolibrary.org/obo/MONDO_0020099 |
macrocytic anemia | http://purl.obolibrary.org/obo/MONDO_0002281 | http://purl.obolibrary.org/obo/MONDO_0002280 |
megaloblastic anemia | http://purl.obolibrary.org/obo/MONDO_0001700 | http://purl.obolibrary.org/obo/MONDO_0002281 |
pernicious anemia | http://www.ebi.ac.uk/efo/EFO_0005576 | http://purl.obolibrary.org/obo/MONDO_0001700 |
normocytic anemia | http://purl.obolibrary.org/obo/MONDO_0004139 | http://purl.obolibrary.org/obo/MONDO_0002280 |
familial hemolytic anemia | http://purl.obolibrary.org/obo/MONDO_0003689 | http://purl.obolibrary.org/obo/MONDO_0004139 |
southeast Asian ovalocytosis | http://purl.obolibrary.org/obo/MONDO_0008165 | http://purl.obolibrary.org/obo/MONDO_0003689 |
hemolytic-uremic syndrome | http://purl.obolibrary.org/obo/MONDO_0001549 | http://purl.obolibrary.org/obo/MONDO_0003689 |
infection-related hemolytic uremic syndrome | http://purl.obolibrary.org/obo/MONDO_0034103 | http://purl.obolibrary.org/obo/MONDO_0001549 |
Rh deficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0019107 | http://purl.obolibrary.org/obo/MONDO_0003689 |
hereditary spherocytosis | http://purl.obolibrary.org/obo/MONDO_0019350 | http://purl.obolibrary.org/obo/MONDO_0003689 |
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | http://purl.obolibrary.org/obo/MONDO_0009946 | http://purl.obolibrary.org/obo/MONDO_0003689 |
cutaneous porphyria | http://purl.obolibrary.org/obo/MONDO_0009902 | http://purl.obolibrary.org/obo/MONDO_0003689 |
hemolytic anemia due to erythrocyte adenosine deaminase overproduction | http://purl.obolibrary.org/obo/MONDO_0020458 | http://purl.obolibrary.org/obo/MONDO_0003689 |
elliptocytosis 2 | http://purl.obolibrary.org/obo/MONDO_0007533 | http://purl.obolibrary.org/obo/MONDO_0003689 |
glycogen storage disease due to aldolase A deficiency | http://purl.obolibrary.org/obo/MONDO_0012747 | http://purl.obolibrary.org/obo/MONDO_0003689 |
renal tubular acidosis, distal, 4, with hemolytic anemia | http://purl.obolibrary.org/obo/MONDO_0012700 | http://purl.obolibrary.org/obo/MONDO_0003689 |
primary CD59 deficiency | http://purl.obolibrary.org/obo/MONDO_0012858 | http://purl.obolibrary.org/obo/MONDO_0003689 |
hemolytic anemia due to diphosphoglycerate mutase deficiency | http://purl.obolibrary.org/obo/MONDO_0009113 | http://purl.obolibrary.org/obo/MONDO_0003689 |
non-spherocytic hemolytic anemia due to hexokinase deficiency | http://purl.obolibrary.org/obo/MONDO_0009340 | http://purl.obolibrary.org/obo/MONDO_0003689 |
hemolytic anemia due to adenylate kinase deficiency | http://purl.obolibrary.org/obo/MONDO_0012967 | http://purl.obolibrary.org/obo/MONDO_0003689 |
glycogen storage disease VII | http://purl.obolibrary.org/obo/MONDO_0009295 | http://purl.obolibrary.org/obo/MONDO_0003689 |
glycogen storage disease due to phosphoglycerate kinase 1 deficiency | http://purl.obolibrary.org/obo/MONDO_0010392 | http://purl.obolibrary.org/obo/MONDO_0003689 |
triosephosphate isomerase deficiency | http://purl.obolibrary.org/obo/MONDO_0014221 | http://purl.obolibrary.org/obo/MONDO_0003689 |
familial pseudohyperkalemia | http://purl.obolibrary.org/obo/MONDO_0012204 | http://purl.obolibrary.org/obo/MONDO_0003689 |
McLeod neuroacanthocytosis syndrome | http://purl.obolibrary.org/obo/MONDO_0018945 | http://purl.obolibrary.org/obo/MONDO_0003689 |
abetalipoproteinemia | http://purl.obolibrary.org/obo/MONDO_0008692 | http://purl.obolibrary.org/obo/MONDO_0003689 |
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | http://purl.obolibrary.org/obo/MONDO_0008689 | http://purl.obolibrary.org/obo/MONDO_0003689 |
hereditary elliptocytosis | http://purl.obolibrary.org/obo/MONDO_0017319 | http://purl.obolibrary.org/obo/MONDO_0004139 |
hereditary stomatocytosis | http://purl.obolibrary.org/obo/MONDO_0020102 | http://purl.obolibrary.org/obo/MONDO_0004139 |
dehydrated hereditary stomatocytosis | http://purl.obolibrary.org/obo/MONDO_0017910 | http://purl.obolibrary.org/obo/MONDO_0020102 |
overhydrated hereditary stomatocytosis | http://purl.obolibrary.org/obo/MONDO_0008493 | http://purl.obolibrary.org/obo/MONDO_0020102 |
cryohydrocytosis | http://purl.obolibrary.org/obo/MONDO_0008494 | http://purl.obolibrary.org/obo/MONDO_0020102 |
6-phosphogluconate dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0020457 | http://purl.obolibrary.org/obo/MONDO_0004139 |
hemolytic anemia due to glutathione reductase deficiency | http://purl.obolibrary.org/obo/MONDO_0019531 | http://purl.obolibrary.org/obo/MONDO_0004139 |
Heinz body anemia | http://purl.obolibrary.org/obo/MONDO_0007705 | http://purl.obolibrary.org/obo/MONDO_0004139 |
hemolytic anemia | http://www.ebi.ac.uk/efo/EFO_0005558 | http://purl.obolibrary.org/obo/MONDO_0004139 |
Congenital hemolytic anemia | http://purl.obolibrary.org/obo/HP_0004804 | http://www.ebi.ac.uk/efo/EFO_0005558 |
anemia due to enzyme disorder | http://www.ebi.ac.uk/efo/EFO_0009529 | http://purl.obolibrary.org/obo/MONDO_0002280 |
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder | http://www.orpha.net/ORDO/Orphanet_98374 | http://www.ebi.ac.uk/efo/EFO_0009529 |
Hemolytic anemia due to adenylate kinase deficiency | http://www.orpha.net/ORDO/Orphanet_86817 | http://www.orpha.net/ORDO/Orphanet_98374 |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | http://www.orpha.net/ORDO/Orphanet_35120 | http://www.orpha.net/ORDO/Orphanet_98374 |
Anemia due to adenosine triphosphatase deficiency | http://www.orpha.net/ORDO/Orphanet_1044 | http://www.orpha.net/ORDO/Orphanet_98374 |
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction | http://www.orpha.net/ORDO/Orphanet_99138 | http://www.orpha.net/ORDO/Orphanet_98374 |
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies | http://www.orpha.net/ORDO/Orphanet_98370 | http://www.ebi.ac.uk/efo/EFO_0009529 |
Hemolytic anemia due to glutathione reductase deficiency | http://www.orpha.net/ORDO/Orphanet_90030 | http://www.orpha.net/ORDO/Orphanet_98370 |
Glutathione synthetase deficiency | http://www.orpha.net/ORDO/Orphanet_32 | http://www.orpha.net/ORDO/Orphanet_98370 |
Glutathione synthetase deficiency without 5-oxoprolinuria | http://www.orpha.net/ORDO/Orphanet_289849 | http://www.orpha.net/ORDO/Orphanet_32 |
Glutathione synthetase deficiency with 5-oxoprolinuria | http://www.orpha.net/ORDO/Orphanet_289846 | http://www.orpha.net/ORDO/Orphanet_32 |
Gamma-glutamylcysteine synthetase deficiency | http://www.orpha.net/ORDO/Orphanet_33574 | http://www.orpha.net/ORDO/Orphanet_98370 |
anemia due to erythrocyte enzyme disorder | http://purl.obolibrary.org/obo/MONDO_0020585 | http://www.ebi.ac.uk/efo/EFO_0009529 |
hemorrhagic disease | http://purl.obolibrary.org/obo/MONDO_0002243 | http://www.ebi.ac.uk/efo/EFO_0005803 |
thrombomodulin-related bleeding disorder | http://purl.obolibrary.org/obo/MONDO_0013775 | http://purl.obolibrary.org/obo/MONDO_0002243 |
East Texas bleeding disorder | http://purl.obolibrary.org/obo/MONDO_0011615 | http://purl.obolibrary.org/obo/MONDO_0002243 |
hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | http://purl.obolibrary.org/obo/MONDO_0015801 | http://purl.obolibrary.org/obo/MONDO_0002243 |
vascular hemostatic disease | http://purl.obolibrary.org/obo/MONDO_0003159 | http://purl.obolibrary.org/obo/MONDO_0002243 |
acquired hemophilia | http://purl.obolibrary.org/obo/MONDO_0019139 | http://purl.obolibrary.org/obo/MONDO_0002243 |
acquired factor XI deficiency | http://purl.obolibrary.org/obo/MONDO_0035740 | http://purl.obolibrary.org/obo/MONDO_0019139 |
alpha-2-plasmin inhibitor deficiency | http://purl.obolibrary.org/obo/MONDO_0009883 | http://purl.obolibrary.org/obo/MONDO_0002243 |
acquired von willebrand syndrome | http://purl.obolibrary.org/obo/MONDO_0020460 | http://purl.obolibrary.org/obo/MONDO_0002243 |
hereditary von Willebrand disease | http://purl.obolibrary.org/obo/MONDO_0019565 | http://purl.obolibrary.org/obo/MONDO_0002243 |
pseudo-von Willebrand disease | http://purl.obolibrary.org/obo/MONDO_0008332 | http://purl.obolibrary.org/obo/MONDO_0019565 |
von Willebrand disease 2 | http://purl.obolibrary.org/obo/MONDO_0013304 | http://purl.obolibrary.org/obo/MONDO_0019565 |
von Willebrand disease type 2A | http://purl.obolibrary.org/obo/MONDO_0015628 | http://purl.obolibrary.org/obo/MONDO_0013304 |
von Willebrand disease type 2B | http://purl.obolibrary.org/obo/MONDO_0015629 | http://purl.obolibrary.org/obo/MONDO_0013304 |
von Willebrand disease type 2M | http://purl.obolibrary.org/obo/MONDO_0015630 | http://purl.obolibrary.org/obo/MONDO_0013304 |
von Willebrand disease type 2N | http://purl.obolibrary.org/obo/MONDO_0015631 | http://purl.obolibrary.org/obo/MONDO_0013304 |
von Willebrand disease 3 | http://purl.obolibrary.org/obo/MONDO_0010191 | http://purl.obolibrary.org/obo/MONDO_0019565 |
von Willebrand disease 1 | http://purl.obolibrary.org/obo/MONDO_0008668 | http://purl.obolibrary.org/obo/MONDO_0019565 |
congenital factor V deficiency | http://purl.obolibrary.org/obo/MONDO_0009210 | http://purl.obolibrary.org/obo/MONDO_0002243 |
inherited prekallikrein deficiency | http://purl.obolibrary.org/obo/MONDO_0012901 | http://purl.obolibrary.org/obo/MONDO_0002243 |
congenital high-molecular-weight kininogen deficiency | http://purl.obolibrary.org/obo/MONDO_0009234 | http://purl.obolibrary.org/obo/MONDO_0002243 |
hemophilia B | http://purl.obolibrary.org/obo/MONDO_0010604 | http://purl.obolibrary.org/obo/MONDO_0002243 |
symptomatic form of hemophilia B in female carriers | http://purl.obolibrary.org/obo/MONDO_0015788 | http://purl.obolibrary.org/obo/MONDO_0010604 |
moderately severe hemophilia B | http://purl.obolibrary.org/obo/MONDO_0015716 | http://purl.obolibrary.org/obo/MONDO_0010604 |
mild hemophilia B | http://purl.obolibrary.org/obo/MONDO_0015717 | http://purl.obolibrary.org/obo/MONDO_0010604 |
severe hemophilia B | http://purl.obolibrary.org/obo/MONDO_0015715 | http://purl.obolibrary.org/obo/MONDO_0010604 |
hemophilia A | http://purl.obolibrary.org/obo/MONDO_0010602 | http://purl.obolibrary.org/obo/MONDO_0002243 |
symptomatic form of hemophilia A in female carriers | http://purl.obolibrary.org/obo/MONDO_0015787 | http://purl.obolibrary.org/obo/MONDO_0010602 |
severe hemophilia A | http://purl.obolibrary.org/obo/MONDO_0015719 | http://purl.obolibrary.org/obo/MONDO_0010602 |
moderately severe hemophilia A | http://purl.obolibrary.org/obo/MONDO_0015720 | http://purl.obolibrary.org/obo/MONDO_0010602 |
mild hemophilia A | http://purl.obolibrary.org/obo/MONDO_0015721 | http://purl.obolibrary.org/obo/MONDO_0010602 |
factor X deficiency | http://purl.obolibrary.org/obo/MONDO_0002247 | http://purl.obolibrary.org/obo/MONDO_0002243 |
acquired factor X deficiency | http://purl.obolibrary.org/obo/MONDO_0021134 | http://purl.obolibrary.org/obo/MONDO_0002247 |
factor VII deficiency | http://purl.obolibrary.org/obo/MONDO_0002244 | http://purl.obolibrary.org/obo/MONDO_0002243 |
acquired factor VII deficiency | http://purl.obolibrary.org/obo/MONDO_0035738 | http://purl.obolibrary.org/obo/MONDO_0002244 |
inherited bleeding disorder, platelet-type | http://purl.obolibrary.org/obo/MONDO_0000009 | http://purl.obolibrary.org/obo/MONDO_0002243 |
Quebec platelet disorder | http://purl.obolibrary.org/obo/MONDO_0011136 | http://purl.obolibrary.org/obo/MONDO_0000009 |
bleeding diathesis due to thromboxane synthesis deficiency | http://purl.obolibrary.org/obo/MONDO_0013524 | http://purl.obolibrary.org/obo/MONDO_0000009 |
bleeding diathesis due to a collagen receptor defect | http://purl.obolibrary.org/obo/MONDO_0019138 | http://purl.obolibrary.org/obo/MONDO_0000009 |
platelet-type bleeding disorder 11 | http://purl.obolibrary.org/obo/MONDO_0013623 | http://purl.obolibrary.org/obo/MONDO_0019138 |
platelet-type bleeding disorder 9 | http://purl.obolibrary.org/obo/MONDO_0013622 | http://purl.obolibrary.org/obo/MONDO_0019138 |
Scott syndrome | http://purl.obolibrary.org/obo/MONDO_0009885 | http://purl.obolibrary.org/obo/MONDO_0000009 |
platelet-type bleeding disorder 18 | http://purl.obolibrary.org/obo/MONDO_0014386 | http://purl.obolibrary.org/obo/MONDO_0000009 |
platelet-type bleeding disorder 19 | http://purl.obolibrary.org/obo/MONDO_0014518 | http://purl.obolibrary.org/obo/MONDO_0000009 |
platelet-type bleeding disorder 8 | http://purl.obolibrary.org/obo/MONDO_0012354 | http://purl.obolibrary.org/obo/MONDO_0000009 |
cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | http://purl.obolibrary.org/obo/MONDO_0018794 | http://purl.obolibrary.org/obo/MONDO_0000009 |
Glanzmann thrombasthenia | http://purl.obolibrary.org/obo/MONDO_0100326 | http://purl.obolibrary.org/obo/MONDO_0000009 |
Glanzmann thrombasthenia 1 | http://purl.obolibrary.org/obo/MONDO_0031332 | http://purl.obolibrary.org/obo/MONDO_0100326 |
platelet-type bleeding disorder 15 | http://purl.obolibrary.org/obo/MONDO_0014078 | http://purl.obolibrary.org/obo/MONDO_0000009 |
platelet-type bleeding disorder 17 | http://purl.obolibrary.org/obo/MONDO_0008553 | http://purl.obolibrary.org/obo/MONDO_0000009 |
purpura | http://purl.obolibrary.org/obo/MONDO_0002610 | http://purl.obolibrary.org/obo/MONDO_0002243 |
thrombocytopenic purpura | http://purl.obolibrary.org/obo/MONDO_0043768 | http://purl.obolibrary.org/obo/MONDO_0002610 |
thrombotic thrombocytopenic purpura | http://purl.obolibrary.org/obo/MONDO_0018896 | http://purl.obolibrary.org/obo/MONDO_0043768 |
acquired thrombotic thrombocytopenic purpura | http://purl.obolibrary.org/obo/MONDO_0019740 | http://purl.obolibrary.org/obo/MONDO_0018896 |
hyperglobulinemic purpura | http://www.ebi.ac.uk/efo/EFO_1000972 | http://purl.obolibrary.org/obo/MONDO_0002610 |
prothrombin deficiency | http://purl.obolibrary.org/obo/MONDO_0024307 | http://purl.obolibrary.org/obo/MONDO_0002243 |
acquired prothrombin deficiency | http://purl.obolibrary.org/obo/MONDO_0016990 | http://purl.obolibrary.org/obo/MONDO_0024307 |
combined deficiency of factor V and factor VIII | http://purl.obolibrary.org/obo/MONDO_0018175 | http://purl.obolibrary.org/obo/MONDO_0002243 |
factor V and factor VIII, combined deficiency of, type 1 | http://purl.obolibrary.org/obo/MONDO_0009206 | http://purl.obolibrary.org/obo/MONDO_0018175 |
congenital fibrinogen deficiency | http://purl.obolibrary.org/obo/MONDO_0018060 | http://purl.obolibrary.org/obo/MONDO_0002243 |
familial dysfibrinogenemia | http://purl.obolibrary.org/obo/MONDO_0014452 | http://purl.obolibrary.org/obo/MONDO_0018060 |
congenital afibrinogenemia | http://purl.obolibrary.org/obo/MONDO_0008737 | http://purl.obolibrary.org/obo/MONDO_0014452 |
familial hypofibrinogenemia | http://purl.obolibrary.org/obo/MONDO_0015096 | http://purl.obolibrary.org/obo/MONDO_0008737 |
familial hypodysfibrinogenemia | http://purl.obolibrary.org/obo/MONDO_0016638 | http://purl.obolibrary.org/obo/MONDO_0008737 |
blood platelet disease | http://purl.obolibrary.org/obo/MONDO_0002245 | http://www.ebi.ac.uk/efo/EFO_0005803 |
qualitative platelet defect | http://purl.obolibrary.org/obo/MONDO_0001197 | http://purl.obolibrary.org/obo/MONDO_0002245 |
acquired thrombocytopenia | http://purl.obolibrary.org/obo/MONDO_0001198 | http://purl.obolibrary.org/obo/MONDO_0002245 |
autoimmune thrombocytopenia | http://purl.obolibrary.org/obo/MONDO_0019098 | http://purl.obolibrary.org/obo/MONDO_0002245 |
thrombocytosis disease | http://purl.obolibrary.org/obo/MONDO_0002249 | http://purl.obolibrary.org/obo/MONDO_0002245 |
familial thrombocytosis | http://purl.obolibrary.org/obo/MONDO_0019111 | http://purl.obolibrary.org/obo/MONDO_0002249 |
thrombocythemia 2 | http://purl.obolibrary.org/obo/MONDO_0011173 | http://purl.obolibrary.org/obo/MONDO_0019111 |
inherited thrombocytopenia | http://purl.obolibrary.org/obo/MONDO_0100241 | http://purl.obolibrary.org/obo/MONDO_0002245 |
thrombocytopenia, X-linked, with or without dyserythropoietic anemia | http://purl.obolibrary.org/obo/MONDO_0010308 | http://purl.obolibrary.org/obo/MONDO_0100241 |
thrombocytopenia 5 | http://purl.obolibrary.org/obo/MONDO_0014536 | http://purl.obolibrary.org/obo/MONDO_0100241 |
syndromic constitutional thrombocytopenia | http://purl.obolibrary.org/obo/MONDO_0018795 | http://purl.obolibrary.org/obo/MONDO_0100241 |
platelet storage pool deficiency | http://www.ebi.ac.uk/efo/EFO_1001112 | http://purl.obolibrary.org/obo/MONDO_0018795 |
dense granule disease | http://purl.obolibrary.org/obo/MONDO_0020118 | http://purl.obolibrary.org/obo/MONDO_0018795 |
hereditary thrombocytopenia and hematologic cancer predisposition syndrome | http://purl.obolibrary.org/obo/MONDO_0011071 | http://purl.obolibrary.org/obo/MONDO_0020118 |
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | http://purl.obolibrary.org/obo/MONDO_0100083 | http://purl.obolibrary.org/obo/MONDO_0011071 |
Wiskott-Aldrich syndrome | http://purl.obolibrary.org/obo/MONDO_0010518 | http://purl.obolibrary.org/obo/MONDO_0020118 |
marcothrombocytopenia with mitral valve insufficiency | http://purl.obolibrary.org/obo/MONDO_0016360 | http://purl.obolibrary.org/obo/MONDO_0018795 |
Stormorken syndrome | http://purl.obolibrary.org/obo/MONDO_0008497 | http://purl.obolibrary.org/obo/MONDO_0018795 |
isolated constitutional thrombocytopenia | http://purl.obolibrary.org/obo/MONDO_0018796 | http://purl.obolibrary.org/obo/MONDO_0100241 |
hereditary thrombocytopenia with normal platelets | http://purl.obolibrary.org/obo/MONDO_0017057 | http://purl.obolibrary.org/obo/MONDO_0018796 |
autosomal thrombocytopenia with normal platelets | http://purl.obolibrary.org/obo/MONDO_0015679 | http://purl.obolibrary.org/obo/MONDO_0017057 |
thrombocytopenia 3 | http://purl.obolibrary.org/obo/MONDO_0010120 | http://purl.obolibrary.org/obo/MONDO_0015679 |
thrombocytopenia 1 | http://purl.obolibrary.org/obo/MONDO_0010743 | http://purl.obolibrary.org/obo/MONDO_0017057 |
isolated hereditary giant platelet disorder | http://purl.obolibrary.org/obo/MONDO_0016361 | http://purl.obolibrary.org/obo/MONDO_0018796 |
autosomal dominant macrothrombocytopenia | http://purl.obolibrary.org/obo/MONDO_0015372 | http://purl.obolibrary.org/obo/MONDO_0016361 |
alpha granule disease | http://purl.obolibrary.org/obo/MONDO_0020117 | http://purl.obolibrary.org/obo/MONDO_0016361 |
white platelet syndrome | http://purl.obolibrary.org/obo/MONDO_0018269 | http://purl.obolibrary.org/obo/MONDO_0020117 |
Medich giant platelet syndrome | http://purl.obolibrary.org/obo/MONDO_0018268 | http://purl.obolibrary.org/obo/MONDO_0020117 |
isolated delta-storage pool disease | http://purl.obolibrary.org/obo/MONDO_0016630 | http://purl.obolibrary.org/obo/MONDO_0018796 |
leukocyte disorder | http://purl.obolibrary.org/obo/MONDO_0004805 | http://www.ebi.ac.uk/efo/EFO_0005803 |
leukostasis | http://www.ebi.ac.uk/efo/EFO_1001016 | http://purl.obolibrary.org/obo/MONDO_0004805 |
hereditary neutrophilia | http://purl.obolibrary.org/obo/MONDO_0008092 | http://purl.obolibrary.org/obo/MONDO_0004805 |
lymphopenia | http://purl.obolibrary.org/obo/MONDO_0003783 | http://purl.obolibrary.org/obo/MONDO_0004805 |
idiopathic CD4-positive T-lymphocytopenia | http://www.ebi.ac.uk/efo/EFO_0007322 | http://purl.obolibrary.org/obo/MONDO_0003783 |
neutropenia | http://purl.obolibrary.org/obo/MONDO_0001475 | http://purl.obolibrary.org/obo/MONDO_0004805 |
acquired neutropenia | http://purl.obolibrary.org/obo/MONDO_0015822 | http://purl.obolibrary.org/obo/MONDO_0001475 |
eosinophil disorder | http://purl.obolibrary.org/obo/MONDO_0044972 | http://purl.obolibrary.org/obo/MONDO_0004805 |
B cell deficiency | http://purl.obolibrary.org/obo/MONDO_0002211 | http://purl.obolibrary.org/obo/MONDO_0004805 |
selective immunoglobulin deficiency disease | http://purl.obolibrary.org/obo/MONDO_0003739 | http://purl.obolibrary.org/obo/MONDO_0002211 |
dysgammaglobulinemia | http://purl.obolibrary.org/obo/MONDO_0001342 | http://purl.obolibrary.org/obo/MONDO_0003739 |
selective IgA deficiency disease | http://www.ebi.ac.uk/efo/EFO_1001929 | http://purl.obolibrary.org/obo/MONDO_0001342 |
selective IgM deficiency | http://purl.obolibrary.org/obo/MONDO_0018039 | http://purl.obolibrary.org/obo/MONDO_0001342 |
agammaglobulinemia | http://purl.obolibrary.org/obo/MONDO_0015977 | http://purl.obolibrary.org/obo/MONDO_0002211 |
isolated agammaglobulinemia | http://purl.obolibrary.org/obo/MONDO_0016462 | http://purl.obolibrary.org/obo/MONDO_0015977 |
autosomal agammaglobulinemia | http://purl.obolibrary.org/obo/MONDO_0011096 | http://purl.obolibrary.org/obo/MONDO_0016462 |
Bruton-type agammaglobulinemia | http://purl.obolibrary.org/obo/MONDO_0010421 | http://purl.obolibrary.org/obo/MONDO_0016462 |
activated PI3K-delta syndrome | http://purl.obolibrary.org/obo/MONDO_0018338 | http://purl.obolibrary.org/obo/MONDO_0015977 |
hyperimmunoglobulin syndrome | http://purl.obolibrary.org/obo/MONDO_0002468 | http://purl.obolibrary.org/obo/MONDO_0002211 |
hyper-IgM syndrome | http://purl.obolibrary.org/obo/MONDO_0003947 | http://purl.obolibrary.org/obo/MONDO_0002468 |
hyper-IgM syndrome without susceptibility to opportunistic infections | http://purl.obolibrary.org/obo/MONDO_0015976 | http://purl.obolibrary.org/obo/MONDO_0003947 |
hyper-IgM syndrome type 2 | http://purl.obolibrary.org/obo/MONDO_0011528 | http://purl.obolibrary.org/obo/MONDO_0015976 |
hyper-IgM syndrome type 4 | http://purl.obolibrary.org/obo/MONDO_0011985 | http://purl.obolibrary.org/obo/MONDO_0015976 |
hyper-IgM syndrome type 5 | http://purl.obolibrary.org/obo/MONDO_0011971 | http://purl.obolibrary.org/obo/MONDO_0015976 |
hyper-IgM syndrome with susceptibility to opportunistic infections | http://purl.obolibrary.org/obo/MONDO_0015975 | http://purl.obolibrary.org/obo/MONDO_0003947 |
hyper-IgM syndrome type 3 | http://purl.obolibrary.org/obo/MONDO_0011735 | http://purl.obolibrary.org/obo/MONDO_0015975 |
hyper-IgM syndrome type 1 | http://purl.obolibrary.org/obo/MONDO_0010626 | http://purl.obolibrary.org/obo/MONDO_0015975 |
hyper-IgE syndrome | http://purl.obolibrary.org/obo/MONDO_0018037 | http://purl.obolibrary.org/obo/MONDO_0002468 |
hyper-IgE recurrent infection syndrome 5, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0030069 | http://purl.obolibrary.org/obo/MONDO_0018037 |
hyper-IgE recurrent infection syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0007818 | http://purl.obolibrary.org/obo/MONDO_0018037 |
combined immunodeficiency due to DOCK8 deficiency | http://purl.obolibrary.org/obo/MONDO_0009478 | http://purl.obolibrary.org/obo/MONDO_0018037 |
severe dermatitis-multiple allergies-metabolic wasting syndrome | http://purl.obolibrary.org/obo/MONDO_0014218 | http://purl.obolibrary.org/obo/MONDO_0018037 |
human granulocytic anaplasmosis | http://www.ebi.ac.uk/efo/EFO_0000777 | http://purl.obolibrary.org/obo/MONDO_0004805 |
phagocyte bactericidal dysfunction | http://www.ebi.ac.uk/efo/EFO_0007433 | http://purl.obolibrary.org/obo/MONDO_0004805 |
chronic granulomatous disease | http://purl.obolibrary.org/obo/MONDO_0018305 | http://www.ebi.ac.uk/efo/EFO_0007433 |
granulomatous disease, chronic, autosomal recessive, 5 | http://purl.obolibrary.org/obo/MONDO_0030066 | http://purl.obolibrary.org/obo/MONDO_0018305 |
eosinophil peroxidase deficiency | http://purl.obolibrary.org/obo/MONDO_0043364 | http://purl.obolibrary.org/obo/MONDO_0004805 |
Rare genetic hematologic disease | http://www.orpha.net/ORDO/Orphanet_158300 | http://www.ebi.ac.uk/efo/EFO_0005803 |
Congenital analbuminemia | http://www.orpha.net/ORDO/Orphanet_86816 | http://www.orpha.net/ORDO/Orphanet_158300 |
Rare constitutional anemia | http://www.orpha.net/ORDO/Orphanet_183651 | http://www.orpha.net/ORDO/Orphanet_158300 |
Rare constitutional hemolytic anemia | http://www.orpha.net/ORDO/Orphanet_182043 | http://www.orpha.net/ORDO/Orphanet_183651 |
Atypical hemolytic-uremic syndrome | http://www.orpha.net/ORDO/Orphanet_2134 | http://www.orpha.net/ORDO/Orphanet_182043 |
Atypical hemolytic-uremic syndrome with DGKE deficiency | http://www.orpha.net/ORDO/Orphanet_357008 | http://www.orpha.net/ORDO/Orphanet_2134 |
Atypical hemolytic-uremic syndrome with I factor anomaly | http://www.orpha.net/ORDO/Orphanet_93580 | http://www.orpha.net/ORDO/Orphanet_2134 |
Atypical hemolytic-uremic syndrome with anti-factor H antibodies | http://www.orpha.net/ORDO/Orphanet_93581 | http://www.orpha.net/ORDO/Orphanet_2134 |
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | http://www.orpha.net/ORDO/Orphanet_93576 | http://www.orpha.net/ORDO/Orphanet_2134 |
Atypical hemolytic-uremic syndrome with B factor anomaly | http://www.orpha.net/ORDO/Orphanet_93578 | http://www.orpha.net/ORDO/Orphanet_2134 |
Atypical hemolytic-uremic syndrome with H factor anomaly | http://www.orpha.net/ORDO/Orphanet_93579 | http://www.orpha.net/ORDO/Orphanet_2134 |
Atypical hemolytic-uremic syndrome with C3 anomaly | http://www.orpha.net/ORDO/Orphanet_93575 | http://www.orpha.net/ORDO/Orphanet_2134 |
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | http://www.orpha.net/ORDO/Orphanet_217023 | http://www.orpha.net/ORDO/Orphanet_2134 |
Rare constitutional hemolytic anemia due to an enzyme disorder | http://www.orpha.net/ORDO/Orphanet_98369 | http://www.orpha.net/ORDO/Orphanet_182043 |
Hemolytic anemia due to a disorder of glycolytic enzymes | http://www.orpha.net/ORDO/Orphanet_98372 | http://www.orpha.net/ORDO/Orphanet_98369 |
Triose phosphate-isomerase deficiency | http://www.orpha.net/ORDO/Orphanet_868 | http://www.orpha.net/ORDO/Orphanet_98372 |
Hemolytic anemia due to red cell pyruvate kinase deficiency | http://www.orpha.net/ORDO/Orphanet_766 | http://www.orpha.net/ORDO/Orphanet_98372 |
Hemolytic anemia due to glucophosphate isomerase deficiency | http://www.orpha.net/ORDO/Orphanet_712 | http://www.orpha.net/ORDO/Orphanet_98372 |
Hemolytic anemia due to diphosphoglycerate mutase deficiency | http://www.orpha.net/ORDO/Orphanet_714 | http://www.orpha.net/ORDO/Orphanet_98372 |
Non-spherocytic hemolytic anemia due to hexokinase deficiency | http://www.orpha.net/ORDO/Orphanet_90031 | http://www.orpha.net/ORDO/Orphanet_98372 |
Glycogen storage disease due to aldolase A deficiency | http://www.orpha.net/ORDO/Orphanet_57 | http://www.orpha.net/ORDO/Orphanet_98372 |
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_248305 | http://www.orpha.net/ORDO/Orphanet_98372 |
Congenital erythropoietic porphyria | http://www.orpha.net/ORDO/Orphanet_79277 | http://www.orpha.net/ORDO/Orphanet_98369 |
Rare constitutional hemolytic anemia due to a red cell membrane anomaly | http://www.orpha.net/ORDO/Orphanet_98364 | http://www.orpha.net/ORDO/Orphanet_182043 |
Primary CD59 deficiency | http://www.orpha.net/ORDO/Orphanet_169464 | http://www.orpha.net/ORDO/Orphanet_98364 |
Constitutional hemolytic anemia due to acanthocytosis | http://www.orpha.net/ORDO/Orphanet_98366 | http://www.orpha.net/ORDO/Orphanet_98364 |
Hereditary stomatocytosis | http://www.orpha.net/ORDO/Orphanet_98365 | http://www.orpha.net/ORDO/Orphanet_98364 |
Southeast Asian ovalocytosis | http://www.orpha.net/ORDO/Orphanet_98868 | http://www.orpha.net/ORDO/Orphanet_98365 |
Hereditary cryohydrocytosis with reduced stomatin | http://www.orpha.net/ORDO/Orphanet_168577 | http://www.orpha.net/ORDO/Orphanet_98365 |
Overhydrated hereditary stomatocytosis | http://www.orpha.net/ORDO/Orphanet_3203 | http://www.orpha.net/ORDO/Orphanet_98365 |
Dehydrated hereditary stomatocytosis | http://www.orpha.net/ORDO/Orphanet_3202 | http://www.orpha.net/ORDO/Orphanet_98365 |
Hereditary cryohydrocytosis with normal stomatin | http://www.orpha.net/ORDO/Orphanet_398088 | http://www.orpha.net/ORDO/Orphanet_98365 |
Familial pseudohyperkalemia | http://www.orpha.net/ORDO/Orphanet_90044 | http://www.orpha.net/ORDO/Orphanet_98365 |
Hereditary spherocytosis | http://www.orpha.net/ORDO/Orphanet_822 | http://www.orpha.net/ORDO/Orphanet_98364 |
recessive spherocytosis | http://www.ebi.ac.uk/efo/EFO_0011064 | http://www.orpha.net/ORDO/Orphanet_822 |
Hereditary elliptocytosis | http://www.orpha.net/ORDO/Orphanet_288 | http://www.orpha.net/ORDO/Orphanet_98364 |
Distal renal tubular acidosis with anemia | http://www.orpha.net/ORDO/Orphanet_93610 | http://www.orpha.net/ORDO/Orphanet_98364 |
Lethal hemolytic anemia - genital anomalies | http://www.orpha.net/ORDO/Orphanet_1046 | http://www.orpha.net/ORDO/Orphanet_182043 |
Constitutional sideroblastic anemia | http://www.orpha.net/ORDO/Orphanet_98362 | http://www.orpha.net/ORDO/Orphanet_183651 |
Adult-onset autosomal recessive sideroblastic anemia | http://www.orpha.net/ORDO/Orphanet_255132 | http://www.orpha.net/ORDO/Orphanet_98362 |
Mitochondrial myopathy and sideroblastic anemia | http://www.orpha.net/ORDO/Orphanet_2598 | http://www.orpha.net/ORDO/Orphanet_98362 |
Severe congenital hypochromic anemia with ringed sideroblasts | http://www.orpha.net/ORDO/Orphanet_300298 | http://www.orpha.net/ORDO/Orphanet_98362 |
Autosomal recessive sideroblastic anemia | http://www.orpha.net/ORDO/Orphanet_260305 | http://www.orpha.net/ORDO/Orphanet_98362 |
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | http://www.orpha.net/ORDO/Orphanet_369861 | http://www.orpha.net/ORDO/Orphanet_98362 |
Hemoglobinopathy | http://www.orpha.net/ORDO/Orphanet_68364 | http://www.orpha.net/ORDO/Orphanet_183651 |
Hemoglobin C disease | http://www.orpha.net/ORDO/Orphanet_2132 | http://www.orpha.net/ORDO/Orphanet_68364 |
Hemoglobin E disease | http://www.orpha.net/ORDO/Orphanet_2133 | http://www.orpha.net/ORDO/Orphanet_68364 |
Hemoglobinopathy Toms River | http://www.orpha.net/ORDO/Orphanet_280615 | http://www.orpha.net/ORDO/Orphanet_68364 |
Hereditary methemoglobinemia | http://www.orpha.net/ORDO/Orphanet_621 | http://www.orpha.net/ORDO/Orphanet_68364 |
Recessive hereditary methemoglobinemia type 2 | http://www.orpha.net/ORDO/Orphanet_139380 | http://www.orpha.net/ORDO/Orphanet_621 |
Recessive hereditary methemoglobinemia type 1 | http://www.orpha.net/ORDO/Orphanet_139373 | http://www.orpha.net/ORDO/Orphanet_621 |
Autosomal dominant methemoglobinemia | http://www.orpha.net/ORDO/Orphanet_330041 | http://www.orpha.net/ORDO/Orphanet_621 |
Hemoglobin D disease | http://www.orpha.net/ORDO/Orphanet_90039 | http://www.orpha.net/ORDO/Orphanet_68364 |
Sickle cell disease and related diseases | http://www.orpha.net/ORDO/Orphanet_275752 | http://www.orpha.net/ORDO/Orphanet_68364 |
Hemoglobin SC Disease | http://www.ebi.ac.uk/efo/EFO_1001797 | http://www.orpha.net/ORDO/Orphanet_275752 |
Sickle cell disease associated with an other hemoglobin anomaly | http://www.orpha.net/ORDO/Orphanet_251355 | http://www.orpha.net/ORDO/Orphanet_275752 |
Sickle cell - hemoglobin D disease | http://www.orpha.net/ORDO/Orphanet_251370 | http://www.orpha.net/ORDO/Orphanet_251355 |
Sickle cell - hemoglobin E disease | http://www.orpha.net/ORDO/Orphanet_251375 | http://www.orpha.net/ORDO/Orphanet_251355 |
Sickle cell - hemoglobin C disease | http://www.orpha.net/ORDO/Orphanet_251365 | http://www.orpha.net/ORDO/Orphanet_251355 |
Sickle cell - beta-thalassemia disease | http://www.orpha.net/ORDO/Orphanet_251359 | http://www.orpha.net/ORDO/Orphanet_251355 |
Constitutional dyserythropoietic anemia | http://www.orpha.net/ORDO/Orphanet_293830 | http://www.orpha.net/ORDO/Orphanet_183651 |
Congenital dyserythropoietic anemia | http://www.orpha.net/ORDO/Orphanet_85 | http://www.orpha.net/ORDO/Orphanet_293830 |
Congenital dyserythropoietic anemia type II | http://www.orpha.net/ORDO/Orphanet_98873 | http://www.orpha.net/ORDO/Orphanet_85 |
Congenital dyserythropoietic anemia type III | http://www.orpha.net/ORDO/Orphanet_98870 | http://www.orpha.net/ORDO/Orphanet_85 |
Congenital dyserythropoietic anemia type I | http://www.orpha.net/ORDO/Orphanet_98869 | http://www.orpha.net/ORDO/Orphanet_85 |
Congenital dyserythropoietic anemia type IV | http://www.orpha.net/ORDO/Orphanet_293825 | http://www.orpha.net/ORDO/Orphanet_85 |
Thrombocytopenia with congenital dyserythropoietic anemia | http://www.orpha.net/ORDO/Orphanet_67044 | http://www.orpha.net/ORDO/Orphanet_85 |
Constitutional deficiency anemia | http://www.orpha.net/ORDO/Orphanet_248296 | http://www.orpha.net/ORDO/Orphanet_183651 |
Vitamin B12- and folate-independent constitutional megaloblastic anemia | http://www.orpha.net/ORDO/Orphanet_98415 | http://www.orpha.net/ORDO/Orphanet_248296 |
Hereditary orotic aciduria | http://www.orpha.net/ORDO/Orphanet_30 | http://www.orpha.net/ORDO/Orphanet_98415 |
Constitutional megaloblastic anemia due to folate metabolism disorder | http://www.orpha.net/ORDO/Orphanet_98408 | http://www.orpha.net/ORDO/Orphanet_248296 |
Formiminoglutamic aciduria | http://www.orpha.net/ORDO/Orphanet_51208 | http://www.orpha.net/ORDO/Orphanet_98408 |
Hereditary folate malabsorption | http://www.orpha.net/ORDO/Orphanet_90045 | http://www.orpha.net/ORDO/Orphanet_98408 |
Constitutional megaloblastic anemia with severe neurologic disease | http://www.orpha.net/ORDO/Orphanet_319651 | http://www.orpha.net/ORDO/Orphanet_98408 |
Constitutional anemia due to iron metabolism disorder | http://www.orpha.net/ORDO/Orphanet_98360 | http://www.orpha.net/ORDO/Orphanet_248296 |
Microcytic anemia with liver iron overload | http://www.orpha.net/ORDO/Orphanet_83642 | http://www.orpha.net/ORDO/Orphanet_98360 |
Congenital atransferrinemia | http://www.orpha.net/ORDO/Orphanet_1195 | http://www.orpha.net/ORDO/Orphanet_98360 |
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder | http://www.orpha.net/ORDO/Orphanet_98396 | http://www.orpha.net/ORDO/Orphanet_248296 |
Transcobalamin deficiency | http://www.orpha.net/ORDO/Orphanet_859 | http://www.orpha.net/ORDO/Orphanet_98396 |
Homocystinuria without methylmalonic aciduria | http://www.orpha.net/ORDO/Orphanet_622 | http://www.orpha.net/ORDO/Orphanet_98396 |
Methylcobalamin deficiency type cblE | http://www.orpha.net/ORDO/Orphanet_2169 | http://www.orpha.net/ORDO/Orphanet_622 |
Methylcobalamin deficiency type cblG | http://www.orpha.net/ORDO/Orphanet_2170 | http://www.orpha.net/ORDO/Orphanet_622 |
Methylcobalamin deficiency type cblDv1 | http://www.orpha.net/ORDO/Orphanet_308380 | http://www.orpha.net/ORDO/Orphanet_622 |
Congenital intrinsic factor deficiency | http://www.orpha.net/ORDO/Orphanet_332 | http://www.orpha.net/ORDO/Orphanet_98396 |
Methylmalonic acidemia with homocystinuria | http://www.orpha.net/ORDO/Orphanet_26 | http://www.orpha.net/ORDO/Orphanet_98396 |
Methylmalonic acidemia with homocystinuria, type cblJ | http://www.orpha.net/ORDO/Orphanet_369955 | http://www.orpha.net/ORDO/Orphanet_26 |
Methylmalonic acidemia with homocystinuria, type cblX | http://www.orpha.net/ORDO/Orphanet_369962 | http://www.orpha.net/ORDO/Orphanet_26 |
Methylmalonic acidemia with homocystinuria type cblF | http://www.orpha.net/ORDO/Orphanet_79284 | http://www.orpha.net/ORDO/Orphanet_26 |
Methylmalonic acidemia with homocystinuria, type cblD | http://www.orpha.net/ORDO/Orphanet_79283 | http://www.orpha.net/ORDO/Orphanet_26 |
Gräsbeck-Imerslund disease | http://www.orpha.net/ORDO/Orphanet_35858 | http://www.orpha.net/ORDO/Orphanet_98396 |
Rare genetic coagulation disorder | http://www.orpha.net/ORDO/Orphanet_183654 | http://www.orpha.net/ORDO/Orphanet_158300 |
Rare hemorrhagic disorder due to a constitutional coagulation factors defect | http://www.orpha.net/ORDO/Orphanet_68334 | http://www.orpha.net/ORDO/Orphanet_183654 |
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation | http://www.orpha.net/ORDO/Orphanet_178396 | http://www.orpha.net/ORDO/Orphanet_68334 |
Von Willebrand disease | http://www.orpha.net/ORDO/Orphanet_903 | http://www.orpha.net/ORDO/Orphanet_68334 |
Von Willebrand disease type 3 | http://www.orpha.net/ORDO/Orphanet_166096 | http://www.orpha.net/ORDO/Orphanet_903 |
Von Willebrand disease type 1 | http://www.orpha.net/ORDO/Orphanet_166078 | http://www.orpha.net/ORDO/Orphanet_903 |
Von Willebrand disease type 2 | http://www.orpha.net/ORDO/Orphanet_166081 | http://www.orpha.net/ORDO/Orphanet_903 |
Von Willebrand disease type 2A | http://www.orpha.net/ORDO/Orphanet_166084 | http://www.orpha.net/ORDO/Orphanet_166081 |
Von Willebrand disease type 2B | http://www.orpha.net/ORDO/Orphanet_166087 | http://www.orpha.net/ORDO/Orphanet_166081 |
Von Willebrand disease type 2N | http://www.orpha.net/ORDO/Orphanet_166093 | http://www.orpha.net/ORDO/Orphanet_166081 |
Von Willebrand disease type 2M | http://www.orpha.net/ORDO/Orphanet_166090 | http://www.orpha.net/ORDO/Orphanet_166081 |
Congenital prekallikrein deficiency | http://www.orpha.net/ORDO/Orphanet_749 | http://www.orpha.net/ORDO/Orphanet_68334 |
Congenital high-molecular-weight kininogen deficiency | http://www.orpha.net/ORDO/Orphanet_483 | http://www.orpha.net/ORDO/Orphanet_68334 |
Congenital plasminogen activator inhibitor type 1 deficiency | http://www.orpha.net/ORDO/Orphanet_465 | http://www.orpha.net/ORDO/Orphanet_68334 |
Hemophilia | http://www.orpha.net/ORDO/Orphanet_448 | http://www.orpha.net/ORDO/Orphanet_68334 |
Hemophilia A | http://www.orpha.net/ORDO/Orphanet_98878 | http://www.orpha.net/ORDO/Orphanet_448 |
Severe hemophilia A | http://www.orpha.net/ORDO/Orphanet_169802 | http://www.orpha.net/ORDO/Orphanet_98878 |
Moderately severe hemophilia A | http://www.orpha.net/ORDO/Orphanet_169805 | http://www.orpha.net/ORDO/Orphanet_98878 |
Mild hemophilia A | http://www.orpha.net/ORDO/Orphanet_169808 | http://www.orpha.net/ORDO/Orphanet_98878 |
Symptomatic form of hemophilia A in female carriers | http://www.orpha.net/ORDO/Orphanet_177926 | http://www.orpha.net/ORDO/Orphanet_98878 |
Hemophilia B | http://www.orpha.net/ORDO/Orphanet_98879 | http://www.orpha.net/ORDO/Orphanet_448 |
hemophilia b leyden | http://www.ebi.ac.uk/efo/EFO_0009154 | http://www.orpha.net/ORDO/Orphanet_98879 |
Mild hemophilia B | http://www.orpha.net/ORDO/Orphanet_169799 | http://www.orpha.net/ORDO/Orphanet_98879 |
Severe hemophilia B | http://www.orpha.net/ORDO/Orphanet_169793 | http://www.orpha.net/ORDO/Orphanet_98879 |
Moderately severe hemophilia B | http://www.orpha.net/ORDO/Orphanet_169796 | http://www.orpha.net/ORDO/Orphanet_98879 |
Symptomatic form of hemophilia B in female carriers | http://www.orpha.net/ORDO/Orphanet_177929 | http://www.orpha.net/ORDO/Orphanet_98879 |
Congenital factor XII deficiency | http://www.orpha.net/ORDO/Orphanet_330 | http://www.orpha.net/ORDO/Orphanet_68334 |
Congenital factor XIII deficiency | http://www.orpha.net/ORDO/Orphanet_331 | http://www.orpha.net/ORDO/Orphanet_68334 |
Congenital fibrinogen deficiency | http://www.orpha.net/ORDO/Orphanet_335 | http://www.orpha.net/ORDO/Orphanet_68334 |
Familial afibrinogenemia | http://www.orpha.net/ORDO/Orphanet_98880 | http://www.orpha.net/ORDO/Orphanet_335 |
Familial dysfibrinogenemia | http://www.orpha.net/ORDO/Orphanet_98881 | http://www.orpha.net/ORDO/Orphanet_335 |
Familial hypofibrinogenemia | http://www.orpha.net/ORDO/Orphanet_101041 | http://www.orpha.net/ORDO/Orphanet_335 |
Familial hypodysfibrinogenemia | http://www.orpha.net/ORDO/Orphanet_248408 | http://www.orpha.net/ORDO/Orphanet_335 |
Congenital factor V deficiency | http://www.orpha.net/ORDO/Orphanet_326 | http://www.orpha.net/ORDO/Orphanet_68334 |
Congenital factor XI deficiency | http://www.orpha.net/ORDO/Orphanet_329 | http://www.orpha.net/ORDO/Orphanet_68334 |
Multiple sclerosis - ichthyosis - factor VIII deficiency | http://www.orpha.net/ORDO/Orphanet_3151 | http://www.orpha.net/ORDO/Orphanet_68334 |
Congenital vitamin K-dependent coagulation factors deficiency | http://www.orpha.net/ORDO/Orphanet_169826 | http://www.orpha.net/ORDO/Orphanet_68334 |
Hereditary combined deficiency of vitamin K-dependent clotting factors | http://www.orpha.net/ORDO/Orphanet_98434 | http://www.orpha.net/ORDO/Orphanet_169826 |
Congenital factor II deficiency | http://www.orpha.net/ORDO/Orphanet_325 | http://www.orpha.net/ORDO/Orphanet_169826 |
Congenital factor VII deficiency | http://www.orpha.net/ORDO/Orphanet_327 | http://www.orpha.net/ORDO/Orphanet_169826 |
Congenital factor X deficiency | http://www.orpha.net/ORDO/Orphanet_328 | http://www.orpha.net/ORDO/Orphanet_169826 |
Congenital alpha2 antiplasmin deficiency | http://www.orpha.net/ORDO/Orphanet_79 | http://www.orpha.net/ORDO/Orphanet_68334 |
Combined deficiency of factor V and factor VIII | http://www.orpha.net/ORDO/Orphanet_35909 | http://www.orpha.net/ORDO/Orphanet_68334 |
Rare hemorrhagic disorder due to a constitutional platelet anomaly | http://www.orpha.net/ORDO/Orphanet_71202 | http://www.orpha.net/ORDO/Orphanet_183654 |
Rare hemorrhagic disorder due to a platelet receptor defect | http://www.orpha.net/ORDO/Orphanet_275736 | http://www.orpha.net/ORDO/Orphanet_71202 |
P2Y12 defect | http://www.orpha.net/ORDO/Orphanet_36355 | http://www.orpha.net/ORDO/Orphanet_275736 |
Bleeding diathesis due to a collagen receptor defect | http://www.orpha.net/ORDO/Orphanet_73271 | http://www.orpha.net/ORDO/Orphanet_275736 |
Bleeding diathesis due to glycoprotein VI deficiency | http://www.orpha.net/ORDO/Orphanet_98885 | http://www.orpha.net/ORDO/Orphanet_73271 |
Rare hemorrhagic disorder due to a constitutional thrombocytopenia | http://www.orpha.net/ORDO/Orphanet_275729 | http://www.orpha.net/ORDO/Orphanet_71202 |
Platelet storage pool disease | http://www.orpha.net/ORDO/Orphanet_98454 | http://www.orpha.net/ORDO/Orphanet_275729 |
Dense granule disease | http://www.orpha.net/ORDO/Orphanet_98456 | http://www.orpha.net/ORDO/Orphanet_98454 |
Isolated delta-storage pool disease | http://www.orpha.net/ORDO/Orphanet_248340 | http://www.orpha.net/ORDO/Orphanet_98456 |
Alpha granule disease | http://www.orpha.net/ORDO/Orphanet_98455 | http://www.orpha.net/ORDO/Orphanet_98454 |
White platelet syndrome | http://www.orpha.net/ORDO/Orphanet_370131 | http://www.orpha.net/ORDO/Orphanet_98455 |
Gray platelet syndrome | http://www.orpha.net/ORDO/Orphanet_721 | http://www.orpha.net/ORDO/Orphanet_98455 |
Hereditary thrombocytopenia with normal platelets | http://www.orpha.net/ORDO/Orphanet_268322 | http://www.orpha.net/ORDO/Orphanet_275729 |
Autosomal thrombocytopenia with normal platelets | http://www.orpha.net/ORDO/Orphanet_168629 | http://www.orpha.net/ORDO/Orphanet_268322 |
X-linked thrombocytopenia with normal platelets | http://www.orpha.net/ORDO/Orphanet_852 | http://www.orpha.net/ORDO/Orphanet_268322 |
Thrombocytopenia - absent radius | http://www.orpha.net/ORDO/Orphanet_3320 | http://www.orpha.net/ORDO/Orphanet_275729 |
Bleeding diathesis due to thromboxane synthesis deficiency | http://www.orpha.net/ORDO/Orphanet_220443 | http://www.orpha.net/ORDO/Orphanet_275729 |
Inherited giant platelet disorder | http://www.orpha.net/ORDO/Orphanet_220452 | http://www.orpha.net/ORDO/Orphanet_275729 |
Autosomal dominant macrothrombocytopenia | http://www.orpha.net/ORDO/Orphanet_140957 | http://www.orpha.net/ORDO/Orphanet_220452 |
MYH9-related disease | http://www.orpha.net/ORDO/Orphanet_182050 | http://www.orpha.net/ORDO/Orphanet_220452 |
Macrothrombocytopenia with mitral valve insufficiency | http://www.orpha.net/ORDO/Orphanet_220448 | http://www.orpha.net/ORDO/Orphanet_220452 |
Stormorken-Sjaastad-Langslet syndrome | http://www.orpha.net/ORDO/Orphanet_3204 | http://www.orpha.net/ORDO/Orphanet_275729 |
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia | http://www.orpha.net/ORDO/Orphanet_71289 | http://www.orpha.net/ORDO/Orphanet_275729 |
Rare thrombotic disorder due to a constitutional coagulation factors defect | http://www.orpha.net/ORDO/Orphanet_248361 | http://www.orpha.net/ORDO/Orphanet_183654 |
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency | http://www.orpha.net/ORDO/Orphanet_83639 | http://www.orpha.net/ORDO/Orphanet_248361 |
Familial thrombomodulin anomalies | http://www.orpha.net/ORDO/Orphanet_3324 | http://www.orpha.net/ORDO/Orphanet_248361 |
Rare hereditary thrombophilia | http://www.orpha.net/ORDO/Orphanet_217454 | http://www.orpha.net/ORDO/Orphanet_248361 |
Hereditary thrombophilia due to congenital protein S deficiency | http://www.orpha.net/ORDO/Orphanet_743 | http://www.orpha.net/ORDO/Orphanet_217454 |
Hereditary thrombophilia due to congenital protein C deficiency | http://www.orpha.net/ORDO/Orphanet_745 | http://www.orpha.net/ORDO/Orphanet_217454 |
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | http://www.orpha.net/ORDO/Orphanet_217467 | http://www.orpha.net/ORDO/Orphanet_217454 |
Rare thrombotic disorder due to a constitutional platelet anomaly | http://www.orpha.net/ORDO/Orphanet_248401 | http://www.orpha.net/ORDO/Orphanet_183654 |
Hereditary thrombocytosis with transverse limb defect | http://www.orpha.net/ORDO/Orphanet_329319 | http://www.orpha.net/ORDO/Orphanet_248401 |
Familial thrombocytosis | http://www.orpha.net/ORDO/Orphanet_71493 | http://www.orpha.net/ORDO/Orphanet_248401 |
blood group incompatibility | http://purl.obolibrary.org/obo/MONDO_0002901 | http://www.ebi.ac.uk/efo/EFO_0005803 |
Rh isoimmunization | http://www.ebi.ac.uk/efo/EFO_1001159 | http://purl.obolibrary.org/obo/MONDO_0002901 |
splenic disease | http://www.ebi.ac.uk/efo/EFO_0009002 | http://www.ebi.ac.uk/efo/EFO_0005803 |
splenic infarction | http://www.ebi.ac.uk/efo/EFO_1001190 | http://www.ebi.ac.uk/efo/EFO_0009002 |
splenic tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007492 | http://www.ebi.ac.uk/efo/EFO_0009002 |
hypersplenism | http://www.ebi.ac.uk/efo/EFO_1000975 | http://www.ebi.ac.uk/efo/EFO_0009002 |
GATA1-Related X-Linked Cytopenia | http://purl.obolibrary.org/obo/MONDO_0100089 | http://www.ebi.ac.uk/efo/EFO_0005803 |
monoclonal gammopathy | http://www.ebi.ac.uk/efo/EFO_0000203 | http://www.ebi.ac.uk/efo/EFO_0005803 |
benign monoclonal gammopathy | http://www.ebi.ac.uk/efo/EFO_1000836 | http://www.ebi.ac.uk/efo/EFO_0000203 |
lymphangitis | http://www.ebi.ac.uk/efo/EFO_0007351 | http://www.ebi.ac.uk/efo/EFO_0005803 |
blood disease | http://www.ebi.ac.uk/efo/EFO_0010283 | http://www.ebi.ac.uk/efo/EFO_0005803 |
Congenital deficiency in alpha-fetoprotein | http://www.orpha.net/ORDO/Orphanet_168612 | http://www.ebi.ac.uk/efo/EFO_0010283 |
Hereditary persistence of alpha-fetoprotein | http://www.orpha.net/ORDO/Orphanet_168615 | http://www.ebi.ac.uk/efo/EFO_0010283 |
acidosis | http://www.ebi.ac.uk/efo/EFO_1000014 | http://www.ebi.ac.uk/efo/EFO_0010283 |
renal tubular acidosis | http://purl.obolibrary.org/obo/MONDO_0001909 | http://www.ebi.ac.uk/efo/EFO_1000014 |
proximal renal tubular acidosis | http://purl.obolibrary.org/obo/MONDO_0008369 | http://purl.obolibrary.org/obo/MONDO_0001909 |
autosomal recessive proximal renal tubular acidosis | http://purl.obolibrary.org/obo/MONDO_0011422 | http://purl.obolibrary.org/obo/MONDO_0008369 |
autosomal dominant proximal renal tubular acidosis | http://purl.obolibrary.org/obo/MONDO_0017829 | http://purl.obolibrary.org/obo/MONDO_0008369 |
Elevated circulating glutaric acid concentration | http://purl.obolibrary.org/obo/HP_0003530 | http://www.ebi.ac.uk/efo/EFO_1000014 |
non-typhoidal Salmonella bacteremia | http://www.ebi.ac.uk/efo/EFO_0009087 | http://www.ebi.ac.uk/efo/EFO_0010283 |
septicemic plague | http://www.ebi.ac.uk/efo/EFO_0007481 | http://www.ebi.ac.uk/efo/EFO_0010283 |
Ghosal hematodiaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_1802 | http://www.ebi.ac.uk/efo/EFO_0005803 |
hyperamylasemia | http://www.ebi.ac.uk/efo/EFO_1000969 | http://www.ebi.ac.uk/efo/EFO_0005803 |
blood coagulation disease | http://www.ebi.ac.uk/efo/EFO_0009314 | http://www.ebi.ac.uk/efo/EFO_0005803 |
inherited blood coagulation disorder | http://purl.obolibrary.org/obo/MONDO_0021181 | http://www.ebi.ac.uk/efo/EFO_0009314 |
hypoplasminogenemia | http://purl.obolibrary.org/obo/MONDO_0009009 | http://purl.obolibrary.org/obo/MONDO_0021181 |
inherited thrombophilia | http://purl.obolibrary.org/obo/MONDO_0100240 | http://purl.obolibrary.org/obo/MONDO_0021181 |
hereditary antithrombin deficiency | http://purl.obolibrary.org/obo/MONDO_0013144 | http://purl.obolibrary.org/obo/MONDO_0100240 |
hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency | http://purl.obolibrary.org/obo/MONDO_0013143 | http://purl.obolibrary.org/obo/MONDO_0100240 |
hereditary thrombophilia due to congenital protein C deficiency | http://purl.obolibrary.org/obo/MONDO_0019145 | http://purl.obolibrary.org/obo/MONDO_0100240 |
hereditary thrombophilia due to congenital protein S deficiency | http://purl.obolibrary.org/obo/MONDO_0019144 | http://purl.obolibrary.org/obo/MONDO_0100240 |
thrombophilia due to protein S deficiency, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0012868 | http://purl.obolibrary.org/obo/MONDO_0019144 |
heparin cofactor 2 deficiency | http://purl.obolibrary.org/obo/MONDO_0012876 | http://purl.obolibrary.org/obo/MONDO_0100240 |
thrombophilia, X-linked, due to factor 9 defect | http://purl.obolibrary.org/obo/MONDO_0010432 | http://purl.obolibrary.org/obo/MONDO_0100240 |
thrombophilia due to activated protein C resistance | http://purl.obolibrary.org/obo/MONDO_0008560 | http://purl.obolibrary.org/obo/MONDO_0100240 |
thrombophilia due to thrombin defect | http://purl.obolibrary.org/obo/MONDO_0008559 | http://purl.obolibrary.org/obo/MONDO_0100240 |
familial thrombomodulin anomalies | http://purl.obolibrary.org/obo/MONDO_0018047 | http://purl.obolibrary.org/obo/MONDO_0021181 |
prekallikrein deficiency | http://purl.obolibrary.org/obo/MONDO_0044744 | http://www.ebi.ac.uk/efo/EFO_0009314 |
thrombotic microangiopathy | http://purl.obolibrary.org/obo/MONDO_0019737 | http://www.ebi.ac.uk/efo/EFO_0009314 |
coagulation protein disease | http://purl.obolibrary.org/obo/MONDO_0002242 | http://www.ebi.ac.uk/efo/EFO_0009314 |
factor V deficiency | http://purl.obolibrary.org/obo/MONDO_0020586 | http://purl.obolibrary.org/obo/MONDO_0002242 |
acquired factor V deficiency | http://purl.obolibrary.org/obo/MONDO_0035737 | http://purl.obolibrary.org/obo/MONDO_0020586 |
acquired coagulation factor deficiency | http://purl.obolibrary.org/obo/MONDO_0020599 | http://purl.obolibrary.org/obo/MONDO_0002242 |
acquired factor XIII deficiency | http://purl.obolibrary.org/obo/MONDO_0021133 | http://purl.obolibrary.org/obo/MONDO_0020599 |
von Willebrand disease (hereditary or acquired) | http://purl.obolibrary.org/obo/MONDO_0024574 | http://purl.obolibrary.org/obo/MONDO_0002242 |
factor XIII deficiency | http://purl.obolibrary.org/obo/MONDO_0002241 | http://purl.obolibrary.org/obo/MONDO_0002242 |
hemophilia | http://purl.obolibrary.org/obo/MONDO_0018660 | http://purl.obolibrary.org/obo/MONDO_0002242 |
factor XI deficiency | http://purl.obolibrary.org/obo/MONDO_0020587 | http://purl.obolibrary.org/obo/MONDO_0018660 |
hemorrhagic disease of newborn | http://www.ebi.ac.uk/efo/EFO_1000964 | http://www.ebi.ac.uk/efo/EFO_0009314 |
thrombophilia | http://www.ebi.ac.uk/efo/EFO_0009315 | http://www.ebi.ac.uk/efo/EFO_0009314 |
protein S deficiency | http://purl.obolibrary.org/obo/MONDO_0002304 | http://www.ebi.ac.uk/efo/EFO_0009315 |
protein c deficiency | http://www.ebi.ac.uk/efo/EFO_0009316 | http://www.ebi.ac.uk/efo/EFO_0009315 |
respiratory system disease | http://www.ebi.ac.uk/efo/EFO_0000684 | http://www.ebi.ac.uk/efo/EFO_0000408 |
asphyxia neonatorum | http://www.ebi.ac.uk/efo/EFO_1000824 | http://www.ebi.ac.uk/efo/EFO_0000684 |
altitude sickness | http://www.ebi.ac.uk/efo/EFO_1000782 | http://www.ebi.ac.uk/efo/EFO_0000684 |
chronic mountain sickness | http://www.ebi.ac.uk/efo/EFO_0010143 | http://www.ebi.ac.uk/efo/EFO_1000782 |
lower respiratory tract disease | http://www.ebi.ac.uk/efo/EFO_0009433 | http://www.ebi.ac.uk/efo/EFO_0000684 |
bronchial disease | http://www.ebi.ac.uk/efo/EFO_1002018 | http://www.ebi.ac.uk/efo/EFO_0009433 |
bronchiectasis | http://purl.obolibrary.org/obo/MONDO_0004822 | http://www.ebi.ac.uk/efo/EFO_1002018 |
idiopathic bronchiectasis | http://purl.obolibrary.org/obo/MONDO_0018956 | http://purl.obolibrary.org/obo/MONDO_0004822 |
bronchiectasis with or without elevated sweat chloride 1 | http://purl.obolibrary.org/obo/MONDO_0008887 | http://purl.obolibrary.org/obo/MONDO_0018956 |
asthma | http://purl.obolibrary.org/obo/MONDO_0004979 | http://www.ebi.ac.uk/efo/EFO_1002018 |
childhood onset asthma | http://purl.obolibrary.org/obo/MONDO_0005405 | http://purl.obolibrary.org/obo/MONDO_0004979 |
Status Asthmaticus | http://www.ebi.ac.uk/efo/EFO_0008590 | http://purl.obolibrary.org/obo/MONDO_0004979 |
adult onset asthma | http://www.ebi.ac.uk/efo/EFO_1002011 | http://purl.obolibrary.org/obo/MONDO_0004979 |
allergic asthma | http://purl.obolibrary.org/obo/MONDO_0004784 | http://purl.obolibrary.org/obo/MONDO_0004979 |
Chronic Obstructive Asthma | http://www.ebi.ac.uk/efo/EFO_0009759 | http://purl.obolibrary.org/obo/MONDO_0004979 |
atopic asthma | http://www.ebi.ac.uk/efo/EFO_0010638 | http://purl.obolibrary.org/obo/MONDO_0004979 |
Bronchopulmonary dysplasia | http://www.orpha.net/ORDO/Orphanet_70589 | http://www.ebi.ac.uk/efo/EFO_1002018 |
bronchitis | http://www.ebi.ac.uk/efo/EFO_0009661 | http://www.ebi.ac.uk/efo/EFO_1002018 |
chronic bronchitis | http://www.ebi.ac.uk/efo/EFO_0006505 | http://www.ebi.ac.uk/efo/EFO_0009661 |
lung disease | http://www.ebi.ac.uk/efo/EFO_0003818 | http://www.ebi.ac.uk/efo/EFO_0009433 |
interstitial lung disease | http://www.ebi.ac.uk/efo/EFO_0004244 | http://www.ebi.ac.uk/efo/EFO_0003818 |
interstitial lung disease in childhood and adulthood | http://purl.obolibrary.org/obo/MONDO_0017030 | http://www.ebi.ac.uk/efo/EFO_0004244 |
secondary interstitial lung disease in childhood and adulthood | http://purl.obolibrary.org/obo/MONDO_0017034 | http://purl.obolibrary.org/obo/MONDO_0017030 |
exposure-related interstitial lung disease | http://purl.obolibrary.org/obo/MONDO_0017040 | http://purl.obolibrary.org/obo/MONDO_0017034 |
hypersensitivity pneumonitis | http://purl.obolibrary.org/obo/MONDO_0017853 | http://purl.obolibrary.org/obo/MONDO_0017040 |
occupational allergic alveolitis | http://purl.obolibrary.org/obo/MONDO_0020537 | http://purl.obolibrary.org/obo/MONDO_0017853 |
bird fancier's lung | http://www.ebi.ac.uk/efo/EFO_0007170 | http://purl.obolibrary.org/obo/MONDO_0020537 |
hypersensitivity pneumonitis, familial | http://purl.obolibrary.org/obo/MONDO_0007776 | http://purl.obolibrary.org/obo/MONDO_0017853 |
mushroom workers' lung | http://www.ebi.ac.uk/efo/EFO_0007385 | http://purl.obolibrary.org/obo/MONDO_0017853 |
sick building syndrome | http://www.ebi.ac.uk/efo/EFO_0007484 | http://purl.obolibrary.org/obo/MONDO_0017853 |
primary interstitial lung disease in childhood and adulthood | http://purl.obolibrary.org/obo/MONDO_0017031 | http://purl.obolibrary.org/obo/MONDO_0017030 |
chronic respiratory distress with surfactant metabolism deficiency | http://purl.obolibrary.org/obo/MONDO_0016323 | http://purl.obolibrary.org/obo/MONDO_0017031 |
interstitial lung disease specific to adulthood | http://purl.obolibrary.org/obo/MONDO_0017026 | http://www.ebi.ac.uk/efo/EFO_0004244 |
primary interstitial lung disease specific to adulthood | http://purl.obolibrary.org/obo/MONDO_0017027 | http://purl.obolibrary.org/obo/MONDO_0017026 |
pneumoconiosis | http://purl.obolibrary.org/obo/MONDO_0015926 | http://purl.obolibrary.org/obo/MONDO_0017027 |
silicosis | http://www.ebi.ac.uk/efo/EFO_0007485 | http://purl.obolibrary.org/obo/MONDO_0015926 |
silicotuberculosis | http://purl.obolibrary.org/obo/MONDO_0021804 | http://www.ebi.ac.uk/efo/EFO_0007485 |
Caplan's syndrome | http://www.ebi.ac.uk/efo/EFO_0007192 | http://purl.obolibrary.org/obo/MONDO_0015926 |
asbestosis | http://www.ebi.ac.uk/efo/EFO_0007153 | http://purl.obolibrary.org/obo/MONDO_0015926 |
berylliosis | http://www.ebi.ac.uk/efo/EFO_0007168 | http://purl.obolibrary.org/obo/MONDO_0015926 |
anthracosilicosis | http://www.ebi.ac.uk/efo/EFO_1000813 | http://purl.obolibrary.org/obo/MONDO_0015926 |
anthracosis | http://www.ebi.ac.uk/efo/EFO_1000814 | http://purl.obolibrary.org/obo/MONDO_0015926 |
byssinosis | http://www.ebi.ac.uk/efo/EFO_1000851 | http://purl.obolibrary.org/obo/MONDO_0015926 |
hereditary sclerosing poikiloderma with tendon and pulmonary involvement | http://purl.obolibrary.org/obo/MONDO_0014310 | http://purl.obolibrary.org/obo/MONDO_0017027 |
idiopathic interstitial pneumonia | http://purl.obolibrary.org/obo/MONDO_0002429 | http://purl.obolibrary.org/obo/MONDO_0017027 |
Cryptogenic Organizing Pneumonia | http://www.ebi.ac.uk/efo/EFO_1001300 | http://purl.obolibrary.org/obo/MONDO_0002429 |
interstitial lung disease specific to childhood | http://purl.obolibrary.org/obo/MONDO_0017014 | http://www.ebi.ac.uk/efo/EFO_0004244 |
Niemann-Pick disease type B | http://purl.obolibrary.org/obo/MONDO_0011871 | http://purl.obolibrary.org/obo/MONDO_0017014 |
primary interstitial lung disease specific to childhood | http://purl.obolibrary.org/obo/MONDO_0017015 | http://purl.obolibrary.org/obo/MONDO_0017014 |
congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome | http://purl.obolibrary.org/obo/MONDO_0013881 | http://purl.obolibrary.org/obo/MONDO_0017015 |
interstitial lung disease specific to infancy | http://purl.obolibrary.org/obo/MONDO_0017019 | http://purl.obolibrary.org/obo/MONDO_0017015 |
lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome | http://purl.obolibrary.org/obo/MONDO_0012757 | http://purl.obolibrary.org/obo/MONDO_0017015 |
bronchiolitis obliterans | http://www.ebi.ac.uk/efo/EFO_0007183 | http://www.ebi.ac.uk/efo/EFO_0004244 |
silo filler's disease | http://www.ebi.ac.uk/efo/EFO_1001182 | http://www.ebi.ac.uk/efo/EFO_0003818 |
pulmonary coin lesion | http://www.ebi.ac.uk/efo/EFO_1001133 | http://www.ebi.ac.uk/efo/EFO_0003818 |
pulmonary plasma cell granuloma | http://www.ebi.ac.uk/efo/EFO_1001135 | http://www.ebi.ac.uk/efo/EFO_0003818 |
Lung Abscess | http://www.ebi.ac.uk/efo/EFO_1001362 | http://www.ebi.ac.uk/efo/EFO_0003818 |
acute lung injury | http://www.ebi.ac.uk/efo/EFO_0004610 | http://www.ebi.ac.uk/efo/EFO_0003818 |
pulmonary alveolar proteinosis | http://purl.obolibrary.org/obo/MONDO_0001437 | http://www.ebi.ac.uk/efo/EFO_0003818 |
hereditary pulmonary alveolar proteinosis | http://purl.obolibrary.org/obo/MONDO_0012580 | http://purl.obolibrary.org/obo/MONDO_0001437 |
neonatal acute respiratory distress due to SP-B deficiency | http://purl.obolibrary.org/obo/MONDO_0009929 | http://purl.obolibrary.org/obo/MONDO_0012580 |
severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | http://purl.obolibrary.org/obo/MONDO_0014206 | http://purl.obolibrary.org/obo/MONDO_0012580 |
occupational lung disease | http://purl.obolibrary.org/obo/MONDO_0022736 | http://www.ebi.ac.uk/efo/EFO_0003818 |
Sarcoidosis | http://www.orpha.net/ORDO/Orphanet_797 | http://www.ebi.ac.uk/efo/EFO_0003818 |
Löfgren’s syndrome | http://www.ebi.ac.uk/efo/EFO_0009466 | http://www.orpha.net/ORDO/Orphanet_797 |
pulmonary alveolar microlithiasis | http://purl.obolibrary.org/obo/MONDO_0009928 | http://www.ebi.ac.uk/efo/EFO_0003818 |
pleurisy | http://www.ebi.ac.uk/efo/EFO_1001825 | http://www.ebi.ac.uk/efo/EFO_0003818 |
pleural tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007446 | http://www.ebi.ac.uk/efo/EFO_1001825 |
tuberculous empyema | http://www.ebi.ac.uk/efo/EFO_0007528 | http://www.ebi.ac.uk/efo/EFO_0007446 |
pulmonary amyloidosis | http://www.ebi.ac.uk/efo/EFO_1001910 | http://www.ebi.ac.uk/efo/EFO_0003818 |
diffuse alveolar-septal amyloidosis | http://www.ebi.ac.uk/efo/EFO_1001885 | http://www.ebi.ac.uk/efo/EFO_1001910 |
pulmonary nodular amyloidosis | http://www.ebi.ac.uk/efo/EFO_1001911 | http://www.ebi.ac.uk/efo/EFO_1001910 |
tracheobronchial amyloidosis | http://www.ebi.ac.uk/efo/EFO_1001922 | http://www.ebi.ac.uk/efo/EFO_1001910 |
pneumonitis | http://www.ebi.ac.uk/efo/EFO_1001991 | http://www.ebi.ac.uk/efo/EFO_0003818 |
Radiation Pneumonitis | http://www.ebi.ac.uk/efo/EFO_1001411 | http://www.ebi.ac.uk/efo/EFO_1001991 |
pneumonia | http://www.ebi.ac.uk/efo/EFO_0003106 | http://www.ebi.ac.uk/efo/EFO_1001991 |
Pneumonia, Aspiration | http://www.ebi.ac.uk/efo/EFO_1001399 | http://www.ebi.ac.uk/efo/EFO_0003106 |
lipid pneumonia | http://www.ebi.ac.uk/efo/EFO_0007345 | http://www.ebi.ac.uk/efo/EFO_1001399 |
bacterial pneumonia | http://www.ebi.ac.uk/efo/EFO_1001272 | http://www.ebi.ac.uk/efo/EFO_0003106 |
streptococcal pneumonia | http://www.ebi.ac.uk/efo/EFO_0007499 | http://www.ebi.ac.uk/efo/EFO_1001272 |
staphylococcal pneumonia | http://www.ebi.ac.uk/efo/EFO_0007496 | http://www.ebi.ac.uk/efo/EFO_1001272 |
pneumonia caused by gram negative bacteria | http://purl.obolibrary.org/obo/MONDO_0041850 | http://www.ebi.ac.uk/efo/EFO_1001272 |
rickettsial pneumonia | http://www.ebi.ac.uk/efo/EFO_0007472 | http://purl.obolibrary.org/obo/MONDO_0041850 |
anaerobic pneumonia | http://purl.obolibrary.org/obo/MONDO_0004649 | http://www.ebi.ac.uk/efo/EFO_1001272 |
Legionnaires' disease | http://www.ebi.ac.uk/efo/EFO_0007343 | http://www.ebi.ac.uk/efo/EFO_1001272 |
Mycoplasma pneumoniae pneumonia | http://www.ebi.ac.uk/efo/EFO_0007387 | http://www.ebi.ac.uk/efo/EFO_1001272 |
ventilator-associated pneumonia | http://www.ebi.ac.uk/efo/EFO_1001865 | http://www.ebi.ac.uk/efo/EFO_0003106 |
Methicillin-Resistant Staphylococcus Aureus Pneumonia | http://www.ebi.ac.uk/efo/EFO_0008556 | http://www.ebi.ac.uk/efo/EFO_0003106 |
viral pneumonia | http://www.ebi.ac.uk/efo/EFO_0007541 | http://www.ebi.ac.uk/efo/EFO_0003106 |
enzootic pneumonia of calves | http://www.ebi.ac.uk/efo/EFO_0007256 | http://www.ebi.ac.uk/efo/EFO_0003106 |
eosinophilic pneumonia | http://www.ebi.ac.uk/efo/EFO_0007257 | http://www.ebi.ac.uk/efo/EFO_0003106 |
recurrent pneumonia | http://www.ebi.ac.uk/efo/EFO_0007461 | http://www.ebi.ac.uk/efo/EFO_0003106 |
pneumocystosis | http://www.ebi.ac.uk/efo/EFO_0007448 | http://www.ebi.ac.uk/efo/EFO_0003106 |
bronchopneumonia | http://www.ebi.ac.uk/efo/EFO_0007184 | http://www.ebi.ac.uk/efo/EFO_0003106 |
contagious pleuropneumonia | http://www.ebi.ac.uk/efo/EFO_0007221 | http://www.ebi.ac.uk/efo/EFO_0003106 |
pulmonary tuberculosis | http://www.ebi.ac.uk/efo/EFO_1000049 | http://www.ebi.ac.uk/efo/EFO_0003818 |
bronchiolitis | http://purl.obolibrary.org/obo/MONDO_0002465 | http://www.ebi.ac.uk/efo/EFO_0003818 |
rheumatoid lung disease | http://purl.obolibrary.org/obo/MONDO_0004586 | http://www.ebi.ac.uk/efo/EFO_0003818 |
fungal lung infectious disease | http://www.ebi.ac.uk/efo/EFO_0007278 | http://www.ebi.ac.uk/efo/EFO_0003818 |
pulmonary aspergillosis | http://www.ebi.ac.uk/efo/EFO_1001834 | http://www.ebi.ac.uk/efo/EFO_0007278 |
middle lobe syndrome | http://www.ebi.ac.uk/efo/EFO_0007367 | http://www.ebi.ac.uk/efo/EFO_0003818 |
chronic lung disease | http://www.ebi.ac.uk/efo/EFO_0009910 | http://www.ebi.ac.uk/efo/EFO_0003818 |
chronic lung allograft dysfunction | http://www.ebi.ac.uk/efo/EFO_0008497 | http://www.ebi.ac.uk/efo/EFO_0009910 |
chronic obstructive pulmonary disease | http://www.ebi.ac.uk/efo/EFO_0000341 | http://www.ebi.ac.uk/efo/EFO_0009910 |
emphysema | http://www.ebi.ac.uk/efo/EFO_0000464 | http://www.ebi.ac.uk/efo/EFO_0000341 |
interstitial emphysema | http://purl.obolibrary.org/obo/MONDO_0000923 | http://www.ebi.ac.uk/efo/EFO_0000464 |
compensatory emphysema | http://purl.obolibrary.org/obo/MONDO_0000924 | http://www.ebi.ac.uk/efo/EFO_0000464 |
respiratory failure | http://www.ebi.ac.uk/efo/EFO_0009686 | http://www.ebi.ac.uk/efo/EFO_0003818 |
lung disease associated with cystic fibrosis | http://www.ebi.ac.uk/efo/EFO_0009797 | http://www.ebi.ac.uk/efo/EFO_0003818 |
pulmonary alveolitis | http://www.ebi.ac.uk/efo/EFO_0009624 | http://www.ebi.ac.uk/efo/EFO_0003818 |
pulmonary non-tuberculous mycobacterial infection | http://purl.obolibrary.org/obo/MONDO_0018469 | http://www.ebi.ac.uk/efo/EFO_0003818 |
tracheal disorder | http://purl.obolibrary.org/obo/MONDO_0002567 | http://www.ebi.ac.uk/efo/EFO_0009433 |
tracheitis | http://www.ebi.ac.uk/efo/EFO_0007518 | http://purl.obolibrary.org/obo/MONDO_0002567 |
laryngotracheitis | http://purl.obolibrary.org/obo/MONDO_0000263 | http://www.ebi.ac.uk/efo/EFO_0007518 |
pleural disorder | http://purl.obolibrary.org/obo/MONDO_0002037 | http://www.ebi.ac.uk/efo/EFO_0009433 |
pneumothorax | http://purl.obolibrary.org/obo/MONDO_0002076 | http://purl.obolibrary.org/obo/MONDO_0002037 |
familial spontaneous pneumothorax | http://purl.obolibrary.org/obo/MONDO_0008259 | http://purl.obolibrary.org/obo/MONDO_0002076 |
hemopneumothorax | http://www.ebi.ac.uk/efo/EFO_1000963 | http://purl.obolibrary.org/obo/MONDO_0002076 |
pleural empyema | http://www.ebi.ac.uk/efo/EFO_0009680 | http://purl.obolibrary.org/obo/MONDO_0002037 |
tracheobronchitis | http://purl.obolibrary.org/obo/MONDO_0021925 | http://www.ebi.ac.uk/efo/EFO_0009433 |
diaphragm disease | http://www.ebi.ac.uk/efo/EFO_0007233 | http://www.ebi.ac.uk/efo/EFO_0000684 |
Pericardial and diaphragmatic defect | http://www.orpha.net/ORDO/Orphanet_2847 | http://www.ebi.ac.uk/efo/EFO_0007233 |
diaphragmatic eventration | http://www.ebi.ac.uk/efo/EFO_1000898 | http://www.ebi.ac.uk/efo/EFO_0007233 |
rhinoscleroma | http://www.ebi.ac.uk/efo/EFO_0007470 | http://www.ebi.ac.uk/efo/EFO_0000684 |
scarlet fever | http://www.ebi.ac.uk/efo/EFO_0007477 | http://www.ebi.ac.uk/efo/EFO_0000684 |
Middle East respiratory syndrome | http://purl.obolibrary.org/obo/MONDO_0100116 | http://www.ebi.ac.uk/efo/EFO_0000684 |
whooping cough | http://www.ebi.ac.uk/efo/EFO_0000650 | http://www.ebi.ac.uk/efo/EFO_0000684 |
severe acute respiratory syndrome | http://www.ebi.ac.uk/efo/EFO_0000694 | http://www.ebi.ac.uk/efo/EFO_0000684 |
respiratory tract infectious disorder | http://purl.obolibrary.org/obo/MONDO_0024355 | http://www.ebi.ac.uk/efo/EFO_0000684 |
viral respiratory tract infection | http://purl.obolibrary.org/obo/MONDO_0024352 | http://purl.obolibrary.org/obo/MONDO_0024355 |
Respiratory Syncytial Virus Infection | http://www.ebi.ac.uk/efo/EFO_1001413 | http://purl.obolibrary.org/obo/MONDO_0024352 |
influenza | http://www.ebi.ac.uk/efo/EFO_0007328 | http://purl.obolibrary.org/obo/MONDO_0024352 |
swine influenza | http://www.ebi.ac.uk/efo/EFO_0005226 | http://www.ebi.ac.uk/efo/EFO_0007328 |
influenza A (H1N1) | http://www.ebi.ac.uk/efo/EFO_1001488 | http://www.ebi.ac.uk/efo/EFO_0005226 |
avian influenza | http://www.ebi.ac.uk/efo/EFO_0005222 | http://www.ebi.ac.uk/efo/EFO_0007328 |
laryngeal tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007337 | http://purl.obolibrary.org/obo/MONDO_0024355 |
autoimmune interstitial lung disease-arthritis syndrome | http://purl.obolibrary.org/obo/MONDO_0014629 | http://www.ebi.ac.uk/efo/EFO_0000684 |
Genetic respiratory or mediastinal malformation | http://www.orpha.net/ORDO/Orphanet_183554 | http://www.ebi.ac.uk/efo/EFO_0000684 |
Non-syndromic respiratory or mediastinal malformation | http://www.orpha.net/ORDO/Orphanet_108993 | http://www.orpha.net/ORDO/Orphanet_183554 |
Tracheo-esophageal fistula - hypospadias | http://www.orpha.net/ORDO/Orphanet_2042 | http://www.orpha.net/ORDO/Orphanet_108993 |
Congenital pulmonary lymphangiectasia | http://www.orpha.net/ORDO/Orphanet_2414 | http://www.orpha.net/ORDO/Orphanet_108993 |
Familial primary pulmonary hypoplasia | http://www.orpha.net/ORDO/Orphanet_2257 | http://www.orpha.net/ORDO/Orphanet_108993 |
Fetal akinesia deformation sequence | http://www.orpha.net/ORDO/Orphanet_994 | http://www.orpha.net/ORDO/Orphanet_108993 |
Lung agenesis - heart defect - thumb anomalies | http://www.orpha.net/ORDO/Orphanet_1120 | http://www.orpha.net/ORDO/Orphanet_108993 |
Congenital tracheomalacia | http://www.orpha.net/ORDO/Orphanet_95430 | http://www.orpha.net/ORDO/Orphanet_108993 |
Lethal congenital contracture syndrome type 1 | http://www.orpha.net/ORDO/Orphanet_1486 | http://www.orpha.net/ORDO/Orphanet_108993 |
Congenital lobar emphysema | http://www.orpha.net/ORDO/Orphanet_1928 | http://www.orpha.net/ORDO/Orphanet_108993 |
sleep apnea | http://www.ebi.ac.uk/efo/EFO_0003877 | http://www.ebi.ac.uk/efo/EFO_0000684 |
upper respiratory tract disorder | http://purl.obolibrary.org/obo/MONDO_0004867 | http://www.ebi.ac.uk/efo/EFO_0000684 |
pharyngitis | http://purl.obolibrary.org/obo/MONDO_0002258 | http://purl.obolibrary.org/obo/MONDO_0004867 |
laryngeal disease | http://www.ebi.ac.uk/efo/EFO_0009673 | http://purl.obolibrary.org/obo/MONDO_0004867 |
spasmodic dystonia | http://purl.obolibrary.org/obo/MONDO_0000485 | http://www.ebi.ac.uk/efo/EFO_0009673 |
laryngitis | http://purl.obolibrary.org/obo/MONDO_0002647 | http://www.ebi.ac.uk/efo/EFO_0009673 |
chronic laryngitis | http://purl.obolibrary.org/obo/MONDO_0001369 | http://purl.obolibrary.org/obo/MONDO_0002647 |
voice disorders | http://www.ebi.ac.uk/efo/EFO_0009692 | http://www.ebi.ac.uk/efo/EFO_0009673 |
respiratory or thoracic malformation | http://purl.obolibrary.org/obo/MONDO_0020001 | http://www.ebi.ac.uk/efo/EFO_0000684 |
thoracic malformation | http://purl.obolibrary.org/obo/MONDO_0015929 | http://purl.obolibrary.org/obo/MONDO_0020001 |
acropectorovertebral dysplasia | http://purl.obolibrary.org/obo/MONDO_0007058 | http://purl.obolibrary.org/obo/MONDO_0015929 |
respiratory malformation | http://purl.obolibrary.org/obo/MONDO_0015930 | http://purl.obolibrary.org/obo/MONDO_0020001 |
Young syndrome | http://purl.obolibrary.org/obo/MONDO_0010220 | http://www.ebi.ac.uk/efo/EFO_0000684 |
cystic fibrosis | http://purl.obolibrary.org/obo/MONDO_0009061 | http://www.ebi.ac.uk/efo/EFO_0000684 |
allergic respiratory disease | http://purl.obolibrary.org/obo/MONDO_0000771 | http://www.ebi.ac.uk/efo/EFO_0000684 |
allergic bronchopulmonary aspergillosis | http://www.ebi.ac.uk/efo/EFO_0007140 | http://purl.obolibrary.org/obo/MONDO_0000771 |
Nasal Septal Perforation | http://www.ebi.ac.uk/efo/EFO_1001813 | http://www.ebi.ac.uk/efo/EFO_0000684 |
respiratory aspiration | http://www.ebi.ac.uk/efo/EFO_1001839 | http://www.ebi.ac.uk/efo/EFO_0000684 |
respiratory paralysis | http://www.ebi.ac.uk/efo/EFO_1001840 | http://www.ebi.ac.uk/efo/EFO_0000684 |
pulmonary arterial hypertension | http://www.ebi.ac.uk/efo/EFO_0001361 | http://www.ebi.ac.uk/efo/EFO_0000684 |
idiopathic and/or familial pulmonary arterial hypertension | http://purl.obolibrary.org/obo/MONDO_0008347 | http://www.ebi.ac.uk/efo/EFO_0001361 |
heritable pulmonary arterial hypertension | http://purl.obolibrary.org/obo/MONDO_0017148 | http://purl.obolibrary.org/obo/MONDO_0008347 |
pulmonary venoocclusive disease | http://purl.obolibrary.org/obo/MONDO_0009937 | http://purl.obolibrary.org/obo/MONDO_0017148 |
pulmonary venoocclusive disease 2 | http://purl.obolibrary.org/obo/MONDO_0009329 | http://purl.obolibrary.org/obo/MONDO_0009937 |
Idiopathic and/or familial pulmonary arterial hypertension | http://www.orpha.net/ORDO/Orphanet_422 | http://purl.obolibrary.org/obo/MONDO_0017148 |
Idiopathic pulmonary arterial hypertension | http://www.orpha.net/ORDO/Orphanet_275766 | http://www.orpha.net/ORDO/Orphanet_422 |
Heritable pulmonary arterial hypertension | http://www.orpha.net/ORDO/Orphanet_275777 | http://www.orpha.net/ORDO/Orphanet_422 |
idiopathic pulmonary arterial hypertension | http://purl.obolibrary.org/obo/MONDO_0017147 | http://purl.obolibrary.org/obo/MONDO_0008347 |
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis | http://www.ebi.ac.uk/efo/EFO_0009199 | http://www.ebi.ac.uk/efo/EFO_0001361 |
Pulmonary venoocclusive disease | http://www.orpha.net/ORDO/Orphanet_31837 | http://www.ebi.ac.uk/efo/EFO_0009199 |
Pulmonary capillary hemangiomatosis | http://www.orpha.net/ORDO/Orphanet_199241 | http://www.ebi.ac.uk/efo/EFO_0009199 |
Pulmonary arterial hypertension associated with another disease | http://www.ebi.ac.uk/efo/EFO_0009193 | http://www.ebi.ac.uk/efo/EFO_0001361 |
Pulmonary arterial hypertension associated with congenital heart disease | http://www.ebi.ac.uk/efo/EFO_0009054 | http://www.ebi.ac.uk/efo/EFO_0009193 |
Pulmonary arterial hypertension associated with HIV infection | http://www.ebi.ac.uk/efo/EFO_0009194 | http://www.ebi.ac.uk/efo/EFO_0009193 |
Pulmonary arterial hypertension associated with schistosomiasis | http://www.ebi.ac.uk/efo/EFO_0009198 | http://www.ebi.ac.uk/efo/EFO_0009193 |
Pulmonary arterial hypertension associated with portal hypertension | http://www.ebi.ac.uk/efo/EFO_0009197 | http://www.ebi.ac.uk/efo/EFO_0009193 |
Pulmonary arterial hypertension associated with connective tissue disease | http://www.ebi.ac.uk/efo/EFO_0009196 | http://www.ebi.ac.uk/efo/EFO_0009193 |
Pulmonary arterial hypertension associated with chronic hemolytic anemia | http://www.ebi.ac.uk/efo/EFO_0009195 | http://www.ebi.ac.uk/efo/EFO_0009193 |
Drug- or toxin-induced pulmonary arterial hypertension | http://www.ebi.ac.uk/efo/EFO_0009192 | http://www.ebi.ac.uk/efo/EFO_0001361 |
Siegler-Brewer-Carey syndrome | http://purl.obolibrary.org/obo/MONDO_0017849 | http://www.ebi.ac.uk/efo/EFO_0000684 |
respiratory toxicity | http://www.ebi.ac.uk/efo/EFO_0011060 | http://www.ebi.ac.uk/efo/EFO_0000684 |
Rare genetic respiratory disease | http://www.orpha.net/ORDO/Orphanet_156610 | http://www.ebi.ac.uk/efo/EFO_0000684 |
Pulmonary alveolar microlithiasis | http://www.orpha.net/ORDO/Orphanet_60025 | http://www.orpha.net/ORDO/Orphanet_156610 |
Syndromic multisystem autoimmune disease due to Itch deficiency | http://www.orpha.net/ORDO/Orphanet_228426 | http://www.orpha.net/ORDO/Orphanet_156610 |
Genetic interstitial lung disease | http://www.orpha.net/ORDO/Orphanet_264992 | http://www.orpha.net/ORDO/Orphanet_156610 |
Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome | http://www.orpha.net/ORDO/Orphanet_306504 | http://www.orpha.net/ORDO/Orphanet_264992 |
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement | http://www.orpha.net/ORDO/Orphanet_221043 | http://www.orpha.net/ORDO/Orphanet_264992 |
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies | http://www.orpha.net/ORDO/Orphanet_100049 | http://www.orpha.net/ORDO/Orphanet_264992 |
Congenital pulmonary alveolar proteinosis | http://www.orpha.net/ORDO/Orphanet_264675 | http://www.orpha.net/ORDO/Orphanet_100049 |
Neonatal acute respiratory distress with surfactant metabolism deficiency | http://www.orpha.net/ORDO/Orphanet_217563 | http://www.orpha.net/ORDO/Orphanet_100049 |
Chronic respiratory distress with surfactant metabolism deficiency | http://www.orpha.net/ORDO/Orphanet_217566 | http://www.orpha.net/ORDO/Orphanet_264992 |
Congenital alveolar capillary dysplasia | http://www.orpha.net/ORDO/Orphanet_210122 | http://www.orpha.net/ORDO/Orphanet_264992 |
Familial spontaneous pneumothorax | http://www.orpha.net/ORDO/Orphanet_2903 | http://www.orpha.net/ORDO/Orphanet_156610 |
Lymphangioleiomyomatosis | http://www.orpha.net/ORDO/Orphanet_538 | http://www.orpha.net/ORDO/Orphanet_156610 |
Alpha-1-antichymotrypsin deficiency | http://www.orpha.net/ORDO/Orphanet_93594 | http://www.orpha.net/ORDO/Orphanet_156610 |
Primary ciliary dyskinesia | http://www.orpha.net/ORDO/Orphanet_244 | http://www.orpha.net/ORDO/Orphanet_156610 |
Genetic respiratory malformation | http://www.orpha.net/ORDO/Orphanet_183622 | http://www.orpha.net/ORDO/Orphanet_156610 |
Thoracolaryngopelvic dysplasia | http://www.orpha.net/ORDO/Orphanet_3317 | http://www.orpha.net/ORDO/Orphanet_183622 |
Growth delay - hydrocephaly - lung hypoplasia | http://www.orpha.net/ORDO/Orphanet_3035 | http://www.orpha.net/ORDO/Orphanet_183622 |
Alpha-1-antitrypsin deficiency | http://www.orpha.net/ORDO/Orphanet_60 | http://www.orpha.net/ORDO/Orphanet_156610 |
Obesity Hypoventilation Syndrome | http://www.ebi.ac.uk/efo/EFO_1001382 | http://www.ebi.ac.uk/efo/EFO_0000684 |
nervous system disease | http://www.ebi.ac.uk/efo/EFO_0000618 | http://www.ebi.ac.uk/efo/EFO_0000408 |
movement disorder | http://www.ebi.ac.uk/efo/EFO_0004280 | http://www.ebi.ac.uk/efo/EFO_0000618 |
extrapyramidal and movement disease | http://purl.obolibrary.org/obo/MONDO_0001815 | http://www.ebi.ac.uk/efo/EFO_0004280 |
Huntington disease-like 1 | http://purl.obolibrary.org/obo/MONDO_0011299 | http://www.ebi.ac.uk/efo/EFO_0004280 |
neuronal intranuclear inclusion disease | http://purl.obolibrary.org/obo/MONDO_0011327 | http://www.ebi.ac.uk/efo/EFO_0004280 |
chorea | http://www.ebi.ac.uk/efo/EFO_0004152 | http://www.ebi.ac.uk/efo/EFO_0004280 |
chorea gravidarum | http://www.ebi.ac.uk/efo/EFO_1001290 | http://www.ebi.ac.uk/efo/EFO_0004152 |
chorea, benign familial | http://purl.obolibrary.org/obo/MONDO_0008979 | http://www.ebi.ac.uk/efo/EFO_0004152 |
Huntington disease-like 3 | http://purl.obolibrary.org/obo/MONDO_0011487 | http://www.ebi.ac.uk/efo/EFO_0004280 |
multiple system atrophy | http://www.ebi.ac.uk/efo/EFO_1001050 | http://www.ebi.ac.uk/efo/EFO_0004280 |
striatonigral degeneration | http://purl.obolibrary.org/obo/MONDO_0003122 | http://www.ebi.ac.uk/efo/EFO_1001050 |
striatonigral degeneration, childhood-onset | http://purl.obolibrary.org/obo/MONDO_0014889 | http://purl.obolibrary.org/obo/MONDO_0003122 |
striatal degeneration, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0000211 | http://purl.obolibrary.org/obo/MONDO_0003122 |
autosomal dominant striatal neurodegeneration type 1 | http://purl.obolibrary.org/obo/MONDO_0012205 | http://purl.obolibrary.org/obo/MONDO_0000211 |
kuru | http://www.ebi.ac.uk/efo/EFO_1001008 | http://www.ebi.ac.uk/efo/EFO_0004280 |
spinal muscular atrophy-progressive myoclonic epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0008045 | http://www.ebi.ac.uk/efo/EFO_0004280 |
benign paroxysmal tonic upgaze of childhood with ataxia | http://purl.obolibrary.org/obo/MONDO_0008206 | http://www.ebi.ac.uk/efo/EFO_0004280 |
progressive non-fluent aphasia | http://purl.obolibrary.org/obo/MONDO_0015059 | http://www.ebi.ac.uk/efo/EFO_0004280 |
semantic dementia | http://purl.obolibrary.org/obo/MONDO_0010857 | http://purl.obolibrary.org/obo/MONDO_0015059 |
frontotemporal dementia, right temporal atrophy variant | http://purl.obolibrary.org/obo/MONDO_0017399 | http://purl.obolibrary.org/obo/MONDO_0010857 |
primary myoclonus | http://purl.obolibrary.org/obo/MONDO_0017651 | http://www.ebi.ac.uk/efo/EFO_0004280 |
Benign adult familial myoclonic epilepsy | http://www.orpha.net/ORDO/Orphanet_86814 | http://purl.obolibrary.org/obo/MONDO_0017651 |
myoclonus, familial | http://purl.obolibrary.org/obo/MONDO_0013981 | http://purl.obolibrary.org/obo/MONDO_0017651 |
myoclonus-dystonia syndrome | http://purl.obolibrary.org/obo/MONDO_0000903 | http://purl.obolibrary.org/obo/MONDO_0017651 |
Myoclonus-dystonia syndrome | http://www.orpha.net/ORDO/Orphanet_36899 | http://purl.obolibrary.org/obo/MONDO_0017651 |
Familial cortical myoclonus | http://www.orpha.net/ORDO/Orphanet_319189 | http://purl.obolibrary.org/obo/MONDO_0017651 |
hyperekplexia | http://purl.obolibrary.org/obo/MONDO_0017658 | http://www.ebi.ac.uk/efo/EFO_0004280 |
hereditary hyperekplexia | http://purl.obolibrary.org/obo/MONDO_0021022 | http://purl.obolibrary.org/obo/MONDO_0017658 |
motor stereotypies | http://purl.obolibrary.org/obo/MONDO_0017656 | http://www.ebi.ac.uk/efo/EFO_0004280 |
monogenic epilepsy | http://purl.obolibrary.org/obo/MONDO_0015653 | http://purl.obolibrary.org/obo/MONDO_0017656 |
ARX-related epileptic encephalopathy | http://purl.obolibrary.org/obo/MONDO_0015921 | http://purl.obolibrary.org/obo/MONDO_0015653 |
Infantile epileptic-dyskinetic encephalopathy | http://www.orpha.net/ORDO/Orphanet_364063 | http://purl.obolibrary.org/obo/MONDO_0015921 |
severe neonatal-onset encephalopathy with microcephaly | http://purl.obolibrary.org/obo/MONDO_0010397 | http://purl.obolibrary.org/obo/MONDO_0015653 |
focal epilepsy-intellectual disability-cerebro-cerebellar malformation | http://purl.obolibrary.org/obo/MONDO_0018125 | http://purl.obolibrary.org/obo/MONDO_0015653 |
infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | http://purl.obolibrary.org/obo/MONDO_0018314 | http://purl.obolibrary.org/obo/MONDO_0015653 |
Childhood absence epilepsy | http://www.orpha.net/ORDO/Orphanet_64280 | http://www.ebi.ac.uk/efo/EFO_0004280 |
dystonic disorder | http://purl.obolibrary.org/obo/MONDO_0003441 | http://www.ebi.ac.uk/efo/EFO_0004280 |
inherited dystonia | http://purl.obolibrary.org/obo/MONDO_0044807 | http://purl.obolibrary.org/obo/MONDO_0003441 |
torsion dystonia 7 | http://purl.obolibrary.org/obo/MONDO_0011200 | http://purl.obolibrary.org/obo/MONDO_0044807 |
isolated dystonia | http://purl.obolibrary.org/obo/MONDO_0015494 | http://purl.obolibrary.org/obo/MONDO_0044807 |
focal, segmental or multifocal dystonia | http://purl.obolibrary.org/obo/MONDO_0015990 | http://purl.obolibrary.org/obo/MONDO_0015494 |
dystonia 23 | http://purl.obolibrary.org/obo/MONDO_0013928 | http://purl.obolibrary.org/obo/MONDO_0015990 |
torsion dystonia 13 | http://purl.obolibrary.org/obo/MONDO_0011886 | http://purl.obolibrary.org/obo/MONDO_0015990 |
torsion dystonia 4 | http://purl.obolibrary.org/obo/MONDO_0007493 | http://purl.obolibrary.org/obo/MONDO_0015990 |
blepharospasm-oromandibular dystonia syndrome | http://purl.obolibrary.org/obo/MONDO_0019772 | http://purl.obolibrary.org/obo/MONDO_0015990 |
oromandibular dystonia | http://purl.obolibrary.org/obo/MONDO_0019771 | http://purl.obolibrary.org/obo/MONDO_0015990 |
torsion dystonia 2 | http://purl.obolibrary.org/obo/MONDO_0009141 | http://purl.obolibrary.org/obo/MONDO_0015990 |
torsion dystonia 17 | http://purl.obolibrary.org/obo/MONDO_0012895 | http://purl.obolibrary.org/obo/MONDO_0015990 |
dystonia 25 | http://purl.obolibrary.org/obo/MONDO_0014033 | http://purl.obolibrary.org/obo/MONDO_0015990 |
generalized isolated dystonia | http://purl.obolibrary.org/obo/MONDO_0018303 | http://purl.obolibrary.org/obo/MONDO_0015494 |
dystonia 21 | http://purl.obolibrary.org/obo/MONDO_0013813 | http://purl.obolibrary.org/obo/MONDO_0018303 |
torsion dystonia 6 | http://purl.obolibrary.org/obo/MONDO_0011264 | http://purl.obolibrary.org/obo/MONDO_0018303 |
early-onset generalized dystonia | http://purl.obolibrary.org/obo/MONDO_0100016 | http://purl.obolibrary.org/obo/MONDO_0018303 |
early-onset generalized limb-onset dystonia | http://purl.obolibrary.org/obo/MONDO_0007492 | http://purl.obolibrary.org/obo/MONDO_0100016 |
combined dystonia | http://purl.obolibrary.org/obo/MONDO_0020065 | http://purl.obolibrary.org/obo/MONDO_0044807 |
paroxysmal dystonia | http://purl.obolibrary.org/obo/MONDO_0016058 | http://purl.obolibrary.org/obo/MONDO_0020065 |
paroxysmal dyskinesia | http://purl.obolibrary.org/obo/MONDO_0015427 | http://purl.obolibrary.org/obo/MONDO_0016058 |
episodic kinesigenic dyskinesia | http://purl.obolibrary.org/obo/MONDO_0044202 | http://purl.obolibrary.org/obo/MONDO_0015427 |
episodic kinesigenic dyskinesia 1 | http://purl.obolibrary.org/obo/MONDO_0100352 | http://purl.obolibrary.org/obo/MONDO_0044202 |
childhood onset GLUT1 deficiency syndrome 2 | http://purl.obolibrary.org/obo/MONDO_0012805 | http://purl.obolibrary.org/obo/MONDO_0015427 |
paroxysmal nonkinesigenic dyskinesia | http://purl.obolibrary.org/obo/MONDO_0700088 | http://purl.obolibrary.org/obo/MONDO_0015427 |
paroxysmal nonkinesigenic dyskinesia 1 | http://purl.obolibrary.org/obo/MONDO_0700089 | http://purl.obolibrary.org/obo/MONDO_0700088 |
benign paroxysmal torticollis of infancy | http://purl.obolibrary.org/obo/MONDO_0019113 | http://purl.obolibrary.org/obo/MONDO_0016058 |
dystonia 9 | http://purl.obolibrary.org/obo/MONDO_0010983 | http://purl.obolibrary.org/obo/MONDO_0016058 |
persistent combined dystonia | http://purl.obolibrary.org/obo/MONDO_0018329 | http://purl.obolibrary.org/obo/MONDO_0020065 |
X-linked dystonia-parkinsonism | http://purl.obolibrary.org/obo/MONDO_0010747 | http://purl.obolibrary.org/obo/MONDO_0018329 |
hyperphenylalaninemia due to DNAJC12 deficiency | http://purl.obolibrary.org/obo/MONDO_0044304 | http://purl.obolibrary.org/obo/MONDO_0018329 |
dystonia 12 | http://purl.obolibrary.org/obo/MONDO_0007496 | http://purl.obolibrary.org/obo/MONDO_0018329 |
dystonia 16 | http://purl.obolibrary.org/obo/MONDO_0012789 | http://purl.obolibrary.org/obo/MONDO_0018329 |
dopa-responsive dystonia | http://purl.obolibrary.org/obo/MONDO_0016812 | http://purl.obolibrary.org/obo/MONDO_0018329 |
TH-deficient dopa-responsive dystonia | http://purl.obolibrary.org/obo/MONDO_0011551 | http://purl.obolibrary.org/obo/MONDO_0016812 |
dystonia 5 | http://purl.obolibrary.org/obo/MONDO_0007495 | http://purl.obolibrary.org/obo/MONDO_0016812 |
dopa-responsive dystonia due to sepiapterin reductase deficiency | http://purl.obolibrary.org/obo/MONDO_0012994 | http://purl.obolibrary.org/obo/MONDO_0016812 |
ataxia - telangiectasia variant | http://purl.obolibrary.org/obo/MONDO_0018266 | http://purl.obolibrary.org/obo/MONDO_0018329 |
combined cervical dystonia | http://purl.obolibrary.org/obo/MONDO_0018267 | http://purl.obolibrary.org/obo/MONDO_0018329 |
infantile epileptic-dyskinetic encephalopathy | http://purl.obolibrary.org/obo/MONDO_0018226 | http://purl.obolibrary.org/obo/MONDO_0018329 |
dystonia 28, childhood-onset | http://www.ebi.ac.uk/efo/EFO_0009301 | http://purl.obolibrary.org/obo/MONDO_0018329 |
focal dystonia | http://purl.obolibrary.org/obo/MONDO_0000477 | http://purl.obolibrary.org/obo/MONDO_0003441 |
cervical dystonia | http://purl.obolibrary.org/obo/MONDO_0000481 | http://purl.obolibrary.org/obo/MONDO_0000477 |
craniofacial dystonia | http://purl.obolibrary.org/obo/MONDO_0000486 | http://purl.obolibrary.org/obo/MONDO_0000477 |
multifocal dystonia | http://purl.obolibrary.org/obo/MONDO_0000478 | http://purl.obolibrary.org/obo/MONDO_0003441 |
generalized dystonia | http://purl.obolibrary.org/obo/MONDO_0000476 | http://purl.obolibrary.org/obo/MONDO_0003441 |
epilepsy with myoclonic absences | http://purl.obolibrary.org/obo/MONDO_0019487 | http://www.ebi.ac.uk/efo/EFO_0004280 |
inherited Creutzfeldt-Jakob disease | http://purl.obolibrary.org/obo/MONDO_0007403 | http://www.ebi.ac.uk/efo/EFO_0004280 |
Juvenile myoclonic epilepsy | http://www.orpha.net/ORDO/Orphanet_307 | http://www.ebi.ac.uk/efo/EFO_0004280 |
frontotemporal dementia with motor neuron disease | http://purl.obolibrary.org/obo/MONDO_0017161 | http://www.ebi.ac.uk/efo/EFO_0004280 |
frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | http://purl.obolibrary.org/obo/MONDO_0007105 | http://purl.obolibrary.org/obo/MONDO_0017161 |
frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | http://purl.obolibrary.org/obo/MONDO_0014641 | http://purl.obolibrary.org/obo/MONDO_0017161 |
behavioral variant of frontotemporal dementia | http://purl.obolibrary.org/obo/MONDO_0017160 | http://www.ebi.ac.uk/efo/EFO_0004280 |
Huntington disease | http://purl.obolibrary.org/obo/MONDO_0007739 | http://www.ebi.ac.uk/efo/EFO_0004280 |
juvenile Huntington disease | http://purl.obolibrary.org/obo/MONDO_0016621 | http://purl.obolibrary.org/obo/MONDO_0007739 |
cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0000437 | http://www.ebi.ac.uk/efo/EFO_0004280 |
hereditary cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0100310 | http://purl.obolibrary.org/obo/MONDO_0000437 |
autosomal recessive cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0015244 | http://purl.obolibrary.org/obo/MONDO_0100310 |
infantile-onset autosomal recessive nonprogressive cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0011950 | http://purl.obolibrary.org/obo/MONDO_0015244 |
autosomal recessive spinocerebellar ataxia 10 | http://purl.obolibrary.org/obo/MONDO_0013392 | http://purl.obolibrary.org/obo/MONDO_0015244 |
spinocerebellar ataxia, autosomal recessive 28 | http://purl.obolibrary.org/obo/MONDO_0032923 | http://purl.obolibrary.org/obo/MONDO_0015244 |
autosomal recessive congenital cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0020043 | http://purl.obolibrary.org/obo/MONDO_0015244 |
Cayman type cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0011025 | http://purl.obolibrary.org/obo/MONDO_0020043 |
Joubert syndrome and related disorders | http://purl.obolibrary.org/obo/MONDO_0015369 | http://purl.obolibrary.org/obo/MONDO_0020043 |
Joubert syndrome with orofaciodigital defect | http://www.orpha.net/ORDO/Orphanet_2754 | http://purl.obolibrary.org/obo/MONDO_0015369 |
Joubert syndrome with hepatic defect | http://www.orpha.net/ORDO/Orphanet_1454 | http://purl.obolibrary.org/obo/MONDO_0015369 |
autosomal recessive spinocerebellar ataxia 2 | http://purl.obolibrary.org/obo/MONDO_0008943 | http://purl.obolibrary.org/obo/MONDO_0020043 |
autosomal recessive metabolic cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0020044 | http://purl.obolibrary.org/obo/MONDO_0015244 |
familial isolated deficiency of vitamin E | http://purl.obolibrary.org/obo/MONDO_0010188 | http://purl.obolibrary.org/obo/MONDO_0020044 |
autosomal recessive ataxia due to PEX10 deficiency | http://purl.obolibrary.org/obo/MONDO_0016614 | http://purl.obolibrary.org/obo/MONDO_0020044 |
autosomal recessive cerebellar ataxia with late-onset spasticity | http://purl.obolibrary.org/obo/MONDO_0018129 | http://purl.obolibrary.org/obo/MONDO_0020044 |
autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome | http://purl.obolibrary.org/obo/MONDO_0018189 | http://purl.obolibrary.org/obo/MONDO_0020044 |
autosomal recessive spinocerebellar ataxia 13 | http://purl.obolibrary.org/obo/MONDO_0013905 | http://purl.obolibrary.org/obo/MONDO_0018189 |
autosomal recessive spinocerebellar ataxia 18 | http://purl.obolibrary.org/obo/MONDO_0014530 | http://purl.obolibrary.org/obo/MONDO_0018189 |
autosomal recessive degenerative and progressive cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0020046 | http://purl.obolibrary.org/obo/MONDO_0015244 |
early-onset cerebellar ataxia with retained tendon reflexes | http://purl.obolibrary.org/obo/MONDO_0008938 | http://purl.obolibrary.org/obo/MONDO_0020046 |
autosomal recessive syndromic cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0020047 | http://purl.obolibrary.org/obo/MONDO_0015244 |
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | http://purl.obolibrary.org/obo/MONDO_0011811 | http://purl.obolibrary.org/obo/MONDO_0020047 |
autosomal recessive spinocerebellar ataxia 11 | http://purl.obolibrary.org/obo/MONDO_0013645 | http://purl.obolibrary.org/obo/MONDO_0020047 |
autosomal recessive cerebellar ataxia-blindness-deafness syndrome | http://purl.obolibrary.org/obo/MONDO_0010061 | http://purl.obolibrary.org/obo/MONDO_0020047 |
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy | http://purl.obolibrary.org/obo/MONDO_0020771 | http://purl.obolibrary.org/obo/MONDO_0015244 |
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | http://purl.obolibrary.org/obo/MONDO_0011801 | http://purl.obolibrary.org/obo/MONDO_0020771 |
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | http://purl.obolibrary.org/obo/MONDO_0018996 | http://purl.obolibrary.org/obo/MONDO_0020771 |
autosomal recessive ataxia, Beauce type | http://purl.obolibrary.org/obo/MONDO_0012549 | http://purl.obolibrary.org/obo/MONDO_0015244 |
Charlevoix-Saguenay spastic ataxia | http://purl.obolibrary.org/obo/MONDO_0010041 | http://purl.obolibrary.org/obo/MONDO_0015244 |
autosomal recessive spinocerebellar ataxia 7 | http://purl.obolibrary.org/obo/MONDO_0012235 | http://purl.obolibrary.org/obo/MONDO_0015244 |
autosomal recessive spinocerebellar ataxia 14 | http://purl.obolibrary.org/obo/MONDO_0014159 | http://purl.obolibrary.org/obo/MONDO_0015244 |
X-linked cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0016612 | http://purl.obolibrary.org/obo/MONDO_0100310 |
Fragile X-associated tremor/ataxia syndrome | http://www.orpha.net/ORDO/Orphanet_93256 | http://purl.obolibrary.org/obo/MONDO_0016612 |
Ataxia-deafness-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_1188 | http://purl.obolibrary.org/obo/MONDO_0016612 |
X-linked non progressive cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0010404 | http://purl.obolibrary.org/obo/MONDO_0016612 |
juvenile myoclonic epilepsy | http://purl.obolibrary.org/obo/MONDO_0009696 | http://www.ebi.ac.uk/efo/EFO_0004280 |
Lafora disease | http://purl.obolibrary.org/obo/MONDO_0009697 | http://www.ebi.ac.uk/efo/EFO_0004280 |
Unverricht-Lundborg syndrome | http://purl.obolibrary.org/obo/MONDO_0009698 | http://www.ebi.ac.uk/efo/EFO_0004280 |
neuroacanthocytosis | http://purl.obolibrary.org/obo/MONDO_0016987 | http://www.ebi.ac.uk/efo/EFO_0004280 |
Huntington disease-like 2 | http://purl.obolibrary.org/obo/MONDO_0011671 | http://purl.obolibrary.org/obo/MONDO_0016987 |
chorea-acanthocytosis | http://purl.obolibrary.org/obo/MONDO_0008695 | http://purl.obolibrary.org/obo/MONDO_0016987 |
proximal myopathy with extrapyramidal signs | http://purl.obolibrary.org/obo/MONDO_0014300 | http://www.ebi.ac.uk/efo/EFO_0004280 |
Rare genetic movement disorder | http://www.orpha.net/ORDO/Orphanet_183521 | http://www.ebi.ac.uk/efo/EFO_0004280 |
Rare paroxysmal movement disorder | http://www.orpha.net/ORDO/Orphanet_306768 | http://www.orpha.net/ORDO/Orphanet_183521 |
Benign paroxysmal tonic upgaze of childhood with ataxia | http://www.orpha.net/ORDO/Orphanet_1179 | http://www.orpha.net/ORDO/Orphanet_306768 |
Paroxysmal dystonia | http://www.orpha.net/ORDO/Orphanet_200037 | http://www.orpha.net/ORDO/Orphanet_306768 |
Nocturnal Paroxysmal Dystonia | http://www.ebi.ac.uk/efo/EFO_1001381 | http://www.orpha.net/ORDO/Orphanet_200037 |
Benign paroxysmal torticollis of infancy | http://www.orpha.net/ORDO/Orphanet_71518 | http://www.orpha.net/ORDO/Orphanet_200037 |
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | http://www.orpha.net/ORDO/Orphanet_53583 | http://www.orpha.net/ORDO/Orphanet_200037 |
Paroxysmal dyskinesia | http://www.orpha.net/ORDO/Orphanet_1431 | http://www.orpha.net/ORDO/Orphanet_200037 |
Paroxysmal exertion-induced dyskinesia | http://www.orpha.net/ORDO/Orphanet_98811 | http://www.orpha.net/ORDO/Orphanet_1431 |
Infantile convulsions and choreoathetosis | http://www.orpha.net/ORDO/Orphanet_31709 | http://www.orpha.net/ORDO/Orphanet_1431 |
Familial dyskinesia and facial myokymia | http://www.orpha.net/ORDO/Orphanet_324588 | http://www.orpha.net/ORDO/Orphanet_306768 |
Motor stereotypies | http://www.orpha.net/ORDO/Orphanet_306765 | http://www.orpha.net/ORDO/Orphanet_183521 |
Neurodegenerative disease with chorea | http://www.orpha.net/ORDO/Orphanet_306719 | http://www.orpha.net/ORDO/Orphanet_183521 |
Benign familial chorea | http://www.orpha.net/ORDO/Orphanet_1429 | http://www.orpha.net/ORDO/Orphanet_306719 |
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | http://www.orpha.net/ORDO/Orphanet_369847 | http://www.orpha.net/ORDO/Orphanet_183521 |
Hereditary hyperekplexia | http://www.orpha.net/ORDO/Orphanet_3197 | http://www.orpha.net/ORDO/Orphanet_183521 |
Rare genetic dystonia | http://www.orpha.net/ORDO/Orphanet_391799 | http://www.orpha.net/ORDO/Orphanet_183521 |
Combined dystonia | http://www.orpha.net/ORDO/Orphanet_98203 | http://www.orpha.net/ORDO/Orphanet_391799 |
Persistent combined dystonia | http://www.orpha.net/ORDO/Orphanet_391711 | http://www.orpha.net/ORDO/Orphanet_98203 |
Combined cervical dystonia | http://www.orpha.net/ORDO/Orphanet_370114 | http://www.orpha.net/ORDO/Orphanet_391711 |
Ataxia-telangiectasia variant | http://www.orpha.net/ORDO/Orphanet_370109 | http://www.orpha.net/ORDO/Orphanet_391711 |
Rapid-onset dystonia-parkinsonism | http://www.orpha.net/ORDO/Orphanet_71517 | http://www.orpha.net/ORDO/Orphanet_391711 |
Dopa-responsive dystonia | http://www.orpha.net/ORDO/Orphanet_255 | http://www.orpha.net/ORDO/Orphanet_391711 |
Autosomal recessive dopa-responsive dystonia | http://www.orpha.net/ORDO/Orphanet_101150 | http://www.orpha.net/ORDO/Orphanet_255 |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | http://www.orpha.net/ORDO/Orphanet_70594 | http://www.orpha.net/ORDO/Orphanet_255 |
Dystonia 16 | http://www.orpha.net/ORDO/Orphanet_210571 | http://www.orpha.net/ORDO/Orphanet_391711 |
Brain dopamine-serotonin vesicular transport disease | http://www.orpha.net/ORDO/Orphanet_352649 | http://www.orpha.net/ORDO/Orphanet_391711 |
Infantile dystonia-parkinsonism | http://www.orpha.net/ORDO/Orphanet_238455 | http://www.orpha.net/ORDO/Orphanet_391711 |
Adult-onset dystonia-parkinsonism | http://www.orpha.net/ORDO/Orphanet_199351 | http://www.orpha.net/ORDO/Orphanet_391711 |
Rare disorder with dystonia and other neurologic or systemic manifestation | http://www.orpha.net/ORDO/Orphanet_370106 | http://www.orpha.net/ORDO/Orphanet_391799 |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | http://www.orpha.net/ORDO/Orphanet_369939 | http://www.orpha.net/ORDO/Orphanet_370106 |
Developmental malformations - deafness - dystonia | http://www.orpha.net/ORDO/Orphanet_79107 | http://www.orpha.net/ORDO/Orphanet_370106 |
Isolated dystonia | http://www.orpha.net/ORDO/Orphanet_156159 | http://www.orpha.net/ORDO/Orphanet_391799 |
Generalized isolated dystonia | http://www.orpha.net/ORDO/Orphanet_376724 | http://www.orpha.net/ORDO/Orphanet_156159 |
Primary dystonia, DYT6 type | http://www.orpha.net/ORDO/Orphanet_98806 | http://www.orpha.net/ORDO/Orphanet_376724 |
Primary dystonia, DYT21 type | http://www.orpha.net/ORDO/Orphanet_306734 | http://www.orpha.net/ORDO/Orphanet_376724 |
Early-onset generalized limb-onset dystonia | http://www.orpha.net/ORDO/Orphanet_256 | http://www.orpha.net/ORDO/Orphanet_376724 |
Focal, segmental or multifocal dystonia | http://www.orpha.net/ORDO/Orphanet_1866 | http://www.orpha.net/ORDO/Orphanet_156159 |
Primary dystonia, DYT13 type | http://www.orpha.net/ORDO/Orphanet_98807 | http://www.orpha.net/ORDO/Orphanet_1866 |
Primary dystonia, DYT4 type | http://www.orpha.net/ORDO/Orphanet_98805 | http://www.orpha.net/ORDO/Orphanet_1866 |
Blepharospasm - oromandibular dystonia | http://www.orpha.net/ORDO/Orphanet_93964 | http://www.orpha.net/ORDO/Orphanet_1866 |
Oromandibular dystonia | http://www.orpha.net/ORDO/Orphanet_93958 | http://www.orpha.net/ORDO/Orphanet_1866 |
Benign essential blepharospasm | http://www.orpha.net/ORDO/Orphanet_93955 | http://www.orpha.net/ORDO/Orphanet_1866 |
Truncal dystonia | http://www.orpha.net/ORDO/Orphanet_93956 | http://www.orpha.net/ORDO/Orphanet_1866 |
Limb dystonia | http://www.orpha.net/ORDO/Orphanet_93957 | http://www.orpha.net/ORDO/Orphanet_1866 |
Autosomal dominant focal dystonia, DYT25 | http://www.orpha.net/ORDO/Orphanet_329466 | http://www.orpha.net/ORDO/Orphanet_1866 |
Cranio-cervical dystonia with laryngeal and upper-limb involvement | http://www.ebi.ac.uk/efo/EFO_0009040 | http://www.orpha.net/ORDO/Orphanet_1866 |
Rare genetic tremor disorder | http://www.orpha.net/ORDO/Orphanet_307061 | http://www.orpha.net/ORDO/Orphanet_183521 |
Sensorineural hearing loss - early graying - essential tremor | http://www.orpha.net/ORDO/Orphanet_66633 | http://www.orpha.net/ORDO/Orphanet_307061 |
Hereditary geniospasm | http://www.orpha.net/ORDO/Orphanet_53372 | http://www.orpha.net/ORDO/Orphanet_307061 |
Miscellaneous movement disorder due to genetic neurodegenerative disease | http://www.orpha.net/ORDO/Orphanet_307058 | http://www.orpha.net/ORDO/Orphanet_183521 |
Neuronal intranuclear inclusion disease | http://www.orpha.net/ORDO/Orphanet_2289 | http://www.orpha.net/ORDO/Orphanet_307058 |
Frontotemporal neurodegeneration with movement disorder | http://www.orpha.net/ORDO/Orphanet_306708 | http://www.orpha.net/ORDO/Orphanet_307058 |
Corticobasal degeneration | http://www.orpha.net/ORDO/Orphanet_278 | http://www.orpha.net/ORDO/Orphanet_306708 |
Progressive non-fluent aphasia | http://www.orpha.net/ORDO/Orphanet_100070 | http://www.orpha.net/ORDO/Orphanet_306708 |
Behavioral variant of frontotemporal dementia | http://www.orpha.net/ORDO/Orphanet_275864 | http://www.orpha.net/ORDO/Orphanet_306708 |
Frontotemporal dementia with motor neuron disease | http://www.orpha.net/ORDO/Orphanet_275872 | http://www.orpha.net/ORDO/Orphanet_306708 |
Inherited Creutzfeldt-Jakob disease | http://www.orpha.net/ORDO/Orphanet_282166 | http://www.orpha.net/ORDO/Orphanet_307058 |
Neurodegeneration with brain iron accumulation | http://www.orpha.net/ORDO/Orphanet_385 | http://www.orpha.net/ORDO/Orphanet_307058 |
COASY protein-associated neurodegeneration | http://www.orpha.net/ORDO/Orphanet_397725 | http://www.orpha.net/ORDO/Orphanet_385 |
Neuroferritinopathy | http://www.orpha.net/ORDO/Orphanet_157846 | http://www.orpha.net/ORDO/Orphanet_385 |
Proximal myopathy with extrapyramidal signs | http://www.orpha.net/ORDO/Orphanet_401768 | http://www.orpha.net/ORDO/Orphanet_307058 |
Neuroacanthocytosis | http://www.orpha.net/ORDO/Orphanet_263440 | http://www.orpha.net/ORDO/Orphanet_307058 |
Choreoacanthocytosis | http://www.orpha.net/ORDO/Orphanet_2388 | http://www.orpha.net/ORDO/Orphanet_263440 |
Infantile bilateral striatal necrosis | http://www.orpha.net/ORDO/Orphanet_1576 | http://www.orpha.net/ORDO/Orphanet_307058 |
Familial infantile bilateral striatal necrosis | http://www.orpha.net/ORDO/Orphanet_225154 | http://www.orpha.net/ORDO/Orphanet_1576 |
Sporadic infantile bilateral striatal necrosis | http://www.orpha.net/ORDO/Orphanet_225147 | http://www.orpha.net/ORDO/Orphanet_1576 |
Bilateral striopallidodentate calcinosis | http://www.orpha.net/ORDO/Orphanet_1980 | http://www.orpha.net/ORDO/Orphanet_307058 |
Rare genetic parkinsonian disorder | http://www.orpha.net/ORDO/Orphanet_307052 | http://www.orpha.net/ORDO/Orphanet_183521 |
Rare parkinsonian syndrome due to genetic neurodegenerative disease | http://www.orpha.net/ORDO/Orphanet_307055 | http://www.orpha.net/ORDO/Orphanet_307052 |
Hemiparkinsonism-hemiatrophy syndrome | http://www.orpha.net/ORDO/Orphanet_306669 | http://www.orpha.net/ORDO/Orphanet_307055 |
Autosomal dominant striatal neurodegeneration | http://www.orpha.net/ORDO/Orphanet_228169 | http://www.orpha.net/ORDO/Orphanet_307055 |
Young adult-onset Parkinsonism | http://www.orpha.net/ORDO/Orphanet_2828 | http://www.orpha.net/ORDO/Orphanet_307055 |
Atypical juvenile parkinsonism | http://www.orpha.net/ORDO/Orphanet_391411 | http://www.orpha.net/ORDO/Orphanet_307055 |
Hereditary late-onset Parkinson disease | http://www.orpha.net/ORDO/Orphanet_411602 | http://www.orpha.net/ORDO/Orphanet_307055 |
Parkinsonian-pyramidal syndrome | http://www.orpha.net/ORDO/Orphanet_171695 | http://www.orpha.net/ORDO/Orphanet_307055 |
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | http://www.orpha.net/ORDO/Orphanet_309854 | http://www.orpha.net/ORDO/Orphanet_307055 |
Familial congenital mirror movements | http://www.orpha.net/ORDO/Orphanet_238722 | http://www.orpha.net/ORDO/Orphanet_183521 |
Mesial temporal lobe epilepsy with hippocampal sclerosis | http://www.orpha.net/ORDO/Orphanet_99701 | http://www.ebi.ac.uk/efo/EFO_0004280 |
essential tremor | http://www.ebi.ac.uk/efo/EFO_0003108 | http://www.ebi.ac.uk/efo/EFO_0004280 |
tremor, hereditary essential, 6 | http://purl.obolibrary.org/obo/MONDO_0030027 | http://www.ebi.ac.uk/efo/EFO_0003108 |
corticobasal syndrome | http://purl.obolibrary.org/obo/MONDO_0018696 | http://www.ebi.ac.uk/efo/EFO_0004280 |
Whipple's disease | http://www.ebi.ac.uk/efo/EFO_0000775 | http://www.ebi.ac.uk/efo/EFO_0004280 |
familial congenital mirror movements | http://purl.obolibrary.org/obo/MONDO_0016558 | http://www.ebi.ac.uk/efo/EFO_0004280 |
mirror movements 1 | http://purl.obolibrary.org/obo/MONDO_0008002 | http://purl.obolibrary.org/obo/MONDO_0016558 |
hereditary geniospasm | http://purl.obolibrary.org/obo/MONDO_0008588 | http://www.ebi.ac.uk/efo/EFO_0004280 |
periodic limb movement disorder | http://www.ebi.ac.uk/efo/EFO_0007428 | http://www.ebi.ac.uk/efo/EFO_0004280 |
neurodegeneration with brain iron accumulation | http://purl.obolibrary.org/obo/MONDO_0018307 | http://www.ebi.ac.uk/efo/EFO_0004280 |
neuroferritinopathy | http://purl.obolibrary.org/obo/MONDO_0011638 | http://purl.obolibrary.org/obo/MONDO_0018307 |
Kufor-Rakeb syndrome | http://purl.obolibrary.org/obo/MONDO_0011706 | http://purl.obolibrary.org/obo/MONDO_0018307 |
parkinsonism due to ATP13A2 deficiency | http://purl.obolibrary.org/obo/MONDO_0017809 | http://purl.obolibrary.org/obo/MONDO_0011706 |
neurodegeneration with brain iron accumulation 8 | http://purl.obolibrary.org/obo/MONDO_0054764 | http://purl.obolibrary.org/obo/MONDO_0018307 |
PLA2G6-associated neurodegeneration | http://purl.obolibrary.org/obo/MONDO_0017998 | http://purl.obolibrary.org/obo/MONDO_0018307 |
autosomal recessive Parkinson disease 14 | http://purl.obolibrary.org/obo/MONDO_0013060 | http://purl.obolibrary.org/obo/MONDO_0017998 |
neurodegeneration with brain iron accumulation 2A | http://purl.obolibrary.org/obo/MONDO_0024457 | http://purl.obolibrary.org/obo/MONDO_0017998 |
neurodegeneration with brain iron accumulation 5 | http://purl.obolibrary.org/obo/MONDO_0010476 | http://purl.obolibrary.org/obo/MONDO_0018307 |
neurodegeneration with brain iron accumulation 6 | http://purl.obolibrary.org/obo/MONDO_0014290 | http://purl.obolibrary.org/obo/MONDO_0018307 |
Huntington disease-like syndrome due to C9ORF72 expansions | http://purl.obolibrary.org/obo/MONDO_0018425 | http://www.ebi.ac.uk/efo/EFO_0004280 |
neuropathy | http://www.ebi.ac.uk/efo/EFO_0004149 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Subacute Combined Degeneration | http://www.ebi.ac.uk/efo/EFO_1001428 | http://www.ebi.ac.uk/efo/EFO_0004149 |
autonomic dysreflexia | http://www.ebi.ac.uk/efo/EFO_1001762 | http://www.ebi.ac.uk/efo/EFO_0004149 |
neuromuscular disease | http://www.ebi.ac.uk/efo/EFO_1001902 | http://www.ebi.ac.uk/efo/EFO_0004149 |
myofibrillar myopathy 1 | http://purl.obolibrary.org/obo/MONDO_0011076 | http://www.ebi.ac.uk/efo/EFO_1001902 |
muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0020121 | http://www.ebi.ac.uk/efo/EFO_1001902 |
congenital muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0019950 | http://purl.obolibrary.org/obo/MONDO_0020121 |
megaconial type congenital muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0011246 | http://purl.obolibrary.org/obo/MONDO_0019950 |
congenital muscular dystrophy 1B | http://purl.obolibrary.org/obo/MONDO_0011486 | http://purl.obolibrary.org/obo/MONDO_0019950 |
Bethlem myopathy | http://purl.obolibrary.org/obo/MONDO_0008029 | http://purl.obolibrary.org/obo/MONDO_0019950 |
congenital merosin-deficient muscular dystrophy 1A | http://purl.obolibrary.org/obo/MONDO_0011925 | http://purl.obolibrary.org/obo/MONDO_0019950 |
congenital muscular dystrophy due to integrin alpha-7 deficiency | http://purl.obolibrary.org/obo/MONDO_0013177 | http://purl.obolibrary.org/obo/MONDO_0019950 |
congenital muscular dystrophy due to LMNA mutation | http://purl.obolibrary.org/obo/MONDO_0013178 | http://purl.obolibrary.org/obo/MONDO_0019950 |
rigid spine syndrome | http://purl.obolibrary.org/obo/MONDO_0019951 | http://purl.obolibrary.org/obo/MONDO_0019950 |
rigid spine muscular dystrophy 1 | http://purl.obolibrary.org/obo/MONDO_0011271 | http://purl.obolibrary.org/obo/MONDO_0019951 |
desmin-related myopathy with Mallory body-like inclusions | http://purl.obolibrary.org/obo/MONDO_0019398 | http://purl.obolibrary.org/obo/MONDO_0011271 |
congenital muscular dystrophy-infantile cataract-hypogonadism syndrome | http://purl.obolibrary.org/obo/MONDO_0009680 | http://purl.obolibrary.org/obo/MONDO_0019950 |
Ullrich congenital muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0000355 | http://purl.obolibrary.org/obo/MONDO_0019950 |
Ullrich congenital muscular dystrophy 2 | http://purl.obolibrary.org/obo/MONDO_0014654 | http://purl.obolibrary.org/obo/MONDO_0000355 |
congenital myopathy, Paradas type | http://purl.obolibrary.org/obo/MONDO_0016049 | http://purl.obolibrary.org/obo/MONDO_0019950 |
congenital muscular dystrophy caused by variation in POMGNT2 | http://purl.obolibrary.org/obo/MONDO_0700075 | http://purl.obolibrary.org/obo/MONDO_0019950 |
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | http://purl.obolibrary.org/obo/MONDO_0029135 | http://purl.obolibrary.org/obo/MONDO_0700075 |
congenital muscular dystrophy with hyperlaxity | http://purl.obolibrary.org/obo/MONDO_0018281 | http://purl.obolibrary.org/obo/MONDO_0019950 |
muscular dystrophy-dystroglycanopathy | http://purl.obolibrary.org/obo/MONDO_0018276 | http://purl.obolibrary.org/obo/MONDO_0019950 |
DPM3-CDG | http://purl.obolibrary.org/obo/MONDO_0013049 | http://purl.obolibrary.org/obo/MONDO_0018276 |
muscular dystrophy-dystroglycanopathy, type B | http://purl.obolibrary.org/obo/MONDO_0000172 | http://purl.obolibrary.org/obo/MONDO_0018276 |
muscular dystrophy-dystroglycanopathy type B5 | http://purl.obolibrary.org/obo/MONDO_0011688 | http://purl.obolibrary.org/obo/MONDO_0000172 |
muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | http://purl.obolibrary.org/obo/MONDO_0013159 | http://purl.obolibrary.org/obo/MONDO_0000172 |
muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 | http://purl.obolibrary.org/obo/MONDO_0033556 | http://purl.obolibrary.org/obo/MONDO_0000172 |
muscular dystrophy-dystroglycanopathy, type C | http://purl.obolibrary.org/obo/MONDO_0000173 | http://purl.obolibrary.org/obo/MONDO_0018276 |
autosomal recessive limb-girdle muscular dystrophy type 2N | http://purl.obolibrary.org/obo/MONDO_0013162 | http://purl.obolibrary.org/obo/MONDO_0000173 |
autosomal recessive limb-girdle muscular dystrophy type 2O | http://purl.obolibrary.org/obo/MONDO_0013161 | http://purl.obolibrary.org/obo/MONDO_0000173 |
autosomal recessive limb-girdle muscular dystrophy type 2P | http://purl.obolibrary.org/obo/MONDO_0013440 | http://purl.obolibrary.org/obo/MONDO_0000173 |
autosomal recessive limb-girdle muscular dystrophy type 2M | http://purl.obolibrary.org/obo/MONDO_0012699 | http://purl.obolibrary.org/obo/MONDO_0000173 |
autosomal recessive limb-girdle muscular dystrophy type 2U | http://purl.obolibrary.org/obo/MONDO_0014474 | http://purl.obolibrary.org/obo/MONDO_0000173 |
autosomal recessive limb-girdle muscular dystrophy type 2K | http://purl.obolibrary.org/obo/MONDO_0012248 | http://purl.obolibrary.org/obo/MONDO_0000173 |
autosomal recessive limb-girdle muscular dystrophy type 2T | http://purl.obolibrary.org/obo/MONDO_0014142 | http://purl.obolibrary.org/obo/MONDO_0000173 |
muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | http://www.ebi.ac.uk/efo/EFO_0010955 | http://purl.obolibrary.org/obo/MONDO_0000173 |
congenital muscular dystrophy with intellectual disability and severe epilepsy | http://purl.obolibrary.org/obo/MONDO_0014023 | http://purl.obolibrary.org/obo/MONDO_0018276 |
congenital muscular dystrophy with cerebellar involvement | http://purl.obolibrary.org/obo/MONDO_0018277 | http://purl.obolibrary.org/obo/MONDO_0018276 |
congenital muscular dystrophy with intellectual disability | http://purl.obolibrary.org/obo/MONDO_0018278 | http://purl.obolibrary.org/obo/MONDO_0018276 |
congenital muscular dystrophy without intellectual disability | http://purl.obolibrary.org/obo/MONDO_0018279 | http://purl.obolibrary.org/obo/MONDO_0018276 |
progressive muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0016106 | http://purl.obolibrary.org/obo/MONDO_0020121 |
myopathy, myofibrillar, 9, with early respiratory failure | http://purl.obolibrary.org/obo/MONDO_0011362 | http://purl.obolibrary.org/obo/MONDO_0016106 |
X-linked myopathy with excessive autophagy | http://purl.obolibrary.org/obo/MONDO_0010684 | http://purl.obolibrary.org/obo/MONDO_0016106 |
Duchenne and Becker muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0016899 | http://purl.obolibrary.org/obo/MONDO_0016106 |
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | http://www.orpha.net/ORDO/Orphanet_206546 | http://purl.obolibrary.org/obo/MONDO_0016899 |
Becker muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0010311 | http://purl.obolibrary.org/obo/MONDO_0016899 |
symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | http://purl.obolibrary.org/obo/MONDO_0016097 | http://purl.obolibrary.org/obo/MONDO_0016899 |
Emery-Dreifuss muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0016830 | http://purl.obolibrary.org/obo/MONDO_0016106 |
Autosomal recessive Emery-Dreifuss muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_98855 | http://purl.obolibrary.org/obo/MONDO_0016830 |
Autosomal dominant Emery-Dreifuss muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_98853 | http://purl.obolibrary.org/obo/MONDO_0016830 |
autosomal dominant Emery-Dreifuss muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0020336 | http://purl.obolibrary.org/obo/MONDO_0016830 |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0021569 | http://purl.obolibrary.org/obo/MONDO_0020336 |
scapuloperoneal myopathy | http://purl.obolibrary.org/obo/MONDO_0000727 | http://purl.obolibrary.org/obo/MONDO_0016830 |
MYH7-related late-onset scapuloperoneal muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0008409 | http://purl.obolibrary.org/obo/MONDO_0000727 |
X-linked myopathy with postural muscle atrophy | http://purl.obolibrary.org/obo/MONDO_0010401 | http://purl.obolibrary.org/obo/MONDO_0016830 |
X-linked Emery-Dreifuss muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0010680 | http://purl.obolibrary.org/obo/MONDO_0016830 |
autosomal recessive Emery-Dreifuss muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0008406 | http://purl.obolibrary.org/obo/MONDO_0016830 |
limb-girdle muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0016971 | http://purl.obolibrary.org/obo/MONDO_0016106 |
muscular dystrophy, limb-girdle, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0015151 | http://purl.obolibrary.org/obo/MONDO_0016971 |
autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | http://purl.obolibrary.org/obo/MONDO_0021018 | http://purl.obolibrary.org/obo/MONDO_0015151 |
autosomal dominant limb-girdle muscular dystrophy type 1H | http://purl.obolibrary.org/obo/MONDO_0013297 | http://purl.obolibrary.org/obo/MONDO_0015151 |
muscular dystrophy, limb-girdle, autosomal dominant 4 | http://purl.obolibrary.org/obo/MONDO_0029133 | http://purl.obolibrary.org/obo/MONDO_0015151 |
autosomal dominant limb-girdle muscular dystrophy type 1F | http://purl.obolibrary.org/obo/MONDO_0012034 | http://purl.obolibrary.org/obo/MONDO_0015151 |
autosomal dominant limb-girdle muscular dystrophy type 1G | http://purl.obolibrary.org/obo/MONDO_0012193 | http://purl.obolibrary.org/obo/MONDO_0015151 |
myofibrillar myopathy 3 | http://purl.obolibrary.org/obo/MONDO_0012215 | http://purl.obolibrary.org/obo/MONDO_0015151 |
spheroid body myopathy | http://purl.obolibrary.org/obo/MONDO_0008448 | http://purl.obolibrary.org/obo/MONDO_0012215 |
autosomal dominant limb-girdle muscular dystrophy type 1E (DES) | http://purl.obolibrary.org/obo/MONDO_0018098 | http://purl.obolibrary.org/obo/MONDO_0015151 |
autosomal recessive limb-girdle muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0015152 | http://purl.obolibrary.org/obo/MONDO_0016971 |
autosomal recessive limb-girdle muscular dystrophy type 2G | http://purl.obolibrary.org/obo/MONDO_0011170 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2E | http://purl.obolibrary.org/obo/MONDO_0011423 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2I | http://purl.obolibrary.org/obo/MONDO_0011787 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2D | http://purl.obolibrary.org/obo/MONDO_0011968 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2Q | http://purl.obolibrary.org/obo/MONDO_0013390 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2F | http://purl.obolibrary.org/obo/MONDO_0011028 | http://purl.obolibrary.org/obo/MONDO_0015152 |
muscular dystrophy, limb-girdle, autosomal recessive 23 | http://purl.obolibrary.org/obo/MONDO_0029136 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2L | http://purl.obolibrary.org/obo/MONDO_0012652 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2H | http://purl.obolibrary.org/obo/MONDO_0009683 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2A | http://purl.obolibrary.org/obo/MONDO_0009675 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2B | http://purl.obolibrary.org/obo/MONDO_0009676 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2C | http://purl.obolibrary.org/obo/MONDO_0009677 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2J | http://purl.obolibrary.org/obo/MONDO_0012127 | http://purl.obolibrary.org/obo/MONDO_0015152 |
autosomal recessive limb-girdle muscular dystrophy type 2Y | http://purl.obolibrary.org/obo/MONDO_0014900 | http://purl.obolibrary.org/obo/MONDO_0015152 |
distal myopathy | http://purl.obolibrary.org/obo/MONDO_0018949 | http://purl.obolibrary.org/obo/MONDO_0020121 |
MYH7-related skeletal myopathy | http://purl.obolibrary.org/obo/MONDO_0008050 | http://purl.obolibrary.org/obo/MONDO_0018949 |
autosomal recessive distal myopathy | http://purl.obolibrary.org/obo/MONDO_0016109 | http://purl.obolibrary.org/obo/MONDO_0018949 |
distal myopathy with anterior tibial onset | http://purl.obolibrary.org/obo/MONDO_0011721 | http://purl.obolibrary.org/obo/MONDO_0016109 |
Miyoshi myopathy | http://purl.obolibrary.org/obo/MONDO_0009685 | http://purl.obolibrary.org/obo/MONDO_0016109 |
Miyoshi muscular dystrophy 3 | http://purl.obolibrary.org/obo/MONDO_0013222 | http://purl.obolibrary.org/obo/MONDO_0009685 |
nebulin-related early-onset distal myopathy | http://purl.obolibrary.org/obo/MONDO_0018371 | http://purl.obolibrary.org/obo/MONDO_0016109 |
autosomal dominant distal myopathy | http://purl.obolibrary.org/obo/MONDO_0016108 | http://purl.obolibrary.org/obo/MONDO_0018949 |
distal myopathy, Welander type | http://purl.obolibrary.org/obo/MONDO_0011466 | http://purl.obolibrary.org/obo/MONDO_0016108 |
distal myopathy with posterior leg and anterior hand involvement | http://purl.obolibrary.org/obo/MONDO_0013550 | http://purl.obolibrary.org/obo/MONDO_0016108 |
tibial muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0010870 | http://purl.obolibrary.org/obo/MONDO_0016108 |
Finnish upper limb-onset distal myopathy | http://purl.obolibrary.org/obo/MONDO_0012410 | http://purl.obolibrary.org/obo/MONDO_0016108 |
myofibrillar myopathy 2 | http://purl.obolibrary.org/obo/MONDO_0012130 | http://purl.obolibrary.org/obo/MONDO_0016108 |
myofibrillar myopathy 4 | http://purl.obolibrary.org/obo/MONDO_0012277 | http://purl.obolibrary.org/obo/MONDO_0016108 |
distal myopathy with vocal cord weakness | http://purl.obolibrary.org/obo/MONDO_0018951 | http://purl.obolibrary.org/obo/MONDO_0016108 |
adult-onset distal myopathy due to VCP mutation | http://purl.obolibrary.org/obo/MONDO_0018006 | http://purl.obolibrary.org/obo/MONDO_0016108 |
KLHL9-related early-onset distal myopathy | http://purl.obolibrary.org/obo/MONDO_0018370 | http://purl.obolibrary.org/obo/MONDO_0016108 |
LAMA2-related muscular dystrophy | http://purl.obolibrary.org/obo/MONDO_0100228 | http://purl.obolibrary.org/obo/MONDO_0020121 |
neuromuscular junction disease | http://purl.obolibrary.org/obo/MONDO_0020124 | http://www.ebi.ac.uk/efo/EFO_1001902 |
acquired neuromuscular junction disease | http://purl.obolibrary.org/obo/MONDO_0020125 | http://purl.obolibrary.org/obo/MONDO_0020124 |
botulism | http://www.ebi.ac.uk/efo/EFO_0005542 | http://purl.obolibrary.org/obo/MONDO_0020125 |
iatrogenic botulism | http://purl.obolibrary.org/obo/MONDO_0016778 | http://www.ebi.ac.uk/efo/EFO_0005542 |
immune-mediated acquired neuromuscular junction disease | http://purl.obolibrary.org/obo/MONDO_0018743 | http://purl.obolibrary.org/obo/MONDO_0020125 |
Myasthenia gravis | http://www.ebi.ac.uk/efo/EFO_0004991 | http://purl.obolibrary.org/obo/MONDO_0018743 |
neonatal myasthenia gravis | http://www.ebi.ac.uk/efo/EFO_1001059 | http://www.ebi.ac.uk/efo/EFO_0004991 |
late-onset myasthenia gravis | http://www.ebi.ac.uk/efo/EFO_1001490 | http://www.ebi.ac.uk/efo/EFO_0004991 |
muscular channelopathy | http://www.ebi.ac.uk/efo/EFO_1001899 | http://www.ebi.ac.uk/efo/EFO_1001902 |
Morvan syndrome | http://www.ebi.ac.uk/efo/EFO_1001897 | http://www.ebi.ac.uk/efo/EFO_1001899 |
periodic paralysis with transient compartment-like syndrome | http://purl.obolibrary.org/obo/MONDO_0018344 | http://www.ebi.ac.uk/efo/EFO_1001899 |
malignant hyperthermia of anesthesia | http://purl.obolibrary.org/obo/MONDO_0018493 | http://www.ebi.ac.uk/efo/EFO_1001899 |
malignant hyperthermia, susceptibility to, 5 | http://purl.obolibrary.org/obo/MONDO_0011163 | http://purl.obolibrary.org/obo/MONDO_0018493 |
early-onset myopathy with fatal cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0012714 | http://www.ebi.ac.uk/efo/EFO_1001902 |
motor neuron disease | http://www.ebi.ac.uk/efo/EFO_0003782 | http://www.ebi.ac.uk/efo/EFO_1001902 |
Madras motor neuron disease | http://purl.obolibrary.org/obo/MONDO_0015307 | http://www.ebi.ac.uk/efo/EFO_0003782 |
acquired motor neuron disease | http://purl.obolibrary.org/obo/MONDO_0020129 | http://www.ebi.ac.uk/efo/EFO_0003782 |
Monomelic amyotrophy | http://www.ebi.ac.uk/efo/EFO_1001989 | http://purl.obolibrary.org/obo/MONDO_0020129 |
spinal muscular atrophy | http://www.ebi.ac.uk/efo/EFO_0008525 | http://www.ebi.ac.uk/efo/EFO_0003782 |
young adult-onset distal hereditary motor neuropathy | http://purl.obolibrary.org/obo/MONDO_0013947 | http://www.ebi.ac.uk/efo/EFO_0008525 |
autosomal recessive distal spinal muscular atrophy 1 | http://purl.obolibrary.org/obo/MONDO_0011436 | http://www.ebi.ac.uk/efo/EFO_0008525 |
autosomal recessive distal spinal muscular atrophy 2 | http://purl.obolibrary.org/obo/MONDO_0011585 | http://www.ebi.ac.uk/efo/EFO_0008525 |
distal spinal muscular atrophy type 3 | http://purl.obolibrary.org/obo/MONDO_0011771 | http://www.ebi.ac.uk/efo/EFO_0008525 |
autosomal dominant distal hereditary motor neuropathy | http://purl.obolibrary.org/obo/MONDO_0015362 | http://www.ebi.ac.uk/efo/EFO_0008525 |
distal hereditary motor neuropathy type 2 | http://purl.obolibrary.org/obo/MONDO_0015352 | http://purl.obolibrary.org/obo/MONDO_0015362 |
neuronopathy, distal hereditary motor, type 5A | http://purl.obolibrary.org/obo/MONDO_0015353 | http://purl.obolibrary.org/obo/MONDO_0015362 |
distal hereditary motor neuropathy type 7 | http://purl.obolibrary.org/obo/MONDO_0015355 | http://purl.obolibrary.org/obo/MONDO_0015362 |
autosomal dominant congenital benign spinal muscular atrophy | http://purl.obolibrary.org/obo/MONDO_0010839 | http://purl.obolibrary.org/obo/MONDO_0015362 |
neuronopathy, distal hereditary motor, type 1 | http://purl.obolibrary.org/obo/MONDO_0008451 | http://purl.obolibrary.org/obo/MONDO_0015362 |
proximal spinal muscular atrophy | http://purl.obolibrary.org/obo/MONDO_0019079 | http://www.ebi.ac.uk/efo/EFO_0008525 |
spinal muscular atrophy, type IV | http://purl.obolibrary.org/obo/MONDO_0010056 | http://purl.obolibrary.org/obo/MONDO_0019079 |
spinal muscular atrophy, type III | http://purl.obolibrary.org/obo/MONDO_0009672 | http://purl.obolibrary.org/obo/MONDO_0019079 |
spinal muscular atrophy, type II | http://purl.obolibrary.org/obo/MONDO_0009673 | http://purl.obolibrary.org/obo/MONDO_0019079 |
spinal muscular atrophy, type 1 | http://purl.obolibrary.org/obo/MONDO_0009669 | http://purl.obolibrary.org/obo/MONDO_0019079 |
autosomal dominant proximal spinal muscular atrophy | http://purl.obolibrary.org/obo/MONDO_0016224 | http://purl.obolibrary.org/obo/MONDO_0019079 |
lower motor neuron syndrome with late-adult onset | http://purl.obolibrary.org/obo/MONDO_0014025 | http://purl.obolibrary.org/obo/MONDO_0016224 |
adult-onset proximal spinal muscular atrophy, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0008453 | http://purl.obolibrary.org/obo/MONDO_0016224 |
autosomal dominant childhood-onset proximal spinal muscular atrophy | http://purl.obolibrary.org/obo/MONDO_0018190 | http://purl.obolibrary.org/obo/MONDO_0016224 |
autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | http://purl.obolibrary.org/obo/MONDO_0008026 | http://purl.obolibrary.org/obo/MONDO_0018190 |
autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | http://purl.obolibrary.org/obo/MONDO_0014121 | http://purl.obolibrary.org/obo/MONDO_0018190 |
Scapuloperoneal spinal muscular atrophy | http://www.ebi.ac.uk/efo/EFO_1001992 | http://www.ebi.ac.uk/efo/EFO_0008525 |
X-linked distal spinal muscular atrophy type 3 | http://purl.obolibrary.org/obo/MONDO_0010338 | http://www.ebi.ac.uk/efo/EFO_0008525 |
bulbospinal muscular atrophy | http://purl.obolibrary.org/obo/MONDO_0016113 | http://www.ebi.ac.uk/efo/EFO_0008525 |
bulbospinal muscular atrophy of childhood | http://purl.obolibrary.org/obo/MONDO_0016114 | http://purl.obolibrary.org/obo/MONDO_0016113 |
generalized bulbospinal muscular atrophy | http://purl.obolibrary.org/obo/MONDO_0016116 | http://purl.obolibrary.org/obo/MONDO_0016113 |
spinal atrophy-ophthalmoplegia-pyramidal syndrome | http://purl.obolibrary.org/obo/MONDO_0015250 | http://purl.obolibrary.org/obo/MONDO_0016116 |
autosomal recessive lower motor neuron disease with childhood onset | http://purl.obolibrary.org/obo/MONDO_0012608 | http://purl.obolibrary.org/obo/MONDO_0016116 |
bulbospinal muscular atrophy of adulthood | http://purl.obolibrary.org/obo/MONDO_0016115 | http://purl.obolibrary.org/obo/MONDO_0016113 |
Kennedy disease | http://purl.obolibrary.org/obo/MONDO_0010735 | http://purl.obolibrary.org/obo/MONDO_0016115 |
Proximal spinal muscular atrophy | http://www.orpha.net/ORDO/Orphanet_70 | http://www.ebi.ac.uk/efo/EFO_0008525 |
Proximal spinal muscular atrophy type 4 | http://www.orpha.net/ORDO/Orphanet_83420 | http://www.orpha.net/ORDO/Orphanet_70 |
Proximal spinal muscular atrophy type 3 | http://www.orpha.net/ORDO/Orphanet_83419 | http://www.orpha.net/ORDO/Orphanet_70 |
Proximal spinal muscular atrophy type 2 | http://www.orpha.net/ORDO/Orphanet_83418 | http://www.orpha.net/ORDO/Orphanet_70 |
spinal muscular atrophy, facioscapulohumeral type | http://purl.obolibrary.org/obo/MONDO_0008452 | http://www.ebi.ac.uk/efo/EFO_0008525 |
spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant | http://www.ebi.ac.uk/efo/EFO_0010264 | http://www.ebi.ac.uk/efo/EFO_0008525 |
amyotrophic lateral sclerosis | http://purl.obolibrary.org/obo/MONDO_0004976 | http://www.ebi.ac.uk/efo/EFO_0003782 |
sporadic amyotrophic lateral sclerosis | http://www.ebi.ac.uk/efo/EFO_0001357 | http://purl.obolibrary.org/obo/MONDO_0004976 |
familial amyotrophic lateral sclerosis | http://www.ebi.ac.uk/efo/EFO_0001356 | http://purl.obolibrary.org/obo/MONDO_0004976 |
amyotrophic lateral sclerosis type 18 | http://purl.obolibrary.org/obo/MONDO_0013891 | http://www.ebi.ac.uk/efo/EFO_0001356 |
amyotrophic lateral sclerosis type 4 | http://purl.obolibrary.org/obo/MONDO_0011223 | http://www.ebi.ac.uk/efo/EFO_0001356 |
juvenile amyotrophic lateral sclerosis | http://purl.obolibrary.org/obo/MONDO_0017593 | http://www.ebi.ac.uk/efo/EFO_0001356 |
amyotrophic lateral sclerosis type 2, juvenile | http://purl.obolibrary.org/obo/MONDO_0008780 | http://purl.obolibrary.org/obo/MONDO_0017593 |
Amyotrophic lateral sclerosis type 4 | http://www.orpha.net/ORDO/Orphanet_357043 | http://www.ebi.ac.uk/efo/EFO_0001356 |
amyotrophic lateral sclerosis, susceptibility to, 24 | http://purl.obolibrary.org/obo/MONDO_0054750 | http://www.ebi.ac.uk/efo/EFO_0001356 |
amyotrophic lateral sclerosis type 15 | http://purl.obolibrary.org/obo/MONDO_0010459 | http://www.ebi.ac.uk/efo/EFO_0001356 |
Juvenile amyotrophic lateral sclerosis | http://www.orpha.net/ORDO/Orphanet_300605 | http://www.ebi.ac.uk/efo/EFO_0001356 |
neuronopathy, distal hereditary motor | http://purl.obolibrary.org/obo/MONDO_0000075 | http://www.ebi.ac.uk/efo/EFO_0003782 |
neuronopathy, distal hereditary motor, type 5 | http://purl.obolibrary.org/obo/MONDO_0100350 | http://purl.obolibrary.org/obo/MONDO_0000075 |
hereditary motor neuron disease | http://purl.obolibrary.org/obo/MONDO_0024257 | http://www.ebi.ac.uk/efo/EFO_0003782 |
infantile-onset ascending hereditary spastic paralysis | http://purl.obolibrary.org/obo/MONDO_0011797 | http://purl.obolibrary.org/obo/MONDO_0024257 |
Hereditary motor and sensory neuropathy | http://www.orpha.net/ORDO/Orphanet_140450 | http://purl.obolibrary.org/obo/MONDO_0024257 |
Dejerine-Sottas syndrome | http://www.orpha.net/ORDO/Orphanet_64748 | http://www.orpha.net/ORDO/Orphanet_140450 |
Hereditary sensorimotor neuropathy with hyperelastic skin | http://www.orpha.net/ORDO/Orphanet_280598 | http://www.orpha.net/ORDO/Orphanet_140450 |
Polyneuropathy - hand defect | http://www.orpha.net/ORDO/Orphanet_2926 | http://www.orpha.net/ORDO/Orphanet_140450 |
X-linked recessive hereditary axonal motor and sensory neuropathy | http://www.orpha.net/ORDO/Orphanet_140462 | http://www.orpha.net/ORDO/Orphanet_140450 |
Autosomal dominant hereditary demyelinating motor and sensory neuropathy | http://www.orpha.net/ORDO/Orphanet_140453 | http://www.orpha.net/ORDO/Orphanet_140450 |
Hereditary thermosensitive neuropathy | http://www.orpha.net/ORDO/Orphanet_84093 | http://www.orpha.net/ORDO/Orphanet_140453 |
Hereditary neuropathy with liability to pressure palsies | http://www.orpha.net/ORDO/Orphanet_640 | http://www.orpha.net/ORDO/Orphanet_140453 |
Autosomal dominant slowed nerve conduction velocity | http://www.orpha.net/ORDO/Orphanet_140481 | http://www.orpha.net/ORDO/Orphanet_140453 |
Neuropathy with hearing impairment | http://www.orpha.net/ORDO/Orphanet_139512 | http://www.orpha.net/ORDO/Orphanet_140453 |
Roussy-Lévy syndrome | http://www.orpha.net/ORDO/Orphanet_3115 | http://www.orpha.net/ORDO/Orphanet_140453 |
Autosomal dominant hereditary axonal motor and sensory neuropathy | http://www.orpha.net/ORDO/Orphanet_140456 | http://www.orpha.net/ORDO/Orphanet_140450 |
Hereditary motor and sensory neuropathy type 6 | http://www.orpha.net/ORDO/Orphanet_90120 | http://www.orpha.net/ORDO/Orphanet_140456 |
neuropathy, hereditary motor and sensory, type vib | http://www.ebi.ac.uk/efo/EFO_0009075 | http://www.orpha.net/ORDO/Orphanet_90120 |
Hereditary motor and sensory neuropathy, Okinawa type | http://www.orpha.net/ORDO/Orphanet_90117 | http://www.orpha.net/ORDO/Orphanet_140456 |
Autosomal recessive hereditary demyelinating motor and sensory neuropathy | http://www.orpha.net/ORDO/Orphanet_140459 | http://www.orpha.net/ORDO/Orphanet_140450 |
Charcot-Marie-Tooth disease - deafness - intellectual disability | http://www.orpha.net/ORDO/Orphanet_90103 | http://www.orpha.net/ORDO/Orphanet_140459 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease | http://www.orpha.net/ORDO/Orphanet_268337 | http://www.orpha.net/ORDO/Orphanet_140450 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C | http://www.orpha.net/ORDO/Orphanet_369867 | http://www.orpha.net/ORDO/Orphanet_268337 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B | http://www.orpha.net/ORDO/Orphanet_254334 | http://www.orpha.net/ORDO/Orphanet_268337 |
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | http://www.orpha.net/ORDO/Orphanet_217055 | http://www.orpha.net/ORDO/Orphanet_268337 |
Axonal Charcot-Marie-Tooth disease with acrodystrophy | http://www.orpha.net/ORDO/Orphanet_90119 | http://www.orpha.net/ORDO/Orphanet_140450 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease | http://www.orpha.net/ORDO/Orphanet_90114 | http://www.orpha.net/ORDO/Orphanet_140450 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | http://www.orpha.net/ORDO/Orphanet_93114 | http://www.orpha.net/ORDO/Orphanet_90114 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C | http://www.orpha.net/ORDO/Orphanet_100045 | http://www.orpha.net/ORDO/Orphanet_90114 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | http://www.orpha.net/ORDO/Orphanet_100046 | http://www.orpha.net/ORDO/Orphanet_90114 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A | http://www.orpha.net/ORDO/Orphanet_100043 | http://www.orpha.net/ORDO/Orphanet_90114 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B | http://www.orpha.net/ORDO/Orphanet_100044 | http://www.orpha.net/ORDO/Orphanet_90114 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F | http://www.orpha.net/ORDO/Orphanet_352670 | http://www.orpha.net/ORDO/Orphanet_90114 |
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | http://www.orpha.net/ORDO/Orphanet_324585 | http://www.orpha.net/ORDO/Orphanet_90114 |
autosomal dominant intermediate Charcot-Marie-Tooth disease type G | http://www.ebi.ac.uk/efo/EFO_0010267 | http://www.orpha.net/ORDO/Orphanet_90114 |
Severe early-onset axonal neuropathy due to MFN2 deficiency | http://www.orpha.net/ORDO/Orphanet_90118 | http://www.orpha.net/ORDO/Orphanet_140450 |
distal hereditary motor neuropathy | http://purl.obolibrary.org/obo/MONDO_0018894 | http://purl.obolibrary.org/obo/MONDO_0024257 |
autosomal recessive distal hereditary motor neuropathy | http://purl.obolibrary.org/obo/MONDO_0015363 | http://purl.obolibrary.org/obo/MONDO_0018894 |
Autosomal dominant distal hereditary motor neuropathy | http://www.orpha.net/ORDO/Orphanet_140465 | http://purl.obolibrary.org/obo/MONDO_0018894 |
Distal hereditary motor neuropathy type 7 | http://www.orpha.net/ORDO/Orphanet_139589 | http://www.orpha.net/ORDO/Orphanet_140465 |
Distal hereditary motor neuropathy type 5 | http://www.orpha.net/ORDO/Orphanet_139536 | http://www.orpha.net/ORDO/Orphanet_140465 |
Distal hereditary motor neuropathy type 2 | http://www.orpha.net/ORDO/Orphanet_139525 | http://www.orpha.net/ORDO/Orphanet_140465 |
Distal hereditary motor neuropathy type 1 | http://www.orpha.net/ORDO/Orphanet_139518 | http://www.orpha.net/ORDO/Orphanet_140465 |
Autosomal dominant congenital benign spinal muscular atrophy | http://www.orpha.net/ORDO/Orphanet_1216 | http://www.orpha.net/ORDO/Orphanet_140465 |
Autosomal dominant spastic paraplegia type 17 | http://www.orpha.net/ORDO/Orphanet_100998 | http://www.orpha.net/ORDO/Orphanet_140465 |
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | http://www.orpha.net/ORDO/Orphanet_397744 | http://www.orpha.net/ORDO/Orphanet_140465 |
Autosomal recessive distal hereditary motor neuropathy | http://www.orpha.net/ORDO/Orphanet_140468 | http://purl.obolibrary.org/obo/MONDO_0018894 |
Spinal muscular atrophy with respiratory distress type 1 | http://www.orpha.net/ORDO/Orphanet_98920 | http://www.orpha.net/ORDO/Orphanet_140468 |
Young adult-onset distal hereditary motor neuropathy | http://www.orpha.net/ORDO/Orphanet_314485 | http://www.orpha.net/ORDO/Orphanet_140468 |
Distal spinal muscular atrophy type 3 | http://www.orpha.net/ORDO/Orphanet_139547 | http://www.orpha.net/ORDO/Orphanet_140468 |
X-linked distal hereditary motor neuropathy | http://purl.obolibrary.org/obo/MONDO_0018451 | http://purl.obolibrary.org/obo/MONDO_0018894 |
Spinal muscular atrophy with respiratory distress type 2 | http://www.orpha.net/ORDO/Orphanet_404521 | http://purl.obolibrary.org/obo/MONDO_0018451 |
spinal muscular atrophy with respiratory distress type 2 | http://purl.obolibrary.org/obo/MONDO_0018450 | http://purl.obolibrary.org/obo/MONDO_0018451 |
neurogenic scapuloperoneal syndrome, Kaeser type | http://purl.obolibrary.org/obo/MONDO_0008407 | http://purl.obolibrary.org/obo/MONDO_0024257 |
lateral sclerosis | http://purl.obolibrary.org/obo/MONDO_0018155 | http://purl.obolibrary.org/obo/MONDO_0024257 |
juvenile primary lateral sclerosis | http://purl.obolibrary.org/obo/MONDO_0011663 | http://purl.obolibrary.org/obo/MONDO_0018155 |
riboflavin transporter deficiency | http://purl.obolibrary.org/obo/MONDO_0008891 | http://purl.obolibrary.org/obo/MONDO_0024257 |
progressive bulbar palsy | http://www.ebi.ac.uk/efo/EFO_0003783 | http://purl.obolibrary.org/obo/MONDO_0008891 |
peripheral neuropathy | http://www.ebi.ac.uk/efo/EFO_0003100 | http://www.ebi.ac.uk/efo/EFO_1001902 |
autonomic neuropathy | http://purl.obolibrary.org/obo/MONDO_0001300 | http://www.ebi.ac.uk/efo/EFO_0003100 |
Horner syndrome | http://purl.obolibrary.org/obo/MONDO_0001294 | http://purl.obolibrary.org/obo/MONDO_0001300 |
diabetic autonomic neuropathy | http://purl.obolibrary.org/obo/MONDO_0001299 | http://purl.obolibrary.org/obo/MONDO_0001300 |
acquired peripheral neuropathy | http://purl.obolibrary.org/obo/MONDO_0015923 | http://www.ebi.ac.uk/efo/EFO_0003100 |
familial amyloid neuropathy | http://www.ebi.ac.uk/efo/EFO_0004129 | http://purl.obolibrary.org/obo/MONDO_0015923 |
ATTRV122I amyloidosis | http://purl.obolibrary.org/obo/MONDO_0019441 | http://www.ebi.ac.uk/efo/EFO_0004129 |
neuralgic amyotrophy | http://purl.obolibrary.org/obo/MONDO_0017362 | http://purl.obolibrary.org/obo/MONDO_0015923 |
polymyositis | http://www.ebi.ac.uk/efo/EFO_0003063 | http://purl.obolibrary.org/obo/MONDO_0015923 |
Juvenile Polymyositis | http://www.ebi.ac.uk/efo/EFO_1001988 | http://www.ebi.ac.uk/efo/EFO_0003063 |
acquired amyloid peripheral neuropathy | http://purl.obolibrary.org/obo/MONDO_0016179 | http://purl.obolibrary.org/obo/MONDO_0015923 |
AA amyloidosis | http://purl.obolibrary.org/obo/MONDO_0019439 | http://purl.obolibrary.org/obo/MONDO_0016179 |
AL amyloidosis | http://purl.obolibrary.org/obo/MONDO_0019438 | http://purl.obolibrary.org/obo/MONDO_0016179 |
Primary systemic amyloidosis | http://www.orpha.net/ORDO/Orphanet_314701 | http://purl.obolibrary.org/obo/MONDO_0019438 |
Primary localized amyloidosis | http://www.orpha.net/ORDO/Orphanet_314709 | http://purl.obolibrary.org/obo/MONDO_0019438 |
primary localized amyloidosis | http://purl.obolibrary.org/obo/MONDO_0017817 | http://purl.obolibrary.org/obo/MONDO_0019438 |
primary systemic amyloidosis | http://purl.obolibrary.org/obo/MONDO_0017816 | http://purl.obolibrary.org/obo/MONDO_0019438 |
chronic acquired demyelinating polyneuropathy | http://purl.obolibrary.org/obo/MONDO_0016169 | http://purl.obolibrary.org/obo/MONDO_0015923 |
cranial neuralgia | http://purl.obolibrary.org/obo/MONDO_0016374 | http://purl.obolibrary.org/obo/MONDO_0015923 |
acquired peripheral movement disorder | http://purl.obolibrary.org/obo/MONDO_0016375 | http://purl.obolibrary.org/obo/MONDO_0015923 |
genetic peripheral neuropathy | http://purl.obolibrary.org/obo/MONDO_0020127 | http://www.ebi.ac.uk/efo/EFO_0003100 |
carpal tunnel syndrome | http://www.ebi.ac.uk/efo/EFO_0004143 | http://purl.obolibrary.org/obo/MONDO_0020127 |
episodic ataxia type 1 | http://purl.obolibrary.org/obo/MONDO_0008047 | http://purl.obolibrary.org/obo/MONDO_0020127 |
Charcot-Marie-Tooth disease | http://purl.obolibrary.org/obo/MONDO_0015626 | http://purl.obolibrary.org/obo/MONDO_0020127 |
Charcot-Marie-Tooth disease type 3 | http://purl.obolibrary.org/obo/MONDO_0007790 | http://purl.obolibrary.org/obo/MONDO_0015626 |
axonal hereditary motor and sensory neuropathy | http://purl.obolibrary.org/obo/MONDO_0018775 | http://purl.obolibrary.org/obo/MONDO_0015626 |
autosomal dominant hereditary axonal motor and sensory neuropathy | http://purl.obolibrary.org/obo/MONDO_0015360 | http://purl.obolibrary.org/obo/MONDO_0018775 |
hereditary motor and sensory neuropathy, Okinawa type | http://purl.obolibrary.org/obo/MONDO_0011468 | http://purl.obolibrary.org/obo/MONDO_0015360 |
Charcot-Marie-Tooth disease type 5 | http://purl.obolibrary.org/obo/MONDO_0010877 | http://purl.obolibrary.org/obo/MONDO_0015360 |
hereditary motor and sensory neuropathy type 6 | http://purl.obolibrary.org/obo/MONDO_0019551 | http://purl.obolibrary.org/obo/MONDO_0018775 |
neuropathy, hereditary motor and sensory, type 6B | http://purl.obolibrary.org/obo/MONDO_0014671 | http://purl.obolibrary.org/obo/MONDO_0019551 |
autosomal recessive axonal hereditary motor and sensory neuropathy | http://purl.obolibrary.org/obo/MONDO_0019601 | http://purl.obolibrary.org/obo/MONDO_0018775 |
Charcot-Marie-Tooth disease axonal type 2P | http://purl.obolibrary.org/obo/MONDO_0013753 | http://purl.obolibrary.org/obo/MONDO_0019601 |
Charcot-Marie-Tooth disease type 2B1 | http://purl.obolibrary.org/obo/MONDO_0011569 | http://purl.obolibrary.org/obo/MONDO_0019601 |
Charcot-Marie-Tooth disease type 2B2 | http://purl.obolibrary.org/obo/MONDO_0011570 | http://purl.obolibrary.org/obo/MONDO_0019601 |
Charcot-Marie-Tooth disease axonal type 2K | http://purl.obolibrary.org/obo/MONDO_0011916 | http://purl.obolibrary.org/obo/MONDO_0019601 |
Charcot-Marie-Tooth disease axonal type 2H | http://purl.obolibrary.org/obo/MONDO_0011901 | http://purl.obolibrary.org/obo/MONDO_0019601 |
hereditary motor and sensory neuropathy with acrodystrophy | http://purl.obolibrary.org/obo/MONDO_0019550 | http://purl.obolibrary.org/obo/MONDO_0019601 |
severe early-onset axonal neuropathy due to MFN2 deficiency | http://purl.obolibrary.org/obo/MONDO_0019549 | http://purl.obolibrary.org/obo/MONDO_0019601 |
Autosomal recessive Charcot Marie Tooth disease type 2X | http://www.ebi.ac.uk/efo/EFO_1001983 | http://purl.obolibrary.org/obo/MONDO_0019601 |
Charcot-Marie-Tooth disease type 2R | http://purl.obolibrary.org/obo/MONDO_0014208 | http://purl.obolibrary.org/obo/MONDO_0019601 |
severe early-onset axonal neuropathy due to NEFL deficiency | http://purl.obolibrary.org/obo/MONDO_0016454 | http://purl.obolibrary.org/obo/MONDO_0019601 |
demyelinating hereditary motor and sensory neuropathy | http://purl.obolibrary.org/obo/MONDO_0018776 | http://purl.obolibrary.org/obo/MONDO_0015626 |
autosomal recessive hereditary demyelinating motor and sensory neuropathy | http://purl.obolibrary.org/obo/MONDO_0015361 | http://purl.obolibrary.org/obo/MONDO_0018776 |
Charcot-Marie-Tooth disease type 4 | http://purl.obolibrary.org/obo/MONDO_0018995 | http://purl.obolibrary.org/obo/MONDO_0015361 |
Charcot-Marie-Tooth disease type 4C | http://purl.obolibrary.org/obo/MONDO_0011113 | http://purl.obolibrary.org/obo/MONDO_0018995 |
Charcot-Marie-Tooth disease type 4F | http://purl.obolibrary.org/obo/MONDO_0013959 | http://purl.obolibrary.org/obo/MONDO_0018995 |
Charcot-Marie-Tooth disease type 4E | http://purl.obolibrary.org/obo/MONDO_0011527 | http://purl.obolibrary.org/obo/MONDO_0018995 |
Charcot-Marie-Tooth disease type 4G | http://purl.obolibrary.org/obo/MONDO_0011534 | http://purl.obolibrary.org/obo/MONDO_0018995 |
Charcot-Marie-Tooth disease type 4B2 | http://purl.obolibrary.org/obo/MONDO_0011475 | http://purl.obolibrary.org/obo/MONDO_0018995 |
Charcot-Marie-Tooth disease type 4D | http://purl.obolibrary.org/obo/MONDO_0011085 | http://purl.obolibrary.org/obo/MONDO_0018995 |
Charcot-Marie-Tooth disease type 4B1 | http://purl.obolibrary.org/obo/MONDO_0011066 | http://purl.obolibrary.org/obo/MONDO_0018995 |
Charcot-Marie-Tooth disease type 4J | http://purl.obolibrary.org/obo/MONDO_0012640 | http://purl.obolibrary.org/obo/MONDO_0018995 |
SURF1-related Charcot-Marie-Tooth disease type 4 | http://www.orpha.net/ORDO/Orphanet_391351 | http://purl.obolibrary.org/obo/MONDO_0018995 |
Charcot-Marie-Tooth disease type 4H | http://purl.obolibrary.org/obo/MONDO_0012250 | http://purl.obolibrary.org/obo/MONDO_0018995 |
Charcot-Marie-Tooth disease type 4B3 | http://purl.obolibrary.org/obo/MONDO_0014117 | http://purl.obolibrary.org/obo/MONDO_0018995 |
Charcot-Marie-Tooth disease type 4A | http://purl.obolibrary.org/obo/MONDO_0008961 | http://purl.obolibrary.org/obo/MONDO_0018995 |
autosomal dominant hereditary demyelinating motor and sensory neuropathy | http://purl.obolibrary.org/obo/MONDO_0015359 | http://purl.obolibrary.org/obo/MONDO_0018776 |
hereditary thermosensitive neuropathy | http://purl.obolibrary.org/obo/MONDO_0011197 | http://purl.obolibrary.org/obo/MONDO_0015359 |
autosomal dominant slowed nerve conduction velocity | http://purl.obolibrary.org/obo/MONDO_0011998 | http://purl.obolibrary.org/obo/MONDO_0015359 |
hereditary sensorimotor neuropathy with hyperelastic skin | http://purl.obolibrary.org/obo/MONDO_0017237 | http://purl.obolibrary.org/obo/MONDO_0015359 |
Charcot-Marie-Tooth disease type 1 | http://purl.obolibrary.org/obo/MONDO_0019011 | http://purl.obolibrary.org/obo/MONDO_0015359 |
Charcot-Marie-Tooth disease type 1D | http://purl.obolibrary.org/obo/MONDO_0011890 | http://purl.obolibrary.org/obo/MONDO_0019011 |
Charcot-Marie-Tooth disease type 1F | http://purl.obolibrary.org/obo/MONDO_0011902 | http://purl.obolibrary.org/obo/MONDO_0019011 |
Charcot-Marie-Tooth disease type 1C | http://purl.obolibrary.org/obo/MONDO_0010995 | http://purl.obolibrary.org/obo/MONDO_0019011 |
Charcot-Marie-Tooth disease type 1B | http://purl.obolibrary.org/obo/MONDO_0007307 | http://purl.obolibrary.org/obo/MONDO_0019011 |
Charcot-Marie-Tooth disease type 1G | http://www.ebi.ac.uk/efo/EFO_0010266 | http://purl.obolibrary.org/obo/MONDO_0019011 |
Roussy-Levy syndrome | http://purl.obolibrary.org/obo/MONDO_0008392 | http://purl.obolibrary.org/obo/MONDO_0015359 |
intermediate Charcot-Marie-Tooth disease | http://purl.obolibrary.org/obo/MONDO_0018778 | http://purl.obolibrary.org/obo/MONDO_0015626 |
autosomal dominant intermediate Charcot-Marie-Tooth disease | http://purl.obolibrary.org/obo/MONDO_0019548 | http://purl.obolibrary.org/obo/MONDO_0018778 |
Charcot-Marie-Tooth disease dominant intermediate E | http://purl.obolibrary.org/obo/MONDO_0013758 | http://purl.obolibrary.org/obo/MONDO_0019548 |
Charcot-Marie-Tooth Disease, axonal, type 2GG | http://purl.obolibrary.org/obo/MONDO_0011675 | http://purl.obolibrary.org/obo/MONDO_0019548 |
Charcot-Marie-Tooth disease dominant intermediate B | http://purl.obolibrary.org/obo/MONDO_0011674 | http://purl.obolibrary.org/obo/MONDO_0019548 |
autosomal dominant Charcot-Marie-Tooth disease type 2M | http://purl.obolibrary.org/obo/MONDO_0016431 | http://purl.obolibrary.org/obo/MONDO_0011674 |
Charcot-Marie-Tooth disease dominant intermediate D | http://purl.obolibrary.org/obo/MONDO_0011909 | http://purl.obolibrary.org/obo/MONDO_0019548 |
Charcot-Marie-Tooth disease type 2I | http://purl.obolibrary.org/obo/MONDO_0011889 | http://purl.obolibrary.org/obo/MONDO_0011909 |
Charcot-Marie-Tooth disease type 2J | http://purl.obolibrary.org/obo/MONDO_0011903 | http://purl.obolibrary.org/obo/MONDO_0011909 |
autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | http://purl.obolibrary.org/obo/MONDO_0017937 | http://purl.obolibrary.org/obo/MONDO_0019548 |
Charcot-Marie-Tooth disease dominant intermediate C | http://purl.obolibrary.org/obo/MONDO_0012012 | http://purl.obolibrary.org/obo/MONDO_0019548 |
Charcot-Marie-Tooth disease dominant intermediate F | http://purl.obolibrary.org/obo/MONDO_0014074 | http://purl.obolibrary.org/obo/MONDO_0019548 |
autosomal recessive intermediate Charcot-Marie-Tooth disease | http://purl.obolibrary.org/obo/MONDO_0017058 | http://purl.obolibrary.org/obo/MONDO_0018778 |
Charcot-Marie-Tooth disease recessive intermediate B | http://purl.obolibrary.org/obo/MONDO_0013338 | http://purl.obolibrary.org/obo/MONDO_0017058 |
Charcot-Marie-Tooth disease recessive intermediate A | http://purl.obolibrary.org/obo/MONDO_0012014 | http://purl.obolibrary.org/obo/MONDO_0017058 |
Charcot-Marie-Tooth disease recessive intermediate C | http://purl.obolibrary.org/obo/MONDO_0014154 | http://purl.obolibrary.org/obo/MONDO_0017058 |
Charcot-Marie-Tooth disease, dominant intermediate G | http://purl.obolibrary.org/obo/MONDO_0036484 | http://purl.obolibrary.org/obo/MONDO_0018778 |
Charcot-Marie-Tooth disease type 2 | http://purl.obolibrary.org/obo/MONDO_0018993 | http://purl.obolibrary.org/obo/MONDO_0015626 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | http://www.orpha.net/ORDO/Orphanet_324611 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease axonal type 2Q | http://purl.obolibrary.org/obo/MONDO_0014012 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal recessive axonal neuropathy with neuromyotonia | http://www.orpha.net/ORDO/Orphanet_324442 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | http://www.orpha.net/ORDO/Orphanet_101097 | http://www.orpha.net/ORDO/Orphanet_324442 |
charcot-marie-tooth disease, axonal, type 2t | http://www.ebi.ac.uk/efo/EFO_0009162 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation | http://www.orpha.net/ORDO/Orphanet_397735 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease axonal type 2CC | http://purl.obolibrary.org/obo/MONDO_0014836 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease type 2A2 | http://purl.obolibrary.org/obo/MONDO_0012231 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease axonal type 2V | http://purl.obolibrary.org/obo/MONDO_0014665 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease axonal type 2L | http://purl.obolibrary.org/obo/MONDO_0012096 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease axonal type 2U | http://purl.obolibrary.org/obo/MONDO_0014566 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2Q | http://www.orpha.net/ORDO/Orphanet_329258 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2C | http://www.orpha.net/ORDO/Orphanet_99937 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2B | http://www.orpha.net/ORDO/Orphanet_99936 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2E | http://www.orpha.net/ORDO/Orphanet_99939 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2D | http://www.orpha.net/ORDO/Orphanet_99938 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2F | http://www.orpha.net/ORDO/Orphanet_99940 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2I | http://www.orpha.net/ORDO/Orphanet_99942 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2K | http://www.orpha.net/ORDO/Orphanet_99944 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2J | http://www.orpha.net/ORDO/Orphanet_99943 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2A1 | http://www.orpha.net/ORDO/Orphanet_99946 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2L | http://www.orpha.net/ORDO/Orphanet_99945 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | http://www.orpha.net/ORDO/Orphanet_99947 | http://purl.obolibrary.org/obo/MONDO_0018993 |
giant axonal neuropathy 2 | http://purl.obolibrary.org/obo/MONDO_0012411 | http://purl.obolibrary.org/obo/MONDO_0018993 |
autosomal dominant Charcot-Marie-Tooth disease type 2K | http://purl.obolibrary.org/obo/MONDO_0020558 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2O | http://www.orpha.net/ORDO/Orphanet_284232 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease type 2A1 | http://purl.obolibrary.org/obo/MONDO_0007308 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease type 2B | http://purl.obolibrary.org/obo/MONDO_0010949 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease type 2H | http://www.orpha.net/ORDO/Orphanet_101102 | http://purl.obolibrary.org/obo/MONDO_0018993 |
autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation | http://purl.obolibrary.org/obo/MONDO_0017940 | http://purl.obolibrary.org/obo/MONDO_0018993 |
charcot-marie-tooth disease, axonal, type 2DD | http://purl.obolibrary.org/obo/MONDO_0054833 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease axonal type 2O | http://purl.obolibrary.org/obo/MONDO_0013644 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease type 2D | http://purl.obolibrary.org/obo/MONDO_0011091 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease axonal type 2N | http://purl.obolibrary.org/obo/MONDO_0013212 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2M | http://www.orpha.net/ORDO/Orphanet_228179 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Autosomal dominant Charcot-Marie-Tooth disease type 2N | http://www.orpha.net/ORDO/Orphanet_228174 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Severe early-onset axonal neuropathy due to NEFL deficiency | http://www.orpha.net/ORDO/Orphanet_228374 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease type 2E | http://purl.obolibrary.org/obo/MONDO_0011894 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease axonal type 2F | http://purl.obolibrary.org/obo/MONDO_0011687 | http://purl.obolibrary.org/obo/MONDO_0018993 |
Charcot-Marie-Tooth disease axonal type 2C | http://purl.obolibrary.org/obo/MONDO_0011633 | http://purl.obolibrary.org/obo/MONDO_0018993 |
progressive demyelinating neuropathy with bilateral striatal necrosis | http://purl.obolibrary.org/obo/MONDO_0013382 | http://purl.obolibrary.org/obo/MONDO_0020127 |
sodium channelopathy-related small fiber neuropathy | http://purl.obolibrary.org/obo/MONDO_0017629 | http://purl.obolibrary.org/obo/MONDO_0020127 |
hereditary sensory and autonomic neuropathy | http://purl.obolibrary.org/obo/MONDO_0015364 | http://purl.obolibrary.org/obo/MONDO_0020127 |
hereditary sensory and autonomic neuropathy type 2 | http://purl.obolibrary.org/obo/MONDO_0019941 | http://purl.obolibrary.org/obo/MONDO_0015364 |
autosomal dominant hereditary sensory and autonomic neuropathy | http://purl.obolibrary.org/obo/MONDO_0015365 | http://purl.obolibrary.org/obo/MONDO_0015364 |
hereditary sensory and autonomic neuropathy type 7 | http://purl.obolibrary.org/obo/MONDO_0014244 | http://purl.obolibrary.org/obo/MONDO_0015365 |
erythromelalgia | http://purl.obolibrary.org/obo/MONDO_0016028 | http://purl.obolibrary.org/obo/MONDO_0015365 |
primary erythermalgia | http://purl.obolibrary.org/obo/MONDO_0007571 | http://purl.obolibrary.org/obo/MONDO_0016028 |
hereditary sensory and autonomic neuropathy type 1 | http://purl.obolibrary.org/obo/MONDO_0018213 | http://purl.obolibrary.org/obo/MONDO_0015365 |
hereditary sensory and autonomic neuropathy type 1B | http://purl.obolibrary.org/obo/MONDO_0011961 | http://purl.obolibrary.org/obo/MONDO_0018213 |
neuropathy, hereditary sensory, type 1F | http://purl.obolibrary.org/obo/MONDO_0014286 | http://purl.obolibrary.org/obo/MONDO_0018213 |
PrP systemic amyloidosis | http://purl.obolibrary.org/obo/MONDO_0018339 | http://purl.obolibrary.org/obo/MONDO_0015365 |
autosomal recessive hereditary sensory and autonomic neuropathy | http://purl.obolibrary.org/obo/MONDO_0015366 | http://purl.obolibrary.org/obo/MONDO_0015364 |
hereditary sensory and autonomic neuropathy type 6 | http://purl.obolibrary.org/obo/MONDO_0013839 | http://purl.obolibrary.org/obo/MONDO_0015366 |
hereditary sensory and autonomic neuropathy with deafness and global delay | http://purl.obolibrary.org/obo/MONDO_0015354 | http://purl.obolibrary.org/obo/MONDO_0015366 |
hereditary sensory and autonomic neuropathy type 4 | http://purl.obolibrary.org/obo/MONDO_0009746 | http://purl.obolibrary.org/obo/MONDO_0015366 |
channelopathy-associated congenital insensitivity to pain, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0009459 | http://purl.obolibrary.org/obo/MONDO_0015366 |
hereditary sensory and autonomic neuropathy type 5 | http://purl.obolibrary.org/obo/MONDO_0012092 | http://purl.obolibrary.org/obo/MONDO_0015366 |
congenital insensitivity to pain-hypohidrosis syndrome | http://purl.obolibrary.org/obo/MONDO_0014662 | http://purl.obolibrary.org/obo/MONDO_0015366 |
X-linked hereditary sensory and autonomic neuropathy with hearing loss | http://purl.obolibrary.org/obo/MONDO_0010378 | http://purl.obolibrary.org/obo/MONDO_0015364 |
congenital insensitivity to pain with hyperhidrosis | http://purl.obolibrary.org/obo/MONDO_0016319 | http://purl.obolibrary.org/obo/MONDO_0015364 |
polyneuropathy-hand defect syndrome | http://purl.obolibrary.org/obo/MONDO_0008809 | http://purl.obolibrary.org/obo/MONDO_0015364 |
cold-induced sweating syndrome - hyperthermia spectrum | http://purl.obolibrary.org/obo/MONDO_0018431 | http://purl.obolibrary.org/obo/MONDO_0015364 |
cold-induced sweating syndrome | http://purl.obolibrary.org/obo/MONDO_0015526 | http://purl.obolibrary.org/obo/MONDO_0018431 |
Cold-induced sweating syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0010091 | http://purl.obolibrary.org/obo/MONDO_0015526 |
hereditary motor and sensory neuropathy | http://purl.obolibrary.org/obo/MONDO_0015358 | http://purl.obolibrary.org/obo/MONDO_0020127 |
familial episodic pain syndrome | http://purl.obolibrary.org/obo/MONDO_0018319 | http://purl.obolibrary.org/obo/MONDO_0020127 |
familial episodic pain syndrome with predominantly upper body involvement | http://purl.obolibrary.org/obo/MONDO_0014021 | http://purl.obolibrary.org/obo/MONDO_0018319 |
Tangier disease | http://purl.obolibrary.org/obo/MONDO_0008783 | http://purl.obolibrary.org/obo/MONDO_0020127 |
attenuated Chédiak-Higashi syndrome | http://purl.obolibrary.org/obo/MONDO_0018133 | http://purl.obolibrary.org/obo/MONDO_0020127 |
neuropathy, congenital hypomelinating | http://purl.obolibrary.org/obo/MONDO_0033352 | http://purl.obolibrary.org/obo/MONDO_0020127 |
metachromatic leukodystrophy | http://purl.obolibrary.org/obo/MONDO_0018868 | http://purl.obolibrary.org/obo/MONDO_0020127 |
metachromatic leukodystrophy, juvenile form | http://purl.obolibrary.org/obo/MONDO_0009591 | http://purl.obolibrary.org/obo/MONDO_0018868 |
metachromatic leukodystrophy, late infantile form | http://purl.obolibrary.org/obo/MONDO_0017729 | http://purl.obolibrary.org/obo/MONDO_0009591 |
metachromatic leukodystrophy, adult form | http://purl.obolibrary.org/obo/MONDO_0017730 | http://purl.obolibrary.org/obo/MONDO_0009591 |
PRPS1 deficiency disorder | http://purl.obolibrary.org/obo/MONDO_0100061 | http://purl.obolibrary.org/obo/MONDO_0020127 |
giant axonal neuropathy | http://purl.obolibrary.org/obo/MONDO_0000128 | http://purl.obolibrary.org/obo/MONDO_0020127 |
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0012173 | http://purl.obolibrary.org/obo/MONDO_0020127 |
biotinidase deficiency | http://purl.obolibrary.org/obo/MONDO_0009665 | http://purl.obolibrary.org/obo/MONDO_0020127 |
homocystinuria due to methylene tetrahydrofolate reductase deficiency | http://purl.obolibrary.org/obo/MONDO_0009353 | http://purl.obolibrary.org/obo/MONDO_0020127 |
tyrosinemia type I | http://purl.obolibrary.org/obo/MONDO_0010161 | http://purl.obolibrary.org/obo/MONDO_0020127 |
infantile axonal neuropathy | http://purl.obolibrary.org/obo/MONDO_0017047 | http://purl.obolibrary.org/obo/MONDO_0020127 |
familial recurrent peripheral facial palsy | http://purl.obolibrary.org/obo/MONDO_0007592 | http://purl.obolibrary.org/obo/MONDO_0020127 |
adult Refsum disease | http://purl.obolibrary.org/obo/MONDO_0009958 | http://purl.obolibrary.org/obo/MONDO_0020127 |
adult polyglucosan body disease | http://purl.obolibrary.org/obo/MONDO_0009897 | http://purl.obolibrary.org/obo/MONDO_0020127 |
inflammatory and toxic neuropathy | http://purl.obolibrary.org/obo/MONDO_0002336 | http://www.ebi.ac.uk/efo/EFO_0003100 |
sensory peripheral neuropathy | http://purl.obolibrary.org/obo/MONDO_0002321 | http://www.ebi.ac.uk/efo/EFO_0003100 |
motor peripheral neuropathy | http://purl.obolibrary.org/obo/MONDO_0002316 | http://www.ebi.ac.uk/efo/EFO_0003100 |
leprosy | http://www.ebi.ac.uk/efo/EFO_0001054 | http://www.ebi.ac.uk/efo/EFO_0003100 |
Leprosy, Paucibacillary | http://www.ebi.ac.uk/efo/EFO_1001358 | http://www.ebi.ac.uk/efo/EFO_0001054 |
lepromatous leprosy | http://www.ebi.ac.uk/efo/EFO_0001057 | http://www.ebi.ac.uk/efo/EFO_0001054 |
tuberculoid leprosy | http://www.ebi.ac.uk/efo/EFO_0001056 | http://www.ebi.ac.uk/efo/EFO_0001054 |
borderline leprosy | http://www.ebi.ac.uk/efo/EFO_0001055 | http://www.ebi.ac.uk/efo/EFO_0001054 |
peripheral nerve lesion | http://purl.obolibrary.org/obo/MONDO_0024334 | http://www.ebi.ac.uk/efo/EFO_0003100 |
radial nerve lesion | http://www.ebi.ac.uk/efo/EFO_1001143 | http://purl.obolibrary.org/obo/MONDO_0024334 |
ulnar nerve lesion | http://purl.obolibrary.org/obo/MONDO_0001458 | http://purl.obolibrary.org/obo/MONDO_0024334 |
lesion of sciatic nerve | http://purl.obolibrary.org/obo/MONDO_0001543 | http://purl.obolibrary.org/obo/MONDO_0024334 |
femoral neuropathy | http://www.ebi.ac.uk/efo/EFO_1000936 | http://purl.obolibrary.org/obo/MONDO_0024334 |
axonal neuropathy | http://purl.obolibrary.org/obo/MONDO_0004183 | http://www.ebi.ac.uk/efo/EFO_0003100 |
neuritis | http://purl.obolibrary.org/obo/MONDO_0002122 | http://www.ebi.ac.uk/efo/EFO_0003100 |
neuritis of upper limb | http://purl.obolibrary.org/obo/MONDO_0003607 | http://purl.obolibrary.org/obo/MONDO_0002122 |
polyneuritis | http://purl.obolibrary.org/obo/MONDO_0021718 | http://purl.obolibrary.org/obo/MONDO_0002122 |
brachial plexus neuritis | http://www.ebi.ac.uk/efo/EFO_1000843 | http://purl.obolibrary.org/obo/MONDO_0002122 |
nerve compression syndrome | http://www.ebi.ac.uk/efo/EFO_0009487 | http://www.ebi.ac.uk/efo/EFO_0003100 |
meralgia paresthetica | http://purl.obolibrary.org/obo/MONDO_0023757 | http://www.ebi.ac.uk/efo/EFO_0009487 |
neuralgia | http://www.ebi.ac.uk/efo/EFO_0009430 | http://www.ebi.ac.uk/efo/EFO_0003100 |
post-infectious neuralgia | http://purl.obolibrary.org/obo/MONDO_0021677 | http://www.ebi.ac.uk/efo/EFO_0009430 |
postherpetic neuralgia | http://purl.obolibrary.org/obo/MONDO_0041052 | http://purl.obolibrary.org/obo/MONDO_0021677 |
diabetic neuropathy | http://www.ebi.ac.uk/efo/EFO_1000783 | http://www.ebi.ac.uk/efo/EFO_0003100 |
diabetic polyneuropathy | http://purl.obolibrary.org/obo/MONDO_0001583 | http://www.ebi.ac.uk/efo/EFO_1000783 |
nerve plexus disease | http://www.ebi.ac.uk/efo/EFO_0009559 | http://www.ebi.ac.uk/efo/EFO_0003100 |
lumbosacral plexus lesion | http://purl.obolibrary.org/obo/MONDO_0001829 | http://www.ebi.ac.uk/efo/EFO_0009559 |
brachial plexus neuropathy | http://www.ebi.ac.uk/efo/EFO_1000844 | http://www.ebi.ac.uk/efo/EFO_0009559 |
ulnar neuropathy | http://www.ebi.ac.uk/efo/EFO_1001224 | http://www.ebi.ac.uk/efo/EFO_1000844 |
radial neuropathy | http://purl.obolibrary.org/obo/MONDO_0001459 | http://www.ebi.ac.uk/efo/EFO_1000844 |
brachial plexus neuropathy from injury | http://purl.obolibrary.org/obo/MONDO_0004569 | http://www.ebi.ac.uk/efo/EFO_1000844 |
mononeuropathy | http://www.ebi.ac.uk/efo/EFO_0009558 | http://www.ebi.ac.uk/efo/EFO_0003100 |
sciatic neuropathy | http://www.ebi.ac.uk/efo/EFO_1001166 | http://www.ebi.ac.uk/efo/EFO_0009558 |
tibial neuropathy | http://www.ebi.ac.uk/efo/EFO_1001213 | http://www.ebi.ac.uk/efo/EFO_0009558 |
mononeuropathy of the median nerve | http://www.ebi.ac.uk/efo/EFO_0020031 | http://www.ebi.ac.uk/efo/EFO_0009558 |
polyneuropathy | http://www.ebi.ac.uk/efo/EFO_0009562 | http://www.ebi.ac.uk/efo/EFO_0003100 |
chronic polyneuropathy | http://purl.obolibrary.org/obo/MONDO_0003335 | http://www.ebi.ac.uk/efo/EFO_0009562 |
alcoholic neuropathy | http://www.ebi.ac.uk/efo/EFO_1000803 | http://www.ebi.ac.uk/efo/EFO_0009562 |
Thyrotoxic periodic paralysis | http://www.orpha.net/ORDO/Orphanet_79102 | http://www.ebi.ac.uk/efo/EFO_0003100 |
synaptopathy | http://purl.obolibrary.org/obo/MONDO_0021017 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Hand-Arm Vibration Syndrome | http://www.ebi.ac.uk/efo/EFO_1001337 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Cubital Tunnel Syndrome | http://www.ebi.ac.uk/efo/EFO_1001301 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Paralysis, Obstetric | http://www.ebi.ac.uk/efo/EFO_1001385 | http://www.ebi.ac.uk/efo/EFO_0000618 |
central nervous system disease | http://www.ebi.ac.uk/efo/EFO_0009386 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Alzheimer's disease neuropathologic change | http://www.ebi.ac.uk/efo/EFO_0006801 | http://www.ebi.ac.uk/efo/EFO_0009386 |
Meningomyelocele | http://www.ebi.ac.uk/efo/EFO_1001369 | http://www.ebi.ac.uk/efo/EFO_0009386 |
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | http://purl.obolibrary.org/obo/MONDO_0013351 | http://www.ebi.ac.uk/efo/EFO_0009386 |
central nervous system vasculitis | http://purl.obolibrary.org/obo/MONDO_0003346 | http://www.ebi.ac.uk/efo/EFO_0009386 |
central nervous system AIDS arteritis | http://www.ebi.ac.uk/efo/EFO_0007198 | http://purl.obolibrary.org/obo/MONDO_0003346 |
central nervous system infection | http://www.ebi.ac.uk/efo/EFO_1001456 | http://www.ebi.ac.uk/efo/EFO_0009386 |
subdural empyema | http://www.ebi.ac.uk/efo/EFO_1001196 | http://www.ebi.ac.uk/efo/EFO_1001456 |
prion disease | http://www.ebi.ac.uk/efo/EFO_0004720 | http://www.ebi.ac.uk/efo/EFO_1001456 |
Creutzfeldt Jacob Disease | http://www.ebi.ac.uk/efo/EFO_0004226 | http://www.ebi.ac.uk/efo/EFO_0004720 |
acquired Creutzfeldt-Jakob disease | http://purl.obolibrary.org/obo/MONDO_0018686 | http://www.ebi.ac.uk/efo/EFO_0004226 |
variant Creutzfeldt-Jakob disease | http://www.ebi.ac.uk/efo/EFO_1001233 | http://purl.obolibrary.org/obo/MONDO_0018686 |
iatrogenic Creutzfeldt-Jakob disease | http://purl.obolibrary.org/obo/MONDO_0034976 | http://purl.obolibrary.org/obo/MONDO_0018686 |
sporadic Creutzfeld Jacob disease | http://www.ebi.ac.uk/efo/EFO_1000656 | http://www.ebi.ac.uk/efo/EFO_0004226 |
scrapie | http://www.ebi.ac.uk/efo/EFO_1001168 | http://www.ebi.ac.uk/efo/EFO_0004720 |
inherited prion disease | http://purl.obolibrary.org/obo/MONDO_0017234 | http://www.ebi.ac.uk/efo/EFO_0004720 |
fatal familial insomnia | http://purl.obolibrary.org/obo/MONDO_0010808 | http://purl.obolibrary.org/obo/MONDO_0017234 |
Gerstmann-Straussler-Scheinker syndrome | http://purl.obolibrary.org/obo/MONDO_0007656 | http://purl.obolibrary.org/obo/MONDO_0017234 |
encephalomyelitis | http://www.ebi.ac.uk/efo/EFO_0001423 | http://www.ebi.ac.uk/efo/EFO_1001456 |
Encephalitis, Varicella Zoster | http://www.ebi.ac.uk/efo/EFO_1001310 | http://www.ebi.ac.uk/efo/EFO_0001423 |
meningitis | http://purl.obolibrary.org/obo/MONDO_0021108 | http://www.ebi.ac.uk/efo/EFO_0001423 |
meningitis caused by poliovirus | http://purl.obolibrary.org/obo/MONDO_0024620 | http://purl.obolibrary.org/obo/MONDO_0021108 |
fungal meningitis | http://www.ebi.ac.uk/efo/EFO_1000942 | http://purl.obolibrary.org/obo/MONDO_0021108 |
cryptococcal meningitis | http://www.ebi.ac.uk/efo/EFO_0007228 | http://www.ebi.ac.uk/efo/EFO_1000942 |
bacterial meningitis | http://www.ebi.ac.uk/efo/EFO_1000831 | http://purl.obolibrary.org/obo/MONDO_0021108 |
meningococcal meningitis | http://www.ebi.ac.uk/efo/EFO_1001040 | http://www.ebi.ac.uk/efo/EFO_1000831 |
Listeria meningitis | http://www.ebi.ac.uk/efo/EFO_1001021 | http://www.ebi.ac.uk/efo/EFO_1000831 |
streptococcal meningitis | http://purl.obolibrary.org/obo/MONDO_0001316 | http://www.ebi.ac.uk/efo/EFO_1000831 |
pneumococcal meningitis | http://www.ebi.ac.uk/efo/EFO_1001114 | http://purl.obolibrary.org/obo/MONDO_0001316 |
meningeal tuberculosis | http://www.ebi.ac.uk/efo/EFO_1000039 | http://www.ebi.ac.uk/efo/EFO_1000831 |
bacterial meningitis caused by gram-negative bacteria | http://purl.obolibrary.org/obo/MONDO_0041825 | http://www.ebi.ac.uk/efo/EFO_1000831 |
anaerobic meningitis | http://purl.obolibrary.org/obo/MONDO_0002000 | http://www.ebi.ac.uk/efo/EFO_1000831 |
Escherichia coli meningitis | http://www.ebi.ac.uk/efo/EFO_1000929 | http://www.ebi.ac.uk/efo/EFO_1000831 |
Haemophilus influenzae meningitis | http://www.ebi.ac.uk/efo/EFO_1000955 | http://www.ebi.ac.uk/efo/EFO_1000831 |
aseptic meningitis | http://www.ebi.ac.uk/efo/EFO_1000823 | http://purl.obolibrary.org/obo/MONDO_0021108 |
viral meningitis | http://www.ebi.ac.uk/efo/EFO_1001236 | http://www.ebi.ac.uk/efo/EFO_1000823 |
brain inflammatory disease | http://purl.obolibrary.org/obo/MONDO_0015144 | http://www.ebi.ac.uk/efo/EFO_0001423 |
fatal post-viral neurodegenerative disorder | http://purl.obolibrary.org/obo/MONDO_0018316 | http://purl.obolibrary.org/obo/MONDO_0015144 |
Myelitis | http://www.ebi.ac.uk/efo/EFO_1001472 | http://www.ebi.ac.uk/efo/EFO_0001423 |
acute transverse myelitis | http://purl.obolibrary.org/obo/MONDO_0015342 | http://www.ebi.ac.uk/efo/EFO_1001472 |
idiopathic acute transverse myelitis | http://purl.obolibrary.org/obo/MONDO_0015344 | http://purl.obolibrary.org/obo/MONDO_0015342 |
transverse myelitis | http://purl.obolibrary.org/obo/MONDO_0021553 | http://www.ebi.ac.uk/efo/EFO_1001472 |
Venezuelan equine encephalitis | http://www.ebi.ac.uk/efo/EFO_0007534 | http://www.ebi.ac.uk/efo/EFO_0001423 |
experimental autoimmune encephalomyelitis | http://www.ebi.ac.uk/efo/EFO_0001066 | http://www.ebi.ac.uk/efo/EFO_0001423 |
infectious meningitis | http://www.ebi.ac.uk/efo/EFO_0000584 | http://www.ebi.ac.uk/efo/EFO_0001423 |
borna disease | http://www.ebi.ac.uk/efo/EFO_0007178 | http://www.ebi.ac.uk/efo/EFO_0001423 |
hypertensive encephalopathy | http://www.ebi.ac.uk/efo/EFO_1000976 | http://www.ebi.ac.uk/efo/EFO_0001423 |
viral infection of central nervous system | http://purl.obolibrary.org/obo/MONDO_0024318 | http://www.ebi.ac.uk/efo/EFO_1001456 |
human prion disease | http://purl.obolibrary.org/obo/MONDO_0018926 | http://www.ebi.ac.uk/efo/EFO_1001456 |
neuroschistosomiasis | http://www.ebi.ac.uk/efo/EFO_0007394 | http://www.ebi.ac.uk/efo/EFO_1001456 |
central nervous system tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007199 | http://www.ebi.ac.uk/efo/EFO_1001456 |
central nervous system venous angioma | http://www.ebi.ac.uk/efo/EFO_1001774 | http://www.ebi.ac.uk/efo/EFO_0009386 |
autoimmune disorder of central nervous system | http://purl.obolibrary.org/obo/MONDO_0000568 | http://www.ebi.ac.uk/efo/EFO_0009386 |
hippocampal atrophy | http://www.ebi.ac.uk/efo/EFO_0005039 | http://www.ebi.ac.uk/efo/EFO_0009386 |
Genetic dementia | http://www.orpha.net/ORDO/Orphanet_158124 | http://www.ebi.ac.uk/efo/EFO_0009386 |
Metabolic disease with dementia | http://www.orpha.net/ORDO/Orphanet_98543 | http://www.orpha.net/ORDO/Orphanet_158124 |
Fatal familial insomnia | http://www.orpha.net/ORDO/Orphanet_466 | http://www.orpha.net/ORDO/Orphanet_158124 |
Genetic neurodegenerative disease with dementia | http://www.orpha.net/ORDO/Orphanet_276058 | http://www.orpha.net/ORDO/Orphanet_158124 |
Ataxia with dementia | http://www.orpha.net/ORDO/Orphanet_98538 | http://www.orpha.net/ORDO/Orphanet_276058 |
Late-onset ataxia with dementia | http://www.orpha.net/ORDO/Orphanet_98540 | http://www.orpha.net/ORDO/Orphanet_98538 |
Early-onset ataxia with dementia | http://www.orpha.net/ORDO/Orphanet_98539 | http://www.orpha.net/ORDO/Orphanet_98538 |
Early-onset autosomal dominant Alzheimer disease | http://www.orpha.net/ORDO/Orphanet_1020 | http://www.orpha.net/ORDO/Orphanet_276058 |
Genetic frontotemporal degeneration with dementia | http://www.orpha.net/ORDO/Orphanet_276061 | http://www.orpha.net/ORDO/Orphanet_276058 |
Frontotemporal dementia | http://www.orpha.net/ORDO/Orphanet_282 | http://www.orpha.net/ORDO/Orphanet_276061 |
Semantic dementia | http://www.orpha.net/ORDO/Orphanet_100069 | http://www.orpha.net/ORDO/Orphanet_282 |
Right temporal lobar atrophy | http://www.orpha.net/ORDO/Orphanet_293848 | http://www.orpha.net/ORDO/Orphanet_282 |
Genetic cerebrovascular dementia | http://www.orpha.net/ORDO/Orphanet_371439 | http://www.orpha.net/ORDO/Orphanet_158124 |
Hereditary cerebral hemorrhage with amyloidosis | http://www.orpha.net/ORDO/Orphanet_85458 | http://www.orpha.net/ORDO/Orphanet_371439 |
Hereditary cerebral hemorrhage with amyloidosis, Dutch type | http://www.orpha.net/ORDO/Orphanet_100006 | http://www.orpha.net/ORDO/Orphanet_85458 |
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type | http://www.orpha.net/ORDO/Orphanet_100008 | http://www.orpha.net/ORDO/Orphanet_85458 |
Hereditary cerebral hemorrhage with amyloidosis, Italian type | http://www.orpha.net/ORDO/Orphanet_324713 | http://www.orpha.net/ORDO/Orphanet_85458 |
Hereditary cerebral hemorrhage with amyloidosis, Flemish type | http://www.orpha.net/ORDO/Orphanet_324718 | http://www.orpha.net/ORDO/Orphanet_85458 |
Hereditary cerebral hemorrhage with amyloidosis, Arctic type | http://www.orpha.net/ORDO/Orphanet_324723 | http://www.orpha.net/ORDO/Orphanet_85458 |
Hereditary cerebral hemorrhage with amyloidosis, Iowa type | http://www.orpha.net/ORDO/Orphanet_324708 | http://www.orpha.net/ORDO/Orphanet_85458 |
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type | http://www.orpha.net/ORDO/Orphanet_324703 | http://www.orpha.net/ORDO/Orphanet_85458 |
neurodegenerative disease | http://www.ebi.ac.uk/efo/EFO_0005772 | http://www.ebi.ac.uk/efo/EFO_0009386 |
infantile bilateral striatal necrosis | http://purl.obolibrary.org/obo/MONDO_0015518 | http://www.ebi.ac.uk/efo/EFO_0005772 |
sporadic infantile bilateral striatal necrosis | http://purl.obolibrary.org/obo/MONDO_0016394 | http://purl.obolibrary.org/obo/MONDO_0015518 |
cerebellar degeneration | http://purl.obolibrary.org/obo/MONDO_0022687 | http://www.ebi.ac.uk/efo/EFO_0005772 |
Marchiafava-Bignami Disease | http://www.ebi.ac.uk/efo/EFO_1001809 | http://www.ebi.ac.uk/efo/EFO_0005772 |
neuroaxonal dystrophy | http://purl.obolibrary.org/obo/MONDO_0002283 | http://www.ebi.ac.uk/efo/EFO_0005772 |
inherited neurodegenerative disorder | http://purl.obolibrary.org/obo/MONDO_0024237 | http://www.ebi.ac.uk/efo/EFO_0005772 |
synucleinopathy | http://purl.obolibrary.org/obo/DOID_0050890 | http://purl.obolibrary.org/obo/MONDO_0024237 |
Lewy body dementia | http://www.ebi.ac.uk/efo/EFO_0006792 | http://purl.obolibrary.org/obo/DOID_0050890 |
Parkinson disease | http://purl.obolibrary.org/obo/MONDO_0005180 | http://purl.obolibrary.org/obo/DOID_0050890 |
secondary Parkinson disease | http://www.ebi.ac.uk/efo/EFO_1001175 | http://purl.obolibrary.org/obo/MONDO_0005180 |
postencephalitic Parkinson disease | http://www.ebi.ac.uk/efo/EFO_1001402 | http://www.ebi.ac.uk/efo/EFO_1001175 |
late-onset Parkinson disease | http://purl.obolibrary.org/obo/MONDO_0008199 | http://purl.obolibrary.org/obo/MONDO_0005180 |
Parkinson disease, mitochondrial | http://purl.obolibrary.org/obo/MONDO_0010796 | http://purl.obolibrary.org/obo/MONDO_0005180 |
parkinsonian-pyramidal syndrome | http://purl.obolibrary.org/obo/MONDO_0009830 | http://purl.obolibrary.org/obo/MONDO_0005180 |
young-onset Parkinson disease | http://purl.obolibrary.org/obo/MONDO_0017279 | http://purl.obolibrary.org/obo/MONDO_0005180 |
juvenile-onset Parkinson disease | http://purl.obolibrary.org/obo/MONDO_0000828 | http://purl.obolibrary.org/obo/MONDO_0017279 |
ataxia-telangiectasia-like disorder | http://purl.obolibrary.org/obo/MONDO_0011457 | http://purl.obolibrary.org/obo/MONDO_0024237 |
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | http://purl.obolibrary.org/obo/MONDO_0008842 | http://purl.obolibrary.org/obo/MONDO_0011457 |
myoclonic cerebellar dyssynergia | http://www.ebi.ac.uk/efo/EFO_1001053 | http://purl.obolibrary.org/obo/MONDO_0024237 |
ITM2B amyloidosis | http://purl.obolibrary.org/obo/MONDO_0018591 | http://purl.obolibrary.org/obo/MONDO_0024237 |
ABri amyloidosis | http://purl.obolibrary.org/obo/MONDO_0008306 | http://purl.obolibrary.org/obo/MONDO_0018591 |
ADan amyloidosis | http://purl.obolibrary.org/obo/MONDO_0007297 | http://purl.obolibrary.org/obo/MONDO_0018591 |
autosomal recessive cerebral atrophy | http://purl.obolibrary.org/obo/MONDO_0018218 | http://purl.obolibrary.org/obo/MONDO_0024237 |
hereditary ataxia | http://www.ebi.ac.uk/efo/EFO_0009671 | http://purl.obolibrary.org/obo/MONDO_0024237 |
spastic ataxia | http://purl.obolibrary.org/obo/MONDO_0017845 | http://www.ebi.ac.uk/efo/EFO_0009671 |
autosomal recessive spastic ataxia | http://purl.obolibrary.org/obo/MONDO_0017847 | http://purl.obolibrary.org/obo/MONDO_0017845 |
spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | http://purl.obolibrary.org/obo/MONDO_0033043 | http://purl.obolibrary.org/obo/MONDO_0017847 |
autosomal dominant spastic ataxia | http://purl.obolibrary.org/obo/MONDO_0017846 | http://purl.obolibrary.org/obo/MONDO_0017845 |
spastic ataxia 7 | http://purl.obolibrary.org/obo/MONDO_0007165 | http://purl.obolibrary.org/obo/MONDO_0017846 |
spastic ataxia 1 | http://purl.obolibrary.org/obo/MONDO_0007164 | http://purl.obolibrary.org/obo/MONDO_0017846 |
ataxia-tapetoretinal degeneration syndrome | http://purl.obolibrary.org/obo/MONDO_0010095 | http://www.ebi.ac.uk/efo/EFO_0009671 |
spinocerebellar ataxia-dysmorphism syndrome | http://purl.obolibrary.org/obo/MONDO_0010062 | http://www.ebi.ac.uk/efo/EFO_0009671 |
hereditary episodic ataxia | http://purl.obolibrary.org/obo/MONDO_0016227 | http://www.ebi.ac.uk/efo/EFO_0009671 |
episodic ataxia type 4 | http://purl.obolibrary.org/obo/MONDO_0011681 | http://purl.obolibrary.org/obo/MONDO_0016227 |
episodic ataxia type 3 | http://purl.obolibrary.org/obo/MONDO_0011682 | http://purl.obolibrary.org/obo/MONDO_0016227 |
episodic ataxia type 5 | http://purl.obolibrary.org/obo/MONDO_0013464 | http://purl.obolibrary.org/obo/MONDO_0016227 |
episodic ataxia type 2 | http://purl.obolibrary.org/obo/MONDO_0007163 | http://purl.obolibrary.org/obo/MONDO_0016227 |
episodic ataxia, type 9 | http://purl.obolibrary.org/obo/MONDO_0030064 | http://purl.obolibrary.org/obo/MONDO_0016227 |
episodic ataxia type 7 | http://purl.obolibrary.org/obo/MONDO_0012755 | http://purl.obolibrary.org/obo/MONDO_0016227 |
episodic ataxia type 6 | http://purl.obolibrary.org/obo/MONDO_0012982 | http://purl.obolibrary.org/obo/MONDO_0016227 |
episodic ataxia type 8 | http://purl.obolibrary.org/obo/MONDO_0014476 | http://purl.obolibrary.org/obo/MONDO_0016227 |
posterior cortical atrophy | http://purl.obolibrary.org/obo/MONDO_0018899 | http://purl.obolibrary.org/obo/MONDO_0024237 |
neuronal ceroid lipofuscinosis | http://purl.obolibrary.org/obo/MONDO_0016295 | http://purl.obolibrary.org/obo/MONDO_0024237 |
late infantile neuronal ceroid lipofuscinosis | http://purl.obolibrary.org/obo/MONDO_0015674 | http://purl.obolibrary.org/obo/MONDO_0016295 |
ceroid lipofuscinosis, neuronal, 6A | http://purl.obolibrary.org/obo/MONDO_0011144 | http://purl.obolibrary.org/obo/MONDO_0015674 |
neuronal ceroid lipofuscinosis 5 | http://purl.obolibrary.org/obo/MONDO_0009745 | http://purl.obolibrary.org/obo/MONDO_0015674 |
neuronal ceroid lipofuscinosis 8 | http://purl.obolibrary.org/obo/MONDO_0010830 | http://purl.obolibrary.org/obo/MONDO_0015674 |
neuronal ceroid lipofuscinosis 10 | http://purl.obolibrary.org/obo/MONDO_0012414 | http://purl.obolibrary.org/obo/MONDO_0015674 |
neuronal ceroid lipofuscinosis 7 | http://purl.obolibrary.org/obo/MONDO_0012588 | http://purl.obolibrary.org/obo/MONDO_0015674 |
neuronal ceroid lipofuscinosis 2 | http://purl.obolibrary.org/obo/MONDO_0008769 | http://purl.obolibrary.org/obo/MONDO_0015674 |
neuronal ceroid lipofuscinosis 1 | http://purl.obolibrary.org/obo/MONDO_0009744 | http://purl.obolibrary.org/obo/MONDO_0016295 |
juvenile neuronal ceroid lipofuscinosis | http://purl.obolibrary.org/obo/MONDO_0019262 | http://purl.obolibrary.org/obo/MONDO_0016295 |
neuronal ceroid lipofuscinosis 9 | http://purl.obolibrary.org/obo/MONDO_0012188 | http://purl.obolibrary.org/obo/MONDO_0019262 |
neuronal ceroid lipofuscinosis 3 | http://purl.obolibrary.org/obo/MONDO_0008767 | http://purl.obolibrary.org/obo/MONDO_0019262 |
adult neuronal ceroid lipofuscinosis | http://purl.obolibrary.org/obo/MONDO_0019260 | http://purl.obolibrary.org/obo/MONDO_0016295 |
neuronal ceroid lipofuscinosis 11 | http://purl.obolibrary.org/obo/MONDO_0013866 | http://purl.obolibrary.org/obo/MONDO_0019260 |
ceroid lipofuscinosis, neuronal, 4 (Kufs type) | http://purl.obolibrary.org/obo/MONDO_0008083 | http://purl.obolibrary.org/obo/MONDO_0019260 |
neuronal ceroid lipofuscinosis 13 | http://purl.obolibrary.org/obo/MONDO_0014147 | http://purl.obolibrary.org/obo/MONDO_0019260 |
ceroid lipofuscinosis, neuronal, 6B (Kufs type) | http://purl.obolibrary.org/obo/MONDO_0008768 | http://purl.obolibrary.org/obo/MONDO_0019260 |
infantile neuronal ceroid lipofuscinosis | http://purl.obolibrary.org/obo/MONDO_0019261 | http://purl.obolibrary.org/obo/MONDO_0016295 |
progressive myoclonic epilepsy type 3 | http://purl.obolibrary.org/obo/MONDO_0012721 | http://purl.obolibrary.org/obo/MONDO_0016295 |
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | http://purl.obolibrary.org/obo/MONDO_0100095 | http://purl.obolibrary.org/obo/MONDO_0024237 |
Huntington disease and related disorders | http://purl.obolibrary.org/obo/MONDO_0000167 | http://purl.obolibrary.org/obo/MONDO_0024237 |
Huntington disease-like syndrome | http://purl.obolibrary.org/obo/MONDO_0015548 | http://purl.obolibrary.org/obo/MONDO_0000167 |
severe neurodegenerative syndrome with lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0014402 | http://purl.obolibrary.org/obo/MONDO_0024237 |
Genetic neurodegenerative disease | http://www.orpha.net/ORDO/Orphanet_183500 | http://purl.obolibrary.org/obo/MONDO_0024237 |
Primary lateral sclerosis | http://www.orpha.net/ORDO/Orphanet_35689 | http://www.orpha.net/ORDO/Orphanet_183500 |
Posterior cortical atrophy | http://www.orpha.net/ORDO/Orphanet_54247 | http://www.orpha.net/ORDO/Orphanet_183500 |
Hereditary spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_685 | http://www.orpha.net/ORDO/Orphanet_183500 |
spastic paraplegia 84, autosomal recessive | http://www.ebi.ac.uk/efo/EFO_0020858 | http://www.orpha.net/ORDO/Orphanet_685 |
Pure or complex hereditary spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_320335 | http://www.orpha.net/ORDO/Orphanet_685 |
Pure or complex X-linked spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_320350 | http://www.orpha.net/ORDO/Orphanet_320335 |
X-linked spastic paraplegia type 16 | http://www.orpha.net/ORDO/Orphanet_100997 | http://www.orpha.net/ORDO/Orphanet_320350 |
Pure or complex autosomal recessive spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_320346 | http://www.orpha.net/ORDO/Orphanet_320335 |
Macrocephaly - spastic paraplegia - dysmorphism | http://www.orpha.net/ORDO/Orphanet_2429 | http://www.orpha.net/ORDO/Orphanet_320346 |
Autosomal recessive spastic paraplegia type 48 | http://www.orpha.net/ORDO/Orphanet_306511 | http://www.orpha.net/ORDO/Orphanet_320346 |
Autosomal recessive spastic paraplegia type 30 | http://www.orpha.net/ORDO/Orphanet_101010 | http://www.orpha.net/ORDO/Orphanet_320346 |
Autosomal recessive spastic paraplegia type 11 | http://www.orpha.net/ORDO/Orphanet_2822 | http://www.orpha.net/ORDO/Orphanet_320346 |
Autosomal recessive spastic paraplegia type 35 | http://www.orpha.net/ORDO/Orphanet_171629 | http://www.orpha.net/ORDO/Orphanet_320346 |
Autosomal recessive spastic paraplegia type 5A | http://www.orpha.net/ORDO/Orphanet_100986 | http://www.orpha.net/ORDO/Orphanet_320346 |
Autosomal recessive spastic paraplegia type 14 | http://www.orpha.net/ORDO/Orphanet_100995 | http://www.orpha.net/ORDO/Orphanet_320346 |
Autosomal recessive spastic paraplegia type 56 | http://www.orpha.net/ORDO/Orphanet_320411 | http://www.orpha.net/ORDO/Orphanet_320346 |
Pure or complex autosomal dominant spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_320342 | http://www.orpha.net/ORDO/Orphanet_320335 |
Autosomal dominant spastic paraplegia type 31 | http://www.orpha.net/ORDO/Orphanet_101011 | http://www.orpha.net/ORDO/Orphanet_320342 |
Autosomal dominant spastic paraplegia type 3 | http://www.orpha.net/ORDO/Orphanet_100984 | http://www.orpha.net/ORDO/Orphanet_320342 |
Autosomal dominant spastic paraplegia type 4 | http://www.orpha.net/ORDO/Orphanet_100985 | http://www.orpha.net/ORDO/Orphanet_320342 |
Autosomal dominant spastic paraplegia type 6 | http://www.orpha.net/ORDO/Orphanet_100988 | http://www.orpha.net/ORDO/Orphanet_320342 |
Autosomal dominant spastic paraplegia type 10 | http://www.orpha.net/ORDO/Orphanet_100991 | http://www.orpha.net/ORDO/Orphanet_320342 |
Autosomal dominant spastic paraplegia type 13 | http://www.orpha.net/ORDO/Orphanet_100994 | http://www.orpha.net/ORDO/Orphanet_320342 |
Complex hereditary spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_102013 | http://www.orpha.net/ORDO/Orphanet_685 |
Autosomal recessive complex spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_100981 | http://www.orpha.net/ORDO/Orphanet_102013 |
Severe intellectual disability and progressive spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_280763 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 23 | http://www.orpha.net/ORDO/Orphanet_101003 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 25 | http://www.orpha.net/ORDO/Orphanet_101005 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 24 | http://www.orpha.net/ORDO/Orphanet_101004 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 27 | http://www.orpha.net/ORDO/Orphanet_101007 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 26 | http://www.orpha.net/ORDO/Orphanet_101006 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 39 | http://www.orpha.net/ORDO/Orphanet_139480 | http://www.orpha.net/ORDO/Orphanet_100981 |
Hereditary sensory and autonomic neuropathy with spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_139578 | http://www.orpha.net/ORDO/Orphanet_100981 |
Spastic paraplegia - glaucoma - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2818 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 59 | http://www.orpha.net/ORDO/Orphanet_401795 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 61 | http://www.orpha.net/ORDO/Orphanet_401780 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 18 | http://www.orpha.net/ORDO/Orphanet_209951 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 32 | http://www.orpha.net/ORDO/Orphanet_171622 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 69 | http://www.orpha.net/ORDO/Orphanet_401830 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 70 | http://www.orpha.net/ORDO/Orphanet_401835 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 60 | http://www.orpha.net/ORDO/Orphanet_401800 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 63 | http://www.orpha.net/ORDO/Orphanet_401805 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 64 | http://www.orpha.net/ORDO/Orphanet_401810 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 66 | http://www.orpha.net/ORDO/Orphanet_401815 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 67 | http://www.orpha.net/ORDO/Orphanet_401820 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 68 | http://www.orpha.net/ORDO/Orphanet_401825 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 15 | http://www.orpha.net/ORDO/Orphanet_100996 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 44 | http://www.orpha.net/ORDO/Orphanet_320401 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 55 | http://www.orpha.net/ORDO/Orphanet_320375 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 43 | http://www.orpha.net/ORDO/Orphanet_320370 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 49 | http://www.orpha.net/ORDO/Orphanet_320385 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 54 | http://www.orpha.net/ORDO/Orphanet_320380 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 45 | http://www.orpha.net/ORDO/Orphanet_320396 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 46 | http://www.orpha.net/ORDO/Orphanet_320391 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal recessive spastic paraplegia type 53 | http://www.orpha.net/ORDO/Orphanet_319199 | http://www.orpha.net/ORDO/Orphanet_100981 |
Autosomal dominant complex spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_100979 | http://www.orpha.net/ORDO/Orphanet_102013 |
Autosomal dominant spastic paraplegia type 29 | http://www.orpha.net/ORDO/Orphanet_101009 | http://www.orpha.net/ORDO/Orphanet_100979 |
Spastic paraplegia - nephritis - deafness | http://www.orpha.net/ORDO/Orphanet_2820 | http://www.orpha.net/ORDO/Orphanet_100979 |
Spastic paraplegia - neuropathy - poikiloderma | http://www.orpha.net/ORDO/Orphanet_2821 | http://www.orpha.net/ORDO/Orphanet_100979 |
Spastic paraplegia - precocious puberty | http://www.orpha.net/ORDO/Orphanet_2826 | http://www.orpha.net/ORDO/Orphanet_100979 |
Spastic paraplegia - epilepsy - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2816 | http://www.orpha.net/ORDO/Orphanet_100979 |
Spastic paraplegia - facial-cutaneous lesions | http://www.orpha.net/ORDO/Orphanet_2819 | http://www.orpha.net/ORDO/Orphanet_100979 |
Spastic paraplegia - Paget disease of bone | http://www.orpha.net/ORDO/Orphanet_329475 | http://www.orpha.net/ORDO/Orphanet_100979 |
Autosomal dominant spastic paraplegia type 38 | http://www.orpha.net/ORDO/Orphanet_171617 | http://www.orpha.net/ORDO/Orphanet_100979 |
Autosomal dominant spastic paraplegia type 9 | http://www.orpha.net/ORDO/Orphanet_100990 | http://www.orpha.net/ORDO/Orphanet_100979 |
Autosomal dominant spastic paraplegia type 36 | http://www.orpha.net/ORDO/Orphanet_320365 | http://www.orpha.net/ORDO/Orphanet_100979 |
Maternally-inherited spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_320360 | http://www.orpha.net/ORDO/Orphanet_102013 |
Pure hereditary spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_102012 | http://www.orpha.net/ORDO/Orphanet_685 |
Autosomal dominant pure spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_100980 | http://www.orpha.net/ORDO/Orphanet_102012 |
Autosomal dominant spastic paraplegia type 42 | http://www.orpha.net/ORDO/Orphanet_171863 | http://www.orpha.net/ORDO/Orphanet_100980 |
Autosomal dominant spastic paraplegia type 37 | http://www.orpha.net/ORDO/Orphanet_171612 | http://www.orpha.net/ORDO/Orphanet_100980 |
Autosomal dominant spastic paraplegia type 8 | http://www.orpha.net/ORDO/Orphanet_100989 | http://www.orpha.net/ORDO/Orphanet_100980 |
Autosomal dominant spastic paraplegia type 12 | http://www.orpha.net/ORDO/Orphanet_100993 | http://www.orpha.net/ORDO/Orphanet_100980 |
Autosomal dominant spastic paraplegia type 19 | http://www.orpha.net/ORDO/Orphanet_100999 | http://www.orpha.net/ORDO/Orphanet_100980 |
Autosomal dominant spastic paraplegia type 41 | http://www.orpha.net/ORDO/Orphanet_320355 | http://www.orpha.net/ORDO/Orphanet_100980 |
Autosomal recessive pure spastic paraplegia | http://www.orpha.net/ORDO/Orphanet_100982 | http://www.orpha.net/ORDO/Orphanet_102012 |
Autosomal recessive spastic paraplegia type 28 | http://www.orpha.net/ORDO/Orphanet_101008 | http://www.orpha.net/ORDO/Orphanet_100982 |
Autosomal recessive spastic paraplegia type 62 | http://www.orpha.net/ORDO/Orphanet_401785 | http://www.orpha.net/ORDO/Orphanet_100982 |
Autosomal recessive spastic paraplegia type 71 | http://www.orpha.net/ORDO/Orphanet_401840 | http://www.orpha.net/ORDO/Orphanet_100982 |
Autosomal recessive spastic paraplegia type 72 | http://www.orpha.net/ORDO/Orphanet_401849 | http://www.orpha.net/ORDO/Orphanet_100982 |
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | http://www.orpha.net/ORDO/Orphanet_1035 | http://www.orpha.net/ORDO/Orphanet_183500 |
Fatal post-viral neurodegenerative disorder | http://www.orpha.net/ORDO/Orphanet_391343 | http://www.orpha.net/ORDO/Orphanet_183500 |
Neurodegenerative syndrome due to cerebral folate transport deficiency | http://www.orpha.net/ORDO/Orphanet_217382 | http://www.orpha.net/ORDO/Orphanet_183500 |
Facial onset sensory and motor neuronopathy | http://www.orpha.net/ORDO/Orphanet_85162 | http://www.orpha.net/ORDO/Orphanet_183500 |
Attenuated Chédiak-Higashi syndrome | http://www.orpha.net/ORDO/Orphanet_352723 | http://www.orpha.net/ORDO/Orphanet_183500 |
Ferro-cerebro-cutaneous syndrome | http://www.orpha.net/ORDO/Orphanet_397922 | http://www.orpha.net/ORDO/Orphanet_183500 |
Autosomal recessive cerebral atrophy | http://www.orpha.net/ORDO/Orphanet_363969 | http://www.orpha.net/ORDO/Orphanet_183500 |
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | http://purl.obolibrary.org/obo/MONDO_0009585 | http://purl.obolibrary.org/obo/MONDO_0024237 |
frontotemporal dementia | http://purl.obolibrary.org/obo/MONDO_0017276 | http://purl.obolibrary.org/obo/MONDO_0024237 |
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | http://purl.obolibrary.org/obo/MONDO_0011842 | http://purl.obolibrary.org/obo/MONDO_0017276 |
Pick disease | http://www.ebi.ac.uk/efo/EFO_0003096 | http://purl.obolibrary.org/obo/MONDO_0017276 |
facial onset sensory and motor neuronopathy | http://purl.obolibrary.org/obo/MONDO_0019405 | http://purl.obolibrary.org/obo/MONDO_0024237 |
leukodystrophy | http://purl.obolibrary.org/obo/MONDO_0019046 | http://purl.obolibrary.org/obo/MONDO_0024237 |
megalencephalic leukoencephalopathy with subcortical cysts | http://purl.obolibrary.org/obo/MONDO_0011391 | http://purl.obolibrary.org/obo/MONDO_0019046 |
leukoencephalopathy with vanishing white matter | http://purl.obolibrary.org/obo/MONDO_0011380 | http://purl.obolibrary.org/obo/MONDO_0019046 |
congenital or early infantile CACH syndrome | http://purl.obolibrary.org/obo/MONDO_0015519 | http://purl.obolibrary.org/obo/MONDO_0011380 |
late infantile CACH syndrome | http://purl.obolibrary.org/obo/MONDO_0015520 | http://purl.obolibrary.org/obo/MONDO_0011380 |
juvenile or adult CACH syndrome | http://purl.obolibrary.org/obo/MONDO_0015521 | http://purl.obolibrary.org/obo/MONDO_0011380 |
ovarioleukodystrophy | http://purl.obolibrary.org/obo/MONDO_0020506 | http://purl.obolibrary.org/obo/MONDO_0011380 |
Cree leukoencephalopathy | http://purl.obolibrary.org/obo/MONDO_0020507 | http://purl.obolibrary.org/obo/MONDO_0011380 |
leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | http://purl.obolibrary.org/obo/MONDO_0011897 | http://purl.obolibrary.org/obo/MONDO_0019046 |
cystic leukoencephalopathy without megalencephaly | http://purl.obolibrary.org/obo/MONDO_0013058 | http://purl.obolibrary.org/obo/MONDO_0019046 |
sterol carrier protein 2 deficiency | http://purl.obolibrary.org/obo/MONDO_0013391 | http://purl.obolibrary.org/obo/MONDO_0019046 |
leukodystrophy, hypomyelinating, 15 | http://purl.obolibrary.org/obo/MONDO_0054782 | http://purl.obolibrary.org/obo/MONDO_0019046 |
leukodystrophy, hypomyelinating, 17 | http://purl.obolibrary.org/obo/MONDO_0054817 | http://purl.obolibrary.org/obo/MONDO_0019046 |
progressive cavitating leukoencephalopathy | http://purl.obolibrary.org/obo/MONDO_0015349 | http://purl.obolibrary.org/obo/MONDO_0019046 |
leukoencephalopathy with bilateral anterior temporal lobe cysts | http://purl.obolibrary.org/obo/MONDO_0015348 | http://purl.obolibrary.org/obo/MONDO_0019046 |
odontoleukodystrophy | http://purl.obolibrary.org/obo/MONDO_0019177 | http://purl.obolibrary.org/obo/MONDO_0019046 |
unknown leukodystrophy | http://purl.obolibrary.org/obo/MONDO_0019397 | http://purl.obolibrary.org/obo/MONDO_0019046 |
ravine syndrome | http://purl.obolibrary.org/obo/MONDO_0020505 | http://purl.obolibrary.org/obo/MONDO_0019046 |
alkaline ceramidase 3 deficiency | http://purl.obolibrary.org/obo/MONDO_0044718 | http://purl.obolibrary.org/obo/MONDO_0019046 |
Pelizaeus-Merzbacher-like disease | http://purl.obolibrary.org/obo/MONDO_0017226 | http://purl.obolibrary.org/obo/MONDO_0019046 |
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation | http://www.orpha.net/ORDO/Orphanet_280293 | http://purl.obolibrary.org/obo/MONDO_0017226 |
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation | http://www.orpha.net/ORDO/Orphanet_280288 | http://purl.obolibrary.org/obo/MONDO_0017226 |
Pelizaeus-Merzbacher-like disease due to GJC2 mutation | http://www.orpha.net/ORDO/Orphanet_280282 | http://purl.obolibrary.org/obo/MONDO_0017226 |
hypomyelinating leukodystrophy 3 | http://purl.obolibrary.org/obo/MONDO_0009843 | http://purl.obolibrary.org/obo/MONDO_0017226 |
hypomyelinating leukodystrophy 4 | http://purl.obolibrary.org/obo/MONDO_0012824 | http://purl.obolibrary.org/obo/MONDO_0017226 |
hypomyelinating leukodystrophy 2 | http://purl.obolibrary.org/obo/MONDO_0012125 | http://purl.obolibrary.org/obo/MONDO_0017226 |
Canavan disease | http://purl.obolibrary.org/obo/MONDO_0010079 | http://purl.obolibrary.org/obo/MONDO_0019046 |
severe Canavan disease | http://purl.obolibrary.org/obo/MONDO_0017830 | http://purl.obolibrary.org/obo/MONDO_0010079 |
mild Canavan disease | http://purl.obolibrary.org/obo/MONDO_0017831 | http://purl.obolibrary.org/obo/MONDO_0010079 |
Severe Canavan disease | http://www.orpha.net/ORDO/Orphanet_314911 | http://purl.obolibrary.org/obo/MONDO_0010079 |
Mild Canavan disease | http://www.orpha.net/ORDO/Orphanet_314918 | http://purl.obolibrary.org/obo/MONDO_0010079 |
hypomyelinating leukodystrophy 6 | http://purl.obolibrary.org/obo/MONDO_0012905 | http://purl.obolibrary.org/obo/MONDO_0019046 |
leukoencephalopathy with mild cerebellar ataxia and white matter edema | http://purl.obolibrary.org/obo/MONDO_0014292 | http://purl.obolibrary.org/obo/MONDO_0019046 |
progressive encephalopathy with leukodystrophy due to DECR deficiency | http://purl.obolibrary.org/obo/MONDO_0014464 | http://purl.obolibrary.org/obo/MONDO_0019046 |
ribose-5-P isomerase deficiency | http://purl.obolibrary.org/obo/MONDO_0012073 | http://purl.obolibrary.org/obo/MONDO_0019046 |
hypomyelinating leukodystrophy 10 | http://purl.obolibrary.org/obo/MONDO_0014632 | http://purl.obolibrary.org/obo/MONDO_0019046 |
hypomyelinating leukodystrophy 13 | http://purl.obolibrary.org/obo/MONDO_0014813 | http://purl.obolibrary.org/obo/MONDO_0019046 |
hypomyelination with brain stem and spinal cord involvement and leg spasticity | http://purl.obolibrary.org/obo/MONDO_0014115 | http://purl.obolibrary.org/obo/MONDO_0019046 |
Alexander disease | http://purl.obolibrary.org/obo/MONDO_0008752 | http://purl.obolibrary.org/obo/MONDO_0019046 |
Alexander disease type II | http://purl.obolibrary.org/obo/MONDO_0018210 | http://purl.obolibrary.org/obo/MONDO_0008752 |
Alexander disease type I | http://purl.obolibrary.org/obo/MONDO_0018209 | http://purl.obolibrary.org/obo/MONDO_0008752 |
hereditary spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0019064 | http://purl.obolibrary.org/obo/MONDO_0024237 |
spastic paraplegia 82, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0032906 | http://purl.obolibrary.org/obo/MONDO_0019064 |
spastic paraplegia 81, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0032905 | http://purl.obolibrary.org/obo/MONDO_0019064 |
pure hereditary spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0015149 | http://purl.obolibrary.org/obo/MONDO_0019064 |
autosomal recessive pure spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0015090 | http://purl.obolibrary.org/obo/MONDO_0015149 |
hereditary spastic paraplegia 62 | http://purl.obolibrary.org/obo/MONDO_0014302 | http://purl.obolibrary.org/obo/MONDO_0015090 |
hereditary spastic paraplegia 28 | http://purl.obolibrary.org/obo/MONDO_0012256 | http://purl.obolibrary.org/obo/MONDO_0015090 |
autosomal recessive spastic paraplegia type 71 | http://purl.obolibrary.org/obo/MONDO_0018423 | http://purl.obolibrary.org/obo/MONDO_0015090 |
autosomal dominant pure spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0015088 | http://purl.obolibrary.org/obo/MONDO_0015149 |
hereditary spastic paraplegia 8 | http://purl.obolibrary.org/obo/MONDO_0011339 | http://purl.obolibrary.org/obo/MONDO_0015088 |
hereditary spastic paraplegia 12 | http://purl.obolibrary.org/obo/MONDO_0011489 | http://purl.obolibrary.org/obo/MONDO_0015088 |
hereditary spastic paraplegia 19 | http://purl.obolibrary.org/obo/MONDO_0011785 | http://purl.obolibrary.org/obo/MONDO_0015088 |
hereditary spastic paraplegia 41 | http://purl.obolibrary.org/obo/MONDO_0013239 | http://purl.obolibrary.org/obo/MONDO_0015088 |
hereditary spastic paraplegia 37 | http://purl.obolibrary.org/obo/MONDO_0012766 | http://purl.obolibrary.org/obo/MONDO_0015088 |
hereditary spastic paraplegia 42 | http://purl.obolibrary.org/obo/MONDO_0012928 | http://purl.obolibrary.org/obo/MONDO_0015088 |
X-linked pure spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0017912 | http://purl.obolibrary.org/obo/MONDO_0015149 |
hereditary spastic paraplegia 34 | http://purl.obolibrary.org/obo/MONDO_0010418 | http://purl.obolibrary.org/obo/MONDO_0017912 |
X-linked spastic paraplegia type 34 | http://www.orpha.net/ORDO/Orphanet_171607 | http://purl.obolibrary.org/obo/MONDO_0017912 |
hereditary spastic paraplegia 72 | http://purl.obolibrary.org/obo/MONDO_0014282 | http://purl.obolibrary.org/obo/MONDO_0015149 |
pure or complex hereditary spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0017913 | http://purl.obolibrary.org/obo/MONDO_0019064 |
pure or complex X-linked spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0017916 | http://purl.obolibrary.org/obo/MONDO_0017913 |
hereditary spastic paraplegia 16 | http://purl.obolibrary.org/obo/MONDO_0010287 | http://purl.obolibrary.org/obo/MONDO_0017916 |
pure or complex autosomal recessive spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0017915 | http://purl.obolibrary.org/obo/MONDO_0017913 |
hereditary spastic paraplegia 14 | http://purl.obolibrary.org/obo/MONDO_0011522 | http://purl.obolibrary.org/obo/MONDO_0017915 |
hereditary spastic paraplegia 48 | http://purl.obolibrary.org/obo/MONDO_0013342 | http://purl.obolibrary.org/obo/MONDO_0017915 |
hereditary spastic paraplegia 30 | http://purl.obolibrary.org/obo/MONDO_0012476 | http://purl.obolibrary.org/obo/MONDO_0017915 |
hereditary spastic paraplegia 5A | http://purl.obolibrary.org/obo/MONDO_0010047 | http://purl.obolibrary.org/obo/MONDO_0017915 |
hereditary spastic paraplegia 35 | http://purl.obolibrary.org/obo/MONDO_0012866 | http://purl.obolibrary.org/obo/MONDO_0017915 |
mast syndrome | http://purl.obolibrary.org/obo/MONDO_0009568 | http://purl.obolibrary.org/obo/MONDO_0017915 |
hereditary spastic paraplegia 56 | http://purl.obolibrary.org/obo/MONDO_0014015 | http://purl.obolibrary.org/obo/MONDO_0017915 |
pure or complex autosomal dominant spastic paraplegia | http://purl.obolibrary.org/obo/MONDO_0017914 | http://purl.obolibrary.org/obo/MONDO_0017913 |
hereditary spastic paraplegia 10 | http://purl.obolibrary.org/obo/MONDO_0011408 | http://purl.obolibrary.org/obo/MONDO_0017914 |
hereditary spastic paraplegia 13 | http://purl.obolibrary.org/obo/MONDO_0011532 | http://purl.obolibrary.org/obo/MONDO_0017914 |
hereditary spastic paraplegia 6 | http://purl.obolibrary.org/obo/MONDO_0010878 | http://purl.obolibrary.org/obo/MONDO_0017914 |
hereditary spastic paraplegia 31 | http://purl.obolibrary.org/obo/MONDO_0012453 | http://purl.obolibrary.org/obo/MONDO_0017914 |
hereditary spastic paraplegia 3A | http://purl.obolibrary.org/obo/MONDO_0008437 | http://purl.obolibrary.org/obo/MONDO_0017914 |
hereditary spastic paraplegia 4 | http://purl.obolibrary.org/obo/MONDO_0008438 | http://purl.obolibrary.org/obo/MONDO_0017914 |
spastic paraplegia 80, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0032737 | http://purl.obolibrary.org/obo/MONDO_0019064 |
spastic paraplegia 83, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0033614 | http://purl.obolibrary.org/obo/MONDO_0019064 |
frontotemporal dementia and/or amyotrophic lateral sclerosis | http://purl.obolibrary.org/obo/MONDO_0030923 | http://purl.obolibrary.org/obo/MONDO_0024237 |
GM2 gangliosidosis | http://purl.obolibrary.org/obo/MONDO_0017720 | http://purl.obolibrary.org/obo/MONDO_0024237 |
Tay-Sachs disease AB variant | http://purl.obolibrary.org/obo/MONDO_0010099 | http://purl.obolibrary.org/obo/MONDO_0017720 |
GM2-gangliosidosis, AB variant | http://www.orpha.net/ORDO/Orphanet_309246 | http://purl.obolibrary.org/obo/MONDO_0017720 |
early-onset autosomal dominant Alzheimer disease | http://purl.obolibrary.org/obo/MONDO_0015140 | http://purl.obolibrary.org/obo/MONDO_0024237 |
tuberous sclerosis | http://purl.obolibrary.org/obo/MONDO_0001734 | http://purl.obolibrary.org/obo/MONDO_0024237 |
neurodegenerative syndrome due to cerebral folate transport deficiency | http://purl.obolibrary.org/obo/MONDO_0013110 | http://purl.obolibrary.org/obo/MONDO_0024237 |
tauopathy | http://www.ebi.ac.uk/efo/EFO_0005815 | http://www.ebi.ac.uk/efo/EFO_0005772 |
Alzheimer disease | http://purl.obolibrary.org/obo/MONDO_0004975 | http://www.ebi.ac.uk/efo/EFO_0005815 |
late-onset Alzheimers disease | http://www.ebi.ac.uk/efo/EFO_1001870 | http://purl.obolibrary.org/obo/MONDO_0004975 |
familial Alzheimer disease | http://purl.obolibrary.org/obo/MONDO_0100087 | http://purl.obolibrary.org/obo/MONDO_0004975 |
Primary progressive aphasia | http://www.ebi.ac.uk/efo/EFO_0009053 | http://www.ebi.ac.uk/efo/EFO_0005772 |
brain disease | http://www.ebi.ac.uk/efo/EFO_0005774 | http://www.ebi.ac.uk/efo/EFO_0009386 |
obstructive hydrocephalus | http://purl.obolibrary.org/obo/MONDO_0001896 | http://www.ebi.ac.uk/efo/EFO_0005774 |
pseudobulbar palsy | http://www.ebi.ac.uk/efo/EFO_1001131 | http://www.ebi.ac.uk/efo/EFO_0005774 |
kernicterus | http://www.ebi.ac.uk/efo/EFO_1001002 | http://www.ebi.ac.uk/efo/EFO_0005774 |
Pneumocephalus | http://www.ebi.ac.uk/efo/EFO_1001398 | http://www.ebi.ac.uk/efo/EFO_0005774 |
Wernicke encephalopathy | http://www.ebi.ac.uk/efo/EFO_1001241 | http://www.ebi.ac.uk/efo/EFO_0005774 |
brain compression | http://purl.obolibrary.org/obo/MONDO_0001291 | http://www.ebi.ac.uk/efo/EFO_0005774 |
cerebral cortex disorder | http://purl.obolibrary.org/obo/MONDO_0044996 | http://www.ebi.ac.uk/efo/EFO_0005774 |
hippocampal sclerosis of aging | http://www.ebi.ac.uk/efo/EFO_0005678 | http://purl.obolibrary.org/obo/MONDO_0044996 |
cerebral palsy | http://www.ebi.ac.uk/efo/EFO_1000632 | http://purl.obolibrary.org/obo/MONDO_0044996 |
spastic cerebral palsy | http://purl.obolibrary.org/obo/MONDO_0000396 | http://www.ebi.ac.uk/efo/EFO_1000632 |
spastic monoplegia | http://purl.obolibrary.org/obo/MONDO_0001169 | http://purl.obolibrary.org/obo/MONDO_0000396 |
spastic quadriplegic cerebral palsy | http://purl.obolibrary.org/obo/MONDO_0016215 | http://purl.obolibrary.org/obo/MONDO_0000396 |
neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | http://purl.obolibrary.org/obo/MONDO_0033613 | http://purl.obolibrary.org/obo/MONDO_0016215 |
thalamic disorder | http://purl.obolibrary.org/obo/MONDO_0003081 | http://www.ebi.ac.uk/efo/EFO_0005774 |
hypothalamic disorder | http://purl.obolibrary.org/obo/MONDO_0002150 | http://purl.obolibrary.org/obo/MONDO_0003081 |
disorder of medulla oblongata | http://purl.obolibrary.org/obo/MONDO_0015141 | http://www.ebi.ac.uk/efo/EFO_0005774 |
ataxia-pancytopenia syndrome | http://purl.obolibrary.org/obo/MONDO_0008038 | http://purl.obolibrary.org/obo/MONDO_0015141 |
primary basilar invagination | http://purl.obolibrary.org/obo/MONDO_0007188 | http://purl.obolibrary.org/obo/MONDO_0015141 |
neurometabolic disease | http://purl.obolibrary.org/obo/MONDO_0019058 | http://www.ebi.ac.uk/efo/EFO_0005774 |
COG6-CGD | http://purl.obolibrary.org/obo/MONDO_0013810 | http://purl.obolibrary.org/obo/MONDO_0019058 |
DDOST-CDG | http://purl.obolibrary.org/obo/MONDO_0013789 | http://purl.obolibrary.org/obo/MONDO_0019058 |
congenital disorder of glycosylation type 1C | http://purl.obolibrary.org/obo/MONDO_0011291 | http://purl.obolibrary.org/obo/MONDO_0019058 |
SLC35A1-CDG | http://purl.obolibrary.org/obo/MONDO_0011342 | http://purl.obolibrary.org/obo/MONDO_0019058 |
MOGS-CDG | http://purl.obolibrary.org/obo/MONDO_0011629 | http://purl.obolibrary.org/obo/MONDO_0019058 |
glycine encephalopathy | http://purl.obolibrary.org/obo/MONDO_0011612 | http://purl.obolibrary.org/obo/MONDO_0019058 |
neonatal glycine encephalopathy | http://purl.obolibrary.org/obo/MONDO_0017353 | http://purl.obolibrary.org/obo/MONDO_0011612 |
infantile glycine encephalopathy | http://purl.obolibrary.org/obo/MONDO_0017354 | http://purl.obolibrary.org/obo/MONDO_0011612 |
atypical glycine encephalopathy | http://purl.obolibrary.org/obo/MONDO_0015010 | http://purl.obolibrary.org/obo/MONDO_0011612 |
ALG12-CDG | http://purl.obolibrary.org/obo/MONDO_0011783 | http://purl.obolibrary.org/obo/MONDO_0019058 |
biotin-responsive basal ganglia disease | http://purl.obolibrary.org/obo/MONDO_0011841 | http://purl.obolibrary.org/obo/MONDO_0019058 |
ALG8-CDG | http://purl.obolibrary.org/obo/MONDO_0011969 | http://purl.obolibrary.org/obo/MONDO_0019058 |
DPAGT1-CDG | http://purl.obolibrary.org/obo/MONDO_0011964 | http://purl.obolibrary.org/obo/MONDO_0019058 |
ALG2-CDG | http://purl.obolibrary.org/obo/MONDO_0011933 | http://purl.obolibrary.org/obo/MONDO_0019058 |
beta-ureidopropionase deficiency | http://purl.obolibrary.org/obo/MONDO_0013164 | http://purl.obolibrary.org/obo/MONDO_0019058 |
GABA aminotransferase deficiency | http://purl.obolibrary.org/obo/MONDO_0013166 | http://purl.obolibrary.org/obo/MONDO_0019058 |
COG4-CDG | http://purl.obolibrary.org/obo/MONDO_0013281 | http://purl.obolibrary.org/obo/MONDO_0019058 |
ALG11-CDG | http://purl.obolibrary.org/obo/MONDO_0013349 | http://purl.obolibrary.org/obo/MONDO_0019058 |
congenital disorder of glycosylation, type IIq | http://purl.obolibrary.org/obo/MONDO_0054559 | http://purl.obolibrary.org/obo/MONDO_0019058 |
phenylketonuria | http://purl.obolibrary.org/obo/MONDO_0009861 | http://purl.obolibrary.org/obo/MONDO_0019058 |
tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria | http://purl.obolibrary.org/obo/MONDO_0017389 | http://purl.obolibrary.org/obo/MONDO_0009861 |
classic phenylketonuria | http://purl.obolibrary.org/obo/MONDO_0019259 | http://purl.obolibrary.org/obo/MONDO_0009861 |
mild phenylketonuria | http://purl.obolibrary.org/obo/MONDO_0019258 | http://purl.obolibrary.org/obo/MONDO_0009861 |
mild hyperphenylalaninemia | http://purl.obolibrary.org/obo/MONDO_0019335 | http://purl.obolibrary.org/obo/MONDO_0009861 |
folinic acid-responsive seizures | http://purl.obolibrary.org/obo/MONDO_0019197 | http://purl.obolibrary.org/obo/MONDO_0019058 |
free sialic acid storage disease | http://purl.obolibrary.org/obo/MONDO_0019366 | http://purl.obolibrary.org/obo/MONDO_0019058 |
Salla disease | http://purl.obolibrary.org/obo/MONDO_0011449 | http://purl.obolibrary.org/obo/MONDO_0019366 |
intermediate severe Salla disease | http://purl.obolibrary.org/obo/MONDO_0017737 | http://purl.obolibrary.org/obo/MONDO_0019366 |
free sialic acid storage disease, infantile form | http://purl.obolibrary.org/obo/MONDO_0010027 | http://purl.obolibrary.org/obo/MONDO_0019366 |
sialuria | http://purl.obolibrary.org/obo/MONDO_0010028 | http://purl.obolibrary.org/obo/MONDO_0019366 |
ALG3-CDG | http://purl.obolibrary.org/obo/MONDO_0010998 | http://purl.obolibrary.org/obo/MONDO_0019058 |
leukocyte adhesion deficiency type II | http://purl.obolibrary.org/obo/MONDO_0009953 | http://purl.obolibrary.org/obo/MONDO_0019058 |
pyridoxine-dependent epilepsy | http://purl.obolibrary.org/obo/MONDO_0009945 | http://purl.obolibrary.org/obo/MONDO_0019058 |
pyridoxal phosphate-responsive seizures | http://purl.obolibrary.org/obo/MONDO_0012407 | http://purl.obolibrary.org/obo/MONDO_0019058 |
COG8-CDG | http://purl.obolibrary.org/obo/MONDO_0012635 | http://purl.obolibrary.org/obo/MONDO_0019058 |
encephalopathy due to prosaposin deficiency | http://purl.obolibrary.org/obo/MONDO_0012719 | http://purl.obolibrary.org/obo/MONDO_0019058 |
succinic semialdehyde dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0010083 | http://purl.obolibrary.org/obo/MONDO_0019058 |
Farber lipogranulomatosis | http://purl.obolibrary.org/obo/MONDO_0009218 | http://purl.obolibrary.org/obo/MONDO_0019058 |
urocanic aciduria | http://purl.obolibrary.org/obo/MONDO_0010167 | http://purl.obolibrary.org/obo/MONDO_0019058 |
AGAT deficiency | http://purl.obolibrary.org/obo/MONDO_0012996 | http://purl.obolibrary.org/obo/MONDO_0019058 |
Hartnup disease | http://purl.obolibrary.org/obo/MONDO_0009324 | http://purl.obolibrary.org/obo/MONDO_0019058 |
glutaryl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0009281 | http://purl.obolibrary.org/obo/MONDO_0019058 |
hyperprolinemia type 1 | http://purl.obolibrary.org/obo/MONDO_0009400 | http://purl.obolibrary.org/obo/MONDO_0019058 |
hyperprolinemia type 2 | http://purl.obolibrary.org/obo/MONDO_0009401 | http://purl.obolibrary.org/obo/MONDO_0019058 |
Brunner syndrome | http://purl.obolibrary.org/obo/MONDO_0010379 | http://purl.obolibrary.org/obo/MONDO_0019058 |
encephalopathy due to hydroxykynureninuria | http://purl.obolibrary.org/obo/MONDO_0009372 | http://purl.obolibrary.org/obo/MONDO_0019058 |
guanidinoacetate methyltransferase deficiency | http://purl.obolibrary.org/obo/MONDO_0012999 | http://purl.obolibrary.org/obo/MONDO_0019058 |
developmental and epileptic encephalopathy, 36 | http://purl.obolibrary.org/obo/MONDO_0010472 | http://purl.obolibrary.org/obo/MONDO_0019058 |
3-hydroxyisobutyryl-CoA hydrolase deficiency | http://purl.obolibrary.org/obo/MONDO_0009603 | http://purl.obolibrary.org/obo/MONDO_0019058 |
methionine adenosyltransferase deficiency | http://purl.obolibrary.org/obo/MONDO_0009607 | http://purl.obolibrary.org/obo/MONDO_0019058 |
STT3A-CDG | http://purl.obolibrary.org/obo/MONDO_0014270 | http://purl.obolibrary.org/obo/MONDO_0019058 |
STT3B-CDG | http://purl.obolibrary.org/obo/MONDO_0014271 | http://purl.obolibrary.org/obo/MONDO_0019058 |
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0014258 | http://purl.obolibrary.org/obo/MONDO_0019058 |
aromatic L-amino acid decarboxylase deficiency | http://purl.obolibrary.org/obo/MONDO_0012084 | http://purl.obolibrary.org/obo/MONDO_0019058 |
ALG1-CDG | http://purl.obolibrary.org/obo/MONDO_0012052 | http://purl.obolibrary.org/obo/MONDO_0019058 |
GLUT1 deficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0000188 | http://purl.obolibrary.org/obo/MONDO_0019058 |
encephalopathy due to GLUT1 deficiency | http://purl.obolibrary.org/obo/MONDO_0011724 | http://purl.obolibrary.org/obo/MONDO_0000188 |
congenital disorder of glycosylation type 1E | http://purl.obolibrary.org/obo/MONDO_0012123 | http://purl.obolibrary.org/obo/MONDO_0019058 |
bilirubin encephalopathy | http://purl.obolibrary.org/obo/MONDO_0018477 | http://purl.obolibrary.org/obo/MONDO_0019058 |
PMM2-CDG | http://purl.obolibrary.org/obo/MONDO_0008907 | http://purl.obolibrary.org/obo/MONDO_0019058 |
MAN1B1-CDG | http://purl.obolibrary.org/obo/MONDO_0018349 | http://purl.obolibrary.org/obo/MONDO_0019058 |
GM3 synthase deficiency | http://purl.obolibrary.org/obo/MONDO_0018274 | http://purl.obolibrary.org/obo/MONDO_0019058 |
neurometabolic disorder due to serine deficiency | http://purl.obolibrary.org/obo/MONDO_0018162 | http://purl.obolibrary.org/obo/MONDO_0019058 |
3-phosphoglycerate dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0018491 | http://purl.obolibrary.org/obo/MONDO_0018162 |
adenosine kinase deficiency | http://purl.obolibrary.org/obo/MONDO_0100255 | http://purl.obolibrary.org/obo/MONDO_0019058 |
tyrosine hydroxylase deficiency | http://purl.obolibrary.org/obo/MONDO_0100064 | http://purl.obolibrary.org/obo/MONDO_0019058 |
2-hydroxyglutaric aciduria | http://purl.obolibrary.org/obo/MONDO_0016001 | http://purl.obolibrary.org/obo/MONDO_0019058 |
D-2-hydroxyglutaric aciduria | http://purl.obolibrary.org/obo/MONDO_0010924 | http://purl.obolibrary.org/obo/MONDO_0016001 |
L-2-hydroxyglutaric aciduria | http://purl.obolibrary.org/obo/MONDO_0009370 | http://purl.obolibrary.org/obo/MONDO_0016001 |
D,L-2-hydroxyglutaric aciduria | http://purl.obolibrary.org/obo/MONDO_0014072 | http://purl.obolibrary.org/obo/MONDO_0016001 |
aminoacylase 1 deficiency | http://purl.obolibrary.org/obo/MONDO_0012368 | http://purl.obolibrary.org/obo/MONDO_0019058 |
2-methylbutyryl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0012392 | http://purl.obolibrary.org/obo/MONDO_0019058 |
congenital brain dysgenesis due to glutamine synthetase deficiency | http://purl.obolibrary.org/obo/MONDO_0012393 | http://purl.obolibrary.org/obo/MONDO_0019058 |
glutaminase deficiency | http://purl.obolibrary.org/obo/MONDO_0600001 | http://purl.obolibrary.org/obo/MONDO_0019058 |
MPDU1-CDG | http://purl.obolibrary.org/obo/MONDO_0012211 | http://purl.obolibrary.org/obo/MONDO_0019058 |
ALG9-CDG | http://purl.obolibrary.org/obo/MONDO_0012117 | http://purl.obolibrary.org/obo/MONDO_0019058 |
cerebral organic aciduria | http://purl.obolibrary.org/obo/MONDO_0019213 | http://www.ebi.ac.uk/efo/EFO_0005774 |
inborn aminoacylase deficiency | http://purl.obolibrary.org/obo/MONDO_0017686 | http://purl.obolibrary.org/obo/MONDO_0019213 |
cerebral creatine deficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0000456 | http://purl.obolibrary.org/obo/MONDO_0019213 |
Arginine:glycine amidinotransferase deficiency | http://www.orpha.net/ORDO/Orphanet_35704 | http://purl.obolibrary.org/obo/MONDO_0000456 |
Guanidinoacetate methyltransferase deficiency | http://www.orpha.net/ORDO/Orphanet_382 | http://purl.obolibrary.org/obo/MONDO_0000456 |
holocarboxylase synthetase deficiency | http://purl.obolibrary.org/obo/MONDO_0009666 | http://purl.obolibrary.org/obo/MONDO_0019213 |
Shaken Baby Syndrome | http://www.ebi.ac.uk/efo/EFO_1001423 | http://www.ebi.ac.uk/efo/EFO_0005774 |
migraine disorder | http://purl.obolibrary.org/obo/MONDO_0005277 | http://www.ebi.ac.uk/efo/EFO_0005774 |
migraine with aura | http://purl.obolibrary.org/obo/MONDO_0005475 | http://purl.obolibrary.org/obo/MONDO_0005277 |
familial or sporadic hemiplegic migraine | http://purl.obolibrary.org/obo/MONDO_0018925 | http://purl.obolibrary.org/obo/MONDO_0005475 |
familial hemiplegic migraine | http://purl.obolibrary.org/obo/MONDO_0000700 | http://purl.obolibrary.org/obo/MONDO_0018925 |
migraine, familial hemiplegic, 3 | http://purl.obolibrary.org/obo/MONDO_0012320 | http://purl.obolibrary.org/obo/MONDO_0000700 |
migraine without aura | http://purl.obolibrary.org/obo/MONDO_0100431 | http://purl.obolibrary.org/obo/MONDO_0005277 |
diabetic encephalopathy | http://purl.obolibrary.org/obo/MONDO_0000489 | http://www.ebi.ac.uk/efo/EFO_0005774 |
cerebrovascular disorder | http://www.ebi.ac.uk/efo/EFO_0003763 | http://www.ebi.ac.uk/efo/EFO_0005774 |
brain infarction | http://www.ebi.ac.uk/efo/EFO_0004277 | http://www.ebi.ac.uk/efo/EFO_0003763 |
MRI defined brain infarct | http://www.ebi.ac.uk/efo/EFO_0004715 | http://www.ebi.ac.uk/efo/EFO_0004277 |
Vertebrobasilar insufficiency | http://www.ebi.ac.uk/efo/EFO_1001449 | http://www.ebi.ac.uk/efo/EFO_0004277 |
cerebral infarction | http://purl.obolibrary.org/obo/MONDO_0002679 | http://www.ebi.ac.uk/efo/EFO_0004277 |
posterior cerebral artery infarction | http://www.ebi.ac.uk/efo/EFO_1001118 | http://purl.obolibrary.org/obo/MONDO_0002679 |
middle cerebral artery infarction | http://www.ebi.ac.uk/efo/EFO_1001045 | http://purl.obolibrary.org/obo/MONDO_0002679 |
multi-infarct dementia | http://purl.obolibrary.org/obo/MONDO_0043224 | http://purl.obolibrary.org/obo/MONDO_0002679 |
anterior cerebral artery infarction | http://www.ebi.ac.uk/efo/EFO_1000807 | http://purl.obolibrary.org/obo/MONDO_0002679 |
brain stem infarction | http://www.ebi.ac.uk/efo/EFO_1000847 | http://www.ebi.ac.uk/efo/EFO_0004277 |
vascular brain injury | http://www.ebi.ac.uk/efo/EFO_0006791 | http://www.ebi.ac.uk/efo/EFO_0003763 |
pseudotumor cerebri | http://www.ebi.ac.uk/efo/EFO_1001132 | http://www.ebi.ac.uk/efo/EFO_0003763 |
vascular dementia | http://www.ebi.ac.uk/efo/EFO_0004718 | http://www.ebi.ac.uk/efo/EFO_0003763 |
intracranial subdural hematoma | http://www.ebi.ac.uk/efo/EFO_1001801 | http://www.ebi.ac.uk/efo/EFO_0003763 |
cerebral small vessel disease | http://www.ebi.ac.uk/efo/EFO_0008493 | http://www.ebi.ac.uk/efo/EFO_0003763 |
cerebral amyloid angiopathy | http://www.ebi.ac.uk/efo/EFO_0006790 | http://www.ebi.ac.uk/efo/EFO_0008493 |
cerebral amyloid angiopathy, APP-related | http://purl.obolibrary.org/obo/MONDO_0011583 | http://www.ebi.ac.uk/efo/EFO_0006790 |
ABeta amyloidosis, dutch type | http://purl.obolibrary.org/obo/MONDO_0015033 | http://purl.obolibrary.org/obo/MONDO_0011583 |
ABeta amyloidosis, Arctic type | http://purl.obolibrary.org/obo/MONDO_0017949 | http://purl.obolibrary.org/obo/MONDO_0011583 |
ABetaA21G amyloidosis | http://purl.obolibrary.org/obo/MONDO_0017948 | http://purl.obolibrary.org/obo/MONDO_0011583 |
ABeta amyloidosis, Italian type | http://purl.obolibrary.org/obo/MONDO_0017947 | http://purl.obolibrary.org/obo/MONDO_0011583 |
ABeta amyloidosis, Iowa type | http://purl.obolibrary.org/obo/MONDO_0017946 | http://purl.obolibrary.org/obo/MONDO_0011583 |
ABetaL34V amyloidosis | http://purl.obolibrary.org/obo/MONDO_0017945 | http://purl.obolibrary.org/obo/MONDO_0011583 |
ACys amyloidosis | http://purl.obolibrary.org/obo/MONDO_0007098 | http://www.ebi.ac.uk/efo/EFO_0006790 |
pontine autosomal dominant microangiopathy with leukoencephalopathy | http://purl.obolibrary.org/obo/MONDO_0018786 | http://www.ebi.ac.uk/efo/EFO_0008493 |
COL4A1 or COL4A2-related cerebral small vessel disease | http://purl.obolibrary.org/obo/MONDO_0018788 | http://www.ebi.ac.uk/efo/EFO_0008493 |
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | http://purl.obolibrary.org/obo/MONDO_0012726 | http://purl.obolibrary.org/obo/MONDO_0018788 |
HTRA1-related cerebral small vessel disease | http://purl.obolibrary.org/obo/MONDO_0018831 | http://www.ebi.ac.uk/efo/EFO_0008493 |
brain ischemia | http://purl.obolibrary.org/obo/MONDO_0005299 | http://www.ebi.ac.uk/efo/EFO_0003763 |
transient ischemic attack | http://www.ebi.ac.uk/efo/EFO_0003764 | http://purl.obolibrary.org/obo/MONDO_0005299 |
cerebral artery occlusion | http://purl.obolibrary.org/obo/MONDO_0000944 | http://www.ebi.ac.uk/efo/EFO_0003763 |
carotid artery disease | http://www.ebi.ac.uk/efo/EFO_0003781 | http://www.ebi.ac.uk/efo/EFO_0003763 |
internal carotid artery stenosis | http://www.ebi.ac.uk/efo/EFO_0002615 | http://www.ebi.ac.uk/efo/EFO_0003781 |
carotid atherosclerosis | http://www.ebi.ac.uk/efo/EFO_0009783 | http://www.ebi.ac.uk/efo/EFO_0003781 |
carotid artery thrombosis | http://www.ebi.ac.uk/efo/EFO_1000853 | http://www.ebi.ac.uk/efo/EFO_0003781 |
intracranial thrombosis | http://purl.obolibrary.org/obo/MONDO_0002907 | http://www.ebi.ac.uk/efo/EFO_0003763 |
subarachnoid hemorrhage | http://www.ebi.ac.uk/efo/EFO_0000713 | http://www.ebi.ac.uk/efo/EFO_0003763 |
stroke | http://www.ebi.ac.uk/efo/EFO_0000712 | http://www.ebi.ac.uk/efo/EFO_0003763 |
Spinal Cord Ischemia | http://www.ebi.ac.uk/efo/EFO_1001426 | http://www.ebi.ac.uk/efo/EFO_0000712 |
small vessel stroke | http://www.ebi.ac.uk/efo/EFO_1001504 | http://www.ebi.ac.uk/efo/EFO_0000712 |
cardioembolic stroke | http://www.ebi.ac.uk/efo/EFO_1001976 | http://www.ebi.ac.uk/efo/EFO_0000712 |
large artery stroke | http://www.ebi.ac.uk/efo/EFO_0005524 | http://www.ebi.ac.uk/efo/EFO_0000712 |
hemorrhagic stroke | http://www.ebi.ac.uk/efo/EFO_0020921 | http://www.ebi.ac.uk/efo/EFO_0000712 |
intracranial hemorrhage | http://www.ebi.ac.uk/efo/EFO_0000551 | http://www.ebi.ac.uk/efo/EFO_0003763 |
Subdural hemorrhage | http://purl.obolibrary.org/obo/HP_0100309 | http://www.ebi.ac.uk/efo/EFO_0000551 |
Brain Stem Hemorrhage, Traumatic | http://www.ebi.ac.uk/efo/EFO_1001276 | http://www.ebi.ac.uk/efo/EFO_0000551 |
intracerebral hemorrhage | http://www.ebi.ac.uk/efo/EFO_0005669 | http://www.ebi.ac.uk/efo/EFO_0000551 |
non-lobar intracerebral hemorrhage | http://www.ebi.ac.uk/efo/EFO_0010178 | http://www.ebi.ac.uk/efo/EFO_0005669 |
lobar intracerebral hemorrhage | http://www.ebi.ac.uk/efo/EFO_0010177 | http://www.ebi.ac.uk/efo/EFO_0005669 |
parenchymal hematoma | http://www.ebi.ac.uk/efo/EFO_0020101 | http://www.ebi.ac.uk/efo/EFO_0005669 |
occlusion precerebral artery | http://www.ebi.ac.uk/efo/EFO_0009677 | http://www.ebi.ac.uk/efo/EFO_0003763 |
basal ganglia cerebrovascular disease | http://www.ebi.ac.uk/efo/EFO_1000640 | http://www.ebi.ac.uk/efo/EFO_0003763 |
intracranial arterial disease | http://www.ebi.ac.uk/efo/EFO_1000990 | http://www.ebi.ac.uk/efo/EFO_0003763 |
cerebral arterial disease | http://www.ebi.ac.uk/efo/EFO_1000859 | http://www.ebi.ac.uk/efo/EFO_1000990 |
Moyamoya disease | http://purl.obolibrary.org/obo/MONDO_0016820 | http://www.ebi.ac.uk/efo/EFO_1000859 |
Moyamoya disease with early-onset achalasia | http://purl.obolibrary.org/obo/MONDO_0014331 | http://purl.obolibrary.org/obo/MONDO_0016820 |
brain aneurysm | http://www.ebi.ac.uk/efo/EFO_0003870 | http://www.ebi.ac.uk/efo/EFO_1000859 |
intracranial berry aneurysm | http://purl.obolibrary.org/obo/MONDO_0016483 | http://www.ebi.ac.uk/efo/EFO_0003870 |
aneurysm, intracranial berry, 12 | http://purl.obolibrary.org/obo/MONDO_0032891 | http://purl.obolibrary.org/obo/MONDO_0016483 |
intracranial embolism | http://www.ebi.ac.uk/efo/EFO_1000991 | http://www.ebi.ac.uk/efo/EFO_0003763 |
intracranial vasospasm | http://www.ebi.ac.uk/efo/EFO_1000994 | http://www.ebi.ac.uk/efo/EFO_0003763 |
central nervous system cyst | http://www.ebi.ac.uk/efo/EFO_0003760 | http://www.ebi.ac.uk/efo/EFO_0005774 |
central nervous system origin vertigo | http://purl.obolibrary.org/obo/MONDO_0002317 | http://www.ebi.ac.uk/efo/EFO_0005774 |
cerebellar disorder | http://purl.obolibrary.org/obo/MONDO_0002427 | http://www.ebi.ac.uk/efo/EFO_0005774 |
leukoencephalopathy, megalencephalic | http://purl.obolibrary.org/obo/MONDO_0000137 | http://www.ebi.ac.uk/efo/EFO_0005774 |
mental or behavioural disorder | http://www.ebi.ac.uk/efo/EFO_0000677 | http://www.ebi.ac.uk/efo/EFO_0005774 |
dysphoria | http://www.ebi.ac.uk/efo/EFO_0009867 | http://www.ebi.ac.uk/efo/EFO_0000677 |
agnosia | http://www.ebi.ac.uk/efo/EFO_0007136 | http://www.ebi.ac.uk/efo/EFO_0000677 |
pain agnosia | http://www.ebi.ac.uk/efo/EFO_1001484 | http://www.ebi.ac.uk/efo/EFO_0007136 |
alexithymia | http://purl.obolibrary.org/obo/MONDO_0000661 | http://www.ebi.ac.uk/efo/EFO_0007136 |
visuospatial impairment | http://www.ebi.ac.uk/efo/EFO_0009752 | http://www.ebi.ac.uk/efo/EFO_0000677 |
somatoform disorder | http://www.ebi.ac.uk/efo/EFO_0009687 | http://www.ebi.ac.uk/efo/EFO_0000677 |
nervousness | http://purl.obolibrary.org/obo/NCIT_C74532 | http://www.ebi.ac.uk/efo/EFO_0000677 |
stress-related disorder | http://www.ebi.ac.uk/efo/EFO_0010098 | http://www.ebi.ac.uk/efo/EFO_0000677 |
post-traumatic stress disorder | http://www.ebi.ac.uk/efo/EFO_0001358 | http://www.ebi.ac.uk/efo/EFO_0010098 |
acute stress reaction | http://www.ebi.ac.uk/efo/EFO_0005223 | http://www.ebi.ac.uk/efo/EFO_0010098 |
alcohol-induced mental disorder | http://purl.obolibrary.org/obo/MONDO_0002326 | http://www.ebi.ac.uk/efo/EFO_0000677 |
alcoholic psychosis | http://www.ebi.ac.uk/efo/EFO_1001260 | http://purl.obolibrary.org/obo/MONDO_0002326 |
drug dependence | http://www.ebi.ac.uk/efo/EFO_0003890 | http://www.ebi.ac.uk/efo/EFO_0000677 |
alcohol and nicotine codependence | http://www.ebi.ac.uk/efo/EFO_0004776 | http://www.ebi.ac.uk/efo/EFO_0003890 |
methamphetamine dependence | http://www.ebi.ac.uk/efo/EFO_0004701 | http://www.ebi.ac.uk/efo/EFO_0003890 |
alcohol dependence | http://purl.obolibrary.org/obo/MONDO_0007079 | http://www.ebi.ac.uk/efo/EFO_0003890 |
opioid dependence | http://www.ebi.ac.uk/efo/EFO_0005611 | http://www.ebi.ac.uk/efo/EFO_0003890 |
heroin dependence | http://www.ebi.ac.uk/efo/EFO_0004240 | http://www.ebi.ac.uk/efo/EFO_0005611 |
morphine dependence | http://www.ebi.ac.uk/efo/EFO_0005612 | http://www.ebi.ac.uk/efo/EFO_0005611 |
nicotine dependence | http://www.ebi.ac.uk/efo/EFO_0003768 | http://www.ebi.ac.uk/efo/EFO_0003890 |
cocaine dependence | http://www.ebi.ac.uk/efo/EFO_0002610 | http://www.ebi.ac.uk/efo/EFO_0003890 |
phencyclidine abuse | http://www.ebi.ac.uk/efo/EFO_0007436 | http://www.ebi.ac.uk/efo/EFO_0003890 |
cannabis dependence | http://www.ebi.ac.uk/efo/EFO_0007191 | http://www.ebi.ac.uk/efo/EFO_0003890 |
eating disorder | http://www.ebi.ac.uk/efo/EFO_0005203 | http://www.ebi.ac.uk/efo/EFO_0000677 |
anorexia nervosa | http://www.ebi.ac.uk/efo/EFO_0004215 | http://www.ebi.ac.uk/efo/EFO_0005203 |
bulimia nervosa | http://www.ebi.ac.uk/efo/EFO_0005204 | http://www.ebi.ac.uk/efo/EFO_0005203 |
binge eating | http://www.ebi.ac.uk/efo/EFO_0005924 | http://www.ebi.ac.uk/efo/EFO_0005203 |
occupation-related stress disorder | http://www.ebi.ac.uk/efo/EFO_0005250 | http://www.ebi.ac.uk/efo/EFO_0000677 |
internalizing disorder | http://www.ebi.ac.uk/efo/EFO_0020971 | http://www.ebi.ac.uk/efo/EFO_0000677 |
developmental disorder of mental health | http://www.ebi.ac.uk/efo/EFO_0005548 | http://www.ebi.ac.uk/efo/EFO_0000677 |
intellectual developmental disorder and retinitis pigmentosa; IDDRP | http://purl.obolibrary.org/obo/MONDO_0032594 | http://www.ebi.ac.uk/efo/EFO_0005548 |
non-syndromic intellectual disability | http://purl.obolibrary.org/obo/MONDO_0000509 | http://www.ebi.ac.uk/efo/EFO_0005548 |
autosomal dominant non-syndromic intellectual disability | http://purl.obolibrary.org/obo/MONDO_0015802 | http://purl.obolibrary.org/obo/MONDO_0000509 |
intellectual developmental disorder, autosomal dominant 63, with macrocephaly | http://purl.obolibrary.org/obo/MONDO_0032939 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual developmental disorder 62 | http://purl.obolibrary.org/obo/MONDO_0032919 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual disability, autosomal dominant 57 | http://purl.obolibrary.org/obo/MONDO_0054837 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual disability, autosomal dominant 51 | http://purl.obolibrary.org/obo/MONDO_0030917 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual disability, autosomal dominant 50 | http://purl.obolibrary.org/obo/MONDO_0030916 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual disability, autosomal dominant 45 | http://purl.obolibrary.org/obo/MONDO_0030910 | http://purl.obolibrary.org/obo/MONDO_0015802 |
Clark-Baraitser syndrome | http://purl.obolibrary.org/obo/MONDO_0030914 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual disability, autosomal dominant 56 | http://purl.obolibrary.org/obo/MONDO_0030922 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual developmental disorder 61 | http://purl.obolibrary.org/obo/MONDO_0032485 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual developmental disorder 59 | http://purl.obolibrary.org/obo/MONDO_0032795 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual disability, autosomal dominant 58 | http://purl.obolibrary.org/obo/MONDO_0020847 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual disability, autosomal dominant 41 | http://purl.obolibrary.org/obo/MONDO_0014842 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual disability, autosomal dominant 52 | http://www.ebi.ac.uk/efo/EFO_0009152 | http://purl.obolibrary.org/obo/MONDO_0015802 |
intellectual disability, autosomal dominant 53 | http://www.ebi.ac.uk/efo/EFO_0009165 | http://purl.obolibrary.org/obo/MONDO_0015802 |
non-syndromic X-linked intellectual disability | http://purl.obolibrary.org/obo/MONDO_0019181 | http://purl.obolibrary.org/obo/MONDO_0000509 |
intellectual disability, X-linked 106 | http://purl.obolibrary.org/obo/MONDO_0030907 | http://purl.obolibrary.org/obo/MONDO_0019181 |
intellectual disability, X-linked, with or without seizures, arx-related | http://purl.obolibrary.org/obo/MONDO_0010317 | http://purl.obolibrary.org/obo/MONDO_0019181 |
intellectual disability, X-linked 58 | http://purl.obolibrary.org/obo/MONDO_0010266 | http://purl.obolibrary.org/obo/MONDO_0019181 |
intellectual disability, X-linked 21 | http://purl.obolibrary.org/obo/MONDO_0010256 | http://purl.obolibrary.org/obo/MONDO_0019181 |
autosomal recessive non-syndromic intellectual disability | http://purl.obolibrary.org/obo/MONDO_0019502 | http://purl.obolibrary.org/obo/MONDO_0000509 |
glycosylphosphatidylinositol biosynthesis defect 16 | http://purl.obolibrary.org/obo/MONDO_0040500 | http://purl.obolibrary.org/obo/MONDO_0019502 |
intellectual disability, autosomal recessive 13 | http://purl.obolibrary.org/obo/MONDO_0013173 | http://purl.obolibrary.org/obo/MONDO_0019502 |
intellectual disability, autosomal recessive 27 | http://purl.obolibrary.org/obo/MONDO_0013702 | http://purl.obolibrary.org/obo/MONDO_0019502 |
intellectual disability, autosomal recessive 65 | http://purl.obolibrary.org/obo/MONDO_0020850 | http://purl.obolibrary.org/obo/MONDO_0019502 |
intellectual disability, autosomal recessive 64 | http://purl.obolibrary.org/obo/MONDO_0020846 | http://purl.obolibrary.org/obo/MONDO_0019502 |
intellectual disability, autosomal recessive 1 | http://purl.obolibrary.org/obo/MONDO_0009580 | http://purl.obolibrary.org/obo/MONDO_0019502 |
intellectual disability, autosomal recessive 57 | http://purl.obolibrary.org/obo/MONDO_0014962 | http://purl.obolibrary.org/obo/MONDO_0019502 |
specific developmental disorder | http://purl.obolibrary.org/obo/MONDO_0000592 | http://www.ebi.ac.uk/efo/EFO_0005548 |
conduct disorder | http://www.ebi.ac.uk/efo/EFO_0004216 | http://purl.obolibrary.org/obo/MONDO_0000592 |
attention deficit-hyperactivity disorder | http://purl.obolibrary.org/obo/MONDO_0007743 | http://purl.obolibrary.org/obo/MONDO_0000592 |
attention deficit hyperactivity disorder | http://www.ebi.ac.uk/efo/EFO_0003888 | http://purl.obolibrary.org/obo/MONDO_0007743 |
tic disorder | http://purl.obolibrary.org/obo/MONDO_0002420 | http://purl.obolibrary.org/obo/MONDO_0000592 |
learning disability | http://purl.obolibrary.org/obo/MONDO_0004681 | http://purl.obolibrary.org/obo/MONDO_0000592 |
reading disorder | http://purl.obolibrary.org/obo/MONDO_0001697 | http://purl.obolibrary.org/obo/MONDO_0004681 |
dyslexia | http://www.ebi.ac.uk/efo/EFO_0005424 | http://purl.obolibrary.org/obo/MONDO_0001697 |
communication disorder | http://purl.obolibrary.org/obo/MONDO_0002182 | http://purl.obolibrary.org/obo/MONDO_0000592 |
language disorder | http://purl.obolibrary.org/obo/MONDO_0004750 | http://purl.obolibrary.org/obo/MONDO_0002182 |
specific language impairment | http://www.ebi.ac.uk/efo/EFO_1001510 | http://purl.obolibrary.org/obo/MONDO_0004750 |
language impairment | http://www.ebi.ac.uk/efo/EFO_0005425 | http://www.ebi.ac.uk/efo/EFO_1001510 |
speech disorder | http://purl.obolibrary.org/obo/MONDO_0004730 | http://purl.obolibrary.org/obo/MONDO_0002182 |
pervasive developmental disorder | http://purl.obolibrary.org/obo/MONDO_0000594 | http://www.ebi.ac.uk/efo/EFO_0005548 |
childhood disintegrative disorder | http://purl.obolibrary.org/obo/MONDO_0015681 | http://purl.obolibrary.org/obo/MONDO_0000594 |
autism spectrum disorder | http://www.ebi.ac.uk/efo/EFO_0003756 | http://purl.obolibrary.org/obo/MONDO_0000594 |
Asperger syndrome | http://www.ebi.ac.uk/efo/EFO_0003757 | http://www.ebi.ac.uk/efo/EFO_0003756 |
autism | http://www.ebi.ac.uk/efo/EFO_0003758 | http://www.ebi.ac.uk/efo/EFO_0003756 |
pervasive developmental disorder - not otherwise specified | http://www.ebi.ac.uk/efo/EFO_0003759 | http://www.ebi.ac.uk/efo/EFO_0003756 |
atypical autism | http://purl.obolibrary.org/obo/MONDO_0016052 | http://purl.obolibrary.org/obo/MONDO_0000594 |
intellectual disability, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0100172 | http://www.ebi.ac.uk/efo/EFO_0005548 |
intellectual disability, autosomal dominant 9 | http://purl.obolibrary.org/obo/MONDO_0013656 | http://purl.obolibrary.org/obo/MONDO_0100172 |
intellectual disability, autosomal dominant 8 | http://purl.obolibrary.org/obo/MONDO_0013655 | http://purl.obolibrary.org/obo/MONDO_0100172 |
intellectual disability, autosomal dominant 39 | http://purl.obolibrary.org/obo/MONDO_0014678 | http://purl.obolibrary.org/obo/MONDO_0100172 |
X-linked intellectual disability | http://purl.obolibrary.org/obo/MONDO_0100284 | http://www.ebi.ac.uk/efo/EFO_0005548 |
decreased attention | http://purl.obolibrary.org/obo/NCIT_C117245 | http://www.ebi.ac.uk/efo/EFO_0000677 |
pathological gambling | http://www.ebi.ac.uk/efo/EFO_1001926 | http://www.ebi.ac.uk/efo/EFO_0000677 |
Sleep Disorder | http://www.ebi.ac.uk/efo/EFO_0008568 | http://www.ebi.ac.uk/efo/EFO_0000677 |
insomnia | http://www.ebi.ac.uk/efo/EFO_0004698 | http://www.ebi.ac.uk/efo/EFO_0008568 |
sleep-wake disorder | http://purl.obolibrary.org/obo/MONDO_0003406 | http://www.ebi.ac.uk/efo/EFO_0008568 |
narcolepsy | http://purl.obolibrary.org/obo/MONDO_0021107 | http://purl.obolibrary.org/obo/MONDO_0003406 |
narcolepsy without cataplexy | http://www.ebi.ac.uk/efo/EFO_0005855 | http://purl.obolibrary.org/obo/MONDO_0021107 |
narcolepsy-cataplexy syndrome | http://purl.obolibrary.org/obo/MONDO_0016158 | http://purl.obolibrary.org/obo/MONDO_0021107 |
hypersomnia | http://www.ebi.ac.uk/efo/EFO_0005246 | http://purl.obolibrary.org/obo/MONDO_0003406 |
idiopathic hypersomnia | http://purl.obolibrary.org/obo/MONDO_0018044 | http://www.ebi.ac.uk/efo/EFO_0005246 |
circadian rhythm sleep disorder | http://purl.obolibrary.org/obo/MONDO_0024361 | http://purl.obolibrary.org/obo/MONDO_0003406 |
advanced sleep phase syndrome | http://purl.obolibrary.org/obo/MONDO_0015609 | http://purl.obolibrary.org/obo/MONDO_0024361 |
recurrent hypersomnia | http://purl.obolibrary.org/obo/MONDO_0004617 | http://purl.obolibrary.org/obo/MONDO_0003406 |
REM sleep behavior disorder | http://www.ebi.ac.uk/efo/EFO_0007462 | http://purl.obolibrary.org/obo/MONDO_0003406 |
sleepiness | http://purl.obolibrary.org/obo/NCIT_C95746 | http://www.ebi.ac.uk/efo/EFO_0008568 |
substance-induced sleep disorder | http://www.ebi.ac.uk/efo/EFO_0009843 | http://www.ebi.ac.uk/efo/EFO_0008568 |
post-concussion syndrome | http://www.ebi.ac.uk/efo/EFO_1001827 | http://www.ebi.ac.uk/efo/EFO_0000677 |
cognitive disorder | http://www.ebi.ac.uk/efo/EFO_1001457 | http://www.ebi.ac.uk/efo/EFO_0000677 |
amnestic disorder | http://purl.obolibrary.org/obo/MONDO_0001152 | http://www.ebi.ac.uk/efo/EFO_1001457 |
alcohol amnestic disorder | http://www.ebi.ac.uk/efo/EFO_1001759 | http://purl.obolibrary.org/obo/MONDO_0001152 |
dementia | http://purl.obolibrary.org/obo/MONDO_0001627 | http://www.ebi.ac.uk/efo/EFO_1001457 |
genetic dementia | http://purl.obolibrary.org/obo/MONDO_0015547 | http://purl.obolibrary.org/obo/MONDO_0001627 |
cerebral lipidosis with dementia | http://purl.obolibrary.org/obo/MONDO_0020143 | http://purl.obolibrary.org/obo/MONDO_0015547 |
bilateral striopallidodentate calcinosis | http://purl.obolibrary.org/obo/MONDO_0008947 | http://purl.obolibrary.org/obo/MONDO_0015547 |
basal ganglia calcification, idiopathic, 8, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0032938 | http://purl.obolibrary.org/obo/MONDO_0008947 |
basal ganglia calcification, idiopathic, 6 | http://purl.obolibrary.org/obo/MONDO_0014628 | http://purl.obolibrary.org/obo/MONDO_0008947 |
cerebrovascular dementia | http://purl.obolibrary.org/obo/MONDO_0020144 | http://purl.obolibrary.org/obo/MONDO_0001627 |
AIDS dementia | http://www.ebi.ac.uk/efo/EFO_0002608 | http://purl.obolibrary.org/obo/MONDO_0001627 |
amnesia | http://www.ebi.ac.uk/efo/EFO_1001454 | http://www.ebi.ac.uk/efo/EFO_1001457 |
psychosis | http://www.ebi.ac.uk/efo/EFO_0005407 | http://www.ebi.ac.uk/efo/EFO_1001457 |
schizophrenia | http://purl.obolibrary.org/obo/MONDO_0005090 | http://www.ebi.ac.uk/efo/EFO_0005407 |
treatment refractory schizophrenia | http://www.ebi.ac.uk/efo/EFO_0004609 | http://purl.obolibrary.org/obo/MONDO_0005090 |
schizoaffective disorder | http://www.ebi.ac.uk/efo/EFO_0005411 | http://www.ebi.ac.uk/efo/EFO_0005407 |
Schizoaffective disorder-bipolar type | http://www.ebi.ac.uk/efo/EFO_0009965 | http://www.ebi.ac.uk/efo/EFO_0005411 |
methamphetamine-induced psychosis | http://www.ebi.ac.uk/efo/EFO_0005242 | http://www.ebi.ac.uk/efo/EFO_0005407 |
delusional disorder | http://purl.obolibrary.org/obo/MONDO_0004359 | http://www.ebi.ac.uk/efo/EFO_0005407 |
substance-induced psychosis | http://purl.obolibrary.org/obo/MONDO_0004630 | http://www.ebi.ac.uk/efo/EFO_0005407 |
drug psychosis | http://www.ebi.ac.uk/efo/EFO_1000902 | http://purl.obolibrary.org/obo/MONDO_0004630 |
delirium | http://www.ebi.ac.uk/efo/EFO_0009267 | http://www.ebi.ac.uk/efo/EFO_1001457 |
gender identity disorder | http://www.ebi.ac.uk/efo/EFO_0008587 | http://www.ebi.ac.uk/efo/EFO_0000677 |
childhood gender nonconformity | http://www.ebi.ac.uk/efo/EFO_0020103 | http://www.ebi.ac.uk/efo/EFO_0008587 |
adjustment disorder | http://purl.obolibrary.org/obo/MONDO_0003265 | http://www.ebi.ac.uk/efo/EFO_0000677 |
drug-induced mental disorder | http://purl.obolibrary.org/obo/MONDO_0001423 | http://www.ebi.ac.uk/efo/EFO_0000677 |
anxiety disorder | http://www.ebi.ac.uk/efo/EFO_0006788 | http://www.ebi.ac.uk/efo/EFO_0000677 |
panic disorder | http://www.ebi.ac.uk/efo/EFO_0004262 | http://www.ebi.ac.uk/efo/EFO_0006788 |
panic disorder without agoraphobia | http://www.ebi.ac.uk/efo/EFO_1001907 | http://www.ebi.ac.uk/efo/EFO_0004262 |
panic disorder with agoraphobia | http://www.ebi.ac.uk/efo/EFO_1001906 | http://www.ebi.ac.uk/efo/EFO_0004262 |
obsessive-compulsive disorder | http://www.ebi.ac.uk/efo/EFO_0004242 | http://www.ebi.ac.uk/efo/EFO_0006788 |
neurotic disorder | http://www.ebi.ac.uk/efo/EFO_0004257 | http://www.ebi.ac.uk/efo/EFO_0006788 |
generalized anxiety disorder | http://www.ebi.ac.uk/efo/EFO_1001892 | http://www.ebi.ac.uk/efo/EFO_0006788 |
separation anxiety disorder | http://www.ebi.ac.uk/efo/EFO_1001916 | http://www.ebi.ac.uk/efo/EFO_0006788 |
phobic disorder | http://www.ebi.ac.uk/efo/EFO_1001908 | http://www.ebi.ac.uk/efo/EFO_0006788 |
agoraphobia | http://www.ebi.ac.uk/efo/EFO_1001872 | http://www.ebi.ac.uk/efo/EFO_1001908 |
specific phobia | http://www.ebi.ac.uk/efo/EFO_1001918 | http://www.ebi.ac.uk/efo/EFO_1001908 |
dental phobia | http://www.ebi.ac.uk/efo/EFO_1001884 | http://www.ebi.ac.uk/efo/EFO_1001918 |
blood-injection-injury phobia | http://www.ebi.ac.uk/efo/EFO_1001878 | http://www.ebi.ac.uk/efo/EFO_1001918 |
animal phobia | http://www.ebi.ac.uk/efo/EFO_1001876 | http://www.ebi.ac.uk/efo/EFO_1001918 |
flying phobia | http://www.ebi.ac.uk/efo/EFO_1001889 | http://www.ebi.ac.uk/efo/EFO_1001918 |
nosophobia | http://www.ebi.ac.uk/efo/EFO_1001903 | http://www.ebi.ac.uk/efo/EFO_1001918 |
cancerophobia | http://www.ebi.ac.uk/efo/EFO_1001879 | http://www.ebi.ac.uk/efo/EFO_1001903 |
AIDS phobia | http://www.ebi.ac.uk/efo/EFO_1001873 | http://www.ebi.ac.uk/efo/EFO_1001903 |
social anxiety disorder | http://www.ebi.ac.uk/efo/EFO_1001917 | http://www.ebi.ac.uk/efo/EFO_1001908 |
mixed anxiety and depressive disorder | http://purl.obolibrary.org/obo/MONDO_0041086 | http://www.ebi.ac.uk/efo/EFO_0006788 |
mood disorder | http://www.ebi.ac.uk/efo/EFO_0004247 | http://www.ebi.ac.uk/efo/EFO_0000677 |
dysthymic disorder | http://www.ebi.ac.uk/efo/EFO_0008623 | http://www.ebi.ac.uk/efo/EFO_0004247 |
unipolar depression | http://www.ebi.ac.uk/efo/EFO_0003761 | http://www.ebi.ac.uk/efo/EFO_0004247 |
postpartum depression | http://www.ebi.ac.uk/efo/EFO_0007453 | http://www.ebi.ac.uk/efo/EFO_0003761 |
treatment resistant depression | http://www.ebi.ac.uk/efo/EFO_0009854 | http://www.ebi.ac.uk/efo/EFO_0003761 |
bipolar disorder | http://www.ebi.ac.uk/efo/EFO_0000289 | http://www.ebi.ac.uk/efo/EFO_0004247 |
bipolar II disorder | http://www.ebi.ac.uk/efo/EFO_0009964 | http://www.ebi.ac.uk/efo/EFO_0000289 |
bipolar I disorder | http://www.ebi.ac.uk/efo/EFO_0009963 | http://www.ebi.ac.uk/efo/EFO_0000289 |
depressive disorder | http://purl.obolibrary.org/obo/MONDO_0002050 | http://www.ebi.ac.uk/efo/EFO_0004247 |
melancholia | http://www.ebi.ac.uk/efo/EFO_1002014 | http://purl.obolibrary.org/obo/MONDO_0002050 |
major depressive disorder | http://purl.obolibrary.org/obo/MONDO_0002009 | http://purl.obolibrary.org/obo/MONDO_0002050 |
epilepsy | http://www.ebi.ac.uk/efo/EFO_0000474 | http://www.ebi.ac.uk/efo/EFO_0005774 |
partial epilepsy | http://www.ebi.ac.uk/efo/EFO_0004263 | http://www.ebi.ac.uk/efo/EFO_0000474 |
partial motor epilepsy | http://www.ebi.ac.uk/efo/EFO_1001089 | http://www.ebi.ac.uk/efo/EFO_0004263 |
partial sensory epilepsy | http://www.ebi.ac.uk/efo/EFO_1001090 | http://www.ebi.ac.uk/efo/EFO_0004263 |
familial partial epilepsy | http://purl.obolibrary.org/obo/MONDO_0017704 | http://www.ebi.ac.uk/efo/EFO_0004263 |
familial mesial temporal lobe epilepsy with febrile seizures | http://purl.obolibrary.org/obo/MONDO_0013742 | http://purl.obolibrary.org/obo/MONDO_0017704 |
benign familial mesial temporal lobe epilepsy | http://purl.obolibrary.org/obo/MONDO_0015586 | http://purl.obolibrary.org/obo/MONDO_0017704 |
autosomal dominant nocturnal frontal lobe epilepsy | http://purl.obolibrary.org/obo/MONDO_0020300 | http://purl.obolibrary.org/obo/MONDO_0017704 |
autosomal dominant nocturnal frontal lobe epilepsy 5 | http://purl.obolibrary.org/obo/MONDO_0014002 | http://purl.obolibrary.org/obo/MONDO_0020300 |
familial focal epilepsy with variable foci | http://purl.obolibrary.org/obo/MONDO_0020310 | http://purl.obolibrary.org/obo/MONDO_0017704 |
childhood epilepsy with centrotemporal spikes | http://purl.obolibrary.org/obo/MONDO_0007295 | http://purl.obolibrary.org/obo/MONDO_0017704 |
mesial temporal lobe epilepsy with hippocampal sclerosis | http://purl.obolibrary.org/obo/MONDO_0020476 | http://purl.obolibrary.org/obo/MONDO_0017704 |
sleep-related hypermotor epilepsy | http://purl.obolibrary.org/obo/MONDO_0000030 | http://purl.obolibrary.org/obo/MONDO_0017704 |
generalized epilepsy-paroxysmal dyskinesia syndrome | http://purl.obolibrary.org/obo/MONDO_0012276 | http://purl.obolibrary.org/obo/MONDO_0017704 |
temporal lobe epilepsy | http://www.ebi.ac.uk/efo/EFO_0000773 | http://purl.obolibrary.org/obo/MONDO_0017704 |
familial temporal lobe epilepsy 2 | http://purl.obolibrary.org/obo/MONDO_0011965 | http://www.ebi.ac.uk/efo/EFO_0000773 |
Autosomal dominant epilepsy with auditory features | http://purl.obolibrary.org/obo/MONDO_0010898 | http://www.ebi.ac.uk/efo/EFO_0000773 |
familial temporal lobe epilepsy 7 | http://purl.obolibrary.org/obo/MONDO_0014639 | http://www.ebi.ac.uk/efo/EFO_0000773 |
frontal lobe epilepsy | http://purl.obolibrary.org/obo/MONDO_0002612 | http://www.ebi.ac.uk/efo/EFO_0004263 |
complex partial epilepsy | http://www.ebi.ac.uk/efo/EFO_1000877 | http://www.ebi.ac.uk/efo/EFO_0004263 |
Dravet syndrome | http://www.orpha.net/ORDO/Orphanet_33069 | http://www.ebi.ac.uk/efo/EFO_0000474 |
epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0015650 | http://www.ebi.ac.uk/efo/EFO_0000474 |
neonatal epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0020070 | http://purl.obolibrary.org/obo/MONDO_0015650 |
malignant migrating partial seizures of infancy | http://purl.obolibrary.org/obo/MONDO_0017385 | http://purl.obolibrary.org/obo/MONDO_0020070 |
benign neonatal seizures | http://purl.obolibrary.org/obo/MONDO_0016027 | http://purl.obolibrary.org/obo/MONDO_0020070 |
undetermined early-onset epileptic encephalopathy | http://purl.obolibrary.org/obo/MONDO_0018614 | http://purl.obolibrary.org/obo/MONDO_0020070 |
developmental and epileptic encephalopathy, 29 | http://purl.obolibrary.org/obo/MONDO_0014593 | http://purl.obolibrary.org/obo/MONDO_0018614 |
neonatal-onset developmental and epileptic encephalopathy | http://purl.obolibrary.org/obo/MONDO_0100455 | http://purl.obolibrary.org/obo/MONDO_0020070 |
infantile epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0020071 | http://purl.obolibrary.org/obo/MONDO_0015650 |
benign partial infantile seizures | http://purl.obolibrary.org/obo/MONDO_0015642 | http://purl.obolibrary.org/obo/MONDO_0020071 |
benign infantile seizures associated with mild gastroenteritis | http://purl.obolibrary.org/obo/MONDO_0015640 | http://purl.obolibrary.org/obo/MONDO_0015642 |
benign infantile focal epilepsy with midline spikes and wave during sleep | http://purl.obolibrary.org/obo/MONDO_0015641 | http://purl.obolibrary.org/obo/MONDO_0015642 |
benign non-familial infantile seizures | http://purl.obolibrary.org/obo/MONDO_0015637 | http://purl.obolibrary.org/obo/MONDO_0015642 |
benign partial epilepsy with secondarily generalized seizures in infancy | http://purl.obolibrary.org/obo/MONDO_0015639 | http://purl.obolibrary.org/obo/MONDO_0015637 |
benign partial epilepsy of infancy with complex partial seizures | http://purl.obolibrary.org/obo/MONDO_0015638 | http://purl.obolibrary.org/obo/MONDO_0015637 |
benign familial infantile epilepsy | http://purl.obolibrary.org/obo/MONDO_0017615 | http://purl.obolibrary.org/obo/MONDO_0015642 |
infantile spasms-broad thumbs syndrome | http://purl.obolibrary.org/obo/MONDO_0017852 | http://purl.obolibrary.org/obo/MONDO_0020071 |
myoclonic epilepsy in non-progressive encephalopathies | http://purl.obolibrary.org/obo/MONDO_0019488 | http://purl.obolibrary.org/obo/MONDO_0020071 |
progressive myoclonic epilepsy with dystonia | http://purl.obolibrary.org/obo/MONDO_0018126 | http://purl.obolibrary.org/obo/MONDO_0020071 |
childhood-onset epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0020072 | http://purl.obolibrary.org/obo/MONDO_0015650 |
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | http://purl.obolibrary.org/obo/MONDO_0011970 | http://purl.obolibrary.org/obo/MONDO_0020072 |
cryptogenic late-onset epileptic spasms | http://purl.obolibrary.org/obo/MONDO_0015585 | http://purl.obolibrary.org/obo/MONDO_0020072 |
Jeavons syndrome | http://purl.obolibrary.org/obo/MONDO_0015346 | http://purl.obolibrary.org/obo/MONDO_0020072 |
progressive myoclonus epilepsy | http://purl.obolibrary.org/obo/MONDO_0020074 | http://purl.obolibrary.org/obo/MONDO_0020072 |
familial encephalopathy with neuroserpin inclusion bodies | http://purl.obolibrary.org/obo/MONDO_0011412 | http://purl.obolibrary.org/obo/MONDO_0020074 |
Hereditary myoclonus - progressive distal muscular atrophy | http://www.orpha.net/ORDO/Orphanet_2590 | http://purl.obolibrary.org/obo/MONDO_0020074 |
progressive myoclonic epilepsy type 6 | http://purl.obolibrary.org/obo/MONDO_0013526 | http://purl.obolibrary.org/obo/MONDO_0020074 |
epilepsy, progressive myoclonic, 11 | http://purl.obolibrary.org/obo/MONDO_0030034 | http://purl.obolibrary.org/obo/MONDO_0020074 |
Unverricht-Lundborg disease | http://www.orpha.net/ORDO/Orphanet_308 | http://purl.obolibrary.org/obo/MONDO_0020074 |
action myoclonus-renal failure syndrome | http://purl.obolibrary.org/obo/MONDO_0009699 | http://purl.obolibrary.org/obo/MONDO_0020074 |
early-onset Lafora body disease | http://purl.obolibrary.org/obo/MONDO_0014717 | http://purl.obolibrary.org/obo/MONDO_0020074 |
childhood absence epilepsy | http://purl.obolibrary.org/obo/MONDO_0010826 | http://purl.obolibrary.org/obo/MONDO_0020072 |
benign occipital epilepsy | http://purl.obolibrary.org/obo/MONDO_0007558 | http://purl.obolibrary.org/obo/MONDO_0020072 |
benign childhood occipital epilepsy, Panayiotopoulos type | http://purl.obolibrary.org/obo/MONDO_0020307 | http://purl.obolibrary.org/obo/MONDO_0007558 |
benign childhood occipital epilepsy, Gastaut type | http://purl.obolibrary.org/obo/MONDO_0020308 | http://purl.obolibrary.org/obo/MONDO_0007558 |
adolescent-onset epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0020073 | http://purl.obolibrary.org/obo/MONDO_0015650 |
epileptic encephalopathy, infantile or early childhood | http://purl.obolibrary.org/obo/MONDO_0020627 | http://purl.obolibrary.org/obo/MONDO_0015650 |
epileptic encephalopathy, infantile or early childhood, 1 | http://purl.obolibrary.org/obo/MONDO_0020630 | http://purl.obolibrary.org/obo/MONDO_0020627 |
neonatal/infantile epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0100022 | http://purl.obolibrary.org/obo/MONDO_0015650 |
myoclonic epilepsy of infancy | http://purl.obolibrary.org/obo/MONDO_0019486 | http://purl.obolibrary.org/obo/MONDO_0100022 |
developmental and epileptic encephalopathy | http://purl.obolibrary.org/obo/MONDO_0100062 | http://purl.obolibrary.org/obo/MONDO_0100022 |
developmental and epileptic encephalopathy, 14 | http://purl.obolibrary.org/obo/MONDO_0013989 | http://purl.obolibrary.org/obo/MONDO_0100062 |
microcephaly, seizures, and developmental delay | http://purl.obolibrary.org/obo/MONDO_0013254 | http://purl.obolibrary.org/obo/MONDO_0100062 |
developmental and epileptic encephalopathy, 84 | http://purl.obolibrary.org/obo/MONDO_0032918 | http://purl.obolibrary.org/obo/MONDO_0100062 |
developmental and epileptic encephalopathy, 66 | http://purl.obolibrary.org/obo/MONDO_0054845 | http://purl.obolibrary.org/obo/MONDO_0100062 |
developmental and epileptic encephalopathy, 86 | http://purl.obolibrary.org/obo/MONDO_0030054 | http://purl.obolibrary.org/obo/MONDO_0100062 |
developmental and epileptic encephalopathy, 87 | http://purl.obolibrary.org/obo/MONDO_0030059 | http://purl.obolibrary.org/obo/MONDO_0100062 |
developmental and epileptic encephalopathy, 88 | http://purl.obolibrary.org/obo/MONDO_0030072 | http://purl.obolibrary.org/obo/MONDO_0100062 |
developmental and epileptic encephalopathy, 83 | http://purl.obolibrary.org/obo/MONDO_0032895 | http://purl.obolibrary.org/obo/MONDO_0100062 |
developmental and epileptic encephalopathy, 65 | http://purl.obolibrary.org/obo/MONDO_0033374 | http://purl.obolibrary.org/obo/MONDO_0100062 |
developmental and epileptic encephalopathy 94 | http://www.ebi.ac.uk/efo/EFO_0020000 | http://purl.obolibrary.org/obo/MONDO_0100062 |
adolescent/adult-onset epilepsy syndrome | http://purl.obolibrary.org/obo/MONDO_0100030 | http://purl.obolibrary.org/obo/MONDO_0015650 |
juvenile absence epilepsy | http://purl.obolibrary.org/obo/MONDO_0011876 | http://purl.obolibrary.org/obo/MONDO_0100030 |
epilepsy with generalized tonic-clonic seizures | http://www.ebi.ac.uk/efo/EFO_0007262 | http://purl.obolibrary.org/obo/MONDO_0100030 |
status epilepticus | http://www.ebi.ac.uk/efo/EFO_0008526 | http://www.ebi.ac.uk/efo/EFO_0000474 |
myoclonic epilepsy | http://www.ebi.ac.uk/efo/EFO_1001900 | http://www.ebi.ac.uk/efo/EFO_0000474 |
generalised epilepsy | http://www.ebi.ac.uk/efo/EFO_0005917 | http://www.ebi.ac.uk/efo/EFO_0000474 |
electroclinical syndrome | http://purl.obolibrary.org/obo/MONDO_0000411 | http://www.ebi.ac.uk/efo/EFO_0000474 |
adolescence-adult electroclinical syndrome | http://purl.obolibrary.org/obo/MONDO_0000415 | http://purl.obolibrary.org/obo/MONDO_0000411 |
neonatal period electroclinical syndrome | http://purl.obolibrary.org/obo/MONDO_0000412 | http://purl.obolibrary.org/obo/MONDO_0000411 |
infancy electroclinical syndrome | http://purl.obolibrary.org/obo/MONDO_0000413 | http://purl.obolibrary.org/obo/MONDO_0000411 |
childhood electroclinical syndrome | http://purl.obolibrary.org/obo/MONDO_0000414 | http://purl.obolibrary.org/obo/MONDO_0000411 |
variable age onset epilepsy | http://purl.obolibrary.org/obo/MONDO_0100036 | http://www.ebi.ac.uk/efo/EFO_0000474 |
reflex epilepsy | http://www.ebi.ac.uk/efo/EFO_1001146 | http://purl.obolibrary.org/obo/MONDO_0100036 |
inherited reflex epilepsy | http://purl.obolibrary.org/obo/MONDO_0023224 | http://www.ebi.ac.uk/efo/EFO_1001146 |
photosensitive epilepsy | http://purl.obolibrary.org/obo/MONDO_0015643 | http://purl.obolibrary.org/obo/MONDO_0023224 |
structural epilepsy | http://purl.obolibrary.org/obo/MONDO_0100035 | http://www.ebi.ac.uk/efo/EFO_0000474 |
metabolic epilepsy | http://purl.obolibrary.org/obo/MONDO_0100033 | http://www.ebi.ac.uk/efo/EFO_0000474 |
peroxisomal disease | http://purl.obolibrary.org/obo/MONDO_0019053 | http://purl.obolibrary.org/obo/MONDO_0100033 |
peroxisomal single enzyme/protein defect | http://purl.obolibrary.org/obo/MONDO_0100257 | http://purl.obolibrary.org/obo/MONDO_0019053 |
disorder of glyoxylate metabolism | http://purl.obolibrary.org/obo/MONDO_0017703 | http://purl.obolibrary.org/obo/MONDO_0100257 |
alanine glyoxylate aminotransferase deficiency | http://purl.obolibrary.org/obo/MONDO_0100278 | http://purl.obolibrary.org/obo/MONDO_0017703 |
primary hyperoxaluria type 1 | http://purl.obolibrary.org/obo/MONDO_0009823 | http://purl.obolibrary.org/obo/MONDO_0100278 |
disorder of plasmalogens biosynthesis | http://purl.obolibrary.org/obo/MONDO_0017986 | http://purl.obolibrary.org/obo/MONDO_0100257 |
acyl-CoA binding domain containing protein 5 deficiency | http://purl.obolibrary.org/obo/MONDO_0100112 | http://purl.obolibrary.org/obo/MONDO_0017986 |
fatty acyl-CoA reductase defects | http://purl.obolibrary.org/obo/MONDO_0100275 | http://purl.obolibrary.org/obo/MONDO_0017986 |
alkylglycerone-phosphate synthase deficiency | http://purl.obolibrary.org/obo/MONDO_0100274 | http://purl.obolibrary.org/obo/MONDO_0017986 |
glyceronephosphate O-acyltransferase deficiency | http://purl.obolibrary.org/obo/MONDO_0100273 | http://purl.obolibrary.org/obo/MONDO_0017986 |
disorder of peroxisomal beta oxidation | http://purl.obolibrary.org/obo/MONDO_0019233 | http://purl.obolibrary.org/obo/MONDO_0100257 |
d-bifunctional protein deficiency | http://purl.obolibrary.org/obo/MONDO_0009855 | http://purl.obolibrary.org/obo/MONDO_0019233 |
peroxisomal acyl-CoA oxidase deficiency | http://purl.obolibrary.org/obo/MONDO_0009919 | http://purl.obolibrary.org/obo/MONDO_0019233 |
Alpha-methylacyl-CoA racemase deficiency | http://www.ebi.ac.uk/efo/EFO_1001980 | http://purl.obolibrary.org/obo/MONDO_0019233 |
disorder of peroxisomal alpha oxidation | http://purl.obolibrary.org/obo/MONDO_0100277 | http://purl.obolibrary.org/obo/MONDO_0100257 |
phytanoyl-CoA hydroxylase deficiency | http://purl.obolibrary.org/obo/MONDO_0100258 | http://purl.obolibrary.org/obo/MONDO_0100277 |
disorder of defective peroxisome oxidative status | http://purl.obolibrary.org/obo/MONDO_0100306 | http://purl.obolibrary.org/obo/MONDO_0100257 |
acatalasia | http://www.ebi.ac.uk/efo/EFO_0004144 | http://purl.obolibrary.org/obo/MONDO_0100306 |
disorder of peroxisomal transporter | http://purl.obolibrary.org/obo/MONDO_0100372 | http://purl.obolibrary.org/obo/MONDO_0100257 |
disorder of defective peroxisomal and mitochondrial fission | http://purl.obolibrary.org/obo/MONDO_0100276 | http://purl.obolibrary.org/obo/MONDO_0019053 |
duplication/inversion 15q11 | http://purl.obolibrary.org/obo/MONDO_0018027 | http://www.ebi.ac.uk/efo/EFO_0000474 |
generalized epilepsy with febrile seizures plus | http://purl.obolibrary.org/obo/MONDO_0018214 | http://www.ebi.ac.uk/efo/EFO_0000474 |
infantile epileptic encephalopathy | http://www.ebi.ac.uk/efo/EFO_1000643 | http://www.ebi.ac.uk/efo/EFO_0000474 |
epilepsia partialis continua | http://www.ebi.ac.uk/efo/EFO_1000924 | http://www.ebi.ac.uk/efo/EFO_0000474 |
communicating hydrocephalus | http://purl.obolibrary.org/obo/MONDO_0002045 | http://www.ebi.ac.uk/efo/EFO_0005774 |
normal pressure hydrocephalus | http://www.ebi.ac.uk/efo/EFO_1001065 | http://purl.obolibrary.org/obo/MONDO_0002045 |
akinetic mutism | http://www.ebi.ac.uk/efo/EFO_0007138 | http://www.ebi.ac.uk/efo/EFO_0005774 |
basal ganglia disease | http://www.ebi.ac.uk/efo/EFO_0009533 | http://www.ebi.ac.uk/efo/EFO_0005774 |
parkinsonian disorder | http://purl.obolibrary.org/obo/MONDO_0021095 | http://www.ebi.ac.uk/efo/EFO_0009533 |
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome | http://purl.obolibrary.org/obo/MONDO_0013208 | http://purl.obolibrary.org/obo/MONDO_0021095 |
hemiparkinsonism-hemiatrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0017636 | http://purl.obolibrary.org/obo/MONDO_0021095 |
atypical juvenile parkinsonism | http://purl.obolibrary.org/obo/MONDO_0018321 | http://purl.obolibrary.org/obo/MONDO_0021095 |
Biotin-responsive basal ganglia disease | http://www.orpha.net/ORDO/Orphanet_65284 | http://www.ebi.ac.uk/efo/EFO_0009533 |
encephalomalacia | http://www.ebi.ac.uk/efo/EFO_1000915 | http://www.ebi.ac.uk/efo/EFO_0005774 |
periventricular leukomalacia | http://www.ebi.ac.uk/efo/EFO_1001101 | http://www.ebi.ac.uk/efo/EFO_1000915 |
intracranial hypertension | http://www.ebi.ac.uk/efo/EFO_1000992 | http://www.ebi.ac.uk/efo/EFO_0005774 |
intracranial hypotension | http://www.ebi.ac.uk/efo/EFO_1000993 | http://www.ebi.ac.uk/efo/EFO_0005774 |
brain injury | http://purl.obolibrary.org/obo/MONDO_0043510 | http://www.ebi.ac.uk/efo/EFO_0005774 |
concussion | http://www.ebi.ac.uk/efo/EFO_0011023 | http://purl.obolibrary.org/obo/MONDO_0043510 |
brain edema | http://www.ebi.ac.uk/efo/EFO_1000845 | http://www.ebi.ac.uk/efo/EFO_0005774 |
post-operative stroke | http://www.ebi.ac.uk/efo/EFO_0009956 | http://www.ebi.ac.uk/efo/EFO_0009386 |
post-operative delirium | http://www.ebi.ac.uk/efo/EFO_0009954 | http://www.ebi.ac.uk/efo/EFO_0009386 |
neuroaspergillosis | http://www.ebi.ac.uk/efo/EFO_0007393 | http://www.ebi.ac.uk/efo/EFO_0009386 |
radiation-induced brain injury | http://www.ebi.ac.uk/efo/EFO_0009704 | http://www.ebi.ac.uk/efo/EFO_0009386 |
cerebral toxoplasmosis | http://www.ebi.ac.uk/efo/EFO_0007200 | http://www.ebi.ac.uk/efo/EFO_0009386 |
spinal cord disease | http://www.ebi.ac.uk/efo/EFO_0009488 | http://www.ebi.ac.uk/efo/EFO_0009386 |
anterior horn disorder | http://purl.obolibrary.org/obo/MONDO_0003182 | http://www.ebi.ac.uk/efo/EFO_0009488 |
syringomyelia | http://purl.obolibrary.org/obo/MONDO_0017987 | http://www.ebi.ac.uk/efo/EFO_0009488 |
primary syringomyelia | http://purl.obolibrary.org/obo/MONDO_0020508 | http://purl.obolibrary.org/obo/MONDO_0017987 |
idiopathic syringomyelia | http://purl.obolibrary.org/obo/MONDO_0020510 | http://purl.obolibrary.org/obo/MONDO_0020508 |
familial syringomyelia | http://purl.obolibrary.org/obo/MONDO_0018257 | http://purl.obolibrary.org/obo/MONDO_0020508 |
spinal subdural hematoma | http://www.ebi.ac.uk/efo/EFO_1001847 | http://www.ebi.ac.uk/efo/EFO_0009488 |
tropical spastic paraparesis | http://www.ebi.ac.uk/efo/EFO_0007527 | http://www.ebi.ac.uk/efo/EFO_0009488 |
autonomic nervous system disease | http://www.ebi.ac.uk/efo/EFO_0009532 | http://www.ebi.ac.uk/efo/EFO_0009386 |
sympathetic nervous system disorder | http://purl.obolibrary.org/obo/MONDO_0044993 | http://www.ebi.ac.uk/efo/EFO_0009532 |
parasympathetic nervous system disorder | http://purl.obolibrary.org/obo/MONDO_0044995 | http://www.ebi.ac.uk/efo/EFO_0009532 |
Ondine syndrome | http://www.orpha.net/ORDO/Orphanet_661 | http://www.ebi.ac.uk/efo/EFO_0009532 |
harlequin syndrome | http://purl.obolibrary.org/obo/MONDO_0016040 | http://www.ebi.ac.uk/efo/EFO_0009532 |
Harlequin syndrome | http://www.orpha.net/ORDO/Orphanet_199282 | http://www.ebi.ac.uk/efo/EFO_0009532 |
Frey Syndrome | http://www.ebi.ac.uk/efo/EFO_1000940 | http://www.ebi.ac.uk/efo/EFO_0009532 |
headache disorder | http://www.ebi.ac.uk/efo/EFO_0009550 | http://www.ebi.ac.uk/efo/EFO_0009386 |
hypnic headache | http://purl.obolibrary.org/obo/MONDO_0017181 | http://www.ebi.ac.uk/efo/EFO_0009550 |
Rare genetic headache | http://www.orpha.net/ORDO/Orphanet_183509 | http://www.ebi.ac.uk/efo/EFO_0009550 |
Familial or sporadic hemiplegic migraine | http://www.orpha.net/ORDO/Orphanet_569 | http://www.orpha.net/ORDO/Orphanet_183509 |
Neurodevelopmental disorder | http://www.ebi.ac.uk/efo/EFO_0010642 | http://www.ebi.ac.uk/efo/EFO_0009386 |
palsy | http://www.ebi.ac.uk/efo/EFO_1000631 | http://www.ebi.ac.uk/efo/EFO_0009386 |
Familial recurrent peripheral facial palsy | http://www.orpha.net/ORDO/Orphanet_2809 | http://www.ebi.ac.uk/efo/EFO_1000631 |
paraplegia | http://www.ebi.ac.uk/efo/EFO_0009679 | http://www.ebi.ac.uk/efo/EFO_1000631 |
quadriplegia | http://www.ebi.ac.uk/efo/EFO_0009684 | http://www.ebi.ac.uk/efo/EFO_1000631 |
hemiplegia | http://www.ebi.ac.uk/efo/EFO_0009453 | http://www.ebi.ac.uk/efo/EFO_1000631 |
Alternating hemiplegia | http://www.orpha.net/ORDO/Orphanet_209978 | http://www.ebi.ac.uk/efo/EFO_0009453 |
Alternating hemiplegia of childhood | http://www.orpha.net/ORDO/Orphanet_2131 | http://www.orpha.net/ORDO/Orphanet_209978 |
Benign familial nocturnal alternating hemiplegia of childhood | http://www.orpha.net/ORDO/Orphanet_209973 | http://www.orpha.net/ORDO/Orphanet_209978 |
alternating hemiplegia of childhood | http://purl.obolibrary.org/obo/MONDO_0016241 | http://www.ebi.ac.uk/efo/EFO_0009453 |
CNS demyelinating autoimmune disease | http://www.ebi.ac.uk/efo/EFO_1000870 | http://www.ebi.ac.uk/efo/EFO_0009386 |
peripheral nervous system disease | http://www.ebi.ac.uk/efo/EFO_0009387 | http://www.ebi.ac.uk/efo/EFO_0000618 |
peroneal nerve paralysis | http://www.ebi.ac.uk/efo/EFO_1001102 | http://www.ebi.ac.uk/efo/EFO_0009387 |
complex regional pain syndrome | http://www.ebi.ac.uk/efo/EFO_1001998 | http://www.ebi.ac.uk/efo/EFO_0009387 |
algoneurodystrophy | http://purl.obolibrary.org/obo/MONDO_0001859 | http://www.ebi.ac.uk/efo/EFO_1001998 |
autoimmune disorder of peripheral nervous system | http://purl.obolibrary.org/obo/MONDO_0000590 | http://www.ebi.ac.uk/efo/EFO_0009387 |
radiculopathy | http://purl.obolibrary.org/obo/MONDO_0002959 | http://www.ebi.ac.uk/efo/EFO_0009387 |
distal lower limb amyotrophy | http://www.ebi.ac.uk/efo/EFO_0009912 | http://www.ebi.ac.uk/efo/EFO_0009387 |
pseudorabies | http://www.ebi.ac.uk/efo/EFO_0007457 | http://www.ebi.ac.uk/efo/EFO_0009387 |
cranial nerve palsy | http://www.ebi.ac.uk/efo/EFO_0009489 | http://www.ebi.ac.uk/efo/EFO_0009387 |
disturbance of skin sensation | http://www.ebi.ac.uk/efo/EFO_0009522 | http://www.ebi.ac.uk/efo/EFO_0009387 |
neuroma | http://www.ebi.ac.uk/efo/EFO_0009619 | http://www.ebi.ac.uk/efo/EFO_0009387 |
Morton Neuroma | http://www.ebi.ac.uk/efo/EFO_0010582 | http://www.ebi.ac.uk/efo/EFO_0009619 |
drug-Induced dyskinesia | http://www.ebi.ac.uk/efo/EFO_1000904 | http://www.ebi.ac.uk/efo/EFO_0000618 |
drug-induced akathisia | http://www.ebi.ac.uk/efo/EFO_1000903 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Isaacs syndrome | http://www.ebi.ac.uk/efo/EFO_1000638 | http://www.ebi.ac.uk/efo/EFO_0000618 |
nervous system injury | http://www.ebi.ac.uk/efo/EFO_0009490 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Spinal cord injury | http://www.ebi.ac.uk/efo/EFO_1001919 | http://www.ebi.ac.uk/efo/EFO_0009490 |
peripheral nerve injury | http://www.ebi.ac.uk/efo/EFO_0009510 | http://www.ebi.ac.uk/efo/EFO_0009490 |
neurovascular disorder | http://purl.obolibrary.org/obo/MONDO_0043218 | http://www.ebi.ac.uk/efo/EFO_0000618 |
genetic central nervous system and retinal vascular disease | http://purl.obolibrary.org/obo/MONDO_0015953 | http://purl.obolibrary.org/obo/MONDO_0043218 |
Sneddon syndrome | http://www.ebi.ac.uk/efo/EFO_1001186 | http://purl.obolibrary.org/obo/MONDO_0015953 |
multisystemic smooth muscle dysfunction syndrome | http://purl.obolibrary.org/obo/MONDO_0013452 | http://purl.obolibrary.org/obo/MONDO_0015953 |
primary central nervous system vasculitis | http://purl.obolibrary.org/obo/MONDO_0015374 | http://purl.obolibrary.org/obo/MONDO_0015953 |
familial cervical artery dissection | http://purl.obolibrary.org/obo/MONDO_0018212 | http://purl.obolibrary.org/obo/MONDO_0015953 |
catalepsy | http://www.ebi.ac.uk/efo/EFO_0009845 | http://www.ebi.ac.uk/efo/EFO_0000618 |
radiculitis | http://purl.obolibrary.org/obo/MONDO_0021765 | http://www.ebi.ac.uk/efo/EFO_0000618 |
neurodevelopmental disorder | http://purl.obolibrary.org/obo/MONDO_0700092 | http://www.ebi.ac.uk/efo/EFO_0000618 |
neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | http://purl.obolibrary.org/obo/MONDO_0060490 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with involuntary movements | http://purl.obolibrary.org/obo/MONDO_0060491 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with microcephaly, ataxia, and seizures | http://purl.obolibrary.org/obo/MONDO_0060577 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | http://purl.obolibrary.org/obo/MONDO_0060578 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | http://purl.obolibrary.org/obo/MONDO_0060596 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | http://purl.obolibrary.org/obo/MONDO_0060664 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with severe motor impairment and absent language | http://purl.obolibrary.org/obo/MONDO_0060622 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | http://purl.obolibrary.org/obo/MONDO_0060624 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | http://www.ebi.ac.uk/efo/EFO_0009644 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | http://www.ebi.ac.uk/efo/EFO_0009645 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia | http://purl.obolibrary.org/obo/MONDO_0033562 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | http://purl.obolibrary.org/obo/MONDO_0100348 | http://purl.obolibrary.org/obo/MONDO_0700092 |
complex neurodevelopmental disorder | http://purl.obolibrary.org/obo/MONDO_0100038 | http://purl.obolibrary.org/obo/MONDO_0700092 |
X-linked complex neurodevelopmental disorder | http://purl.obolibrary.org/obo/MONDO_0100148 | http://purl.obolibrary.org/obo/MONDO_0100038 |
neurodevelopmental disorder with hypotonia, seizures, and absent language | http://purl.obolibrary.org/obo/MONDO_0014995 | http://purl.obolibrary.org/obo/MONDO_0700092 |
Okur-Chung neurodevelopmental syndrome | http://purl.obolibrary.org/obo/MONDO_0014893 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with cerebellar atrophy and with or without seizures | http://purl.obolibrary.org/obo/MONDO_0020841 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | http://purl.obolibrary.org/obo/MONDO_0032894 | http://purl.obolibrary.org/obo/MONDO_0700092 |
Poirier-Bienvenu neurodevelopmental syndrome | http://purl.obolibrary.org/obo/MONDO_0032889 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity | http://purl.obolibrary.org/obo/MONDO_0032887 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies | http://purl.obolibrary.org/obo/MONDO_0032888 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with language impairment and behavioral abnormalities | http://purl.obolibrary.org/obo/MONDO_0030060 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | http://purl.obolibrary.org/obo/MONDO_0030063 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | http://purl.obolibrary.org/obo/MONDO_0032755 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | http://purl.obolibrary.org/obo/MONDO_0032790 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with central and peripheral motor dysfunction | http://purl.obolibrary.org/obo/MONDO_0032698 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures | http://purl.obolibrary.org/obo/MONDO_0030037 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder and language delay with or without structural brain abnormalities | http://purl.obolibrary.org/obo/MONDO_0032697 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | http://purl.obolibrary.org/obo/MONDO_0030024 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with hypotonia, microcephaly, and seizures | http://purl.obolibrary.org/obo/MONDO_0030025 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | http://purl.obolibrary.org/obo/MONDO_0030046 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | http://purl.obolibrary.org/obo/MONDO_0030866 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | http://purl.obolibrary.org/obo/MONDO_0032900 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | http://purl.obolibrary.org/obo/MONDO_0032921 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with microcephaly and dysmorphic facies | http://purl.obolibrary.org/obo/MONDO_0032942 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | http://purl.obolibrary.org/obo/MONDO_0032943 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | http://purl.obolibrary.org/obo/MONDO_0060704 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with spasticity and poor growth | http://purl.obolibrary.org/obo/MONDO_0060752 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | http://purl.obolibrary.org/obo/MONDO_0060761 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | http://purl.obolibrary.org/obo/MONDO_0060642 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with or without seizures and gait abnormalities | http://purl.obolibrary.org/obo/MONDO_0060641 | http://purl.obolibrary.org/obo/MONDO_0700092 |
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | http://purl.obolibrary.org/obo/MONDO_0060640 | http://purl.obolibrary.org/obo/MONDO_0700092 |
KIF1A related neurological disorder | http://purl.obolibrary.org/obo/MONDO_0700055 | http://www.ebi.ac.uk/efo/EFO_0000618 |
neurological pain disorder | http://purl.obolibrary.org/obo/MONDO_0700057 | http://www.ebi.ac.uk/efo/EFO_0000618 |
chronic pain syndrome | http://purl.obolibrary.org/obo/MONDO_0024317 | http://purl.obolibrary.org/obo/MONDO_0700057 |
Gerstmann syndrome | http://www.ebi.ac.uk/efo/EFO_0007285 | http://www.ebi.ac.uk/efo/EFO_0000618 |
inherited nervous system cancer-predisposing syndrome | http://purl.obolibrary.org/obo/MONDO_0016756 | http://www.ebi.ac.uk/efo/EFO_0000618 |
neurofibromatosis | http://www.ebi.ac.uk/efo/EFO_0008514 | http://purl.obolibrary.org/obo/MONDO_0016756 |
mismatch repair cancer syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0010159 | http://purl.obolibrary.org/obo/MONDO_0016756 |
Li-Fraumeni syndrome | http://purl.obolibrary.org/obo/MONDO_0018875 | http://purl.obolibrary.org/obo/MONDO_0016756 |
Li-Fraumeni syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0007903 | http://purl.obolibrary.org/obo/MONDO_0018875 |
diplegia of upper limb | http://purl.obolibrary.org/obo/MONDO_0004618 | http://www.ebi.ac.uk/efo/EFO_0000618 |
atactic disorder | http://purl.obolibrary.org/obo/MONDO_0100308 | http://www.ebi.ac.uk/efo/EFO_0000618 |
acquired ataxia | http://purl.obolibrary.org/obo/MONDO_0016593 | http://purl.obolibrary.org/obo/MONDO_0100308 |
multiple sclerosis variant | http://purl.obolibrary.org/obo/MONDO_0016428 | http://www.ebi.ac.uk/efo/EFO_0000618 |
specific language disorder | http://purl.obolibrary.org/obo/MONDO_0016226 | http://www.ebi.ac.uk/efo/EFO_0000618 |
childhood apraxia of speech | http://purl.obolibrary.org/obo/MONDO_0011184 | http://purl.obolibrary.org/obo/MONDO_0016226 |
autoimmune disorder of the nervous system | http://purl.obolibrary.org/obo/MONDO_0002977 | http://www.ebi.ac.uk/efo/EFO_0000618 |
sensory system disease | http://www.ebi.ac.uk/efo/EFO_0001058 | http://www.ebi.ac.uk/efo/EFO_0000618 |
auditory system disease | http://www.ebi.ac.uk/efo/EFO_1001455 | http://www.ebi.ac.uk/efo/EFO_0001058 |
inherited auditory system disease | http://purl.obolibrary.org/obo/MONDO_0037940 | http://www.ebi.ac.uk/efo/EFO_1001455 |
Rare genetic deafness | http://www.orpha.net/ORDO/Orphanet_96210 | http://purl.obolibrary.org/obo/MONDO_0037940 |
Syndromic genetic deafness | http://www.orpha.net/ORDO/Orphanet_90642 | http://www.orpha.net/ORDO/Orphanet_96210 |
Branchiogenic deafness syndrome | http://www.orpha.net/ORDO/Orphanet_50815 | http://www.orpha.net/ORDO/Orphanet_90642 |
Gingival fibromatosis - progressive deafness | http://www.orpha.net/ORDO/Orphanet_2027 | http://www.orpha.net/ORDO/Orphanet_90642 |
Cleft lip/palate - deafness - sacral lipoma | http://www.orpha.net/ORDO/Orphanet_2003 | http://www.orpha.net/ORDO/Orphanet_90642 |
Hirschsprung disease - deafness - polydactyly | http://www.orpha.net/ORDO/Orphanet_2155 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deafness-infertility syndrome | http://www.orpha.net/ORDO/Orphanet_94064 | http://www.orpha.net/ORDO/Orphanet_90642 |
Metaphyseal dysostosis - intellectual disability - conductive deafness | http://www.orpha.net/ORDO/Orphanet_2502 | http://www.orpha.net/ORDO/Orphanet_90642 |
Thickened earlobes - conductive deafness | http://www.orpha.net/ORDO/Orphanet_2405 | http://www.orpha.net/ORDO/Orphanet_90642 |
Microcephaly - deafness - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2533 | http://www.orpha.net/ORDO/Orphanet_90642 |
Mitochondrial myopathy - lactic acidosis - deafness | http://www.orpha.net/ORDO/Orphanet_2597 | http://www.orpha.net/ORDO/Orphanet_90642 |
Myoclonus - cerebellar ataxia - deafness | http://www.orpha.net/ORDO/Orphanet_2589 | http://www.orpha.net/ORDO/Orphanet_90642 |
Palmoplantar keratoderma-deafness syndrome | http://www.orpha.net/ORDO/Orphanet_2202 | http://www.orpha.net/ORDO/Orphanet_90642 |
Stapes ankylosis with broad thumbs and toes | http://www.orpha.net/ORDO/Orphanet_140917 | http://www.orpha.net/ORDO/Orphanet_90642 |
Bilateral microtia - deafness - cleft palate | http://www.orpha.net/ORDO/Orphanet_140963 | http://www.orpha.net/ORDO/Orphanet_90642 |
Branchio-otic syndrome | http://www.orpha.net/ORDO/Orphanet_52429 | http://www.orpha.net/ORDO/Orphanet_90642 |
Connective tissue disorder due to lysyl hydroxylase-3 deficiency | http://www.orpha.net/ORDO/Orphanet_300284 | http://www.orpha.net/ORDO/Orphanet_90642 |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness | http://www.orpha.net/ORDO/Orphanet_280406 | http://www.orpha.net/ORDO/Orphanet_90642 |
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_228012 | http://www.orpha.net/ORDO/Orphanet_90642 |
Stickler syndrome type 3 | http://www.orpha.net/ORDO/Orphanet_166100 | http://www.orpha.net/ORDO/Orphanet_90642 |
Albinism-deafness syndrome | http://www.orpha.net/ORDO/Orphanet_998 | http://www.orpha.net/ORDO/Orphanet_90642 |
Ermine phenotype | http://www.orpha.net/ORDO/Orphanet_999 | http://www.orpha.net/ORDO/Orphanet_90642 |
Neurofibromatosis type 2 | http://www.orpha.net/ORDO/Orphanet_637 | http://www.orpha.net/ORDO/Orphanet_90642 |
Autosomal recessive distal renal tubular acidosis | http://www.orpha.net/ORDO/Orphanet_402041 | http://www.orpha.net/ORDO/Orphanet_90642 |
Orofaciodigital syndrome type 3 | http://www.orpha.net/ORDO/Orphanet_2752 | http://www.orpha.net/ORDO/Orphanet_90642 |
Orofaciodigital syndrome type 4 | http://www.orpha.net/ORDO/Orphanet_2753 | http://www.orpha.net/ORDO/Orphanet_90642 |
Orofaciodigital syndrome type 8 | http://www.orpha.net/ORDO/Orphanet_2755 | http://www.orpha.net/ORDO/Orphanet_90642 |
Orofaciodigital syndrome type 2 | http://www.orpha.net/ORDO/Orphanet_2751 | http://www.orpha.net/ORDO/Orphanet_90642 |
Olivopontocerebellar atrophy - deafness | http://www.orpha.net/ORDO/Orphanet_2732 | http://www.orpha.net/ORDO/Orphanet_90642 |
Nephropathy-deafness-hyperparathyroidism syndrome | http://www.orpha.net/ORDO/Orphanet_2668 | http://www.orpha.net/ORDO/Orphanet_90642 |
Nephrosis - deafness - urinary tract - digital malformations | http://www.orpha.net/ORDO/Orphanet_2669 | http://www.orpha.net/ORDO/Orphanet_90642 |
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | http://www.orpha.net/ORDO/Orphanet_2698 | http://www.orpha.net/ORDO/Orphanet_90642 |
Neutropenia - monocytopenia - deafness | http://www.orpha.net/ORDO/Orphanet_2690 | http://www.orpha.net/ORDO/Orphanet_90642 |
Keratoderma hereditarium mutilans | http://www.orpha.net/ORDO/Orphanet_494 | http://www.orpha.net/ORDO/Orphanet_90642 |
Spastic paraparesis - deafness | http://www.orpha.net/ORDO/Orphanet_2815 | http://www.orpha.net/ORDO/Orphanet_90642 |
Phocomelia - ectrodactyly - deafness - sinus arrhythmia | http://www.orpha.net/ORDO/Orphanet_2878 | http://www.orpha.net/ORDO/Orphanet_90642 |
Short stature - deafness - neutrophil dysfunction - dysmorphism | http://www.orpha.net/ORDO/Orphanet_2866 | http://www.orpha.net/ORDO/Orphanet_90642 |
BOR syndrome | http://www.orpha.net/ORDO/Orphanet_107 | http://www.orpha.net/ORDO/Orphanet_90642 |
MEGDEL syndrome | http://www.orpha.net/ORDO/Orphanet_352328 | http://www.orpha.net/ORDO/Orphanet_90642 |
Central nervous system calcification - deafness - tubular acidosis - anemia | http://www.orpha.net/ORDO/Orphanet_3240 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deafness-craniofacial syndrome | http://www.orpha.net/ORDO/Orphanet_3241 | http://www.orpha.net/ORDO/Orphanet_90642 |
Multiple synostoses syndrome | http://www.orpha.net/ORDO/Orphanet_3237 | http://www.orpha.net/ORDO/Orphanet_90642 |
Cardiospondylocarpofacial syndrome | http://www.orpha.net/ORDO/Orphanet_3238 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deafness - vitiligo - achalasia | http://www.orpha.net/ORDO/Orphanet_3239 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deafness - oligodontia | http://www.orpha.net/ORDO/Orphanet_3230 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deafness-onychodystrophy syndrome | http://www.orpha.net/ORDO/Orphanet_3231 | http://www.orpha.net/ORDO/Orphanet_90642 |
Autosomal dominant deafness-onychodystrophy syndrome | http://www.orpha.net/ORDO/Orphanet_79499 | http://www.orpha.net/ORDO/Orphanet_3231 |
Deafness - ear malformation - facial palsy | http://www.orpha.net/ORDO/Orphanet_3232 | http://www.orpha.net/ORDO/Orphanet_90642 |
Athabaskan brainstem dysgenesis syndrome | http://www.orpha.net/ORDO/Orphanet_69739 | http://www.orpha.net/ORDO/Orphanet_90642 |
Ectodermal dysplasia - sensorineural deafness | http://www.orpha.net/ORDO/Orphanet_1883 | http://www.orpha.net/ORDO/Orphanet_90642 |
Craniofacial-deafness-hand syndrome | http://www.orpha.net/ORDO/Orphanet_1529 | http://www.orpha.net/ORDO/Orphanet_90642 |
Hypotrichosis-deafness syndrome | http://www.orpha.net/ORDO/Orphanet_330029 | http://www.orpha.net/ORDO/Orphanet_90642 |
Cataract - ataxia - deafness | http://www.orpha.net/ORDO/Orphanet_1368 | http://www.orpha.net/ORDO/Orphanet_90642 |
Cataract - deafness - hypogonadism | http://www.orpha.net/ORDO/Orphanet_1383 | http://www.orpha.net/ORDO/Orphanet_90642 |
Dysmorphism - conductive hearing loss - heart defect | http://www.orpha.net/ORDO/Orphanet_289553 | http://www.orpha.net/ORDO/Orphanet_90642 |
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome | http://www.orpha.net/ORDO/Orphanet_300333 | http://www.orpha.net/ORDO/Orphanet_90642 |
Sinoatrial node dysfunction and deafness | http://www.orpha.net/ORDO/Orphanet_324321 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deafness with labyrinthine aplasia, microtia, and microdontia | http://www.orpha.net/ORDO/Orphanet_90024 | http://www.orpha.net/ORDO/Orphanet_90642 |
Congenital disorder of glycosylation with deafness as a major feature | http://www.orpha.net/ORDO/Orphanet_371212 | http://www.orpha.net/ORDO/Orphanet_90642 |
Temtamy preaxial brachydactyly syndrome | http://www.orpha.net/ORDO/Orphanet_363417 | http://www.orpha.net/ORDO/Orphanet_371212 |
Riboflavin transporter deficiency | http://www.orpha.net/ORDO/Orphanet_97229 | http://www.orpha.net/ORDO/Orphanet_90642 |
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome | http://www.orpha.net/ORDO/Orphanet_293958 | http://www.orpha.net/ORDO/Orphanet_90642 |
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | http://www.orpha.net/ORDO/Orphanet_329336 | http://www.orpha.net/ORDO/Orphanet_90642 |
Split hand - split foot - deafness | http://www.orpha.net/ORDO/Orphanet_71271 | http://www.orpha.net/ORDO/Orphanet_90642 |
Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability | http://www.orpha.net/ORDO/Orphanet_71267 | http://www.orpha.net/ORDO/Orphanet_90642 |
Spondyloepiphyseal dysplasia, MacDermot type | http://www.orpha.net/ORDO/Orphanet_163668 | http://www.orpha.net/ORDO/Orphanet_90642 |
Maxillonasal dysplasia | http://www.orpha.net/ORDO/Orphanet_1248 | http://www.orpha.net/ORDO/Orphanet_90642 |
Choanal atresia-deafness-cardiac defects-dysmorphism syndrome | http://www.orpha.net/ORDO/Orphanet_1200 | http://www.orpha.net/ORDO/Orphanet_90642 |
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy | http://www.orpha.net/ORDO/Orphanet_1192 | http://www.orpha.net/ORDO/Orphanet_90642 |
Caudal appendage - deafness | http://www.orpha.net/ORDO/Orphanet_1123 | http://www.orpha.net/ORDO/Orphanet_90642 |
Arthrogryposis-like hand anomaly - sensorineural deafness | http://www.orpha.net/ORDO/Orphanet_1144 | http://www.orpha.net/ORDO/Orphanet_90642 |
Fountain syndrome | http://www.orpha.net/ORDO/Orphanet_3219 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deafness - epiphyseal dysplasia - short stature | http://www.orpha.net/ORDO/Orphanet_3218 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deafness - small bowel diverticulosis - neuropathy | http://www.orpha.net/ORDO/Orphanet_3217 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deaf blind hypopigmentation syndrome, Yemenite type | http://www.orpha.net/ORDO/Orphanet_3214 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deafness - genital anomalies - metacarpal and metatarsal synostosis | http://www.orpha.net/ORDO/Orphanet_3224 | http://www.orpha.net/ORDO/Orphanet_90642 |
Deafness - lymphedema - leukemia | http://www.orpha.net/ORDO/Orphanet_3226 | http://www.orpha.net/ORDO/Orphanet_90642 |
Hearing loss - familial salivary gland insensitivity to aldosterone | http://www.orpha.net/ORDO/Orphanet_3225 | http://www.orpha.net/ORDO/Orphanet_90642 |
Progressive deafness with stapes fixation | http://www.orpha.net/ORDO/Orphanet_3235 | http://www.orpha.net/ORDO/Orphanet_90642 |
Non-syndromic genetic deafness | http://www.orpha.net/ORDO/Orphanet_87884 | http://www.orpha.net/ORDO/Orphanet_96210 |
Prelingual non-syndromic genetic deafness | http://www.orpha.net/ORDO/Orphanet_216445 | http://www.orpha.net/ORDO/Orphanet_87884 |
X-linked mixed deafness with perilymphatic gusher | http://www.orpha.net/ORDO/Orphanet_383 | http://www.orpha.net/ORDO/Orphanet_216445 |
Mitochondrial non-syndromic sensorineural deafness | http://www.orpha.net/ORDO/Orphanet_90641 | http://www.orpha.net/ORDO/Orphanet_216445 |
Postlingual non-syndromic genetic deafness | http://www.orpha.net/ORDO/Orphanet_216452 | http://www.orpha.net/ORDO/Orphanet_87884 |
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure | http://www.orpha.net/ORDO/Orphanet_168609 | http://www.orpha.net/ORDO/Orphanet_216452 |
noise-induced hearing loss | http://www.ebi.ac.uk/efo/EFO_1001254 | http://purl.obolibrary.org/obo/MONDO_0037940 |
nonsyndromic genetic hearing loss | http://purl.obolibrary.org/obo/MONDO_0019497 | http://purl.obolibrary.org/obo/MONDO_0037940 |
prelingual non-syndromic genetic hearing loss | http://purl.obolibrary.org/obo/MONDO_0016297 | http://purl.obolibrary.org/obo/MONDO_0019497 |
X-linked nonsyndromic hearing loss | http://purl.obolibrary.org/obo/MONDO_0019586 | http://purl.obolibrary.org/obo/MONDO_0016297 |
autosomal dominant nonsyndromic hearing loss | http://purl.obolibrary.org/obo/MONDO_0019587 | http://purl.obolibrary.org/obo/MONDO_0016297 |
autosomal dominant nonsyndromic hearing loss 7 | http://purl.obolibrary.org/obo/MONDO_0011074 | http://purl.obolibrary.org/obo/MONDO_0019587 |
hearing loss, autosomal dominant 76 | http://purl.obolibrary.org/obo/MONDO_0032917 | http://purl.obolibrary.org/obo/MONDO_0019587 |
hearing loss, autosomal dominant 75 | http://purl.obolibrary.org/obo/MONDO_0032911 | http://purl.obolibrary.org/obo/MONDO_0019587 |
autosomal dominant nonsyndromic hearing loss 2A | http://purl.obolibrary.org/obo/MONDO_0010817 | http://purl.obolibrary.org/obo/MONDO_0019587 |
autosomal dominant nonsyndromic hearing loss 1 | http://purl.obolibrary.org/obo/MONDO_0007424 | http://purl.obolibrary.org/obo/MONDO_0019587 |
hearing loss, autosomal dominant 77 | http://purl.obolibrary.org/obo/MONDO_0030058 | http://purl.obolibrary.org/obo/MONDO_0019587 |
hearing loss, autosomal dominant 74 | http://purl.obolibrary.org/obo/MONDO_0029137 | http://purl.obolibrary.org/obo/MONDO_0019587 |
autosomal dominant nonsyndromic hearing loss 65 | http://purl.obolibrary.org/obo/MONDO_0014470 | http://purl.obolibrary.org/obo/MONDO_0019587 |
autosomal dominant nonsyndromic hearing loss 40 | http://purl.obolibrary.org/obo/MONDO_0014603 | http://purl.obolibrary.org/obo/MONDO_0019587 |
autosomal dominant nonsyndromic hearing loss 70 | http://purl.obolibrary.org/obo/MONDO_0014853 | http://purl.obolibrary.org/obo/MONDO_0019587 |
hearing loss, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0019588 | http://purl.obolibrary.org/obo/MONDO_0016297 |
hearing loss, autosomal recessive 57 | http://purl.obolibrary.org/obo/MONDO_0033201 | http://purl.obolibrary.org/obo/MONDO_0019588 |
hearing loss, autosomal recessive 110 | http://purl.obolibrary.org/obo/MONDO_0054860 | http://purl.obolibrary.org/obo/MONDO_0019588 |
autosomal recessive nonsyndromic hearing loss 9 | http://purl.obolibrary.org/obo/MONDO_0010986 | http://purl.obolibrary.org/obo/MONDO_0019588 |
autosomal recessive nonsyndromic hearing loss 7 | http://purl.obolibrary.org/obo/MONDO_0010967 | http://purl.obolibrary.org/obo/MONDO_0019588 |
autosomal recessive nonsyndromic hearing loss 4 | http://purl.obolibrary.org/obo/MONDO_0010933 | http://purl.obolibrary.org/obo/MONDO_0019588 |
autosomal recessive nonsyndromic hearing loss 63 | http://purl.obolibrary.org/obo/MONDO_0012670 | http://purl.obolibrary.org/obo/MONDO_0019588 |
autosomal recessive nonsyndromic hearing loss 102 | http://purl.obolibrary.org/obo/MONDO_0014428 | http://purl.obolibrary.org/obo/MONDO_0019588 |
postlingual non-syndromic genetic hearing loss | http://purl.obolibrary.org/obo/MONDO_0016298 | http://purl.obolibrary.org/obo/MONDO_0019497 |
X-linked deafness | http://purl.obolibrary.org/obo/MONDO_0020768 | http://purl.obolibrary.org/obo/MONDO_0037940 |
auditory neuropathy | http://purl.obolibrary.org/obo/MONDO_0021944 | http://purl.obolibrary.org/obo/MONDO_0037940 |
myringosclerosis | http://www.ebi.ac.uk/efo/EFO_1001812 | http://www.ebi.ac.uk/efo/EFO_1001455 |
discharging ear | http://purl.obolibrary.org/obo/MONDO_0000988 | http://www.ebi.ac.uk/efo/EFO_1001455 |
retrocochlear disease | http://purl.obolibrary.org/obo/MONDO_0002453 | http://www.ebi.ac.uk/efo/EFO_1001455 |
hearing disorder | http://purl.obolibrary.org/obo/MONDO_0021945 | http://www.ebi.ac.uk/efo/EFO_1001455 |
hearing loss | http://www.ebi.ac.uk/efo/EFO_0004238 | http://purl.obolibrary.org/obo/MONDO_0021945 |
sensorineural hearing loss | http://www.ebi.ac.uk/efo/EFO_1001176 | http://www.ebi.ac.uk/efo/EFO_0004238 |
age-related hearing impairment | http://www.ebi.ac.uk/efo/EFO_0005782 | http://www.ebi.ac.uk/efo/EFO_1001176 |
hearing loss, mixed conductive-sensorineural | http://purl.obolibrary.org/obo/MONDO_0044001 | http://www.ebi.ac.uk/efo/EFO_0004238 |
deafness | http://www.ebi.ac.uk/efo/EFO_0001063 | http://www.ebi.ac.uk/efo/EFO_0004238 |
nonsyndromic deafness | http://www.ebi.ac.uk/efo/EFO_0009076 | http://www.ebi.ac.uk/efo/EFO_0001063 |
presbycusis | http://purl.obolibrary.org/obo/MONDO_0043765 | http://www.ebi.ac.uk/efo/EFO_0004238 |
congenital nervous system disorder | http://purl.obolibrary.org/obo/MONDO_0002320 | http://www.ebi.ac.uk/efo/EFO_0000618 |
nemaline myopathy 5 | http://purl.obolibrary.org/obo/MONDO_0011539 | http://purl.obolibrary.org/obo/MONDO_0002320 |
microcephaly | http://purl.obolibrary.org/obo/MONDO_0001149 | http://purl.obolibrary.org/obo/MONDO_0002320 |
microcephalic osteodysplastic primordial dwarfism | http://purl.obolibrary.org/obo/MONDO_0000060 | http://purl.obolibrary.org/obo/MONDO_0001149 |
meningocele | http://purl.obolibrary.org/obo/MONDO_0001147 | http://purl.obolibrary.org/obo/MONDO_0002320 |
severe congenital nemaline myopathy | http://purl.obolibrary.org/obo/MONDO_0015735 | http://purl.obolibrary.org/obo/MONDO_0002320 |
nemaline myopathy 9 | http://purl.obolibrary.org/obo/MONDO_0014326 | http://purl.obolibrary.org/obo/MONDO_0015735 |
nemaline myopathy 8 | http://purl.obolibrary.org/obo/MONDO_0014138 | http://purl.obolibrary.org/obo/MONDO_0015735 |
intermediate nemaline myopathy | http://purl.obolibrary.org/obo/MONDO_0015736 | http://purl.obolibrary.org/obo/MONDO_0002320 |
typical nemaline myopathy | http://purl.obolibrary.org/obo/MONDO_0015737 | http://purl.obolibrary.org/obo/MONDO_0002320 |
nemaline myopathy 7 | http://purl.obolibrary.org/obo/MONDO_0012538 | http://purl.obolibrary.org/obo/MONDO_0015737 |
cerebral cavernous malformation | http://purl.obolibrary.org/obo/MONDO_0000820 | http://purl.obolibrary.org/obo/MONDO_0002320 |
anencephaly | http://purl.obolibrary.org/obo/MONDO_0000819 | http://purl.obolibrary.org/obo/MONDO_0002320 |
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan | http://purl.obolibrary.org/obo/MONDO_0016155 | http://purl.obolibrary.org/obo/MONDO_0002320 |
qualitative or quantitative defects of protein glycosyltransferase-like | http://purl.obolibrary.org/obo/MONDO_0016183 | http://purl.obolibrary.org/obo/MONDO_0016155 |
qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase | http://purl.obolibrary.org/obo/MONDO_0016182 | http://purl.obolibrary.org/obo/MONDO_0016155 |
myopathy caused by variation in POMGNT1 | http://purl.obolibrary.org/obo/MONDO_0700068 | http://purl.obolibrary.org/obo/MONDO_0016182 |
qualitative or quantitative defects of protein O-mannosyltransferase 2 | http://purl.obolibrary.org/obo/MONDO_0016185 | http://purl.obolibrary.org/obo/MONDO_0016155 |
qualitative or quantitative defects of protein O-mannosyltransferase 1 | http://purl.obolibrary.org/obo/MONDO_0016184 | http://purl.obolibrary.org/obo/MONDO_0016155 |
qualitative or quantitative defects of fukutin | http://purl.obolibrary.org/obo/MONDO_0016157 | http://purl.obolibrary.org/obo/MONDO_0016155 |
myopathy caused by variation in FKRP | http://purl.obolibrary.org/obo/MONDO_0700066 | http://purl.obolibrary.org/obo/MONDO_0016157 |
qualitative or quantitative defects of FKRP | http://purl.obolibrary.org/obo/MONDO_0016156 | http://purl.obolibrary.org/obo/MONDO_0016155 |
myopathy caused by variation in FKTN | http://purl.obolibrary.org/obo/MONDO_0700067 | http://purl.obolibrary.org/obo/MONDO_0016155 |
myopathy caused by variation in POMGNT2 | http://purl.obolibrary.org/obo/MONDO_0700069 | http://purl.obolibrary.org/obo/MONDO_0016155 |
myopathy caused by variation in POMT1 | http://purl.obolibrary.org/obo/MONDO_0700070 | http://purl.obolibrary.org/obo/MONDO_0016155 |
myopathy caused by variation in POMT2 | http://purl.obolibrary.org/obo/MONDO_0700071 | http://purl.obolibrary.org/obo/MONDO_0016155 |
myopathy caused by variation in GMPPB | http://purl.obolibrary.org/obo/MONDO_0700084 | http://purl.obolibrary.org/obo/MONDO_0016155 |
alpha-actinopathy | http://purl.obolibrary.org/obo/MONDO_0100084 | http://purl.obolibrary.org/obo/MONDO_0002320 |
cap myopathy | http://purl.obolibrary.org/obo/MONDO_0015753 | http://purl.obolibrary.org/obo/MONDO_0100084 |
zebra body myopathy | http://purl.obolibrary.org/obo/MONDO_0019949 | http://purl.obolibrary.org/obo/MONDO_0100084 |
congenital myopathy with excess of thin filaments | http://purl.obolibrary.org/obo/MONDO_0020342 | http://purl.obolibrary.org/obo/MONDO_0100084 |
hyaline body myopathy | http://purl.obolibrary.org/obo/MONDO_0018889 | http://purl.obolibrary.org/obo/MONDO_0002320 |
TTN-related myopathy | http://purl.obolibrary.org/obo/MONDO_0100175 | http://purl.obolibrary.org/obo/MONDO_0002320 |
autosomal recessive centronuclear myopathy | http://purl.obolibrary.org/obo/MONDO_0015705 | http://purl.obolibrary.org/obo/MONDO_0100175 |
myopathy, centronuclear, 2 | http://purl.obolibrary.org/obo/MONDO_0009709 | http://purl.obolibrary.org/obo/MONDO_0015705 |
myopathy, centronuclear, 5 | http://purl.obolibrary.org/obo/MONDO_0014418 | http://purl.obolibrary.org/obo/MONDO_0015705 |
classic multiminicore myopathy | http://purl.obolibrary.org/obo/MONDO_0017939 | http://purl.obolibrary.org/obo/MONDO_0100175 |
TPM2-related myopathy | http://purl.obolibrary.org/obo/MONDO_0100196 | http://purl.obolibrary.org/obo/MONDO_0002320 |
central core myopathy | http://www.ebi.ac.uk/efo/EFO_1000855 | http://purl.obolibrary.org/obo/MONDO_0100196 |
multiminicore myopathy | http://purl.obolibrary.org/obo/MONDO_0018948 | http://purl.obolibrary.org/obo/MONDO_0002320 |
moderate multiminicore disease with hand involvement | http://purl.obolibrary.org/obo/MONDO_0015793 | http://purl.obolibrary.org/obo/MONDO_0018948 |
antenatal multiminicore disease with arthrogryposis multiplex congenita | http://purl.obolibrary.org/obo/MONDO_0015794 | http://purl.obolibrary.org/obo/MONDO_0018948 |
congenital multicore myopathy with external ophthalmoplegia | http://purl.obolibrary.org/obo/MONDO_0009712 | http://purl.obolibrary.org/obo/MONDO_0018948 |
TPM3-related myopathy | http://purl.obolibrary.org/obo/MONDO_0100108 | http://purl.obolibrary.org/obo/MONDO_0002320 |
tubulinopathy | http://www.ebi.ac.uk/efo/EFO_0020030 | http://purl.obolibrary.org/obo/MONDO_0002320 |
developmental disability | http://www.ebi.ac.uk/efo/EFO_0003852 | http://www.ebi.ac.uk/efo/EFO_0000618 |
infectious disorder of the nervous system | http://purl.obolibrary.org/obo/MONDO_0020010 | http://www.ebi.ac.uk/efo/EFO_0000618 |
tetanus | http://www.ebi.ac.uk/efo/EFO_0005593 | http://purl.obolibrary.org/obo/MONDO_0020010 |
tick paralysis | http://www.ebi.ac.uk/efo/EFO_0007509 | http://purl.obolibrary.org/obo/MONDO_0020010 |
tabes dorsalis | http://www.ebi.ac.uk/efo/EFO_0007505 | http://purl.obolibrary.org/obo/MONDO_0020010 |
perceptual disorders | http://purl.obolibrary.org/obo/MONDO_0024417 | http://www.ebi.ac.uk/efo/EFO_0000618 |
apraxia | http://purl.obolibrary.org/obo/MONDO_0000665 | http://purl.obolibrary.org/obo/MONDO_0024417 |
gait apraxia | http://www.ebi.ac.uk/efo/EFO_1000944 | http://purl.obolibrary.org/obo/MONDO_0000665 |
ideomotor apraxia | http://www.ebi.ac.uk/efo/EFO_1000980 | http://purl.obolibrary.org/obo/MONDO_0000665 |
toxic encephalopathy | http://www.ebi.ac.uk/efo/EFO_0005595 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Posterior Leukoencephalopathy Syndrome | http://www.ebi.ac.uk/efo/EFO_1001829 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Serotonin Syndrome | http://www.ebi.ac.uk/efo/EFO_1001842 | http://www.ebi.ac.uk/efo/EFO_0000618 |
spinal cord compression | http://www.ebi.ac.uk/efo/EFO_1001845 | http://www.ebi.ac.uk/efo/EFO_0000618 |
cerebrospinal fluid otorrhea | http://www.ebi.ac.uk/efo/EFO_1001775 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Central Cord Syndrome | http://www.ebi.ac.uk/efo/EFO_1001772 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Subdural Effusion | http://www.ebi.ac.uk/efo/EFO_1001429 | http://www.ebi.ac.uk/efo/EFO_0000618 |
genetic nervous system disorder | http://purl.obolibrary.org/obo/MONDO_0019117 | http://www.ebi.ac.uk/efo/EFO_0000618 |
restless legs syndrome | http://www.ebi.ac.uk/efo/EFO_0004270 | http://purl.obolibrary.org/obo/MONDO_0019117 |
oculocerebrocutaneous syndrome | http://purl.obolibrary.org/obo/MONDO_0008108 | http://purl.obolibrary.org/obo/MONDO_0019117 |
paroxysmal extreme pain disorder | http://purl.obolibrary.org/obo/MONDO_0008179 | http://purl.obolibrary.org/obo/MONDO_0019117 |
inherited orthostatic hypotension | http://purl.obolibrary.org/obo/MONDO_0021272 | http://purl.obolibrary.org/obo/MONDO_0019117 |
peho-like syndrome | http://purl.obolibrary.org/obo/MONDO_0020495 | http://purl.obolibrary.org/obo/MONDO_0019117 |
pseudo-TORCH syndrome | http://purl.obolibrary.org/obo/MONDO_0009626 | http://purl.obolibrary.org/obo/MONDO_0019117 |
pseudo-TORCH syndrome 3 | http://purl.obolibrary.org/obo/MONDO_0030044 | http://purl.obolibrary.org/obo/MONDO_0009626 |
mbd5 associated neurodevelopmental disorder | http://www.ebi.ac.uk/efo/EFO_0009072 | http://purl.obolibrary.org/obo/MONDO_0019117 |
qualitative or quantitative protein defects in neuromuscular diseases | http://purl.obolibrary.org/obo/MONDO_0016139 | http://purl.obolibrary.org/obo/MONDO_0019117 |
qualitative or quantitative defects of troponin | http://purl.obolibrary.org/obo/MONDO_0017302 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of tropomyosin | http://purl.obolibrary.org/obo/MONDO_0017303 | http://purl.obolibrary.org/obo/MONDO_0016139 |
childhood-onset nemaline myopathy | http://purl.obolibrary.org/obo/MONDO_0015738 | http://purl.obolibrary.org/obo/MONDO_0017303 |
nemaline myopathy 6 | http://purl.obolibrary.org/obo/MONDO_0012237 | http://purl.obolibrary.org/obo/MONDO_0015738 |
qualitative or quantitative defects of nebulin | http://purl.obolibrary.org/obo/MONDO_0016194 | http://purl.obolibrary.org/obo/MONDO_0016139 |
adult-onset nemaline myopathy | http://purl.obolibrary.org/obo/MONDO_0015739 | http://purl.obolibrary.org/obo/MONDO_0016194 |
qualitative or quantitative defects of alpha-actin | http://purl.obolibrary.org/obo/MONDO_0016193 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of telethonin | http://purl.obolibrary.org/obo/MONDO_0016192 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of titin | http://purl.obolibrary.org/obo/MONDO_0016191 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of plectin | http://purl.obolibrary.org/obo/MONDO_0016198 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of selenoprotein N1 | http://purl.obolibrary.org/obo/MONDO_0016197 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of emerin | http://purl.obolibrary.org/obo/MONDO_0016196 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of beta-myosin heavy chain (MYH7) | http://purl.obolibrary.org/obo/MONDO_0016195 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of protein SERCA1 | http://purl.obolibrary.org/obo/MONDO_0016199 | http://purl.obolibrary.org/obo/MONDO_0016139 |
Brody myopathy | http://purl.obolibrary.org/obo/MONDO_0010977 | http://purl.obolibrary.org/obo/MONDO_0016199 |
myopathy due to calsequestrin and SERCA1 protein overload | http://purl.obolibrary.org/obo/MONDO_0014546 | http://purl.obolibrary.org/obo/MONDO_0016199 |
qualitative or quantitative defects of myofibrillar proteins | http://purl.obolibrary.org/obo/MONDO_0016186 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of protein ZASP | http://purl.obolibrary.org/obo/MONDO_0016190 | http://purl.obolibrary.org/obo/MONDO_0016186 |
qualitative or quantitative defects of desmin | http://purl.obolibrary.org/obo/MONDO_0016187 | http://purl.obolibrary.org/obo/MONDO_0016186 |
qualitative or quantitative defects of filamin C | http://purl.obolibrary.org/obo/MONDO_0016189 | http://purl.obolibrary.org/obo/MONDO_0016186 |
myofibrillar myopathy 5 | http://purl.obolibrary.org/obo/MONDO_0012289 | http://purl.obolibrary.org/obo/MONDO_0016189 |
qualitative or quantitative defects of alphaB-cristallin | http://purl.obolibrary.org/obo/MONDO_0016188 | http://purl.obolibrary.org/obo/MONDO_0016186 |
alpha-crystallinopathy | http://purl.obolibrary.org/obo/MONDO_0020343 | http://purl.obolibrary.org/obo/MONDO_0016188 |
hypercontractile muscle stiffness syndrome | http://purl.obolibrary.org/obo/MONDO_0018779 | http://purl.obolibrary.org/obo/MONDO_0020343 |
fatal infantile hypertonic myofibrillar myopathy | http://purl.obolibrary.org/obo/MONDO_0013472 | http://purl.obolibrary.org/obo/MONDO_0018779 |
qualitative or quantitative defects of integrin alpha-7 | http://purl.obolibrary.org/obo/MONDO_0016150 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of myotubularin | http://purl.obolibrary.org/obo/MONDO_0016154 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of TRIM32 | http://purl.obolibrary.org/obo/MONDO_0016153 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of calpain | http://purl.obolibrary.org/obo/MONDO_0016152 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of perlecan | http://purl.obolibrary.org/obo/MONDO_0016151 | http://purl.obolibrary.org/obo/MONDO_0016139 |
sarcoglycanopathy | http://purl.obolibrary.org/obo/MONDO_0016140 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of gamma-sarcoglycan | http://purl.obolibrary.org/obo/MONDO_0016143 | http://purl.obolibrary.org/obo/MONDO_0016140 |
qualitative or quantitative defects of beta-sarcoglycan | http://purl.obolibrary.org/obo/MONDO_0016142 | http://purl.obolibrary.org/obo/MONDO_0016140 |
qualitative or quantitative defects of alpha-sarcoglycan | http://purl.obolibrary.org/obo/MONDO_0016141 | http://purl.obolibrary.org/obo/MONDO_0016140 |
qualitative or quantitative defects of delta-sarcoglycan | http://purl.obolibrary.org/obo/MONDO_0016144 | http://purl.obolibrary.org/obo/MONDO_0016140 |
qualitative or quantitative defects of dystrophin | http://purl.obolibrary.org/obo/MONDO_0016147 | http://purl.obolibrary.org/obo/MONDO_0016139 |
dilated cardiomyopathy 3B | http://purl.obolibrary.org/obo/MONDO_0010542 | http://purl.obolibrary.org/obo/MONDO_0016147 |
isolated asymptomatic elevation of creatine phosphokinase | http://purl.obolibrary.org/obo/MONDO_0016103 | http://purl.obolibrary.org/obo/MONDO_0016147 |
caveolinopathy | http://purl.obolibrary.org/obo/MONDO_0016146 | http://purl.obolibrary.org/obo/MONDO_0016139 |
inherited rippling muscle disease | http://purl.obolibrary.org/obo/MONDO_0020704 | http://purl.obolibrary.org/obo/MONDO_0016146 |
rippling muscle disease 2 | http://purl.obolibrary.org/obo/MONDO_0019947 | http://purl.obolibrary.org/obo/MONDO_0020704 |
qualitative or quantitative defects of dysferlin | http://purl.obolibrary.org/obo/MONDO_0016145 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of merosin | http://purl.obolibrary.org/obo/MONDO_0016149 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of myotilin | http://purl.obolibrary.org/obo/MONDO_0016201 | http://purl.obolibrary.org/obo/MONDO_0016139 |
qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - | http://purl.obolibrary.org/obo/MONDO_0016200 | http://purl.obolibrary.org/obo/MONDO_0016139 |
collagen 6-related myopathy | http://purl.obolibrary.org/obo/MONDO_0100225 | http://purl.obolibrary.org/obo/MONDO_0016139 |
myosclerosis | http://purl.obolibrary.org/obo/MONDO_0009714 | http://purl.obolibrary.org/obo/MONDO_0100225 |
qualitative or quantitative defects of alpha-dystroglycan | http://purl.obolibrary.org/obo/MONDO_0018282 | http://purl.obolibrary.org/obo/MONDO_0016139 |
primary qualitative or quantitative defects of alpha-dystroglycan | http://purl.obolibrary.org/obo/MONDO_0018283 | http://purl.obolibrary.org/obo/MONDO_0018282 |
qualitative or quantitative defects of Torsin-1A-interacting protein 1 | http://purl.obolibrary.org/obo/MONDO_0018529 | http://purl.obolibrary.org/obo/MONDO_0016139 |
alternating hemiplegia | http://purl.obolibrary.org/obo/MONDO_0016210 | http://purl.obolibrary.org/obo/MONDO_0019117 |
benign familial nocturnal alternating hemiplegia of childhood | http://purl.obolibrary.org/obo/MONDO_0016209 | http://purl.obolibrary.org/obo/MONDO_0016210 |
Rajab interstitial lung disease with brain calcifications | http://purl.obolibrary.org/obo/MONDO_0100214 | http://purl.obolibrary.org/obo/MONDO_0019117 |
Rajab interstitial lung disease with brain calcifications 2 | http://purl.obolibrary.org/obo/MONDO_0100220 | http://purl.obolibrary.org/obo/MONDO_0100214 |
Rajab interstitial lung disease with brain calcifications 1 | http://purl.obolibrary.org/obo/MONDO_0100215 | http://purl.obolibrary.org/obo/MONDO_0100214 |
orthostatic intolerance | http://www.ebi.ac.uk/efo/EFO_1000645 | http://purl.obolibrary.org/obo/MONDO_0019117 |
Rare genetic disease with myoclonus as a major feature | http://www.orpha.net/ORDO/Orphanet_307067 | http://purl.obolibrary.org/obo/MONDO_0019117 |
Epilepsy and/or ataxia with myoclonus as major feature | http://www.orpha.net/ORDO/Orphanet_306756 | http://www.orpha.net/ORDO/Orphanet_307067 |
Non progressive epilepsy and/or ataxia with myoclonus as a major feature | http://www.orpha.net/ORDO/Orphanet_306759 | http://www.orpha.net/ORDO/Orphanet_306756 |
Ramsay-Hunt syndrome | http://www.orpha.net/ORDO/Orphanet_3020 | http://www.orpha.net/ORDO/Orphanet_307067 |
ATP1A3-associated neurological disorder | http://purl.obolibrary.org/obo/MONDO_0700002 | http://purl.obolibrary.org/obo/MONDO_0019117 |
neurocutaneous syndrome | http://purl.obolibrary.org/obo/MONDO_0042983 | http://www.ebi.ac.uk/efo/EFO_0000618 |
neurotoxicity | http://www.ebi.ac.uk/efo/EFO_0011057 | http://www.ebi.ac.uk/efo/EFO_0000618 |
peripheral neurotoxicity | http://www.ebi.ac.uk/efo/EFO_0011058 | http://www.ebi.ac.uk/efo/EFO_0011057 |
central nervous system toxicity | http://www.ebi.ac.uk/efo/EFO_0011047 | http://www.ebi.ac.uk/efo/EFO_0011057 |
primary orthostatic hypotension | http://purl.obolibrary.org/obo/MONDO_0015914 | http://www.ebi.ac.uk/efo/EFO_0000618 |
cranial nerve neuropathy | http://purl.obolibrary.org/obo/MONDO_0003569 | http://www.ebi.ac.uk/efo/EFO_0000618 |
Alien Hand Syndrome | http://www.ebi.ac.uk/efo/EFO_1001261 | http://www.ebi.ac.uk/efo/EFO_0000618 |
digestive system disease | http://www.ebi.ac.uk/efo/EFO_0000405 | http://www.ebi.ac.uk/efo/EFO_0000408 |
colon diverticulum | http://www.ebi.ac.uk/efo/EFO_1001296 | http://www.ebi.ac.uk/efo/EFO_0000405 |
diarrheal disease | http://purl.obolibrary.org/obo/MONDO_0001673 | http://www.ebi.ac.uk/efo/EFO_0000405 |
chronic diarrheal disease | http://purl.obolibrary.org/obo/MONDO_0044751 | http://purl.obolibrary.org/obo/MONDO_0001673 |
chronic diarrhea due to glucoamylase deficiency | http://purl.obolibrary.org/obo/MONDO_0015169 | http://purl.obolibrary.org/obo/MONDO_0044751 |
congenital diarrhea | http://purl.obolibrary.org/obo/MONDO_0000824 | http://purl.obolibrary.org/obo/MONDO_0001673 |
congenital diarrhea 6 | http://purl.obolibrary.org/obo/MONDO_0013825 | http://purl.obolibrary.org/obo/MONDO_0000824 |
congenital secretory diarrhea | http://purl.obolibrary.org/obo/MONDO_0045032 | http://purl.obolibrary.org/obo/MONDO_0000824 |
congenital secretory chloride diarrhea 1 | http://purl.obolibrary.org/obo/MONDO_0008964 | http://purl.obolibrary.org/obo/MONDO_0045032 |
congenital sodium diarrhea | http://purl.obolibrary.org/obo/MONDO_0015170 | http://purl.obolibrary.org/obo/MONDO_0000824 |
congenital diarrhea 7 with exudative enteropathy | http://purl.obolibrary.org/obo/MONDO_0014375 | http://purl.obolibrary.org/obo/MONDO_0000824 |
inflammatory diarrhea | http://purl.obolibrary.org/obo/MONDO_0000252 | http://purl.obolibrary.org/obo/MONDO_0001673 |
gastroesophageal disease | http://purl.obolibrary.org/obo/MONDO_0015111 | http://www.ebi.ac.uk/efo/EFO_0000405 |
genetic gastro-esophageal disease | http://purl.obolibrary.org/obo/MONDO_0015617 | http://purl.obolibrary.org/obo/MONDO_0015111 |
cystic fibrosis-gastritis-megaloblastic anemia syndrome | http://purl.obolibrary.org/obo/MONDO_0009062 | http://purl.obolibrary.org/obo/MONDO_0015617 |
gastric mucosal hypertrophy | http://www.ebi.ac.uk/efo/EFO_1000946 | http://purl.obolibrary.org/obo/MONDO_0015111 |
enterocolitis | http://www.ebi.ac.uk/efo/EFO_1001481 | http://www.ebi.ac.uk/efo/EFO_0000405 |
pseudomembranous enterocolitis | http://www.ebi.ac.uk/efo/EFO_1001314 | http://www.ebi.ac.uk/efo/EFO_1001481 |
necrotizing enterocolitis | http://www.ebi.ac.uk/efo/EFO_0003928 | http://www.ebi.ac.uk/efo/EFO_1001481 |
neutropenic enterocolitis | http://www.ebi.ac.uk/efo/EFO_1001816 | http://www.ebi.ac.uk/efo/EFO_1001481 |
Chilaiditi Syndrome | http://www.ebi.ac.uk/efo/EFO_1001776 | http://www.ebi.ac.uk/efo/EFO_0000405 |
chemotherapy-induced gastrointestinal mucositis | http://www.ebi.ac.uk/efo/EFO_1001880 | http://www.ebi.ac.uk/efo/EFO_0000405 |
stomach diverticulum | http://www.ebi.ac.uk/efo/EFO_1001850 | http://www.ebi.ac.uk/efo/EFO_0000405 |
autoimmune disorder of gastrointestinal tract | http://purl.obolibrary.org/obo/MONDO_0000588 | http://www.ebi.ac.uk/efo/EFO_0000405 |
autoimmune enteropathy | http://purl.obolibrary.org/obo/MONDO_0019787 | http://purl.obolibrary.org/obo/MONDO_0000588 |
celiac disease | http://www.ebi.ac.uk/efo/EFO_0001060 | http://purl.obolibrary.org/obo/MONDO_0000588 |
congenital enteropathy due to enteropeptidase deficiency | http://purl.obolibrary.org/obo/MONDO_0009173 | http://www.ebi.ac.uk/efo/EFO_0000405 |
peptic ulcer disease | http://purl.obolibrary.org/obo/MONDO_0004247 | http://www.ebi.ac.uk/efo/EFO_0000405 |
Peptic ulcer perforation | http://www.ebi.ac.uk/efo/EFO_1001389 | http://purl.obolibrary.org/obo/MONDO_0004247 |
duodenal ulcer | http://www.ebi.ac.uk/efo/EFO_0004607 | http://purl.obolibrary.org/obo/MONDO_0004247 |
gastric ulcer | http://www.ebi.ac.uk/efo/EFO_0009454 | http://purl.obolibrary.org/obo/MONDO_0004247 |
rotavirus infection | http://www.ebi.ac.uk/efo/EFO_0002622 | http://www.ebi.ac.uk/efo/EFO_0000405 |
hymenolepiasis | http://www.ebi.ac.uk/efo/EFO_0007317 | http://www.ebi.ac.uk/efo/EFO_0000405 |
small intestine enteropathy | http://www.ebi.ac.uk/efo/EFO_0009705 | http://www.ebi.ac.uk/efo/EFO_0000405 |
dicrocoeliasis | http://www.ebi.ac.uk/efo/EFO_0007234 | http://www.ebi.ac.uk/efo/EFO_0000405 |
disease of peritoneum | http://www.ebi.ac.uk/efo/EFO_0009541 | http://www.ebi.ac.uk/efo/EFO_0000405 |
peritonitis | http://www.ebi.ac.uk/efo/EFO_0008588 | http://www.ebi.ac.uk/efo/EFO_0009541 |
tuberculous peritonitis | http://www.ebi.ac.uk/efo/EFO_0007529 | http://www.ebi.ac.uk/efo/EFO_0008588 |
septic peritonitis | http://www.ebi.ac.uk/efo/EFO_0002623 | http://www.ebi.ac.uk/efo/EFO_0008588 |
flatulence | http://www.ebi.ac.uk/efo/EFO_0009669 | http://www.ebi.ac.uk/efo/EFO_0000405 |
gastrointestinal disease | http://www.ebi.ac.uk/efo/EFO_0010282 | http://www.ebi.ac.uk/efo/EFO_0000405 |
gastrointestinal toxicity | http://www.ebi.ac.uk/efo/EFO_0011050 | http://www.ebi.ac.uk/efo/EFO_0010282 |
stomach rupture | http://www.ebi.ac.uk/efo/EFO_1001851 | http://www.ebi.ac.uk/efo/EFO_0010282 |
staphyloenterotoxemia | http://www.ebi.ac.uk/efo/EFO_0007497 | http://www.ebi.ac.uk/efo/EFO_0010282 |
trichuriasis | http://www.ebi.ac.uk/efo/EFO_0007524 | http://www.ebi.ac.uk/efo/EFO_0010282 |
necatoriasis | http://www.ebi.ac.uk/efo/EFO_0007390 | http://www.ebi.ac.uk/efo/EFO_0010282 |
paratyphoid fever | http://www.ebi.ac.uk/efo/EFO_0007420 | http://www.ebi.ac.uk/efo/EFO_0010282 |
oesophagostomiasis | http://www.ebi.ac.uk/efo/EFO_0007400 | http://www.ebi.ac.uk/efo/EFO_0010282 |
ascariasis | http://www.ebi.ac.uk/efo/EFO_0007154 | http://www.ebi.ac.uk/efo/EFO_0010282 |
ascaridiasis | http://www.ebi.ac.uk/efo/EFO_0007155 | http://www.ebi.ac.uk/efo/EFO_0010282 |
echinostomiasis | http://www.ebi.ac.uk/efo/EFO_0007246 | http://www.ebi.ac.uk/efo/EFO_0010282 |
coccidiosis | http://www.ebi.ac.uk/efo/EFO_0007212 | http://www.ebi.ac.uk/efo/EFO_0010282 |
cryptosporidiosis | http://purl.obolibrary.org/obo/MONDO_0015474 | http://www.ebi.ac.uk/efo/EFO_0007212 |
toxoplasmosis | http://www.ebi.ac.uk/efo/EFO_0007517 | http://www.ebi.ac.uk/efo/EFO_0007212 |
sarcocystosis | http://www.ebi.ac.uk/efo/EFO_0007476 | http://www.ebi.ac.uk/efo/EFO_0007212 |
cyclosporiasis | http://www.ebi.ac.uk/efo/EFO_0007230 | http://www.ebi.ac.uk/efo/EFO_0007212 |
cystoisosporiasis | http://www.ebi.ac.uk/efo/EFO_0007232 | http://www.ebi.ac.uk/efo/EFO_0007212 |
intestinal disease | http://www.ebi.ac.uk/efo/EFO_0009431 | http://www.ebi.ac.uk/efo/EFO_0010282 |
pneumatosis cystoides intestinalis | http://www.ebi.ac.uk/efo/EFO_1001113 | http://www.ebi.ac.uk/efo/EFO_0009431 |
neurogenic bowel | http://www.ebi.ac.uk/efo/EFO_1001061 | http://www.ebi.ac.uk/efo/EFO_0009431 |
intestinal motility disease | http://purl.obolibrary.org/obo/MONDO_0021189 | http://www.ebi.ac.uk/efo/EFO_0009431 |
intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | http://purl.obolibrary.org/obo/MONDO_0013843 | http://purl.obolibrary.org/obo/MONDO_0021189 |
chronic intestinal pseudoobstruction | http://purl.obolibrary.org/obo/MONDO_0017574 | http://purl.obolibrary.org/obo/MONDO_0021189 |
myopathic intestinal pseudoobstruction | http://purl.obolibrary.org/obo/MONDO_0015191 | http://purl.obolibrary.org/obo/MONDO_0017574 |
Haddad syndrome | http://purl.obolibrary.org/obo/MONDO_0020493 | http://purl.obolibrary.org/obo/MONDO_0021189 |
familial visceral myopathy | http://purl.obolibrary.org/obo/MONDO_0016829 | http://purl.obolibrary.org/obo/MONDO_0021189 |
intestinal atresia | http://purl.obolibrary.org/obo/MONDO_0001045 | http://www.ebi.ac.uk/efo/EFO_0009431 |
infantile hypertrophic pyloric stenosis | http://www.ebi.ac.uk/efo/EFO_0004707 | http://www.ebi.ac.uk/efo/EFO_0009431 |
acquired hypertrophic pyloric stenosis | http://purl.obolibrary.org/obo/MONDO_0001878 | http://www.ebi.ac.uk/efo/EFO_0004707 |
inherited hypertrophic pyloric stenosis | http://purl.obolibrary.org/obo/MONDO_0100239 | http://www.ebi.ac.uk/efo/EFO_0004707 |
short bowel syndrome | http://purl.obolibrary.org/obo/MONDO_0015183 | http://www.ebi.ac.uk/efo/EFO_0009431 |
primary short bowel syndrome | http://purl.obolibrary.org/obo/MONDO_0018241 | http://purl.obolibrary.org/obo/MONDO_0015183 |
congenital intestinal transport defect | http://purl.obolibrary.org/obo/MONDO_0015178 | http://www.ebi.ac.uk/efo/EFO_0009431 |
glucose-galactose malabsorption | http://purl.obolibrary.org/obo/MONDO_0011731 | http://purl.obolibrary.org/obo/MONDO_0015178 |
hereditary fructose intolerance | http://purl.obolibrary.org/obo/MONDO_0009249 | http://purl.obolibrary.org/obo/MONDO_0015178 |
intractable diarrhea of infancy | http://purl.obolibrary.org/obo/MONDO_0019126 | http://www.ebi.ac.uk/efo/EFO_0009431 |
gastroenteritis | http://www.ebi.ac.uk/efo/EFO_1001463 | http://www.ebi.ac.uk/efo/EFO_0009431 |
diverticulitis | http://www.ebi.ac.uk/efo/EFO_1001460 | http://www.ebi.ac.uk/efo/EFO_1001463 |
diverticulitis of colon | http://purl.obolibrary.org/obo/MONDO_0001674 | http://www.ebi.ac.uk/efo/EFO_1001460 |
appendicitis | http://www.ebi.ac.uk/efo/EFO_0007149 | http://www.ebi.ac.uk/efo/EFO_1001460 |
perianal Crohn's disease | http://www.ebi.ac.uk/efo/EFO_0005627 | http://www.ebi.ac.uk/efo/EFO_1001463 |
intestinal infectious disease | http://purl.obolibrary.org/obo/MONDO_0000916 | http://www.ebi.ac.uk/efo/EFO_1001463 |
colitis | http://www.ebi.ac.uk/efo/EFO_0003872 | http://www.ebi.ac.uk/efo/EFO_1001463 |
microscopic colitis | http://www.ebi.ac.uk/efo/EFO_1001295 | http://www.ebi.ac.uk/efo/EFO_0003872 |
collagenous colitis | http://www.ebi.ac.uk/efo/EFO_1001293 | http://www.ebi.ac.uk/efo/EFO_1001295 |
lymphocytic colitis | http://www.ebi.ac.uk/efo/EFO_1001294 | http://www.ebi.ac.uk/efo/EFO_1001295 |
ileocolitis | http://www.ebi.ac.uk/efo/EFO_0005624 | http://www.ebi.ac.uk/efo/EFO_0003872 |
ischemic colitis | http://purl.obolibrary.org/obo/MONDO_0000701 | http://www.ebi.ac.uk/efo/EFO_0003872 |
infectious colitis | http://www.ebi.ac.uk/efo/EFO_1000035 | http://www.ebi.ac.uk/efo/EFO_0003872 |
indeterminate colitis | http://www.ebi.ac.uk/efo/EFO_1000034 | http://www.ebi.ac.uk/efo/EFO_0003872 |
ulcerative colitis | http://www.ebi.ac.uk/efo/EFO_0000729 | http://www.ebi.ac.uk/efo/EFO_0003872 |
pancolitis | http://www.ebi.ac.uk/efo/EFO_0005626 | http://www.ebi.ac.uk/efo/EFO_0000729 |
distal colitis | http://www.ebi.ac.uk/efo/EFO_0005623 | http://www.ebi.ac.uk/efo/EFO_0000729 |
Salmonella gastroenteritis | http://www.ebi.ac.uk/efo/EFO_0007475 | http://www.ebi.ac.uk/efo/EFO_1001463 |
campylobacteriosis | http://www.ebi.ac.uk/efo/EFO_0007190 | http://www.ebi.ac.uk/efo/EFO_1001463 |
enteritis | http://purl.obolibrary.org/obo/MONDO_0043579 | http://www.ebi.ac.uk/efo/EFO_1001463 |
small bowel Crohn's disease | http://www.ebi.ac.uk/efo/EFO_0005629 | http://purl.obolibrary.org/obo/MONDO_0043579 |
Crohn ileitis | http://purl.obolibrary.org/obo/MONDO_0000709 | http://www.ebi.ac.uk/efo/EFO_0005629 |
duodenitis | http://purl.obolibrary.org/obo/MONDO_0004627 | http://purl.obolibrary.org/obo/MONDO_0043579 |
malacoplakia | http://www.ebi.ac.uk/efo/EFO_1001807 | http://www.ebi.ac.uk/efo/EFO_0009431 |
visceral myopathy | http://purl.obolibrary.org/obo/MONDO_0020754 | http://www.ebi.ac.uk/efo/EFO_0009431 |
small intestine disorder | http://purl.obolibrary.org/obo/MONDO_0024635 | http://www.ebi.ac.uk/efo/EFO_0009431 |
pouchitis | http://www.ebi.ac.uk/efo/EFO_0003921 | http://purl.obolibrary.org/obo/MONDO_0024635 |
duodenal disorder | http://purl.obolibrary.org/obo/MONDO_0002866 | http://purl.obolibrary.org/obo/MONDO_0024635 |
large intestine disorder | http://purl.obolibrary.org/obo/MONDO_0024634 | http://www.ebi.ac.uk/efo/EFO_0009431 |
colonic disorder | http://purl.obolibrary.org/obo/MONDO_0003409 | http://purl.obolibrary.org/obo/MONDO_0024634 |
cecal disorder | http://purl.obolibrary.org/obo/MONDO_0002031 | http://purl.obolibrary.org/obo/MONDO_0003409 |
Colon Dysplasia | http://www.ebi.ac.uk/efo/EFO_1000183 | http://purl.obolibrary.org/obo/MONDO_0003409 |
Crohn's colitis | http://www.ebi.ac.uk/efo/EFO_0005622 | http://purl.obolibrary.org/obo/MONDO_0024634 |
rectal disease | http://www.ebi.ac.uk/efo/EFO_0009685 | http://purl.obolibrary.org/obo/MONDO_0024634 |
anus disease | http://www.ebi.ac.uk/efo/EFO_0009660 | http://www.ebi.ac.uk/efo/EFO_0009685 |
proctitis | http://www.ebi.ac.uk/efo/EFO_0005628 | http://www.ebi.ac.uk/efo/EFO_0009660 |
disorder of appendix | http://www.ebi.ac.uk/efo/EFO_0009542 | http://purl.obolibrary.org/obo/MONDO_0024634 |
inflammatory bowel disease | http://www.ebi.ac.uk/efo/EFO_0003767 | http://www.ebi.ac.uk/efo/EFO_0009431 |
ulcerative proctosigmoiditis | http://www.ebi.ac.uk/efo/EFO_1001223 | http://www.ebi.ac.uk/efo/EFO_0003767 |
Autosomal recessive early-onset inflammatory bowel disease | http://www.orpha.net/ORDO/Orphanet_238569 | http://www.ebi.ac.uk/efo/EFO_0003767 |
Crohn's disease | http://www.ebi.ac.uk/efo/EFO_0000384 | http://www.ebi.ac.uk/efo/EFO_0003767 |
bowel dysfunction | http://purl.obolibrary.org/obo/MONDO_0004880 | http://www.ebi.ac.uk/efo/EFO_0009431 |
constipation disorder | http://purl.obolibrary.org/obo/MONDO_0002203 | http://purl.obolibrary.org/obo/MONDO_0004880 |
NK-cell enteropathy | http://purl.obolibrary.org/obo/MONDO_0016996 | http://www.ebi.ac.uk/efo/EFO_0009431 |
intestinal obstruction | http://purl.obolibrary.org/obo/MONDO_0004565 | http://www.ebi.ac.uk/efo/EFO_0009431 |
intestinal impaction | http://purl.obolibrary.org/obo/MONDO_0004571 | http://purl.obolibrary.org/obo/MONDO_0004565 |
ileus | http://purl.obolibrary.org/obo/MONDO_0004567 | http://purl.obolibrary.org/obo/MONDO_0004565 |
cystic fibrosis associated meconium ileus | http://www.ebi.ac.uk/efo/EFO_0004608 | http://purl.obolibrary.org/obo/MONDO_0004567 |
postgastrectomy syndrome | http://purl.obolibrary.org/obo/MONDO_0004566 | http://www.ebi.ac.uk/efo/EFO_0009431 |
afferent loop syndrome | http://www.ebi.ac.uk/efo/EFO_1000799 | http://purl.obolibrary.org/obo/MONDO_0004566 |
diverticular disease | http://www.ebi.ac.uk/efo/EFO_0009959 | http://www.ebi.ac.uk/efo/EFO_0009431 |
intestinal lymphangiectasia | http://purl.obolibrary.org/obo/MONDO_0018178 | http://www.ebi.ac.uk/efo/EFO_0009431 |
primary intestinal lymphangiectasia | http://purl.obolibrary.org/obo/MONDO_0007916 | http://purl.obolibrary.org/obo/MONDO_0018178 |
fecal incontinence | http://www.ebi.ac.uk/efo/EFO_0009523 | http://www.ebi.ac.uk/efo/EFO_0009431 |
malabsorption syndrome | http://www.ebi.ac.uk/efo/EFO_0009554 | http://www.ebi.ac.uk/efo/EFO_0009431 |
Congenital sucrase-isomaltase deficiency | http://www.orpha.net/ORDO/Orphanet_35122 | http://www.ebi.ac.uk/efo/EFO_0009554 |
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance | http://www.orpha.net/ORDO/Orphanet_306474 | http://www.orpha.net/ORDO/Orphanet_35122 |
Congenital sucrase-isomaltase deficiency without starch intolerance | http://www.orpha.net/ORDO/Orphanet_306462 | http://www.orpha.net/ORDO/Orphanet_35122 |
Congenital sucrase-isomaltase deficiency without sucrose intolerance | http://www.orpha.net/ORDO/Orphanet_306486 | http://www.orpha.net/ORDO/Orphanet_35122 |
Congenital sucrase-isomaltase deficiency with minimal starch tolerance | http://www.orpha.net/ORDO/Orphanet_306446 | http://www.orpha.net/ORDO/Orphanet_35122 |
Congenital sucrase-isomaltase deficiency with starch intolerance | http://www.orpha.net/ORDO/Orphanet_306436 | http://www.orpha.net/ORDO/Orphanet_35122 |
tropical sprue | http://purl.obolibrary.org/obo/MONDO_0001078 | http://www.ebi.ac.uk/efo/EFO_0009554 |
Genetic intestinal disease due to fat malabsorption | http://www.orpha.net/ORDO/Orphanet_363306 | http://www.ebi.ac.uk/efo/EFO_0009554 |
Acrodermatitis enteropathica | http://www.orpha.net/ORDO/Orphanet_37 | http://www.orpha.net/ORDO/Orphanet_363306 |
intestinal disease due to fat malabsorption | http://purl.obolibrary.org/obo/MONDO_0015180 | http://www.ebi.ac.uk/efo/EFO_0009554 |
chylomicron retention disease | http://purl.obolibrary.org/obo/MONDO_0009528 | http://purl.obolibrary.org/obo/MONDO_0015180 |
acrodermatitis enteropathica | http://purl.obolibrary.org/obo/MONDO_0008713 | http://purl.obolibrary.org/obo/MONDO_0015180 |
intestinal disease due to vitamin absorption anomaly | http://purl.obolibrary.org/obo/MONDO_0015179 | http://www.ebi.ac.uk/efo/EFO_0009554 |
intestinal disaccharide deficiency and disaccharide malabsorption | http://www.ebi.ac.uk/efo/EFO_1000060 | http://www.ebi.ac.uk/efo/EFO_0009554 |
congenital sucrase-isomaltase deficiency | http://purl.obolibrary.org/obo/MONDO_0009114 | http://www.ebi.ac.uk/efo/EFO_1000060 |
congenital sucrase-isomaltase deficiency with minimal starch tolerance | http://purl.obolibrary.org/obo/MONDO_0017619 | http://purl.obolibrary.org/obo/MONDO_0009114 |
congenital sucrase-isomaltase deficiency with starch and lactose intolerance | http://purl.obolibrary.org/obo/MONDO_0017621 | http://purl.obolibrary.org/obo/MONDO_0009114 |
congenital sucrase-isomaltase deficiency without starch intolerance | http://purl.obolibrary.org/obo/MONDO_0017620 | http://purl.obolibrary.org/obo/MONDO_0009114 |
congenital sucrase-isomaltase deficiency without sucrose intolerance | http://purl.obolibrary.org/obo/MONDO_0017622 | http://purl.obolibrary.org/obo/MONDO_0009114 |
congenital sucrase-isomaltase deficiency with starch intolerance | http://purl.obolibrary.org/obo/MONDO_0017618 | http://purl.obolibrary.org/obo/MONDO_0009114 |
lactose intolerance | http://www.ebi.ac.uk/efo/EFO_1000062 | http://www.ebi.ac.uk/efo/EFO_0009554 |
lactose intolerance adult type | http://www.ebi.ac.uk/efo/EFO_1000063 | http://www.ebi.ac.uk/efo/EFO_1000062 |
Intestinal disease due to vitamin absorption anomaly | http://www.orpha.net/ORDO/Orphanet_104004 | http://www.ebi.ac.uk/efo/EFO_0009554 |
blind loop syndrome | http://www.ebi.ac.uk/efo/EFO_0007175 | http://www.ebi.ac.uk/efo/EFO_0009554 |
parasitic intestinal disease | http://www.ebi.ac.uk/efo/EFO_0009561 | http://www.ebi.ac.uk/efo/EFO_0009431 |
giardiasis | http://purl.obolibrary.org/obo/DOID_10718 | http://www.ebi.ac.uk/efo/EFO_0009561 |
intestinal helminthiasis | http://purl.obolibrary.org/obo/MONDO_0024271 | http://www.ebi.ac.uk/efo/EFO_0009561 |
Taeniasis | http://www.ebi.ac.uk/efo/EFO_1001433 | http://purl.obolibrary.org/obo/MONDO_0024271 |
cysticercosis | http://www.ebi.ac.uk/efo/EFO_0007231 | http://www.ebi.ac.uk/efo/EFO_1001433 |
anisakiasis | http://www.ebi.ac.uk/efo/EFO_0007146 | http://purl.obolibrary.org/obo/MONDO_0024271 |
Blastocystis hominis infectious disease | http://www.ebi.ac.uk/efo/EFO_0007173 | http://www.ebi.ac.uk/efo/EFO_0009561 |
balantidiasis | http://www.ebi.ac.uk/efo/EFO_0007163 | http://www.ebi.ac.uk/efo/EFO_0009561 |
refractory celiac disease | http://www.ebi.ac.uk/efo/EFO_0009266 | http://www.ebi.ac.uk/efo/EFO_0009431 |
eosinophilic gastrointestinal disease | http://purl.obolibrary.org/obo/MONDO_0018438 | http://www.ebi.ac.uk/efo/EFO_0009431 |
intestinal perforation | http://www.ebi.ac.uk/efo/EFO_1000987 | http://www.ebi.ac.uk/efo/EFO_0009431 |
foreign body in gastrointestinal tract | http://www.ebi.ac.uk/efo/EFO_0009526 | http://www.ebi.ac.uk/efo/EFO_0010282 |
Genetic intestinal disease | http://www.orpha.net/ORDO/Orphanet_165655 | http://www.ebi.ac.uk/efo/EFO_0010282 |
Primary short bowel syndrome | http://www.orpha.net/ORDO/Orphanet_365563 | http://www.orpha.net/ORDO/Orphanet_165655 |
Congenital short bowel syndrome | http://www.orpha.net/ORDO/Orphanet_2301 | http://www.orpha.net/ORDO/Orphanet_365563 |
Atresia of small intestine | http://www.orpha.net/ORDO/Orphanet_1201 | http://www.orpha.net/ORDO/Orphanet_365563 |
Neonatal inflammatory skin and bowel disease | http://www.orpha.net/ORDO/Orphanet_294023 | http://www.orpha.net/ORDO/Orphanet_165655 |
Genetic intestinal polyposis | http://www.orpha.net/ORDO/Orphanet_363314 | http://www.orpha.net/ORDO/Orphanet_165655 |
Juvenile polyposis syndrome | http://www.orpha.net/ORDO/Orphanet_2929 | http://www.orpha.net/ORDO/Orphanet_363314 |
Generalized juvenile polyposis/juvenile polyposis coli | http://www.orpha.net/ORDO/Orphanet_329971 | http://www.orpha.net/ORDO/Orphanet_2929 |
Juvenile polyposis of infancy | http://www.orpha.net/ORDO/Orphanet_79076 | http://www.orpha.net/ORDO/Orphanet_2929 |
Hereditary mixed polyposis syndrome | http://www.orpha.net/ORDO/Orphanet_157794 | http://www.orpha.net/ORDO/Orphanet_363314 |
mutyh-associated polyposis | http://www.ebi.ac.uk/efo/EFO_0009296 | http://www.orpha.net/ORDO/Orphanet_363314 |
Genetic intractable diarrhea of infancy | http://www.orpha.net/ORDO/Orphanet_363300 | http://www.orpha.net/ORDO/Orphanet_165655 |
Syndromic diarrhea | http://www.orpha.net/ORDO/Orphanet_84064 | http://www.orpha.net/ORDO/Orphanet_363300 |
Intractable diarrhea - choanal atresia - eye anomalies | http://www.orpha.net/ORDO/Orphanet_137622 | http://www.orpha.net/ORDO/Orphanet_363300 |
Microvillus inclusion disease | http://www.orpha.net/ORDO/Orphanet_2290 | http://www.orpha.net/ORDO/Orphanet_363300 |
Congenital chronic diarrhea with protein-losing enteropathy | http://www.orpha.net/ORDO/Orphanet_329242 | http://www.orpha.net/ORDO/Orphanet_363300 |
Chronic diarrhea with villous atrophy | http://www.orpha.net/ORDO/Orphanet_1670 | http://www.orpha.net/ORDO/Orphanet_363300 |
Intestinal epithelial dysplasia | http://www.orpha.net/ORDO/Orphanet_92050 | http://www.orpha.net/ORDO/Orphanet_363300 |
Aplasia cutis congenita - intestinal lymphangiectasia | http://www.orpha.net/ORDO/Orphanet_1116 | http://www.orpha.net/ORDO/Orphanet_165655 |
Metabolic disease with intestinal involvement | http://www.orpha.net/ORDO/Orphanet_104013 | http://www.orpha.net/ORDO/Orphanet_165655 |
Congenital disorder of glycosylation with intestinal involvement | http://www.orpha.net/ORDO/Orphanet_371188 | http://www.orpha.net/ORDO/Orphanet_104013 |
Congenital intestinal transport defect | http://www.orpha.net/ORDO/Orphanet_104003 | http://www.orpha.net/ORDO/Orphanet_165655 |
Glucose-galactose malabsorption | http://www.orpha.net/ORDO/Orphanet_35710 | http://www.orpha.net/ORDO/Orphanet_104003 |
Congenital sodium diarrhea | http://www.orpha.net/ORDO/Orphanet_103908 | http://www.orpha.net/ORDO/Orphanet_104003 |
Hereditary fructose intolerance | http://www.orpha.net/ORDO/Orphanet_469 | http://www.orpha.net/ORDO/Orphanet_104003 |
Congenital chloride diarrhea | http://www.orpha.net/ORDO/Orphanet_53689 | http://www.orpha.net/ORDO/Orphanet_104003 |
Congenital intestinal disease due to an enzymatic defect | http://www.orpha.net/ORDO/Orphanet_104006 | http://www.orpha.net/ORDO/Orphanet_165655 |
Chronic diarrhea due to glucoamylase deficiency | http://www.orpha.net/ORDO/Orphanet_103907 | http://www.orpha.net/ORDO/Orphanet_104006 |
Diarrhea-vomiting due to trehalase deficiency | http://www.orpha.net/ORDO/Orphanet_103909 | http://www.orpha.net/ORDO/Orphanet_104006 |
Congenital enteropathy due to enteropeptidase deficiency | http://www.orpha.net/ORDO/Orphanet_168601 | http://www.orpha.net/ORDO/Orphanet_104006 |
Congenital lactase deficiency | http://www.orpha.net/ORDO/Orphanet_53690 | http://www.orpha.net/ORDO/Orphanet_104006 |
Congenital enteropathy involving intestinal mucosa development | http://www.orpha.net/ORDO/Orphanet_104007 | http://www.orpha.net/ORDO/Orphanet_165655 |
Congenital enterocyte heparan sulfate deficiency | http://www.orpha.net/ORDO/Orphanet_103910 | http://www.orpha.net/ORDO/Orphanet_104007 |
Epithelio-exfoliative colitis - deafness | http://www.orpha.net/ORDO/Orphanet_103912 | http://www.orpha.net/ORDO/Orphanet_104007 |
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells | http://www.orpha.net/ORDO/Orphanet_83620 | http://www.orpha.net/ORDO/Orphanet_104007 |
Congenital intestinal motility disorder | http://www.orpha.net/ORDO/Orphanet_104009 | http://www.orpha.net/ORDO/Orphanet_165655 |
Familial visceral myopathy | http://www.orpha.net/ORDO/Orphanet_2604 | http://www.orpha.net/ORDO/Orphanet_104009 |
Chronic diarrhea due to guanylate cyclase 2C overactivity | http://www.orpha.net/ORDO/Orphanet_314373 | http://www.orpha.net/ORDO/Orphanet_104009 |
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | http://www.orpha.net/ORDO/Orphanet_314376 | http://www.orpha.net/ORDO/Orphanet_104009 |
Chronic intestinal pseudoobstruction | http://www.orpha.net/ORDO/Orphanet_2978 | http://www.orpha.net/ORDO/Orphanet_104009 |
Neuronal intestinal pseudoobstruction | http://www.orpha.net/ORDO/Orphanet_99811 | http://www.orpha.net/ORDO/Orphanet_2978 |
Myopathic intestinal pseudoobstruction | http://www.orpha.net/ORDO/Orphanet_104077 | http://www.orpha.net/ORDO/Orphanet_2978 |
Unclassified intestinal pseudoobstruction | http://www.orpha.net/ORDO/Orphanet_104078 | http://www.orpha.net/ORDO/Orphanet_2978 |
Multisystemic smooth muscle dysfunction syndrome | http://www.orpha.net/ORDO/Orphanet_404463 | http://www.orpha.net/ORDO/Orphanet_104009 |
Primary intestinal lymphangiectasia | http://www.orpha.net/ORDO/Orphanet_90362 | http://www.orpha.net/ORDO/Orphanet_165655 |
stomach disease | http://www.ebi.ac.uk/efo/EFO_0009608 | http://www.ebi.ac.uk/efo/EFO_0010282 |
functional gastric disease | http://purl.obolibrary.org/obo/MONDO_0001318 | http://www.ebi.ac.uk/efo/EFO_0009608 |
dyspepsia | http://www.ebi.ac.uk/efo/EFO_0008533 | http://purl.obolibrary.org/obo/MONDO_0001318 |
gastroparesis | http://www.ebi.ac.uk/efo/EFO_1000948 | http://purl.obolibrary.org/obo/MONDO_0001318 |
gastritis | http://www.ebi.ac.uk/efo/EFO_0000217 | http://www.ebi.ac.uk/efo/EFO_0009608 |
chronic gastritis | http://www.ebi.ac.uk/efo/EFO_0000337 | http://www.ebi.ac.uk/efo/EFO_0000217 |
atrophic gastritis | http://www.ebi.ac.uk/efo/EFO_1000826 | http://www.ebi.ac.uk/efo/EFO_0000337 |
alcoholic gastritis | http://purl.obolibrary.org/obo/MONDO_0004640 | http://www.ebi.ac.uk/efo/EFO_0000217 |
pyloric stenosis | http://www.ebi.ac.uk/efo/EFO_0009626 | http://www.ebi.ac.uk/efo/EFO_0009608 |
gastric antral vascular ectasia | http://www.ebi.ac.uk/efo/EFO_1000945 | http://www.ebi.ac.uk/efo/EFO_0010282 |
intestinal volvulus | http://www.ebi.ac.uk/efo/EFO_1000989 | http://www.ebi.ac.uk/efo/EFO_0010282 |
digestive system infectious disorder | http://purl.obolibrary.org/obo/MONDO_0043424 | http://www.ebi.ac.uk/efo/EFO_0000405 |
gastrointestinal tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007280 | http://purl.obolibrary.org/obo/MONDO_0043424 |
hepatobiliary disease | http://www.ebi.ac.uk/efo/EFO_0010284 | http://www.ebi.ac.uk/efo/EFO_0000405 |
hereditary hemochromatosis type 1 | http://www.ebi.ac.uk/efo/EFO_0006513 | http://www.ebi.ac.uk/efo/EFO_0010284 |
Rare genetic hepatic disease | http://www.orpha.net/ORDO/Orphanet_156601 | http://www.ebi.ac.uk/efo/EFO_0010284 |
Rare metabolic liver disease | http://www.orpha.net/ORDO/Orphanet_101940 | http://www.orpha.net/ORDO/Orphanet_156601 |
Glycogen storage disease due to GLUT2 deficiency | http://www.orpha.net/ORDO/Orphanet_2088 | http://www.orpha.net/ORDO/Orphanet_101940 |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | http://www.orpha.net/ORDO/Orphanet_137681 | http://www.orpha.net/ORDO/Orphanet_101940 |
FTH1-related iron overload | http://www.orpha.net/ORDO/Orphanet_247790 | http://www.orpha.net/ORDO/Orphanet_101940 |
Glycogen storage disease due to liver phosphorylase kinase deficiency | http://www.orpha.net/ORDO/Orphanet_264580 | http://www.orpha.net/ORDO/Orphanet_101940 |
Tyrosinemia type 1 | http://www.orpha.net/ORDO/Orphanet_882 | http://www.orpha.net/ORDO/Orphanet_101940 |
Neonatal hemochromatosis | http://www.orpha.net/ORDO/Orphanet_446 | http://www.orpha.net/ORDO/Orphanet_101940 |
Glycogen storage disease due to glucose-6-phosphatase deficiency | http://www.orpha.net/ORDO/Orphanet_364 | http://www.orpha.net/ORDO/Orphanet_101940 |
Glycogen storage disease due to glucose-6-phosphatase deficiency type b | http://www.orpha.net/ORDO/Orphanet_79259 | http://www.orpha.net/ORDO/Orphanet_364 |
Glycogen storage disease due to glucose-6-phosphatase deficiency type a | http://www.orpha.net/ORDO/Orphanet_79258 | http://www.orpha.net/ORDO/Orphanet_364 |
Glycogen storage disease due to glycogen branching enzyme deficiency | http://www.orpha.net/ORDO/Orphanet_367 | http://www.orpha.net/ORDO/Orphanet_101940 |
Adult polyglucosan body disease | http://www.orpha.net/ORDO/Orphanet_206583 | http://www.orpha.net/ORDO/Orphanet_367 |
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | http://www.orpha.net/ORDO/Orphanet_308712 | http://www.orpha.net/ORDO/Orphanet_367 |
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | http://www.orpha.net/ORDO/Orphanet_308638 | http://www.orpha.net/ORDO/Orphanet_367 |
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | http://www.orpha.net/ORDO/Orphanet_308670 | http://www.orpha.net/ORDO/Orphanet_367 |
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | http://www.orpha.net/ORDO/Orphanet_308655 | http://www.orpha.net/ORDO/Orphanet_367 |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | http://www.orpha.net/ORDO/Orphanet_308684 | http://www.orpha.net/ORDO/Orphanet_367 |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | http://www.orpha.net/ORDO/Orphanet_308698 | http://www.orpha.net/ORDO/Orphanet_367 |
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | http://www.orpha.net/ORDO/Orphanet_308621 | http://www.orpha.net/ORDO/Orphanet_367 |
Rare hereditary hemochromatosis | http://www.orpha.net/ORDO/Orphanet_220489 | http://www.orpha.net/ORDO/Orphanet_101940 |
Hemochromatosis type 3 | http://www.orpha.net/ORDO/Orphanet_225123 | http://www.orpha.net/ORDO/Orphanet_220489 |
Hemochromatosis type 4 | http://www.orpha.net/ORDO/Orphanet_139491 | http://www.orpha.net/ORDO/Orphanet_220489 |
Hemochromatosis type 2 | http://www.orpha.net/ORDO/Orphanet_79230 | http://www.orpha.net/ORDO/Orphanet_220489 |
Steroid dehydrogenase deficiency - dental anomalies | http://www.orpha.net/ORDO/Orphanet_3196 | http://www.orpha.net/ORDO/Orphanet_101940 |
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | http://www.orpha.net/ORDO/Orphanet_217371 | http://www.orpha.net/ORDO/Orphanet_101940 |
Congenital disorder of glycosylation with hepatic involvement | http://www.orpha.net/ORDO/Orphanet_371157 | http://www.orpha.net/ORDO/Orphanet_101940 |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | http://www.orpha.net/ORDO/Orphanet_329178 | http://www.orpha.net/ORDO/Orphanet_371157 |
ALG13-CDG | http://www.orpha.net/ORDO/Orphanet_324422 | http://www.orpha.net/ORDO/Orphanet_371157 |
hepatic failure, early-onset, and neurologic disorder due to cytochrome c oxidase deficiency | http://www.ebi.ac.uk/efo/EFO_0009298 | http://www.orpha.net/ORDO/Orphanet_101940 |
Peroxisome biogenesis disorder-Zellweger syndrome spectrum | http://www.orpha.net/ORDO/Orphanet_79189 | http://www.orpha.net/ORDO/Orphanet_101940 |
Transient familial neonatal hyperbilirubinemia | http://www.orpha.net/ORDO/Orphanet_2312 | http://www.orpha.net/ORDO/Orphanet_156601 |
Genetic parenchymatous liver disease | http://www.orpha.net/ORDO/Orphanet_156604 | http://www.orpha.net/ORDO/Orphanet_156601 |
Hepatic fibrosis - renal cysts - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2031 | http://www.orpha.net/ORDO/Orphanet_156604 |
Transient infantile hypertriglyceridemia and hepatosteatosis | http://www.orpha.net/ORDO/Orphanet_300293 | http://www.orpha.net/ORDO/Orphanet_156604 |
Acute infantile liver failure-multisystemic involvement syndrome | http://www.orpha.net/ORDO/Orphanet_370088 | http://www.orpha.net/ORDO/Orphanet_156604 |
Hereditary North American Indian childhood cirrhosis | http://www.orpha.net/ORDO/Orphanet_168583 | http://www.orpha.net/ORDO/Orphanet_156604 |
Isolated polycystic liver disease | http://www.orpha.net/ORDO/Orphanet_2924 | http://www.orpha.net/ORDO/Orphanet_156604 |
Growth retardation-mild developmental delay-chronic hepatitis syndrome | http://www.orpha.net/ORDO/Orphanet_391366 | http://www.orpha.net/ORDO/Orphanet_156604 |
Cholestasis-lymphedema syndrome | http://www.orpha.net/ORDO/Orphanet_1414 | http://www.orpha.net/ORDO/Orphanet_156604 |
Hyperbiliverdinemia | http://www.orpha.net/ORDO/Orphanet_276405 | http://www.orpha.net/ORDO/Orphanet_156601 |
Hepatic veno-occlusive disease - immunodeficiency | http://www.orpha.net/ORDO/Orphanet_79124 | http://www.orpha.net/ORDO/Orphanet_156601 |
hepatotoxicity | http://www.ebi.ac.uk/efo/EFO_0011052 | http://www.ebi.ac.uk/efo/EFO_0010284 |
gallbladder disease | http://www.ebi.ac.uk/efo/EFO_0003832 | http://www.ebi.ac.uk/efo/EFO_0010284 |
gallstones | http://www.ebi.ac.uk/efo/EFO_0004210 | http://www.ebi.ac.uk/efo/EFO_0003832 |
Cholecystitis, Acute | http://www.ebi.ac.uk/efo/EFO_1001289 | http://www.ebi.ac.uk/efo/EFO_0003832 |
cholelithiasis | http://www.ebi.ac.uk/efo/EFO_0004799 | http://www.ebi.ac.uk/efo/EFO_0003832 |
cholecystolithiasis | http://www.ebi.ac.uk/efo/EFO_1000864 | http://www.ebi.ac.uk/efo/EFO_0003832 |
biliary tract disease | http://www.ebi.ac.uk/efo/EFO_0009534 | http://www.ebi.ac.uk/efo/EFO_0010284 |
postcholecystectomy syndrome | http://www.ebi.ac.uk/efo/EFO_1001117 | http://www.ebi.ac.uk/efo/EFO_0009534 |
bile duct disorder | http://purl.obolibrary.org/obo/MONDO_0002887 | http://www.ebi.ac.uk/efo/EFO_0009534 |
cholestasis | http://purl.obolibrary.org/obo/MONDO_0001751 | http://purl.obolibrary.org/obo/MONDO_0002887 |
intrahepatic cholestasis | http://purl.obolibrary.org/obo/MONDO_0019072 | http://purl.obolibrary.org/obo/MONDO_0001751 |
common bile duct disorder | http://purl.obolibrary.org/obo/MONDO_0002886 | http://purl.obolibrary.org/obo/MONDO_0002887 |
bile reflux | http://www.ebi.ac.uk/efo/EFO_1000838 | http://www.ebi.ac.uk/efo/EFO_0009534 |
gastrointestinal ulceration, recurrent, with dysfunctional platelets | http://www.ebi.ac.uk/efo/EFO_0010263 | http://www.ebi.ac.uk/efo/EFO_0000405 |
gastric outlet obstruction | http://www.ebi.ac.uk/efo/EFO_1000947 | http://www.ebi.ac.uk/efo/EFO_0000405 |
metabolic disease | http://www.ebi.ac.uk/efo/EFO_0000589 | http://www.ebi.ac.uk/efo/EFO_0000408 |
carbohydrate metabolism disease | http://purl.obolibrary.org/obo/MONDO_0037792 | http://www.ebi.ac.uk/efo/EFO_0000589 |
glycerol metabolism disease | http://purl.obolibrary.org/obo/MONDO_0037807 | http://purl.obolibrary.org/obo/MONDO_0037792 |
inborn disorder of glycerol metabolism | http://purl.obolibrary.org/obo/MONDO_0019227 | http://purl.obolibrary.org/obo/MONDO_0037807 |
inborn glycerol kinase deficiency | http://purl.obolibrary.org/obo/MONDO_0010613 | http://purl.obolibrary.org/obo/MONDO_0019227 |
glycerol kinase deficiency, infantile form | http://purl.obolibrary.org/obo/MONDO_0017294 | http://purl.obolibrary.org/obo/MONDO_0010613 |
isolated glycerol kinase deficiency | http://purl.obolibrary.org/obo/MONDO_0018459 | http://purl.obolibrary.org/obo/MONDO_0010613 |
glycerol kinase deficiency, adult form | http://purl.obolibrary.org/obo/MONDO_0017296 | http://purl.obolibrary.org/obo/MONDO_0018459 |
glycerol kinase deficiency, juvenile form | http://purl.obolibrary.org/obo/MONDO_0017295 | http://purl.obolibrary.org/obo/MONDO_0018459 |
carbohydrate transport disease | http://purl.obolibrary.org/obo/MONDO_0045015 | http://purl.obolibrary.org/obo/MONDO_0037792 |
glucose transport disorder | http://purl.obolibrary.org/obo/MONDO_0019226 | http://purl.obolibrary.org/obo/MONDO_0045015 |
glycogen storage disease due to GLUT2 deficiency | http://purl.obolibrary.org/obo/MONDO_0009216 | http://purl.obolibrary.org/obo/MONDO_0019226 |
familial renal glucosuria | http://purl.obolibrary.org/obo/MONDO_0009297 | http://purl.obolibrary.org/obo/MONDO_0019226 |
inborn carbohydrate metabolic disorder | http://purl.obolibrary.org/obo/MONDO_0019214 | http://purl.obolibrary.org/obo/MONDO_0037792 |
disorder of galactose metabolism | http://purl.obolibrary.org/obo/MONDO_0017690 | http://purl.obolibrary.org/obo/MONDO_0019214 |
disorder of fructose metabolism | http://purl.obolibrary.org/obo/MONDO_0017689 | http://purl.obolibrary.org/obo/MONDO_0019214 |
fructose-1,6-bisphosphatase deficiency | http://purl.obolibrary.org/obo/MONDO_0009251 | http://purl.obolibrary.org/obo/MONDO_0017689 |
essential fructosuria | http://purl.obolibrary.org/obo/MONDO_0009252 | http://purl.obolibrary.org/obo/MONDO_0017689 |
disorder of glycolysis | http://purl.obolibrary.org/obo/MONDO_0017688 | http://purl.obolibrary.org/obo/MONDO_0019214 |
disorder of carbohydrate absorption and transport | http://purl.obolibrary.org/obo/MONDO_0017706 | http://purl.obolibrary.org/obo/MONDO_0019214 |
diarrhea-vomiting due to trehalase deficiency | http://purl.obolibrary.org/obo/MONDO_0012803 | http://purl.obolibrary.org/obo/MONDO_0017706 |
congenital lactase deficiency | http://purl.obolibrary.org/obo/MONDO_0009115 | http://purl.obolibrary.org/obo/MONDO_0017706 |
multiple carboxylase deficiency | http://purl.obolibrary.org/obo/MONDO_0015454 | http://purl.obolibrary.org/obo/MONDO_0019214 |
gluconeogenesis disorder | http://purl.obolibrary.org/obo/MONDO_0019225 | http://purl.obolibrary.org/obo/MONDO_0019214 |
pyruvate carboxylase deficiency disease | http://www.ebi.ac.uk/efo/EFO_1001142 | http://purl.obolibrary.org/obo/MONDO_0019225 |
Pyruvate carboxylase deficiency, benign type | http://www.orpha.net/ORDO/Orphanet_353320 | http://www.ebi.ac.uk/efo/EFO_1001142 |
Pyruvate carboxylase deficiency, severe neonatal type | http://www.orpha.net/ORDO/Orphanet_353314 | http://www.ebi.ac.uk/efo/EFO_1001142 |
Pyruvate carboxylase deficiency, infantile form | http://www.orpha.net/ORDO/Orphanet_353308 | http://www.ebi.ac.uk/efo/EFO_1001142 |
pyruvate carboxylase deficiency, infantile form | http://purl.obolibrary.org/obo/MONDO_0018141 | http://www.ebi.ac.uk/efo/EFO_1001142 |
pyruvate carboxylase deficiency, severe neonatal type | http://purl.obolibrary.org/obo/MONDO_0018142 | http://www.ebi.ac.uk/efo/EFO_1001142 |
pyruvate carboxylase deficiency, benign type | http://purl.obolibrary.org/obo/MONDO_0018143 | http://www.ebi.ac.uk/efo/EFO_1001142 |
phosphoenolpyruvate carboxykinase deficiency | http://purl.obolibrary.org/obo/MONDO_0017320 | http://purl.obolibrary.org/obo/MONDO_0019225 |
phosphoenolpyruvate carboxykinase deficiency, mitochondrial | http://purl.obolibrary.org/obo/MONDO_0009864 | http://purl.obolibrary.org/obo/MONDO_0017320 |
phosphoenolpyruvate carboxykinase deficiency, cytosolic | http://purl.obolibrary.org/obo/MONDO_0009866 | http://purl.obolibrary.org/obo/MONDO_0017320 |
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | http://purl.obolibrary.org/obo/MONDO_0014332 | http://purl.obolibrary.org/obo/MONDO_0019225 |
glycogen storage disease | http://purl.obolibrary.org/obo/MONDO_0002412 | http://purl.obolibrary.org/obo/MONDO_0019214 |
Glycogen Storage Disease Type 2b | http://www.ebi.ac.uk/efo/EFO_1001333 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease due to muscle beta-enolase deficiency | http://purl.obolibrary.org/obo/MONDO_0013046 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease XV | http://purl.obolibrary.org/obo/MONDO_0013291 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease due to phosphoglycerate mutase deficiency | http://purl.obolibrary.org/obo/MONDO_0009865 | http://purl.obolibrary.org/obo/MONDO_0002412 |
lethal congenital glycogen storage disease of heart | http://purl.obolibrary.org/obo/MONDO_0009867 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease IXb | http://purl.obolibrary.org/obo/MONDO_0009868 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease due to muscle and heart glycogen synthase deficiency | http://purl.obolibrary.org/obo/MONDO_0012693 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease II | http://purl.obolibrary.org/obo/MONDO_0009290 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease due to acid maltase deficiency, infantile onset | http://purl.obolibrary.org/obo/MONDO_0017694 | http://purl.obolibrary.org/obo/MONDO_0009290 |
glycogen storage disease due to acid maltase deficiency, late-onset | http://purl.obolibrary.org/obo/MONDO_0018485 | http://purl.obolibrary.org/obo/MONDO_0009290 |
glycogen storage disease III | http://purl.obolibrary.org/obo/MONDO_0009291 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease due to glycogen branching enzyme deficiency | http://purl.obolibrary.org/obo/MONDO_0009292 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | http://purl.obolibrary.org/obo/MONDO_0017698 | http://purl.obolibrary.org/obo/MONDO_0009292 |
glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | http://purl.obolibrary.org/obo/MONDO_0017697 | http://purl.obolibrary.org/obo/MONDO_0009292 |
glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | http://purl.obolibrary.org/obo/MONDO_0017696 | http://purl.obolibrary.org/obo/MONDO_0009292 |
glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | http://purl.obolibrary.org/obo/MONDO_0017695 | http://purl.obolibrary.org/obo/MONDO_0009292 |
glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | http://purl.obolibrary.org/obo/MONDO_0017699 | http://purl.obolibrary.org/obo/MONDO_0009292 |
glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | http://purl.obolibrary.org/obo/MONDO_0017701 | http://purl.obolibrary.org/obo/MONDO_0009292 |
glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | http://purl.obolibrary.org/obo/MONDO_0017700 | http://purl.obolibrary.org/obo/MONDO_0009292 |
glycogen storage disease V | http://purl.obolibrary.org/obo/MONDO_0009293 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease VI | http://purl.obolibrary.org/obo/MONDO_0009294 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disorder due to hepatic glycogen synthase deficiency | http://purl.obolibrary.org/obo/MONDO_0009414 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease IXd | http://purl.obolibrary.org/obo/MONDO_0010362 | http://purl.obolibrary.org/obo/MONDO_0002412 |
polyglucosan body myopathy 1 with or without immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0014389 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease I | http://purl.obolibrary.org/obo/MONDO_0002413 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease type 1 due to SLC37A4 mutation | http://purl.obolibrary.org/obo/MONDO_0023258 | http://purl.obolibrary.org/obo/MONDO_0002413 |
glycogen storage disease due to glucose-6-phosphatase deficiency type IA | http://purl.obolibrary.org/obo/MONDO_0009287 | http://purl.obolibrary.org/obo/MONDO_0002413 |
glycogen storage disease due to lactate dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0016527 | http://purl.obolibrary.org/obo/MONDO_0002412 |
glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | http://purl.obolibrary.org/obo/MONDO_0013047 | http://purl.obolibrary.org/obo/MONDO_0016527 |
glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | http://purl.obolibrary.org/obo/MONDO_0013587 | http://purl.obolibrary.org/obo/MONDO_0016527 |
disorders of pentose/polyol metabolism | http://purl.obolibrary.org/obo/MONDO_0018605 | http://purl.obolibrary.org/obo/MONDO_0019214 |
inborn disorder of pentose phosphate metabolism | http://purl.obolibrary.org/obo/MONDO_0019231 | http://purl.obolibrary.org/obo/MONDO_0018605 |
transaldolase deficiency | http://purl.obolibrary.org/obo/MONDO_0011624 | http://purl.obolibrary.org/obo/MONDO_0019231 |
pentosuria | http://purl.obolibrary.org/obo/MONDO_0009846 | http://purl.obolibrary.org/obo/MONDO_0018605 |
glucosephosphate dehydrogenase deficiency | http://www.ebi.ac.uk/efo/EFO_0007287 | http://purl.obolibrary.org/obo/MONDO_0019214 |
ascorbic acid deficiency | http://www.ebi.ac.uk/efo/EFO_1000822 | http://purl.obolibrary.org/obo/MONDO_0037792 |
hyperlipoproteinemia | http://purl.obolibrary.org/obo/MONDO_0037748 | http://www.ebi.ac.uk/efo/EFO_0000589 |
familial hypercholesterolemia | http://www.ebi.ac.uk/efo/EFO_0004911 | http://purl.obolibrary.org/obo/MONDO_0037748 |
hypercholesterolemia, autosomal dominant, 3 | http://purl.obolibrary.org/obo/MONDO_0011369 | http://www.ebi.ac.uk/efo/EFO_0004911 |
hypercholesterolemia, familial, 1 | http://purl.obolibrary.org/obo/MONDO_0007750 | http://www.ebi.ac.uk/efo/EFO_0004911 |
hypercholesterolemia, autosomal dominant, type B | http://purl.obolibrary.org/obo/MONDO_0007751 | http://www.ebi.ac.uk/efo/EFO_0004911 |
hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | http://purl.obolibrary.org/obo/MONDO_0016203 | http://www.ebi.ac.uk/efo/EFO_0004911 |
homozygous familial hypercholesterolemia | http://purl.obolibrary.org/obo/MONDO_0018328 | http://www.ebi.ac.uk/efo/EFO_0004911 |
hyperalphalipoproteinemia | http://purl.obolibrary.org/obo/MONDO_0015903 | http://purl.obolibrary.org/obo/MONDO_0037748 |
hyperlipidemia due to hepatic triglyceride lipase deficiency | http://purl.obolibrary.org/obo/MONDO_0013533 | http://purl.obolibrary.org/obo/MONDO_0015903 |
cholesterol-ester transfer protein deficiency | http://purl.obolibrary.org/obo/MONDO_0007744 | http://purl.obolibrary.org/obo/MONDO_0015903 |
familial lipoprotein lipase deficiency | http://purl.obolibrary.org/obo/MONDO_0009387 | http://purl.obolibrary.org/obo/MONDO_0037748 |
Hypertriglyceridemia | http://www.ebi.ac.uk/efo/EFO_0004211 | http://www.ebi.ac.uk/efo/EFO_0000589 |
hypertriglyceridemia, familial | http://purl.obolibrary.org/obo/MONDO_0007788 | http://www.ebi.ac.uk/efo/EFO_0004211 |
purine metabolism disease | http://purl.obolibrary.org/obo/MONDO_0037829 | http://www.ebi.ac.uk/efo/EFO_0000589 |
inborn disorder of purine metabolism | http://purl.obolibrary.org/obo/MONDO_0019236 | http://purl.obolibrary.org/obo/MONDO_0037829 |
adenine phosphoribosyltransferase deficiency | http://purl.obolibrary.org/obo/MONDO_0013869 | http://purl.obolibrary.org/obo/MONDO_0019236 |
familial juvenile hyperuricemic nephropathy type 1 | http://purl.obolibrary.org/obo/MONDO_0008073 | http://purl.obolibrary.org/obo/MONDO_0019236 |
purine nucleoside phosphorylase deficiency | http://purl.obolibrary.org/obo/MONDO_0013171 | http://purl.obolibrary.org/obo/MONDO_0019236 |
adenylosuccinate lyase deficiency | http://purl.obolibrary.org/obo/MONDO_0007068 | http://purl.obolibrary.org/obo/MONDO_0019236 |
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | http://purl.obolibrary.org/obo/MONDO_0007064 | http://purl.obolibrary.org/obo/MONDO_0019236 |
phosphoribosylpyrophosphate synthetase superactivity | http://purl.obolibrary.org/obo/MONDO_0010395 | http://purl.obolibrary.org/obo/MONDO_0019236 |
hereditary xanthinuria | http://purl.obolibrary.org/obo/MONDO_0018106 | http://purl.obolibrary.org/obo/MONDO_0019236 |
xanthinuria type II | http://purl.obolibrary.org/obo/MONDO_0011346 | http://purl.obolibrary.org/obo/MONDO_0018106 |
xanthinuria type I | http://purl.obolibrary.org/obo/MONDO_0010209 | http://purl.obolibrary.org/obo/MONDO_0018106 |
porphyrin metabolism disease | http://purl.obolibrary.org/obo/MONDO_0037821 | http://www.ebi.ac.uk/efo/EFO_0000589 |
porphyria | http://purl.obolibrary.org/obo/MONDO_0037939 | http://purl.obolibrary.org/obo/MONDO_0037821 |
inherited porphyria | http://purl.obolibrary.org/obo/MONDO_0019142 | http://purl.obolibrary.org/obo/MONDO_0037939 |
erythropoietic uroporphyria associated with myeloid malignancy | http://purl.obolibrary.org/obo/MONDO_0017231 | http://purl.obolibrary.org/obo/MONDO_0019142 |
inborn disorder of porphyrin metabolism | http://purl.obolibrary.org/obo/MONDO_0017754 | http://purl.obolibrary.org/obo/MONDO_0037821 |
heme oxygenase 1 deficiency | http://purl.obolibrary.org/obo/MONDO_0013536 | http://purl.obolibrary.org/obo/MONDO_0017754 |
inborn disorder of bilirubin metabolism | http://purl.obolibrary.org/obo/MONDO_0017755 | http://purl.obolibrary.org/obo/MONDO_0017754 |
hereditary hyperbilirubinemia | http://purl.obolibrary.org/obo/MONDO_0002408 | http://purl.obolibrary.org/obo/MONDO_0017755 |
Rotor syndrome | http://purl.obolibrary.org/obo/MONDO_0009379 | http://purl.obolibrary.org/obo/MONDO_0002408 |
pyrimidine metabolism disease | http://purl.obolibrary.org/obo/MONDO_0037937 | http://www.ebi.ac.uk/efo/EFO_0000589 |
inborn disorder of pyrimidine metabolism | http://purl.obolibrary.org/obo/MONDO_0019238 | http://purl.obolibrary.org/obo/MONDO_0037937 |
dihydropyrimidine dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0010130 | http://purl.obolibrary.org/obo/MONDO_0019238 |
dihydropyrimidinuria | http://purl.obolibrary.org/obo/MONDO_0009111 | http://purl.obolibrary.org/obo/MONDO_0019238 |
hyper-beta-alaninemia | http://purl.obolibrary.org/obo/MONDO_0009378 | http://purl.obolibrary.org/obo/MONDO_0019238 |
disorder of organic acid metabolism | http://purl.obolibrary.org/obo/MONDO_0045022 | http://www.ebi.ac.uk/efo/EFO_0000589 |
amino acid metabolism disease | http://purl.obolibrary.org/obo/MONDO_0037871 | http://purl.obolibrary.org/obo/MONDO_0045022 |
valine metabolism disease | http://purl.obolibrary.org/obo/MONDO_0037870 | http://purl.obolibrary.org/obo/MONDO_0037871 |
3-hydroxyisobutyric aciduria | http://purl.obolibrary.org/obo/MONDO_0009371 | http://purl.obolibrary.org/obo/MONDO_0037870 |
glycine metabolism disease | http://purl.obolibrary.org/obo/MONDO_0045020 | http://purl.obolibrary.org/obo/MONDO_0037871 |
sarcosinemia | http://purl.obolibrary.org/obo/MONDO_0010008 | http://purl.obolibrary.org/obo/MONDO_0045020 |
creatine biosynthetic process disease | http://purl.obolibrary.org/obo/MONDO_0045018 | http://purl.obolibrary.org/obo/MONDO_0037871 |
histidine metabolism disease | http://purl.obolibrary.org/obo/MONDO_0004738 | http://purl.obolibrary.org/obo/MONDO_0037871 |
inborn disorder of histidine metabolism | http://purl.obolibrary.org/obo/MONDO_0019228 | http://purl.obolibrary.org/obo/MONDO_0004738 |
histidinemia | http://purl.obolibrary.org/obo/MONDO_0009345 | http://purl.obolibrary.org/obo/MONDO_0019228 |
histidinuria due to a renal tubular defect | http://purl.obolibrary.org/obo/MONDO_0009346 | http://purl.obolibrary.org/obo/MONDO_0009345 |
inherited amino acid metabolic disorder | http://purl.obolibrary.org/obo/MONDO_0004736 | http://purl.obolibrary.org/obo/MONDO_0037871 |
inborn disorder of aspartate family metabolism | http://purl.obolibrary.org/obo/MONDO_0037938 | http://purl.obolibrary.org/obo/MONDO_0004736 |
inborn disorder of lysine and hydroxylysine metabolism | http://purl.obolibrary.org/obo/MONDO_0017351 | http://purl.obolibrary.org/obo/MONDO_0037938 |
saccharopinuria | http://purl.obolibrary.org/obo/MONDO_0010005 | http://purl.obolibrary.org/obo/MONDO_0017351 |
hyperlysinemia | http://purl.obolibrary.org/obo/MONDO_0009388 | http://purl.obolibrary.org/obo/MONDO_0017351 |
seizures-intellectual disability due to hydroxylysinuria syndrome | http://purl.obolibrary.org/obo/MONDO_0009373 | http://purl.obolibrary.org/obo/MONDO_0017351 |
2-aminoadipic 2-oxoadipic aciduria | http://purl.obolibrary.org/obo/MONDO_0008774 | http://purl.obolibrary.org/obo/MONDO_0017351 |
disorder of methionine catabolism | http://purl.obolibrary.org/obo/MONDO_0000351 | http://purl.obolibrary.org/obo/MONDO_0037938 |
glycine N-methyltransferase deficiency | http://purl.obolibrary.org/obo/MONDO_0011698 | http://purl.obolibrary.org/obo/MONDO_0000351 |
inborn disorder of tryptophan metabolism | http://purl.obolibrary.org/obo/MONDO_0017350 | http://purl.obolibrary.org/obo/MONDO_0004736 |
familial hypertryptophanemia | http://purl.obolibrary.org/obo/MONDO_0010907 | http://purl.obolibrary.org/obo/MONDO_0017350 |
inborn disorder of ornithine metabolism | http://purl.obolibrary.org/obo/MONDO_0017356 | http://purl.obolibrary.org/obo/MONDO_0004736 |
P5CS deficiency | http://purl.obolibrary.org/obo/MONDO_0100126 | http://purl.obolibrary.org/obo/MONDO_0017356 |
inborn disorder of proline metabolism | http://purl.obolibrary.org/obo/MONDO_0017355 | http://purl.obolibrary.org/obo/MONDO_0004736 |
hyperprolinemia | http://purl.obolibrary.org/obo/MONDO_0023419 | http://purl.obolibrary.org/obo/MONDO_0017355 |
disorder of phenylalanine metabolism | http://purl.obolibrary.org/obo/MONDO_0017306 | http://purl.obolibrary.org/obo/MONDO_0004736 |
tetrahydrobiopterin metabolic process disease | http://purl.obolibrary.org/obo/MONDO_0045014 | http://purl.obolibrary.org/obo/MONDO_0017306 |
dihydropteridine reductase deficiency | http://purl.obolibrary.org/obo/MONDO_0009862 | http://purl.obolibrary.org/obo/MONDO_0045014 |
GTP cyclohydrolase I deficiency | http://purl.obolibrary.org/obo/MONDO_0100184 | http://purl.obolibrary.org/obo/MONDO_0045014 |
GTP cyclohydrolase I deficiency with hyperphenylalaninemia | http://purl.obolibrary.org/obo/MONDO_0100186 | http://purl.obolibrary.org/obo/MONDO_0100184 |
disorder of tyrosine metabolism | http://purl.obolibrary.org/obo/MONDO_0017307 | http://purl.obolibrary.org/obo/MONDO_0004736 |
hawkinsinuria | http://purl.obolibrary.org/obo/MONDO_0007700 | http://purl.obolibrary.org/obo/MONDO_0017307 |
tyrosinemia | http://purl.obolibrary.org/obo/MONDO_0004741 | http://purl.obolibrary.org/obo/MONDO_0017307 |
tyrosinemia type III | http://purl.obolibrary.org/obo/MONDO_0010162 | http://purl.obolibrary.org/obo/MONDO_0004741 |
transient tyrosinemia of the newborn | http://purl.obolibrary.org/obo/MONDO_0018083 | http://purl.obolibrary.org/obo/MONDO_0017307 |
inborn disorder of branched-chain amino acid metabolism | http://purl.obolibrary.org/obo/MONDO_0019242 | http://purl.obolibrary.org/obo/MONDO_0004736 |
branched-chain keto acid dehydrogenase kinase deficiency | http://purl.obolibrary.org/obo/MONDO_0013970 | http://purl.obolibrary.org/obo/MONDO_0019242 |
methylmalonate semialdehyde dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0013579 | http://purl.obolibrary.org/obo/MONDO_0019242 |
maple syrup urine disease | http://purl.obolibrary.org/obo/MONDO_0009563 | http://purl.obolibrary.org/obo/MONDO_0019242 |
maple syrup urine disease type 1B | http://purl.obolibrary.org/obo/MONDO_0023692 | http://purl.obolibrary.org/obo/MONDO_0009563 |
maple syrup urine disease type 1A | http://purl.obolibrary.org/obo/MONDO_0023691 | http://purl.obolibrary.org/obo/MONDO_0009563 |
intermediate maple syrup urine disease | http://purl.obolibrary.org/obo/MONDO_0017052 | http://purl.obolibrary.org/obo/MONDO_0009563 |
classic maple syrup urine disease | http://purl.obolibrary.org/obo/MONDO_0017051 | http://purl.obolibrary.org/obo/MONDO_0009563 |
thiamine-responsive maple syrup urine disease | http://purl.obolibrary.org/obo/MONDO_0017054 | http://purl.obolibrary.org/obo/MONDO_0009563 |
intermittent maple syrup urine disease | http://purl.obolibrary.org/obo/MONDO_0017053 | http://purl.obolibrary.org/obo/MONDO_0009563 |
hypervalinemia and hyperleucine-isoleucinemia | http://purl.obolibrary.org/obo/MONDO_0100058 | http://purl.obolibrary.org/obo/MONDO_0019242 |
inborn disorder of serine family metabolism | http://purl.obolibrary.org/obo/MONDO_0019239 | http://purl.obolibrary.org/obo/MONDO_0004736 |
dimethylglycine dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0011610 | http://purl.obolibrary.org/obo/MONDO_0019239 |
trimethylaminuria | http://purl.obolibrary.org/obo/MONDO_0011182 | http://purl.obolibrary.org/obo/MONDO_0011610 |
inborn serine deficiency | http://purl.obolibrary.org/obo/MONDO_0000421 | http://purl.obolibrary.org/obo/MONDO_0019239 |
inborn disorder of gamma-aminobutyric acid metabolism | http://purl.obolibrary.org/obo/MONDO_0019224 | http://purl.obolibrary.org/obo/MONDO_0004736 |
gamma-amino butyric acid metabolism disorder | http://purl.obolibrary.org/obo/MONDO_0000698 | http://purl.obolibrary.org/obo/MONDO_0019224 |
homocarnosinosis | http://purl.obolibrary.org/obo/MONDO_0009351 | http://purl.obolibrary.org/obo/MONDO_0000698 |
carnosinemia | http://purl.obolibrary.org/obo/MONDO_0008921 | http://purl.obolibrary.org/obo/MONDO_0009351 |
lysinuric protein intolerance | http://purl.obolibrary.org/obo/MONDO_0009109 | http://purl.obolibrary.org/obo/MONDO_0004736 |
cystathioninuria | http://purl.obolibrary.org/obo/MONDO_0009058 | http://purl.obolibrary.org/obo/MONDO_0004736 |
dicarboxylic aminoaciduria | http://purl.obolibrary.org/obo/MONDO_0009110 | http://purl.obolibrary.org/obo/MONDO_0004736 |
urea cycle disorder | http://purl.obolibrary.org/obo/MONDO_0004739 | http://purl.obolibrary.org/obo/MONDO_0004736 |
citrullinemia | http://purl.obolibrary.org/obo/MONDO_0015991 | http://purl.obolibrary.org/obo/MONDO_0004739 |
citrin deficiency | http://purl.obolibrary.org/obo/MONDO_0016602 | http://purl.obolibrary.org/obo/MONDO_0015991 |
neonatal intrahepatic cholestasis due to citrin deficiency | http://purl.obolibrary.org/obo/MONDO_0011601 | http://purl.obolibrary.org/obo/MONDO_0016602 |
citrullinemia type II | http://purl.obolibrary.org/obo/MONDO_0016603 | http://purl.obolibrary.org/obo/MONDO_0016602 |
citrullinemia type I | http://purl.obolibrary.org/obo/MONDO_0008988 | http://purl.obolibrary.org/obo/MONDO_0015991 |
adult-onset citrullinemia type I | http://purl.obolibrary.org/obo/MONDO_0016601 | http://purl.obolibrary.org/obo/MONDO_0008988 |
hyperammonemia due to N-acetylglutamate synthase deficiency | http://purl.obolibrary.org/obo/MONDO_0009377 | http://purl.obolibrary.org/obo/MONDO_0004739 |
carbamoyl phosphate synthetase I deficiency disease | http://www.ebi.ac.uk/efo/EFO_0007193 | http://purl.obolibrary.org/obo/MONDO_0004739 |
hyperargininemia | http://purl.obolibrary.org/obo/MONDO_0008814 | http://purl.obolibrary.org/obo/MONDO_0004739 |
argininosuccinic aciduria | http://purl.obolibrary.org/obo/MONDO_0008815 | http://purl.obolibrary.org/obo/MONDO_0004739 |
homocystinuria | http://purl.obolibrary.org/obo/MONDO_0004737 | http://purl.obolibrary.org/obo/MONDO_0004736 |
albinism | http://purl.obolibrary.org/obo/MONDO_0043209 | http://purl.obolibrary.org/obo/MONDO_0004736 |
systemic primary carnitine deficiency disease | http://purl.obolibrary.org/obo/MONDO_0008919 | http://purl.obolibrary.org/obo/MONDO_0004736 |
biotin metabolic disease | http://purl.obolibrary.org/obo/MONDO_0020699 | http://purl.obolibrary.org/obo/MONDO_0045022 |
nutritional biotin deficiency | http://purl.obolibrary.org/obo/MONDO_0000461 | http://purl.obolibrary.org/obo/MONDO_0020699 |
inborn error of biotin metabolism | http://purl.obolibrary.org/obo/MONDO_0020698 | http://purl.obolibrary.org/obo/MONDO_0000461 |
inherited organic acidemia | http://purl.obolibrary.org/obo/MONDO_0000688 | http://purl.obolibrary.org/obo/MONDO_0045022 |
inherited fatty acid metabolism disorder | http://purl.obolibrary.org/obo/MONDO_0037858 | http://purl.obolibrary.org/obo/MONDO_0000688 |
disorder of fatty acid oxidation and ketogenesis | http://purl.obolibrary.org/obo/MONDO_0017713 | http://purl.obolibrary.org/obo/MONDO_0037858 |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency | http://purl.obolibrary.org/obo/MONDO_0011614 | http://purl.obolibrary.org/obo/MONDO_0017713 |
3-hydroxyacyl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0017715 | http://purl.obolibrary.org/obo/MONDO_0017713 |
acyl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0017714 | http://purl.obolibrary.org/obo/MONDO_0017713 |
transient neonatal multiple acyl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0018014 | http://purl.obolibrary.org/obo/MONDO_0017714 |
medium chain acyl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0008721 | http://purl.obolibrary.org/obo/MONDO_0017714 |
short chain acyl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0008722 | http://purl.obolibrary.org/obo/MONDO_0017714 |
Mitochondrial trifunctional protein deficiency | http://www.orpha.net/ORDO/Orphanet_746 | http://purl.obolibrary.org/obo/MONDO_0017713 |
long chain acyl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0020531 | http://purl.obolibrary.org/obo/MONDO_0017713 |
very long chain acyl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0008723 | http://purl.obolibrary.org/obo/MONDO_0020531 |
acyl-CoA dehydrogenase 9 deficiency | http://purl.obolibrary.org/obo/MONDO_0012624 | http://purl.obolibrary.org/obo/MONDO_0017713 |
3-hydroxy-3-methylglutaric aciduria | http://purl.obolibrary.org/obo/MONDO_0009520 | http://purl.obolibrary.org/obo/MONDO_0017713 |
Acyl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_309120 | http://purl.obolibrary.org/obo/MONDO_0017713 |
Transient neonatal multiple acyl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_329942 | http://www.orpha.net/ORDO/Orphanet_309120 |
Short chain acyl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_26792 | http://www.orpha.net/ORDO/Orphanet_309120 |
Very long chain acyl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_26793 | http://www.orpha.net/ORDO/Orphanet_309120 |
Multiple acyl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_26791 | http://www.orpha.net/ORDO/Orphanet_309120 |
Medium chain acyl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_42 | http://www.orpha.net/ORDO/Orphanet_309120 |
carnitine-acylcarnitine translocase deficiency | http://purl.obolibrary.org/obo/MONDO_0008918 | http://purl.obolibrary.org/obo/MONDO_0017713 |
carnitine palmitoyl transferase 1A deficiency | http://purl.obolibrary.org/obo/MONDO_0009705 | http://purl.obolibrary.org/obo/MONDO_0037858 |
inborn disorder of methionine cycle and sulfur amino acid metabolism | http://purl.obolibrary.org/obo/MONDO_0019222 | http://purl.obolibrary.org/obo/MONDO_0000688 |
classic organic aciduria | http://purl.obolibrary.org/obo/MONDO_0019215 | http://purl.obolibrary.org/obo/MONDO_0000688 |
propionic acidemia | http://purl.obolibrary.org/obo/MONDO_0011628 | http://purl.obolibrary.org/obo/MONDO_0019215 |
combined malonic and methylmalonic acidemia | http://purl.obolibrary.org/obo/MONDO_0013661 | http://purl.obolibrary.org/obo/MONDO_0019215 |
3-methylglutaconic aciduria | http://purl.obolibrary.org/obo/MONDO_0017359 | http://purl.obolibrary.org/obo/MONDO_0019215 |
Dilated cardiomyopathy with ataxia | http://www.orpha.net/ORDO/Orphanet_66634 | http://purl.obolibrary.org/obo/MONDO_0017359 |
3-methylglutaconic aciduria type 5 | http://purl.obolibrary.org/obo/MONDO_0012435 | http://purl.obolibrary.org/obo/MONDO_0017359 |
3-methylglutaconic aciduria type 1 | http://purl.obolibrary.org/obo/MONDO_0009610 | http://purl.obolibrary.org/obo/MONDO_0017359 |
3-methylglutaconic aciduria type 4 | http://purl.obolibrary.org/obo/MONDO_0009611 | http://purl.obolibrary.org/obo/MONDO_0017359 |
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | http://www.ebi.ac.uk/efo/EFO_0009014 | http://purl.obolibrary.org/obo/MONDO_0017359 |
vitamin B12-responsive methylmalonic acidemia | http://purl.obolibrary.org/obo/MONDO_0017214 | http://purl.obolibrary.org/obo/MONDO_0019215 |
vitamin B12-responsive methylmalonic acidemia, type cblDv2 | http://purl.obolibrary.org/obo/MONDO_0017685 | http://purl.obolibrary.org/obo/MONDO_0017214 |
vitamin B12-responsive methylmalonic acidemia type cblA | http://purl.obolibrary.org/obo/MONDO_0009613 | http://purl.obolibrary.org/obo/MONDO_0017214 |
vitamin B12-responsive methylmalonic acidemia type cblB | http://purl.obolibrary.org/obo/MONDO_0009614 | http://purl.obolibrary.org/obo/MONDO_0017214 |
isobutyryl-CoA dehydrogenase deficiency | http://purl.obolibrary.org/obo/MONDO_0012648 | http://purl.obolibrary.org/obo/MONDO_0019215 |
isovaleric acidemia | http://purl.obolibrary.org/obo/MONDO_0009475 | http://purl.obolibrary.org/obo/MONDO_0019215 |
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | http://purl.obolibrary.org/obo/MONDO_0009612 | http://purl.obolibrary.org/obo/MONDO_0019215 |
vitamin B12-unresponsive methylmalonic acidemia type mut0 | http://purl.obolibrary.org/obo/MONDO_0017360 | http://purl.obolibrary.org/obo/MONDO_0009612 |
vitamin B12-unresponsive methylmalonic acidemia type mut- | http://purl.obolibrary.org/obo/MONDO_0019267 | http://purl.obolibrary.org/obo/MONDO_0009612 |
Vitamin B12-unresponsive methylmalonic acidemia type mut0 | http://www.orpha.net/ORDO/Orphanet_289916 | http://purl.obolibrary.org/obo/MONDO_0009612 |
Vitamin B12-unresponsive methylmalonic acidemia type mut- | http://www.orpha.net/ORDO/Orphanet_79312 | http://purl.obolibrary.org/obo/MONDO_0009612 |
3-methylcrotonyl-CoA carboxylase deficiency | http://purl.obolibrary.org/obo/MONDO_0018950 | http://purl.obolibrary.org/obo/MONDO_0019215 |
beta-ketothiolase deficiency | http://purl.obolibrary.org/obo/MONDO_0008760 | http://purl.obolibrary.org/obo/MONDO_0019215 |
inborn disorder of bile acid synthesis | http://purl.obolibrary.org/obo/MONDO_0019218 | http://purl.obolibrary.org/obo/MONDO_0000688 |
bile acid CoA ligase deficiency and defective amidation | http://purl.obolibrary.org/obo/MONDO_0017165 | http://purl.obolibrary.org/obo/MONDO_0019218 |
hypercholanemia, familial | http://purl.obolibrary.org/obo/MONDO_0100327 | http://purl.obolibrary.org/obo/MONDO_0019218 |
hypercholanemia, familial 1 | http://purl.obolibrary.org/obo/MONDO_0031446 | http://purl.obolibrary.org/obo/MONDO_0100327 |
methylmalonic acidemia | http://purl.obolibrary.org/obo/MONDO_0002012 | http://purl.obolibrary.org/obo/MONDO_0000688 |
methylmalonic acidemia due to transcobalamin receptor defect | http://purl.obolibrary.org/obo/MONDO_0013341 | http://purl.obolibrary.org/obo/MONDO_0002012 |
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | http://purl.obolibrary.org/obo/MONDO_0009615 | http://purl.obolibrary.org/obo/MONDO_0002012 |
pyruvate metabolism disorder | http://purl.obolibrary.org/obo/MONDO_0016789 | http://purl.obolibrary.org/obo/MONDO_0000688 |
Pyruvate kinase hyperactivity | http://www.ebi.ac.uk/efo/EFO_0005840 | http://purl.obolibrary.org/obo/MONDO_0016789 |
steroid metabolism disease | http://purl.obolibrary.org/obo/MONDO_0045012 | http://www.ebi.ac.uk/efo/EFO_0000589 |
sterol metabolism disorder | http://purl.obolibrary.org/obo/MONDO_0019256 | http://purl.obolibrary.org/obo/MONDO_0045012 |
cholesterol metabolism disease | http://purl.obolibrary.org/obo/MONDO_0045008 | http://purl.obolibrary.org/obo/MONDO_0019256 |
cholesterol catabolic process disease | http://purl.obolibrary.org/obo/MONDO_0045016 | http://purl.obolibrary.org/obo/MONDO_0045008 |
recessive X-linked ichthyosis | http://purl.obolibrary.org/obo/MONDO_0010622 | http://purl.obolibrary.org/obo/MONDO_0019256 |
proteostasis deficiencies | http://purl.obolibrary.org/obo/MONDO_0021179 | http://www.ebi.ac.uk/efo/EFO_0000589 |
amyloidosis | http://www.ebi.ac.uk/efo/EFO_1001875 | http://purl.obolibrary.org/obo/MONDO_0021179 |
primary cutaneous amyloidosis | http://purl.obolibrary.org/obo/MONDO_0015301 | http://www.ebi.ac.uk/efo/EFO_1001875 |
amyloidosis cutis dyschromia | http://purl.obolibrary.org/obo/MONDO_0017906 | http://purl.obolibrary.org/obo/MONDO_0015301 |
familial primary localized cutaneous amyloidosis | http://purl.obolibrary.org/obo/MONDO_0007101 | http://purl.obolibrary.org/obo/MONDO_0015301 |
cutaneous nodular amyloidosis | http://www.ebi.ac.uk/efo/EFO_1001882 | http://purl.obolibrary.org/obo/MONDO_0015301 |
amyloidoma | http://www.ebi.ac.uk/efo/EFO_1001874 | http://www.ebi.ac.uk/efo/EFO_1001875 |
cardiac amyloidosis | http://www.ebi.ac.uk/efo/EFO_1001984 | http://www.ebi.ac.uk/efo/EFO_1001875 |
hereditary amyloidosis | http://purl.obolibrary.org/obo/MONDO_0018634 | http://www.ebi.ac.uk/efo/EFO_1001875 |
variant ABeta2M amyloidosis | http://purl.obolibrary.org/obo/MONDO_0017810 | http://purl.obolibrary.org/obo/MONDO_0018634 |
familial visceral amyloidosis | http://purl.obolibrary.org/obo/MONDO_0007099 | http://purl.obolibrary.org/obo/MONDO_0018634 |
ALys amyloidosis | http://purl.obolibrary.org/obo/MONDO_0019732 | http://purl.obolibrary.org/obo/MONDO_0007099 |
AFib amyloidosis | http://purl.obolibrary.org/obo/MONDO_0019733 | http://purl.obolibrary.org/obo/MONDO_0007099 |
AApoAI amyloidosis | http://purl.obolibrary.org/obo/MONDO_0019731 | http://purl.obolibrary.org/obo/MONDO_0007099 |
apolipoprotein A-II amyloidosis | http://purl.obolibrary.org/obo/MONDO_0016533 | http://purl.obolibrary.org/obo/MONDO_0007099 |
hereditary ATTR amyloidosis | http://purl.obolibrary.org/obo/MONDO_0017132 | http://purl.obolibrary.org/obo/MONDO_0018634 |
Familial transthyretin-related amyloidosis | http://www.orpha.net/ORDO/Orphanet_271861 | http://purl.obolibrary.org/obo/MONDO_0018634 |
ABeta2M amyloidosis | http://purl.obolibrary.org/obo/MONDO_0018590 | http://www.ebi.ac.uk/efo/EFO_1001875 |
ALECT2 amyloidosis | http://purl.obolibrary.org/obo/MONDO_0018588 | http://www.ebi.ac.uk/efo/EFO_1001875 |
hyperlipidemia | http://purl.obolibrary.org/obo/MONDO_0021187 | http://www.ebi.ac.uk/efo/EFO_0000589 |
major hypertriglyceridemia | http://purl.obolibrary.org/obo/MONDO_0015902 | http://purl.obolibrary.org/obo/MONDO_0021187 |
hyperlipoproteinemia type V | http://purl.obolibrary.org/obo/MONDO_0007762 | http://purl.obolibrary.org/obo/MONDO_0015902 |
familial chylomicronemia syndrome | http://purl.obolibrary.org/obo/MONDO_0018637 | http://purl.obolibrary.org/obo/MONDO_0015902 |
familial apolipoprotein C-II deficiency | http://purl.obolibrary.org/obo/MONDO_0008810 | http://purl.obolibrary.org/obo/MONDO_0018637 |
familial hyperlipidemia | http://purl.obolibrary.org/obo/MONDO_0001336 | http://purl.obolibrary.org/obo/MONDO_0021187 |
hyperlipoproteinemia type IV | http://purl.obolibrary.org/obo/MONDO_0007761 | http://purl.obolibrary.org/obo/MONDO_0001336 |
hyperlipoproteinemia type 3 | http://purl.obolibrary.org/obo/MONDO_0018473 | http://purl.obolibrary.org/obo/MONDO_0001336 |
postprandial hyperlipidemia | http://www.ebi.ac.uk/efo/EFO_0007632 | http://purl.obolibrary.org/obo/MONDO_0021187 |
Elevated 7-dehydrocholesterol | http://purl.obolibrary.org/obo/HP_0010569 | http://purl.obolibrary.org/obo/MONDO_0021187 |
hypoalphalipoproteinemia | http://purl.obolibrary.org/obo/MONDO_0017773 | http://www.ebi.ac.uk/efo/EFO_0000589 |
apolipoprotein A-I deficiency | http://purl.obolibrary.org/obo/MONDO_0100189 | http://purl.obolibrary.org/obo/MONDO_0017773 |
hypoalphalipoproteinemia, primary, 1 | http://purl.obolibrary.org/obo/MONDO_0011393 | http://purl.obolibrary.org/obo/MONDO_0100189 |
metabolic toxicity | http://www.ebi.ac.uk/efo/EFO_0011054 | http://www.ebi.ac.uk/efo/EFO_0000589 |
inborn errors of metabolism | http://purl.obolibrary.org/obo/MONDO_0019052 | http://www.ebi.ac.uk/efo/EFO_0000589 |
glycoprotein metabolism disease | http://purl.obolibrary.org/obo/MONDO_0045010 | http://purl.obolibrary.org/obo/MONDO_0019052 |
disorder of protein O-glycosylation | http://purl.obolibrary.org/obo/MONDO_0017741 | http://purl.obolibrary.org/obo/MONDO_0045010 |
disorder of O-xylosylglycan synthesis | http://purl.obolibrary.org/obo/MONDO_0017742 | http://purl.obolibrary.org/obo/MONDO_0017741 |
disorder of O-mannosylglycan synthesis | http://purl.obolibrary.org/obo/MONDO_0017745 | http://purl.obolibrary.org/obo/MONDO_0017741 |
disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis | http://purl.obolibrary.org/obo/MONDO_0017744 | http://purl.obolibrary.org/obo/MONDO_0017741 |
disorder of O-N-acetylgalactosaminylglycan synthesis | http://purl.obolibrary.org/obo/MONDO_0017743 | http://purl.obolibrary.org/obo/MONDO_0017741 |
disorder of fucoglycosan synthesis | http://purl.obolibrary.org/obo/MONDO_0017747 | http://purl.obolibrary.org/obo/MONDO_0017741 |
Dowling-Degos disease | http://purl.obolibrary.org/obo/MONDO_0008371 | http://purl.obolibrary.org/obo/MONDO_0017747 |
disorder of protein N-glycosylation | http://purl.obolibrary.org/obo/MONDO_0017740 | http://purl.obolibrary.org/obo/MONDO_0045010 |
PGM1-CDG | http://purl.obolibrary.org/obo/MONDO_0013968 | http://purl.obolibrary.org/obo/MONDO_0017740 |
autosomal dominant myoglobinuria | http://purl.obolibrary.org/obo/MONDO_0008046 | http://purl.obolibrary.org/obo/MONDO_0019052 |
hypotonia-failure to thrive-microcephaly syndrome | http://purl.obolibrary.org/obo/MONDO_0013539 | http://purl.obolibrary.org/obo/MONDO_0019052 |
disorder of metabolite absorption and transport | http://purl.obolibrary.org/obo/MONDO_0017757 | http://purl.obolibrary.org/obo/MONDO_0019052 |
disorder of mineral absorption and transport | http://purl.obolibrary.org/obo/MONDO_0017761 | http://purl.obolibrary.org/obo/MONDO_0017757 |
disorder of zinc metabolism | http://purl.obolibrary.org/obo/MONDO_0017764 | http://purl.obolibrary.org/obo/MONDO_0017761 |
recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome | http://purl.obolibrary.org/obo/MONDO_0016676 | http://purl.obolibrary.org/obo/MONDO_0017764 |
disorder of iron metabolism and transport | http://purl.obolibrary.org/obo/MONDO_0017763 | http://purl.obolibrary.org/obo/MONDO_0017761 |
hereditary hemochromatosis | http://purl.obolibrary.org/obo/MONDO_0006507 | http://purl.obolibrary.org/obo/MONDO_0017763 |
hemochromatosis type 3 | http://purl.obolibrary.org/obo/MONDO_0011417 | http://purl.obolibrary.org/obo/MONDO_0006507 |
hemochromatosis type 4 | http://purl.obolibrary.org/obo/MONDO_0011631 | http://purl.obolibrary.org/obo/MONDO_0006507 |
African iron overload | http://purl.obolibrary.org/obo/MONDO_0011012 | http://purl.obolibrary.org/obo/MONDO_0006507 |
hemochromatosis type 2 | http://purl.obolibrary.org/obo/MONDO_0019257 | http://purl.obolibrary.org/obo/MONDO_0006507 |
hemochromatosis type 2A | http://purl.obolibrary.org/obo/MONDO_0011216 | http://purl.obolibrary.org/obo/MONDO_0019257 |
hemochromatosis type 2B | http://purl.obolibrary.org/obo/MONDO_0013220 | http://purl.obolibrary.org/obo/MONDO_0019257 |
neonatal hemochromatosis | http://purl.obolibrary.org/obo/MONDO_0009275 | http://purl.obolibrary.org/obo/MONDO_0006507 |
hemochromatosis type 5 | http://purl.obolibrary.org/obo/MONDO_0014225 | http://purl.obolibrary.org/obo/MONDO_0006507 |
disorder of copper metabolism | http://purl.obolibrary.org/obo/MONDO_0017762 | http://purl.obolibrary.org/obo/MONDO_0017761 |
familial benign copper deficiency | http://purl.obolibrary.org/obo/MONDO_0007368 | http://purl.obolibrary.org/obo/MONDO_0017762 |
disorder of manganese transport | http://purl.obolibrary.org/obo/MONDO_0017766 | http://purl.obolibrary.org/obo/MONDO_0017761 |
disorder of magnesium transport | http://purl.obolibrary.org/obo/MONDO_0017765 | http://purl.obolibrary.org/obo/MONDO_0017761 |
familial primary hypomagnesemia | http://purl.obolibrary.org/obo/MONDO_0018100 | http://purl.obolibrary.org/obo/MONDO_0017765 |
familial primary hypomagnesemia with hypocalcuria | http://purl.obolibrary.org/obo/MONDO_0017625 | http://purl.obolibrary.org/obo/MONDO_0018100 |
renal hypomagnesemia 2 | http://purl.obolibrary.org/obo/MONDO_0007937 | http://purl.obolibrary.org/obo/MONDO_0017625 |
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis | http://purl.obolibrary.org/obo/MONDO_0017624 | http://purl.obolibrary.org/obo/MONDO_0018100 |
renal hypomagnesemia 3 | http://purl.obolibrary.org/obo/MONDO_0009550 | http://purl.obolibrary.org/obo/MONDO_0017624 |
familial primary hypomagnesemia with normocalcuria | http://purl.obolibrary.org/obo/MONDO_0017626 | http://purl.obolibrary.org/obo/MONDO_0018100 |
intestinal hypomagnesemia 1 | http://purl.obolibrary.org/obo/MONDO_0011176 | http://purl.obolibrary.org/obo/MONDO_0017626 |
isolated autosomal dominant hypomagnesemia, Glaudemans type | http://purl.obolibrary.org/obo/MONDO_0016048 | http://purl.obolibrary.org/obo/MONDO_0017626 |
familial primary hypomagnesemia with normocalciuria and normocalcemia | http://purl.obolibrary.org/obo/MONDO_0018101 | http://purl.obolibrary.org/obo/MONDO_0017626 |
disorder of vitamin and non-protein cofactor absorption and transport | http://purl.obolibrary.org/obo/MONDO_0017758 | http://purl.obolibrary.org/obo/MONDO_0017757 |
disorder of folate metabolism and transport | http://purl.obolibrary.org/obo/MONDO_0017313 | http://purl.obolibrary.org/obo/MONDO_0017758 |
disorder of thiamine metabolism and transport | http://purl.obolibrary.org/obo/MONDO_0017578 | http://purl.obolibrary.org/obo/MONDO_0017758 |
thiamine-responsive dysfunction syndrome | http://purl.obolibrary.org/obo/MONDO_0000152 | http://purl.obolibrary.org/obo/MONDO_0017578 |
childhood encephalopathy due to thiamine pyrophosphokinase deficiency | http://purl.obolibrary.org/obo/MONDO_0013761 | http://purl.obolibrary.org/obo/MONDO_0000152 |
disorder of other vitamins and cofactors metabolism and transport | http://purl.obolibrary.org/obo/MONDO_0017760 | http://purl.obolibrary.org/obo/MONDO_0017758 |
hereditary hypercarotenemia and vitamin A deficiency | http://purl.obolibrary.org/obo/MONDO_0007272 | http://purl.obolibrary.org/obo/MONDO_0017760 |
maternal riboflavin deficiency | http://purl.obolibrary.org/obo/MONDO_0014013 | http://purl.obolibrary.org/obo/MONDO_0017760 |
inborn disorder of cobalamin metabolism and transport | http://purl.obolibrary.org/obo/MONDO_0019220 | http://purl.obolibrary.org/obo/MONDO_0017758 |
methylmalonic aciduria and/or homocystinuria, cblD type | http://purl.obolibrary.org/obo/MONDO_0100463 | http://purl.obolibrary.org/obo/MONDO_0019220 |
transcobalamin I deficiency | http://purl.obolibrary.org/obo/MONDO_0008659 | http://purl.obolibrary.org/obo/MONDO_0019220 |
disorder of lysosomal-related organelles | http://purl.obolibrary.org/obo/MONDO_0017739 | http://purl.obolibrary.org/obo/MONDO_0019052 |
congenital disorder of glycosylation | http://purl.obolibrary.org/obo/MONDO_0015286 | http://purl.obolibrary.org/obo/MONDO_0019052 |
congenital disorder of glycosylation with defective fucosylation | http://purl.obolibrary.org/obo/MONDO_0060720 | http://purl.obolibrary.org/obo/MONDO_0015286 |
glycosylphosphatidylinositol biosynthesis defect 17 | http://purl.obolibrary.org/obo/MONDO_0060724 | http://purl.obolibrary.org/obo/MONDO_0015286 |
disorder of multiple glycosylation | http://purl.obolibrary.org/obo/MONDO_0017749 | http://purl.obolibrary.org/obo/MONDO_0015286 |
defect in V-ATPase | http://purl.obolibrary.org/obo/MONDO_0017752 | http://purl.obolibrary.org/obo/MONDO_0017749 |
defect in conserved oligomeric Golgi complex | http://purl.obolibrary.org/obo/MONDO_0017750 | http://purl.obolibrary.org/obo/MONDO_0017749 |
immunodeficiency 23 | http://purl.obolibrary.org/obo/MONDO_0014353 | http://purl.obolibrary.org/obo/MONDO_0017749 |
TMEM199-CDG | http://purl.obolibrary.org/obo/MONDO_0014790 | http://purl.obolibrary.org/obo/MONDO_0017749 |
CCDC115-CDG | http://purl.obolibrary.org/obo/MONDO_0014789 | http://purl.obolibrary.org/obo/MONDO_0017749 |
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation | http://purl.obolibrary.org/obo/MONDO_0017748 | http://purl.obolibrary.org/obo/MONDO_0015286 |
glycosylphosphatidylinositol biosynthesis defect 18 | http://purl.obolibrary.org/obo/MONDO_0029140 | http://purl.obolibrary.org/obo/MONDO_0015286 |
congenital disorder of glycosylation type I | http://www.ebi.ac.uk/efo/EFO_0005545 | http://purl.obolibrary.org/obo/MONDO_0015286 |
congenital disorder of glycosylation type II | http://www.ebi.ac.uk/efo/EFO_0005546 | http://purl.obolibrary.org/obo/MONDO_0015286 |
congenital disorder of glycosylation, type iit | http://purl.obolibrary.org/obo/MONDO_0030043 | http://www.ebi.ac.uk/efo/EFO_0005546 |
genetic lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0020087 | http://purl.obolibrary.org/obo/MONDO_0019052 |
Keppen-Lubinsky syndrome | http://purl.obolibrary.org/obo/MONDO_0013572 | http://purl.obolibrary.org/obo/MONDO_0020087 |
lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0015493 | http://purl.obolibrary.org/obo/MONDO_0020087 |
familial partial lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0020088 | http://purl.obolibrary.org/obo/MONDO_0020087 |
PPARG-related familial partial lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0011448 | http://purl.obolibrary.org/obo/MONDO_0020088 |
AKT2-related familial partial lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0019192 | http://purl.obolibrary.org/obo/MONDO_0020088 |
familial partial lipodystrophy, Kobberling type | http://purl.obolibrary.org/obo/MONDO_0012072 | http://purl.obolibrary.org/obo/MONDO_0020088 |
lipodystrophy due to peptidic growth factors deficiency | http://purl.obolibrary.org/obo/MONDO_0009312 | http://purl.obolibrary.org/obo/MONDO_0020087 |
congenital generalized lipodystrophy | http://www.ebi.ac.uk/efo/EFO_1000681 | http://purl.obolibrary.org/obo/MONDO_0020087 |
inborn disorder of biogenic amine metabolism and transport | http://purl.obolibrary.org/obo/MONDO_0019250 | http://purl.obolibrary.org/obo/MONDO_0019052 |
metabolic disease involving other neurotransmitter deficiency | http://purl.obolibrary.org/obo/MONDO_0019253 | http://purl.obolibrary.org/obo/MONDO_0019250 |
butyrylcholinesterase deficiency | http://purl.obolibrary.org/obo/MONDO_0015270 | http://purl.obolibrary.org/obo/MONDO_0019253 |
inborn disorder of pyridoxine metabolism | http://purl.obolibrary.org/obo/MONDO_0019237 | http://purl.obolibrary.org/obo/MONDO_0019250 |
inborn disorder of neurotransmitter metabolism and transport | http://purl.obolibrary.org/obo/MONDO_0019219 | http://purl.obolibrary.org/obo/MONDO_0019250 |
disorder of pterin metabolism | http://purl.obolibrary.org/obo/MONDO_0017756 | http://purl.obolibrary.org/obo/MONDO_0019219 |
hyperphenylalaninemia due to tetrahydrobiopterin deficiency | http://purl.obolibrary.org/obo/MONDO_0016543 | http://purl.obolibrary.org/obo/MONDO_0017756 |
BH4-deficient hyperphenylalaninemia A | http://purl.obolibrary.org/obo/MONDO_0009863 | http://purl.obolibrary.org/obo/MONDO_0016543 |
pterin-4 alpha-carbinolamine dehydratase 1 deficiency | http://purl.obolibrary.org/obo/MONDO_0009908 | http://purl.obolibrary.org/obo/MONDO_0016543 |
disorder of catecholamine synthesis | http://purl.obolibrary.org/obo/MONDO_0017759 | http://purl.obolibrary.org/obo/MONDO_0019219 |
brain dopamine-serotonin vesicular transport disease | http://purl.obolibrary.org/obo/MONDO_0018130 | http://purl.obolibrary.org/obo/MONDO_0019219 |
inborn disorder of purine or pyrimidine metabolism | http://purl.obolibrary.org/obo/MONDO_0019254 | http://purl.obolibrary.org/obo/MONDO_0019052 |
inborn disorder of energy metabolism | http://purl.obolibrary.org/obo/MONDO_0019243 | http://purl.obolibrary.org/obo/MONDO_0019052 |
inborn disorder of fatty acid oxidation and ketone body metabolism | http://purl.obolibrary.org/obo/MONDO_0019223 | http://purl.obolibrary.org/obo/MONDO_0019243 |
disorder of carnitine cycle and carnitine transport | http://purl.obolibrary.org/obo/MONDO_0017716 | http://purl.obolibrary.org/obo/MONDO_0019223 |
carnitine palmitoyltransferase II deficiency | http://purl.obolibrary.org/obo/MONDO_0015515 | http://purl.obolibrary.org/obo/MONDO_0017716 |
carnitine palmitoyl transferase II deficiency, myopathic form | http://purl.obolibrary.org/obo/MONDO_0009704 | http://purl.obolibrary.org/obo/MONDO_0015515 |
carnitine palmitoyl transferase II deficiency, severe infantile form | http://purl.obolibrary.org/obo/MONDO_0010914 | http://purl.obolibrary.org/obo/MONDO_0015515 |
carnitine palmitoyl transferase II deficiency, neonatal form | http://purl.obolibrary.org/obo/MONDO_0012136 | http://purl.obolibrary.org/obo/MONDO_0015515 |
inborn disorder of ketolysis | http://purl.obolibrary.org/obo/MONDO_0019229 | http://purl.obolibrary.org/obo/MONDO_0019223 |
succinyl-CoA:3-ketoacid CoA transferase deficiency | http://purl.obolibrary.org/obo/MONDO_0009492 | http://purl.obolibrary.org/obo/MONDO_0019229 |
tricarboxylic acid cycle disorder | http://purl.obolibrary.org/obo/MONDO_0016790 | http://purl.obolibrary.org/obo/MONDO_0019243 |
inborn metal metabolism disorder | http://purl.obolibrary.org/obo/MONDO_0004689 | http://purl.obolibrary.org/obo/MONDO_0019052 |
familial periodic paralysis | http://purl.obolibrary.org/obo/MONDO_0000995 | http://purl.obolibrary.org/obo/MONDO_0004689 |
hypokalemic periodic paralysis | http://purl.obolibrary.org/obo/MONDO_0008223 | http://purl.obolibrary.org/obo/MONDO_0000995 |
hypokalemic periodic paralysis, type 1 | http://purl.obolibrary.org/obo/MONDO_0042979 | http://purl.obolibrary.org/obo/MONDO_0008223 |
hyperkalemic periodic paralysis | http://purl.obolibrary.org/obo/MONDO_0008224 | http://purl.obolibrary.org/obo/MONDO_0000995 |
thyrotoxic periodic paralysis | http://purl.obolibrary.org/obo/MONDO_0019201 | http://purl.obolibrary.org/obo/MONDO_0000995 |
thyrotoxic periodic paralysis, susceptibility to, 1 | http://purl.obolibrary.org/obo/MONDO_0008570 | http://purl.obolibrary.org/obo/MONDO_0019201 |
mucopolysaccharidosis or mucopolysaccharidosis-like disorder | http://purl.obolibrary.org/obo/MONDO_0100365 | http://purl.obolibrary.org/obo/MONDO_0019052 |
ariboflavinosis | http://purl.obolibrary.org/obo/MONDO_0004573 | http://purl.obolibrary.org/obo/MONDO_0019052 |
thiopurine metabolic disease | http://purl.obolibrary.org/obo/MONDO_0000210 | http://purl.obolibrary.org/obo/MONDO_0019052 |
thiopurine S-methyltransferase deficiency | http://purl.obolibrary.org/obo/MONDO_0012503 | http://purl.obolibrary.org/obo/MONDO_0000210 |
hypermanganesemia with dystonia | http://purl.obolibrary.org/obo/MONDO_0000214 | http://purl.obolibrary.org/obo/MONDO_0019052 |
inherited lipid metabolism disorder | http://purl.obolibrary.org/obo/MONDO_0002525 | http://purl.obolibrary.org/obo/MONDO_0019052 |
hypolipoproteinemia | http://purl.obolibrary.org/obo/MONDO_0001822 | http://purl.obolibrary.org/obo/MONDO_0002525 |
hypobetalipoproteinemia | http://purl.obolibrary.org/obo/MONDO_0017774 | http://purl.obolibrary.org/obo/MONDO_0001822 |
familial hypobetalipoproteinemia 1 | http://purl.obolibrary.org/obo/MONDO_0014252 | http://purl.obolibrary.org/obo/MONDO_0017774 |
lysosomal lipid storage disorder | http://purl.obolibrary.org/obo/MONDO_0019245 | http://purl.obolibrary.org/obo/MONDO_0002525 |
neutral lipid storage disease | http://purl.obolibrary.org/obo/MONDO_0015611 | http://purl.obolibrary.org/obo/MONDO_0019245 |
neutral lipid storage myopathy | http://purl.obolibrary.org/obo/MONDO_0012545 | http://purl.obolibrary.org/obo/MONDO_0015611 |
sphingolipidosis | http://purl.obolibrary.org/obo/MONDO_0019255 | http://purl.obolibrary.org/obo/MONDO_0019245 |
Niemann-Pick disease | http://www.ebi.ac.uk/efo/EFO_1001380 | http://purl.obolibrary.org/obo/MONDO_0019255 |
Niemann-Pick disease type E | http://purl.obolibrary.org/obo/MONDO_0020384 | http://www.ebi.ac.uk/efo/EFO_1001380 |
Niemann-Pick disease type C | http://purl.obolibrary.org/obo/MONDO_0018982 | http://www.ebi.ac.uk/efo/EFO_1001380 |
Niemann-Pick disease type C, adult neurologic onset | http://purl.obolibrary.org/obo/MONDO_0016310 | http://purl.obolibrary.org/obo/MONDO_0018982 |
Niemann-Pick disease type C, juvenile neurologic onset | http://purl.obolibrary.org/obo/MONDO_0016309 | http://purl.obolibrary.org/obo/MONDO_0018982 |
Niemann-Pick disease type C, late infantile neurologic onset | http://purl.obolibrary.org/obo/MONDO_0016308 | http://purl.obolibrary.org/obo/MONDO_0018982 |
Niemann-Pick disease type C, severe early infantile neurologic onset | http://purl.obolibrary.org/obo/MONDO_0016307 | http://purl.obolibrary.org/obo/MONDO_0018982 |
Niemann-Pick disease type C, severe perinatal form | http://purl.obolibrary.org/obo/MONDO_0016306 | http://purl.obolibrary.org/obo/MONDO_0018982 |
gangliosidosis | http://purl.obolibrary.org/obo/MONDO_0017719 | http://purl.obolibrary.org/obo/MONDO_0019255 |
xanthomatosis | http://purl.obolibrary.org/obo/MONDO_0002615 | http://purl.obolibrary.org/obo/MONDO_0019245 |
steroid inherited metabolic disorder | http://www.ebi.ac.uk/efo/EFO_0005590 | http://purl.obolibrary.org/obo/MONDO_0002525 |
lipoid proteinosis | http://purl.obolibrary.org/obo/MONDO_0009530 | http://purl.obolibrary.org/obo/MONDO_0002525 |
disorder of phospholipids, sphingolipids and fatty acids biosynthesis | http://purl.obolibrary.org/obo/MONDO_0018117 | http://purl.obolibrary.org/obo/MONDO_0002525 |
lysosomal storage disease | http://purl.obolibrary.org/obo/MONDO_0002561 | http://purl.obolibrary.org/obo/MONDO_0019052 |
glycoproteinosis | http://purl.obolibrary.org/obo/MONDO_0017731 | http://purl.obolibrary.org/obo/MONDO_0002561 |
lysosomal glycogen storage disease | http://purl.obolibrary.org/obo/MONDO_0017738 | http://purl.obolibrary.org/obo/MONDO_0002561 |
disorder of sialic acid metabolism | http://purl.obolibrary.org/obo/MONDO_0017736 | http://purl.obolibrary.org/obo/MONDO_0002561 |
inborn disorder of lysosomal amino acid transport | http://purl.obolibrary.org/obo/MONDO_0019246 | http://purl.obolibrary.org/obo/MONDO_0002561 |
cystinosis | http://purl.obolibrary.org/obo/MONDO_0016239 | http://purl.obolibrary.org/obo/MONDO_0019246 |
lysosomal acid phosphatase deficiency | http://purl.obolibrary.org/obo/MONDO_0008705 | http://purl.obolibrary.org/obo/MONDO_0002561 |
plasma protein metabolism disease | http://purl.obolibrary.org/obo/MONDO_0002273 | http://purl.obolibrary.org/obo/MONDO_0019052 |
macroglobulinemia | http://www.ebi.ac.uk/efo/EFO_0002616 | http://purl.obolibrary.org/obo/MONDO_0002273 |
malonic aciduria | http://purl.obolibrary.org/obo/MONDO_0009556 | http://purl.obolibrary.org/obo/MONDO_0019052 |
glutaric acidemia type 3 | http://purl.obolibrary.org/obo/MONDO_0009283 | http://purl.obolibrary.org/obo/MONDO_0019052 |
D-glyceric aciduria | http://purl.obolibrary.org/obo/MONDO_0009070 | http://purl.obolibrary.org/obo/MONDO_0019052 |
vitamin metabolic disorder | http://www.ebi.ac.uk/efo/EFO_0005596 | http://purl.obolibrary.org/obo/MONDO_0019052 |
Disorder of thiamine metabolism and transport | http://www.orpha.net/ORDO/Orphanet_298644 | http://www.ebi.ac.uk/efo/EFO_0005596 |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | http://www.orpha.net/ORDO/Orphanet_293955 | http://www.orpha.net/ORDO/Orphanet_298644 |
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease | http://www.orpha.net/ORDO/Orphanet_263410 | http://www.orpha.net/ORDO/Orphanet_298644 |
Thiamine-responsive encephalopathy | http://www.orpha.net/ORDO/Orphanet_199348 | http://www.orpha.net/ORDO/Orphanet_298644 |
inborn vitamin B12 deficiency | http://purl.obolibrary.org/obo/MONDO_0000424 | http://www.ebi.ac.uk/efo/EFO_0005596 |
Hereditary hypercarotenemia and vitamin A deficiency | http://www.orpha.net/ORDO/Orphanet_199285 | http://www.ebi.ac.uk/efo/EFO_0005596 |
Biotinidase deficiency | http://www.orpha.net/ORDO/Orphanet_79241 | http://www.ebi.ac.uk/efo/EFO_0005596 |
Disorder of cobalamin metabolism and transport | http://www.orpha.net/ORDO/Orphanet_79171 | http://www.ebi.ac.uk/efo/EFO_0005596 |
Methylmalonic aciduria due to transcobalamin receptor defect | http://www.orpha.net/ORDO/Orphanet_280183 | http://www.orpha.net/ORDO/Orphanet_79171 |
Vitamin B12-responsive methylmalonic acidemia | http://www.orpha.net/ORDO/Orphanet_28 | http://www.orpha.net/ORDO/Orphanet_79171 |
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | http://www.orpha.net/ORDO/Orphanet_308442 | http://www.orpha.net/ORDO/Orphanet_28 |
Vitamin B12-responsive methylmalonic acidemia type cblA | http://www.orpha.net/ORDO/Orphanet_79310 | http://www.orpha.net/ORDO/Orphanet_28 |
Vitamin B12-responsive methylmalonic acidemia type cblB | http://www.orpha.net/ORDO/Orphanet_79311 | http://www.orpha.net/ORDO/Orphanet_28 |
Inborn errors of metabolism | http://www.orpha.net/ORDO/Orphanet_68367 | http://purl.obolibrary.org/obo/MONDO_0019052 |
Other metabolic disease | http://www.orpha.net/ORDO/Orphanet_91088 | http://www.orpha.net/ORDO/Orphanet_68367 |
Alacrimia-choreoathetosis-liver dysfunction syndrome | http://www.orpha.net/ORDO/Orphanet_404454 | http://www.orpha.net/ORDO/Orphanet_91088 |
Autosomal dominant myoglobinuria | http://www.orpha.net/ORDO/Orphanet_99846 | http://www.orpha.net/ORDO/Orphanet_91088 |
Genetic recurrent myoglobinuria | http://www.orpha.net/ORDO/Orphanet_99845 | http://www.orpha.net/ORDO/Orphanet_91088 |
Hypotonia - failure to thrive - microcephaly | http://www.orpha.net/ORDO/Orphanet_79507 | http://www.orpha.net/ORDO/Orphanet_91088 |
Lysosomal disease | http://www.orpha.net/ORDO/Orphanet_68366 | http://www.orpha.net/ORDO/Orphanet_68367 |
Acid phosphatase deficiency | http://www.orpha.net/ORDO/Orphanet_35121 | http://www.orpha.net/ORDO/Orphanet_68366 |
Pycnodysostosis | http://www.orpha.net/ORDO/Orphanet_763 | http://www.orpha.net/ORDO/Orphanet_68366 |
Glycoproteinosis | http://www.orpha.net/ORDO/Orphanet_309279 | http://www.orpha.net/ORDO/Orphanet_68366 |
Mucolipidosis | http://www.orpha.net/ORDO/Orphanet_79212 | http://www.orpha.net/ORDO/Orphanet_309279 |
Mucolipidosis type III | http://www.orpha.net/ORDO/Orphanet_577 | http://www.orpha.net/ORDO/Orphanet_79212 |
Oligosaccharidosis | http://www.orpha.net/ORDO/Orphanet_79215 | http://www.orpha.net/ORDO/Orphanet_309279 |
Fucosidosis | http://www.orpha.net/ORDO/Orphanet_349 | http://www.orpha.net/ORDO/Orphanet_79215 |
Beta-mannosidosis | http://www.orpha.net/ORDO/Orphanet_118 | http://www.orpha.net/ORDO/Orphanet_79215 |
Alpha-N-acetylgalactosaminidase deficiency | http://www.orpha.net/ORDO/Orphanet_3137 | http://www.orpha.net/ORDO/Orphanet_79215 |
Alpha-N-acetylgalactosaminidase deficiency type 2 | http://www.orpha.net/ORDO/Orphanet_79280 | http://www.orpha.net/ORDO/Orphanet_3137 |
Alpha-N-acetylgalactosaminidase deficiency type 3 | http://www.orpha.net/ORDO/Orphanet_79281 | http://www.orpha.net/ORDO/Orphanet_3137 |
Alpha-N-acetylgalactosaminidase deficiency type 1 | http://www.orpha.net/ORDO/Orphanet_79279 | http://www.orpha.net/ORDO/Orphanet_3137 |
Aspartylglucosaminuria | http://www.orpha.net/ORDO/Orphanet_93 | http://www.orpha.net/ORDO/Orphanet_79215 |
Lysosomal glycogen storage disease | http://www.orpha.net/ORDO/Orphanet_309337 | http://www.orpha.net/ORDO/Orphanet_68366 |
Glycogen storage disease due to acid maltase deficiency | http://www.orpha.net/ORDO/Orphanet_365 | http://www.orpha.net/ORDO/Orphanet_309337 |
Glycogen storage disease due to acid maltase deficiency, adult onset | http://www.orpha.net/ORDO/Orphanet_308604 | http://www.orpha.net/ORDO/Orphanet_365 |
Glycogen storage disease due to acid maltase deficiency, infantile onset | http://www.orpha.net/ORDO/Orphanet_308552 | http://www.orpha.net/ORDO/Orphanet_365 |
Glycogen storage disease due to acid maltase deficiency, juvenile onset | http://www.orpha.net/ORDO/Orphanet_308573 | http://www.orpha.net/ORDO/Orphanet_365 |
Disorder of sialic acid metabolism | http://www.orpha.net/ORDO/Orphanet_309319 | http://www.orpha.net/ORDO/Orphanet_68366 |
Sialuria | http://www.orpha.net/ORDO/Orphanet_3166 | http://www.orpha.net/ORDO/Orphanet_309319 |
Lipid storage disease | http://www.orpha.net/ORDO/Orphanet_79204 | http://www.orpha.net/ORDO/Orphanet_68366 |
Sphingolipidosis | http://www.orpha.net/ORDO/Orphanet_79225 | http://www.orpha.net/ORDO/Orphanet_79204 |
Encephalopathy due to prosaposin deficiency | http://www.orpha.net/ORDO/Orphanet_139406 | http://www.orpha.net/ORDO/Orphanet_79225 |
Multiple sulfatase deficiency | http://www.orpha.net/ORDO/Orphanet_585 | http://www.orpha.net/ORDO/Orphanet_79225 |
Sea-blue histiocytosis | http://www.orpha.net/ORDO/Orphanet_158029 | http://www.orpha.net/ORDO/Orphanet_79225 |
Gangliosidosis | http://www.orpha.net/ORDO/Orphanet_309144 | http://www.orpha.net/ORDO/Orphanet_79225 |
Disorder of lysosomal amino acid transport | http://www.orpha.net/ORDO/Orphanet_79207 | http://www.orpha.net/ORDO/Orphanet_68366 |
Free sialic acid storage disease | http://www.orpha.net/ORDO/Orphanet_834 | http://www.orpha.net/ORDO/Orphanet_79207 |
Intermediate severe Salla disease | http://www.orpha.net/ORDO/Orphanet_309331 | http://www.orpha.net/ORDO/Orphanet_834 |
Free sialic acid storage disease, infantile form | http://www.orpha.net/ORDO/Orphanet_309324 | http://www.orpha.net/ORDO/Orphanet_834 |
Peroxisomal disease | http://www.orpha.net/ORDO/Orphanet_68373 | http://www.orpha.net/ORDO/Orphanet_68367 |
Glutaric acidemia type 3 | http://www.orpha.net/ORDO/Orphanet_35706 | http://www.orpha.net/ORDO/Orphanet_68373 |
peroxisome biogenesis disorder, complementation group 7 | http://www.ebi.ac.uk/efo/EFO_0010956 | http://www.orpha.net/ORDO/Orphanet_68373 |
Peroxisomal beta-oxidation disorder | http://www.orpha.net/ORDO/Orphanet_79188 | http://www.orpha.net/ORDO/Orphanet_68373 |
Peroxisomal acyl-CoA oxidase deficiency | http://www.orpha.net/ORDO/Orphanet_2971 | http://www.orpha.net/ORDO/Orphanet_79188 |
Leukoencephalopathy - dystonia - motor neuropathy | http://www.orpha.net/ORDO/Orphanet_163684 | http://www.orpha.net/ORDO/Orphanet_79188 |
Congenital disorder of glycosylation | http://www.orpha.net/ORDO/Orphanet_137 | http://www.orpha.net/ORDO/Orphanet_68367 |
Disorder of protein O-glycosylation | http://www.orpha.net/ORDO/Orphanet_309447 | http://www.orpha.net/ORDO/Orphanet_137 |
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis | http://www.orpha.net/ORDO/Orphanet_309463 | http://www.orpha.net/ORDO/Orphanet_309447 |
Schneckenbecken dysplasia | http://www.orpha.net/ORDO/Orphanet_3144 | http://www.orpha.net/ORDO/Orphanet_309463 |
Disorder of O-N-acetylgalactosaminylglycan synthesis | http://www.orpha.net/ORDO/Orphanet_309458 | http://www.orpha.net/ORDO/Orphanet_309447 |
Disorder of O-xylosylglycan synthesis | http://www.orpha.net/ORDO/Orphanet_309450 | http://www.orpha.net/ORDO/Orphanet_309447 |
Spondyloepimetaphyseal dysplasia with joint laxity | http://www.orpha.net/ORDO/Orphanet_93359 | http://www.orpha.net/ORDO/Orphanet_309450 |
CHST3-related skeletal dysplasia | http://www.orpha.net/ORDO/Orphanet_263463 | http://www.orpha.net/ORDO/Orphanet_309450 |
Disorder of O-mannosylglycan synthesis | http://www.orpha.net/ORDO/Orphanet_309469 | http://www.orpha.net/ORDO/Orphanet_309447 |
Autosomal recessive limb-girdle muscular dystrophy type 2K | http://www.orpha.net/ORDO/Orphanet_86812 | http://www.orpha.net/ORDO/Orphanet_309469 |
Autosomal recessive limb-girdle muscular dystrophy type 2T | http://www.orpha.net/ORDO/Orphanet_363623 | http://www.orpha.net/ORDO/Orphanet_309469 |
Autosomal recessive limb-girdle muscular dystrophy type 2O | http://www.orpha.net/ORDO/Orphanet_206564 | http://www.orpha.net/ORDO/Orphanet_309469 |
Autosomal recessive limb-girdle muscular dystrophy type 2M | http://www.orpha.net/ORDO/Orphanet_206554 | http://www.orpha.net/ORDO/Orphanet_309469 |
Autosomal recessive limb-girdle muscular dystrophy type 2N | http://www.orpha.net/ORDO/Orphanet_206559 | http://www.orpha.net/ORDO/Orphanet_309469 |
Autosomal recessive limb-girdle muscular dystrophy type 2I | http://www.orpha.net/ORDO/Orphanet_34515 | http://www.orpha.net/ORDO/Orphanet_309469 |
Congenital muscular dystrophy without intellectual disability | http://www.orpha.net/ORDO/Orphanet_370980 | http://www.orpha.net/ORDO/Orphanet_309469 |
Congenital muscular dystrophy with cerebellar involvement | http://www.orpha.net/ORDO/Orphanet_370959 | http://www.orpha.net/ORDO/Orphanet_309469 |
Congenital muscular dystrophy with intellectual disability | http://www.orpha.net/ORDO/Orphanet_370968 | http://www.orpha.net/ORDO/Orphanet_309469 |
muscular dystrophy, congenital, with cataracts and intellectual disability | http://www.ebi.ac.uk/efo/EFO_0009149 | http://www.orpha.net/ORDO/Orphanet_370968 |
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency | http://www.orpha.net/ORDO/Orphanet_352479 | http://www.orpha.net/ORDO/Orphanet_309469 |
Disorder of fucoglycosan synthesis | http://www.orpha.net/ORDO/Orphanet_309505 | http://www.orpha.net/ORDO/Orphanet_309447 |
Autosomal recessive spondylocostal dysostosis | http://www.orpha.net/ORDO/Orphanet_2311 | http://www.orpha.net/ORDO/Orphanet_309505 |
Disorder of protein N-glycosylation | http://www.orpha.net/ORDO/Orphanet_309347 | http://www.orpha.net/ORDO/Orphanet_137 |
Autism spectrum disorder-epilepsy-arthrogryposis syndrome | http://www.orpha.net/ORDO/Orphanet_370943 | http://www.orpha.net/ORDO/Orphanet_309347 |
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation | http://www.orpha.net/ORDO/Orphanet_309515 | http://www.orpha.net/ORDO/Orphanet_137 |
Multiple congenital anomalies - hypotonia - seizures syndrome | http://www.orpha.net/ORDO/Orphanet_280633 | http://www.orpha.net/ORDO/Orphanet_309515 |
Hyperphosphatasia-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_247262 | http://www.orpha.net/ORDO/Orphanet_309515 |
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | http://www.orpha.net/ORDO/Orphanet_300496 | http://www.orpha.net/ORDO/Orphanet_309515 |
Disorder of multiple glycosylation | http://www.orpha.net/ORDO/Orphanet_309526 | http://www.orpha.net/ORDO/Orphanet_137 |
Distal myopathy, Nonaka type | http://www.orpha.net/ORDO/Orphanet_602 | http://www.orpha.net/ORDO/Orphanet_309526 |
Leukocyte adhesion deficiency type II | http://www.orpha.net/ORDO/Orphanet_99843 | http://www.orpha.net/ORDO/Orphanet_309526 |
Defect in conserved oligomeric Golgi complex | http://www.orpha.net/ORDO/Orphanet_309568 | http://www.orpha.net/ORDO/Orphanet_309526 |
DPM1-CDG | http://www.orpha.net/ORDO/Orphanet_79322 | http://www.orpha.net/ORDO/Orphanet_309526 |
Defect in V-ATPase | http://www.orpha.net/ORDO/Orphanet_309778 | http://www.orpha.net/ORDO/Orphanet_309526 |
Disorder of lysosomal-related organelles | http://www.orpha.net/ORDO/Orphanet_309340 | http://www.orpha.net/ORDO/Orphanet_68367 |
Papillon-Lefèvre syndrome | http://www.orpha.net/ORDO/Orphanet_678 | http://www.orpha.net/ORDO/Orphanet_309340 |
Disorder of lipid metabolism | http://www.orpha.net/ORDO/Orphanet_309005 | http://www.orpha.net/ORDO/Orphanet_68367 |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis | http://www.orpha.net/ORDO/Orphanet_352301 | http://www.orpha.net/ORDO/Orphanet_309005 |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement | http://www.orpha.net/ORDO/Orphanet_352312 | http://www.orpha.net/ORDO/Orphanet_352301 |
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect | http://www.orpha.net/ORDO/Orphanet_280671 | http://www.orpha.net/ORDO/Orphanet_352312 |
Neutral lipid storage disease | http://www.orpha.net/ORDO/Orphanet_165 | http://www.orpha.net/ORDO/Orphanet_352312 |
Neutral lipid storage myopathy | http://www.orpha.net/ORDO/Orphanet_98908 | http://www.orpha.net/ORDO/Orphanet_165 |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement | http://www.orpha.net/ORDO/Orphanet_352309 | http://www.orpha.net/ORDO/Orphanet_352301 |
Hereditary sensory and autonomic neuropathy type 1 | http://www.orpha.net/ORDO/Orphanet_36386 | http://www.orpha.net/ORDO/Orphanet_352309 |
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement | http://www.orpha.net/ORDO/Orphanet_352306 | http://www.orpha.net/ORDO/Orphanet_352301 |
Congenital ichthyosis - intellectual disability - spastic quadriplegia | http://www.orpha.net/ORDO/Orphanet_352333 | http://www.orpha.net/ORDO/Orphanet_352306 |
Sterol metabolism disorder | http://www.orpha.net/ORDO/Orphanet_79226 | http://www.orpha.net/ORDO/Orphanet_309005 |
Disorder of bile acid synthesis | http://www.orpha.net/ORDO/Orphanet_79168 | http://www.orpha.net/ORDO/Orphanet_79226 |
Sterol biosynthesis disorder | http://www.orpha.net/ORDO/Orphanet_79195 | http://www.orpha.net/ORDO/Orphanet_79226 |
Desmosterolosis | http://www.orpha.net/ORDO/Orphanet_35107 | http://www.orpha.net/ORDO/Orphanet_79195 |
Lathosterolosis | http://www.orpha.net/ORDO/Orphanet_46059 | http://www.orpha.net/ORDO/Orphanet_79195 |
Mevalonate kinase deficiency | http://www.orpha.net/ORDO/Orphanet_309025 | http://www.orpha.net/ORDO/Orphanet_79195 |
Hyperimmunoglobulinemia D with periodic fever | http://www.orpha.net/ORDO/Orphanet_343 | http://www.orpha.net/ORDO/Orphanet_309025 |
glycosylphosphatidylinositol biosynthesis defect 21 | http://www.ebi.ac.uk/efo/EFO_0010564 | http://www.orpha.net/ORDO/Orphanet_309005 |
Disorder of energy metabolism | http://www.orpha.net/ORDO/Orphanet_79200 | http://www.orpha.net/ORDO/Orphanet_68367 |
Mitochondrial disease | http://www.orpha.net/ORDO/Orphanet_68380 | http://www.orpha.net/ORDO/Orphanet_79200 |
Mitochondrial oxidative phosphorylation disorder | http://www.orpha.net/ORDO/Orphanet_223713 | http://www.orpha.net/ORDO/Orphanet_68380 |
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies | http://www.orpha.net/ORDO/Orphanet_2443 | http://www.orpha.net/ORDO/Orphanet_223713 |
Mitochondrial disorder due to a defect in mitochondrial protein synthesis | http://www.orpha.net/ORDO/Orphanet_35696 | http://www.orpha.net/ORDO/Orphanet_2443 |
Hypotonia with lactic acidemia and hyperammonemia | http://www.orpha.net/ORDO/Orphanet_137908 | http://www.orpha.net/ORDO/Orphanet_35696 |
Leukoencephalopathy with brain stem and spinal cord involvement - high lactate | http://www.orpha.net/ORDO/Orphanet_137898 | http://www.orpha.net/ORDO/Orphanet_35696 |
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate | http://www.orpha.net/ORDO/Orphanet_314051 | http://www.orpha.net/ORDO/Orphanet_35696 |
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome | http://www.orpha.net/ORDO/Orphanet_363694 | http://www.orpha.net/ORDO/Orphanet_35696 |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | http://www.orpha.net/ORDO/Orphanet_314637 | http://www.orpha.net/ORDO/Orphanet_35696 |
Autosomal recessive spastic ataxia with leukoencephalopathy | http://www.orpha.net/ORDO/Orphanet_314603 | http://www.orpha.net/ORDO/Orphanet_35696 |
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 | http://www.orpha.net/ORDO/Orphanet_168566 | http://www.orpha.net/ORDO/Orphanet_35696 |
Pontocerebellar hypoplasia type 6 | http://www.orpha.net/ORDO/Orphanet_166073 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 7 | http://www.orpha.net/ORDO/Orphanet_254930 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 2 | http://www.orpha.net/ORDO/Orphanet_254920 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 4 | http://www.orpha.net/ORDO/Orphanet_254925 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 17 | http://www.orpha.net/ORDO/Orphanet_369913 | http://www.orpha.net/ORDO/Orphanet_35696 |
Autosomal recessive spastic ataxia - optic atrophy - dysarthria | http://www.orpha.net/ORDO/Orphanet_254343 | http://www.orpha.net/ORDO/Orphanet_35696 |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | http://www.orpha.net/ORDO/Orphanet_352563 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 27 | http://www.ebi.ac.uk/efo/EFO_0009037 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 26 | http://www.ebi.ac.uk/efo/EFO_0009036 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 25 | http://www.ebi.ac.uk/efo/EFO_0009035 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 24 | http://www.ebi.ac.uk/efo/EFO_0009034 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 30 | http://www.ebi.ac.uk/efo/EFO_0009038 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 23 | http://www.ebi.ac.uk/efo/EFO_0009033 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 21 | http://www.ebi.ac.uk/efo/EFO_0009032 | http://www.orpha.net/ORDO/Orphanet_35696 |
combined oxidative phosphorylation deficiency 33 | http://www.ebi.ac.uk/efo/EFO_0009159 | http://www.orpha.net/ORDO/Orphanet_35696 |
Severe X-linked mitochondrial encephalomyopathy | http://www.orpha.net/ORDO/Orphanet_238329 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 11 | http://www.orpha.net/ORDO/Orphanet_324535 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 13 | http://www.orpha.net/ORDO/Orphanet_319514 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 14 | http://www.orpha.net/ORDO/Orphanet_319519 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 8 | http://www.orpha.net/ORDO/Orphanet_319504 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 9 | http://www.orpha.net/ORDO/Orphanet_319509 | http://www.orpha.net/ORDO/Orphanet_35696 |
Combined oxidative phosphorylation defect type 15 | http://www.orpha.net/ORDO/Orphanet_319524 | http://www.orpha.net/ORDO/Orphanet_35696 |
Coenzyme Q10 deficiency | http://www.orpha.net/ORDO/Orphanet_35656 | http://www.orpha.net/ORDO/Orphanet_2443 |
Deafness - encephaloneuropathy - obesity - valvulopathy | http://www.orpha.net/ORDO/Orphanet_254898 | http://www.orpha.net/ORDO/Orphanet_35656 |
Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease | http://www.orpha.net/ORDO/Orphanet_319678 | http://www.orpha.net/ORDO/Orphanet_35656 |
Mitochondrial oxidative phosphorylation disorder with no known mechanism | http://www.orpha.net/ORDO/Orphanet_254822 | http://www.orpha.net/ORDO/Orphanet_2443 |
Autosomal dominant optic atrophy and late-onset deafness | http://www.orpha.net/ORDO/Orphanet_255117 | http://www.orpha.net/ORDO/Orphanet_254822 |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | http://www.orpha.net/ORDO/Orphanet_391348 | http://www.orpha.net/ORDO/Orphanet_254822 |
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect | http://www.orpha.net/ORDO/Orphanet_330050 | http://www.orpha.net/ORDO/Orphanet_254822 |
Mitochondrial DNA maintenance syndrome | http://www.orpha.net/ORDO/Orphanet_352456 | http://www.orpha.net/ORDO/Orphanet_2443 |
Multiple mitochondrial DNA deletion syndrome | http://www.orpha.net/ORDO/Orphanet_254807 | http://www.orpha.net/ORDO/Orphanet_352456 |
Ataxia neuropathy spectrum | http://www.orpha.net/ORDO/Orphanet_254818 | http://www.orpha.net/ORDO/Orphanet_254807 |
Spinocerebellar ataxia with epilepsy | http://www.orpha.net/ORDO/Orphanet_254881 | http://www.orpha.net/ORDO/Orphanet_254818 |
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis | http://www.orpha.net/ORDO/Orphanet_70595 | http://www.orpha.net/ORDO/Orphanet_254818 |
Autosomal dominant progressive external ophthalmoplegia | http://www.orpha.net/ORDO/Orphanet_254892 | http://www.orpha.net/ORDO/Orphanet_254807 |
Autosomal recessive progressive external ophthalmoplegia | http://www.orpha.net/ORDO/Orphanet_254886 | http://www.orpha.net/ORDO/Orphanet_254807 |
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | http://www.orpha.net/ORDO/Orphanet_329314 | http://www.orpha.net/ORDO/Orphanet_254807 |
Mitochondrial DNA deletion syndrome with progressive myopathy | http://www.orpha.net/ORDO/Orphanet_352470 | http://www.orpha.net/ORDO/Orphanet_254807 |
Progressive external ophthalmoplegia - myopathy - emaciation | http://www.orpha.net/ORDO/Orphanet_352447 | http://www.orpha.net/ORDO/Orphanet_352456 |
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes | http://www.orpha.net/ORDO/Orphanet_309136 | http://www.orpha.net/ORDO/Orphanet_2443 |
Exercise intolerance with lactic acidosis | http://www.orpha.net/ORDO/Orphanet_254843 | http://www.orpha.net/ORDO/Orphanet_309136 |
Acyl-CoA dehydrogenase 9 deficiency | http://www.orpha.net/ORDO/Orphanet_99901 | http://www.orpha.net/ORDO/Orphanet_254843 |
Hereditary myopathy with lactic acidosis due to ISCU deficiency | http://www.orpha.net/ORDO/Orphanet_43115 | http://www.orpha.net/ORDO/Orphanet_254843 |
Renal tubulopathy - encephalopathy - liver failure | http://www.orpha.net/ORDO/Orphanet_254902 | http://www.orpha.net/ORDO/Orphanet_309136 |
Björnstad syndrome | http://www.orpha.net/ORDO/Orphanet_123 | http://www.orpha.net/ORDO/Orphanet_309136 |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | http://www.orpha.net/ORDO/Orphanet_1194 | http://www.orpha.net/ORDO/Orphanet_309136 |
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency | http://www.orpha.net/ORDO/Orphanet_397593 | http://www.orpha.net/ORDO/Orphanet_309136 |
Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency | http://www.orpha.net/ORDO/Orphanet_289527 | http://www.orpha.net/ORDO/Orphanet_309136 |
Fatal multiple mitochondrial dysfunction syndrome | http://www.orpha.net/ORDO/Orphanet_289573 | http://www.orpha.net/ORDO/Orphanet_309136 |
Hypotonia-cerebral atrophy-hyperglycinemia syndrome | http://www.orpha.net/ORDO/Orphanet_363424 | http://www.orpha.net/ORDO/Orphanet_289573 |
Fatal multiple mitochondrial dysfunction syndrome type 1 | http://www.orpha.net/ORDO/Orphanet_401869 | http://www.orpha.net/ORDO/Orphanet_289573 |
Fatal multiple mitochondrial dysfunction syndrome type 2 | http://www.orpha.net/ORDO/Orphanet_401874 | http://www.orpha.net/ORDO/Orphanet_289573 |
Isolated oxidative phosphorylation complex disorder | http://www.orpha.net/ORDO/Orphanet_254846 | http://www.orpha.net/ORDO/Orphanet_223713 |
Isolated ATP synthase deficiency | http://www.orpha.net/ORDO/Orphanet_254913 | http://www.orpha.net/ORDO/Orphanet_254846 |
Isolated cytochrome C oxidase deficiency | http://www.orpha.net/ORDO/Orphanet_254905 | http://www.orpha.net/ORDO/Orphanet_254846 |
Isolated CoQ-cytochrome C reductase deficiency | http://www.orpha.net/ORDO/Orphanet_1460 | http://www.orpha.net/ORDO/Orphanet_254846 |
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies | http://www.orpha.net/ORDO/Orphanet_254758 | http://www.orpha.net/ORDO/Orphanet_223713 |
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA | http://www.orpha.net/ORDO/Orphanet_254776 | http://www.orpha.net/ORDO/Orphanet_254758 |
Maternally-inherited Leigh syndrome | http://www.orpha.net/ORDO/Orphanet_255210 | http://www.orpha.net/ORDO/Orphanet_254776 |
Maternally-inherited mitochondrial dystonia | http://www.orpha.net/ORDO/Orphanet_254851 | http://www.orpha.net/ORDO/Orphanet_254776 |
Maternally-inherited mitochondrial myopathy | http://www.orpha.net/ORDO/Orphanet_254788 | http://www.orpha.net/ORDO/Orphanet_254776 |
Pure mitochondrial myopathy | http://www.orpha.net/ORDO/Orphanet_254854 | http://www.orpha.net/ORDO/Orphanet_254788 |
Lethal infantile mitochondrial myopathy | http://www.orpha.net/ORDO/Orphanet_254857 | http://www.orpha.net/ORDO/Orphanet_254788 |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | http://www.orpha.net/ORDO/Orphanet_254864 | http://www.orpha.net/ORDO/Orphanet_254788 |
Periodic paralysis with later-onset distal motor neuropathy | http://www.orpha.net/ORDO/Orphanet_397750 | http://www.orpha.net/ORDO/Orphanet_254776 |
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation | http://www.orpha.net/ORDO/Orphanet_324525 | http://www.orpha.net/ORDO/Orphanet_254776 |
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA | http://www.orpha.net/ORDO/Orphanet_254767 | http://www.orpha.net/ORDO/Orphanet_254758 |
Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA | http://www.orpha.net/ORDO/Orphanet_254793 | http://www.orpha.net/ORDO/Orphanet_254758 |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_3390 | http://www.orpha.net/ORDO/Orphanet_254793 |
Unspecified mitochondrial disorder | http://www.orpha.net/ORDO/Orphanet_254837 | http://www.orpha.net/ORDO/Orphanet_68380 |
Ethylmalonic encephalopathy | http://www.orpha.net/ORDO/Orphanet_51188 | http://www.orpha.net/ORDO/Orphanet_254837 |
Mitochondrial membrane transport disorder | http://www.orpha.net/ORDO/Orphanet_254827 | http://www.orpha.net/ORDO/Orphanet_68380 |
Mitochondrial protein import disorder | http://www.orpha.net/ORDO/Orphanet_254834 | http://www.orpha.net/ORDO/Orphanet_254827 |
Mitochondrial substrate carrier disorder | http://www.orpha.net/ORDO/Orphanet_254830 | http://www.orpha.net/ORDO/Orphanet_254827 |
Epileptic encephalopathy with global cerebral demyelination | http://www.orpha.net/ORDO/Orphanet_353217 | http://www.orpha.net/ORDO/Orphanet_254830 |
Cardiomyopathy - hypotonia - lactic acidosis | http://www.orpha.net/ORDO/Orphanet_91130 | http://www.orpha.net/ORDO/Orphanet_254830 |
Early myoclonic encephalopathy | http://www.orpha.net/ORDO/Orphanet_1935 | http://www.orpha.net/ORDO/Orphanet_254830 |
Lipoic acid biosynthesis defect | http://www.orpha.net/ORDO/Orphanet_401854 | http://www.orpha.net/ORDO/Orphanet_68380 |
Lipoic acid synthetase deficiency | http://www.orpha.net/ORDO/Orphanet_401859 | http://www.orpha.net/ORDO/Orphanet_401854 |
Lipoyl transferase 1 deficiency | http://www.orpha.net/ORDO/Orphanet_401862 | http://www.orpha.net/ORDO/Orphanet_401854 |
Spasticity-ataxia-gait anomalies syndrome | http://www.orpha.net/ORDO/Orphanet_401866 | http://www.orpha.net/ORDO/Orphanet_401854 |
Hypotonia - cystinuria type 1 | http://www.orpha.net/ORDO/Orphanet_238517 | http://www.orpha.net/ORDO/Orphanet_68380 |
Hypotonia - cystinuria syndrome | http://www.orpha.net/ORDO/Orphanet_163690 | http://www.orpha.net/ORDO/Orphanet_238517 |
Atypical hypotonia - cystinuria syndrome | http://www.orpha.net/ORDO/Orphanet_238523 | http://www.orpha.net/ORDO/Orphanet_238517 |
Pyruvate metabolism disorder | http://www.orpha.net/ORDO/Orphanet_254746 | http://www.orpha.net/ORDO/Orphanet_79200 |
Tricarboxylic acid cycle disorder | http://www.orpha.net/ORDO/Orphanet_254749 | http://www.orpha.net/ORDO/Orphanet_79200 |
Oxoglutaricaciduria | http://www.orpha.net/ORDO/Orphanet_31 | http://www.orpha.net/ORDO/Orphanet_254749 |
Fumaric aciduria | http://www.orpha.net/ORDO/Orphanet_24 | http://www.orpha.net/ORDO/Orphanet_254749 |
Disorder of fatty acid oxidation and ketone body metabolism | http://www.orpha.net/ORDO/Orphanet_79174 | http://www.orpha.net/ORDO/Orphanet_79200 |
Disorder of carnitine cycle and carnitine transport | http://www.orpha.net/ORDO/Orphanet_309130 | http://www.orpha.net/ORDO/Orphanet_79174 |
Carnitine palmitoyl transferase 1A deficiency | http://www.orpha.net/ORDO/Orphanet_156 | http://www.orpha.net/ORDO/Orphanet_309130 |
Carnitine palmitoyltransferase II deficiency | http://www.orpha.net/ORDO/Orphanet_157 | http://www.orpha.net/ORDO/Orphanet_309130 |
Carnitine palmitoyl transferase II deficiency, neonatal form | http://www.orpha.net/ORDO/Orphanet_228308 | http://www.orpha.net/ORDO/Orphanet_157 |
Carnitine palmitoyl transferase II deficiency, severe infantile form | http://www.orpha.net/ORDO/Orphanet_228305 | http://www.orpha.net/ORDO/Orphanet_157 |
Carnitine palmitoyl transferase II deficiency, myopathic form | http://www.orpha.net/ORDO/Orphanet_228302 | http://www.orpha.net/ORDO/Orphanet_157 |
Systemic primary carnitine deficiency | http://www.orpha.net/ORDO/Orphanet_158 | http://www.orpha.net/ORDO/Orphanet_309130 |
Carnitine-acylcarnitine translocase deficiency | http://www.orpha.net/ORDO/Orphanet_159 | http://www.orpha.net/ORDO/Orphanet_309130 |
Metabolic disease due to other fatty acid oxidation disorder | http://www.orpha.net/ORDO/Orphanet_309133 | http://www.orpha.net/ORDO/Orphanet_79174 |
Malonic aciduria | http://www.orpha.net/ORDO/Orphanet_943 | http://www.orpha.net/ORDO/Orphanet_309133 |
Long chain acyl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_99900 | http://www.orpha.net/ORDO/Orphanet_309133 |
Disorder of ketone body metabolism | http://www.orpha.net/ORDO/Orphanet_79183 | http://www.orpha.net/ORDO/Orphanet_79174 |
Succinyl-CoA:3-ketoacid CoA transferase deficiency | http://www.orpha.net/ORDO/Orphanet_832 | http://www.orpha.net/ORDO/Orphanet_79183 |
Disorder of biogenic amine metabolism and transport | http://www.orpha.net/ORDO/Orphanet_79214 | http://www.orpha.net/ORDO/Orphanet_68367 |
Metabolic disease involving other neurotransmitter deficiency | http://www.orpha.net/ORDO/Orphanet_79219 | http://www.orpha.net/ORDO/Orphanet_79214 |
Butyrylcholinesterase deficiency | http://www.orpha.net/ORDO/Orphanet_132 | http://www.orpha.net/ORDO/Orphanet_79219 |
Folinic acid-responsive seizures | http://www.orpha.net/ORDO/Orphanet_79097 | http://www.orpha.net/ORDO/Orphanet_79219 |
Disorder of neurotransmitter metabolism and transport | http://www.orpha.net/ORDO/Orphanet_79169 | http://www.orpha.net/ORDO/Orphanet_79214 |
Disorder of pterin metabolism | http://www.orpha.net/ORDO/Orphanet_309819 | http://www.orpha.net/ORDO/Orphanet_79169 |
Hyperphenylalaninemia | http://www.orpha.net/ORDO/Orphanet_238583 | http://www.orpha.net/ORDO/Orphanet_309819 |
Dihydropteridine reductase deficiency | http://www.orpha.net/ORDO/Orphanet_226 | http://www.orpha.net/ORDO/Orphanet_238583 |
6-pyruvoyl-tetrahydropterin synthase deficiency | http://www.orpha.net/ORDO/Orphanet_13 | http://www.orpha.net/ORDO/Orphanet_238583 |
Dehydratase deficiency | http://www.orpha.net/ORDO/Orphanet_1578 | http://www.orpha.net/ORDO/Orphanet_238583 |
Disorder of catecholamine synthesis | http://www.orpha.net/ORDO/Orphanet_309830 | http://www.orpha.net/ORDO/Orphanet_79169 |
Aromatic L-amino acid decarboxylase deficiency | http://www.orpha.net/ORDO/Orphanet_35708 | http://www.orpha.net/ORDO/Orphanet_309830 |
Disorder of gamma-aminobutyric acid metabolism | http://www.orpha.net/ORDO/Orphanet_79175 | http://www.orpha.net/ORDO/Orphanet_79214 |
Gamma-aminobutyric acid transaminase deficiency | http://www.orpha.net/ORDO/Orphanet_2066 | http://www.orpha.net/ORDO/Orphanet_79175 |
Disorder of pyridoxine metabolism | http://www.orpha.net/ORDO/Orphanet_79192 | http://www.orpha.net/ORDO/Orphanet_79214 |
Pyridoxine-dependent epilepsy | http://www.orpha.net/ORDO/Orphanet_3006 | http://www.orpha.net/ORDO/Orphanet_79192 |
Pyridoxal phosphate-responsive seizures | http://www.orpha.net/ORDO/Orphanet_79096 | http://www.orpha.net/ORDO/Orphanet_79192 |
Disorder of purine or pyrimidine metabolism | http://www.orpha.net/ORDO/Orphanet_79224 | http://www.orpha.net/ORDO/Orphanet_68367 |
Disorder of pyrimidine metabolism | http://www.orpha.net/ORDO/Orphanet_79193 | http://www.orpha.net/ORDO/Orphanet_79224 |
Dihydropyrimidinuria | http://www.orpha.net/ORDO/Orphanet_38874 | http://www.orpha.net/ORDO/Orphanet_79193 |
Hyper-beta-alaninemia | http://www.orpha.net/ORDO/Orphanet_309147 | http://www.orpha.net/ORDO/Orphanet_79193 |
Beta-ureidopropionase deficiency | http://www.orpha.net/ORDO/Orphanet_65287 | http://www.orpha.net/ORDO/Orphanet_79193 |
Dihydropyrimidine dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_1675 | http://www.orpha.net/ORDO/Orphanet_79193 |
Disorder of purine metabolism | http://www.orpha.net/ORDO/Orphanet_79191 | http://www.orpha.net/ORDO/Orphanet_79224 |
Adenine phosphoribosyltransferase deficiency | http://www.orpha.net/ORDO/Orphanet_976 | http://www.orpha.net/ORDO/Orphanet_79191 |
Purine nucleoside phosphorylase deficiency | http://www.orpha.net/ORDO/Orphanet_760 | http://www.orpha.net/ORDO/Orphanet_79191 |
Severe combined immunodeficiency due to adenosine deaminase deficiency | http://www.orpha.net/ORDO/Orphanet_277 | http://www.orpha.net/ORDO/Orphanet_79191 |
Thiopurine S-methyltransferase deficiency | http://www.orpha.net/ORDO/Orphanet_3315 | http://www.orpha.net/ORDO/Orphanet_79191 |
Hereditary xanthinuria | http://www.orpha.net/ORDO/Orphanet_3467 | http://www.orpha.net/ORDO/Orphanet_79191 |
Xanthinuria type I | http://www.orpha.net/ORDO/Orphanet_93601 | http://www.orpha.net/ORDO/Orphanet_3467 |
Xanthinuria type II | http://www.orpha.net/ORDO/Orphanet_93602 | http://www.orpha.net/ORDO/Orphanet_3467 |
Familial juvenile hyperuricemic nephropathy type 1 | http://www.orpha.net/ORDO/Orphanet_209886 | http://www.orpha.net/ORDO/Orphanet_79191 |
hyperuricemia | http://www.ebi.ac.uk/efo/EFO_0009104 | http://www.orpha.net/ORDO/Orphanet_79191 |
Adenosine monophosphate deaminase deficiency | http://www.orpha.net/ORDO/Orphanet_45 | http://www.orpha.net/ORDO/Orphanet_79191 |
Adenylosuccinate lyase deficiency | http://www.orpha.net/ORDO/Orphanet_46 | http://www.orpha.net/ORDO/Orphanet_79191 |
Disorder of amino acid and other organic acid metabolism | http://www.orpha.net/ORDO/Orphanet_79062 | http://www.orpha.net/ORDO/Orphanet_68367 |
Disorder of beta and omega amino acid metabolism | http://www.orpha.net/ORDO/Orphanet_308407 | http://www.orpha.net/ORDO/Orphanet_79062 |
Disorder of asparagine metabolism | http://www.orpha.net/ORDO/Orphanet_391381 | http://www.orpha.net/ORDO/Orphanet_79062 |
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome | http://www.orpha.net/ORDO/Orphanet_391376 | http://www.orpha.net/ORDO/Orphanet_391381 |
Disorder of melanin metabolism | http://www.orpha.net/ORDO/Orphanet_352728 | http://www.orpha.net/ORDO/Orphanet_79062 |
Organic aciduria | http://www.orpha.net/ORDO/Orphanet_289899 | http://www.orpha.net/ORDO/Orphanet_79062 |
Classic organic aciduria | http://www.orpha.net/ORDO/Orphanet_79163 | http://www.orpha.net/ORDO/Orphanet_289899 |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | http://www.orpha.net/ORDO/Orphanet_88639 | http://www.orpha.net/ORDO/Orphanet_79163 |
Isolated 3-methylcrotonyl-CoA carboxylase deficiency | http://www.orpha.net/ORDO/Orphanet_6 | http://www.orpha.net/ORDO/Orphanet_79163 |
Multiple carboxylase deficiency | http://www.orpha.net/ORDO/Orphanet_148 | http://www.orpha.net/ORDO/Orphanet_79163 |
Holocarboxylase synthetase deficiency | http://www.orpha.net/ORDO/Orphanet_79242 | http://www.orpha.net/ORDO/Orphanet_148 |
Methylmalonic acidemia without homocystinuria | http://www.orpha.net/ORDO/Orphanet_293355 | http://www.orpha.net/ORDO/Orphanet_79163 |
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | http://www.orpha.net/ORDO/Orphanet_308425 | http://www.orpha.net/ORDO/Orphanet_293355 |
methylmalonic aciduria cblb type | http://www.ebi.ac.uk/efo/EFO_0009074 | http://www.orpha.net/ORDO/Orphanet_79163 |
Combined malonic and methylmalonic acidemia | http://www.orpha.net/ORDO/Orphanet_289504 | http://www.orpha.net/ORDO/Orphanet_79163 |
Isovaleric acidemia | http://www.orpha.net/ORDO/Orphanet_33 | http://www.orpha.net/ORDO/Orphanet_79163 |
Propionic acidemia | http://www.orpha.net/ORDO/Orphanet_35 | http://www.orpha.net/ORDO/Orphanet_79163 |
Isobutyryl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_79159 | http://www.orpha.net/ORDO/Orphanet_79163 |
Cerebral organic aciduria | http://www.orpha.net/ORDO/Orphanet_79158 | http://www.orpha.net/ORDO/Orphanet_289899 |
Aminoacylase deficiency | http://www.orpha.net/ORDO/Orphanet_308448 | http://www.orpha.net/ORDO/Orphanet_79158 |
Neurological conditions associated with aminoacylase 1 deficiency | http://www.orpha.net/ORDO/Orphanet_137754 | http://www.orpha.net/ORDO/Orphanet_308448 |
Aminoacylase 1 deficiency | http://www.ebi.ac.uk/efo/EFO_1001981 | http://www.orpha.net/ORDO/Orphanet_308448 |
Glutaryl-CoA dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_25 | http://www.orpha.net/ORDO/Orphanet_79158 |
Disorder of glutamine metabolism | http://www.orpha.net/ORDO/Orphanet_289841 | http://www.orpha.net/ORDO/Orphanet_79062 |
Congenital brain dysgenesis due to glutamine synthetase deficiency | http://www.orpha.net/ORDO/Orphanet_71278 | http://www.orpha.net/ORDO/Orphanet_289841 |
Disorder of lysine and hydroxylysine metabolism | http://www.orpha.net/ORDO/Orphanet_289832 | http://www.orpha.net/ORDO/Orphanet_79062 |
Hyperlysinemia | http://www.orpha.net/ORDO/Orphanet_2203 | http://www.orpha.net/ORDO/Orphanet_289832 |
Saccharopinuria | http://www.orpha.net/ORDO/Orphanet_3124 | http://www.orpha.net/ORDO/Orphanet_289832 |
Seizures - intellectual disability due to hydroxylysinuria | http://www.orpha.net/ORDO/Orphanet_79156 | http://www.orpha.net/ORDO/Orphanet_289832 |
Disorder of tryptophan metabolism | http://www.orpha.net/ORDO/Orphanet_289829 | http://www.orpha.net/ORDO/Orphanet_79062 |
Hypertryptophanemia | http://www.orpha.net/ORDO/Orphanet_2224 | http://www.orpha.net/ORDO/Orphanet_289829 |
Encephalopathy due to hydroxykynureninuria | http://www.orpha.net/ORDO/Orphanet_79155 | http://www.orpha.net/ORDO/Orphanet_289829 |
Disorder of urea cycle metabolism and ammonia detoxification | http://www.orpha.net/ORDO/Orphanet_79167 | http://www.orpha.net/ORDO/Orphanet_79062 |
Hyperammonemia due to N-acetylglutamate synthetase deficiency | http://www.orpha.net/ORDO/Orphanet_927 | http://www.orpha.net/ORDO/Orphanet_79167 |
Hyperornithinemia-hyperammonemia-homocitrullinuria | http://www.orpha.net/ORDO/Orphanet_415 | http://www.orpha.net/ORDO/Orphanet_79167 |
Citrullinemia | http://www.orpha.net/ORDO/Orphanet_187 | http://www.orpha.net/ORDO/Orphanet_79167 |
Citrin deficiency | http://www.orpha.net/ORDO/Orphanet_247582 | http://www.orpha.net/ORDO/Orphanet_187 |
Citrullinemia type II | http://www.orpha.net/ORDO/Orphanet_247585 | http://www.orpha.net/ORDO/Orphanet_247582 |
Neonatal intrahepatic cholestasis due to citrin deficiency | http://www.orpha.net/ORDO/Orphanet_247598 | http://www.orpha.net/ORDO/Orphanet_247582 |
Citrullinemia type I | http://www.orpha.net/ORDO/Orphanet_247525 | http://www.orpha.net/ORDO/Orphanet_187 |
Adult-onset citrullinemia type I | http://www.orpha.net/ORDO/Orphanet_247573 | http://www.orpha.net/ORDO/Orphanet_247525 |
Acute neonatal citrullinemia type I | http://www.orpha.net/ORDO/Orphanet_247546 | http://www.orpha.net/ORDO/Orphanet_247525 |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | http://www.orpha.net/ORDO/Orphanet_401948 | http://www.orpha.net/ORDO/Orphanet_79167 |
Argininemia | http://www.orpha.net/ORDO/Orphanet_90 | http://www.orpha.net/ORDO/Orphanet_79167 |
Argininosuccinic aciduria | http://www.orpha.net/ORDO/Orphanet_23 | http://www.orpha.net/ORDO/Orphanet_79167 |
Disorder of amino acid absorption and transport | http://www.orpha.net/ORDO/Orphanet_79166 | http://www.orpha.net/ORDO/Orphanet_79062 |
Dicarboxylic aminoaciduria | http://www.orpha.net/ORDO/Orphanet_2195 | http://www.orpha.net/ORDO/Orphanet_79166 |
Blue diaper syndrome | http://www.orpha.net/ORDO/Orphanet_94086 | http://www.orpha.net/ORDO/Orphanet_79166 |
Lysinuric protein intolerance | http://www.orpha.net/ORDO/Orphanet_470 | http://www.orpha.net/ORDO/Orphanet_79166 |
Cystinuria | http://www.orpha.net/ORDO/Orphanet_214 | http://www.orpha.net/ORDO/Orphanet_79166 |
Cystinuria type A | http://www.orpha.net/ORDO/Orphanet_93612 | http://www.orpha.net/ORDO/Orphanet_214 |
Cystinuria type B | http://www.orpha.net/ORDO/Orphanet_93613 | http://www.orpha.net/ORDO/Orphanet_214 |
Disorder of neutral amino acid transport | http://www.orpha.net/ORDO/Orphanet_308451 | http://www.orpha.net/ORDO/Orphanet_79166 |
Iminoglycinuria | http://www.orpha.net/ORDO/Orphanet_42062 | http://www.orpha.net/ORDO/Orphanet_308451 |
Hyperdibasic aminoaciduria type 1 | http://www.orpha.net/ORDO/Orphanet_1032 | http://www.orpha.net/ORDO/Orphanet_79166 |
Disorder of histidine metabolism | http://www.orpha.net/ORDO/Orphanet_79181 | http://www.orpha.net/ORDO/Orphanet_79062 |
Histidinemia | http://www.orpha.net/ORDO/Orphanet_2157 | http://www.orpha.net/ORDO/Orphanet_79181 |
Urocanic aciduria | http://www.orpha.net/ORDO/Orphanet_210128 | http://www.orpha.net/ORDO/Orphanet_79181 |
Disorder of methionine cycle and sulfur amino acid metabolism | http://www.orpha.net/ORDO/Orphanet_79173 | http://www.orpha.net/ORDO/Orphanet_79062 |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency | http://www.orpha.net/ORDO/Orphanet_88618 | http://www.orpha.net/ORDO/Orphanet_79173 |
Brain demyelination due to methionine adenosyltransferase deficiency | http://www.orpha.net/ORDO/Orphanet_168598 | http://www.orpha.net/ORDO/Orphanet_79173 |
Cystathioninuria | http://www.orpha.net/ORDO/Orphanet_212 | http://www.orpha.net/ORDO/Orphanet_79173 |
Disorder of phenylalanin or tyrosine metabolism | http://www.orpha.net/ORDO/Orphanet_79190 | http://www.orpha.net/ORDO/Orphanet_79062 |
Disorder of phenylalanine metabolism | http://www.orpha.net/ORDO/Orphanet_284814 | http://www.orpha.net/ORDO/Orphanet_79190 |
Maternal hyperphenylalaninemia | http://www.orpha.net/ORDO/Orphanet_2209 | http://www.orpha.net/ORDO/Orphanet_284814 |
Phenylketonuria | http://www.orpha.net/ORDO/Orphanet_716 | http://www.orpha.net/ORDO/Orphanet_284814 |
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria | http://www.orpha.net/ORDO/Orphanet_293284 | http://www.orpha.net/ORDO/Orphanet_716 |
Mild hyperphenylalaninemia | http://www.orpha.net/ORDO/Orphanet_79651 | http://www.orpha.net/ORDO/Orphanet_716 |
Mild phenylketonuria | http://www.orpha.net/ORDO/Orphanet_79253 | http://www.orpha.net/ORDO/Orphanet_716 |
Classical phenylketonuria | http://www.orpha.net/ORDO/Orphanet_79254 | http://www.orpha.net/ORDO/Orphanet_716 |
Disorder of tyrosine metabolism | http://www.orpha.net/ORDO/Orphanet_284818 | http://www.orpha.net/ORDO/Orphanet_79190 |
Hawkinsinuria | http://www.orpha.net/ORDO/Orphanet_2118 | http://www.orpha.net/ORDO/Orphanet_284818 |
Transient tyrosinemia of the newborn | http://www.orpha.net/ORDO/Orphanet_3402 | http://www.orpha.net/ORDO/Orphanet_284818 |
Tyrosinemia type 3 | http://www.orpha.net/ORDO/Orphanet_69723 | http://www.orpha.net/ORDO/Orphanet_284818 |
Disorder of ornithine or proline metabolism | http://www.orpha.net/ORDO/Orphanet_79185 | http://www.orpha.net/ORDO/Orphanet_79062 |
Disorder of proline metabolism | http://www.orpha.net/ORDO/Orphanet_289866 | http://www.orpha.net/ORDO/Orphanet_79185 |
Hyperprolinemia type 1 | http://www.orpha.net/ORDO/Orphanet_419 | http://www.orpha.net/ORDO/Orphanet_289866 |
Hyperprolinemia type 2 | http://www.orpha.net/ORDO/Orphanet_79101 | http://www.orpha.net/ORDO/Orphanet_289866 |
Disorder of ornithine metabolism | http://www.orpha.net/ORDO/Orphanet_289869 | http://www.orpha.net/ORDO/Orphanet_79185 |
Disorder of peptide metabolism | http://www.orpha.net/ORDO/Orphanet_79187 | http://www.orpha.net/ORDO/Orphanet_79062 |
Homocarnosinosis | http://www.orpha.net/ORDO/Orphanet_2168 | http://www.orpha.net/ORDO/Orphanet_79187 |
Prolidase deficiency | http://www.orpha.net/ORDO/Orphanet_742 | http://www.orpha.net/ORDO/Orphanet_79187 |
Carnosinemia | http://www.orpha.net/ORDO/Orphanet_1361 | http://www.orpha.net/ORDO/Orphanet_79187 |
Disorder of the gamma-glutamyl cycle | http://www.orpha.net/ORDO/Orphanet_79196 | http://www.orpha.net/ORDO/Orphanet_79062 |
Gamma-glutamyl transpeptidase deficiency | http://www.orpha.net/ORDO/Orphanet_33573 | http://www.orpha.net/ORDO/Orphanet_79196 |
Disorder of branched-chain amino acid metabolism | http://www.orpha.net/ORDO/Orphanet_79197 | http://www.orpha.net/ORDO/Orphanet_79062 |
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_289307 | http://www.orpha.net/ORDO/Orphanet_79197 |
Maple syrup urine disease | http://www.orpha.net/ORDO/Orphanet_511 | http://www.orpha.net/ORDO/Orphanet_79197 |
Classic maple syrup urine disease | http://www.orpha.net/ORDO/Orphanet_268145 | http://www.orpha.net/ORDO/Orphanet_511 |
Intermediate maple syrup urine disease | http://www.orpha.net/ORDO/Orphanet_268162 | http://www.orpha.net/ORDO/Orphanet_511 |
Intermittent maple syrup urine disease | http://www.orpha.net/ORDO/Orphanet_268173 | http://www.orpha.net/ORDO/Orphanet_511 |
Thiamine-responsive maple syrup urine disease | http://www.orpha.net/ORDO/Orphanet_268184 | http://www.orpha.net/ORDO/Orphanet_511 |
Disorder of serine or glycine metabolism | http://www.orpha.net/ORDO/Orphanet_79194 | http://www.orpha.net/ORDO/Orphanet_79062 |
Neurometabolic disorder due to serine deficiency | http://www.orpha.net/ORDO/Orphanet_35705 | http://www.orpha.net/ORDO/Orphanet_79194 |
Phosphoserine aminotransferase deficiency | http://www.orpha.net/ORDO/Orphanet_284417 | http://www.orpha.net/ORDO/Orphanet_35705 |
3-phosphoserine phosphatase deficiency | http://www.orpha.net/ORDO/Orphanet_79350 | http://www.orpha.net/ORDO/Orphanet_35705 |
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | http://www.orpha.net/ORDO/Orphanet_79351 | http://www.orpha.net/ORDO/Orphanet_35705 |
Dimethylglycine dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_243343 | http://www.orpha.net/ORDO/Orphanet_79194 |
Glycine encephalopathy | http://www.orpha.net/ORDO/Orphanet_407 | http://www.orpha.net/ORDO/Orphanet_79194 |
Atypical glycine encephalopathy | http://www.orpha.net/ORDO/Orphanet_289863 | http://www.orpha.net/ORDO/Orphanet_407 |
Infantile glycine encephalopathy | http://www.orpha.net/ORDO/Orphanet_289860 | http://www.orpha.net/ORDO/Orphanet_407 |
Neonatal glycine encephalopathy | http://www.orpha.net/ORDO/Orphanet_289857 | http://www.orpha.net/ORDO/Orphanet_407 |
Sarcosinemia | http://www.orpha.net/ORDO/Orphanet_3129 | http://www.orpha.net/ORDO/Orphanet_79194 |
Disorder of porphyrin and haem metabolism | http://www.orpha.net/ORDO/Orphanet_309813 | http://www.orpha.net/ORDO/Orphanet_68367 |
Porphyria | http://www.orpha.net/ORDO/Orphanet_738 | http://www.orpha.net/ORDO/Orphanet_309813 |
Erythropoietic uroporphyria associated with myeloid malignancy | http://www.orpha.net/ORDO/Orphanet_280379 | http://www.orpha.net/ORDO/Orphanet_738 |
Acute hepatic porphyria | http://www.orpha.net/ORDO/Orphanet_95157 | http://www.orpha.net/ORDO/Orphanet_738 |
Porphyria due to ALA dehydratase deficiency | http://www.orpha.net/ORDO/Orphanet_100924 | http://www.orpha.net/ORDO/Orphanet_95157 |
Porphyria variegata | http://www.orpha.net/ORDO/Orphanet_79473 | http://www.orpha.net/ORDO/Orphanet_95157 |
Hereditary coproporphyria | http://www.orpha.net/ORDO/Orphanet_79273 | http://www.orpha.net/ORDO/Orphanet_95157 |
Chronic hepatic porphyria | http://www.orpha.net/ORDO/Orphanet_95161 | http://www.orpha.net/ORDO/Orphanet_738 |
Hepatoerythropoietic porphyria | http://www.orpha.net/ORDO/Orphanet_95159 | http://www.orpha.net/ORDO/Orphanet_95161 |
X-linked erythropoietic protoporphyria | http://www.ebi.ac.uk/efo/EFO_0009064 | http://www.orpha.net/ORDO/Orphanet_738 |
Erythropoietic protoporphyria | http://www.orpha.net/ORDO/Orphanet_79278 | http://www.orpha.net/ORDO/Orphanet_738 |
Disorder of bilirubin metabolism and excretion | http://www.orpha.net/ORDO/Orphanet_309816 | http://www.orpha.net/ORDO/Orphanet_309813 |
Arthrogryposis - renal dysfunction - cholestasis | http://www.orpha.net/ORDO/Orphanet_2697 | http://www.orpha.net/ORDO/Orphanet_309816 |
Disorder of metabolite absorption and transport | http://www.orpha.net/ORDO/Orphanet_309824 | http://www.orpha.net/ORDO/Orphanet_68367 |
Disorder of mineral absorption and transport | http://www.orpha.net/ORDO/Orphanet_309836 | http://www.orpha.net/ORDO/Orphanet_309824 |
Disorder of manganese transport | http://www.orpha.net/ORDO/Orphanet_309851 | http://www.orpha.net/ORDO/Orphanet_309836 |
Disorder of magnesium transport | http://www.orpha.net/ORDO/Orphanet_309848 | http://www.orpha.net/ORDO/Orphanet_309836 |
Familial primary hypomagnesemia | http://www.orpha.net/ORDO/Orphanet_34526 | http://www.orpha.net/ORDO/Orphanet_309848 |
Familial primary hypomagnesemia with normocalcuria | http://www.orpha.net/ORDO/Orphanet_306522 | http://www.orpha.net/ORDO/Orphanet_34526 |
Primary hypomagnesemia with secondary hypocalcemia | http://www.orpha.net/ORDO/Orphanet_30924 | http://www.orpha.net/ORDO/Orphanet_306522 |
Familial primary hypomagnesemia with normocalciuria and normocalcemia | http://www.orpha.net/ORDO/Orphanet_34527 | http://www.orpha.net/ORDO/Orphanet_306522 |
Isolated autosomal dominant hypomagnesemia, Glaudemans type | http://www.orpha.net/ORDO/Orphanet_199326 | http://www.orpha.net/ORDO/Orphanet_306522 |
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis | http://www.orpha.net/ORDO/Orphanet_306516 | http://www.orpha.net/ORDO/Orphanet_34526 |
Familial primary hypomagnesemia with hypocalcuria | http://www.orpha.net/ORDO/Orphanet_306519 | http://www.orpha.net/ORDO/Orphanet_34526 |
Autosomal dominant primary hypomagnesemia with hypocalciuria | http://www.orpha.net/ORDO/Orphanet_34528 | http://www.orpha.net/ORDO/Orphanet_306519 |
Disorder of iron metabolism and transport | http://www.orpha.net/ORDO/Orphanet_309842 | http://www.orpha.net/ORDO/Orphanet_309836 |
Disorder of zinc metabolism | http://www.orpha.net/ORDO/Orphanet_309845 | http://www.orpha.net/ORDO/Orphanet_309836 |
Recurrent infections - inflammatory syndrome due to zinc metabolism disorder | http://www.orpha.net/ORDO/Orphanet_251523 | http://www.orpha.net/ORDO/Orphanet_309845 |
Disorder of copper metabolism | http://www.orpha.net/ORDO/Orphanet_309839 | http://www.orpha.net/ORDO/Orphanet_309836 |
Familial benign copper deficiency | http://www.orpha.net/ORDO/Orphanet_1551 | http://www.orpha.net/ORDO/Orphanet_309839 |
Disorder of vitamin and non-protein cofactor absorption and transport | http://www.orpha.net/ORDO/Orphanet_309827 | http://www.orpha.net/ORDO/Orphanet_309824 |
Disorder of folate metabolism and transport | http://www.orpha.net/ORDO/Orphanet_285657 | http://www.orpha.net/ORDO/Orphanet_309827 |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | http://www.orpha.net/ORDO/Orphanet_395 | http://www.orpha.net/ORDO/Orphanet_285657 |
Disorder of other vitamins and cofactors metabolism and transport | http://www.orpha.net/ORDO/Orphanet_309833 | http://www.orpha.net/ORDO/Orphanet_309827 |
Disorder of carbohydrate metabolism | http://www.orpha.net/ORDO/Orphanet_79161 | http://www.orpha.net/ORDO/Orphanet_68367 |
Disorder of glyoxylate metabolism | http://www.orpha.net/ORDO/Orphanet_308998 | http://www.orpha.net/ORDO/Orphanet_79161 |
Disorder of galactose metabolism | http://www.orpha.net/ORDO/Orphanet_308467 | http://www.orpha.net/ORDO/Orphanet_79161 |
Disorder of fructose metabolism | http://www.orpha.net/ORDO/Orphanet_308463 | http://www.orpha.net/ORDO/Orphanet_79161 |
Essential fructosuria | http://www.orpha.net/ORDO/Orphanet_2056 | http://www.orpha.net/ORDO/Orphanet_308463 |
Fructose-1,6-bisphosphatase deficiency | http://www.orpha.net/ORDO/Orphanet_348 | http://www.orpha.net/ORDO/Orphanet_308463 |
Disorder of glycolysis | http://www.orpha.net/ORDO/Orphanet_308459 | http://www.orpha.net/ORDO/Orphanet_79161 |
Disorder of carbohydrate absorption and transport | http://www.orpha.net/ORDO/Orphanet_309001 | http://www.orpha.net/ORDO/Orphanet_79161 |
Glucose transport disorder | http://www.orpha.net/ORDO/Orphanet_79178 | http://www.orpha.net/ORDO/Orphanet_309001 |
Renal glucosuria | http://www.orpha.net/ORDO/Orphanet_69076 | http://www.orpha.net/ORDO/Orphanet_79178 |
Encephalopathy due to GLUT1 deficiency | http://www.orpha.net/ORDO/Orphanet_71277 | http://www.orpha.net/ORDO/Orphanet_79178 |
glut1 deficiency syndrome 1, autosomal recessive | http://www.ebi.ac.uk/efo/EFO_0009139 | http://www.orpha.net/ORDO/Orphanet_79178 |
pyruvate decarboxylase deficiency | http://www.ebi.ac.uk/efo/EFO_0007459 | http://www.orpha.net/ORDO/Orphanet_79161 |
Glycogen storage disease | http://www.orpha.net/ORDO/Orphanet_79201 | http://www.orpha.net/ORDO/Orphanet_79161 |
Glycogen storage disease due to lactate dehydrogenase deficiency | http://www.orpha.net/ORDO/Orphanet_2364 | http://www.orpha.net/ORDO/Orphanet_79201 |
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | http://www.orpha.net/ORDO/Orphanet_284435 | http://www.orpha.net/ORDO/Orphanet_2364 |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | http://www.orpha.net/ORDO/Orphanet_284426 | http://www.orpha.net/ORDO/Orphanet_2364 |
Glycogen storage disease due to phosphoglucomutase deficiency | http://www.orpha.net/ORDO/Orphanet_711 | http://www.orpha.net/ORDO/Orphanet_79201 |
Glycogen storage disease due to phosphorylase kinase deficiency | http://www.orpha.net/ORDO/Orphanet_370 | http://www.orpha.net/ORDO/Orphanet_79201 |
Glycogen storage disease due to glycogen synthase deficiency | http://www.orpha.net/ORDO/Orphanet_308520 | http://www.orpha.net/ORDO/Orphanet_79201 |
Glycogen storage disease due to hepatic glycogen synthase deficiency | http://www.orpha.net/ORDO/Orphanet_2089 | http://www.orpha.net/ORDO/Orphanet_308520 |
Glycogen storage disease due to muscle and heart glycogen synthase deficiency | http://www.orpha.net/ORDO/Orphanet_137625 | http://www.orpha.net/ORDO/Orphanet_308520 |
Glycogen storage disease due to muscle beta-enolase deficiency | http://www.orpha.net/ORDO/Orphanet_99849 | http://www.orpha.net/ORDO/Orphanet_79201 |
Glycogen storage disease due to phosphoglycerate mutase deficiency | http://www.orpha.net/ORDO/Orphanet_97234 | http://www.orpha.net/ORDO/Orphanet_79201 |
Glycogen storage disease due to glycogenin deficiency | http://www.orpha.net/ORDO/Orphanet_263297 | http://www.orpha.net/ORDO/Orphanet_79201 |
Polyglucosan body myopathy | http://www.orpha.net/ORDO/Orphanet_397937 | http://www.orpha.net/ORDO/Orphanet_79201 |
glycogen storage disease VIII | http://www.ebi.ac.uk/efo/EFO_1000952 | http://www.orpha.net/ORDO/Orphanet_79201 |
Disorder of glycerol metabolism | http://www.orpha.net/ORDO/Orphanet_79179 | http://www.orpha.net/ORDO/Orphanet_79161 |
Glycerol kinase deficiency | http://www.orpha.net/ORDO/Orphanet_308993 | http://www.orpha.net/ORDO/Orphanet_79179 |
Isolated glycerol kinase deficiency | http://www.orpha.net/ORDO/Orphanet_408 | http://www.orpha.net/ORDO/Orphanet_308993 |
Glycerol kinase deficiency, adult form | http://www.orpha.net/ORDO/Orphanet_284414 | http://www.orpha.net/ORDO/Orphanet_408 |
Glycerol kinase deficiency, juvenile form | http://www.orpha.net/ORDO/Orphanet_284411 | http://www.orpha.net/ORDO/Orphanet_408 |
Monosomy Xp21 | http://www.orpha.net/ORDO/Orphanet_261476 | http://www.orpha.net/ORDO/Orphanet_308993 |
Gluconeogenesis disorder | http://www.orpha.net/ORDO/Orphanet_79177 | http://www.orpha.net/ORDO/Orphanet_79161 |
Phosphoenolpyruvate carboxykinase deficiency | http://www.orpha.net/ORDO/Orphanet_2880 | http://www.orpha.net/ORDO/Orphanet_79177 |
Disorder of pentose phosphate metabolism | http://www.orpha.net/ORDO/Orphanet_79186 | http://www.orpha.net/ORDO/Orphanet_79161 |
Transaldolase deficiency | http://www.orpha.net/ORDO/Orphanet_101028 | http://www.orpha.net/ORDO/Orphanet_79186 |
Pentosuria | http://www.orpha.net/ORDO/Orphanet_2843 | http://www.orpha.net/ORDO/Orphanet_79186 |
aromatase excess syndrome | http://purl.obolibrary.org/obo/MONDO_0007690 | http://purl.obolibrary.org/obo/MONDO_0019052 |
genetic recurrent myoglobinuria | http://purl.obolibrary.org/obo/MONDO_0020504 | http://purl.obolibrary.org/obo/MONDO_0019052 |
DNA repair deficiency | http://www.ebi.ac.uk/efo/EFO_0008499 | http://purl.obolibrary.org/obo/MONDO_0019052 |
severe combined immunodeficiency due to DCLRE1C deficiency | http://purl.obolibrary.org/obo/MONDO_0011225 | http://www.ebi.ac.uk/efo/EFO_0008499 |
UV-sensitive syndrome | http://purl.obolibrary.org/obo/MONDO_0015797 | http://www.ebi.ac.uk/efo/EFO_0008499 |
mismatch repair cancer syndrome | http://purl.obolibrary.org/obo/MONDO_0031219 | http://www.ebi.ac.uk/efo/EFO_0008499 |
inborn disorder of amino acid and other organic acid metabolism | http://purl.obolibrary.org/obo/MONDO_0019189 | http://purl.obolibrary.org/obo/MONDO_0019052 |
disorder of glutamine metabolism | http://purl.obolibrary.org/obo/MONDO_0017352 | http://purl.obolibrary.org/obo/MONDO_0019189 |
disorder of beta and omega amino acid metabolism | http://purl.obolibrary.org/obo/MONDO_0017684 | http://purl.obolibrary.org/obo/MONDO_0019189 |
inborn disorder of the gamma-glutamyl cycle | http://purl.obolibrary.org/obo/MONDO_0019241 | http://purl.obolibrary.org/obo/MONDO_0019189 |
inherited glutathione metabolism disease | http://purl.obolibrary.org/obo/MONDO_0040566 | http://purl.obolibrary.org/obo/MONDO_0019241 |
inherited glutathione synthetase deficiency | http://purl.obolibrary.org/obo/MONDO_0017909 | http://purl.obolibrary.org/obo/MONDO_0040566 |
glutathione synthetase deficiency with 5-oxoprolinuria | http://purl.obolibrary.org/obo/MONDO_0009947 | http://purl.obolibrary.org/obo/MONDO_0017909 |
glutathione synthetase deficiency without 5-oxoprolinuria | http://purl.obolibrary.org/obo/MONDO_0009284 | http://purl.obolibrary.org/obo/MONDO_0017909 |
gamma-glutamylcysteine synthetase deficiency | http://purl.obolibrary.org/obo/MONDO_0009259 | http://purl.obolibrary.org/obo/MONDO_0040566 |
5-oxoprolinase deficiency | http://purl.obolibrary.org/obo/MONDO_0009825 | http://purl.obolibrary.org/obo/MONDO_0019241 |
gamma-glutamyl transpeptidase deficiency | http://purl.obolibrary.org/obo/MONDO_0009285 | http://purl.obolibrary.org/obo/MONDO_0019241 |
inborn disorder of ornithine or proline metabolism | http://purl.obolibrary.org/obo/MONDO_0019230 | http://purl.obolibrary.org/obo/MONDO_0019189 |
inborn disorder of peptide metabolism | http://purl.obolibrary.org/obo/MONDO_0019232 | http://purl.obolibrary.org/obo/MONDO_0019189 |
inborn disorder of phenylalanin or tyrosine metabolism | http://purl.obolibrary.org/obo/MONDO_0019235 | http://purl.obolibrary.org/obo/MONDO_0019189 |
inborn disorder of amino acid absorption and transport | http://purl.obolibrary.org/obo/MONDO_0019216 | http://purl.obolibrary.org/obo/MONDO_0019189 |
disorder of neutral amino acid transport | http://purl.obolibrary.org/obo/MONDO_0017687 | http://purl.obolibrary.org/obo/MONDO_0019216 |
iminoglycinuria | http://purl.obolibrary.org/obo/MONDO_0009448 | http://purl.obolibrary.org/obo/MONDO_0017687 |
hyperdibasic aminoaciduria type 1 | http://purl.obolibrary.org/obo/MONDO_0009108 | http://purl.obolibrary.org/obo/MONDO_0019216 |
blue diaper syndrome | http://purl.obolibrary.org/obo/MONDO_0008877 | http://purl.obolibrary.org/obo/MONDO_0019216 |
disorder of melanin metabolism | http://purl.obolibrary.org/obo/MONDO_0018134 | http://purl.obolibrary.org/obo/MONDO_0019189 |
disorder of asparagine metabolism | http://purl.obolibrary.org/obo/MONDO_0018318 | http://purl.obolibrary.org/obo/MONDO_0019189 |
Tumor Lysis Syndrome | http://www.ebi.ac.uk/efo/EFO_1001479 | http://www.ebi.ac.uk/efo/EFO_0000589 |
bilirubin metabolism disease | http://purl.obolibrary.org/obo/MONDO_0024431 | http://www.ebi.ac.uk/efo/EFO_0000589 |
xanthoma | http://www.ebi.ac.uk/efo/EFO_0003075 | http://www.ebi.ac.uk/efo/EFO_0000589 |
xanthinuria | http://purl.obolibrary.org/obo/MONDO_0000721 | http://www.ebi.ac.uk/efo/EFO_0000589 |
acquired xanthinuria | http://purl.obolibrary.org/obo/MONDO_0021180 | http://purl.obolibrary.org/obo/MONDO_0000721 |
lactic acidosis | http://www.ebi.ac.uk/efo/EFO_1000036 | http://www.ebi.ac.uk/efo/EFO_0000589 |
acquired lactic acidosis | http://purl.obolibrary.org/obo/MONDO_0024306 | http://www.ebi.ac.uk/efo/EFO_1000036 |
nutritional disorder | http://www.ebi.ac.uk/efo/EFO_0001069 | http://www.ebi.ac.uk/efo/EFO_0000589 |
nutritional deficiency disease | http://www.ebi.ac.uk/efo/EFO_1001067 | http://www.ebi.ac.uk/efo/EFO_0001069 |
potassium deficiency | http://www.ebi.ac.uk/efo/EFO_1001120 | http://www.ebi.ac.uk/efo/EFO_1001067 |
magnesium deficiency | http://www.ebi.ac.uk/efo/EFO_1001029 | http://www.ebi.ac.uk/efo/EFO_1001067 |
vitamin deficiency disorder | http://purl.obolibrary.org/obo/MONDO_0024298 | http://www.ebi.ac.uk/efo/EFO_1001067 |
scurvy | http://www.ebi.ac.uk/efo/EFO_1001169 | http://purl.obolibrary.org/obo/MONDO_0024298 |
vitamin A deficiency | http://www.ebi.ac.uk/efo/EFO_1001237 | http://purl.obolibrary.org/obo/MONDO_0024298 |
vitamin B deficiency | http://purl.obolibrary.org/obo/MONDO_0042976 | http://purl.obolibrary.org/obo/MONDO_0024298 |
vitamin B12 deficiency | http://www.ebi.ac.uk/efo/EFO_0000734 | http://purl.obolibrary.org/obo/MONDO_0042976 |
beriberi | http://www.ebi.ac.uk/efo/EFO_1000837 | http://purl.obolibrary.org/obo/MONDO_0042976 |
protein energy malnutrition | http://www.ebi.ac.uk/efo/EFO_0009563 | http://www.ebi.ac.uk/efo/EFO_1001067 |
marasmus | http://www.ebi.ac.uk/efo/EFO_1001033 | http://www.ebi.ac.uk/efo/EFO_0009563 |
kwashiorkor | http://www.ebi.ac.uk/efo/EFO_1001009 | http://www.ebi.ac.uk/efo/EFO_0009563 |
overnutrition | http://purl.obolibrary.org/obo/MONDO_0003916 | http://www.ebi.ac.uk/efo/EFO_0001069 |
obesity | http://www.ebi.ac.uk/efo/EFO_0001073 | http://purl.obolibrary.org/obo/MONDO_0003916 |
Truncal obesity | http://purl.obolibrary.org/obo/HP_0001956 | http://www.ebi.ac.uk/efo/EFO_0001073 |
morbid obesity | http://www.ebi.ac.uk/efo/EFO_0001074 | http://www.ebi.ac.uk/efo/EFO_0001073 |
metabolically healthy obesity | http://www.ebi.ac.uk/efo/EFO_0009382 | http://www.ebi.ac.uk/efo/EFO_0001073 |
hypervitaminosis A | http://www.ebi.ac.uk/efo/EFO_1000978 | http://purl.obolibrary.org/obo/MONDO_0003916 |
potassium deficiency disease | http://purl.obolibrary.org/obo/MONDO_0003019 | http://www.ebi.ac.uk/efo/EFO_0001069 |
malnutrition | http://www.ebi.ac.uk/efo/EFO_0008572 | http://www.ebi.ac.uk/efo/EFO_0001069 |
glutaric aciduria | http://purl.obolibrary.org/obo/MONDO_0000129 | http://www.ebi.ac.uk/efo/EFO_0000589 |
disorder of glycosylation | http://purl.obolibrary.org/obo/MONDO_0024322 | http://www.ebi.ac.uk/efo/EFO_0000589 |
disorder of GPI anchor biosynthesis | http://purl.obolibrary.org/obo/MONDO_0024321 | http://purl.obolibrary.org/obo/MONDO_0024322 |
methylmalonic aciduria (cobalamin deficiency) cblA type | http://www.ebi.ac.uk/efo/EFO_0009073 | http://www.ebi.ac.uk/efo/EFO_0000589 |
hepatic methionine adenosyltransferase deficiency | http://www.ebi.ac.uk/efo/EFO_0009069 | http://www.ebi.ac.uk/efo/EFO_0000589 |
disorder of acid-base balance | http://purl.obolibrary.org/obo/MONDO_0041261 | http://www.ebi.ac.uk/efo/EFO_0000589 |
diabetic nephropathy | http://www.ebi.ac.uk/efo/EFO_0000401 | http://www.ebi.ac.uk/efo/EFO_0000589 |
type 2 diabetes nephropathy | http://www.ebi.ac.uk/efo/EFO_0004997 | http://www.ebi.ac.uk/efo/EFO_0000401 |
type 1 diabetes nephropathy | http://www.ebi.ac.uk/efo/EFO_0004996 | http://www.ebi.ac.uk/efo/EFO_0000401 |
metabolic syndrome | http://www.ebi.ac.uk/efo/EFO_0000195 | http://www.ebi.ac.uk/efo/EFO_0000589 |
lipodystrophy | http://www.ebi.ac.uk/efo/EFO_1000727 | http://www.ebi.ac.uk/efo/EFO_0000589 |
partial lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0027767 | http://www.ebi.ac.uk/efo/EFO_1000727 |
generalized lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0027766 | http://www.ebi.ac.uk/efo/EFO_1000727 |
acquired lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0020089 | http://www.ebi.ac.uk/efo/EFO_1000727 |
susceptibility to partial acquired lipodystrophy | http://www.ebi.ac.uk/efo/EFO_0020027 | http://www.ebi.ac.uk/efo/EFO_1000727 |
mineral metabolism disease | http://www.ebi.ac.uk/efo/EFO_0009556 | http://www.ebi.ac.uk/efo/EFO_0000589 |
sulfur metabolism disease | http://purl.obolibrary.org/obo/MONDO_0056803 | http://www.ebi.ac.uk/efo/EFO_0009556 |
iron metabolism disease | http://purl.obolibrary.org/obo/MONDO_0002279 | http://www.ebi.ac.uk/efo/EFO_0009556 |
hemosiderosis | http://purl.obolibrary.org/obo/MONDO_0001436 | http://purl.obolibrary.org/obo/MONDO_0002279 |
phosphorus metabolism disease | http://purl.obolibrary.org/obo/MONDO_0002319 | http://www.ebi.ac.uk/efo/EFO_0009556 |
calcium metabolic disease | http://www.ebi.ac.uk/efo/EFO_0005769 | http://www.ebi.ac.uk/efo/EFO_0009556 |
hypercalcemia disease | http://purl.obolibrary.org/obo/MONDO_0001566 | http://www.ebi.ac.uk/efo/EFO_0005769 |
calcinosis | http://purl.obolibrary.org/obo/MONDO_0002123 | http://www.ebi.ac.uk/efo/EFO_0005769 |
nephrocalcinosis | http://purl.obolibrary.org/obo/MONDO_0001567 | http://purl.obolibrary.org/obo/MONDO_0002123 |
acquired mineral metabolism disease | http://purl.obolibrary.org/obo/MONDO_0024301 | http://www.ebi.ac.uk/efo/EFO_0009556 |
hemochromatosis | http://www.ebi.ac.uk/efo/EFO_1000642 | http://www.ebi.ac.uk/efo/EFO_0000589 |
acquired metabolic disease | http://www.ebi.ac.uk/efo/EFO_1000639 | http://www.ebi.ac.uk/efo/EFO_0000589 |
glucose metabolism disease | http://www.ebi.ac.uk/efo/EFO_0009406 | http://www.ebi.ac.uk/efo/EFO_0000589 |
injury | http://www.ebi.ac.uk/efo/EFO_0000546 | http://www.ebi.ac.uk/efo/EFO_0000408 |
spinal injury | http://purl.obolibrary.org/obo/MONDO_0037747 | http://www.ebi.ac.uk/efo/EFO_0000546 |
spinal fracture | http://www.ebi.ac.uk/efo/EFO_0003902 | http://purl.obolibrary.org/obo/MONDO_0037747 |
toxicity | http://www.ebi.ac.uk/efo/EFO_0011061 | http://www.ebi.ac.uk/efo/EFO_0000546 |
immune system toxicity | http://www.ebi.ac.uk/efo/EFO_0011053 | http://www.ebi.ac.uk/efo/EFO_0011061 |
musculoskeletal toxicity | http://www.ebi.ac.uk/efo/EFO_0011055 | http://www.ebi.ac.uk/efo/EFO_0011061 |
nephrotoxicity | http://www.ebi.ac.uk/efo/EFO_0011056 | http://www.ebi.ac.uk/efo/EFO_0011061 |
psychiatric toxicity | http://www.ebi.ac.uk/efo/EFO_0011059 | http://www.ebi.ac.uk/efo/EFO_0011061 |
vascular toxicity | http://www.ebi.ac.uk/efo/EFO_0011062 | http://www.ebi.ac.uk/efo/EFO_0011061 |
dermatological toxicity | http://www.ebi.ac.uk/efo/EFO_0011048 | http://www.ebi.ac.uk/efo/EFO_0011061 |
drug misuse | http://www.ebi.ac.uk/efo/EFO_0011049 | http://www.ebi.ac.uk/efo/EFO_0011061 |
overdose | http://www.ebi.ac.uk/efo/EFO_0020911 | http://www.ebi.ac.uk/efo/EFO_0011049 |
intentional overdose | http://www.ebi.ac.uk/efo/EFO_0020924 | http://www.ebi.ac.uk/efo/EFO_0020911 |
accidental overdose | http://www.ebi.ac.uk/efo/EFO_0020923 | http://www.ebi.ac.uk/efo/EFO_0020911 |
performance enhancing product use | http://www.ebi.ac.uk/efo/EFO_0020916 | http://www.ebi.ac.uk/efo/EFO_0011049 |
cardiotoxicity | http://www.ebi.ac.uk/efo/EFO_1001482 | http://www.ebi.ac.uk/efo/EFO_0011061 |
infectious disease | http://www.ebi.ac.uk/efo/EFO_0005741 | http://www.ebi.ac.uk/efo/EFO_0011061 |
infective vaginitis | http://purl.obolibrary.org/obo/MONDO_0023557 | http://www.ebi.ac.uk/efo/EFO_0005741 |
bacterial vaginosis | http://www.ebi.ac.uk/efo/EFO_0003932 | http://purl.obolibrary.org/obo/MONDO_0023557 |
vulvovaginal candidiasis | http://www.ebi.ac.uk/efo/EFO_0007543 | http://purl.obolibrary.org/obo/MONDO_0023557 |
Pinta | http://www.ebi.ac.uk/efo/EFO_1001396 | http://www.ebi.ac.uk/efo/EFO_0005741 |
Perimeningeal Infections | http://www.ebi.ac.uk/efo/EFO_1001392 | http://www.ebi.ac.uk/efo/EFO_0005741 |
Candidiasis, Invasive | http://www.ebi.ac.uk/efo/EFO_1001283 | http://www.ebi.ac.uk/efo/EFO_0005741 |
Candidemia | http://www.ebi.ac.uk/efo/EFO_1001282 | http://www.ebi.ac.uk/efo/EFO_1001283 |
Parvoviridae infectious disease | http://purl.obolibrary.org/obo/MONDO_0025371 | http://www.ebi.ac.uk/efo/EFO_0005741 |
aleutian mink disease | http://www.ebi.ac.uk/efo/EFO_0007139 | http://purl.obolibrary.org/obo/MONDO_0025371 |
erythema infectiosum | http://www.ebi.ac.uk/efo/EFO_1000693 | http://purl.obolibrary.org/obo/MONDO_0025371 |
zoonosis | http://purl.obolibrary.org/obo/MONDO_0025481 | http://www.ebi.ac.uk/efo/EFO_0005741 |
zoonotic bacterial infection | http://purl.obolibrary.org/obo/MONDO_0044746 | http://purl.obolibrary.org/obo/MONDO_0025481 |
anaplasmosis | http://purl.obolibrary.org/obo/MONDO_0025303 | http://purl.obolibrary.org/obo/MONDO_0044746 |
Prosthesis-Related Infections | http://www.ebi.ac.uk/efo/EFO_1001406 | http://www.ebi.ac.uk/efo/EFO_0005741 |
Puerperal Infection | http://www.ebi.ac.uk/efo/EFO_1001407 | http://www.ebi.ac.uk/efo/EFO_0005741 |
abscess | http://www.ebi.ac.uk/efo/EFO_0003030 | http://www.ebi.ac.uk/efo/EFO_0005741 |
Retropharyngeal Abscess | http://www.ebi.ac.uk/efo/EFO_1001415 | http://www.ebi.ac.uk/efo/EFO_0003030 |
subphrenic abscess | http://www.ebi.ac.uk/efo/EFO_1001854 | http://www.ebi.ac.uk/efo/EFO_0003030 |
Psoas abscess | http://www.ebi.ac.uk/efo/EFO_1001832 | http://www.ebi.ac.uk/efo/EFO_0003030 |
abdominal abscess | http://www.ebi.ac.uk/efo/EFO_1001753 | http://www.ebi.ac.uk/efo/EFO_0003030 |
infective endocarditis | http://purl.obolibrary.org/obo/MONDO_0000565 | http://www.ebi.ac.uk/efo/EFO_0005741 |
subacute bacterial endocarditis | http://www.ebi.ac.uk/efo/EFO_1001193 | http://purl.obolibrary.org/obo/MONDO_0000565 |
bacterial endocarditis | http://www.ebi.ac.uk/efo/EFO_1000830 | http://purl.obolibrary.org/obo/MONDO_0000565 |
parasitic infection | http://www.ebi.ac.uk/efo/EFO_0001067 | http://www.ebi.ac.uk/efo/EFO_0005741 |
Helminthiasis | http://www.ebi.ac.uk/efo/EFO_1001342 | http://www.ebi.ac.uk/efo/EFO_0001067 |
Fascioliasis | http://www.ebi.ac.uk/efo/EFO_1001324 | http://www.ebi.ac.uk/efo/EFO_1001342 |
Monieziasis | http://www.ebi.ac.uk/efo/EFO_1001372 | http://www.ebi.ac.uk/efo/EFO_1001342 |
Cestode infectious disease | http://purl.obolibrary.org/obo/MONDO_0042488 | http://www.ebi.ac.uk/efo/EFO_1001342 |
sparganosis | http://www.ebi.ac.uk/efo/EFO_0007488 | http://purl.obolibrary.org/obo/MONDO_0042488 |
diphyllobothriasis | http://www.ebi.ac.uk/efo/EFO_0007238 | http://purl.obolibrary.org/obo/MONDO_0042488 |
echinococcosis | http://www.ebi.ac.uk/efo/EFO_0007245 | http://purl.obolibrary.org/obo/MONDO_0042488 |
schistosomiasis | http://www.ebi.ac.uk/efo/EFO_1001475 | http://www.ebi.ac.uk/efo/EFO_1001342 |
urinary schistosomiasis | http://www.ebi.ac.uk/efo/EFO_0007530 | http://www.ebi.ac.uk/efo/EFO_1001475 |
Central Nervous System Helminthiasis | http://www.ebi.ac.uk/efo/EFO_1001773 | http://www.ebi.ac.uk/efo/EFO_1001342 |
filariasis | http://purl.obolibrary.org/obo/MONDO_0016075 | http://www.ebi.ac.uk/efo/EFO_1001342 |
mansonelliasis | http://www.ebi.ac.uk/efo/EFO_0007357 | http://purl.obolibrary.org/obo/MONDO_0016075 |
setariasis | http://www.ebi.ac.uk/efo/EFO_0007482 | http://purl.obolibrary.org/obo/MONDO_0016075 |
onchocerciasis | http://www.ebi.ac.uk/efo/EFO_0007402 | http://purl.obolibrary.org/obo/MONDO_0016075 |
dirofilariasis | http://www.ebi.ac.uk/efo/EFO_0007239 | http://purl.obolibrary.org/obo/MONDO_0016075 |
dipetalonemiasis | http://www.ebi.ac.uk/efo/EFO_0007237 | http://purl.obolibrary.org/obo/MONDO_0016075 |
dracunculiasis | http://www.ebi.ac.uk/efo/EFO_0007241 | http://purl.obolibrary.org/obo/MONDO_0016075 |
loiasis | http://www.ebi.ac.uk/efo/EFO_1000729 | http://purl.obolibrary.org/obo/MONDO_0016075 |
gnathomiasis | http://www.ebi.ac.uk/efo/EFO_0007289 | http://www.ebi.ac.uk/efo/EFO_1001342 |
Nematoda infectious disease | http://www.ebi.ac.uk/efo/EFO_0007391 | http://www.ebi.ac.uk/efo/EFO_1001342 |
Strongylida infectious disease | http://www.ebi.ac.uk/efo/EFO_0007500 | http://www.ebi.ac.uk/efo/EFO_0007391 |
trichostrongyloidiasis | http://www.ebi.ac.uk/efo/EFO_0007522 | http://www.ebi.ac.uk/efo/EFO_0007500 |
trichostrongylosis | http://www.ebi.ac.uk/efo/EFO_0007523 | http://www.ebi.ac.uk/efo/EFO_0007522 |
haemonchiasis | http://www.ebi.ac.uk/efo/EFO_0007293 | http://www.ebi.ac.uk/efo/EFO_0007522 |
ostertagiasis | http://www.ebi.ac.uk/efo/EFO_0007414 | http://www.ebi.ac.uk/efo/EFO_0007522 |
strongyloidiasis | http://www.ebi.ac.uk/efo/EFO_0007501 | http://www.ebi.ac.uk/efo/EFO_0007500 |
ancylostomiasis | http://www.ebi.ac.uk/efo/EFO_0007145 | http://www.ebi.ac.uk/efo/EFO_0007500 |
Enoplea infectious disease | http://www.ebi.ac.uk/efo/EFO_0007253 | http://www.ebi.ac.uk/efo/EFO_0007391 |
Rhabditida infectious disease | http://www.ebi.ac.uk/efo/EFO_0007468 | http://www.ebi.ac.uk/efo/EFO_0007391 |
enterobiasis | http://www.ebi.ac.uk/efo/EFO_0007254 | http://www.ebi.ac.uk/efo/EFO_0007468 |
Ascaridida infectious disease | http://www.ebi.ac.uk/efo/EFO_0007156 | http://www.ebi.ac.uk/efo/EFO_0007468 |
toxascariasis | http://www.ebi.ac.uk/efo/EFO_0007515 | http://www.ebi.ac.uk/efo/EFO_0007156 |
toxocariasis | http://www.ebi.ac.uk/efo/EFO_0007516 | http://www.ebi.ac.uk/efo/EFO_0007156 |
paragonimiasis | http://www.ebi.ac.uk/efo/EFO_0007418 | http://www.ebi.ac.uk/efo/EFO_1001342 |
opisthorchiasis | http://www.ebi.ac.uk/efo/EFO_0007404 | http://www.ebi.ac.uk/efo/EFO_1001342 |
Euglenozoa Infections | http://www.ebi.ac.uk/efo/EFO_1001319 | http://www.ebi.ac.uk/efo/EFO_0001067 |
Cestode Infections | http://www.ebi.ac.uk/efo/EFO_1001287 | http://www.ebi.ac.uk/efo/EFO_0001067 |
Trematode Infections | http://www.ebi.ac.uk/efo/EFO_1001438 | http://www.ebi.ac.uk/efo/EFO_0001067 |
Schistosomiasis mansoni | http://www.ebi.ac.uk/efo/EFO_1001420 | http://www.ebi.ac.uk/efo/EFO_0001067 |
Schistosomiasis japonica | http://www.ebi.ac.uk/efo/EFO_1001419 | http://www.ebi.ac.uk/efo/EFO_0001067 |
Pythiosis | http://www.ebi.ac.uk/efo/EFO_1001410 | http://www.ebi.ac.uk/efo/EFO_0001067 |
parasitic skin disorder | http://purl.obolibrary.org/obo/MONDO_0024610 | http://www.ebi.ac.uk/efo/EFO_0001067 |
cutaneous Leishmaniasis | http://www.ebi.ac.uk/efo/EFO_0005046 | http://purl.obolibrary.org/obo/MONDO_0024610 |
diffuse cutaneous Leishmaniasis | http://www.ebi.ac.uk/efo/EFO_1001784 | http://www.ebi.ac.uk/efo/EFO_0005046 |
parasitic ectoparasitic infectious disease | http://purl.obolibrary.org/obo/MONDO_0002875 | http://purl.obolibrary.org/obo/MONDO_0024610 |
lice infestation | http://purl.obolibrary.org/obo/MONDO_0003472 | http://purl.obolibrary.org/obo/MONDO_0002875 |
Tungiasis | http://www.ebi.ac.uk/efo/EFO_1001445 | http://purl.obolibrary.org/obo/MONDO_0002875 |
tick infestation | http://www.ebi.ac.uk/efo/EFO_0007508 | http://purl.obolibrary.org/obo/MONDO_0002875 |
mite infestation | http://purl.obolibrary.org/obo/MONDO_0004389 | http://purl.obolibrary.org/obo/MONDO_0002875 |
trombiculiasis | http://www.ebi.ac.uk/efo/EFO_0007526 | http://purl.obolibrary.org/obo/MONDO_0004389 |
myiasis | http://www.ebi.ac.uk/efo/EFO_0007389 | http://purl.obolibrary.org/obo/MONDO_0002875 |
hypodermyiasis | http://www.ebi.ac.uk/efo/EFO_0007320 | http://www.ebi.ac.uk/efo/EFO_0007389 |
screw worm infectious disease | http://www.ebi.ac.uk/efo/EFO_0007479 | http://www.ebi.ac.uk/efo/EFO_0007389 |
trichinosis | http://www.ebi.ac.uk/efo/EFO_0007520 | http://www.ebi.ac.uk/efo/EFO_0001067 |
protozoa infectious disease | http://purl.obolibrary.org/obo/MONDO_0002428 | http://www.ebi.ac.uk/efo/EFO_0001067 |
trichomoniasis | http://purl.obolibrary.org/obo/DOID_1947 | http://purl.obolibrary.org/obo/MONDO_0002428 |
Trichomonas vaginitis | http://www.ebi.ac.uk/efo/EFO_0007521 | http://purl.obolibrary.org/obo/DOID_1947 |
trypanosomiasis | http://purl.obolibrary.org/obo/DOID_10113 | http://purl.obolibrary.org/obo/MONDO_0002428 |
Chagas disease | http://purl.obolibrary.org/obo/MONDO_0001444 | http://purl.obolibrary.org/obo/DOID_10113 |
American trypanosomiasis | http://www.ebi.ac.uk/efo/EFO_0008559 | http://purl.obolibrary.org/obo/DOID_10113 |
Chagas cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0005529 | http://www.ebi.ac.uk/efo/EFO_0008559 |
human african trypanosomiasis | http://www.ebi.ac.uk/efo/EFO_0005225 | http://purl.obolibrary.org/obo/DOID_10113 |
theileriasis | http://www.ebi.ac.uk/efo/EFO_0007506 | http://purl.obolibrary.org/obo/MONDO_0002428 |
Leishmaniasis | http://www.ebi.ac.uk/efo/EFO_0005044 | http://purl.obolibrary.org/obo/MONDO_0002428 |
visceral Leishmaniasis | http://www.ebi.ac.uk/efo/EFO_0005045 | http://www.ebi.ac.uk/efo/EFO_0005044 |
mucocutaneous Leishmaniasis | http://www.ebi.ac.uk/efo/EFO_0007379 | http://www.ebi.ac.uk/efo/EFO_0005044 |
babesiosis | http://www.ebi.ac.uk/efo/EFO_0007162 | http://purl.obolibrary.org/obo/MONDO_0002428 |
amebiasis | http://www.ebi.ac.uk/efo/EFO_0007144 | http://purl.obolibrary.org/obo/MONDO_0002428 |
parasitic Ichthyosporea infectious disease | http://purl.obolibrary.org/obo/MONDO_0000307 | http://www.ebi.ac.uk/efo/EFO_0001067 |
rhinosporidiosis | http://www.ebi.ac.uk/efo/EFO_0007471 | http://purl.obolibrary.org/obo/MONDO_0000307 |
microsporidiosis | http://www.ebi.ac.uk/efo/EFO_0007366 | http://www.ebi.ac.uk/efo/EFO_0001067 |
encephalitozoonosis | http://www.ebi.ac.uk/efo/EFO_0007250 | http://www.ebi.ac.uk/efo/EFO_0007366 |
coccidioidomycosis | http://www.ebi.ac.uk/efo/EFO_0007211 | http://www.ebi.ac.uk/efo/EFO_0001067 |
cryptococcosis | http://www.ebi.ac.uk/efo/EFO_0007229 | http://www.ebi.ac.uk/efo/EFO_0001067 |
skin disorder caused by infection | http://purl.obolibrary.org/obo/MONDO_0024294 | http://www.ebi.ac.uk/efo/EFO_0005741 |
Herpes Zoster | http://www.ebi.ac.uk/efo/EFO_0006510 | http://purl.obolibrary.org/obo/MONDO_0024294 |
Zoster Sine Herpete | http://www.ebi.ac.uk/efo/EFO_1001453 | http://www.ebi.ac.uk/efo/EFO_0006510 |
skin infection | http://purl.obolibrary.org/obo/MONDO_0021201 | http://purl.obolibrary.org/obo/MONDO_0024294 |
erysipelas | http://www.ebi.ac.uk/efo/EFO_1001462 | http://purl.obolibrary.org/obo/MONDO_0021201 |
tinea | http://www.ebi.ac.uk/efo/EFO_0007510 | http://purl.obolibrary.org/obo/MONDO_0021201 |
cutaneous candidiasis | http://purl.obolibrary.org/obo/MONDO_0000879 | http://www.ebi.ac.uk/efo/EFO_0007510 |
tinea favosa | http://www.ebi.ac.uk/efo/EFO_0007511 | http://www.ebi.ac.uk/efo/EFO_0007510 |
dermatophytosis | http://purl.obolibrary.org/obo/MONDO_0004678 | http://www.ebi.ac.uk/efo/EFO_0007510 |
tinea pedis | http://www.ebi.ac.uk/efo/EFO_0007512 | http://purl.obolibrary.org/obo/MONDO_0004678 |
eumycotic mycetoma | http://www.ebi.ac.uk/efo/EFO_0007265 | http://www.ebi.ac.uk/efo/EFO_0007510 |
pityriasis versicolor | http://www.ebi.ac.uk/efo/EFO_0007439 | http://www.ebi.ac.uk/efo/EFO_0007510 |
Exanthema Subitum | http://www.ebi.ac.uk/efo/EFO_1001320 | http://purl.obolibrary.org/obo/MONDO_0024294 |
skin disease caused by bacterial infection | http://purl.obolibrary.org/obo/MONDO_0024295 | http://purl.obolibrary.org/obo/MONDO_0024294 |
cellulitis | http://www.ebi.ac.uk/efo/EFO_0003035 | http://purl.obolibrary.org/obo/MONDO_0024295 |
anaerobic cellulitis | http://purl.obolibrary.org/obo/MONDO_0024414 | http://www.ebi.ac.uk/efo/EFO_0003035 |
gas gangrene | http://www.ebi.ac.uk/efo/EFO_0007279 | http://purl.obolibrary.org/obo/MONDO_0024295 |
Ritter's disease | http://www.ebi.ac.uk/efo/EFO_0007473 | http://purl.obolibrary.org/obo/MONDO_0024295 |
bacterial exanthem | http://www.ebi.ac.uk/efo/EFO_1000671 | http://purl.obolibrary.org/obo/MONDO_0024295 |
cutaneous syphilis | http://www.ebi.ac.uk/efo/EFO_1000887 | http://purl.obolibrary.org/obo/MONDO_0024295 |
hand, foot and mouth disease | http://www.ebi.ac.uk/efo/EFO_0007294 | http://purl.obolibrary.org/obo/MONDO_0024294 |
chickenpox | http://www.ebi.ac.uk/efo/EFO_0007204 | http://purl.obolibrary.org/obo/MONDO_0024294 |
hemorrhagic fever | http://purl.obolibrary.org/obo/MONDO_0600002 | http://www.ebi.ac.uk/efo/EFO_0005741 |
bacterial hemorrhagic fever | http://purl.obolibrary.org/obo/MONDO_0600003 | http://purl.obolibrary.org/obo/MONDO_0600002 |
scrub typhus | http://www.ebi.ac.uk/efo/EFO_0007480 | http://purl.obolibrary.org/obo/MONDO_0600003 |
viral hemorrhagic fever | http://purl.obolibrary.org/obo/MONDO_0018087 | http://purl.obolibrary.org/obo/MONDO_0600002 |
Dengue Hemorrhagic Fever | http://www.ebi.ac.uk/efo/EFO_0004227 | http://purl.obolibrary.org/obo/MONDO_0018087 |
hemorrhagic fever with renal syndrome | http://www.ebi.ac.uk/efo/EFO_0007299 | http://purl.obolibrary.org/obo/MONDO_0018087 |
Marburg hemorrhagic fever | http://www.ebi.ac.uk/efo/EFO_0007358 | http://purl.obolibrary.org/obo/MONDO_0018087 |
Arenavirus hemorrhagic fever | http://www.ebi.ac.uk/efo/EFO_0007151 | http://purl.obolibrary.org/obo/MONDO_0018087 |
Lassa fever | http://www.ebi.ac.uk/efo/EFO_0007338 | http://www.ebi.ac.uk/efo/EFO_0007151 |
Ebola hemorrhagic fever | http://www.ebi.ac.uk/efo/EFO_0007243 | http://purl.obolibrary.org/obo/MONDO_0018087 |
infectious, fungal or parasitic myopathy | http://purl.obolibrary.org/obo/MONDO_0016125 | http://www.ebi.ac.uk/efo/EFO_0005741 |
bacterial myositis | http://purl.obolibrary.org/obo/MONDO_0016127 | http://purl.obolibrary.org/obo/MONDO_0016125 |
Pyomyositis | http://www.ebi.ac.uk/efo/EFO_1001409 | http://purl.obolibrary.org/obo/MONDO_0016127 |
viral disease | http://www.ebi.ac.uk/efo/EFO_0000763 | http://www.ebi.ac.uk/efo/EFO_0005741 |
Flavivirus Infections | http://www.ebi.ac.uk/efo/EFO_1001326 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Deltaretrovirus Infections | http://www.ebi.ac.uk/efo/EFO_1001303 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Pneumovirus Infections | http://www.ebi.ac.uk/efo/EFO_1001401 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Circoviridae Infections | http://www.ebi.ac.uk/efo/EFO_1001292 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Arbovirus Infections | http://www.ebi.ac.uk/efo/EFO_1001269 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Adenoviridae Infections | http://www.ebi.ac.uk/efo/EFO_1001259 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Chikungunya encephalitis | http://www.ebi.ac.uk/efo/EFO_0008494 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Birnaviridae Infections | http://www.ebi.ac.uk/efo/EFO_1001764 | http://www.ebi.ac.uk/efo/EFO_0000763 |
animal viral hepatitis | http://www.ebi.ac.uk/efo/EFO_0007540 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Hibiscus chlorotic ringspot virus infection | http://www.ebi.ac.uk/efo/EFO_0000782 | http://www.ebi.ac.uk/efo/EFO_0000763 |
disease arising from reactivation of latent virus | http://purl.obolibrary.org/obo/MONDO_0100330 | http://www.ebi.ac.uk/efo/EFO_0000763 |
genital herpes | http://www.ebi.ac.uk/efo/EFO_0007282 | http://purl.obolibrary.org/obo/MONDO_0100330 |
cytomegalovirus virus reactivation | http://www.ebi.ac.uk/efo/EFO_0020106 | http://purl.obolibrary.org/obo/MONDO_0100330 |
primary viral infectious disease | http://purl.obolibrary.org/obo/MONDO_0100329 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Lentivirus Infections | http://www.ebi.ac.uk/efo/EFO_1001357 | http://purl.obolibrary.org/obo/MONDO_0100329 |
simian immunodeficiency virus infection | http://www.ebi.ac.uk/efo/EFO_0001675 | http://www.ebi.ac.uk/efo/EFO_1001357 |
HIV infection | http://www.ebi.ac.uk/efo/EFO_0000764 | http://www.ebi.ac.uk/efo/EFO_1001357 |
HIV-Associated Lipodystrophy Syndrome | http://www.ebi.ac.uk/efo/EFO_1001348 | http://www.ebi.ac.uk/efo/EFO_0000764 |
AIDS | http://www.ebi.ac.uk/efo/EFO_0000765 | http://www.ebi.ac.uk/efo/EFO_0000764 |
HIV-1 infection | http://www.ebi.ac.uk/efo/EFO_0000180 | http://www.ebi.ac.uk/efo/EFO_0000764 |
AIDS related complex | http://www.ebi.ac.uk/efo/EFO_0007137 | http://www.ebi.ac.uk/efo/EFO_0000764 |
AIDS-related disease | http://www.ebi.ac.uk/efo/EFO_0009528 | http://www.ebi.ac.uk/efo/EFO_0000764 |
HIV enteropathy | http://www.ebi.ac.uk/efo/EFO_0007311 | http://www.ebi.ac.uk/efo/EFO_0009528 |
HIV wasting syndrome | http://www.ebi.ac.uk/efo/EFO_0007312 | http://www.ebi.ac.uk/efo/EFO_0009528 |
HIV-associated nephropathy | http://www.ebi.ac.uk/efo/EFO_0007313 | http://www.ebi.ac.uk/efo/EFO_0009528 |
deltaretrovirus infections | http://purl.obolibrary.org/obo/MONDO_0021184 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Human T-lymphotropic virus 2 infectious disease | http://www.ebi.ac.uk/efo/EFO_1001349 | http://purl.obolibrary.org/obo/MONDO_0021184 |
human papilloma virus infection | http://www.ebi.ac.uk/efo/EFO_0001668 | http://purl.obolibrary.org/obo/MONDO_0100329 |
chronic human papillomavirus infection | http://www.ebi.ac.uk/efo/EFO_0010060 | http://www.ebi.ac.uk/efo/EFO_0001668 |
anogenital venereal wart | http://www.ebi.ac.uk/efo/EFO_0007147 | http://www.ebi.ac.uk/efo/EFO_0001668 |
rubella | http://www.ebi.ac.uk/efo/EFO_1002026 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Togaviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007513 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Alphavirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007142 | http://www.ebi.ac.uk/efo/EFO_0007513 |
smallpox | http://purl.obolibrary.org/obo/MONDO_0004651 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Flaviviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007274 | http://purl.obolibrary.org/obo/MONDO_0100329 |
dengue disease | http://www.ebi.ac.uk/efo/EFO_0005547 | http://www.ebi.ac.uk/efo/EFO_0007274 |
West Nile fever | http://purl.obolibrary.org/obo/MONDO_0002282 | http://www.ebi.ac.uk/efo/EFO_0007274 |
Zika virus infectious disease | http://purl.obolibrary.org/obo/MONDO_0018661 | http://www.ebi.ac.uk/efo/EFO_0007274 |
Pestivirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007432 | http://www.ebi.ac.uk/efo/EFO_0007274 |
Herpesviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007309 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Varicella Zoster infection | http://www.ebi.ac.uk/efo/EFO_0006509 | http://www.ebi.ac.uk/efo/EFO_0007309 |
Herpes Labialis | http://www.ebi.ac.uk/efo/EFO_1001347 | http://www.ebi.ac.uk/efo/EFO_0007309 |
Herpes simplex infection | http://www.ebi.ac.uk/efo/EFO_1002022 | http://www.ebi.ac.uk/efo/EFO_0007309 |
cytomegalovirus infection | http://www.ebi.ac.uk/efo/EFO_0001062 | http://www.ebi.ac.uk/efo/EFO_0007309 |
Epstein-Barr virus infection | http://www.ebi.ac.uk/efo/EFO_0000769 | http://www.ebi.ac.uk/efo/EFO_0007309 |
infectious mononucleosis | http://www.ebi.ac.uk/efo/EFO_0007326 | http://www.ebi.ac.uk/efo/EFO_0000769 |
human herpesvirus 8 infection | http://www.ebi.ac.uk/efo/EFO_0002612 | http://www.ebi.ac.uk/efo/EFO_0007309 |
Roseolovirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007474 | http://www.ebi.ac.uk/efo/EFO_0007309 |
Hepadnaviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007301 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Nidovirales infectious disease | http://www.ebi.ac.uk/efo/EFO_0007396 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Torovirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007514 | http://www.ebi.ac.uk/efo/EFO_0007396 |
Arterivirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007152 | http://www.ebi.ac.uk/efo/EFO_0007396 |
Coronaviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007223 | http://www.ebi.ac.uk/efo/EFO_0007396 |
Orthocoronavirinae infectious disease | http://purl.obolibrary.org/obo/MONDO_0020753 | http://www.ebi.ac.uk/efo/EFO_0007223 |
COVID-19 | http://purl.obolibrary.org/obo/MONDO_0100096 | http://purl.obolibrary.org/obo/MONDO_0020753 |
coronavirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007224 | http://www.ebi.ac.uk/efo/EFO_0007223 |
Mononegavirales infectious disease | http://www.ebi.ac.uk/efo/EFO_0007376 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Filoviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007273 | http://www.ebi.ac.uk/efo/EFO_0007376 |
Rhabdoviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007469 | http://www.ebi.ac.uk/efo/EFO_0007376 |
Paramyxoviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007419 | http://www.ebi.ac.uk/efo/EFO_0007376 |
Henipavirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007300 | http://www.ebi.ac.uk/efo/EFO_0007419 |
Morbillivirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007377 | http://www.ebi.ac.uk/efo/EFO_0007419 |
measles | http://www.ebi.ac.uk/efo/EFO_1002025 | http://www.ebi.ac.uk/efo/EFO_0007377 |
Mumps virus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007383 | http://www.ebi.ac.uk/efo/EFO_0007419 |
Respirovirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007465 | http://www.ebi.ac.uk/efo/EFO_0007419 |
Avulavirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007161 | http://www.ebi.ac.uk/efo/EFO_0007419 |
Polyomavirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007451 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Reoviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007464 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Phlebotomus fever | http://www.ebi.ac.uk/efo/EFO_0007437 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Picornaviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007438 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Enterovirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007255 | http://www.ebi.ac.uk/efo/EFO_0007438 |
poliovirus infection | http://purl.obolibrary.org/obo/MONDO_0024618 | http://www.ebi.ac.uk/efo/EFO_0007255 |
echovirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007247 | http://www.ebi.ac.uk/efo/EFO_0007255 |
coxsackievirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007226 | http://www.ebi.ac.uk/efo/EFO_0007255 |
Cardiovirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007194 | http://www.ebi.ac.uk/efo/EFO_0007438 |
viral sexually transmitted disease | http://purl.obolibrary.org/obo/MONDO_0021682 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Bunyaviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007188 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Hantavirus infectious disease | http://www.ebi.ac.uk/efo/EFO_0007295 | http://www.ebi.ac.uk/efo/EFO_0007188 |
hantavirus hemorrhagic fever with renal syndrome | http://purl.obolibrary.org/obo/MONDO_0005784 | http://www.ebi.ac.uk/efo/EFO_0007295 |
BK-virus nephropathy | http://purl.obolibrary.org/obo/MONDO_0022529 | http://purl.obolibrary.org/obo/MONDO_0005784 |
Caliciviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007189 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Astroviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007158 | http://purl.obolibrary.org/obo/MONDO_0100329 |
Arenaviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007150 | http://purl.obolibrary.org/obo/MONDO_0100329 |
lassa virus infectious disease | http://purl.obolibrary.org/obo/MONDO_0044750 | http://www.ebi.ac.uk/efo/EFO_0007150 |
cowpox | http://www.ebi.ac.uk/efo/EFO_0007225 | http://purl.obolibrary.org/obo/MONDO_0100329 |
epidemic pleurodynia | http://www.ebi.ac.uk/efo/EFO_0007259 | http://www.ebi.ac.uk/efo/EFO_0000763 |
lumpy skin disease | http://www.ebi.ac.uk/efo/EFO_0007349 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Human T-lymphotropic virus 1 infectious disease | http://www.ebi.ac.uk/efo/EFO_0007316 | http://www.ebi.ac.uk/efo/EFO_0000763 |
herpangina | http://www.ebi.ac.uk/efo/EFO_0007306 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Newcastle disease | http://www.ebi.ac.uk/efo/EFO_0007395 | http://www.ebi.ac.uk/efo/EFO_0000763 |
molluscum contagiosum | http://www.ebi.ac.uk/efo/EFO_0007375 | http://www.ebi.ac.uk/efo/EFO_0000763 |
milker's nodule | http://www.ebi.ac.uk/efo/EFO_0007370 | http://www.ebi.ac.uk/efo/EFO_0000763 |
pharyngoconjunctival fever | http://www.ebi.ac.uk/efo/EFO_0007434 | http://www.ebi.ac.uk/efo/EFO_0000763 |
peste des petits ruminants infectious disease | http://www.ebi.ac.uk/efo/EFO_0007431 | http://www.ebi.ac.uk/efo/EFO_0000763 |
Orthomyxoviridae infectious disease | http://www.ebi.ac.uk/efo/EFO_0007411 | http://www.ebi.ac.uk/efo/EFO_0000763 |
contagious pustular dermatitis | http://www.ebi.ac.uk/efo/EFO_0007222 | http://www.ebi.ac.uk/efo/EFO_0000763 |
mosquito-borne hemorragic fever | http://www.ebi.ac.uk/efo/EFO_0009575 | http://www.ebi.ac.uk/efo/EFO_0000763 |
bacterial disease | http://www.ebi.ac.uk/efo/EFO_0000771 | http://www.ebi.ac.uk/efo/EFO_0005741 |
meningococcal infection | http://www.ebi.ac.uk/efo/EFO_0004249 | http://www.ebi.ac.uk/efo/EFO_0000771 |
primary Haemophilus infectious disease | http://www.ebi.ac.uk/efo/EFO_1001127 | http://www.ebi.ac.uk/efo/EFO_0000771 |
rat-bite fever | http://www.ebi.ac.uk/efo/EFO_1001144 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Proteus infectious disease | http://www.ebi.ac.uk/efo/EFO_1001130 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Klebsiella Infections | http://www.ebi.ac.uk/efo/EFO_1001353 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Flavobacteriaceae Infections | http://www.ebi.ac.uk/efo/EFO_1001327 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Escherichia coli Infections | http://www.ebi.ac.uk/efo/EFO_1001318 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Enterobacteriaceae Infections | http://www.ebi.ac.uk/efo/EFO_1001313 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Piscirickettsiaceae Infections | http://www.ebi.ac.uk/efo/EFO_1001397 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Pasteurellaceae Infections | http://www.ebi.ac.uk/efo/EFO_1001386 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Mycoplasmatales Infections | http://www.ebi.ac.uk/efo/EFO_1001374 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Neisseriaceae Infections | http://www.ebi.ac.uk/efo/EFO_1001377 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Yersinia infectious disease | http://www.ebi.ac.uk/efo/EFO_1001245 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Yersinia pseudotuberculosis infectious disease | http://www.ebi.ac.uk/efo/EFO_1001246 | http://www.ebi.ac.uk/efo/EFO_1001245 |
Yersinia pestis infectious disease | http://www.ebi.ac.uk/efo/EFO_0009425 | http://www.ebi.ac.uk/efo/EFO_1001245 |
Yersinia enterocolitica infectious disease | http://www.ebi.ac.uk/efo/EFO_0009424 | http://www.ebi.ac.uk/efo/EFO_1001245 |
commensal Bifidobacteriales infectious disease | http://www.ebi.ac.uk/efo/EFO_1000873 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Mycobacterium infection | http://www.ebi.ac.uk/efo/EFO_0009429 | http://www.ebi.ac.uk/efo/EFO_0000771 |
heartwater disease | http://www.ebi.ac.uk/efo/EFO_1000960 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Spirochaetales Infections | http://www.ebi.ac.uk/efo/EFO_0009567 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Treponema infectious disease | http://www.ebi.ac.uk/efo/EFO_1001217 | http://www.ebi.ac.uk/efo/EFO_0009567 |
syphilis | http://www.ebi.ac.uk/efo/EFO_0007504 | http://www.ebi.ac.uk/efo/EFO_1001217 |
chancre | http://www.ebi.ac.uk/efo/EFO_1001247 | http://www.ebi.ac.uk/efo/EFO_0007504 |
syphilitic aortitis | http://www.ebi.ac.uk/efo/EFO_1001206 | http://www.ebi.ac.uk/efo/EFO_0007504 |
yaws | http://www.ebi.ac.uk/efo/EFO_0007548 | http://www.ebi.ac.uk/efo/EFO_0007504 |
tertiary syphilis | http://purl.obolibrary.org/obo/MONDO_0004497 | http://www.ebi.ac.uk/efo/EFO_0007504 |
neurosyphilis | http://purl.obolibrary.org/obo/MONDO_0004944 | http://purl.obolibrary.org/obo/MONDO_0004497 |
latent syphilis | http://www.ebi.ac.uk/efo/EFO_0007340 | http://www.ebi.ac.uk/efo/EFO_0007504 |
leptospirosis | http://www.ebi.ac.uk/efo/EFO_0007344 | http://www.ebi.ac.uk/efo/EFO_0009567 |
Borrelia infectious disease | http://www.ebi.ac.uk/efo/EFO_1000842 | http://www.ebi.ac.uk/efo/EFO_0009567 |
Lyme disease | http://www.ebi.ac.uk/efo/EFO_0008510 | http://www.ebi.ac.uk/efo/EFO_1000842 |
Actinobacillus infectious disease | http://www.ebi.ac.uk/efo/EFO_1000793 | http://www.ebi.ac.uk/efo/EFO_0000771 |
actinobacillosis | http://www.ebi.ac.uk/efo/EFO_0007127 | http://www.ebi.ac.uk/efo/EFO_0000771 |
gram-negative bacterial infections | http://purl.obolibrary.org/obo/MONDO_0021678 | http://www.ebi.ac.uk/efo/EFO_0000771 |
bordetellosis | http://purl.obolibrary.org/obo/MONDO_0037872 | http://purl.obolibrary.org/obo/MONDO_0021678 |
primary Bartonellaceae infectious disease | http://www.ebi.ac.uk/efo/EFO_1001125 | http://purl.obolibrary.org/obo/MONDO_0021678 |
bartonellosis | http://www.ebi.ac.uk/efo/EFO_0007166 | http://www.ebi.ac.uk/efo/EFO_1001125 |
trench fever | http://www.ebi.ac.uk/efo/EFO_0007519 | http://www.ebi.ac.uk/efo/EFO_0007166 |
cat-scratch disease | http://www.ebi.ac.uk/efo/EFO_0007195 | http://www.ebi.ac.uk/efo/EFO_0007166 |
primary Fusobacteriaceae infectious disease | http://www.ebi.ac.uk/efo/EFO_1001126 | http://purl.obolibrary.org/obo/MONDO_0021678 |
Fusobacterium infectious disease | http://www.ebi.ac.uk/efo/EFO_1000943 | http://www.ebi.ac.uk/efo/EFO_1001126 |
Rickettsiaceae infectious disease | http://www.ebi.ac.uk/efo/EFO_1001128 | http://purl.obolibrary.org/obo/MONDO_0021678 |
primary Anaplasmataceae infectious disease | http://www.ebi.ac.uk/efo/EFO_1001123 | http://www.ebi.ac.uk/efo/EFO_1001128 |
ehrlichiosis | http://purl.obolibrary.org/obo/MONDO_0016003 | http://www.ebi.ac.uk/efo/EFO_1001123 |
spotted fever | http://www.ebi.ac.uk/efo/EFO_1002047 | http://www.ebi.ac.uk/efo/EFO_1001128 |
boutonneuse fever | http://www.ebi.ac.uk/efo/EFO_0007179 | http://www.ebi.ac.uk/efo/EFO_1002047 |
typhus | http://www.ebi.ac.uk/efo/EFO_0009117 | http://www.ebi.ac.uk/efo/EFO_1001128 |
epidemic louse-borne typhus | http://purl.obolibrary.org/obo/MONDO_0019362 | http://www.ebi.ac.uk/efo/EFO_0009117 |
Brill-Zinsser disease | http://www.ebi.ac.uk/efo/EFO_0007182 | http://purl.obolibrary.org/obo/MONDO_0019362 |
rickettsiosis | http://www.ebi.ac.uk/efo/EFO_1001162 | http://purl.obolibrary.org/obo/MONDO_0021678 |
opportunistic Moraxellaceae infectious disease | http://www.ebi.ac.uk/efo/EFO_1001072 | http://purl.obolibrary.org/obo/MONDO_0021678 |
Acinetobacter infectious disease | http://www.ebi.ac.uk/efo/EFO_1000792 | http://www.ebi.ac.uk/efo/EFO_1001072 |
Chlamydiaceae Infections | http://www.ebi.ac.uk/efo/EFO_1001288 | http://purl.obolibrary.org/obo/MONDO_0021678 |
Chlamydophila infectious disease | http://www.ebi.ac.uk/efo/EFO_1000863 | http://www.ebi.ac.uk/efo/EFO_1001288 |
Chlamydia trachomatis infectious disease | http://www.ebi.ac.uk/efo/EFO_0007205 | http://www.ebi.ac.uk/efo/EFO_1000863 |
lymphogranuloma venereum | http://www.ebi.ac.uk/efo/EFO_0007353 | http://www.ebi.ac.uk/efo/EFO_0007205 |
burkholderia infectious disease | http://purl.obolibrary.org/obo/MONDO_0043953 | http://purl.obolibrary.org/obo/MONDO_0021678 |
glanders | http://www.ebi.ac.uk/efo/EFO_0007286 | http://purl.obolibrary.org/obo/MONDO_0043953 |
serum lipopolysaccharide activity | http://www.ebi.ac.uk/efo/EFO_0600064 | http://purl.obolibrary.org/obo/MONDO_0021678 |
Helicobacter pylori infectious disease | http://www.ebi.ac.uk/efo/EFO_1000961 | http://purl.obolibrary.org/obo/MONDO_0021678 |
commensal Bacteroidaceae infectious disease | http://www.ebi.ac.uk/efo/EFO_1000872 | http://purl.obolibrary.org/obo/MONDO_0021678 |
Bacteroides infectious disease | http://www.ebi.ac.uk/efo/EFO_1000832 | http://www.ebi.ac.uk/efo/EFO_1000872 |
commensal Desulfovibrionaceae infectious disease | http://www.ebi.ac.uk/efo/EFO_1000875 | http://purl.obolibrary.org/obo/MONDO_0021678 |
gram-positive bacterial infections | http://purl.obolibrary.org/obo/MONDO_0021679 | http://www.ebi.ac.uk/efo/EFO_0000771 |
primary Actinomycetales infectious disease | http://www.ebi.ac.uk/efo/EFO_1001122 | http://purl.obolibrary.org/obo/MONDO_0021679 |
actinomycosis | http://www.ebi.ac.uk/efo/EFO_0007128 | http://www.ebi.ac.uk/efo/EFO_1001122 |
primary Bacillaceae infectious disease | http://www.ebi.ac.uk/efo/EFO_1001124 | http://purl.obolibrary.org/obo/MONDO_0021679 |
anthrax infection | http://www.ebi.ac.uk/efo/EFO_0000778 | http://www.ebi.ac.uk/efo/EFO_1001124 |
streptococcal infection | http://www.ebi.ac.uk/efo/EFO_1001476 | http://purl.obolibrary.org/obo/MONDO_0021679 |
streptococcal pharyngitis | http://www.ebi.ac.uk/efo/EFO_1002024 | http://www.ebi.ac.uk/efo/EFO_1001476 |
pneumococcal infection | http://www.ebi.ac.uk/efo/EFO_0000772 | http://www.ebi.ac.uk/efo/EFO_1001476 |
pneumococcal pneumonia | http://www.ebi.ac.uk/efo/EFO_1001474 | http://www.ebi.ac.uk/efo/EFO_0000772 |
Erysipelothrix infectious disease | http://purl.obolibrary.org/obo/MONDO_0006751 | http://purl.obolibrary.org/obo/MONDO_0021679 |
Erysipelothrix rhusiopathiae infectious disease | http://www.ebi.ac.uk/efo/EFO_1000928 | http://purl.obolibrary.org/obo/MONDO_0006751 |
commensal Clostridium infectious disease | http://www.ebi.ac.uk/efo/EFO_1000874 | http://purl.obolibrary.org/obo/MONDO_0021679 |
infection due to clostridium perfringens | http://purl.obolibrary.org/obo/MONDO_0023149 | http://www.ebi.ac.uk/efo/EFO_1000874 |
pasteurellosis | http://www.ebi.ac.uk/efo/EFO_0007424 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Pasteurella multocida infectious disease | http://purl.obolibrary.org/obo/MONDO_0040998 | http://www.ebi.ac.uk/efo/EFO_0007424 |
Pasteurella hemorrhagic septicemia | http://www.ebi.ac.uk/efo/EFO_1001091 | http://purl.obolibrary.org/obo/MONDO_0040998 |
pneumonic pasteurellosis | http://www.ebi.ac.uk/efo/EFO_0007449 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Aeromonas hydrophila infection | http://www.ebi.ac.uk/efo/EFO_0000776 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Enterococcus faecalis infection | http://www.ebi.ac.uk/efo/EFO_0000780 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Pectobacterium carotovorum infection | http://www.ebi.ac.uk/efo/EFO_0000781 | http://www.ebi.ac.uk/efo/EFO_0000771 |
clostridium difficile infection | http://www.ebi.ac.uk/efo/EFO_0009130 | http://www.ebi.ac.uk/efo/EFO_0000771 |
commensal bacterial infectious disease | http://purl.obolibrary.org/obo/MONDO_0000315 | http://www.ebi.ac.uk/efo/EFO_0000771 |
primary bacterial infectious disease | http://purl.obolibrary.org/obo/MONDO_0000314 | http://www.ebi.ac.uk/efo/EFO_0000771 |
gonorrhea | http://purl.obolibrary.org/obo/DOID_7551 | http://purl.obolibrary.org/obo/MONDO_0000314 |
Tularemia | http://www.ebi.ac.uk/efo/EFO_1001444 | http://purl.obolibrary.org/obo/MONDO_0000314 |
diphtheria | http://www.ebi.ac.uk/efo/EFO_0005549 | http://purl.obolibrary.org/obo/MONDO_0000314 |
salmonellosis | http://purl.obolibrary.org/obo/MONDO_0000827 | http://purl.obolibrary.org/obo/MONDO_0000314 |
typhoid fever | http://www.ebi.ac.uk/efo/EFO_0006789 | http://purl.obolibrary.org/obo/MONDO_0000827 |
Q fever | http://www.ebi.ac.uk/efo/EFO_0005224 | http://purl.obolibrary.org/obo/MONDO_0000314 |
Buruli ulcer disease | http://purl.obolibrary.org/obo/MONDO_0000327 | http://purl.obolibrary.org/obo/MONDO_0000314 |
granuloma inguinale | http://www.ebi.ac.uk/efo/EFO_0007291 | http://purl.obolibrary.org/obo/MONDO_0000314 |
listeriosis | http://www.ebi.ac.uk/efo/EFO_0007347 | http://purl.obolibrary.org/obo/MONDO_0000314 |
legionellosis | http://www.ebi.ac.uk/efo/EFO_0007342 | http://purl.obolibrary.org/obo/MONDO_0000314 |
Mycobacterium avium complex disease | http://www.ebi.ac.uk/efo/EFO_0007386 | http://purl.obolibrary.org/obo/MONDO_0000314 |
ornithosis | http://www.ebi.ac.uk/efo/EFO_0007410 | http://purl.obolibrary.org/obo/MONDO_0000314 |
brucellosis | http://www.ebi.ac.uk/efo/EFO_0007185 | http://purl.obolibrary.org/obo/MONDO_0000314 |
tuberculosis | http://purl.obolibrary.org/obo/MONDO_0018076 | http://purl.obolibrary.org/obo/MONDO_0000314 |
drug-resistant tuberculosis | http://purl.obolibrary.org/obo/MONDO_0041806 | http://purl.obolibrary.org/obo/MONDO_0018076 |
multidrug-resistant tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007381 | http://purl.obolibrary.org/obo/MONDO_0041806 |
extrapulmonary tuberculosis | http://purl.obolibrary.org/obo/MONDO_0000368 | http://purl.obolibrary.org/obo/MONDO_0018076 |
lupus vulgaris | http://www.ebi.ac.uk/efo/EFO_1001023 | http://purl.obolibrary.org/obo/MONDO_0000368 |
cardiac tuberculosis | http://www.ebi.ac.uk/efo/EFO_1001442 | http://purl.obolibrary.org/obo/MONDO_0000368 |
urogenital tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007531 | http://purl.obolibrary.org/obo/MONDO_0000368 |
male genital tuberculosis | http://www.ebi.ac.uk/efo/EFO_1001030 | http://www.ebi.ac.uk/efo/EFO_0007531 |
tuberculous salpingitis | http://purl.obolibrary.org/obo/MONDO_0000271 | http://www.ebi.ac.uk/efo/EFO_0007531 |
renal tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007463 | http://www.ebi.ac.uk/efo/EFO_0007531 |
abdominal tuberculosis | http://purl.obolibrary.org/obo/MONDO_0000369 | http://purl.obolibrary.org/obo/MONDO_0000368 |
lymph node tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007350 | http://purl.obolibrary.org/obo/MONDO_0000368 |
miliary tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007368 | http://purl.obolibrary.org/obo/MONDO_0000368 |
skeletal tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007487 | http://purl.obolibrary.org/obo/MONDO_0000368 |
pericardial tuberculosis | http://www.ebi.ac.uk/efo/EFO_0007426 | http://purl.obolibrary.org/obo/MONDO_0000368 |
opportunistic bacterial infectious disease | http://purl.obolibrary.org/obo/MONDO_0000316 | http://www.ebi.ac.uk/efo/EFO_0000771 |
nocardiosis | http://www.ebi.ac.uk/efo/EFO_0007397 | http://purl.obolibrary.org/obo/MONDO_0000316 |
anaerobic bacteria infectious disease | http://purl.obolibrary.org/obo/MONDO_0024389 | http://www.ebi.ac.uk/efo/EFO_0000771 |
anaerobic balanitis | http://purl.obolibrary.org/obo/MONDO_0024392 | http://purl.obolibrary.org/obo/MONDO_0024389 |
urinary tract infection | http://www.ebi.ac.uk/efo/EFO_0003103 | http://www.ebi.ac.uk/efo/EFO_0000771 |
bacterial urinary tract infection | http://purl.obolibrary.org/obo/MONDO_0005247 | http://www.ebi.ac.uk/efo/EFO_0003103 |
pyelonephritis | http://www.ebi.ac.uk/efo/EFO_1001141 | http://purl.obolibrary.org/obo/MONDO_0005247 |
chronic pyelonephritis | http://purl.obolibrary.org/obo/MONDO_0001110 | http://www.ebi.ac.uk/efo/EFO_1001141 |
xanthogranulomatous pyelonephritis | http://www.ebi.ac.uk/efo/EFO_1001244 | http://purl.obolibrary.org/obo/MONDO_0001110 |
urethritis | http://www.ebi.ac.uk/efo/EFO_0003878 | http://purl.obolibrary.org/obo/MONDO_0005247 |
Ureaplasma urealyticum urethritis | http://www.ebi.ac.uk/efo/EFO_1001225 | http://www.ebi.ac.uk/efo/EFO_0003878 |
Pseudomonas infection | http://www.ebi.ac.uk/efo/EFO_0001076 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Pseudomonas aeruginosa infectious disease | http://purl.obolibrary.org/obo/MONDO_0040732 | http://www.ebi.ac.uk/efo/EFO_0001076 |
Pseudomonas aeruginosa PA14 infection | http://www.ebi.ac.uk/efo/EFO_0001078 | http://purl.obolibrary.org/obo/MONDO_0040732 |
Pseudomonas aeruginosa CF5 infection | http://www.ebi.ac.uk/efo/EFO_0001077 | http://purl.obolibrary.org/obo/MONDO_0040732 |
prostatitis | http://www.ebi.ac.uk/efo/EFO_0003830 | http://www.ebi.ac.uk/efo/EFO_0000771 |
bacteriemia | http://www.ebi.ac.uk/efo/EFO_0003033 | http://www.ebi.ac.uk/efo/EFO_0000771 |
pneumococcal bacteremia | http://www.ebi.ac.uk/efo/EFO_1001925 | http://www.ebi.ac.uk/efo/EFO_0003033 |
empyema | http://www.ebi.ac.uk/efo/EFO_0003097 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Tuberculosis | http://www.orpha.net/ORDO/Orphanet_3389 | http://www.ebi.ac.uk/efo/EFO_0000771 |
mycobacterial infectious disease | http://purl.obolibrary.org/obo/MONDO_0020590 | http://www.ebi.ac.uk/efo/EFO_0000771 |
autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency | http://purl.obolibrary.org/obo/MONDO_0017900 | http://purl.obolibrary.org/obo/MONDO_0020590 |
immunodeficiency 33 | http://purl.obolibrary.org/obo/MONDO_0010386 | http://purl.obolibrary.org/obo/MONDO_0020590 |
staphylococcal skin infections | http://www.ebi.ac.uk/efo/EFO_1001849 | http://www.ebi.ac.uk/efo/EFO_0000771 |
staphylococcal toxemia | http://purl.obolibrary.org/obo/MONDO_0017592 | http://www.ebi.ac.uk/efo/EFO_1001849 |
Staphylococcus aureus infection | http://www.ebi.ac.uk/efo/EFO_0005681 | http://www.ebi.ac.uk/efo/EFO_1001849 |
skin and soft tissue Staphylococcus aureus infection | http://www.ebi.ac.uk/efo/EFO_1001489 | http://www.ebi.ac.uk/efo/EFO_0005681 |
Vancomycin-Resistant Staphylococcus Aureus Infection | http://www.ebi.ac.uk/efo/EFO_0008558 | http://www.ebi.ac.uk/efo/EFO_0005681 |
Methicillin-Susceptible Staphylococcus Aureus Infection | http://www.ebi.ac.uk/efo/EFO_0008557 | http://www.ebi.ac.uk/efo/EFO_0005681 |
Methicillin-Resistant Staphylococcus Aureus Infection | http://www.ebi.ac.uk/efo/EFO_0008555 | http://www.ebi.ac.uk/efo/EFO_0005681 |
disseminated atypical mycobacterial infection | http://www.ebi.ac.uk/efo/EFO_1001498 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Salmonella Infections | http://www.ebi.ac.uk/efo/EFO_1001418 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Serratia Infections | http://www.ebi.ac.uk/efo/EFO_1001421 | http://www.ebi.ac.uk/efo/EFO_0000771 |
bacterial sexually transmitted disease | http://www.ebi.ac.uk/efo/EFO_0003955 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Klebsiella infectious disease | http://purl.obolibrary.org/obo/MONDO_0030603 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Bordetella Infections | http://www.ebi.ac.uk/efo/EFO_1001275 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Burkholderia Infections | http://www.ebi.ac.uk/efo/EFO_1001280 | http://www.ebi.ac.uk/efo/EFO_0000771 |
Vibrio infectious disease | http://www.ebi.ac.uk/efo/EFO_1001235 | http://www.ebi.ac.uk/efo/EFO_0000771 |
vector-borne disease | http://purl.obolibrary.org/obo/MONDO_0100120 | http://www.ebi.ac.uk/efo/EFO_0005741 |
tick-borne infectious disease | http://purl.obolibrary.org/obo/MONDO_0025294 | http://purl.obolibrary.org/obo/MONDO_0100120 |
fungal infectious disease | http://purl.obolibrary.org/obo/MONDO_0002041 | http://www.ebi.ac.uk/efo/EFO_0005741 |
sporotrichosis | http://www.ebi.ac.uk/efo/EFO_0007494 | http://purl.obolibrary.org/obo/MONDO_0002041 |
disseminated sporotrichosis | http://purl.obolibrary.org/obo/MONDO_0042484 | http://www.ebi.ac.uk/efo/EFO_0007494 |
opportunistic mycosis | http://purl.obolibrary.org/obo/MONDO_0002312 | http://purl.obolibrary.org/obo/MONDO_0002041 |
opportunistic systemic mycosis | http://purl.obolibrary.org/obo/MONDO_0045033 | http://purl.obolibrary.org/obo/MONDO_0002312 |
disseminated candidiasis | http://purl.obolibrary.org/obo/MONDO_0042233 | http://purl.obolibrary.org/obo/MONDO_0045033 |
fusariosis | http://www.ebi.ac.uk/efo/EFO_1001795 | http://purl.obolibrary.org/obo/MONDO_0002312 |
candidiasis | http://purl.obolibrary.org/obo/MONDO_0002026 | http://purl.obolibrary.org/obo/MONDO_0002312 |
geotrichosis | http://www.ebi.ac.uk/efo/EFO_0007284 | http://purl.obolibrary.org/obo/MONDO_0002312 |
mucormycosis | http://www.ebi.ac.uk/efo/EFO_0007380 | http://purl.obolibrary.org/obo/MONDO_0002312 |
aspergillosis | http://www.ebi.ac.uk/efo/EFO_0007157 | http://purl.obolibrary.org/obo/MONDO_0002312 |
cutaneous mycosis | http://purl.obolibrary.org/obo/MONDO_0000254 | http://purl.obolibrary.org/obo/MONDO_0002041 |
superficial mycosis | http://purl.obolibrary.org/obo/MONDO_0024268 | http://purl.obolibrary.org/obo/MONDO_0000254 |
piedra | http://purl.obolibrary.org/obo/MONDO_0000253 | http://purl.obolibrary.org/obo/MONDO_0024268 |
black piedra | http://www.ebi.ac.uk/efo/EFO_0007171 | http://purl.obolibrary.org/obo/MONDO_0000253 |
subcutaneous mycosis | http://purl.obolibrary.org/obo/MONDO_0000255 | http://purl.obolibrary.org/obo/MONDO_0000254 |
chromoblastomycosis | http://www.ebi.ac.uk/efo/EFO_0007207 | http://purl.obolibrary.org/obo/MONDO_0000255 |
dermatomycosis | http://purl.obolibrary.org/obo/MONDO_0002040 | http://purl.obolibrary.org/obo/MONDO_0000254 |
lobomycosis | http://www.ebi.ac.uk/efo/EFO_1001805 | http://purl.obolibrary.org/obo/MONDO_0002040 |
systemic mycosis | http://purl.obolibrary.org/obo/MONDO_0000256 | http://purl.obolibrary.org/obo/MONDO_0002041 |
primary systemic mycosis | http://purl.obolibrary.org/obo/MONDO_0000308 | http://purl.obolibrary.org/obo/MONDO_0000256 |
histoplasmosis | http://www.ebi.ac.uk/efo/EFO_0007310 | http://purl.obolibrary.org/obo/MONDO_0000308 |
paracoccidioidomycosis | http://www.ebi.ac.uk/efo/EFO_0007417 | http://purl.obolibrary.org/obo/MONDO_0000308 |
blastomycosis | http://www.ebi.ac.uk/efo/EFO_0007174 | http://purl.obolibrary.org/obo/MONDO_0000308 |
Pneumocystis infectious disease | http://www.ebi.ac.uk/efo/EFO_0007447 | http://purl.obolibrary.org/obo/MONDO_0002041 |
hookworm infectious disease | http://www.ebi.ac.uk/efo/EFO_0007314 | http://www.ebi.ac.uk/efo/EFO_0005741 |
sexually transmitted disease | http://purl.obolibrary.org/obo/MONDO_0021681 | http://www.ebi.ac.uk/efo/EFO_0005741 |
retroperitoneal infection | http://www.ebi.ac.uk/efo/EFO_0010691 | http://www.ebi.ac.uk/efo/EFO_0005741 |
subcutaneous tissue infection | http://www.ebi.ac.uk/efo/EFO_0010692 | http://www.ebi.ac.uk/efo/EFO_0005741 |
coinfection | http://www.ebi.ac.uk/efo/EFO_0010716 | http://www.ebi.ac.uk/efo/EFO_0005741 |
Acanthamoeba infectious disease | http://purl.obolibrary.org/obo/MONDO_0021747 | http://www.ebi.ac.uk/efo/EFO_0005741 |
Ciliophora infectious disease | http://www.ebi.ac.uk/efo/EFO_0007209 | http://www.ebi.ac.uk/efo/EFO_0005741 |
nosocomial infection | http://purl.obolibrary.org/obo/MONDO_0043544 | http://www.ebi.ac.uk/efo/EFO_0005741 |
bone fracture | http://www.ebi.ac.uk/efo/EFO_0003931 | http://www.ebi.ac.uk/efo/EFO_0000546 |
hip fracture | http://www.ebi.ac.uk/efo/EFO_0003964 | http://www.ebi.ac.uk/efo/EFO_0003931 |
Skull Fractures | http://www.ebi.ac.uk/efo/EFO_1001425 | http://www.ebi.ac.uk/efo/EFO_0003931 |
jaw fracture | http://www.ebi.ac.uk/efo/EFO_0009612 | http://www.ebi.ac.uk/efo/EFO_1001425 |
orbital fracture | http://www.ebi.ac.uk/efo/EFO_0009611 | http://www.ebi.ac.uk/efo/EFO_1001425 |
Periprosthetic Fractures | http://www.ebi.ac.uk/efo/EFO_1001823 | http://www.ebi.ac.uk/efo/EFO_0003931 |
malunion fracture | http://www.ebi.ac.uk/efo/EFO_0010684 | http://www.ebi.ac.uk/efo/EFO_0003931 |
fractures, ununited | http://www.ebi.ac.uk/efo/EFO_0009707 | http://www.ebi.ac.uk/efo/EFO_0003931 |
upper extremity fracture | http://www.ebi.ac.uk/efo/EFO_0009514 | http://www.ebi.ac.uk/efo/EFO_0003931 |
ulna fracture | http://www.ebi.ac.uk/efo/EFO_0003950 | http://www.ebi.ac.uk/efo/EFO_0009514 |
Monteggia's fracture | http://www.ebi.ac.uk/efo/EFO_1001811 | http://www.ebi.ac.uk/efo/EFO_0003950 |
radius fracture | http://www.ebi.ac.uk/efo/EFO_0003957 | http://www.ebi.ac.uk/efo/EFO_0009514 |
humerus fracture | http://www.ebi.ac.uk/efo/EFO_0003943 | http://www.ebi.ac.uk/efo/EFO_0009514 |
wrist fracture | http://www.ebi.ac.uk/efo/EFO_0009515 | http://www.ebi.ac.uk/efo/EFO_0009514 |
finger fracture | http://www.ebi.ac.uk/efo/EFO_0009616 | http://www.ebi.ac.uk/efo/EFO_0009514 |
multiple bone fractures | http://www.ebi.ac.uk/efo/EFO_0009513 | http://www.ebi.ac.uk/efo/EFO_0003931 |
lower extremity fracture | http://www.ebi.ac.uk/efo/EFO_0009512 | http://www.ebi.ac.uk/efo/EFO_0003931 |
tibia fracture | http://www.ebi.ac.uk/efo/EFO_0003944 | http://www.ebi.ac.uk/efo/EFO_0009512 |
femoral neck fracture | http://www.ebi.ac.uk/efo/EFO_1001792 | http://www.ebi.ac.uk/efo/EFO_0009512 |
femur fracture | http://www.ebi.ac.uk/efo/EFO_0008553 | http://www.ebi.ac.uk/efo/EFO_0009512 |
atypical femoral fracture | http://www.ebi.ac.uk/efo/EFO_0009960 | http://www.ebi.ac.uk/efo/EFO_0009512 |
knee fracture | http://www.ebi.ac.uk/efo/EFO_0009617 | http://www.ebi.ac.uk/efo/EFO_0009512 |
ankle fracture | http://www.ebi.ac.uk/efo/EFO_0009615 | http://www.ebi.ac.uk/efo/EFO_0009512 |
foot fracture | http://www.ebi.ac.uk/efo/EFO_0009618 | http://www.ebi.ac.uk/efo/EFO_0009512 |
fibula fracture | http://www.ebi.ac.uk/efo/EFO_0009613 | http://www.ebi.ac.uk/efo/EFO_0009512 |
clavicle fracture | http://www.ebi.ac.uk/efo/EFO_0009614 | http://www.ebi.ac.uk/efo/EFO_0003931 |
rib fracture | http://www.ebi.ac.uk/efo/EFO_0009620 | http://www.ebi.ac.uk/efo/EFO_0003931 |
fracture of pelvis | http://www.ebi.ac.uk/efo/EFO_0009622 | http://www.ebi.ac.uk/efo/EFO_0003931 |
shoulder fracture | http://www.ebi.ac.uk/efo/EFO_0009621 | http://www.ebi.ac.uk/efo/EFO_0003931 |
ulcer disease | http://purl.obolibrary.org/obo/MONDO_0043839 | http://www.ebi.ac.uk/efo/EFO_0000546 |
ischemia reperfusion injury | http://www.ebi.ac.uk/efo/EFO_0002687 | http://www.ebi.ac.uk/efo/EFO_0000546 |
muscle strain | http://www.ebi.ac.uk/efo/EFO_0010686 | http://www.ebi.ac.uk/efo/EFO_0000546 |
intrathoracic organ injury | http://www.ebi.ac.uk/efo/EFO_0009887 | http://www.ebi.ac.uk/efo/EFO_0000546 |
blood vessel injury | http://www.ebi.ac.uk/efo/EFO_0009886 | http://www.ebi.ac.uk/efo/EFO_0000546 |
teratogenicity | http://www.ebi.ac.uk/efo/EFO_0009880 | http://www.ebi.ac.uk/efo/EFO_0000546 |
kidney injury | http://www.ebi.ac.uk/efo/EFO_0009833 | http://www.ebi.ac.uk/efo/EFO_0000546 |
perineal laceration during delivery | http://www.ebi.ac.uk/efo/EFO_0009816 | http://www.ebi.ac.uk/efo/EFO_0000546 |
neck injury | http://www.ebi.ac.uk/efo/EFO_0009476 | http://www.ebi.ac.uk/efo/EFO_0000546 |
burn | http://www.ebi.ac.uk/efo/EFO_0009516 | http://www.ebi.ac.uk/efo/EFO_0000546 |
sunburn | http://www.ebi.ac.uk/efo/EFO_0003958 | http://www.ebi.ac.uk/efo/EFO_0009516 |
Eye Burns | http://www.ebi.ac.uk/efo/EFO_1001788 | http://www.ebi.ac.uk/efo/EFO_0009516 |
thermal burn | http://www.ebi.ac.uk/efo/EFO_0020910 | http://www.ebi.ac.uk/efo/EFO_0009516 |
frostbite | http://www.ebi.ac.uk/efo/EFO_0009527 | http://www.ebi.ac.uk/efo/EFO_0000546 |
dislocation | http://www.ebi.ac.uk/efo/EFO_0009521 | http://www.ebi.ac.uk/efo/EFO_0000546 |
foreign body | http://www.ebi.ac.uk/efo/EFO_0009525 | http://www.ebi.ac.uk/efo/EFO_0000546 |
heart injury | http://www.ebi.ac.uk/efo/EFO_0009506 | http://www.ebi.ac.uk/efo/EFO_0000546 |
head injury | http://www.ebi.ac.uk/efo/EFO_0009505 | http://www.ebi.ac.uk/efo/EFO_0000546 |
eye injury | http://www.ebi.ac.uk/efo/EFO_0009485 | http://www.ebi.ac.uk/efo/EFO_0009505 |
nose injury | http://www.ebi.ac.uk/efo/EFO_0009623 | http://www.ebi.ac.uk/efo/EFO_0009505 |
crush injury | http://www.ebi.ac.uk/efo/EFO_0009504 | http://www.ebi.ac.uk/efo/EFO_0000546 |
limb injury | http://www.ebi.ac.uk/efo/EFO_0009509 | http://www.ebi.ac.uk/efo/EFO_0000546 |
leg injury | http://www.ebi.ac.uk/efo/EFO_0009508 | http://www.ebi.ac.uk/efo/EFO_0009509 |
ankle injury | http://www.ebi.ac.uk/efo/EFO_1002021 | http://www.ebi.ac.uk/efo/EFO_0009508 |
Achilles tendon injury | http://www.ebi.ac.uk/efo/EFO_0600078 | http://www.ebi.ac.uk/efo/EFO_0009508 |
knee injury | http://www.ebi.ac.uk/efo/EFO_0009507 | http://www.ebi.ac.uk/efo/EFO_0009508 |
caustic injury | http://www.ebi.ac.uk/efo/EFO_0009503 | http://www.ebi.ac.uk/efo/EFO_0000546 |
abdominal injury | http://www.ebi.ac.uk/efo/EFO_0009502 | http://www.ebi.ac.uk/efo/EFO_0000546 |
sprain | http://www.ebi.ac.uk/efo/EFO_0009582 | http://www.ebi.ac.uk/efo/EFO_0000546 |
immune system disease | http://www.ebi.ac.uk/efo/EFO_0000540 | http://www.ebi.ac.uk/efo/EFO_0000408 |
graft versus host disease | http://purl.obolibrary.org/obo/MONDO_0013730 | http://www.ebi.ac.uk/efo/EFO_0000540 |
acute graft vs. host disease | http://www.ebi.ac.uk/efo/EFO_0004599 | http://purl.obolibrary.org/obo/MONDO_0013730 |
chronic graft versus host disease | http://purl.obolibrary.org/obo/MONDO_0020547 | http://purl.obolibrary.org/obo/MONDO_0013730 |
immunodeficiency disease | http://purl.obolibrary.org/obo/MONDO_0021094 | http://www.ebi.ac.uk/efo/EFO_0000540 |
immunodeficiency due to CD25 deficiency | http://purl.obolibrary.org/obo/MONDO_0011664 | http://purl.obolibrary.org/obo/MONDO_0021094 |
immunodeficiency 67 | http://purl.obolibrary.org/obo/MONDO_0011888 | http://purl.obolibrary.org/obo/MONDO_0021094 |
T-cell immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0003780 | http://purl.obolibrary.org/obo/MONDO_0021094 |
congenital T-cell immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0001222 | http://purl.obolibrary.org/obo/MONDO_0003780 |
Nezelof syndrome | http://purl.obolibrary.org/obo/MONDO_0009451 | http://purl.obolibrary.org/obo/MONDO_0001222 |
Immuno-osseous dysplasia | http://www.orpha.net/ORDO/Orphanet_169349 | http://purl.obolibrary.org/obo/MONDO_0021094 |
Cartilage-hair hypoplasia | http://www.orpha.net/ORDO/Orphanet_175 | http://www.orpha.net/ORDO/Orphanet_169349 |
DNA repair defect other than combined T-cell and B-cell immunodeficiencies | http://www.orpha.net/ORDO/Orphanet_169346 | http://purl.obolibrary.org/obo/MONDO_0021094 |
ICF syndrome | http://www.orpha.net/ORDO/Orphanet_2268 | http://www.orpha.net/ORDO/Orphanet_169346 |
complement deficiency | http://purl.obolibrary.org/obo/MONDO_0003832 | http://purl.obolibrary.org/obo/MONDO_0021094 |
immunodeficiency due to a classical component pathway complement deficiency | http://purl.obolibrary.org/obo/MONDO_0015699 | http://purl.obolibrary.org/obo/MONDO_0003832 |
C1Q deficiency | http://purl.obolibrary.org/obo/MONDO_0013343 | http://purl.obolibrary.org/obo/MONDO_0015699 |
complement component C1s deficiency | http://purl.obolibrary.org/obo/MONDO_0013419 | http://purl.obolibrary.org/obo/MONDO_0015699 |
immunodeficiency due to a late component of complement deficiency | http://purl.obolibrary.org/obo/MONDO_0015700 | http://purl.obolibrary.org/obo/MONDO_0003832 |
type II complement component 8 deficiency | http://purl.obolibrary.org/obo/MONDO_0013421 | http://purl.obolibrary.org/obo/MONDO_0015700 |
recurrent Neisseria infections due to factor D deficiency | http://purl.obolibrary.org/obo/MONDO_0013487 | http://purl.obolibrary.org/obo/MONDO_0003832 |
disorder of lectin complement activation pathway | http://purl.obolibrary.org/obo/MONDO_0044209 | http://purl.obolibrary.org/obo/MONDO_0003832 |
immunodeficiency due to ficolin3 deficiency | http://purl.obolibrary.org/obo/MONDO_0013467 | http://purl.obolibrary.org/obo/MONDO_0044209 |
immunodeficiency due to MASP-2 deficiency | http://purl.obolibrary.org/obo/MONDO_0013423 | http://purl.obolibrary.org/obo/MONDO_0044209 |
complement factor I deficiency | http://purl.obolibrary.org/obo/MONDO_0012594 | http://purl.obolibrary.org/obo/MONDO_0003832 |
classic complement early component deficiency | http://purl.obolibrary.org/obo/MONDO_0000015 | http://purl.obolibrary.org/obo/MONDO_0003832 |
complement component 3 deficiency | http://purl.obolibrary.org/obo/MONDO_0013417 | http://purl.obolibrary.org/obo/MONDO_0000015 |
FADD-related immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0013408 | http://purl.obolibrary.org/obo/MONDO_0021094 |
combined immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0015131 | http://purl.obolibrary.org/obo/MONDO_0021094 |
severe combined immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0015974 | http://purl.obolibrary.org/obo/MONDO_0015131 |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy | http://purl.obolibrary.org/obo/MONDO_0011132 | http://purl.obolibrary.org/obo/MONDO_0015974 |
T-B- severe combined immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0017855 | http://purl.obolibrary.org/obo/MONDO_0015974 |
Severe combined immunodeficiency due to LCK deficiency | http://www.orpha.net/ORDO/Orphanet_280142 | http://purl.obolibrary.org/obo/MONDO_0017855 |
Omenn syndrome | http://purl.obolibrary.org/obo/MONDO_0011338 | http://purl.obolibrary.org/obo/MONDO_0017855 |
neutrophil immunodeficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0011988 | http://purl.obolibrary.org/obo/MONDO_0017855 |
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | http://purl.obolibrary.org/obo/MONDO_0011086 | http://purl.obolibrary.org/obo/MONDO_0017855 |
Short-limb skeletal dysplasia with severe combined immunodeficiency | http://www.orpha.net/ORDO/Orphanet_935 | http://purl.obolibrary.org/obo/MONDO_0017855 |
reticular dysgenesis | http://purl.obolibrary.org/obo/MONDO_0009973 | http://purl.obolibrary.org/obo/MONDO_0017855 |
Severe combined immunodeficiency due to DCLRE1C deficiency | http://www.orpha.net/ORDO/Orphanet_275 | http://purl.obolibrary.org/obo/MONDO_0017855 |
Cernunnos-XLF deficiency | http://purl.obolibrary.org/obo/MONDO_0012650 | http://purl.obolibrary.org/obo/MONDO_0017855 |
combined immunodeficiency with skin granulomas | http://purl.obolibrary.org/obo/MONDO_0009306 | http://purl.obolibrary.org/obo/MONDO_0017855 |
Severe combined immunodeficiency due to DNA-PKcs deficiency | http://www.orpha.net/ORDO/Orphanet_317425 | http://purl.obolibrary.org/obo/MONDO_0017855 |
severe combined immunodeficiency due to LCK deficiency | http://purl.obolibrary.org/obo/MONDO_0014334 | http://purl.obolibrary.org/obo/MONDO_0017855 |
severe combined immunodeficiency due to DNA-PKcs deficiency | http://purl.obolibrary.org/obo/MONDO_0014423 | http://purl.obolibrary.org/obo/MONDO_0017855 |
combined immunodeficiency due to partial RAG1 deficiency | http://purl.obolibrary.org/obo/MONDO_0012359 | http://purl.obolibrary.org/obo/MONDO_0017855 |
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia | http://purl.obolibrary.org/obo/MONDO_0033554 | http://purl.obolibrary.org/obo/MONDO_0017855 |
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia | http://purl.obolibrary.org/obo/MONDO_0033555 | http://purl.obolibrary.org/obo/MONDO_0017855 |
short-limb skeletal dysplasia with severe combined immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0008704 | http://purl.obolibrary.org/obo/MONDO_0017855 |
Reticular dysgenesis | http://www.orpha.net/ORDO/Orphanet_33355 | http://purl.obolibrary.org/obo/MONDO_0017855 |
T-B+ severe combined immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0044200 | http://purl.obolibrary.org/obo/MONDO_0015974 |
T-B+ severe combined immunodeficiency due to CD45 deficiency | http://purl.obolibrary.org/obo/MONDO_0015702 | http://purl.obolibrary.org/obo/MONDO_0044200 |
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | http://purl.obolibrary.org/obo/MONDO_0015703 | http://purl.obolibrary.org/obo/MONDO_0044200 |
immunodeficiency 18 | http://purl.obolibrary.org/obo/MONDO_0014278 | http://purl.obolibrary.org/obo/MONDO_0015703 |
Severe combined immunodeficiency due to CORO1A deficiency | http://www.orpha.net/ORDO/Orphanet_228003 | http://purl.obolibrary.org/obo/MONDO_0044200 |
X-Linked Combined Immunodeficiency Diseases | http://www.ebi.ac.uk/efo/EFO_1001451 | http://purl.obolibrary.org/obo/MONDO_0044200 |
T-B+ severe combined immunodeficiency due to JAK3 deficiency | http://purl.obolibrary.org/obo/MONDO_0010938 | http://purl.obolibrary.org/obo/MONDO_0044200 |
gamma chain deficiency | http://www.ebi.ac.uk/efo/EFO_0005555 | http://purl.obolibrary.org/obo/MONDO_0044200 |
severe combined immunodeficiency due to CORO1A deficiency | http://purl.obolibrary.org/obo/MONDO_0014168 | http://purl.obolibrary.org/obo/MONDO_0044200 |
T+ B+ severe combined immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0044201 | http://purl.obolibrary.org/obo/MONDO_0015974 |
Severe combined immunodeficiency due to CARD11 deficiency | http://www.orpha.net/ORDO/Orphanet_357237 | http://purl.obolibrary.org/obo/MONDO_0044201 |
severe combined immunodeficiency due to IKK2 deficiency | http://purl.obolibrary.org/obo/MONDO_0014267 | http://purl.obolibrary.org/obo/MONDO_0044201 |
severe combined immunodeficiency due to CTPS1 deficiency | http://purl.obolibrary.org/obo/MONDO_0014391 | http://purl.obolibrary.org/obo/MONDO_0044201 |
Severe combined immunodeficiency due to IKK2 deficiency | http://www.orpha.net/ORDO/Orphanet_397787 | http://purl.obolibrary.org/obo/MONDO_0044201 |
severe combined immunodeficiency due to CARD11 deficiency | http://purl.obolibrary.org/obo/MONDO_0014081 | http://purl.obolibrary.org/obo/MONDO_0044201 |
severe combined immunodeficiency due to CARMIL2 deficiency | http://purl.obolibrary.org/obo/MONDO_0029134 | http://purl.obolibrary.org/obo/MONDO_0015974 |
janus kinase-3 deficiency | http://www.ebi.ac.uk/efo/EFO_0005565 | http://purl.obolibrary.org/obo/MONDO_0015974 |
recombinase activating gene 1 deficiency | http://purl.obolibrary.org/obo/MONDO_0000572 | http://purl.obolibrary.org/obo/MONDO_0015974 |
recombinase activating gene 2 deficiency | http://purl.obolibrary.org/obo/MONDO_0000573 | http://purl.obolibrary.org/obo/MONDO_0015974 |
non-SCID combined immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0018814 | http://purl.obolibrary.org/obo/MONDO_0015131 |
combined immunodeficiency due to STK4 deficiency | http://purl.obolibrary.org/obo/MONDO_0013934 | http://purl.obolibrary.org/obo/MONDO_0018814 |
MHC class I deficiency | http://purl.obolibrary.org/obo/MONDO_0011476 | http://purl.obolibrary.org/obo/MONDO_0018814 |
combined immunodeficiency due to ZAP70 deficiency | http://purl.obolibrary.org/obo/MONDO_0010023 | http://purl.obolibrary.org/obo/MONDO_0018814 |
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | http://purl.obolibrary.org/obo/MONDO_0010455 | http://purl.obolibrary.org/obo/MONDO_0018814 |
combined immunodeficiency due to CD3gamma deficiency | http://purl.obolibrary.org/obo/MONDO_0014276 | http://purl.obolibrary.org/obo/MONDO_0018814 |
idiopathic CD4 lymphocytopenia | http://purl.obolibrary.org/obo/MONDO_0014226 | http://purl.obolibrary.org/obo/MONDO_0018814 |
BENTA disease | http://purl.obolibrary.org/obo/MONDO_0014645 | http://purl.obolibrary.org/obo/MONDO_0018814 |
susceptibility to respiratory infections associated with CD8alpha chain mutation | http://purl.obolibrary.org/obo/MONDO_0012161 | http://purl.obolibrary.org/obo/MONDO_0018814 |
NIK deficiency | http://purl.obolibrary.org/obo/MONDO_0018642 | http://purl.obolibrary.org/obo/MONDO_0018814 |
autosomal recessive lymphoproliferative disease | http://purl.obolibrary.org/obo/MONDO_0016536 | http://purl.obolibrary.org/obo/MONDO_0018814 |
lymphoproliferative syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0013081 | http://purl.obolibrary.org/obo/MONDO_0016536 |
cryptosporidiosis-chronic cholangitis-liver disease syndrome | http://purl.obolibrary.org/obo/MONDO_0014082 | http://purl.obolibrary.org/obo/MONDO_0018814 |
combined immunodeficiency due to MALT1 deficiency | http://purl.obolibrary.org/obo/MONDO_0014197 | http://purl.obolibrary.org/obo/MONDO_0018814 |
TCR-alpha-beta-positive T-cell deficiency | http://purl.obolibrary.org/obo/MONDO_0014160 | http://purl.obolibrary.org/obo/MONDO_0018814 |
MHC class II deficiency | http://purl.obolibrary.org/obo/MONDO_0008855 | http://purl.obolibrary.org/obo/MONDO_0018814 |
GATA2 deficiency with susceptibility to MDS/AML | http://purl.obolibrary.org/obo/MONDO_0042982 | http://purl.obolibrary.org/obo/MONDO_0021094 |
monocytopenia with susceptibility to infections | http://purl.obolibrary.org/obo/MONDO_0013607 | http://purl.obolibrary.org/obo/MONDO_0042982 |
immunodeficiency due to selective anti-polysaccharide antibody deficiency | http://purl.obolibrary.org/obo/MONDO_0019093 | http://purl.obolibrary.org/obo/MONDO_0021094 |
Severe dermatitis-multiple allergies-metabolic wasting syndrome | http://www.orpha.net/ORDO/Orphanet_369992 | http://purl.obolibrary.org/obo/MONDO_0021094 |
Hyper-IgE syndrome | http://www.orpha.net/ORDO/Orphanet_331223 | http://purl.obolibrary.org/obo/MONDO_0021094 |
Autosomal dominant hyper-IgE syndrome | http://www.orpha.net/ORDO/Orphanet_2314 | http://www.orpha.net/ORDO/Orphanet_331223 |
Autosomal recessive hyper-IgE syndrome | http://www.orpha.net/ORDO/Orphanet_169446 | http://www.orpha.net/ORDO/Orphanet_331223 |
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency | http://www.orpha.net/ORDO/Orphanet_331226 | http://www.orpha.net/ORDO/Orphanet_169446 |
Combined immunodeficiency due to DOCK8 deficiency | http://www.orpha.net/ORDO/Orphanet_217390 | http://www.orpha.net/ORDO/Orphanet_169446 |
Immunodeficiency due to absence of thymus | http://www.orpha.net/ORDO/Orphanet_331220 | http://purl.obolibrary.org/obo/MONDO_0021094 |
Thymic aplasia | http://www.orpha.net/ORDO/Orphanet_83471 | http://www.orpha.net/ORDO/Orphanet_331220 |
immunodeficiency 66 | http://purl.obolibrary.org/obo/MONDO_0030013 | http://purl.obolibrary.org/obo/MONDO_0021094 |
immunodeficiency 62 | http://purl.obolibrary.org/obo/MONDO_0032763 | http://purl.obolibrary.org/obo/MONDO_0021094 |
combined immunodeficiency due to GINS1 deficiency | http://purl.obolibrary.org/obo/MONDO_0044725 | http://purl.obolibrary.org/obo/MONDO_0021094 |
immunodeficiency 74, COVID-19-related, X-linked | http://purl.obolibrary.org/obo/MONDO_0026767 | http://purl.obolibrary.org/obo/MONDO_0021094 |
Facial dysmorphism - immunodeficiency - livedo - short stature | http://www.orpha.net/ORDO/Orphanet_352712 | http://purl.obolibrary.org/obo/MONDO_0021094 |
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | http://purl.obolibrary.org/obo/MONDO_0012383 | http://purl.obolibrary.org/obo/MONDO_0021094 |
immunodeficiency 72 with autoinflammation | http://purl.obolibrary.org/obo/MONDO_0033551 | http://purl.obolibrary.org/obo/MONDO_0021094 |
immunodeficiency 69 | http://purl.obolibrary.org/obo/MONDO_0033541 | http://purl.obolibrary.org/obo/MONDO_0021094 |
immunodeficiency 70 | http://purl.obolibrary.org/obo/MONDO_0033542 | http://purl.obolibrary.org/obo/MONDO_0021094 |
immunoproliferative disorder | http://purl.obolibrary.org/obo/MONDO_0021334 | http://www.ebi.ac.uk/efo/EFO_0000540 |
lymphoid system disorder | http://purl.obolibrary.org/obo/MONDO_0044986 | http://www.ebi.ac.uk/efo/EFO_0000540 |
lymphatic system disease | http://www.ebi.ac.uk/efo/EFO_0007352 | http://purl.obolibrary.org/obo/MONDO_0044986 |
lymphangiectasis | http://www.ebi.ac.uk/efo/EFO_1001025 | http://www.ebi.ac.uk/efo/EFO_0007352 |
Giant Lymph Node Hyperplasia | http://www.ebi.ac.uk/efo/EFO_1001332 | http://www.ebi.ac.uk/efo/EFO_0007352 |
non-Langerhans cell histiocytosis | http://purl.obolibrary.org/obo/MONDO_0015531 | http://www.ebi.ac.uk/efo/EFO_0007352 |
Necrobiotic Xanthogranuloma | http://www.ebi.ac.uk/efo/EFO_1001376 | http://purl.obolibrary.org/obo/MONDO_0015531 |
Juvenile Xanthogranuloma | http://www.ebi.ac.uk/efo/EFO_1000311 | http://purl.obolibrary.org/obo/MONDO_0015531 |
sinus histiocytosis with massive lymphadenopathy | http://purl.obolibrary.org/obo/MONDO_0006412 | http://purl.obolibrary.org/obo/MONDO_0015531 |
Chylothorax | http://www.ebi.ac.uk/efo/EFO_1001780 | http://www.ebi.ac.uk/efo/EFO_0007352 |
pseudolymphoma | http://www.ebi.ac.uk/efo/EFO_1001831 | http://www.ebi.ac.uk/efo/EFO_0007352 |
lymphedema | http://purl.obolibrary.org/obo/MONDO_0019297 | http://www.ebi.ac.uk/efo/EFO_0007352 |
elephantiasis | http://www.ebi.ac.uk/efo/EFO_0004711 | http://purl.obolibrary.org/obo/MONDO_0019297 |
podoconiosis | http://www.ebi.ac.uk/efo/EFO_0004712 | http://www.ebi.ac.uk/efo/EFO_0004711 |
primary lymphedema | http://purl.obolibrary.org/obo/MONDO_0019175 | http://purl.obolibrary.org/obo/MONDO_0019297 |
lymph node disorder | http://purl.obolibrary.org/obo/MONDO_0004928 | http://www.ebi.ac.uk/efo/EFO_0007352 |
lymphadenitis | http://purl.obolibrary.org/obo/MONDO_0002052 | http://purl.obolibrary.org/obo/MONDO_0004928 |
mucocutaneous lymph node syndrome | http://www.ebi.ac.uk/efo/EFO_0004246 | http://purl.obolibrary.org/obo/MONDO_0002052 |
Kimura disease | http://www.ebi.ac.uk/efo/EFO_1000722 | http://purl.obolibrary.org/obo/MONDO_0002052 |
erythroderma desquamativum | http://purl.obolibrary.org/obo/MONDO_0017787 | http://www.ebi.ac.uk/efo/EFO_0000540 |
acquired immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0017769 | http://www.ebi.ac.uk/efo/EFO_0000540 |
chronic mucocutaneous candidiasis | http://purl.obolibrary.org/obo/MONDO_0015279 | http://www.ebi.ac.uk/efo/EFO_0000540 |
immunodeficiency 51 | http://purl.obolibrary.org/obo/MONDO_0013500 | http://purl.obolibrary.org/obo/MONDO_0015279 |
predisposition to invasive fungal disease due to CARD9 deficiency | http://purl.obolibrary.org/obo/MONDO_0008905 | http://purl.obolibrary.org/obo/MONDO_0015279 |
hypersensitivity reaction disease | http://www.ebi.ac.uk/efo/EFO_1002003 | http://www.ebi.ac.uk/efo/EFO_0000540 |
allergic disease | http://purl.obolibrary.org/obo/MONDO_0005271 | http://www.ebi.ac.uk/efo/EFO_1002003 |
extrinsic allergic alveolitis | http://www.ebi.ac.uk/efo/EFO_1001321 | http://purl.obolibrary.org/obo/MONDO_0005271 |
Postpericardiotomy Syndrome | http://www.ebi.ac.uk/efo/EFO_1001404 | http://purl.obolibrary.org/obo/MONDO_0005271 |
food allergy | http://www.ebi.ac.uk/efo/EFO_1001890 | http://purl.obolibrary.org/obo/MONDO_0005271 |
nut allergic reaction | http://www.ebi.ac.uk/efo/EFO_1001066 | http://www.ebi.ac.uk/efo/EFO_1001890 |
wheat allergic reaction | http://www.ebi.ac.uk/efo/EFO_1001243 | http://www.ebi.ac.uk/efo/EFO_1001890 |
milk allergic reaction | http://www.ebi.ac.uk/efo/EFO_0007369 | http://www.ebi.ac.uk/efo/EFO_1001890 |
peanut allergic reaction | http://www.ebi.ac.uk/efo/EFO_0007425 | http://www.ebi.ac.uk/efo/EFO_1001890 |
egg allergy | http://www.ebi.ac.uk/efo/EFO_0007248 | http://www.ebi.ac.uk/efo/EFO_1001890 |
contact dermatitis | http://www.ebi.ac.uk/efo/EFO_0005319 | http://purl.obolibrary.org/obo/MONDO_0005271 |
contact dermatitis due to nickel | http://www.ebi.ac.uk/efo/EFO_0005320 | http://www.ebi.ac.uk/efo/EFO_0005319 |
occupational dermatitis | http://www.ebi.ac.uk/efo/EFO_1000744 | http://www.ebi.ac.uk/efo/EFO_0005319 |
irritant dermatitis | http://www.ebi.ac.uk/efo/EFO_1000718 | http://www.ebi.ac.uk/efo/EFO_0005319 |
phototoxic dermatitis | http://www.ebi.ac.uk/efo/EFO_1000753 | http://www.ebi.ac.uk/efo/EFO_1000718 |
allergic contact dermatitis | http://www.ebi.ac.uk/efo/EFO_1000668 | http://www.ebi.ac.uk/efo/EFO_0005319 |
toxicodendron dermatitis | http://www.ebi.ac.uk/efo/EFO_1000773 | http://www.ebi.ac.uk/efo/EFO_1000668 |
photoallergic dermatitis | http://purl.obolibrary.org/obo/MONDO_0006596 | http://www.ebi.ac.uk/efo/EFO_1000668 |
atopic eczema | http://www.ebi.ac.uk/efo/EFO_0000274 | http://purl.obolibrary.org/obo/MONDO_0005271 |
IgE responsiveness, atopic | http://purl.obolibrary.org/obo/MONDO_0007817 | http://www.ebi.ac.uk/efo/EFO_0000274 |
allergic urticaria | http://www.ebi.ac.uk/efo/EFO_1000669 | http://www.ebi.ac.uk/efo/EFO_0000274 |
recalcitrant atopic dermatitis | http://www.ebi.ac.uk/efo/EFO_1000651 | http://www.ebi.ac.uk/efo/EFO_0000274 |
atopy | http://www.ebi.ac.uk/efo/EFO_0002686 | http://purl.obolibrary.org/obo/MONDO_0005271 |
drug allergy | http://www.ebi.ac.uk/efo/EFO_0009482 | http://purl.obolibrary.org/obo/MONDO_0005271 |
photosensitivity disease | http://www.ebi.ac.uk/efo/EFO_1000752 | http://purl.obolibrary.org/obo/MONDO_0005271 |
skin sensitivity to sun | http://www.ebi.ac.uk/efo/EFO_0004795 | http://www.ebi.ac.uk/efo/EFO_1000752 |
polymorphic light eruption | http://purl.obolibrary.org/obo/MONDO_0041182 | http://www.ebi.ac.uk/efo/EFO_1000752 |
drug hypersensitivity syndrome | http://www.ebi.ac.uk/efo/EFO_1002004 | http://www.ebi.ac.uk/efo/EFO_1002003 |
lupus nephritis | http://www.ebi.ac.uk/efo/EFO_0005761 | http://www.ebi.ac.uk/efo/EFO_1002003 |
type II hypersensitivity reaction disease | http://www.ebi.ac.uk/efo/EFO_0005809 | http://www.ebi.ac.uk/efo/EFO_1002003 |
Vitiligo | http://www.ebi.ac.uk/efo/EFO_0004208 | http://www.ebi.ac.uk/efo/EFO_0005809 |
type III hypersensitivity reaction disease | http://www.ebi.ac.uk/efo/EFO_1001222 | http://www.ebi.ac.uk/efo/EFO_0005809 |
arthus reaction | http://www.ebi.ac.uk/efo/EFO_1000821 | http://www.ebi.ac.uk/efo/EFO_1001222 |
anti-neutrophil antibody associated vasculitis | http://www.ebi.ac.uk/efo/EFO_0004826 | http://www.ebi.ac.uk/efo/EFO_0005809 |
autoimmune bullous skin disease | http://www.ebi.ac.uk/efo/EFO_0008598 | http://www.ebi.ac.uk/efo/EFO_0005809 |
anti-p200 pemphigoid | http://www.ebi.ac.uk/efo/EFO_0008597 | http://www.ebi.ac.uk/efo/EFO_0008598 |
superficial pemphigus | http://purl.obolibrary.org/obo/MONDO_0018745 | http://www.ebi.ac.uk/efo/EFO_0008598 |
pemphigus erythematosus | http://www.ebi.ac.uk/efo/EFO_0008603 | http://purl.obolibrary.org/obo/MONDO_0018745 |
pemphigus foliaceus | http://www.ebi.ac.uk/efo/EFO_0008601 | http://purl.obolibrary.org/obo/MONDO_0018745 |
bullous pemphigoid | http://www.ebi.ac.uk/efo/EFO_0007187 | http://www.ebi.ac.uk/efo/EFO_0008598 |
epidermolysis bullosa acquisita | http://www.ebi.ac.uk/efo/EFO_1000691 | http://www.ebi.ac.uk/efo/EFO_0008598 |
dermatitis herpetiformis | http://www.ebi.ac.uk/efo/EFO_1000684 | http://www.ebi.ac.uk/efo/EFO_0008598 |
dermatitis herpetiformis, familial | http://purl.obolibrary.org/obo/MONDO_0011024 | http://www.ebi.ac.uk/efo/EFO_1000684 |
juvenile dermatitis herpetiformis | http://www.ebi.ac.uk/efo/EFO_1000719 | http://www.ebi.ac.uk/efo/EFO_1000684 |
mucous membrane pemphigoid | http://www.ebi.ac.uk/efo/EFO_1000680 | http://www.ebi.ac.uk/efo/EFO_0008598 |
vegetating cicatricial pemphigoid | http://www.ebi.ac.uk/efo/EFO_0008612 | http://www.ebi.ac.uk/efo/EFO_1000680 |
localised cicatricial pemphigoid | http://www.ebi.ac.uk/efo/EFO_0008611 | http://www.ebi.ac.uk/efo/EFO_1000680 |
ocular cicatricial pemphigoid | http://www.ebi.ac.uk/efo/EFO_0008610 | http://www.ebi.ac.uk/efo/EFO_1000680 |
subcorneal pustular dermatosis | http://www.ebi.ac.uk/efo/EFO_1000771 | http://www.ebi.ac.uk/efo/EFO_0008598 |
pemphigus | http://www.ebi.ac.uk/efo/EFO_1000749 | http://www.ebi.ac.uk/efo/EFO_0008598 |
Hailey-Hailey disease | http://purl.obolibrary.org/obo/MONDO_0008218 | http://www.ebi.ac.uk/efo/EFO_1000749 |
pemphigus vulgaris | http://www.ebi.ac.uk/efo/EFO_0004719 | http://www.ebi.ac.uk/efo/EFO_1000749 |
pemphigus vegetans | http://www.ebi.ac.uk/efo/EFO_0008613 | http://www.ebi.ac.uk/efo/EFO_0004719 |
IgG/IgA pemphigus | http://www.ebi.ac.uk/efo/EFO_0008605 | http://www.ebi.ac.uk/efo/EFO_1000749 |
IgA pemphigus | http://www.ebi.ac.uk/efo/EFO_0008604 | http://www.ebi.ac.uk/efo/EFO_1000749 |
radiotherapy-induced pemphigus | http://www.ebi.ac.uk/efo/EFO_0008608 | http://www.ebi.ac.uk/efo/EFO_1000749 |
drug-induced pemphigus | http://www.ebi.ac.uk/efo/EFO_0008607 | http://www.ebi.ac.uk/efo/EFO_1000749 |
pemphigus herpetiformis | http://www.ebi.ac.uk/efo/EFO_0008606 | http://www.ebi.ac.uk/efo/EFO_1000749 |
pemphigoid gestationis | http://www.ebi.ac.uk/efo/EFO_1000709 | http://www.ebi.ac.uk/efo/EFO_1000749 |
Linear IgA Dermatosis | http://www.ebi.ac.uk/efo/EFO_0009313 | http://www.ebi.ac.uk/efo/EFO_0008598 |
IgG4-related disease | http://purl.obolibrary.org/obo/MONDO_0017287 | http://www.ebi.ac.uk/efo/EFO_0005809 |
IgG4-related retroperitoneal fibrosis | http://purl.obolibrary.org/obo/MONDO_0018848 | http://purl.obolibrary.org/obo/MONDO_0017287 |
fibrosclerosis, multifocal | http://purl.obolibrary.org/obo/MONDO_0009230 | http://purl.obolibrary.org/obo/MONDO_0018848 |
autoimmune disorder of cardiovascular system | http://purl.obolibrary.org/obo/MONDO_0000603 | http://www.ebi.ac.uk/efo/EFO_0005809 |
autoimmune cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0030701 | http://purl.obolibrary.org/obo/MONDO_0000603 |
autoimmune disorder of musculoskeletal system | http://purl.obolibrary.org/obo/MONDO_0000589 | http://www.ebi.ac.uk/efo/EFO_0005809 |
autoimmune disorder of exocrine system | http://purl.obolibrary.org/obo/MONDO_0000586 | http://www.ebi.ac.uk/efo/EFO_0005809 |
type IV hypersensitivity disease | http://purl.obolibrary.org/obo/MONDO_0002459 | http://www.ebi.ac.uk/efo/EFO_0005809 |
cryoglobulinemia | http://www.ebi.ac.uk/efo/EFO_0005846 | http://purl.obolibrary.org/obo/MONDO_0002459 |
Goodpasture syndrome | http://www.ebi.ac.uk/efo/EFO_0007290 | http://www.ebi.ac.uk/efo/EFO_0005809 |
secondary neonatal autoimmune disease | http://purl.obolibrary.org/obo/MONDO_0018356 | http://www.ebi.ac.uk/efo/EFO_0005809 |
anaphylaxis | http://purl.obolibrary.org/obo/MONDO_0100053 | http://www.ebi.ac.uk/efo/EFO_1002003 |
idiopathic anaphylaxis | http://purl.obolibrary.org/obo/MONDO_0100054 | http://purl.obolibrary.org/obo/MONDO_0100053 |
antiphospholipid syndrome | http://www.ebi.ac.uk/efo/EFO_0002689 | http://www.ebi.ac.uk/efo/EFO_1002003 |
hypersensitivity vasculitis | http://www.ebi.ac.uk/efo/EFO_1000974 | http://www.ebi.ac.uk/efo/EFO_1002003 |
Henoch-Schoenlein purpura | http://www.ebi.ac.uk/efo/EFO_1000965 | http://www.ebi.ac.uk/efo/EFO_1002003 |
immunodeficiency-related disorder | http://purl.obolibrary.org/obo/MONDO_0024572 | http://www.ebi.ac.uk/efo/EFO_0000540 |
phagocytic cell dysfunction | http://purl.obolibrary.org/obo/MONDO_0024627 | http://www.ebi.ac.uk/efo/EFO_0000540 |
quantitative and/or qualitative congenital phagocyte defect | http://purl.obolibrary.org/obo/MONDO_0015133 | http://purl.obolibrary.org/obo/MONDO_0024627 |
functional neutrophil defect | http://purl.obolibrary.org/obo/MONDO_0015978 | http://purl.obolibrary.org/obo/MONDO_0015133 |
leukocyte adhesion deficiency | http://purl.obolibrary.org/obo/MONDO_0017570 | http://purl.obolibrary.org/obo/MONDO_0015978 |
leukocyte adhesion deficiency 1 | http://purl.obolibrary.org/obo/MONDO_0007293 | http://purl.obolibrary.org/obo/MONDO_0017570 |
specific granule deficiency | http://purl.obolibrary.org/obo/MONDO_0009506 | http://purl.obolibrary.org/obo/MONDO_0015978 |
myeloperoxidase deficiency | http://purl.obolibrary.org/obo/MONDO_0009694 | http://purl.obolibrary.org/obo/MONDO_0015978 |
defective phagocytic cell engulfment | http://purl.obolibrary.org/obo/MONDO_0024626 | http://purl.obolibrary.org/obo/MONDO_0024627 |
autoimmune disease | http://www.ebi.ac.uk/efo/EFO_0005140 | http://www.ebi.ac.uk/efo/EFO_0000540 |
oroficial granulomatosis | http://www.ebi.ac.uk/efo/EFO_1001820 | http://www.ebi.ac.uk/efo/EFO_0005140 |
Granulomatosis with Polyangiitis | http://www.ebi.ac.uk/efo/EFO_0005297 | http://www.ebi.ac.uk/efo/EFO_0005140 |
STAT3 gain of function | http://www.ebi.ac.uk/efo/EFO_0010647 | http://www.ebi.ac.uk/efo/EFO_0005140 |
immune deficiency disease | http://purl.obolibrary.org/obo/MONDO_0009453 | http://www.ebi.ac.uk/efo/EFO_0000540 |
inborn errors of immunity | http://purl.obolibrary.org/obo/MONDO_0003778 | http://purl.obolibrary.org/obo/MONDO_0009453 |
immunodeficiency 28 | http://purl.obolibrary.org/obo/MONDO_0013953 | http://purl.obolibrary.org/obo/MONDO_0003778 |
autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | http://purl.obolibrary.org/obo/MONDO_0017902 | http://purl.obolibrary.org/obo/MONDO_0013953 |
Primary immunodeficiency due to a defect in innate immunity | http://www.orpha.net/ORDO/Orphanet_101988 | http://purl.obolibrary.org/obo/MONDO_0003778 |
Immunodeficiency due to a complement cascade protein anomaly | http://www.orpha.net/ORDO/Orphanet_101992 | http://www.orpha.net/ORDO/Orphanet_101988 |
Complement component 3 deficiency | http://www.orpha.net/ORDO/Orphanet_280133 | http://www.orpha.net/ORDO/Orphanet_101992 |
Recurrent Neisseria infections due to factor D deficiency | http://www.orpha.net/ORDO/Orphanet_169467 | http://www.orpha.net/ORDO/Orphanet_101992 |
Immunodeficiency due to a late component of complements deficiency | http://www.orpha.net/ORDO/Orphanet_169150 | http://www.orpha.net/ORDO/Orphanet_101992 |
Properdin deficiency | http://www.orpha.net/ORDO/Orphanet_2966 | http://www.orpha.net/ORDO/Orphanet_101992 |
Immunodeficiency due to MASP-2 deficiency | http://www.orpha.net/ORDO/Orphanet_331187 | http://www.orpha.net/ORDO/Orphanet_101992 |
Immunodeficiency due to ficolin3 deficiency | http://www.orpha.net/ORDO/Orphanet_331190 | http://www.orpha.net/ORDO/Orphanet_101992 |
Immunodeficiency with factor H anomaly | http://www.orpha.net/ORDO/Orphanet_200421 | http://www.orpha.net/ORDO/Orphanet_101992 |
Constitutional neutropenia | http://www.orpha.net/ORDO/Orphanet_101987 | http://www.orpha.net/ORDO/Orphanet_101988 |
Severe congenital neutropenia | http://www.orpha.net/ORDO/Orphanet_42738 | http://www.orpha.net/ORDO/Orphanet_101987 |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | http://www.orpha.net/ORDO/Orphanet_331176 | http://www.orpha.net/ORDO/Orphanet_42738 |
Autosomal dominant severe congenital neutropenia | http://www.orpha.net/ORDO/Orphanet_486 | http://www.orpha.net/ORDO/Orphanet_42738 |
Constitutional neutropenia with extra-haematopoietic manifestations | http://www.orpha.net/ORDO/Orphanet_331184 | http://www.orpha.net/ORDO/Orphanet_101987 |
Poikiloderma with neutropenia | http://www.orpha.net/ORDO/Orphanet_221046 | http://www.orpha.net/ORDO/Orphanet_331184 |
Lichstenstein syndrome | http://www.orpha.net/ORDO/Orphanet_2390 | http://www.orpha.net/ORDO/Orphanet_331184 |
Recurrent infections-myelofibrosis-nephromegaly syndrome | http://www.orpha.net/ORDO/Orphanet_369852 | http://www.orpha.net/ORDO/Orphanet_331184 |
WHIM syndrome | http://www.orpha.net/ORDO/Orphanet_51636 | http://www.orpha.net/ORDO/Orphanet_331184 |
Primary immunodeficiency syndrome due to p14 deficiency | http://www.orpha.net/ORDO/Orphanet_90023 | http://www.orpha.net/ORDO/Orphanet_331184 |
Cyclic neutropenia | http://www.orpha.net/ORDO/Orphanet_2686 | http://www.orpha.net/ORDO/Orphanet_101987 |
Other immunodeficiency syndromes due to defects in innate immunity | http://www.orpha.net/ORDO/Orphanet_331193 | http://www.orpha.net/ORDO/Orphanet_101988 |
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema | http://www.orpha.net/ORDO/Orphanet_69088 | http://www.orpha.net/ORDO/Orphanet_331193 |
Epidermodysplasia verruciformis | http://www.orpha.net/ORDO/Orphanet_302 | http://www.orpha.net/ORDO/Orphanet_331193 |
Genetic susceptibility to infections due to particular pathogens | http://www.orpha.net/ORDO/Orphanet_183710 | http://www.orpha.net/ORDO/Orphanet_101988 |
Monocytopenia with susceptibility to infections | http://www.orpha.net/ORDO/Orphanet_228423 | http://www.orpha.net/ORDO/Orphanet_183710 |
Idiopathic CD4 lymphocytopenia | http://www.orpha.net/ORDO/Orphanet_228000 | http://www.orpha.net/ORDO/Orphanet_183710 |
Mendelian susceptibility to mycobacterial diseases | http://www.orpha.net/ORDO/Orphanet_748 | http://www.orpha.net/ORDO/Orphanet_183710 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency | http://www.orpha.net/ORDO/Orphanet_319539 | http://www.orpha.net/ORDO/Orphanet_748 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | http://www.orpha.net/ORDO/Orphanet_319569 | http://www.orpha.net/ORDO/Orphanet_319539 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | http://www.orpha.net/ORDO/Orphanet_319574 | http://www.orpha.net/ORDO/Orphanet_319539 |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency | http://www.orpha.net/ORDO/Orphanet_319535 | http://www.orpha.net/ORDO/Orphanet_748 |
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency | http://www.orpha.net/ORDO/Orphanet_99898 | http://www.orpha.net/ORDO/Orphanet_319535 |
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency | http://www.orpha.net/ORDO/Orphanet_319558 | http://www.orpha.net/ORDO/Orphanet_319535 |
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | http://www.orpha.net/ORDO/Orphanet_319563 | http://www.orpha.net/ORDO/Orphanet_319535 |
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency | http://www.orpha.net/ORDO/Orphanet_319547 | http://www.orpha.net/ORDO/Orphanet_319535 |
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | http://www.orpha.net/ORDO/Orphanet_319552 | http://www.orpha.net/ORDO/Orphanet_319535 |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency | http://www.orpha.net/ORDO/Orphanet_319543 | http://www.orpha.net/ORDO/Orphanet_748 |
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency | http://www.orpha.net/ORDO/Orphanet_319600 | http://www.orpha.net/ORDO/Orphanet_319543 |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency | http://www.orpha.net/ORDO/Orphanet_319581 | http://www.orpha.net/ORDO/Orphanet_319543 |
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency | http://www.orpha.net/ORDO/Orphanet_319589 | http://www.orpha.net/ORDO/Orphanet_319543 |
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | http://www.orpha.net/ORDO/Orphanet_319595 | http://www.orpha.net/ORDO/Orphanet_319543 |
Susceptibility to viral and mycobacterial infections | http://www.orpha.net/ORDO/Orphanet_391311 | http://www.orpha.net/ORDO/Orphanet_183710 |
Pyogenic bacterial infections due to MyD88 deficiency | http://www.orpha.net/ORDO/Orphanet_183713 | http://www.orpha.net/ORDO/Orphanet_183710 |
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | http://www.orpha.net/ORDO/Orphanet_70592 | http://www.orpha.net/ORDO/Orphanet_183710 |
Chronic mucocutaneous candidosis | http://www.orpha.net/ORDO/Orphanet_1334 | http://www.orpha.net/ORDO/Orphanet_183710 |
Herpetic encephalitis | http://www.orpha.net/ORDO/Orphanet_1930 | http://www.orpha.net/ORDO/Orphanet_183710 |
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency | http://www.orpha.net/ORDO/Orphanet_75391 | http://www.orpha.net/ORDO/Orphanet_101988 |
Functional neutrophil defect | http://www.orpha.net/ORDO/Orphanet_183681 | http://www.orpha.net/ORDO/Orphanet_101988 |
Myeloperoxidase deficiency | http://www.orpha.net/ORDO/Orphanet_2587 | http://www.orpha.net/ORDO/Orphanet_183681 |
Recurrent infection due to specific granule deficiency | http://www.orpha.net/ORDO/Orphanet_169142 | http://www.orpha.net/ORDO/Orphanet_183681 |
Leukocyte adhesion deficiency | http://www.orpha.net/ORDO/Orphanet_2968 | http://www.orpha.net/ORDO/Orphanet_183681 |
Leukocyte adhesion deficiency type III | http://www.orpha.net/ORDO/Orphanet_99844 | http://www.orpha.net/ORDO/Orphanet_2968 |
Leukocyte adhesion deficiency type I | http://www.orpha.net/ORDO/Orphanet_99842 | http://www.orpha.net/ORDO/Orphanet_2968 |
Chronic granulomatous disease | http://www.orpha.net/ORDO/Orphanet_379 | http://www.orpha.net/ORDO/Orphanet_183681 |
Neutrophil immunodeficiency syndrome | http://www.orpha.net/ORDO/Orphanet_183707 | http://www.orpha.net/ORDO/Orphanet_183681 |
Autoinflammatory syndrome with immune deficiency | http://www.orpha.net/ORDO/Orphanet_290839 | http://www.orpha.net/ORDO/Orphanet_101988 |
Cryopyrin-associated periodic syndrome | http://www.orpha.net/ORDO/Orphanet_208650 | http://www.orpha.net/ORDO/Orphanet_290839 |
Familial cold urticaria | http://www.orpha.net/ORDO/Orphanet_47045 | http://www.orpha.net/ORDO/Orphanet_208650 |
Pyogenic arthritis - pyoderma gangrenosum - acne | http://www.orpha.net/ORDO/Orphanet_69126 | http://www.orpha.net/ORDO/Orphanet_290839 |
Tumor necrosis factor receptor 1 associated periodic syndrome | http://www.orpha.net/ORDO/Orphanet_32960 | http://www.orpha.net/ORDO/Orphanet_290839 |
Familial Mediterranean fever | http://www.orpha.net/ORDO/Orphanet_342 | http://www.orpha.net/ORDO/Orphanet_290839 |
Sterile multifocal osteomyelitis with periostitis and pustulosis | http://www.orpha.net/ORDO/Orphanet_210115 | http://www.orpha.net/ORDO/Orphanet_290839 |
Macrocephaly - immune deficiency - anemia | http://www.orpha.net/ORDO/Orphanet_94061 | http://purl.obolibrary.org/obo/MONDO_0003778 |
primary immunodeficiency due to a defect in adaptive immunity | http://purl.obolibrary.org/obo/MONDO_0015823 | http://purl.obolibrary.org/obo/MONDO_0003778 |
combined immunodeficiency due to CRAC channel dysfunction | http://purl.obolibrary.org/obo/MONDO_0015695 | http://purl.obolibrary.org/obo/MONDO_0015823 |
combined immunodeficiency due to ORAI1 deficiency | http://purl.obolibrary.org/obo/MONDO_0013007 | http://purl.obolibrary.org/obo/MONDO_0015695 |
combined immunodeficiency due to STIM1 deficiency | http://purl.obolibrary.org/obo/MONDO_0013008 | http://purl.obolibrary.org/obo/MONDO_0015695 |
immuno-osseous dysplasia | http://purl.obolibrary.org/obo/MONDO_0015708 | http://purl.obolibrary.org/obo/MONDO_0015823 |
immunodeficiency predominantly affecting antibody production | http://purl.obolibrary.org/obo/MONDO_0015132 | http://purl.obolibrary.org/obo/MONDO_0015823 |
immunoglobulin heavy chain deficiency | http://purl.obolibrary.org/obo/MONDO_0015697 | http://purl.obolibrary.org/obo/MONDO_0015132 |
recurrent infections associated with rare immunoglobulin isotypes deficiency | http://purl.obolibrary.org/obo/MONDO_0013576 | http://purl.obolibrary.org/obo/MONDO_0015132 |
X-linked immunoneurologic disorder | http://purl.obolibrary.org/obo/MONDO_0010243 | http://purl.obolibrary.org/obo/MONDO_0015132 |
microcephaly, growth restriction and increased sister chromatid exchange | http://purl.obolibrary.org/obo/MONDO_0020629 | http://purl.obolibrary.org/obo/MONDO_0015823 |
microcephaly, growth restriction, and increased sister chromatid exchange 2 | http://purl.obolibrary.org/obo/MONDO_0020628 | http://purl.obolibrary.org/obo/MONDO_0020629 |
absent thumb-short stature-immunodeficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0010123 | http://purl.obolibrary.org/obo/MONDO_0015823 |
primary immunodeficiency due to a genetic defect in innate immunity | http://purl.obolibrary.org/obo/MONDO_0015135 | http://purl.obolibrary.org/obo/MONDO_0003778 |
T-cell immunodeficiency with epidermodysplasia verruciformis | http://purl.obolibrary.org/obo/MONDO_0017925 | http://purl.obolibrary.org/obo/MONDO_0015135 |
epidermodysplasia verruciformis | http://purl.obolibrary.org/obo/MONDO_0009176 | http://purl.obolibrary.org/obo/MONDO_0015135 |
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | http://purl.obolibrary.org/obo/MONDO_0014313 | http://purl.obolibrary.org/obo/MONDO_0015135 |
properdin deficiency, X-linked | http://purl.obolibrary.org/obo/MONDO_0010713 | http://purl.obolibrary.org/obo/MONDO_0003778 |
immunodeficiency 47 | http://purl.obolibrary.org/obo/MONDO_0010504 | http://purl.obolibrary.org/obo/MONDO_0003778 |
lymphoproliferative syndrome | http://purl.obolibrary.org/obo/MONDO_0016537 | http://purl.obolibrary.org/obo/MONDO_0003778 |
Dianzani autoimmune lymphoproliferative disease | http://purl.obolibrary.org/obo/MONDO_0011524 | http://purl.obolibrary.org/obo/MONDO_0016537 |
Primary immunodeficiency due to a defect in adaptive immunity | http://www.orpha.net/ORDO/Orphanet_179006 | http://purl.obolibrary.org/obo/MONDO_0003778 |
Combined T and B cell immunodeficiency | http://www.orpha.net/ORDO/Orphanet_101972 | http://www.orpha.net/ORDO/Orphanet_179006 |
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency | http://www.orpha.net/ORDO/Orphanet_231154 | http://www.orpha.net/ORDO/Orphanet_101972 |
Combined immunodeficiency with facio-oculo-skeletal anomalies | http://www.orpha.net/ORDO/Orphanet_221139 | http://www.orpha.net/ORDO/Orphanet_101972 |
Combined immunodeficiency due to STK4 deficiency | http://www.orpha.net/ORDO/Orphanet_314689 | http://www.orpha.net/ORDO/Orphanet_101972 |
Combined immunodeficiency due to CRAC channel dysfunction | http://www.orpha.net/ORDO/Orphanet_169090 | http://www.orpha.net/ORDO/Orphanet_101972 |
Combined immunodeficiency due to ORAI1 deficiency | http://www.orpha.net/ORDO/Orphanet_317428 | http://www.orpha.net/ORDO/Orphanet_169090 |
Combined immunodeficiency due to STIM1 deficiency | http://www.orpha.net/ORDO/Orphanet_317430 | http://www.orpha.net/ORDO/Orphanet_169090 |
Alymphoid cystic thymic dysgenesis | http://www.orpha.net/ORDO/Orphanet_169095 | http://www.orpha.net/ORDO/Orphanet_101972 |
Combined immunodeficiency due to CD3gamma deficiency | http://www.orpha.net/ORDO/Orphanet_169082 | http://www.orpha.net/ORDO/Orphanet_101972 |
Susceptibility to respiratory infections associated with CD8alpha chain mutation | http://www.orpha.net/ORDO/Orphanet_169085 | http://www.orpha.net/ORDO/Orphanet_101972 |
Combined immunodeficiency due to ZAP70 deficiency | http://www.orpha.net/ORDO/Orphanet_911 | http://www.orpha.net/ORDO/Orphanet_101972 |
Absent thumb - short stature - immunodeficiency | http://www.orpha.net/ORDO/Orphanet_2951 | http://www.orpha.net/ORDO/Orphanet_101972 |
Immunodeficiency by defective expression of HLA class 1 | http://www.orpha.net/ORDO/Orphanet_34592 | http://www.orpha.net/ORDO/Orphanet_101972 |
Immunodeficiency by defective expression of HLA class 2 | http://www.orpha.net/ORDO/Orphanet_572 | http://www.orpha.net/ORDO/Orphanet_101972 |
Cryptosporidiosis - chronic cholangitis - liver disease | http://www.orpha.net/ORDO/Orphanet_357329 | http://www.orpha.net/ORDO/Orphanet_101972 |
Pancytopenia due to IKZF1 mutations | http://www.orpha.net/ORDO/Orphanet_317473 | http://www.orpha.net/ORDO/Orphanet_101972 |
Severe combined immunodeficiency | http://www.orpha.net/ORDO/Orphanet_183660 | http://www.orpha.net/ORDO/Orphanet_101972 |
partial adenosine deaminase deficiency | http://www.ebi.ac.uk/efo/EFO_0009147 | http://www.orpha.net/ORDO/Orphanet_183660 |
Hyper-IgM syndrome with susceptibility to opportunistic infections | http://www.orpha.net/ORDO/Orphanet_183663 | http://www.orpha.net/ORDO/Orphanet_101972 |
X-linked hyper-IgM syndrome | http://www.orpha.net/ORDO/Orphanet_101088 | http://www.orpha.net/ORDO/Orphanet_183663 |
Hyper-IgM syndrome type 3 | http://www.orpha.net/ORDO/Orphanet_101090 | http://www.orpha.net/ORDO/Orphanet_183663 |
LIG4 syndrome | http://www.orpha.net/ORDO/Orphanet_99812 | http://www.orpha.net/ORDO/Orphanet_101972 |
Combined immunodeficiency due to MALT1 deficiency | http://www.orpha.net/ORDO/Orphanet_397964 | http://www.orpha.net/ORDO/Orphanet_101972 |
Combined immunodeficiency with skin granulomas | http://www.orpha.net/ORDO/Orphanet_157949 | http://www.orpha.net/ORDO/Orphanet_101972 |
Activated PIK3-delta syndrome | http://www.orpha.net/ORDO/Orphanet_397596 | http://www.orpha.net/ORDO/Orphanet_101972 |
Immunodeficiency predominantly affecting antibody production | http://www.orpha.net/ORDO/Orphanet_101977 | http://www.orpha.net/ORDO/Orphanet_179006 |
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells | http://www.orpha.net/ORDO/Orphanet_169443 | http://www.orpha.net/ORDO/Orphanet_101977 |
Immunodeficiency due to selective anti-polysaccharide antibody deficiency | http://www.orpha.net/ORDO/Orphanet_70593 | http://www.orpha.net/ORDO/Orphanet_169443 |
Transient hypogammaglobulinemia of infancy | http://www.orpha.net/ORDO/Orphanet_169139 | http://www.orpha.net/ORDO/Orphanet_101977 |
Other immunodeficiency syndrome with predominantly antibody defects | http://www.orpha.net/ORDO/Orphanet_331244 | http://www.orpha.net/ORDO/Orphanet_101977 |
Low birth weight - dwarfism - dysgammaglobulinemia | http://www.orpha.net/ORDO/Orphanet_2621 | http://www.orpha.net/ORDO/Orphanet_331244 |
Osteopetrosis - hypogammaglobulinemia | http://www.orpha.net/ORDO/Orphanet_178389 | http://www.orpha.net/ORDO/Orphanet_331244 |
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells | http://www.orpha.net/ORDO/Orphanet_331240 | http://www.orpha.net/ORDO/Orphanet_101977 |
Hyper-IgM syndrome without susceptibility to opportunistic infections | http://www.orpha.net/ORDO/Orphanet_183666 | http://www.orpha.net/ORDO/Orphanet_331240 |
Hyper-IgM syndrome type 2 | http://www.orpha.net/ORDO/Orphanet_101089 | http://www.orpha.net/ORDO/Orphanet_183666 |
Hyper-IgM syndrome type 5 | http://www.orpha.net/ORDO/Orphanet_101092 | http://www.orpha.net/ORDO/Orphanet_183666 |
Hyper-IgM syndrome type 4 | http://www.orpha.net/ORDO/Orphanet_101091 | http://www.orpha.net/ORDO/Orphanet_183666 |
Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells | http://www.orpha.net/ORDO/Orphanet_331232 | http://www.orpha.net/ORDO/Orphanet_101977 |
Immunoglobulin heavy chain deficiency | http://www.orpha.net/ORDO/Orphanet_169110 | http://www.orpha.net/ORDO/Orphanet_331232 |
Selective IgM deficiency | http://www.orpha.net/ORDO/Orphanet_331235 | http://www.orpha.net/ORDO/Orphanet_331232 |
Recurrent infections associated with rare immunoglobulin isotypes deficiency | http://www.orpha.net/ORDO/Orphanet_183675 | http://www.orpha.net/ORDO/Orphanet_331232 |
Agammaglobulinemia | http://www.orpha.net/ORDO/Orphanet_183669 | http://www.orpha.net/ORDO/Orphanet_101977 |
Isolated agammaglobulinemia | http://www.orpha.net/ORDO/Orphanet_229717 | http://www.orpha.net/ORDO/Orphanet_183669 |
Autosomal agammaglobulinemia | http://www.orpha.net/ORDO/Orphanet_33110 | http://www.orpha.net/ORDO/Orphanet_229717 |
X-linked agammaglobulinemia | http://www.orpha.net/ORDO/Orphanet_47 | http://www.orpha.net/ORDO/Orphanet_229717 |
Syndromic agammaglobulinemia | http://www.orpha.net/ORDO/Orphanet_229720 | http://www.orpha.net/ORDO/Orphanet_183669 |
Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis | http://www.orpha.net/ORDO/Orphanet_83617 | http://www.orpha.net/ORDO/Orphanet_229720 |
Common variable immunodeficiency | http://www.orpha.net/ORDO/Orphanet_1572 | http://www.orpha.net/ORDO/Orphanet_101977 |
autosomal dominant common variable immunodeficiency | http://www.ebi.ac.uk/efo/EFO_0020035 | http://www.orpha.net/ORDO/Orphanet_1572 |
Familial isolated congenital asplenia | http://www.orpha.net/ORDO/Orphanet_101351 | http://www.orpha.net/ORDO/Orphanet_179006 |
Immune dysregulation disease with immunodeficiency | http://www.orpha.net/ORDO/Orphanet_169361 | http://www.orpha.net/ORDO/Orphanet_179006 |
Immunodeficiency syndrome with autoimmunity | http://www.orpha.net/ORDO/Orphanet_169355 | http://www.orpha.net/ORDO/Orphanet_169361 |
Immunodeficiency due to CD25 deficiency | http://www.orpha.net/ORDO/Orphanet_169100 | http://www.orpha.net/ORDO/Orphanet_169355 |
RAS-associated autoimmune leukoproliferative disease | http://www.orpha.net/ORDO/Orphanet_268114 | http://www.orpha.net/ORDO/Orphanet_169355 |
Autoimmune lymphoproliferative syndrome | http://www.orpha.net/ORDO/Orphanet_3261 | http://www.orpha.net/ORDO/Orphanet_169355 |
Autoimmune lymphoproliferative syndrome with recurrent viral infections | http://www.orpha.net/ORDO/Orphanet_275517 | http://www.orpha.net/ORDO/Orphanet_169355 |
Primary hemophagocytic lymphohistiocytosis | http://www.orpha.net/ORDO/Orphanet_158038 | http://www.orpha.net/ORDO/Orphanet_169361 |
X-linked lymphoproliferative disease | http://www.orpha.net/ORDO/Orphanet_2442 | http://www.orpha.net/ORDO/Orphanet_158038 |
Immunodeficiency syndrome with hypopigmentation | http://www.orpha.net/ORDO/Orphanet_331249 | http://www.orpha.net/ORDO/Orphanet_158038 |
Familial hemophagocytic lymphohistiocytosis | http://www.orpha.net/ORDO/Orphanet_540 | http://www.orpha.net/ORDO/Orphanet_158038 |
Autosomal recessive lymphoproliferative disease | http://www.orpha.net/ORDO/Orphanet_238505 | http://www.orpha.net/ORDO/Orphanet_158038 |
Lymphoproliferative syndrome | http://www.orpha.net/ORDO/Orphanet_238510 | http://www.orpha.net/ORDO/Orphanet_169361 |
PLCG2-associated antibody deficiency and immune dysregulation | http://www.orpha.net/ORDO/Orphanet_300359 | http://www.orpha.net/ORDO/Orphanet_169361 |
familial Behcet-like autoinflammatory syndrome | http://www.ebi.ac.uk/efo/EFO_0020034 | http://purl.obolibrary.org/obo/MONDO_0003778 |
Rare genetic immune disease | http://www.orpha.net/ORDO/Orphanet_183770 | http://www.ebi.ac.uk/efo/EFO_0000540 |
Hereditary neutrophilia | http://www.orpha.net/ORDO/Orphanet_279943 | http://www.orpha.net/ORDO/Orphanet_183770 |
myositis | http://www.ebi.ac.uk/efo/EFO_0000783 | http://www.ebi.ac.uk/efo/EFO_0000540 |
idiopathic inflammatory myopathy | http://purl.obolibrary.org/obo/MONDO_0600023 | http://www.ebi.ac.uk/efo/EFO_0000783 |
acquired idiopathic inflammatory myopathy | http://purl.obolibrary.org/obo/MONDO_0020122 | http://purl.obolibrary.org/obo/MONDO_0600023 |
Antisynthetase syndrome | http://www.ebi.ac.uk/efo/EFO_1001982 | http://purl.obolibrary.org/obo/MONDO_0020122 |
juvenile idiopathic inflammatory myopathy | http://purl.obolibrary.org/obo/MONDO_0018010 | http://purl.obolibrary.org/obo/MONDO_0020122 |
inclusion body myositis | http://www.ebi.ac.uk/efo/EFO_0007323 | http://www.ebi.ac.uk/efo/EFO_0000783 |
myopathy, proximal, and ophthalmoplegia | http://purl.obolibrary.org/obo/MONDO_0011577 | http://www.ebi.ac.uk/efo/EFO_0007323 |
hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome | http://purl.obolibrary.org/obo/MONDO_0019195 | http://purl.obolibrary.org/obo/MONDO_0011577 |
rag2 deficiency | http://www.ebi.ac.uk/efo/EFO_0009651 | http://www.ebi.ac.uk/efo/EFO_0000540 |
head and neck disorder | http://www.ebi.ac.uk/efo/EFO_0000524 | http://www.ebi.ac.uk/efo/EFO_0000408 |
throat disease | http://www.ebi.ac.uk/efo/EFO_0009479 | http://www.ebi.ac.uk/efo/EFO_0000524 |
cervical disc degenerative disorder | http://www.ebi.ac.uk/efo/EFO_0009537 | http://www.ebi.ac.uk/efo/EFO_0000524 |
genetic disorder | http://www.ebi.ac.uk/efo/EFO_0000508 | http://www.ebi.ac.uk/efo/EFO_0000408 |
cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | http://purl.obolibrary.org/obo/MONDO_0013809 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Rare genetic vascular disease | http://www.orpha.net/ORDO/Orphanet_233655 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Generalized arterial calcification of infancy | http://www.orpha.net/ORDO/Orphanet_51608 | http://www.orpha.net/ORDO/Orphanet_233655 |
Rare disease with thoracic aortic aneurysm and aortic dissection | http://www.orpha.net/ORDO/Orphanet_285014 | http://www.orpha.net/ORDO/Orphanet_233655 |
Lethal arteriopathy syndrome due to fibulin-4 deficiency | http://www.orpha.net/ORDO/Orphanet_314718 | http://www.orpha.net/ORDO/Orphanet_285014 |
Familial bicuspid aortic valve | http://www.orpha.net/ORDO/Orphanet_402075 | http://www.orpha.net/ORDO/Orphanet_285014 |
Hereditary arterial and articular multiple calcification syndrome | http://www.orpha.net/ORDO/Orphanet_289601 | http://www.orpha.net/ORDO/Orphanet_233655 |
Familial abdominal aortic aneurysm | http://www.orpha.net/ORDO/Orphanet_86 | http://www.orpha.net/ORDO/Orphanet_233655 |
osteitis deformans | http://www.ebi.ac.uk/efo/EFO_0004261 | http://www.ebi.ac.uk/efo/EFO_0000508 |
juvenile Paget disease | http://purl.obolibrary.org/obo/MONDO_0009394 | http://www.ebi.ac.uk/efo/EFO_0004261 |
focal segmental glomerulosclerosis | http://www.ebi.ac.uk/efo/EFO_0004236 | http://www.ebi.ac.uk/efo/EFO_0000508 |
glucocorticoid therapy, response to | http://purl.obolibrary.org/obo/MONDO_0013732 | http://www.ebi.ac.uk/efo/EFO_0000508 |
MEGF10-Related Myopathy | http://purl.obolibrary.org/obo/MONDO_0013731 | http://www.ebi.ac.uk/efo/EFO_0000508 |
metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | http://purl.obolibrary.org/obo/MONDO_0013941 | http://www.ebi.ac.uk/efo/EFO_0000508 |
arhinia, choanal atresia, and microphthalmia | http://purl.obolibrary.org/obo/MONDO_0011323 | http://www.ebi.ac.uk/efo/EFO_0000508 |
wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia | http://purl.obolibrary.org/obo/MONDO_0011501 | http://www.ebi.ac.uk/efo/EFO_0000508 |
autoinflammation with arthritis and dyskeratosis | http://purl.obolibrary.org/obo/MONDO_0060457 | http://www.ebi.ac.uk/efo/EFO_0000508 |
growth hormone-secreting pituitary adenoma | http://www.ebi.ac.uk/efo/EFO_0004125 | http://www.ebi.ac.uk/efo/EFO_0000508 |
hereditary nephritis | http://www.ebi.ac.uk/efo/EFO_0004128 | http://www.ebi.ac.uk/efo/EFO_0000508 |
C3 glomerulonephritis | http://purl.obolibrary.org/obo/MONDO_0013892 | http://www.ebi.ac.uk/efo/EFO_0004128 |
karyomegalic interstitial nephritis | http://purl.obolibrary.org/obo/MONDO_0013898 | http://www.ebi.ac.uk/efo/EFO_0004128 |
idiopathic membranous glomerulonephritis | http://purl.obolibrary.org/obo/MONDO_0013860 | http://www.ebi.ac.uk/efo/EFO_0004128 |
IGA glomerulonephritis | http://www.ebi.ac.uk/efo/EFO_0004194 | http://www.ebi.ac.uk/efo/EFO_0004128 |
Karyomegalic interstitial nephritis | http://www.orpha.net/ORDO/Orphanet_401996 | http://www.ebi.ac.uk/efo/EFO_0004128 |
Balkan nephropathy | http://www.ebi.ac.uk/efo/EFO_0007164 | http://www.ebi.ac.uk/efo/EFO_0004128 |
mullerian aplasia and hyperandrogenism | http://purl.obolibrary.org/obo/MONDO_0008019 | http://www.ebi.ac.uk/efo/EFO_0000508 |
metaphyseal dysplasia, Braun-Tinschert type | http://purl.obolibrary.org/obo/MONDO_0011620 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Raynaud disease | http://www.ebi.ac.uk/efo/EFO_1001145 | http://www.ebi.ac.uk/efo/EFO_0000508 |
facial palsy, congenital, with ptosis and velopharyngeal dysfunction | http://purl.obolibrary.org/obo/MONDO_0060589 | http://www.ebi.ac.uk/efo/EFO_0000508 |
immunodeficiency, developmental delay, and hypohomocysteinemia | http://purl.obolibrary.org/obo/MONDO_0060591 | http://www.ebi.ac.uk/efo/EFO_0000508 |
platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | http://purl.obolibrary.org/obo/MONDO_0060583 | http://www.ebi.ac.uk/efo/EFO_0000508 |
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | http://purl.obolibrary.org/obo/MONDO_0060549 | http://www.ebi.ac.uk/efo/EFO_0000508 |
cerebellar atrophy, developmental delay, and seizures | http://purl.obolibrary.org/obo/MONDO_0060551 | http://www.ebi.ac.uk/efo/EFO_0000508 |
congenital heart defects and skeletal malformations syndrome | http://purl.obolibrary.org/obo/MONDO_0060532 | http://www.ebi.ac.uk/efo/EFO_0000508 |
microcephaly, short stature, and limb abnormalities | http://purl.obolibrary.org/obo/MONDO_0060533 | http://www.ebi.ac.uk/efo/EFO_0000508 |
retinal dystrophy with or without macular staphyloma | http://purl.obolibrary.org/obo/MONDO_0060507 | http://www.ebi.ac.uk/efo/EFO_0000508 |
maleylacetoacetate isomerase deficiency | http://purl.obolibrary.org/obo/MONDO_0060527 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Cohen-Gibson syndrome | http://purl.obolibrary.org/obo/MONDO_0060510 | http://www.ebi.ac.uk/efo/EFO_0000508 |
ophthalmomandibulomelic dysplasia | http://purl.obolibrary.org/obo/MONDO_0008127 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Meckel's diverticulum | http://www.ebi.ac.uk/efo/EFO_1001036 | http://www.ebi.ac.uk/efo/EFO_0000508 |
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | http://purl.obolibrary.org/obo/MONDO_0060666 | http://www.ebi.ac.uk/efo/EFO_0000508 |
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | http://purl.obolibrary.org/obo/MONDO_0060611 | http://www.ebi.ac.uk/efo/EFO_0000508 |
tubular aggregate myopathy | http://purl.obolibrary.org/obo/MONDO_0008051 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Kartagener Syndrome | http://www.ebi.ac.uk/efo/EFO_1001352 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Leukocyte-Adhesion Deficiency Syndrome | http://www.ebi.ac.uk/efo/EFO_1001359 | http://www.ebi.ac.uk/efo/EFO_0000508 |
pigmented purpuric eruption | http://purl.obolibrary.org/obo/MONDO_0008248 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Camptosynpolydactyly, complex | http://purl.obolibrary.org/obo/MONDO_0011853 | http://www.ebi.ac.uk/efo/EFO_0000508 |
intellectual developmental disorder with or without epilepsy or cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0060745 | http://www.ebi.ac.uk/efo/EFO_0000508 |
humerofemoral hypoplasia with radiotibial ray deficiency | http://purl.obolibrary.org/obo/MONDO_0060733 | http://www.ebi.ac.uk/efo/EFO_0000508 |
laminopathy | http://purl.obolibrary.org/obo/MONDO_0021106 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Pelger-Huet anomaly | http://www.ebi.ac.uk/efo/EFO_1001093 | http://purl.obolibrary.org/obo/MONDO_0021106 |
Buschke-Ollendorff syndrome | http://purl.obolibrary.org/obo/MONDO_0008157 | http://purl.obolibrary.org/obo/MONDO_0021106 |
isolated osteopoikilosis | http://purl.obolibrary.org/obo/MONDO_0015634 | http://purl.obolibrary.org/obo/MONDO_0008157 |
melorheostosis with osteopoikilosis | http://purl.obolibrary.org/obo/MONDO_0015995 | http://purl.obolibrary.org/obo/MONDO_0008157 |
osteoglophonic dwarfism | http://purl.obolibrary.org/obo/MONDO_0008150 | http://www.ebi.ac.uk/efo/EFO_0000508 |
deafness, congenital heart defects, and posterior embryotoxon | http://purl.obolibrary.org/obo/MONDO_0060713 | http://www.ebi.ac.uk/efo/EFO_0000508 |
retinal arterial tortuosity | http://purl.obolibrary.org/obo/MONDO_0008373 | http://www.ebi.ac.uk/efo/EFO_0000508 |
recombinant 8 syndrome | http://purl.obolibrary.org/obo/MONDO_0008365 | http://www.ebi.ac.uk/efo/EFO_0000508 |
ureterocele | http://www.ebi.ac.uk/efo/EFO_1001227 | http://www.ebi.ac.uk/efo/EFO_0000508 |
zinc deficiency, transient neonatal | http://purl.obolibrary.org/obo/MONDO_0011973 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Coxa Vara | http://www.ebi.ac.uk/efo/EFO_1001298 | http://www.ebi.ac.uk/efo/EFO_0000508 |
genetic hypertension | http://purl.obolibrary.org/obo/MONDO_0015512 | http://www.ebi.ac.uk/efo/EFO_0000508 |
pseudohyperaldosteronism type 2 | http://purl.obolibrary.org/obo/MONDO_0011517 | http://purl.obolibrary.org/obo/MONDO_0015512 |
autosomal dominant progressive nephropathy with hypertension | http://purl.obolibrary.org/obo/MONDO_0008071 | http://purl.obolibrary.org/obo/MONDO_0015512 |
pseudohypoaldosteronism type 2 | http://purl.obolibrary.org/obo/MONDO_0019162 | http://purl.obolibrary.org/obo/MONDO_0015512 |
pseudohypoaldosteronism type 2E | http://purl.obolibrary.org/obo/MONDO_0013782 | http://purl.obolibrary.org/obo/MONDO_0019162 |
pseudohypoaldosteronism type 2D | http://purl.obolibrary.org/obo/MONDO_0013781 | http://purl.obolibrary.org/obo/MONDO_0019162 |
pseudohypoaldosteronism type 2B | http://purl.obolibrary.org/obo/MONDO_0013777 | http://purl.obolibrary.org/obo/MONDO_0019162 |
pseudohypoaldosteronism type 2C | http://purl.obolibrary.org/obo/MONDO_0013778 | http://purl.obolibrary.org/obo/MONDO_0019162 |
pseudohypoaldosteronism type 2A | http://purl.obolibrary.org/obo/MONDO_0007772 | http://purl.obolibrary.org/obo/MONDO_0019162 |
essential hypertension, genetic | http://purl.obolibrary.org/obo/MONDO_0007781 | http://purl.obolibrary.org/obo/MONDO_0015512 |
malignant hypertensive renal disease | http://purl.obolibrary.org/obo/MONDO_0000959 | http://purl.obolibrary.org/obo/MONDO_0015512 |
malignant renovascular hypertension | http://purl.obolibrary.org/obo/MONDO_0001784 | http://purl.obolibrary.org/obo/MONDO_0000959 |
preeclampsia | http://www.ebi.ac.uk/efo/EFO_0000668 | http://purl.obolibrary.org/obo/MONDO_0015512 |
severe pre-eclampsia | http://purl.obolibrary.org/obo/MONDO_0001641 | http://www.ebi.ac.uk/efo/EFO_0000668 |
Klippel-Feil syndrome | http://purl.obolibrary.org/obo/MONDO_0001029 | http://www.ebi.ac.uk/efo/EFO_0000508 |
isolated Klippel-Feil syndrome | http://purl.obolibrary.org/obo/MONDO_0016520 | http://purl.obolibrary.org/obo/MONDO_0001029 |
Rare genetic cardiac disease | http://www.orpha.net/ORDO/Orphanet_98054 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Genetic cardiac rhythm disease | http://www.orpha.net/ORDO/Orphanet_101934 | http://www.orpha.net/ORDO/Orphanet_98054 |
Congenital heart block | http://www.orpha.net/ORDO/Orphanet_60041 | http://www.orpha.net/ORDO/Orphanet_101934 |
Histiocytoid cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_137675 | http://www.orpha.net/ORDO/Orphanet_101934 |
Idiopathic ventricular fibrillation, not Brugada type | http://www.orpha.net/ORDO/Orphanet_228140 | http://www.orpha.net/ORDO/Orphanet_101934 |
Cardiodysrhythmic potassium-sensitive periodic paralysis | http://www.orpha.net/ORDO/Orphanet_37553 | http://www.orpha.net/ORDO/Orphanet_101934 |
Heart-hand syndrome, Slovenian type | http://www.orpha.net/ORDO/Orphanet_168796 | http://www.orpha.net/ORDO/Orphanet_101934 |
Familial sick sinus syndrome | http://www.orpha.net/ORDO/Orphanet_166282 | http://www.orpha.net/ORDO/Orphanet_101934 |
Familial progressive cardiac conduction defect | http://www.orpha.net/ORDO/Orphanet_871 | http://www.orpha.net/ORDO/Orphanet_101934 |
Atrial tachyarrhythmia with short PR interval | http://www.orpha.net/ORDO/Orphanet_844 | http://www.orpha.net/ORDO/Orphanet_101934 |
Brachydactyly - long thumb | http://www.orpha.net/ORDO/Orphanet_2946 | http://www.orpha.net/ORDO/Orphanet_101934 |
Familial long QT syndrome | http://www.orpha.net/ORDO/Orphanet_768 | http://www.orpha.net/ORDO/Orphanet_101934 |
Romano-Ward syndrome | http://www.orpha.net/ORDO/Orphanet_101016 | http://www.orpha.net/ORDO/Orphanet_768 |
Familial atrial fibrillation | http://www.orpha.net/ORDO/Orphanet_334 | http://www.orpha.net/ORDO/Orphanet_101934 |
Catecholaminergic polymorphic ventricular tachycardia | http://www.orpha.net/ORDO/Orphanet_3286 | http://www.orpha.net/ORDO/Orphanet_101934 |
Sino-auricular heart block | http://www.orpha.net/ORDO/Orphanet_1260 | http://www.orpha.net/ORDO/Orphanet_101934 |
Torsade-de-pointes syndrome with short coupling interval | http://www.orpha.net/ORDO/Orphanet_51084 | http://www.orpha.net/ORDO/Orphanet_101934 |
Familial short QT syndrome | http://www.orpha.net/ORDO/Orphanet_51083 | http://www.orpha.net/ORDO/Orphanet_101934 |
Atrial stand still | http://www.orpha.net/ORDO/Orphanet_1344 | http://www.orpha.net/ORDO/Orphanet_101934 |
Heart-hand syndrome type 3 | http://www.orpha.net/ORDO/Orphanet_1342 | http://www.orpha.net/ORDO/Orphanet_101934 |
Heart-hand syndrome type 2 | http://www.orpha.net/ORDO/Orphanet_1350 | http://www.orpha.net/ORDO/Orphanet_101934 |
Atrial septal defect - atrioventricular conduction defects | http://www.orpha.net/ORDO/Orphanet_1479 | http://www.orpha.net/ORDO/Orphanet_101934 |
Left ventricular noncompaction | http://www.orpha.net/ORDO/Orphanet_54260 | http://www.orpha.net/ORDO/Orphanet_98054 |
Rare syndrome with cardiac malformations | http://www.orpha.net/ORDO/Orphanet_156532 | http://www.orpha.net/ORDO/Orphanet_98054 |
Cardiac anomalies - heterotaxy | http://www.orpha.net/ORDO/Orphanet_137628 | http://www.orpha.net/ORDO/Orphanet_156532 |
Microcephaly - cardiac defect - lung malsegmentation | http://www.orpha.net/ORDO/Orphanet_2516 | http://www.orpha.net/ORDO/Orphanet_156532 |
Polyvalvular heart disease syndrome | http://www.orpha.net/ORDO/Orphanet_228410 | http://www.orpha.net/ORDO/Orphanet_156532 |
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies | http://www.orpha.net/ORDO/Orphanet_228190 | http://www.orpha.net/ORDO/Orphanet_156532 |
Cardiac anomalies-developmental delay-facial dysmorphism syndrome | http://www.orpha.net/ORDO/Orphanet_369891 | http://www.orpha.net/ORDO/Orphanet_156532 |
Ellis Van Creveld syndrome | http://www.orpha.net/ORDO/Orphanet_289 | http://www.orpha.net/ORDO/Orphanet_156532 |
Brain malformation - congenital heart disease - postaxial polydactyly | http://www.orpha.net/ORDO/Orphanet_75389 | http://www.orpha.net/ORDO/Orphanet_156532 |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | http://www.orpha.net/ORDO/Orphanet_217026 | http://www.orpha.net/ORDO/Orphanet_156532 |
Congenital disorder of glycosylation with cardiac malformation as a major feature | http://www.orpha.net/ORDO/Orphanet_371183 | http://www.orpha.net/ORDO/Orphanet_156532 |
Arrhythmogenic right ventricular dysplasia | http://www.orpha.net/ORDO/Orphanet_247 | http://www.orpha.net/ORDO/Orphanet_98054 |
Familial isolated arrhythmogenic right ventricular dysplasia | http://www.orpha.net/ORDO/Orphanet_217656 | http://www.orpha.net/ORDO/Orphanet_247 |
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form | http://www.orpha.net/ORDO/Orphanet_293910 | http://www.orpha.net/ORDO/Orphanet_217656 |
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form | http://www.orpha.net/ORDO/Orphanet_293899 | http://www.orpha.net/ORDO/Orphanet_217656 |
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form | http://www.orpha.net/ORDO/Orphanet_293888 | http://www.orpha.net/ORDO/Orphanet_217656 |
Familial restrictive cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217635 | http://www.orpha.net/ORDO/Orphanet_98054 |
Desminopathy | http://www.orpha.net/ORDO/Orphanet_98909 | http://www.orpha.net/ORDO/Orphanet_217635 |
Lysosomal disease with restrictive cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217638 | http://www.orpha.net/ORDO/Orphanet_217635 |
Familial isolated restrictive cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_75249 | http://www.orpha.net/ORDO/Orphanet_217635 |
Familial dilated cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217607 | http://www.orpha.net/ORDO/Orphanet_98054 |
Familial isolated dilated cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_154 | http://www.orpha.net/ORDO/Orphanet_217607 |
Syndrome associated with dilated cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217619 | http://www.orpha.net/ORDO/Orphanet_217607 |
Microcephaly - cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_2515 | http://www.orpha.net/ORDO/Orphanet_217619 |
Sensorineural deafness with dilated cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217622 | http://www.orpha.net/ORDO/Orphanet_217619 |
Tubular renal disease - cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_73224 | http://www.orpha.net/ORDO/Orphanet_217619 |
1p36 deletion syndrome | http://www.orpha.net/ORDO/Orphanet_1606 | http://www.orpha.net/ORDO/Orphanet_217619 |
Cardiomyopathy - cataract - hip spine disease | http://www.orpha.net/ORDO/Orphanet_1345 | http://www.orpha.net/ORDO/Orphanet_217619 |
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217616 | http://www.orpha.net/ORDO/Orphanet_217607 |
Mitochondrial disease with dilated cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217613 | http://www.orpha.net/ORDO/Orphanet_217607 |
Neuromuscular disease with dilated cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217610 | http://www.orpha.net/ORDO/Orphanet_217607 |
Early-onset myopathy with fatal cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_289377 | http://www.orpha.net/ORDO/Orphanet_217610 |
Autosomal dominant limb-girdle muscular dystrophy type 1B | http://www.orpha.net/ORDO/Orphanet_264 | http://www.orpha.net/ORDO/Orphanet_217610 |
Autosomal recessive limb-girdle muscular dystrophy type 2F | http://www.orpha.net/ORDO/Orphanet_219 | http://www.orpha.net/ORDO/Orphanet_217610 |
Autosomal recessive limb-girdle muscular dystrophy type 2C | http://www.orpha.net/ORDO/Orphanet_353 | http://www.orpha.net/ORDO/Orphanet_217610 |
Autosomal recessive limb-girdle muscular dystrophy type 2E | http://www.orpha.net/ORDO/Orphanet_119 | http://www.orpha.net/ORDO/Orphanet_217610 |
Autosomal recessive limb-girdle muscular dystrophy type 2D | http://www.orpha.net/ORDO/Orphanet_62 | http://www.orpha.net/ORDO/Orphanet_217610 |
Congenital disorder of glycosylation with dilated cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_371176 | http://www.orpha.net/ORDO/Orphanet_217607 |
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation | http://www.orpha.net/ORDO/Orphanet_300751 | http://www.orpha.net/ORDO/Orphanet_217607 |
Rare familial disorder with hypertrophic cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_99739 | http://www.orpha.net/ORDO/Orphanet_98054 |
Lysosomal disease with hypertrophic cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217581 | http://www.orpha.net/ORDO/Orphanet_99739 |
Syndrome associated with hypertrophic cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217595 | http://www.orpha.net/ORDO/Orphanet_99739 |
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217591 | http://www.orpha.net/ORDO/Orphanet_99739 |
Mitochondrial disease with hypertrophic cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217587 | http://www.orpha.net/ORDO/Orphanet_99739 |
Maternally-inherited cardiomyopathy and hearing loss | http://www.orpha.net/ORDO/Orphanet_1349 | http://www.orpha.net/ORDO/Orphanet_217587 |
Glycogen storage disease with hypertrophic cardiomyopathy | http://www.orpha.net/ORDO/Orphanet_217572 | http://www.orpha.net/ORDO/Orphanet_99739 |
Familial idiopathic dilatation of the right atrium | http://www.orpha.net/ORDO/Orphanet_1677 | http://www.orpha.net/ORDO/Orphanet_98054 |
Rare genetic renal disease | http://www.orpha.net/ORDO/Orphanet_98056 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Genetic hypertension | http://www.orpha.net/ORDO/Orphanet_156629 | http://www.orpha.net/ORDO/Orphanet_98056 |
Autosomal dominant progressive nephropathy with hypertension | http://www.orpha.net/ORDO/Orphanet_88659 | http://www.orpha.net/ORDO/Orphanet_156629 |
Pseudohyperaldosteronism type 2 | http://www.orpha.net/ORDO/Orphanet_88660 | http://www.orpha.net/ORDO/Orphanet_156629 |
Pseudohypoaldosteronism type 2 | http://www.orpha.net/ORDO/Orphanet_757 | http://www.orpha.net/ORDO/Orphanet_156629 |
Pseudohypoaldosteronism type 2A | http://www.orpha.net/ORDO/Orphanet_88938 | http://www.orpha.net/ORDO/Orphanet_757 |
Pseudohypoaldosteronism type 2B | http://www.orpha.net/ORDO/Orphanet_88939 | http://www.orpha.net/ORDO/Orphanet_757 |
Pseudohypoaldosteronism type 2C | http://www.orpha.net/ORDO/Orphanet_88940 | http://www.orpha.net/ORDO/Orphanet_757 |
Pseudohypoaldosteronism type 2D | http://www.orpha.net/ORDO/Orphanet_300525 | http://www.orpha.net/ORDO/Orphanet_757 |
Pseudohypoaldosteronism type 2E | http://www.orpha.net/ORDO/Orphanet_300530 | http://www.orpha.net/ORDO/Orphanet_757 |
Brachydactyly - arterial hypertension | http://www.orpha.net/ORDO/Orphanet_1276 | http://www.orpha.net/ORDO/Orphanet_156629 |
Nephropathy secondary to a storage or other metabolic disease | http://www.orpha.net/ORDO/Orphanet_93593 | http://www.orpha.net/ORDO/Orphanet_98056 |
Congenital disorder of glycosylation with nephropathy as a major feature | http://www.orpha.net/ORDO/Orphanet_371207 | http://www.orpha.net/ORDO/Orphanet_93593 |
Familial cystic renal disease | http://www.orpha.net/ORDO/Orphanet_93587 | http://www.orpha.net/ORDO/Orphanet_98056 |
Nephronophthisis | http://www.orpha.net/ORDO/Orphanet_655 | http://www.orpha.net/ORDO/Orphanet_93587 |
Infantile nephronophthisis | http://www.orpha.net/ORDO/Orphanet_93591 | http://www.orpha.net/ORDO/Orphanet_655 |
Juvenile nephronophthisis | http://www.orpha.net/ORDO/Orphanet_93592 | http://www.orpha.net/ORDO/Orphanet_655 |
Late-onset nephronophthisis | http://www.orpha.net/ORDO/Orphanet_93589 | http://www.orpha.net/ORDO/Orphanet_655 |
Autosomal dominant polycystic kidney disease | http://www.ebi.ac.uk/efo/EFO_1001496 | http://www.orpha.net/ORDO/Orphanet_93587 |
polycystic kidney disease 2 | http://purl.obolibrary.org/obo/MONDO_0013131 | http://www.ebi.ac.uk/efo/EFO_1001496 |
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis | http://www.orpha.net/ORDO/Orphanet_88924 | http://www.ebi.ac.uk/efo/EFO_1001496 |
polycystic kidney disease 6 with or without polycystic liver disease | http://purl.obolibrary.org/obo/MONDO_0054842 | http://www.ebi.ac.uk/efo/EFO_1001496 |
polycystic kidney disease 3 with or without polycystic liver disease | http://purl.obolibrary.org/obo/MONDO_0010916 | http://www.ebi.ac.uk/efo/EFO_1001496 |
ALG9-associated autosomal dominant polycystic kidney disease | http://purl.obolibrary.org/obo/MONDO_0700000 | http://www.ebi.ac.uk/efo/EFO_1001496 |
Autosomal recessive polycystic kidney disease | http://www.orpha.net/ORDO/Orphanet_731 | http://www.orpha.net/ORDO/Orphanet_93587 |
Adult familial nephronophthisis - spastic quadriparesia | http://www.orpha.net/ORDO/Orphanet_2666 | http://www.orpha.net/ORDO/Orphanet_93587 |
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia | http://www.orpha.net/ORDO/Orphanet_34149 | http://www.orpha.net/ORDO/Orphanet_93587 |
Autosomal dominant medullary cystic kidney disease with hyperuricemia | http://www.orpha.net/ORDO/Orphanet_88950 | http://www.orpha.net/ORDO/Orphanet_34149 |
Cerebro-reno-digital syndrome | http://www.orpha.net/ORDO/Orphanet_1396 | http://www.orpha.net/ORDO/Orphanet_93587 |
Genetic renal or urinary tract malformation | http://www.orpha.net/ORDO/Orphanet_183539 | http://www.orpha.net/ORDO/Orphanet_98056 |
Syndromic renal or urinary tract malformation | http://www.orpha.net/ORDO/Orphanet_93547 | http://www.orpha.net/ORDO/Orphanet_183539 |
Hydrocephalus - blue sclerae - nephropathy | http://www.orpha.net/ORDO/Orphanet_2186 | http://www.orpha.net/ORDO/Orphanet_93547 |
Renal-hepatic-pancreatic dysplasia | http://www.orpha.net/ORDO/Orphanet_294415 | http://www.orpha.net/ORDO/Orphanet_93547 |
Ichthyosis - intellectual disability - dwarfism - renal impairment | http://www.orpha.net/ORDO/Orphanet_2278 | http://www.orpha.net/ORDO/Orphanet_93547 |
Fibulo-ulnar hypoplasia - renal anomalies | http://www.orpha.net/ORDO/Orphanet_2256 | http://www.orpha.net/ORDO/Orphanet_93547 |
VACTERL/VATER association | http://www.orpha.net/ORDO/Orphanet_887 | http://www.orpha.net/ORDO/Orphanet_93547 |
Acrorenal syndrome | http://www.orpha.net/ORDO/Orphanet_971 | http://www.orpha.net/ORDO/Orphanet_93547 |
Acroosteolysis dominant type | http://www.orpha.net/ORDO/Orphanet_955 | http://www.orpha.net/ORDO/Orphanet_93547 |
Acro-pectoro-renal dysplasia | http://www.orpha.net/ORDO/Orphanet_956 | http://www.orpha.net/ORDO/Orphanet_93547 |
Oculo-skeletal-renal syndrome | http://www.orpha.net/ORDO/Orphanet_2716 | http://www.orpha.net/ORDO/Orphanet_93547 |
Neurofaciodigitorenal syndrome | http://www.orpha.net/ORDO/Orphanet_2673 | http://www.orpha.net/ORDO/Orphanet_93547 |
Multicentric carpo-tarsal osteolysis with or without nephropathy | http://www.orpha.net/ORDO/Orphanet_2774 | http://www.orpha.net/ORDO/Orphanet_93547 |
Ivemark syndrome | http://www.orpha.net/ORDO/Orphanet_97548 | http://www.orpha.net/ORDO/Orphanet_93547 |
Thymic-renal-anal-lung dysplasia | http://www.orpha.net/ORDO/Orphanet_3326 | http://www.orpha.net/ORDO/Orphanet_93547 |
Thyrocerebrorenal syndrome | http://www.orpha.net/ORDO/Orphanet_3327 | http://www.orpha.net/ORDO/Orphanet_93547 |
Double uterus - hemivagina - renal agenesis | http://www.orpha.net/ORDO/Orphanet_3411 | http://www.orpha.net/ORDO/Orphanet_93547 |
Holoprosencephaly - radial heart renal anomalies | http://www.orpha.net/ORDO/Orphanet_3186 | http://www.orpha.net/ORDO/Orphanet_93547 |
Mayer-Rokitansky-Küster-Hauser syndrome | http://www.orpha.net/ORDO/Orphanet_3109 | http://www.orpha.net/ORDO/Orphanet_93547 |
MURCS association | http://www.orpha.net/ORDO/Orphanet_2578 | http://www.orpha.net/ORDO/Orphanet_3109 |
Renal-genital-middle ear anomalies | http://www.orpha.net/ORDO/Orphanet_1092 | http://www.orpha.net/ORDO/Orphanet_93547 |
Caudal regression sequence | http://www.orpha.net/ORDO/Orphanet_3027 | http://www.orpha.net/ORDO/Orphanet_93547 |
Dyschondrosteosis - nephritis | http://www.orpha.net/ORDO/Orphanet_1765 | http://www.orpha.net/ORDO/Orphanet_93547 |
Cataract - nephropathy - encephalopathy | http://www.orpha.net/ORDO/Orphanet_1380 | http://www.orpha.net/ORDO/Orphanet_93547 |
Cranioectodermal dysplasia | http://www.orpha.net/ORDO/Orphanet_1515 | http://www.orpha.net/ORDO/Orphanet_93547 |
Renal dysplasia - megalocystis - sirenomelia | http://www.orpha.net/ORDO/Orphanet_1850 | http://www.orpha.net/ORDO/Orphanet_93547 |
Infundibulopelvic stenosis - multicystic kidney | http://www.orpha.net/ORDO/Orphanet_1849 | http://www.orpha.net/ORDO/Orphanet_93547 |
Axial mesodermal dysplasia spectrum | http://www.orpha.net/ORDO/Orphanet_1834 | http://www.orpha.net/ORDO/Orphanet_93547 |
Faciocardiorenal syndrome | http://www.orpha.net/ORDO/Orphanet_1973 | http://www.orpha.net/ORDO/Orphanet_93547 |
Genetic non-syndromic renal or urinary tract malformation | http://www.orpha.net/ORDO/Orphanet_357506 | http://www.orpha.net/ORDO/Orphanet_183539 |
Congenital hydronephrosis | http://www.orpha.net/ORDO/Orphanet_2190 | http://www.orpha.net/ORDO/Orphanet_357506 |
Posterior urethral valve | http://www.orpha.net/ORDO/Orphanet_93110 | http://www.orpha.net/ORDO/Orphanet_357506 |
Renal dysplasia | http://www.orpha.net/ORDO/Orphanet_93108 | http://www.orpha.net/ORDO/Orphanet_357506 |
Unilateral renal dysplasia | http://www.orpha.net/ORDO/Orphanet_93172 | http://www.orpha.net/ORDO/Orphanet_93108 |
Bilateral renal dysplasia | http://www.orpha.net/ORDO/Orphanet_93173 | http://www.orpha.net/ORDO/Orphanet_93108 |
Unilateral renal agenesis | http://www.orpha.net/ORDO/Orphanet_93100 | http://www.orpha.net/ORDO/Orphanet_357506 |
Renal hypoplasia | http://www.orpha.net/ORDO/Orphanet_93101 | http://www.orpha.net/ORDO/Orphanet_357506 |
Bilateral renal hypoplasia | http://www.orpha.net/ORDO/Orphanet_97362 | http://www.orpha.net/ORDO/Orphanet_93101 |
Unilateral renal hypoplasia | http://www.orpha.net/ORDO/Orphanet_97361 | http://www.orpha.net/ORDO/Orphanet_93101 |
Prune belly syndrome | http://www.orpha.net/ORDO/Orphanet_2970 | http://www.orpha.net/ORDO/Orphanet_357506 |
Partial prune belly syndrome | http://www.orpha.net/ORDO/Orphanet_93178 | http://www.orpha.net/ORDO/Orphanet_2970 |
Congenital primary megaureter | http://www.orpha.net/ORDO/Orphanet_617 | http://www.orpha.net/ORDO/Orphanet_357506 |
Congenital primary megaureter, nonrefluxing and unobstructed form | http://www.orpha.net/ORDO/Orphanet_238654 | http://www.orpha.net/ORDO/Orphanet_617 |
Congenital primary megaureter, refluxing form | http://www.orpha.net/ORDO/Orphanet_238650 | http://www.orpha.net/ORDO/Orphanet_617 |
Congenital primary megaureter, obstructed form | http://www.orpha.net/ORDO/Orphanet_238646 | http://www.orpha.net/ORDO/Orphanet_617 |
Primary megaureter, adult-onset form | http://www.orpha.net/ORDO/Orphanet_238642 | http://www.orpha.net/ORDO/Orphanet_617 |
Urachal cyst | http://www.orpha.net/ORDO/Orphanet_488 | http://www.orpha.net/ORDO/Orphanet_357506 |
Duplication of urethra | http://www.orpha.net/ORDO/Orphanet_237 | http://www.orpha.net/ORDO/Orphanet_357506 |
Exstrophy-epispadias complex | http://www.orpha.net/ORDO/Orphanet_322 | http://www.orpha.net/ORDO/Orphanet_357506 |
Bladder exstrophy | http://www.orpha.net/ORDO/Orphanet_93930 | http://www.orpha.net/ORDO/Orphanet_322 |
Epispadias | http://www.orpha.net/ORDO/Orphanet_93928 | http://www.orpha.net/ORDO/Orphanet_322 |
Cloacal exstrophy | http://www.orpha.net/ORDO/Orphanet_93929 | http://www.orpha.net/ORDO/Orphanet_322 |
Atresia of urethra | http://www.orpha.net/ORDO/Orphanet_105 | http://www.orpha.net/ORDO/Orphanet_357506 |
Renal tubular dysgenesis of genetic origin | http://www.orpha.net/ORDO/Orphanet_97369 | http://www.orpha.net/ORDO/Orphanet_357506 |
Medullary sponge kidney | http://www.orpha.net/ORDO/Orphanet_1309 | http://www.orpha.net/ORDO/Orphanet_357506 |
Multicystic dysplastic kidney | http://www.orpha.net/ORDO/Orphanet_1851 | http://www.orpha.net/ORDO/Orphanet_357506 |
Bilateral multicystic dysplastic kidney | http://www.orpha.net/ORDO/Orphanet_97364 | http://www.orpha.net/ORDO/Orphanet_1851 |
Unilateral multicystic dysplastic kidney | http://www.orpha.net/ORDO/Orphanet_97363 | http://www.orpha.net/ORDO/Orphanet_1851 |
Bilateral renal agenesis | http://www.orpha.net/ORDO/Orphanet_1848 | http://www.orpha.net/ORDO/Orphanet_357506 |
Genetic renal tubular disease | http://www.orpha.net/ORDO/Orphanet_183592 | http://www.orpha.net/ORDO/Orphanet_98056 |
Idiopathic hypercalciuria | http://www.orpha.net/ORDO/Orphanet_2197 | http://www.orpha.net/ORDO/Orphanet_183592 |
Hereditary renal hypouricemia | http://www.orpha.net/ORDO/Orphanet_94088 | http://www.orpha.net/ORDO/Orphanet_183592 |
Primary renal tubular acidosis | http://www.orpha.net/ORDO/Orphanet_314822 | http://www.orpha.net/ORDO/Orphanet_183592 |
Proximal renal tubular acidosis | http://www.orpha.net/ORDO/Orphanet_47159 | http://www.orpha.net/ORDO/Orphanet_314822 |
Autosomal dominant proximal renal tubular acidosis | http://www.orpha.net/ORDO/Orphanet_314889 | http://www.orpha.net/ORDO/Orphanet_47159 |
Autosomal recessive proximal renal tubular acidosis | http://www.orpha.net/ORDO/Orphanet_93607 | http://www.orpha.net/ORDO/Orphanet_47159 |
Osteopetrosis with renal tubular acidosis | http://www.orpha.net/ORDO/Orphanet_2785 | http://www.orpha.net/ORDO/Orphanet_314822 |
Distal renal tubular acidosis | http://www.orpha.net/ORDO/Orphanet_18 | http://www.orpha.net/ORDO/Orphanet_314822 |
Autosomal dominant distal renal tubular acidosis | http://www.orpha.net/ORDO/Orphanet_93608 | http://www.orpha.net/ORDO/Orphanet_18 |
Pseudohypoaldosteronism type 1 | http://www.orpha.net/ORDO/Orphanet_756 | http://www.orpha.net/ORDO/Orphanet_183592 |
Generalized pseudohypoaldosteronism type 1 | http://www.orpha.net/ORDO/Orphanet_171876 | http://www.orpha.net/ORDO/Orphanet_756 |
Renal pseudohypoaldosteronism type 1 | http://www.orpha.net/ORDO/Orphanet_171871 | http://www.orpha.net/ORDO/Orphanet_756 |
Nephrogenic diabetes insipidus | http://www.orpha.net/ORDO/Orphanet_223 | http://www.orpha.net/ORDO/Orphanet_183592 |
Nephrogenic syndrome of inappropriate antidiuresis | http://www.orpha.net/ORDO/Orphanet_93606 | http://www.orpha.net/ORDO/Orphanet_183592 |
Dominant hypophosphatemia with nephrolithiasis or osteoporosis | http://www.orpha.net/ORDO/Orphanet_244305 | http://www.orpha.net/ORDO/Orphanet_183592 |
Primary Fanconi syndrome | http://www.orpha.net/ORDO/Orphanet_3337 | http://www.orpha.net/ORDO/Orphanet_183592 |
Nephrogenic diabetes insipidus - intracranial calcification | http://www.orpha.net/ORDO/Orphanet_3145 | http://www.orpha.net/ORDO/Orphanet_183592 |
Hyperuricemia - anemia - renal failure | http://www.orpha.net/ORDO/Orphanet_217330 | http://www.orpha.net/ORDO/Orphanet_183592 |
Genetic thrombotic microangiopathy | http://www.orpha.net/ORDO/Orphanet_183589 | http://www.orpha.net/ORDO/Orphanet_98056 |
Genetic glomerular disease | http://www.orpha.net/ORDO/Orphanet_183586 | http://www.orpha.net/ORDO/Orphanet_98056 |
Basement membrane disease | http://www.orpha.net/ORDO/Orphanet_93550 | http://www.orpha.net/ORDO/Orphanet_183586 |
X-linked diffuse leiomyomatosis - Alport syndrome | http://www.orpha.net/ORDO/Orphanet_1018 | http://www.orpha.net/ORDO/Orphanet_93550 |
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures | http://www.orpha.net/ORDO/Orphanet_73229 | http://www.orpha.net/ORDO/Orphanet_93550 |
Familial renal amyloidosis | http://www.orpha.net/ORDO/Orphanet_85450 | http://www.orpha.net/ORDO/Orphanet_183586 |
Familial renal amyloidosis due to Apolipoprotein AI variant | http://www.orpha.net/ORDO/Orphanet_93560 | http://www.orpha.net/ORDO/Orphanet_85450 |
Familial renal amyloidosis due to lysozyme variant | http://www.orpha.net/ORDO/Orphanet_93561 | http://www.orpha.net/ORDO/Orphanet_85450 |
Familial renal amyloidosis due to fibrinogen A alpha-chain variant | http://www.orpha.net/ORDO/Orphanet_93562 | http://www.orpha.net/ORDO/Orphanet_85450 |
Primary glomerular disease | http://www.orpha.net/ORDO/Orphanet_102373 | http://www.orpha.net/ORDO/Orphanet_183586 |
Sporadic idiopathic steroid-resistant nephrotic syndrome | http://www.orpha.net/ORDO/Orphanet_84271 | http://www.orpha.net/ORDO/Orphanet_102373 |
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis | http://www.orpha.net/ORDO/Orphanet_93220 | http://www.orpha.net/ORDO/Orphanet_84271 |
Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes | http://www.orpha.net/ORDO/Orphanet_93221 | http://www.orpha.net/ORDO/Orphanet_84271 |
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation | http://www.orpha.net/ORDO/Orphanet_93222 | http://www.orpha.net/ORDO/Orphanet_84271 |
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis | http://www.orpha.net/ORDO/Orphanet_93218 | http://www.orpha.net/ORDO/Orphanet_84271 |
Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy | http://www.orpha.net/ORDO/Orphanet_97555 | http://www.orpha.net/ORDO/Orphanet_84271 |
Glomerulonephritis - sparse hair - telangiectasis | http://www.orpha.net/ORDO/Orphanet_2087 | http://www.orpha.net/ORDO/Orphanet_102373 |
Fibronectin glomerulopathy | http://www.orpha.net/ORDO/Orphanet_84090 | http://www.orpha.net/ORDO/Orphanet_102373 |
Nail-patella-like renal disease | http://www.orpha.net/ORDO/Orphanet_2613 | http://www.orpha.net/ORDO/Orphanet_102373 |
Rapidly progressive glomerulonephritis | http://www.orpha.net/ORDO/Orphanet_280569 | http://www.orpha.net/ORDO/Orphanet_102373 |
Primary membranoproliferative glomerulonephritis | http://www.orpha.net/ORDO/Orphanet_54370 | http://www.orpha.net/ORDO/Orphanet_102373 |
Immunoglobulin-mediated membranoproliferative glomerulonephritis | http://www.orpha.net/ORDO/Orphanet_329903 | http://www.orpha.net/ORDO/Orphanet_54370 |
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis | http://www.orpha.net/ORDO/Orphanet_329918 | http://www.orpha.net/ORDO/Orphanet_54370 |
Dense deposit disease | http://www.orpha.net/ORDO/Orphanet_93571 | http://www.orpha.net/ORDO/Orphanet_329918 |
Familial idiopathic steroid-resistant nephrotic syndrome | http://www.orpha.net/ORDO/Orphanet_656 | http://www.orpha.net/ORDO/Orphanet_102373 |
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation | http://www.orpha.net/ORDO/Orphanet_93214 | http://www.orpha.net/ORDO/Orphanet_656 |
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes | http://www.orpha.net/ORDO/Orphanet_93216 | http://www.orpha.net/ORDO/Orphanet_656 |
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis | http://www.orpha.net/ORDO/Orphanet_93217 | http://www.orpha.net/ORDO/Orphanet_656 |
Congenital and infantile nephrotic syndrome | http://www.orpha.net/ORDO/Orphanet_97556 | http://www.orpha.net/ORDO/Orphanet_102373 |
Congenital nephrotic syndrome, Finnish type | http://www.orpha.net/ORDO/Orphanet_839 | http://www.orpha.net/ORDO/Orphanet_97556 |
Action myoclonus - renal failure syndrome | http://www.orpha.net/ORDO/Orphanet_163696 | http://www.orpha.net/ORDO/Orphanet_102373 |
serpinopathy | http://purl.obolibrary.org/obo/MONDO_0027749 | http://www.ebi.ac.uk/efo/EFO_0000508 |
hereditary angioedema with C1Inh deficiency | http://purl.obolibrary.org/obo/MONDO_0033946 | http://purl.obolibrary.org/obo/MONDO_0027749 |
hereditary angioedema type 1 | http://purl.obolibrary.org/obo/MONDO_0015053 | http://purl.obolibrary.org/obo/MONDO_0033946 |
hereditary angioedema type 2 | http://purl.obolibrary.org/obo/MONDO_0015054 | http://purl.obolibrary.org/obo/MONDO_0033946 |
lumbar disc degeneration | http://www.ebi.ac.uk/efo/EFO_0004994 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Reynolds syndrome | http://purl.obolibrary.org/obo/MONDO_0013276 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Birbeck granule deficiency | http://purl.obolibrary.org/obo/MONDO_0013251 | http://www.ebi.ac.uk/efo/EFO_0000508 |
isolated congenital breast hypoplasia/aplasia | http://purl.obolibrary.org/obo/MONDO_0015855 | http://www.ebi.ac.uk/efo/EFO_0000508 |
breasts and/or nipples, aplasia or hypoplasia of, 2 | http://purl.obolibrary.org/obo/MONDO_0014450 | http://purl.obolibrary.org/obo/MONDO_0015855 |
inherited renal tubular disease | http://purl.obolibrary.org/obo/MONDO_0015962 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Dent disease | http://purl.obolibrary.org/obo/MONDO_0015612 | http://purl.obolibrary.org/obo/MONDO_0015962 |
Dent disease type 1 | http://purl.obolibrary.org/obo/MONDO_0010225 | http://purl.obolibrary.org/obo/MONDO_0015612 |
Dent disease type 2 | http://purl.obolibrary.org/obo/MONDO_0010359 | http://purl.obolibrary.org/obo/MONDO_0015612 |
familial juvenile hyperuricemic nephropathy type 2 | http://purl.obolibrary.org/obo/MONDO_0013128 | http://purl.obolibrary.org/obo/MONDO_0015962 |
primary renal tubular acidosis | http://purl.obolibrary.org/obo/MONDO_0017828 | http://purl.obolibrary.org/obo/MONDO_0015962 |
distal renal tubular acidosis | http://purl.obolibrary.org/obo/MONDO_0015827 | http://purl.obolibrary.org/obo/MONDO_0017828 |
autosomal dominant distal renal tubular acidosis | http://purl.obolibrary.org/obo/MONDO_0008368 | http://purl.obolibrary.org/obo/MONDO_0015827 |
pseudohypoaldosteronism type 1 | http://purl.obolibrary.org/obo/MONDO_0019161 | http://purl.obolibrary.org/obo/MONDO_0015962 |
autosomal dominant pseudohypoaldosteronism type 1 | http://purl.obolibrary.org/obo/MONDO_0008329 | http://purl.obolibrary.org/obo/MONDO_0019161 |
autosomal recessive pseudohypoaldosteronism type 1 | http://purl.obolibrary.org/obo/MONDO_0009917 | http://purl.obolibrary.org/obo/MONDO_0019161 |
Senior-Boichis syndrome | http://purl.obolibrary.org/obo/MONDO_0019394 | http://purl.obolibrary.org/obo/MONDO_0015962 |
nephronophthisis 11 | http://purl.obolibrary.org/obo/MONDO_0013302 | http://purl.obolibrary.org/obo/MONDO_0019394 |
hereditary renal hypouricemia | http://purl.obolibrary.org/obo/MONDO_0009071 | http://purl.obolibrary.org/obo/MONDO_0015962 |
nephrogenic syndrome of inappropriate antidiuresis | http://purl.obolibrary.org/obo/MONDO_0010356 | http://purl.obolibrary.org/obo/MONDO_0015962 |
nephronophthisis | http://purl.obolibrary.org/obo/MONDO_0019005 | http://purl.obolibrary.org/obo/MONDO_0015962 |
nephronophthisis 2 | http://purl.obolibrary.org/obo/MONDO_0011190 | http://purl.obolibrary.org/obo/MONDO_0019005 |
late-onset nephronophthisis | http://purl.obolibrary.org/obo/MONDO_0019742 | http://purl.obolibrary.org/obo/MONDO_0019005 |
nephronophthisis 16 | http://purl.obolibrary.org/obo/MONDO_0014158 | http://purl.obolibrary.org/obo/MONDO_0019005 |
nephrogenic diabetes insipidus | http://purl.obolibrary.org/obo/MONDO_0016383 | http://purl.obolibrary.org/obo/MONDO_0015962 |
diabetes insipidus, nephrogenic, autosomal | http://purl.obolibrary.org/obo/MONDO_0007451 | http://purl.obolibrary.org/obo/MONDO_0016383 |
idiopathic inherited hypercalciuria | http://purl.obolibrary.org/obo/MONDO_0016352 | http://purl.obolibrary.org/obo/MONDO_0015962 |
dominant hypophosphatemia with nephrolithiasis or osteoporosis | http://purl.obolibrary.org/obo/MONDO_0016579 | http://purl.obolibrary.org/obo/MONDO_0015962 |
Okt4 epitope deficiency | http://purl.obolibrary.org/obo/MONDO_0013497 | http://www.ebi.ac.uk/efo/EFO_0000508 |
obesity, hyperphagia, and developmental delay | http://purl.obolibrary.org/obo/MONDO_0013483 | http://www.ebi.ac.uk/efo/EFO_0000508 |
inosine triphosphatase deficiency | http://purl.obolibrary.org/obo/MONDO_0013461 | http://www.ebi.ac.uk/efo/EFO_0000508 |
fucosyltransferase 6 deficiency | http://purl.obolibrary.org/obo/MONDO_0013462 | http://www.ebi.ac.uk/efo/EFO_0000508 |
myostatin-related muscle hypertrophy | http://purl.obolibrary.org/obo/MONDO_0013598 | http://www.ebi.ac.uk/efo/EFO_0000508 |
chondrodysplasia with joint dislocations, gPAPP type | http://purl.obolibrary.org/obo/MONDO_0013561 | http://www.ebi.ac.uk/efo/EFO_0000508 |
anhaptoglobinemia | http://purl.obolibrary.org/obo/MONDO_0013564 | http://www.ebi.ac.uk/efo/EFO_0000508 |
N-acetylaspartate deficiency | http://purl.obolibrary.org/obo/MONDO_0013549 | http://www.ebi.ac.uk/efo/EFO_0000508 |
acetyl-CoA acetyltransferase-2 deficiency | http://purl.obolibrary.org/obo/MONDO_0013548 | http://www.ebi.ac.uk/efo/EFO_0000508 |
trypsinogen deficiency | http://purl.obolibrary.org/obo/MONDO_0013543 | http://www.ebi.ac.uk/efo/EFO_0000508 |
protein Z deficiency | http://purl.obolibrary.org/obo/MONDO_0013532 | http://www.ebi.ac.uk/efo/EFO_0000508 |
cyanosis, transient neonatal | http://purl.obolibrary.org/obo/MONDO_0013511 | http://www.ebi.ac.uk/efo/EFO_0000508 |
short stature, Brussels type | http://purl.obolibrary.org/obo/MONDO_0011046 | http://www.ebi.ac.uk/efo/EFO_0000508 |
osteoporosis-oculocutaneous hypopigmentation syndrome | http://purl.obolibrary.org/obo/MONDO_0011020 | http://www.ebi.ac.uk/efo/EFO_0000508 |
cognitive impairment with or without cerebellar ataxia | http://purl.obolibrary.org/obo/MONDO_0013680 | http://www.ebi.ac.uk/efo/EFO_0000508 |
brachyolmia-amelogenesis imperfecta syndrome | http://purl.obolibrary.org/obo/MONDO_0011018 | http://www.ebi.ac.uk/efo/EFO_0000508 |
arthrogryposis, Perthes disease, and upward gaze palsy | http://purl.obolibrary.org/obo/MONDO_0013660 | http://www.ebi.ac.uk/efo/EFO_0000508 |
cryptorchidism | http://www.ebi.ac.uk/efo/EFO_0004562 | http://www.ebi.ac.uk/efo/EFO_0000508 |
craniofacial anomalies and anterior segment dysgenesis syndrome | http://purl.obolibrary.org/obo/MONDO_0013618 | http://www.ebi.ac.uk/efo/EFO_0000508 |
pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | http://purl.obolibrary.org/obo/MONDO_0032931 | http://www.ebi.ac.uk/efo/EFO_0000508 |
genitourinary and/or brain malformation syndrome | http://purl.obolibrary.org/obo/MONDO_0032934 | http://www.ebi.ac.uk/efo/EFO_0000508 |
myopathy, congenital, with respiratory insufficiency and bone fractures | http://purl.obolibrary.org/obo/MONDO_0032936 | http://www.ebi.ac.uk/efo/EFO_0000508 |
rhizomelic limb shortening with dysmorphic features | http://purl.obolibrary.org/obo/MONDO_0032935 | http://www.ebi.ac.uk/efo/EFO_0000508 |
myopathy, congenital proximal, with minicore lesions | http://purl.obolibrary.org/obo/MONDO_0032937 | http://www.ebi.ac.uk/efo/EFO_0000508 |
microspherophakia-metaphyseal dysplasia syndrome | http://purl.obolibrary.org/obo/MONDO_0007998 | http://www.ebi.ac.uk/efo/EFO_0000508 |
congenital heart defects, multiple types, 7 | http://purl.obolibrary.org/obo/MONDO_0032913 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Imagawa-Matsumoto syndrome | http://purl.obolibrary.org/obo/MONDO_0032916 | http://www.ebi.ac.uk/efo/EFO_0000508 |
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant | http://purl.obolibrary.org/obo/MONDO_0032928 | http://www.ebi.ac.uk/efo/EFO_0000508 |
juvenile arthritis due to defect in LACC1 | http://purl.obolibrary.org/obo/MONDO_0032920 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Beck-Fahrner syndrome | http://purl.obolibrary.org/obo/MONDO_0032922 | http://www.ebi.ac.uk/efo/EFO_0000508 |
respiratory papillomatosis, juvenile recurrent, congenital | http://purl.obolibrary.org/obo/MONDO_0032925 | http://www.ebi.ac.uk/efo/EFO_0000508 |
metachondromatosis | http://purl.obolibrary.org/obo/MONDO_0007979 | http://www.ebi.ac.uk/efo/EFO_0000508 |
triokinase and FMN cyclase deficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0032927 | http://www.ebi.ac.uk/efo/EFO_0000508 |
sandestig-stefanova syndrome | http://purl.obolibrary.org/obo/MONDO_0032926 | http://www.ebi.ac.uk/efo/EFO_0000508 |
intellectual developmental disorder with poor growth and with or without seizures or ataxia | http://purl.obolibrary.org/obo/MONDO_0032930 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Megalodactyly | http://purl.obolibrary.org/obo/MONDO_0007962 | http://www.ebi.ac.uk/efo/EFO_0000508 |
CEBALID syndrome | http://purl.obolibrary.org/obo/MONDO_0032908 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Catifa syndrome | http://purl.obolibrary.org/obo/MONDO_0032901 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Hereditary angioedema | http://www.orpha.net/ORDO/Orphanet_91378 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Hereditary angioedema type 1 | http://www.orpha.net/ORDO/Orphanet_100050 | http://www.orpha.net/ORDO/Orphanet_91378 |
Hereditary angioedema type 2 | http://www.orpha.net/ORDO/Orphanet_100051 | http://www.orpha.net/ORDO/Orphanet_91378 |
Hereditary angioedema type 3 | http://www.orpha.net/ORDO/Orphanet_100054 | http://www.orpha.net/ORDO/Orphanet_91378 |
hypotrichosis | http://purl.obolibrary.org/obo/MONDO_0003037 | http://www.ebi.ac.uk/efo/EFO_0000508 |
hypotrichosis 5 | http://purl.obolibrary.org/obo/MONDO_0013017 | http://purl.obolibrary.org/obo/MONDO_0003037 |
hypotrichosis 4 | http://purl.obolibrary.org/obo/MONDO_0007806 | http://purl.obolibrary.org/obo/MONDO_0003037 |
coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness | http://purl.obolibrary.org/obo/MONDO_0015014 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Rare genetic urogenital disease | http://www.orpha.net/ORDO/Orphanet_156619 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Genetic urogenital tract malformation | http://www.orpha.net/ORDO/Orphanet_156622 | http://www.orpha.net/ORDO/Orphanet_156619 |
Familial vesicoureteral reflux | http://www.orpha.net/ORDO/Orphanet_289365 | http://www.orpha.net/ORDO/Orphanet_156622 |
Müllerian aplasia | http://www.orpha.net/ORDO/Orphanet_73217 | http://www.orpha.net/ORDO/Orphanet_156622 |
Partial bilateral aplasia of the Müllerian ducts | http://www.orpha.net/ORDO/Orphanet_180068 | http://www.orpha.net/ORDO/Orphanet_73217 |
Unilateral aplasia of the Müllerian ducts | http://www.orpha.net/ORDO/Orphanet_180071 | http://www.orpha.net/ORDO/Orphanet_73217 |
True unicornuate uterus | http://www.orpha.net/ORDO/Orphanet_180074 | http://www.orpha.net/ORDO/Orphanet_180071 |
Pseudounicornuate uterus | http://www.orpha.net/ORDO/Orphanet_180079 | http://www.orpha.net/ORDO/Orphanet_180071 |
Congenital bilateral absence of vas deferens | http://www.orpha.net/ORDO/Orphanet_48 | http://www.orpha.net/ORDO/Orphanet_156622 |
Syndromic urogenital tract malformation | http://www.orpha.net/ORDO/Orphanet_165707 | http://www.orpha.net/ORDO/Orphanet_156622 |
Spondylocostal dysostosis - anal and genitourinary malformations | http://www.orpha.net/ORDO/Orphanet_94095 | http://www.orpha.net/ORDO/Orphanet_165707 |
Split hand - urinary anomalies - spina bifida | http://www.orpha.net/ORDO/Orphanet_2437 | http://www.orpha.net/ORDO/Orphanet_165707 |
Müllerian duct anomalies - limb anomalies | http://www.orpha.net/ORDO/Orphanet_2491 | http://www.orpha.net/ORDO/Orphanet_165707 |
Lower limb deficiency - hypospadias | http://www.orpha.net/ORDO/Orphanet_2487 | http://www.orpha.net/ORDO/Orphanet_165707 |
Myopathy - growth delay - intellectual disability - hypospadias | http://www.orpha.net/ORDO/Orphanet_2601 | http://www.orpha.net/ORDO/Orphanet_165707 |
Hypertelorism - hypospadias - polysyndactyly syndrome | http://www.orpha.net/ORDO/Orphanet_2211 | http://www.orpha.net/ORDO/Orphanet_165707 |
Hypospadias - intellectual disability, Goldblatt type | http://www.orpha.net/ORDO/Orphanet_2261 | http://www.orpha.net/ORDO/Orphanet_165707 |
Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema | http://www.orpha.net/ORDO/Orphanet_2252 | http://www.orpha.net/ORDO/Orphanet_165707 |
Torticollis - keloids - cryptorchidism - renal dysplasia | http://www.orpha.net/ORDO/Orphanet_3341 | http://www.orpha.net/ORDO/Orphanet_165707 |
Spina bifida - hypospadias | http://www.orpha.net/ORDO/Orphanet_3176 | http://www.orpha.net/ORDO/Orphanet_165707 |
Branchio-skeleto-genital syndrome | http://www.orpha.net/ORDO/Orphanet_1299 | http://www.orpha.net/ORDO/Orphanet_165707 |
Autosomal recessive facio-digito-genital syndrome | http://www.orpha.net/ORDO/Orphanet_1974 | http://www.orpha.net/ORDO/Orphanet_165707 |
genetic cardiac rhythm disease | http://purl.obolibrary.org/obo/MONDO_0015110 | http://www.ebi.ac.uk/efo/EFO_0000508 |
ventricular fibrillation, paroxysmal familial, type 1 | http://purl.obolibrary.org/obo/MONDO_0011376 | http://purl.obolibrary.org/obo/MONDO_0015110 |
torsade-de-pointes syndrome with short coupling interval | http://purl.obolibrary.org/obo/MONDO_0013317 | http://purl.obolibrary.org/obo/MONDO_0015110 |
atrial standstill | http://purl.obolibrary.org/obo/MONDO_0015281 | http://purl.obolibrary.org/obo/MONDO_0015110 |
sino-auricular heart block | http://purl.obolibrary.org/obo/MONDO_0015257 | http://purl.obolibrary.org/obo/MONDO_0015110 |
His bundle tachycardia | http://purl.obolibrary.org/obo/MONDO_0017989 | http://purl.obolibrary.org/obo/MONDO_0015110 |
progressive familial heart block | http://purl.obolibrary.org/obo/MONDO_0019490 | http://purl.obolibrary.org/obo/MONDO_0015110 |
third-degree atrioventricular block | http://purl.obolibrary.org/obo/MONDO_0000468 | http://purl.obolibrary.org/obo/MONDO_0015110 |
atrial conduction disease | http://www.ebi.ac.uk/efo/EFO_0005304 | http://purl.obolibrary.org/obo/MONDO_0015110 |
gnb5-related intellectual disability-cardiac arrhythmia syndrome | http://purl.obolibrary.org/obo/MONDO_0014953 | http://purl.obolibrary.org/obo/MONDO_0015110 |
familial atrial fibrillation | http://purl.obolibrary.org/obo/MONDO_0018054 | http://purl.obolibrary.org/obo/MONDO_0015110 |
ventricular tachycardia, familial | http://purl.obolibrary.org/obo/MONDO_0008648 | http://purl.obolibrary.org/obo/MONDO_0015110 |
catecholaminergic polymorphic ventricular tachycardia | http://purl.obolibrary.org/obo/MONDO_0017990 | http://purl.obolibrary.org/obo/MONDO_0008648 |
catecholaminergic polymorphic ventricular tachycardia 1 | http://purl.obolibrary.org/obo/MONDO_0011484 | http://purl.obolibrary.org/obo/MONDO_0017990 |
sclerosteosis | http://purl.obolibrary.org/obo/MONDO_0017838 | http://www.ebi.ac.uk/efo/EFO_0000508 |
familial osteosclerosis | http://purl.obolibrary.org/obo/MONDO_0042973 | http://www.ebi.ac.uk/efo/EFO_0000508 |
craniometaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0015465 | http://purl.obolibrary.org/obo/MONDO_0042973 |
osteopetrosis | http://purl.obolibrary.org/obo/MONDO_0017198 | http://purl.obolibrary.org/obo/MONDO_0042973 |
osteomesopyknosis | http://purl.obolibrary.org/obo/MONDO_0008155 | http://purl.obolibrary.org/obo/MONDO_0017198 |
melorheostosis | http://purl.obolibrary.org/obo/MONDO_0007970 | http://purl.obolibrary.org/obo/MONDO_0017198 |
infantile osteopetrosis with neuroaxonal dysplasia | http://purl.obolibrary.org/obo/MONDO_0010866 | http://purl.obolibrary.org/obo/MONDO_0017198 |
autosomal dominant osteopetrosis | http://purl.obolibrary.org/obo/MONDO_0020645 | http://purl.obolibrary.org/obo/MONDO_0017198 |
autosomal dominant osteopetrosis 1 | http://purl.obolibrary.org/obo/MONDO_0011877 | http://purl.obolibrary.org/obo/MONDO_0020645 |
autosomal dominant osteopetrosis 2 | http://purl.obolibrary.org/obo/MONDO_0008156 | http://purl.obolibrary.org/obo/MONDO_0020645 |
dysosteosclerosis | http://purl.obolibrary.org/obo/MONDO_0009138 | http://purl.obolibrary.org/obo/MONDO_0017198 |
osteopathia striata with cranial sclerosis | http://purl.obolibrary.org/obo/MONDO_0010310 | http://purl.obolibrary.org/obo/MONDO_0017198 |
osteosclerotic metaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0014080 | http://purl.obolibrary.org/obo/MONDO_0017198 |
inherited mitral valve disease | http://purl.obolibrary.org/obo/MONDO_0042966 | http://www.ebi.ac.uk/efo/EFO_0000508 |
ciliopathy | http://www.ebi.ac.uk/efo/EFO_0003900 | http://www.ebi.ac.uk/efo/EFO_0000508 |
nephropathy-associated ciliopathy | http://purl.obolibrary.org/obo/MONDO_0022409 | http://www.ebi.ac.uk/efo/EFO_0003900 |
hereditary neoplastic syndrome | http://purl.obolibrary.org/obo/MONDO_0015356 | http://www.ebi.ac.uk/efo/EFO_0000508 |
familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | http://purl.obolibrary.org/obo/MONDO_0013806 | http://purl.obolibrary.org/obo/MONDO_0015356 |
melanoma, cutaneous malignant, susceptibility to, 8 | http://purl.obolibrary.org/obo/MONDO_0013759 | http://purl.obolibrary.org/obo/MONDO_0015356 |
BAP1-related tumor predisposition syndrome | http://purl.obolibrary.org/obo/MONDO_0013692 | http://purl.obolibrary.org/obo/MONDO_0015356 |
inherited renal cancer-predisposing syndrome | http://purl.obolibrary.org/obo/MONDO_0017891 | http://purl.obolibrary.org/obo/MONDO_0015356 |
multiple self-healing squamous epithelioma | http://purl.obolibrary.org/obo/MONDO_0007566 | http://purl.obolibrary.org/obo/MONDO_0015356 |
DDX41-related hematologic malignancy predisposition syndrome | http://purl.obolibrary.org/obo/MONDO_0014809 | http://purl.obolibrary.org/obo/MONDO_0015356 |
inherited digestive cancer-predisposing syndrome | http://purl.obolibrary.org/obo/MONDO_0018538 | http://purl.obolibrary.org/obo/MONDO_0015356 |
intestinal polyposis syndrome | http://purl.obolibrary.org/obo/MONDO_0015185 | http://purl.obolibrary.org/obo/MONDO_0018538 |
intellectual developmental disorder with paroxysmal dyskinesia or seizures | http://purl.obolibrary.org/obo/MONDO_0030900 | http://www.ebi.ac.uk/efo/EFO_0000508 |
myopathy with abnormal lipid metabolism | http://purl.obolibrary.org/obo/MONDO_0009703 | http://www.ebi.ac.uk/efo/EFO_0000508 |
adenosine triphosphatase deficiency, anemia due to | http://purl.obolibrary.org/obo/MONDO_0007066 | http://www.ebi.ac.uk/efo/EFO_0000508 |
foveal hypoplasia | http://purl.obolibrary.org/obo/MONDO_0044203 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Wolff-Parkinson-White Syndrome | http://www.ebi.ac.uk/efo/EFO_1001450 | http://www.ebi.ac.uk/efo/EFO_0000508 |
angiokeratoma corporis diffusum with arteriovenous fistulas | http://purl.obolibrary.org/obo/MONDO_0010885 | http://www.ebi.ac.uk/efo/EFO_0000508 |
pellagra-like syndrome | http://purl.obolibrary.org/obo/MONDO_0009844 | http://www.ebi.ac.uk/efo/EFO_0000508 |
pancreatic beta cell agenesis with neonatal diabetes mellitus | http://purl.obolibrary.org/obo/MONDO_0010813 | http://www.ebi.ac.uk/efo/EFO_0000508 |
congenital osteogenesis imperfecta-microcephaly-cataracts syndrome | http://purl.obolibrary.org/obo/MONDO_0009803 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Rare genetic neurological disorder | http://www.orpha.net/ORDO/Orphanet_71859 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Familial acute necrotizing encephalopathy | http://www.orpha.net/ORDO/Orphanet_88619 | http://www.orpha.net/ORDO/Orphanet_71859 |
Genetic peripheral neuropathy | http://www.orpha.net/ORDO/Orphanet_98497 | http://www.orpha.net/ORDO/Orphanet_71859 |
Sodium channelopathy-related small fiber neuropathy | http://www.orpha.net/ORDO/Orphanet_306577 | http://www.orpha.net/ORDO/Orphanet_98497 |
Giant axonal neuropathy | http://www.orpha.net/ORDO/Orphanet_643 | http://www.orpha.net/ORDO/Orphanet_98497 |
Hereditary sensory and autonomic neuropathy | http://www.orpha.net/ORDO/Orphanet_140471 | http://www.orpha.net/ORDO/Orphanet_98497 |
Autosomal dominant hereditary sensory and autonomic neuropathy | http://www.orpha.net/ORDO/Orphanet_140474 | http://www.orpha.net/ORDO/Orphanet_140471 |
Hereditary sensory and autonomic neuropathy type 1B | http://www.orpha.net/ORDO/Orphanet_139564 | http://www.orpha.net/ORDO/Orphanet_140474 |
Hereditary sensory and autonomic neuropathy type 7 | http://www.orpha.net/ORDO/Orphanet_391397 | http://www.orpha.net/ORDO/Orphanet_140474 |
Primary erythermalgia | http://www.orpha.net/ORDO/Orphanet_90026 | http://www.orpha.net/ORDO/Orphanet_140474 |
Chronic diarrhea with hereditary sensory and autonomic neuropathy | http://www.orpha.net/ORDO/Orphanet_397606 | http://www.orpha.net/ORDO/Orphanet_140474 |
Erythromelalgia | http://www.orpha.net/ORDO/Orphanet_1956 | http://www.orpha.net/ORDO/Orphanet_140474 |
Autosomal recessive hereditary sensory and autonomic neuropathy | http://www.orpha.net/ORDO/Orphanet_140477 | http://www.orpha.net/ORDO/Orphanet_140471 |
Channelopathy-associated congenital insensitivity to pain | http://www.orpha.net/ORDO/Orphanet_88642 | http://www.orpha.net/ORDO/Orphanet_140477 |
Hereditary sensory and autonomic neuropathy type 5 | http://www.orpha.net/ORDO/Orphanet_64752 | http://www.orpha.net/ORDO/Orphanet_140477 |
Hereditary sensory and autonomic neuropathy type 6 | http://www.orpha.net/ORDO/Orphanet_314381 | http://www.orpha.net/ORDO/Orphanet_140477 |
Hereditary sensory and autonomic neuropathy type 2 | http://www.orpha.net/ORDO/Orphanet_970 | http://www.orpha.net/ORDO/Orphanet_140477 |
Hereditary sensory and autonomic neuropathy type 4 | http://www.orpha.net/ORDO/Orphanet_642 | http://www.orpha.net/ORDO/Orphanet_140477 |
Hereditary sensory and autonomic neuropathy with deafness and global delay | http://www.orpha.net/ORDO/Orphanet_139573 | http://www.orpha.net/ORDO/Orphanet_140477 |
X-linked hereditary sensory and autonomic neuropathy with deafness | http://www.orpha.net/ORDO/Orphanet_139583 | http://www.orpha.net/ORDO/Orphanet_140471 |
Congenital insensitivity to pain with hyperhidrosis | http://www.orpha.net/ORDO/Orphanet_217399 | http://www.orpha.net/ORDO/Orphanet_140471 |
Cold-induced sweating syndrome-hyperthermia spectrum | http://www.orpha.net/ORDO/Orphanet_401993 | http://www.orpha.net/ORDO/Orphanet_140471 |
Cold-induced sweating syndrome | http://www.orpha.net/ORDO/Orphanet_157820 | http://www.orpha.net/ORDO/Orphanet_401993 |
Crisponi syndrome | http://www.orpha.net/ORDO/Orphanet_1545 | http://www.orpha.net/ORDO/Orphanet_401993 |
Infantile axonal neuropathy | http://www.orpha.net/ORDO/Orphanet_2679 | http://www.orpha.net/ORDO/Orphanet_98497 |
Rare hereditary disease with peripheral neuropathy | http://www.orpha.net/ORDO/Orphanet_207015 | http://www.orpha.net/ORDO/Orphanet_98497 |
Rare hereditary neurologic disease with peripheral neuropathy | http://www.orpha.net/ORDO/Orphanet_207025 | http://www.orpha.net/ORDO/Orphanet_207015 |
Cerebellar ataxia with peripheral neuropathy | http://www.orpha.net/ORDO/Orphanet_207028 | http://www.orpha.net/ORDO/Orphanet_207025 |
Rare disease with corpus callosum agenesis associated with peripheral neuropathy | http://www.orpha.net/ORDO/Orphanet_207031 | http://www.orpha.net/ORDO/Orphanet_207025 |
Rare hereditary metabolic disease with peripheral neuropathy | http://www.orpha.net/ORDO/Orphanet_207018 | http://www.orpha.net/ORDO/Orphanet_207015 |
Mitochondrial disease with peripheral neuropathy | http://www.orpha.net/ORDO/Orphanet_225703 | http://www.orpha.net/ORDO/Orphanet_207018 |
Rare hereditary systemic disease with peripheral neuropathy | http://www.orpha.net/ORDO/Orphanet_207021 | http://www.orpha.net/ORDO/Orphanet_207015 |
Familial episodic pain syndrome | http://www.orpha.net/ORDO/Orphanet_391384 | http://www.orpha.net/ORDO/Orphanet_98497 |
Familial episodic pain syndrome with predominantly lower limb involvement | http://www.orpha.net/ORDO/Orphanet_391392 | http://www.orpha.net/ORDO/Orphanet_391384 |
Familial episodic pain syndrome with predominantly upper body involvement | http://www.orpha.net/ORDO/Orphanet_391389 | http://www.orpha.net/ORDO/Orphanet_391384 |
Distal hereditary motor neuropathy | http://www.orpha.net/ORDO/Orphanet_53739 | http://www.orpha.net/ORDO/Orphanet_98497 |
Progressive demyelinating neuropathy with bilateral striatal necrosis | http://www.orpha.net/ORDO/Orphanet_217396 | http://www.orpha.net/ORDO/Orphanet_98497 |
Rare pervasive developmental disorder | http://www.orpha.net/ORDO/Orphanet_168778 | http://www.orpha.net/ORDO/Orphanet_71859 |
Childhood disintegrative disorder | http://www.orpha.net/ORDO/Orphanet_168782 | http://www.orpha.net/ORDO/Orphanet_168778 |
Atypical autism | http://www.orpha.net/ORDO/Orphanet_199627 | http://www.orpha.net/ORDO/Orphanet_168778 |
Rare disease with autism | http://www.orpha.net/ORDO/Orphanet_180772 | http://www.orpha.net/ORDO/Orphanet_168778 |
Autism - facial port-wine stain | http://www.orpha.net/ORDO/Orphanet_137911 | http://www.orpha.net/ORDO/Orphanet_180772 |
Duplication/inversion 15q11 | http://www.orpha.net/ORDO/Orphanet_3306 | http://www.orpha.net/ORDO/Orphanet_180772 |
Macrocephaly-autism syndrome | http://www.orpha.net/ORDO/Orphanet_210548 | http://www.orpha.net/ORDO/Orphanet_180772 |
Developmental delay with autism spectrum disorder and gait instability | http://www.orpha.net/ORDO/Orphanet_329195 | http://www.orpha.net/ORDO/Orphanet_180772 |
Autism spectrum disorder due to AUTS2 deficiency | http://www.orpha.net/ORDO/Orphanet_352490 | http://www.orpha.net/ORDO/Orphanet_180772 |
Familial advanced sleep-phase syndrome | http://www.orpha.net/ORDO/Orphanet_164736 | http://www.orpha.net/ORDO/Orphanet_71859 |
congenital contractures of the limbs and face, hypotonia, and developmental delay | http://www.ebi.ac.uk/efo/EFO_1001868 | http://www.orpha.net/ORDO/Orphanet_71859 |
Leukodystrophy | http://www.orpha.net/ORDO/Orphanet_68356 | http://www.orpha.net/ORDO/Orphanet_71859 |
Unknown leukodystrophy | http://www.orpha.net/ORDO/Orphanet_84096 | http://www.orpha.net/ORDO/Orphanet_68356 |
Megalencephalic leukoencephalopathy with subcortical cysts | http://www.orpha.net/ORDO/Orphanet_2478 | http://www.orpha.net/ORDO/Orphanet_68356 |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema | http://www.orpha.net/ORDO/Orphanet_363540 | http://www.orpha.net/ORDO/Orphanet_68356 |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity | http://www.orpha.net/ORDO/Orphanet_363412 | http://www.orpha.net/ORDO/Orphanet_68356 |
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia | http://www.orpha.net/ORDO/Orphanet_313808 | http://www.orpha.net/ORDO/Orphanet_68356 |
Leukoencephalopathy with bilateral anterior temporal lobe cysts | http://www.orpha.net/ORDO/Orphanet_139444 | http://www.orpha.net/ORDO/Orphanet_68356 |
Hypomyelination with atrophy of basal ganglia and cerebellum | http://www.orpha.net/ORDO/Orphanet_139441 | http://www.orpha.net/ORDO/Orphanet_68356 |
Progressive cavitating leukoencephalopathy | http://www.orpha.net/ORDO/Orphanet_139447 | http://www.orpha.net/ORDO/Orphanet_68356 |
Nasu-Hakola disease | http://www.orpha.net/ORDO/Orphanet_2770 | http://www.orpha.net/ORDO/Orphanet_68356 |
CACH syndrome | http://www.orpha.net/ORDO/Orphanet_135 | http://www.orpha.net/ORDO/Orphanet_68356 |
Ovarioleukodystrophy | http://www.orpha.net/ORDO/Orphanet_99853 | http://www.orpha.net/ORDO/Orphanet_135 |
Juvenile or adult CACH syndrome | http://www.orpha.net/ORDO/Orphanet_157719 | http://www.orpha.net/ORDO/Orphanet_135 |
Congenital or early infantile CACH syndrome | http://www.orpha.net/ORDO/Orphanet_157713 | http://www.orpha.net/ORDO/Orphanet_135 |
Late infantile CACH syndrome | http://www.orpha.net/ORDO/Orphanet_157716 | http://www.orpha.net/ORDO/Orphanet_135 |
Cystic leukoencephalopathy without megalencephaly | http://www.orpha.net/ORDO/Orphanet_85136 | http://www.orpha.net/ORDO/Orphanet_68356 |
RAVINE syndrome | http://www.orpha.net/ORDO/Orphanet_99852 | http://www.orpha.net/ORDO/Orphanet_68356 |
Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism | http://www.orpha.net/ORDO/Orphanet_289494 | http://www.orpha.net/ORDO/Orphanet_68356 |
Leukoencephalopathy - ataxia - hypodontia - hypomyelination | http://www.orpha.net/ORDO/Orphanet_137639 | http://www.orpha.net/ORDO/Orphanet_289494 |
Odontoleukodystrophy | http://www.orpha.net/ORDO/Orphanet_77295 | http://www.orpha.net/ORDO/Orphanet_289494 |
Aicardi-Goutières syndrome | http://www.orpha.net/ORDO/Orphanet_51 | http://www.orpha.net/ORDO/Orphanet_68356 |
Neurometabolic disease | http://www.orpha.net/ORDO/Orphanet_68385 | http://www.orpha.net/ORDO/Orphanet_71859 |
Congenital disorder of glycosylation with neurological involvement | http://www.orpha.net/ORDO/Orphanet_371047 | http://www.orpha.net/ORDO/Orphanet_68385 |
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature | http://www.orpha.net/ORDO/Orphanet_371064 | http://www.orpha.net/ORDO/Orphanet_371047 |
Autosomal recessive limb-girdle muscular dystrophy type 2P | http://www.orpha.net/ORDO/Orphanet_280333 | http://www.orpha.net/ORDO/Orphanet_371064 |
Congenital disorder of glycosylation with epilepsy as a major feature | http://www.orpha.net/ORDO/Orphanet_371071 | http://www.orpha.net/ORDO/Orphanet_371047 |
Childhood apraxia of speech | http://www.orpha.net/ORDO/Orphanet_209908 | http://www.orpha.net/ORDO/Orphanet_71859 |
Paroxysmal extreme pain disorder | http://www.orpha.net/ORDO/Orphanet_46348 | http://www.orpha.net/ORDO/Orphanet_71859 |
Congenital intrauterine infection-like syndrome | http://www.orpha.net/ORDO/Orphanet_1229 | http://www.orpha.net/ORDO/Orphanet_71859 |
Rare genetic intellectual disability | http://www.orpha.net/ORDO/Orphanet_183757 | http://www.orpha.net/ORDO/Orphanet_71859 |
Rare intellectual disability without developmental anomaly | http://www.orpha.net/ORDO/Orphanet_101685 | http://www.orpha.net/ORDO/Orphanet_183757 |
Autosomal recessive non-syndromic intellectual disability | http://www.orpha.net/ORDO/Orphanet_88616 | http://www.orpha.net/ORDO/Orphanet_101685 |
Autosomal dominant non-syndromic intellectual disability | http://www.orpha.net/ORDO/Orphanet_178469 | http://www.orpha.net/ORDO/Orphanet_101685 |
white-sutton syndrome | http://www.ebi.ac.uk/efo/EFO_0009079 | http://www.orpha.net/ORDO/Orphanet_178469 |
intellectual disability, autosomal dominant 48 | http://www.ebi.ac.uk/efo/EFO_0009156 | http://www.orpha.net/ORDO/Orphanet_178469 |
intellectual disability, autosomal dominant 54 | http://www.ebi.ac.uk/efo/EFO_0009164 | http://www.orpha.net/ORDO/Orphanet_178469 |
X-linked non-syndromic intellectual disability | http://www.orpha.net/ORDO/Orphanet_777 | http://www.orpha.net/ORDO/Orphanet_101685 |
Rare genetic intellectual disability with developmental anomaly | http://www.orpha.net/ORDO/Orphanet_183763 | http://www.orpha.net/ORDO/Orphanet_183757 |
Microlissencephaly - micromelia | http://www.orpha.net/ORDO/Orphanet_50810 | http://www.orpha.net/ORDO/Orphanet_183763 |
Cleft palate - short stature - vertebral anomalies | http://www.orpha.net/ORDO/Orphanet_2015 | http://www.orpha.net/ORDO/Orphanet_183763 |
Acro-cardio-facial syndrome | http://www.orpha.net/ORDO/Orphanet_2008 | http://www.orpha.net/ORDO/Orphanet_183763 |
Prominent glabella - microcephaly - hypogenitalism | http://www.orpha.net/ORDO/Orphanet_2083 | http://www.orpha.net/ORDO/Orphanet_183763 |
Floating-Harbor syndrome | http://www.orpha.net/ORDO/Orphanet_2044 | http://www.orpha.net/ORDO/Orphanet_183763 |
Hirsutism-skeletal dysplasia-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_2156 | http://www.orpha.net/ORDO/Orphanet_183763 |
Nodular neuronal heterotopia | http://www.orpha.net/ORDO/Orphanet_2149 | http://www.orpha.net/ORDO/Orphanet_183763 |
Periventricular nodular heterotopia | http://www.orpha.net/ORDO/Orphanet_98892 | http://www.orpha.net/ORDO/Orphanet_2149 |
Subependymal nodular heterotopia | http://www.orpha.net/ORDO/Orphanet_101030 | http://www.orpha.net/ORDO/Orphanet_2149 |
Sub-cortical nodular heterotopia | http://www.orpha.net/ORDO/Orphanet_101029 | http://www.orpha.net/ORDO/Orphanet_2149 |
Microcephaly - glomerulonephritis - marfanoid habitus | http://www.orpha.net/ORDO/Orphanet_2172 | http://www.orpha.net/ORDO/Orphanet_183763 |
Holoprosencephaly - postaxial polydactyly | http://www.orpha.net/ORDO/Orphanet_2166 | http://www.orpha.net/ORDO/Orphanet_183763 |
15q24 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_94065 | http://www.orpha.net/ORDO/Orphanet_183763 |
Severe intellectual disability - epilepsy - anal anomalies - distal phalangeal hypoplasia | http://www.orpha.net/ORDO/Orphanet_94066 | http://www.orpha.net/ORDO/Orphanet_183763 |
Microbrachycephaly - ptosis - cleft lip | http://www.orpha.net/ORDO/Orphanet_2511 | http://www.orpha.net/ORDO/Orphanet_183763 |
Microcephaly - seizures - intellectual disability - heart disease | http://www.orpha.net/ORDO/Orphanet_2519 | http://www.orpha.net/ORDO/Orphanet_183763 |
Marfanoid habitus - intellectual disability, autosomal recessive | http://www.orpha.net/ORDO/Orphanet_2463 | http://www.orpha.net/ORDO/Orphanet_183763 |
Upper limb defect - eye and ear abnormalities | http://www.orpha.net/ORDO/Orphanet_2489 | http://www.orpha.net/ORDO/Orphanet_183763 |
Bird headed-dwarfism, Montreal type | http://www.orpha.net/ORDO/Orphanet_2617 | http://www.orpha.net/ORDO/Orphanet_183763 |
Microcephaly - cleft palate | http://www.orpha.net/ORDO/Orphanet_2521 | http://www.orpha.net/ORDO/Orphanet_183763 |
Microcephaly - cervical spine fusion anomalies | http://www.orpha.net/ORDO/Orphanet_2522 | http://www.orpha.net/ORDO/Orphanet_183763 |
Shoulder and girdle defects - familial intellectual disability | http://www.orpha.net/ORDO/Orphanet_2580 | http://www.orpha.net/ORDO/Orphanet_183763 |
Hypertelorism-microtia-facial clefting syndrome | http://www.orpha.net/ORDO/Orphanet_2213 | http://www.orpha.net/ORDO/Orphanet_183763 |
Ichthyosis - alopecia - eclabion - ectropion - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2269 | http://www.orpha.net/ORDO/Orphanet_183763 |
Hypotrichosis-intellectual disability, Lopes type | http://www.orpha.net/ORDO/Orphanet_2266 | http://www.orpha.net/ORDO/Orphanet_183763 |
Kaler-Garrity-Stern syndrome | http://www.orpha.net/ORDO/Orphanet_2324 | http://www.orpha.net/ORDO/Orphanet_183763 |
Kapur-Toriello syndrome | http://www.orpha.net/ORDO/Orphanet_2328 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | http://www.orpha.net/ORDO/Orphanet_363611 | http://www.orpha.net/ORDO/Orphanet_183763 |
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | http://www.orpha.net/ORDO/Orphanet_363686 | http://www.orpha.net/ORDO/Orphanet_183763 |
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | http://www.orpha.net/ORDO/Orphanet_289266 | http://www.orpha.net/ORDO/Orphanet_183763 |
3C syndrome | http://www.orpha.net/ORDO/Orphanet_7 | http://www.orpha.net/ORDO/Orphanet_183763 |
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_363523 | http://www.orpha.net/ORDO/Orphanet_183763 |
Syndromic neurometabolic disease with non-X-linked intellectual disability | http://www.orpha.net/ORDO/Orphanet_182073 | http://www.orpha.net/ORDO/Orphanet_183763 |
Recessive intellectual disability - motor dysfunction - multiple joint contractures | http://www.orpha.net/ORDO/Orphanet_280384 | http://www.orpha.net/ORDO/Orphanet_183763 |
Short ulna - dysmorphism - hypotonia - intellectual disability | http://www.orpha.net/ORDO/Orphanet_357175 | http://www.orpha.net/ORDO/Orphanet_183763 |
Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism | http://www.orpha.net/ORDO/Orphanet_91133 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability-facial dysmorphism-hand anomalies syndrome | http://www.orpha.net/ORDO/Orphanet_370010 | http://www.orpha.net/ORDO/Orphanet_183763 |
19p13.13 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_357001 | http://www.orpha.net/ORDO/Orphanet_183763 |
Proximal 16p11.2 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_370079 | http://www.orpha.net/ORDO/Orphanet_183763 |
Cerebro-oculo-nasal syndrome | http://www.orpha.net/ORDO/Orphanet_66625 | http://www.orpha.net/ORDO/Orphanet_183763 |
Agnathia - holoprosencephaly - situs inversus | http://www.orpha.net/ORDO/Orphanet_990 | http://www.orpha.net/ORDO/Orphanet_183763 |
Developmental and speech delay due to SOX5 deficiency | http://www.orpha.net/ORDO/Orphanet_313892 | http://www.orpha.net/ORDO/Orphanet_183763 |
Orofaciodigital syndrome type 5 | http://www.orpha.net/ORDO/Orphanet_2919 | http://www.orpha.net/ORDO/Orphanet_183763 |
Preaxial polydactyly - colobomata - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2921 | http://www.orpha.net/ORDO/Orphanet_183763 |
Polymicrogyria - turricephaly - hypogenitalism | http://www.orpha.net/ORDO/Orphanet_2925 | http://www.orpha.net/ORDO/Orphanet_183763 |
Polyneuropathy - intellectual disability - acromicria - premature menopause | http://www.orpha.net/ORDO/Orphanet_2928 | http://www.orpha.net/ORDO/Orphanet_183763 |
Pterygium colli - intellectual disability - digital anomalies | http://www.orpha.net/ORDO/Orphanet_2988 | http://www.orpha.net/ORDO/Orphanet_183763 |
Severe intellectual disability-progressive spastic diplegia syndrome | http://www.orpha.net/ORDO/Orphanet_404473 | http://www.orpha.net/ORDO/Orphanet_183763 |
Oculo-palato-cerebral syndrome | http://www.orpha.net/ORDO/Orphanet_2714 | http://www.orpha.net/ORDO/Orphanet_183763 |
Orofaciodigital syndrome type 10 | http://www.orpha.net/ORDO/Orphanet_2756 | http://www.orpha.net/ORDO/Orphanet_183763 |
Ophthalmoplegia - intellectual disability - lingua scrotalis | http://www.orpha.net/ORDO/Orphanet_2743 | http://www.orpha.net/ORDO/Orphanet_183763 |
Lethal omphalocele-cleft palate syndrome | http://www.orpha.net/ORDO/Orphanet_2736 | http://www.orpha.net/ORDO/Orphanet_183763 |
Dwarfism - intellectual disability - eye abnormality | http://www.orpha.net/ORDO/Orphanet_2650 | http://www.orpha.net/ORDO/Orphanet_183763 |
Short stature - intellectual disability - eye anomalies - cleft lip/palate | http://www.orpha.net/ORDO/Orphanet_2649 | http://www.orpha.net/ORDO/Orphanet_183763 |
Cardiocranial syndrome, Pfeiffer type | http://www.orpha.net/ORDO/Orphanet_2872 | http://www.orpha.net/ORDO/Orphanet_183763 |
Short stature - webbed neck - heart disease | http://www.orpha.net/ORDO/Orphanet_2865 | http://www.orpha.net/ORDO/Orphanet_183763 |
Alopecia-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_2850 | http://www.orpha.net/ORDO/Orphanet_183763 |
Pachygyria - intellectual disability - epilepsy | http://www.orpha.net/ORDO/Orphanet_2798 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome | http://www.orpha.net/ORDO/Orphanet_369837 | http://www.orpha.net/ORDO/Orphanet_183763 |
Primary non-essential cutis verticis gyrata | http://www.orpha.net/ORDO/Orphanet_357225 | http://www.orpha.net/ORDO/Orphanet_183763 |
8q21.11 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_284160 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | http://www.orpha.net/ORDO/Orphanet_404440 | http://www.orpha.net/ORDO/Orphanet_183763 |
Tall stature-intellectual disability-facial dysmorphism syndrome | http://www.orpha.net/ORDO/Orphanet_404443 | http://www.orpha.net/ORDO/Orphanet_183763 |
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder | http://www.orpha.net/ORDO/Orphanet_404448 | http://www.orpha.net/ORDO/Orphanet_183763 |
Atelosteogenesis type III | http://www.orpha.net/ORDO/Orphanet_56305 | http://www.orpha.net/ORDO/Orphanet_183763 |
Atelosteogenesis type II | http://www.orpha.net/ORDO/Orphanet_56304 | http://www.orpha.net/ORDO/Orphanet_183763 |
Fallot complex - intellectual disability - growth delay | http://www.orpha.net/ORDO/Orphanet_3304 | http://www.orpha.net/ORDO/Orphanet_183763 |
Urban-Rogers-Meyer syndrome | http://www.orpha.net/ORDO/Orphanet_3409 | http://www.orpha.net/ORDO/Orphanet_183763 |
Microcephaly - brachydactyly - kyphoscoliosis | http://www.orpha.net/ORDO/Orphanet_3433 | http://www.orpha.net/ORDO/Orphanet_183763 |
Omphalocele syndrome, Shprintzen-Goldberg type | http://www.orpha.net/ORDO/Orphanet_3164 | http://www.orpha.net/ORDO/Orphanet_183763 |
Lissencephaly | http://www.orpha.net/ORDO/Orphanet_48471 | http://www.orpha.net/ORDO/Orphanet_183763 |
Lissencephaly with cerebellar hypoplasia | http://www.orpha.net/ORDO/Orphanet_86823 | http://www.orpha.net/ORDO/Orphanet_48471 |
Lissencephaly with cerebellar hypoplasia type B | http://www.orpha.net/ORDO/Orphanet_100012 | http://www.orpha.net/ORDO/Orphanet_86823 |
Lissencephaly with cerebellar hypoplasia type C | http://www.orpha.net/ORDO/Orphanet_100013 | http://www.orpha.net/ORDO/Orphanet_86823 |
Lissencephaly with cerebellar hypoplasia type A | http://www.orpha.net/ORDO/Orphanet_100011 | http://www.orpha.net/ORDO/Orphanet_86823 |
Lissencephaly with cerebellar hypoplasia type F | http://www.orpha.net/ORDO/Orphanet_100016 | http://www.orpha.net/ORDO/Orphanet_86823 |
Lissencephaly with cerebellar hypoplasia type D | http://www.orpha.net/ORDO/Orphanet_100014 | http://www.orpha.net/ORDO/Orphanet_86823 |
Lissencephaly with cerebellar hypoplasia type E | http://www.orpha.net/ORDO/Orphanet_100015 | http://www.orpha.net/ORDO/Orphanet_86823 |
recessive lissencephaly | http://www.ebi.ac.uk/efo/EFO_0011063 | http://www.orpha.net/ORDO/Orphanet_48471 |
Microlissencephaly | http://www.orpha.net/ORDO/Orphanet_1083 | http://www.orpha.net/ORDO/Orphanet_48471 |
Microlissencephaly type B | http://www.orpha.net/ORDO/Orphanet_101052 | http://www.orpha.net/ORDO/Orphanet_1083 |
Lissencephaly syndrome, Norman-Roberts type | http://www.orpha.net/ORDO/Orphanet_89844 | http://www.orpha.net/ORDO/Orphanet_1083 |
Lissencephaly due to TUBA1A mutation | http://www.orpha.net/ORDO/Orphanet_171680 | http://www.orpha.net/ORDO/Orphanet_48471 |
Cobblestone lissencephaly | http://www.orpha.net/ORDO/Orphanet_51577 | http://www.orpha.net/ORDO/Orphanet_48471 |
Cobblestone lissencephaly without muscular or ocular involvement | http://www.orpha.net/ORDO/Orphanet_352682 | http://www.orpha.net/ORDO/Orphanet_51577 |
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | http://www.orpha.net/ORDO/Orphanet_352687 | http://www.orpha.net/ORDO/Orphanet_51577 |
Muscle-eye-brain disease with bilateral multicystic leucodystrophy | http://www.orpha.net/ORDO/Orphanet_370997 | http://www.orpha.net/ORDO/Orphanet_352687 |
Classic lissencephaly | http://www.orpha.net/ORDO/Orphanet_102009 | http://www.orpha.net/ORDO/Orphanet_48471 |
Miller-Dieker syndrome | http://www.orpha.net/ORDO/Orphanet_531 | http://www.orpha.net/ORDO/Orphanet_102009 |
Lissencephaly due to LIS1 mutation | http://www.orpha.net/ORDO/Orphanet_95232 | http://www.orpha.net/ORDO/Orphanet_102009 |
Isolated lissencephaly type 1 without known genetic defects | http://www.orpha.net/ORDO/Orphanet_1084 | http://www.orpha.net/ORDO/Orphanet_102009 |
Lissencephaly type 3 | http://www.orpha.net/ORDO/Orphanet_102011 | http://www.orpha.net/ORDO/Orphanet_48471 |
Lissencephaly type 3 - familial fetal akinesia sequence | http://www.orpha.net/ORDO/Orphanet_86821 | http://www.orpha.net/ORDO/Orphanet_102011 |
Lissencephaly type 3 - metacarpal bone dysplasia | http://www.orpha.net/ORDO/Orphanet_86822 | http://www.orpha.net/ORDO/Orphanet_102011 |
Other syndrome with lissencephaly as a major feature | http://www.orpha.net/ORDO/Orphanet_102010 | http://www.orpha.net/ORDO/Orphanet_48471 |
Craniotelencephalic dysplasia | http://www.orpha.net/ORDO/Orphanet_1528 | http://www.orpha.net/ORDO/Orphanet_102010 |
5p13 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_329802 | http://www.orpha.net/ORDO/Orphanet_183763 |
White matter hypoplasia - corpus callosum agenesis - intellectual disability | http://www.orpha.net/ORDO/Orphanet_3207 | http://www.orpha.net/ORDO/Orphanet_183763 |
Radio-ulnar synostosis - intellectual disability - hypotonia | http://www.orpha.net/ORDO/Orphanet_3270 | http://www.orpha.net/ORDO/Orphanet_183763 |
Arachnodactyly - abnormal ossification - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1129 | http://www.orpha.net/ORDO/Orphanet_183763 |
Aortic arch anomaly - peculiar facies - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1110 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - craniofacial dysmorphism - cryptorchidism | http://www.orpha.net/ORDO/Orphanet_329224 | http://www.orpha.net/ORDO/Orphanet_183763 |
Spondylocostal dysostosis - hypospadias - intellectual disability | http://www.orpha.net/ORDO/Orphanet_329252 | http://www.orpha.net/ORDO/Orphanet_183763 |
Blepharonasofacial malformation syndrome | http://www.orpha.net/ORDO/Orphanet_1252 | http://www.orpha.net/ORDO/Orphanet_183763 |
Brachydactyly - mesomelia - intellectual disability - heart defects | http://www.orpha.net/ORDO/Orphanet_1277 | http://www.orpha.net/ORDO/Orphanet_183763 |
Spondyloepiphyseal dysplasia tarda, Kohn type | http://www.orpha.net/ORDO/Orphanet_163665 | http://www.orpha.net/ORDO/Orphanet_183763 |
Spondyloepiphyseal dysplasia, Nishimura type | http://www.orpha.net/ORDO/Orphanet_163649 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability-severe speech delay-mild dysmorphism syndrome | http://www.orpha.net/ORDO/Orphanet_391372 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - hypotonia - spasticity - sleep disorder | http://www.orpha.net/ORDO/Orphanet_356996 | http://www.orpha.net/ORDO/Orphanet_183763 |
Alopecia-contractures-dwarfism-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_1005 | http://www.orpha.net/ORDO/Orphanet_183763 |
Alopecia - epilepsy - pyorrhea - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1008 | http://www.orpha.net/ORDO/Orphanet_183763 |
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | http://www.orpha.net/ORDO/Orphanet_329332 | http://www.orpha.net/ORDO/Orphanet_183763 |
Isolated anencephaly/exencephaly | http://www.orpha.net/ORDO/Orphanet_1048 | http://www.orpha.net/ORDO/Orphanet_183763 |
Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome | http://www.orpha.net/ORDO/Orphanet_391307 | http://www.orpha.net/ORDO/Orphanet_183763 |
Microcephaly - polymicrogyria - corpus callosum agenesis | http://www.orpha.net/ORDO/Orphanet_171703 | http://www.orpha.net/ORDO/Orphanet_183763 |
Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect | http://www.orpha.net/ORDO/Orphanet_254519 | http://www.orpha.net/ORDO/Orphanet_183763 |
Paternal uniparental disomy of chromosome 14 | http://www.orpha.net/ORDO/Orphanet_96334 | http://www.orpha.net/ORDO/Orphanet_254519 |
Maternal 14q32.2 hypermethylation syndrome | http://www.orpha.net/ORDO/Orphanet_254534 | http://www.orpha.net/ORDO/Orphanet_254519 |
Maternal 14q32.2 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_254528 | http://www.orpha.net/ORDO/Orphanet_254519 |
Intellectual disability - short stature - hypertelorism | http://www.orpha.net/ORDO/Orphanet_3074 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability, Buenos-Aires type | http://www.orpha.net/ORDO/Orphanet_3079 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability, Wolff type | http://www.orpha.net/ORDO/Orphanet_3080 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - polydactyly - uncombable hair | http://www.orpha.net/ORDO/Orphanet_3082 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - microcephaly - phalangeal - facial abnormalities | http://www.orpha.net/ORDO/Orphanet_3067 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - myopathy - short stature - endocrine defect | http://www.orpha.net/ORDO/Orphanet_3068 | http://www.orpha.net/ORDO/Orphanet_183763 |
Genitopatellar syndrome | http://www.orpha.net/ORDO/Orphanet_85201 | http://www.orpha.net/ORDO/Orphanet_183763 |
Global developmental delay - osteopenia - ectodermal defect | http://www.orpha.net/ORDO/Orphanet_73223 | http://www.orpha.net/ORDO/Orphanet_183763 |
Ossification anomalies - psychomotor development delay | http://www.orpha.net/ORDO/Orphanet_73230 | http://www.orpha.net/ORDO/Orphanet_183763 |
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay | http://www.orpha.net/ORDO/Orphanet_73246 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - balding - patella luxation - acromicria | http://www.orpha.net/ORDO/Orphanet_3041 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - cataracts - calcified pinnae - myopathy | http://www.orpha.net/ORDO/Orphanet_3042 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus | http://www.orpha.net/ORDO/Orphanet_3044 | http://www.orpha.net/ORDO/Orphanet_183763 |
Mandibulofacial dysostosis-microcephaly syndrome | http://www.orpha.net/ORDO/Orphanet_79113 | http://www.orpha.net/ORDO/Orphanet_183763 |
Distal 17p13.1 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_319171 | http://www.orpha.net/ORDO/Orphanet_183763 |
Epilepsy telangiectasia | http://www.orpha.net/ORDO/Orphanet_1951 | http://www.orpha.net/ORDO/Orphanet_183763 |
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation | http://www.orpha.net/ORDO/Orphanet_1970 | http://www.orpha.net/ORDO/Orphanet_183763 |
Epilepsy - microcephaly - skeletal dysplasia | http://www.orpha.net/ORDO/Orphanet_1948 | http://www.orpha.net/ORDO/Orphanet_183763 |
Ptosis - syndactyly - learning difficulties | http://www.orpha.net/ORDO/Orphanet_238766 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - spasticity - ectrodactyly | http://www.orpha.net/ORDO/Orphanet_1891 | http://www.orpha.net/ORDO/Orphanet_183763 |
Skeletal dysplasia - epilepsy - short stature | http://www.orpha.net/ORDO/Orphanet_1858 | http://www.orpha.net/ORDO/Orphanet_183763 |
Epiphyseal dysplasia - hearing loss - dysmorphism | http://www.orpha.net/ORDO/Orphanet_1825 | http://www.orpha.net/ORDO/Orphanet_183763 |
Polymicrogyria | http://www.orpha.net/ORDO/Orphanet_35981 | http://www.orpha.net/ORDO/Orphanet_183763 |
Bilateral polymicrogyria | http://www.orpha.net/ORDO/Orphanet_268940 | http://www.orpha.net/ORDO/Orphanet_35981 |
Bilateral perisylvian polymicrogyria | http://www.orpha.net/ORDO/Orphanet_98889 | http://www.orpha.net/ORDO/Orphanet_268940 |
Bilateral frontal polymicrogyria | http://www.orpha.net/ORDO/Orphanet_208444 | http://www.orpha.net/ORDO/Orphanet_268940 |
Polymicrogyria due to TUBB2B mutation | http://www.orpha.net/ORDO/Orphanet_300573 | http://www.orpha.net/ORDO/Orphanet_208444 |
Bilateral generalized polymicrogyria | http://www.orpha.net/ORDO/Orphanet_208447 | http://www.orpha.net/ORDO/Orphanet_268940 |
Bilateral parasagittal parieto-occipital polymicrogyria | http://www.orpha.net/ORDO/Orphanet_208441 | http://www.orpha.net/ORDO/Orphanet_268940 |
Bilateral frontoparietal polymicrogyria | http://www.orpha.net/ORDO/Orphanet_101070 | http://www.orpha.net/ORDO/Orphanet_268940 |
Unilateral polymicrogyria | http://www.orpha.net/ORDO/Orphanet_268943 | http://www.orpha.net/ORDO/Orphanet_35981 |
Unilateral hemispheric polymicrogyria | http://www.orpha.net/ORDO/Orphanet_101071 | http://www.orpha.net/ORDO/Orphanet_268943 |
Unilateral focal polymicrogyria | http://www.orpha.net/ORDO/Orphanet_268947 | http://www.orpha.net/ORDO/Orphanet_268943 |
Uveal coloboma - cleft lip and palate - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1473 | http://www.orpha.net/ORDO/Orphanet_183763 |
Contractures - ectodermal dysplasia - cleft lip/palate | http://www.orpha.net/ORDO/Orphanet_1484 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - hypoplastic corpus callosum - preauricular tag | http://www.orpha.net/ORDO/Orphanet_1495 | http://www.orpha.net/ORDO/Orphanet_183763 |
Craniodigital syndrome - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1514 | http://www.orpha.net/ORDO/Orphanet_183763 |
Gómez-López-Hernández syndrome | http://www.orpha.net/ORDO/Orphanet_1532 | http://www.orpha.net/ORDO/Orphanet_183763 |
Cryptorchidism - arachnodactyly - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1548 | http://www.orpha.net/ORDO/Orphanet_183763 |
Heart defect - round face - congenital developmental delay | http://www.orpha.net/ORDO/Orphanet_1355 | http://www.orpha.net/ORDO/Orphanet_183763 |
Cortical blindness - intellectual disability - polydactyly | http://www.orpha.net/ORDO/Orphanet_1389 | http://www.orpha.net/ORDO/Orphanet_183763 |
Hair defect - photosensitivity - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1408 | http://www.orpha.net/ORDO/Orphanet_183763 |
Temtamy syndrome | http://www.orpha.net/ORDO/Orphanet_1777 | http://www.orpha.net/ORDO/Orphanet_183763 |
Facial dysmorphism - shawl scrotum - joint laxity | http://www.orpha.net/ORDO/Orphanet_1778 | http://www.orpha.net/ORDO/Orphanet_183763 |
Acrofacial dysostosis, RodrÃguez type | http://www.orpha.net/ORDO/Orphanet_1788 | http://www.orpha.net/ORDO/Orphanet_183763 |
Acrofacial dysostosis, Catania type | http://www.orpha.net/ORDO/Orphanet_1786 | http://www.orpha.net/ORDO/Orphanet_183763 |
Acrocallosal syndrome | http://www.orpha.net/ORDO/Orphanet_36 | http://www.orpha.net/ORDO/Orphanet_183763 |
Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability | http://www.orpha.net/ORDO/Orphanet_324540 | http://www.orpha.net/ORDO/Orphanet_183763 |
Macrocephaly-developmental delay syndrome | http://www.orpha.net/ORDO/Orphanet_397612 | http://www.orpha.net/ORDO/Orphanet_183763 |
Microcephaly-thin corpus callosum-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_397951 | http://www.orpha.net/ORDO/Orphanet_183763 |
Microcephalic primordial dwarfism | http://www.orpha.net/ORDO/Orphanet_324761 | http://www.orpha.net/ORDO/Orphanet_183763 |
Microcephalic osteodysplastic primordial dwarfism types I and III | http://www.orpha.net/ORDO/Orphanet_2636 | http://www.orpha.net/ORDO/Orphanet_324761 |
Ear-patella-short stature syndrome | http://www.orpha.net/ORDO/Orphanet_2554 | http://www.orpha.net/ORDO/Orphanet_324761 |
Microcephalic primordial dwarfism, Toriello type | http://www.orpha.net/ORDO/Orphanet_2643 | http://www.orpha.net/ORDO/Orphanet_324761 |
Microcephalic primordial dwarfism due to ZNF335 deficiency | http://www.orpha.net/ORDO/Orphanet_329228 | http://www.orpha.net/ORDO/Orphanet_324761 |
Microcephalic osteodysplastic dysplasia, Saul-Wilson type | http://www.orpha.net/ORDO/Orphanet_85172 | http://www.orpha.net/ORDO/Orphanet_324761 |
Microcephalic primordial dwarfism, Dauber type | http://www.orpha.net/ORDO/Orphanet_319675 | http://www.orpha.net/ORDO/Orphanet_324761 |
Microcephalic primordial dwarfism, Alazami type | http://www.orpha.net/ORDO/Orphanet_319671 | http://www.orpha.net/ORDO/Orphanet_324761 |
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | http://www.orpha.net/ORDO/Orphanet_397709 | http://www.orpha.net/ORDO/Orphanet_183763 |
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency | http://www.orpha.net/ORDO/Orphanet_352577 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability-brachydactyly-Pierre Robin syndrome | http://www.orpha.net/ORDO/Orphanet_364577 | http://www.orpha.net/ORDO/Orphanet_183763 |
Blepharophimosis-intellectual disability syndrome | http://www.orpha.net/ORDO/Orphanet_293642 | http://www.orpha.net/ORDO/Orphanet_183763 |
Blepharophimosis-intellectual disability syndrome, Ohdo type | http://www.orpha.net/ORDO/Orphanet_2728 | http://www.orpha.net/ORDO/Orphanet_293642 |
Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency | http://www.orpha.net/ORDO/Orphanet_329255 | http://www.orpha.net/ORDO/Orphanet_293642 |
Blepharophimosis-intellectual disability syndrome, MKB type | http://www.orpha.net/ORDO/Orphanet_293707 | http://www.orpha.net/ORDO/Orphanet_293642 |
Blepharophimosis-intellectual disability syndrome, Verloes type | http://www.orpha.net/ORDO/Orphanet_293725 | http://www.orpha.net/ORDO/Orphanet_293642 |
Qazi-Markouizos syndrome | http://www.orpha.net/ORDO/Orphanet_3010 | http://www.orpha.net/ORDO/Orphanet_183763 |
Delayed speech - facial asymmetry - strabismus - ear lobe creases | http://www.orpha.net/ORDO/Orphanet_3038 | http://www.orpha.net/ORDO/Orphanet_183763 |
intellectual disability - sparse hair - brachydactyly | http://www.orpha.net/ORDO/Orphanet_3051 | http://www.orpha.net/ORDO/Orphanet_183763 |
Intellectual disability - hypotonia - skin hyperpigmentation | http://www.orpha.net/ORDO/Orphanet_3050 | http://www.orpha.net/ORDO/Orphanet_183763 |
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | http://www.ebi.ac.uk/efo/EFO_0009015 | http://www.orpha.net/ORDO/Orphanet_183757 |
Rare genetic epilepsy | http://www.orpha.net/ORDO/Orphanet_183512 | http://www.orpha.net/ORDO/Orphanet_71859 |
Neurocutaneous syndrome with epilepsy | http://www.orpha.net/ORDO/Orphanet_166466 | http://www.orpha.net/ORDO/Orphanet_183512 |
Epilepsy syndrome | http://www.orpha.net/ORDO/Orphanet_166463 | http://www.orpha.net/ORDO/Orphanet_183512 |
Adolescent-onset epilepsy syndrome | http://www.orpha.net/ORDO/Orphanet_98260 | http://www.orpha.net/ORDO/Orphanet_166463 |
Progressive myoclonic epilepsy | http://www.orpha.net/ORDO/Orphanet_98261 | http://www.orpha.net/ORDO/Orphanet_98260 |
Early-onset Lafora body disease | http://www.orpha.net/ORDO/Orphanet_324290 | http://www.orpha.net/ORDO/Orphanet_98261 |
Progressive myoclonic epilepsy type 6 | http://www.orpha.net/ORDO/Orphanet_280620 | http://www.orpha.net/ORDO/Orphanet_98261 |
Familial encephalopathy with neuroserpin inclusion bodies | http://www.orpha.net/ORDO/Orphanet_85110 | http://www.orpha.net/ORDO/Orphanet_98261 |
Familial partial epilepsy | http://www.orpha.net/ORDO/Orphanet_309 | http://www.orpha.net/ORDO/Orphanet_98260 |
Familial focal epilepsy with variable foci | http://www.orpha.net/ORDO/Orphanet_98820 | http://www.orpha.net/ORDO/Orphanet_309 |
Autosomal dominant nocturnal frontal lobe epilepsy | http://www.orpha.net/ORDO/Orphanet_98784 | http://www.orpha.net/ORDO/Orphanet_309 |
Generalized epilepsy with febrile seizures-plus | http://www.orpha.net/ORDO/Orphanet_36387 | http://www.orpha.net/ORDO/Orphanet_309 |
Benign familial mesial temporal lobe epilepsy | http://www.orpha.net/ORDO/Orphanet_163717 | http://www.orpha.net/ORDO/Orphanet_309 |
Familial mesial temporal lobe epilepsy with febrile seizures | http://www.orpha.net/ORDO/Orphanet_165805 | http://www.orpha.net/ORDO/Orphanet_309 |
Juvenile absence epilepsy | http://www.orpha.net/ORDO/Orphanet_1941 | http://www.orpha.net/ORDO/Orphanet_309 |
Rolandic epilepsy | http://www.orpha.net/ORDO/Orphanet_1945 | http://www.orpha.net/ORDO/Orphanet_309 |
Benign familial neonatal seizures | http://www.orpha.net/ORDO/Orphanet_1949 | http://www.orpha.net/ORDO/Orphanet_309 |
Generalized epilepsy - paroxysmal dyskinesia | http://www.orpha.net/ORDO/Orphanet_79137 | http://www.orpha.net/ORDO/Orphanet_309 |
Infantile epilepsy syndrome | http://www.orpha.net/ORDO/Orphanet_98258 | http://www.orpha.net/ORDO/Orphanet_166463 |
Myoclonic epilepsy of infancy | http://www.orpha.net/ORDO/Orphanet_86909 | http://www.orpha.net/ORDO/Orphanet_98258 |
Myoclonic epilepsy in non-progressive encephalopathies | http://www.orpha.net/ORDO/Orphanet_86913 | http://www.orpha.net/ORDO/Orphanet_98258 |
Benign partial infantile seizures | http://www.orpha.net/ORDO/Orphanet_166311 | http://www.orpha.net/ORDO/Orphanet_98258 |
Benign familial neonatal-infantile seizures | http://www.orpha.net/ORDO/Orphanet_140927 | http://www.orpha.net/ORDO/Orphanet_166311 |
Benign infantile seizures associated to mild gastroenteritis | http://www.orpha.net/ORDO/Orphanet_166305 | http://www.orpha.net/ORDO/Orphanet_166311 |
Benign infantile focal epilepsy with midline spikes and wave during sleep | http://www.orpha.net/ORDO/Orphanet_166308 | http://www.orpha.net/ORDO/Orphanet_166311 |
Benign non-familial infantile seizures | http://www.orpha.net/ORDO/Orphanet_166295 | http://www.orpha.net/ORDO/Orphanet_166311 |
Benign partial epilepsy with secondarily generalized seizures in infancy | http://www.orpha.net/ORDO/Orphanet_166302 | http://www.orpha.net/ORDO/Orphanet_166295 |
Benign partial epilepsy of infancy with complex partial seizures | http://www.orpha.net/ORDO/Orphanet_166299 | http://www.orpha.net/ORDO/Orphanet_166295 |
Benign familial infantile epilepsy | http://www.orpha.net/ORDO/Orphanet_306 | http://www.orpha.net/ORDO/Orphanet_166311 |
Early infantile epileptic encephalopathy without suppression burst | http://www.orpha.net/ORDO/Orphanet_369894 | http://www.orpha.net/ORDO/Orphanet_98258 |
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression | http://www.orpha.net/ORDO/Orphanet_391316 | http://www.orpha.net/ORDO/Orphanet_98258 |
Progressive myoclonic epilepsy with dystonia | http://www.orpha.net/ORDO/Orphanet_352596 | http://www.orpha.net/ORDO/Orphanet_98258 |
Familial infantile myoclonic epilepsy | http://www.orpha.net/ORDO/Orphanet_352582 | http://www.orpha.net/ORDO/Orphanet_98258 |
Childhood-onset epilepsy syndrome | http://www.orpha.net/ORDO/Orphanet_98259 | http://www.orpha.net/ORDO/Orphanet_166463 |
Benign occipital epilepsy | http://www.orpha.net/ORDO/Orphanet_25968 | http://www.orpha.net/ORDO/Orphanet_98259 |
Benign childhood occipital epilepsy, Gastaut type | http://www.orpha.net/ORDO/Orphanet_98816 | http://www.orpha.net/ORDO/Orphanet_25968 |
Benign childhood occipital epilepsy, Panayiotopoulos type | http://www.orpha.net/ORDO/Orphanet_98815 | http://www.orpha.net/ORDO/Orphanet_25968 |
Continuous spikes and waves during sleep | http://www.orpha.net/ORDO/Orphanet_725 | http://www.orpha.net/ORDO/Orphanet_98259 |
Cryptogenic late-onset epileptic spasms | http://www.orpha.net/ORDO/Orphanet_163708 | http://www.orpha.net/ORDO/Orphanet_98259 |
Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp | http://www.orpha.net/ORDO/Orphanet_163727 | http://www.orpha.net/ORDO/Orphanet_98259 |
Myoclonic-astastic epilepsy | http://www.orpha.net/ORDO/Orphanet_1942 | http://www.orpha.net/ORDO/Orphanet_98259 |
Neonatal epilepsy syndrome | http://www.orpha.net/ORDO/Orphanet_98257 | http://www.orpha.net/ORDO/Orphanet_166463 |
Malignant migrating partial seizures of infancy | http://www.orpha.net/ORDO/Orphanet_293181 | http://www.orpha.net/ORDO/Orphanet_98257 |
Severe neonatal-onset encephalopathy with microcephaly | http://www.orpha.net/ORDO/Orphanet_209370 | http://www.orpha.net/ORDO/Orphanet_98257 |
Infantile spasms - broad thumbs | http://www.orpha.net/ORDO/Orphanet_3173 | http://www.orpha.net/ORDO/Orphanet_166463 |
Cortical dysplasia - focal epilepsy syndrome | http://www.orpha.net/ORDO/Orphanet_163681 | http://www.orpha.net/ORDO/Orphanet_166463 |
PEHO-like syndrome | http://www.orpha.net/ORDO/Orphanet_99807 | http://www.orpha.net/ORDO/Orphanet_166463 |
Cerebral malformation with epilepsy | http://www.orpha.net/ORDO/Orphanet_166478 | http://www.orpha.net/ORDO/Orphanet_183512 |
Hypothalamic hamartomas with gelastic seizures | http://www.orpha.net/ORDO/Orphanet_86906 | http://www.orpha.net/ORDO/Orphanet_166478 |
Porencephaly | http://www.orpha.net/ORDO/Orphanet_2940 | http://www.orpha.net/ORDO/Orphanet_166478 |
Acquired porencephaly | http://www.orpha.net/ORDO/Orphanet_314697 | http://www.orpha.net/ORDO/Orphanet_2940 |
Familial porencephaly | http://www.orpha.net/ORDO/Orphanet_99810 | http://www.orpha.net/ORDO/Orphanet_2940 |
Schizencephaly | http://www.orpha.net/ORDO/Orphanet_799 | http://www.orpha.net/ORDO/Orphanet_166478 |
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome | http://www.orpha.net/ORDO/Orphanet_404437 | http://www.orpha.net/ORDO/Orphanet_166478 |
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome | http://www.orpha.net/ORDO/Orphanet_401959 | http://www.orpha.net/ORDO/Orphanet_166478 |
Hemimegalencephaly | http://www.orpha.net/ORDO/Orphanet_99802 | http://www.orpha.net/ORDO/Orphanet_166478 |
Focal epilepsy - intellectual disability - cerebro-cerebellar malformation | http://www.orpha.net/ORDO/Orphanet_352587 | http://www.orpha.net/ORDO/Orphanet_166478 |
Non-syndromic cerebral malformation due to abnormal neuronal migration | http://www.orpha.net/ORDO/Orphanet_163209 | http://www.orpha.net/ORDO/Orphanet_166478 |
Occipital pachygyria and polymicrogyria | http://www.orpha.net/ORDO/Orphanet_280640 | http://www.orpha.net/ORDO/Orphanet_163209 |
Autosomal recessive frontotemporal pachygyria | http://www.orpha.net/ORDO/Orphanet_329329 | http://www.orpha.net/ORDO/Orphanet_163209 |
Subcortical band heterotopia | http://www.orpha.net/ORDO/Orphanet_99796 | http://www.orpha.net/ORDO/Orphanet_163209 |
Cerebral cortical dysplasia | http://www.orpha.net/ORDO/Orphanet_268950 | http://www.orpha.net/ORDO/Orphanet_163209 |
Central bilateral macrogyria | http://www.orpha.net/ORDO/Orphanet_2431 | http://www.orpha.net/ORDO/Orphanet_268950 |
Isolated focal cortical dysplasia | http://www.orpha.net/ORDO/Orphanet_65683 | http://www.orpha.net/ORDO/Orphanet_268950 |
Isolated focal cortical dysplasia type I | http://www.orpha.net/ORDO/Orphanet_268961 | http://www.orpha.net/ORDO/Orphanet_65683 |
Isolated focal cortical dysplasia type Ia | http://www.orpha.net/ORDO/Orphanet_268973 | http://www.orpha.net/ORDO/Orphanet_268961 |
Isolated focal cortical dysplasia type Ib | http://www.orpha.net/ORDO/Orphanet_268980 | http://www.orpha.net/ORDO/Orphanet_268961 |
Isolated focal cortical dysplasia type Ic | http://www.orpha.net/ORDO/Orphanet_268987 | http://www.orpha.net/ORDO/Orphanet_268961 |
Isolated focal cortical dysplasia type II | http://www.orpha.net/ORDO/Orphanet_268994 | http://www.orpha.net/ORDO/Orphanet_65683 |
Isolated focal cortical dysplasia type IIa | http://www.orpha.net/ORDO/Orphanet_269001 | http://www.orpha.net/ORDO/Orphanet_268994 |
Isolated focal cortical dysplasia type IIb | http://www.orpha.net/ORDO/Orphanet_269008 | http://www.orpha.net/ORDO/Orphanet_268994 |
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | http://www.orpha.net/ORDO/Orphanet_300570 | http://www.orpha.net/ORDO/Orphanet_163209 |
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes | http://www.orpha.net/ORDO/Orphanet_166475 | http://www.orpha.net/ORDO/Orphanet_183512 |
Monogenic disease with epilepsy | http://www.orpha.net/ORDO/Orphanet_166472 | http://www.orpha.net/ORDO/Orphanet_183512 |
Microcephaly - seizures - developmental delay | http://www.orpha.net/ORDO/Orphanet_228418 | http://www.orpha.net/ORDO/Orphanet_166472 |
Channelopathy with epilepsy | http://www.orpha.net/ORDO/Orphanet_182083 | http://www.orpha.net/ORDO/Orphanet_166472 |
Lethal neonatal spasticity-epileptic encephalopathy syndrome | http://www.ebi.ac.uk/efo/EFO_0009144 | http://www.orpha.net/ORDO/Orphanet_166472 |
Cerebral diseases of vascular origin with epilepsy | http://www.orpha.net/ORDO/Orphanet_166487 | http://www.orpha.net/ORDO/Orphanet_183512 |
Hereditary neurocutaneous angioma | http://www.orpha.net/ORDO/Orphanet_1062 | http://www.orpha.net/ORDO/Orphanet_166487 |
Rare genetic medullar disease | http://www.orpha.net/ORDO/Orphanet_183515 | http://www.orpha.net/ORDO/Orphanet_71859 |
Ataxia - pancytopenia | http://www.orpha.net/ORDO/Orphanet_2585 | http://www.orpha.net/ORDO/Orphanet_183515 |
Primary basilar impression | http://www.orpha.net/ORDO/Orphanet_2285 | http://www.orpha.net/ORDO/Orphanet_183515 |
Familial syringomyelia | http://www.orpha.net/ORDO/Orphanet_370034 | http://www.orpha.net/ORDO/Orphanet_183515 |
Rare hereditary ataxia | http://www.orpha.net/ORDO/Orphanet_183518 | http://www.orpha.net/ORDO/Orphanet_71859 |
Spastic ataxia | http://www.orpha.net/ORDO/Orphanet_316226 | http://www.orpha.net/ORDO/Orphanet_183518 |
Autosomal dominant spastic ataxia | http://www.orpha.net/ORDO/Orphanet_316235 | http://www.orpha.net/ORDO/Orphanet_316226 |
Spastic ataxia with congenital miosis | http://www.orpha.net/ORDO/Orphanet_1182 | http://www.orpha.net/ORDO/Orphanet_316235 |
Autosomal recessive spastic ataxia | http://www.orpha.net/ORDO/Orphanet_316240 | http://www.orpha.net/ORDO/Orphanet_316226 |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay | http://www.orpha.net/ORDO/Orphanet_98 | http://www.orpha.net/ORDO/Orphanet_316240 |
Ichthyosis - hepatosplenomegaly - cerebellar degeneration | http://www.orpha.net/ORDO/Orphanet_2274 | http://www.orpha.net/ORDO/Orphanet_183518 |
Hereditary episodic ataxia | http://www.orpha.net/ORDO/Orphanet_211062 | http://www.orpha.net/ORDO/Orphanet_183518 |
Episodic ataxia type 1 | http://www.orpha.net/ORDO/Orphanet_37612 | http://www.orpha.net/ORDO/Orphanet_211062 |
Episodic ataxia type 5 | http://www.orpha.net/ORDO/Orphanet_211067 | http://www.orpha.net/ORDO/Orphanet_211062 |
Episodic ataxia type 6 | http://www.orpha.net/ORDO/Orphanet_209967 | http://www.orpha.net/ORDO/Orphanet_211062 |
Episodic ataxia type 7 | http://www.orpha.net/ORDO/Orphanet_209970 | http://www.orpha.net/ORDO/Orphanet_211062 |
Episodic ataxia with slurred speech | http://www.orpha.net/ORDO/Orphanet_401953 | http://www.orpha.net/ORDO/Orphanet_211062 |
Familial paroxysmal ataxia | http://www.orpha.net/ORDO/Orphanet_97 | http://www.orpha.net/ORDO/Orphanet_211062 |
Episodic ataxia type 3 | http://www.orpha.net/ORDO/Orphanet_79135 | http://www.orpha.net/ORDO/Orphanet_211062 |
Episodic ataxia type 4 | http://www.orpha.net/ORDO/Orphanet_79136 | http://www.orpha.net/ORDO/Orphanet_211062 |
Spinocerebellar ataxia - dysmorphism | http://www.orpha.net/ORDO/Orphanet_1185 | http://www.orpha.net/ORDO/Orphanet_183518 |
Ataxia - tapetoretinal degeneration | http://www.orpha.net/ORDO/Orphanet_1178 | http://www.orpha.net/ORDO/Orphanet_183518 |
Genetic central nervous system and retinal vascular disease | http://www.orpha.net/ORDO/Orphanet_183503 | http://www.orpha.net/ORDO/Orphanet_71859 |
Familial cerebral saccular aneurysm | http://www.orpha.net/ORDO/Orphanet_231160 | http://www.orpha.net/ORDO/Orphanet_183503 |
Primary central nervous system vasculitis | http://www.orpha.net/ORDO/Orphanet_140989 | http://www.orpha.net/ORDO/Orphanet_183503 |
Familial cervical artery dissections | http://www.orpha.net/ORDO/Orphanet_36382 | http://www.orpha.net/ORDO/Orphanet_183503 |
Retinal arterial tortuosity | http://www.orpha.net/ORDO/Orphanet_75326 | http://www.orpha.net/ORDO/Orphanet_183503 |
Genetic neurovascular malformation | http://www.orpha.net/ORDO/Orphanet_371436 | http://www.orpha.net/ORDO/Orphanet_183503 |
Cerebral arteriovenous malformation | http://www.orpha.net/ORDO/Orphanet_46724 | http://www.orpha.net/ORDO/Orphanet_371436 |
Glomuvenous malformation | http://www.orpha.net/ORDO/Orphanet_83454 | http://www.orpha.net/ORDO/Orphanet_371436 |
Not NOTCH3-related small vessel disease of the brain | http://www.orpha.net/ORDO/Orphanet_77304 | http://www.orpha.net/ORDO/Orphanet_183503 |
CARASIL | http://www.orpha.net/ORDO/Orphanet_199354 | http://www.orpha.net/ORDO/Orphanet_183503 |
Genetic central nervous system malformation | http://www.orpha.net/ORDO/Orphanet_183506 | http://www.orpha.net/ORDO/Orphanet_71859 |
Genetic non-syndromic central nervous system malformation | http://www.orpha.net/ORDO/Orphanet_269550 | http://www.orpha.net/ORDO/Orphanet_183506 |
Congenital hydrocephalus | http://www.orpha.net/ORDO/Orphanet_2185 | http://www.orpha.net/ORDO/Orphanet_269550 |
Congenital communicating hydrocephalus | http://www.orpha.net/ORDO/Orphanet_269505 | http://www.orpha.net/ORDO/Orphanet_2185 |
Congenital non-communicating hydrocephalus | http://www.orpha.net/ORDO/Orphanet_269510 | http://www.orpha.net/ORDO/Orphanet_2185 |
Genetic cerebral malformation | http://www.orpha.net/ORDO/Orphanet_269553 | http://www.orpha.net/ORDO/Orphanet_269550 |
Encephaloclastic disorder | http://www.orpha.net/ORDO/Orphanet_269190 | http://www.orpha.net/ORDO/Orphanet_269553 |
Hydranencephaly | http://www.orpha.net/ORDO/Orphanet_2177 | http://www.orpha.net/ORDO/Orphanet_269190 |
Isolated congenital microcephaly | http://www.orpha.net/ORDO/Orphanet_199642 | http://www.orpha.net/ORDO/Orphanet_269553 |
Autosomal dominant microcephaly | http://www.orpha.net/ORDO/Orphanet_2514 | http://www.orpha.net/ORDO/Orphanet_199642 |
Midline cerebral malformation | http://www.orpha.net/ORDO/Orphanet_268926 | http://www.orpha.net/ORDO/Orphanet_269553 |
Duplication of the pituitary gland | http://www.orpha.net/ORDO/Orphanet_314621 | http://www.orpha.net/ORDO/Orphanet_268926 |
Aprosencephaly cerebellar dysgenesis | http://www.orpha.net/ORDO/Orphanet_1126 | http://www.orpha.net/ORDO/Orphanet_268926 |
Diencephalic-mesencephalic junction dysplasia | http://www.orpha.net/ORDO/Orphanet_319192 | http://www.orpha.net/ORDO/Orphanet_269553 |
Genetic posterior fossa malformation | http://www.orpha.net/ORDO/Orphanet_269557 | http://www.orpha.net/ORDO/Orphanet_269550 |
Genetic cerebellar malformation | http://www.orpha.net/ORDO/Orphanet_269560 | http://www.orpha.net/ORDO/Orphanet_269557 |
Non-syndromic pontocerebellar hypoplasia | http://www.orpha.net/ORDO/Orphanet_98523 | http://www.orpha.net/ORDO/Orphanet_269557 |
Pontocerebellar hypoplasia type 2 | http://www.orpha.net/ORDO/Orphanet_2524 | http://www.orpha.net/ORDO/Orphanet_98523 |
Pontocerebellar hypoplasia type 1 | http://www.orpha.net/ORDO/Orphanet_2254 | http://www.orpha.net/ORDO/Orphanet_98523 |
Pontocerebellar hypoplasia type 4 | http://www.orpha.net/ORDO/Orphanet_166063 | http://www.orpha.net/ORDO/Orphanet_98523 |
Pontocerebellar hypoplasia type 5 | http://www.orpha.net/ORDO/Orphanet_166068 | http://www.orpha.net/ORDO/Orphanet_98523 |
Pontocerebellar hypoplasia type 9 | http://www.orpha.net/ORDO/Orphanet_369920 | http://www.orpha.net/ORDO/Orphanet_98523 |
Pontocerebellar hypoplasia type 7 | http://www.orpha.net/ORDO/Orphanet_284339 | http://www.orpha.net/ORDO/Orphanet_98523 |
Pontocerebellar hypoplasia type 8 | http://www.orpha.net/ORDO/Orphanet_324569 | http://www.orpha.net/ORDO/Orphanet_98523 |
pontocerebellar hypoplasia type 13 | http://www.ebi.ac.uk/efo/EFO_0010636 | http://www.orpha.net/ORDO/Orphanet_98523 |
Arachnoid cyst | http://www.orpha.net/ORDO/Orphanet_2356 | http://www.orpha.net/ORDO/Orphanet_269550 |
Cranial nerve and nuclear aplasia | http://www.orpha.net/ORDO/Orphanet_98518 | http://www.orpha.net/ORDO/Orphanet_269550 |
Congenital hereditary facial paralysis with variable hearing loss | http://www.orpha.net/ORDO/Orphanet_306530 | http://www.orpha.net/ORDO/Orphanet_98518 |
Isolated hereditary congenital facial paralysis | http://www.orpha.net/ORDO/Orphanet_306527 | http://www.orpha.net/ORDO/Orphanet_98518 |
Congenital achiasma | http://www.orpha.net/ORDO/Orphanet_324353 | http://www.orpha.net/ORDO/Orphanet_98518 |
Neural tube defect | http://www.orpha.net/ORDO/Orphanet_3388 | http://www.orpha.net/ORDO/Orphanet_269550 |
Neural tube closure defect | http://www.orpha.net/ORDO/Orphanet_268357 | http://www.orpha.net/ORDO/Orphanet_3388 |
Isolated spina bifida | http://www.orpha.net/ORDO/Orphanet_823 | http://www.orpha.net/ORDO/Orphanet_268357 |
Spina bifida aperta | http://www.orpha.net/ORDO/Orphanet_268369 | http://www.orpha.net/ORDO/Orphanet_823 |
Total spina bifida aperta | http://www.orpha.net/ORDO/Orphanet_268377 | http://www.orpha.net/ORDO/Orphanet_268369 |
Cervical spina bifida aperta | http://www.orpha.net/ORDO/Orphanet_268392 | http://www.orpha.net/ORDO/Orphanet_268369 |
Lumbosacral spina bifida aperta | http://www.orpha.net/ORDO/Orphanet_268388 | http://www.orpha.net/ORDO/Orphanet_268369 |
Thoracolumbosacral spina bifida aperta | http://www.orpha.net/ORDO/Orphanet_268384 | http://www.orpha.net/ORDO/Orphanet_268369 |
Cervicothoracic spina bifida aperta | http://www.orpha.net/ORDO/Orphanet_268397 | http://www.orpha.net/ORDO/Orphanet_268369 |
Upper thoracic spina bifida aperta | http://www.orpha.net/ORDO/Orphanet_268740 | http://www.orpha.net/ORDO/Orphanet_268369 |
Spina bifida cystica | http://www.orpha.net/ORDO/Orphanet_268744 | http://www.orpha.net/ORDO/Orphanet_823 |
Myelomeningocele | http://www.orpha.net/ORDO/Orphanet_93969 | http://www.orpha.net/ORDO/Orphanet_268744 |
Cervical spina bifida cystica | http://www.orpha.net/ORDO/Orphanet_268762 | http://www.orpha.net/ORDO/Orphanet_93969 |
Cervicothoracic spina bifida cystica | http://www.orpha.net/ORDO/Orphanet_268766 | http://www.orpha.net/ORDO/Orphanet_93969 |
Upper thoracic spina bifida cystica | http://www.orpha.net/ORDO/Orphanet_268770 | http://www.orpha.net/ORDO/Orphanet_93969 |
Total spina bifida cystica | http://www.orpha.net/ORDO/Orphanet_268748 | http://www.orpha.net/ORDO/Orphanet_93969 |
Thoracolumbosacral spina bifida cystica | http://www.orpha.net/ORDO/Orphanet_268752 | http://www.orpha.net/ORDO/Orphanet_93969 |
Lumbosacral spina bifida cystica | http://www.orpha.net/ORDO/Orphanet_268758 | http://www.orpha.net/ORDO/Orphanet_93969 |
Arnold-Chiari malformation type II | http://www.orpha.net/ORDO/Orphanet_1136 | http://www.orpha.net/ORDO/Orphanet_268744 |
Myelocystocele | http://www.orpha.net/ORDO/Orphanet_268813 | http://www.orpha.net/ORDO/Orphanet_268744 |
Posterior meningocele | http://www.orpha.net/ORDO/Orphanet_268810 | http://www.orpha.net/ORDO/Orphanet_268744 |
Craniorachischisis | http://www.orpha.net/ORDO/Orphanet_63260 | http://www.orpha.net/ORDO/Orphanet_268357 |
Iniencephaly | http://www.orpha.net/ORDO/Orphanet_63259 | http://www.orpha.net/ORDO/Orphanet_268357 |
Closed iniencephaly | http://www.orpha.net/ORDO/Orphanet_268366 | http://www.orpha.net/ORDO/Orphanet_63259 |
Open iniencephaly | http://www.orpha.net/ORDO/Orphanet_268363 | http://www.orpha.net/ORDO/Orphanet_63259 |
Cephalocele | http://www.orpha.net/ORDO/Orphanet_268817 | http://www.orpha.net/ORDO/Orphanet_268357 |
Isolated encephalocele | http://www.orpha.net/ORDO/Orphanet_199647 | http://www.orpha.net/ORDO/Orphanet_268817 |
Basal encephalocele | http://www.orpha.net/ORDO/Orphanet_268829 | http://www.orpha.net/ORDO/Orphanet_199647 |
Parietal encephalocele | http://www.orpha.net/ORDO/Orphanet_268826 | http://www.orpha.net/ORDO/Orphanet_199647 |
Occipital encephalocele | http://www.orpha.net/ORDO/Orphanet_268823 | http://www.orpha.net/ORDO/Orphanet_199647 |
Nasal encephalocele | http://www.orpha.net/ORDO/Orphanet_141118 | http://www.orpha.net/ORDO/Orphanet_199647 |
Frontal encephalocele | http://www.orpha.net/ORDO/Orphanet_1931 | http://www.orpha.net/ORDO/Orphanet_199647 |
Cranial meningocele | http://www.orpha.net/ORDO/Orphanet_268820 | http://www.orpha.net/ORDO/Orphanet_268817 |
Lipoma associated with neurospinal dysraphism | http://www.orpha.net/ORDO/Orphanet_268832 | http://www.orpha.net/ORDO/Orphanet_268357 |
Lipomyelomeningocele | http://www.orpha.net/ORDO/Orphanet_268835 | http://www.orpha.net/ORDO/Orphanet_268832 |
Leptomyelolipoma | http://www.orpha.net/ORDO/Orphanet_268838 | http://www.orpha.net/ORDO/Orphanet_268832 |
Malformation of the neurenteric canal, spinal cord and column | http://www.orpha.net/ORDO/Orphanet_268843 | http://www.orpha.net/ORDO/Orphanet_3388 |
Lateral meningocele syndrome | http://www.orpha.net/ORDO/Orphanet_2789 | http://www.orpha.net/ORDO/Orphanet_268843 |
Arnold-Chiari malformation type I | http://www.orpha.net/ORDO/Orphanet_268882 | http://www.orpha.net/ORDO/Orphanet_268843 |
Primary syringomyelia | http://www.orpha.net/ORDO/Orphanet_99856 | http://www.orpha.net/ORDO/Orphanet_268843 |
Idiopathic syringomyelia | http://www.orpha.net/ORDO/Orphanet_99858 | http://www.orpha.net/ORDO/Orphanet_99856 |
Primary tethered chord syndrome | http://www.orpha.net/ORDO/Orphanet_268861 | http://www.orpha.net/ORDO/Orphanet_268843 |
Isolated amyelia | http://www.orpha.net/ORDO/Orphanet_268868 | http://www.orpha.net/ORDO/Orphanet_268843 |
Neurenteric cyst | http://www.orpha.net/ORDO/Orphanet_268865 | http://www.orpha.net/ORDO/Orphanet_268843 |
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome | http://www.orpha.net/ORDO/Orphanet_397927 | http://www.orpha.net/ORDO/Orphanet_268843 |
Diastematomyelia | http://www.orpha.net/ORDO/Orphanet_1671 | http://www.orpha.net/ORDO/Orphanet_268843 |
Genetic syndrome with a central nervous system malformation as major feature | http://www.orpha.net/ORDO/Orphanet_269564 | http://www.orpha.net/ORDO/Orphanet_183506 |
Hydrolethalus | http://www.orpha.net/ORDO/Orphanet_2189 | http://www.orpha.net/ORDO/Orphanet_269564 |
Syndrome with microcephaly as major feature | http://www.orpha.net/ORDO/Orphanet_269528 | http://www.orpha.net/ORDO/Orphanet_269564 |
Microcephaly - digital anomalies - intellectual disability | http://www.orpha.net/ORDO/Orphanet_137653 | http://www.orpha.net/ORDO/Orphanet_269528 |
Microcephaly - intellectual disability - phalangeal and neurological anomalies | http://www.orpha.net/ORDO/Orphanet_137658 | http://www.orpha.net/ORDO/Orphanet_269528 |
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly | http://www.orpha.net/ORDO/Orphanet_402364 | http://www.orpha.net/ORDO/Orphanet_269528 |
Microcephaly - brain defect - spasticity - hypernatremia | http://www.orpha.net/ORDO/Orphanet_2523 | http://www.orpha.net/ORDO/Orphanet_269528 |
Microcephaly-capillary malformation syndrome | http://www.orpha.net/ORDO/Orphanet_294016 | http://www.orpha.net/ORDO/Orphanet_269528 |
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature | http://www.orpha.net/ORDO/Orphanet_269573 | http://www.orpha.net/ORDO/Orphanet_269564 |
Corpus callosum agenesis - neuronopathy | http://www.orpha.net/ORDO/Orphanet_1496 | http://www.orpha.net/ORDO/Orphanet_269573 |
Genetic syndrome with a cerebellar malformation as major feature | http://www.orpha.net/ORDO/Orphanet_269567 | http://www.orpha.net/ORDO/Orphanet_269564 |
Genetic syndrome with a Dandy-Walker malformation as major feature | http://www.orpha.net/ORDO/Orphanet_269570 | http://www.orpha.net/ORDO/Orphanet_269567 |
Cervical hypertrichosis - peripheral neuropathy | http://www.orpha.net/ORDO/Orphanet_2218 | http://www.orpha.net/ORDO/Orphanet_269570 |
Craniosynostosis - Dandy-Walker malformation - hydrocephalus | http://www.orpha.net/ORDO/Orphanet_1538 | http://www.orpha.net/ORDO/Orphanet_269570 |
Endosteal sclerosis - cerebellar hypoplasia | http://www.orpha.net/ORDO/Orphanet_85186 | http://www.orpha.net/ORDO/Orphanet_269567 |
Cerebellar-facial-dental syndrome | http://www.ebi.ac.uk/efo/EFO_0009030 | http://www.orpha.net/ORDO/Orphanet_269567 |
Porencephaly-microcephaly-bilateral congenital cataract syndrome | http://www.orpha.net/ORDO/Orphanet_306547 | http://www.orpha.net/ORDO/Orphanet_269564 |
Progressive cerebello-cerebral atrophy | http://www.orpha.net/ORDO/Orphanet_247198 | http://www.orpha.net/ORDO/Orphanet_269564 |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | http://www.orpha.net/ORDO/Orphanet_83473 | http://www.orpha.net/ORDO/Orphanet_269564 |
Familial caudal dysgenesis | http://www.orpha.net/ORDO/Orphanet_1768 | http://www.orpha.net/ORDO/Orphanet_269564 |
Genetic neuromuscular disease | http://www.orpha.net/ORDO/Orphanet_183497 | http://www.orpha.net/ORDO/Orphanet_71859 |
Genetic motor neuron disease | http://www.orpha.net/ORDO/Orphanet_98505 | http://www.orpha.net/ORDO/Orphanet_183497 |
Juvenile primary lateral sclerosis | http://www.orpha.net/ORDO/Orphanet_247604 | http://www.orpha.net/ORDO/Orphanet_98505 |
Bulbospinal muscular atrophy | http://www.orpha.net/ORDO/Orphanet_206701 | http://www.orpha.net/ORDO/Orphanet_98505 |
Generalized bulbospinal muscular atrophy | http://www.orpha.net/ORDO/Orphanet_206710 | http://www.orpha.net/ORDO/Orphanet_206701 |
Autosomal recessive lower motor neuron disease with childhood onset | http://www.orpha.net/ORDO/Orphanet_206580 | http://www.orpha.net/ORDO/Orphanet_206710 |
Spinal atrophy - ophthalmoplegia - pyramidal syndrome | http://www.orpha.net/ORDO/Orphanet_1217 | http://www.orpha.net/ORDO/Orphanet_206710 |
Bulbospinal muscular atrophy of children | http://www.orpha.net/ORDO/Orphanet_206704 | http://www.orpha.net/ORDO/Orphanet_206701 |
Bulbospinal muscular atrophy of adult | http://www.orpha.net/ORDO/Orphanet_206707 | http://www.orpha.net/ORDO/Orphanet_206701 |
Spinal muscular atrophy associated with central nervous system anomaly | http://www.orpha.net/ORDO/Orphanet_207012 | http://www.orpha.net/ORDO/Orphanet_206701 |
Spinal muscular atrophy - Dandy-Walker malformation - cataracts | http://www.orpha.net/ORDO/Orphanet_73245 | http://www.orpha.net/ORDO/Orphanet_207012 |
Autosomal dominant proximal spinal muscular atrophy | http://www.orpha.net/ORDO/Orphanet_211037 | http://www.orpha.net/ORDO/Orphanet_98505 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy | http://www.orpha.net/ORDO/Orphanet_363447 | http://www.orpha.net/ORDO/Orphanet_211037 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | http://www.orpha.net/ORDO/Orphanet_363454 | http://www.orpha.net/ORDO/Orphanet_363447 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | http://www.orpha.net/ORDO/Orphanet_209341 | http://www.orpha.net/ORDO/Orphanet_363447 |
Lower motor neuron syndrome with late-adult onset | http://www.orpha.net/ORDO/Orphanet_276435 | http://www.orpha.net/ORDO/Orphanet_211037 |
Adult-onset proximal spinal muscular atrophy, autosomal dominant | http://www.orpha.net/ORDO/Orphanet_209335 | http://www.orpha.net/ORDO/Orphanet_211037 |
Infantile-onset ascending hereditary spastic paralysis | http://www.orpha.net/ORDO/Orphanet_293168 | http://www.orpha.net/ORDO/Orphanet_98505 |
X-linked distal arthrogryposis multiplex congenita | http://www.orpha.net/ORDO/Orphanet_1145 | http://www.orpha.net/ORDO/Orphanet_98505 |
Scapuloperoneal amyotrophy | http://www.orpha.net/ORDO/Orphanet_85146 | http://www.orpha.net/ORDO/Orphanet_98505 |
Genetic skeletal muscle disease | http://www.orpha.net/ORDO/Orphanet_206634 | http://www.orpha.net/ORDO/Orphanet_183497 |
Myopathy due to calsequestrin and SERCA1 protein overload | http://www.orpha.net/ORDO/Orphanet_88635 | http://www.orpha.net/ORDO/Orphanet_206634 |
Myotonic syndrome | http://www.orpha.net/ORDO/Orphanet_206970 | http://www.orpha.net/ORDO/Orphanet_206634 |
Congenital myotonia | http://www.orpha.net/ORDO/Orphanet_206973 | http://www.orpha.net/ORDO/Orphanet_206970 |
Myotonic dystrophy | http://www.orpha.net/ORDO/Orphanet_206647 | http://www.orpha.net/ORDO/Orphanet_206970 |
Potassium-aggravated myotonia | http://www.orpha.net/ORDO/Orphanet_612 | http://www.orpha.net/ORDO/Orphanet_206970 |
Acetazolamide-responsive myotonia | http://www.orpha.net/ORDO/Orphanet_99736 | http://www.orpha.net/ORDO/Orphanet_612 |
Myotonia fluctuans | http://www.orpha.net/ORDO/Orphanet_99734 | http://www.orpha.net/ORDO/Orphanet_612 |
Myotonia permanens | http://www.orpha.net/ORDO/Orphanet_99735 | http://www.orpha.net/ORDO/Orphanet_612 |
Paramyotonia congenita of Von Eulenburg | http://www.orpha.net/ORDO/Orphanet_684 | http://www.orpha.net/ORDO/Orphanet_206970 |
Non-dystrophic myopathy | http://www.orpha.net/ORDO/Orphanet_206656 | http://www.orpha.net/ORDO/Orphanet_206634 |
Non-dystrophic myopathy with collagen 6 anomaly | http://www.orpha.net/ORDO/Orphanet_206659 | http://www.orpha.net/ORDO/Orphanet_206656 |
Myosclerosis | http://www.orpha.net/ORDO/Orphanet_289380 | http://www.orpha.net/ORDO/Orphanet_206659 |
Metabolic myopathy | http://www.orpha.net/ORDO/Orphanet_98486 | http://www.orpha.net/ORDO/Orphanet_206656 |
Muscular glycogenosis | http://www.orpha.net/ORDO/Orphanet_206959 | http://www.orpha.net/ORDO/Orphanet_98486 |
Muscular lipidosis | http://www.orpha.net/ORDO/Orphanet_206953 | http://www.orpha.net/ORDO/Orphanet_98486 |
Mitochondrial myopathy | http://www.orpha.net/ORDO/Orphanet_206966 | http://www.orpha.net/ORDO/Orphanet_206953 |
Metabolic myopathy due to lactate transporter defect | http://www.orpha.net/ORDO/Orphanet_171690 | http://www.orpha.net/ORDO/Orphanet_98486 |
Inclusion myopathy | http://www.orpha.net/ORDO/Orphanet_206662 | http://www.orpha.net/ORDO/Orphanet_206656 |
Desmin-related myopathy with Mallory body-like inclusions | http://www.orpha.net/ORDO/Orphanet_84132 | http://www.orpha.net/ORDO/Orphanet_206662 |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | http://www.orpha.net/ORDO/Orphanet_52430 | http://www.orpha.net/ORDO/Orphanet_206662 |
Hereditary proximal myopathy with early respiratory failure | http://www.orpha.net/ORDO/Orphanet_178464 | http://www.orpha.net/ORDO/Orphanet_206662 |
Hereditary inclusion body myopathy type 4 | http://www.orpha.net/ORDO/Orphanet_324381 | http://www.orpha.net/ORDO/Orphanet_206662 |
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia | http://www.orpha.net/ORDO/Orphanet_79091 | http://www.orpha.net/ORDO/Orphanet_206662 |
Hereditary continuous muscle fiber activity | http://www.orpha.net/ORDO/Orphanet_972 | http://www.orpha.net/ORDO/Orphanet_206656 |
Myofibrillar myopathy | http://www.orpha.net/ORDO/Orphanet_593 | http://www.orpha.net/ORDO/Orphanet_206656 |
Distal myotilinopathy | http://www.orpha.net/ORDO/Orphanet_98911 | http://www.orpha.net/ORDO/Orphanet_593 |
Late-onset distal myopathy, Markesbery-Griggs type | http://www.orpha.net/ORDO/Orphanet_98912 | http://www.orpha.net/ORDO/Orphanet_593 |
Alpha-crystallinopathy | http://www.orpha.net/ORDO/Orphanet_98910 | http://www.orpha.net/ORDO/Orphanet_593 |
Fatal infantile hypertonic myofibrillar myopathy | http://www.orpha.net/ORDO/Orphanet_280553 | http://www.orpha.net/ORDO/Orphanet_98910 |
Alpha-B crystallin-related late-onset distal myopathy | http://www.orpha.net/ORDO/Orphanet_399058 | http://www.orpha.net/ORDO/Orphanet_98910 |
Spheroid body myopathy | http://www.orpha.net/ORDO/Orphanet_268129 | http://www.orpha.net/ORDO/Orphanet_593 |
Muscle filaminopathy | http://www.orpha.net/ORDO/Orphanet_171445 | http://www.orpha.net/ORDO/Orphanet_593 |
myofibrillar myopathy 9 with early respiratory failure | http://www.ebi.ac.uk/efo/EFO_0010828 | http://www.orpha.net/ORDO/Orphanet_593 |
Congenital myopathy | http://www.orpha.net/ORDO/Orphanet_97245 | http://www.orpha.net/ORDO/Orphanet_206656 |
Congenital fiber-type disproportion myopathy | http://www.orpha.net/ORDO/Orphanet_2020 | http://www.orpha.net/ORDO/Orphanet_97245 |
Congenital myopathy with excess of thin filaments | http://www.orpha.net/ORDO/Orphanet_98904 | http://www.orpha.net/ORDO/Orphanet_97245 |
Tubular aggregate myopathy | http://www.orpha.net/ORDO/Orphanet_2593 | http://www.orpha.net/ORDO/Orphanet_97245 |
Congenital myopathy with cores | http://www.orpha.net/ORDO/Orphanet_172976 | http://www.orpha.net/ORDO/Orphanet_97245 |
Central core disease | http://www.orpha.net/ORDO/Orphanet_597 | http://www.orpha.net/ORDO/Orphanet_172976 |
Multiminicore myopathy | http://www.orpha.net/ORDO/Orphanet_598 | http://www.orpha.net/ORDO/Orphanet_172976 |
Congenital multicore myopathy with external ophthalmoplegia | http://www.orpha.net/ORDO/Orphanet_98905 | http://www.orpha.net/ORDO/Orphanet_598 |
Antenatal multiminicore disease with arthrogryposis multiplex congenita | http://www.orpha.net/ORDO/Orphanet_178148 | http://www.orpha.net/ORDO/Orphanet_598 |
Moderate multiminicore disease with hand involvement | http://www.orpha.net/ORDO/Orphanet_178145 | http://www.orpha.net/ORDO/Orphanet_598 |
Classic multiminicore myopathy | http://www.orpha.net/ORDO/Orphanet_324604 | http://www.orpha.net/ORDO/Orphanet_598 |
Congenital myopathy with internal nuclei and atypical cores | http://www.orpha.net/ORDO/Orphanet_319160 | http://www.orpha.net/ORDO/Orphanet_172976 |
Fetal akinesia-cerebral and retinal hemorrhage syndrome | http://www.orpha.net/ORDO/Orphanet_363409 | http://www.orpha.net/ORDO/Orphanet_97245 |
Native American myopathy | http://www.orpha.net/ORDO/Orphanet_168572 | http://www.orpha.net/ORDO/Orphanet_97245 |
Nemaline myopathy | http://www.orpha.net/ORDO/Orphanet_607 | http://www.orpha.net/ORDO/Orphanet_97245 |
Amish nemaline myopathy | http://www.orpha.net/ORDO/Orphanet_98902 | http://www.orpha.net/ORDO/Orphanet_607 |
Childhood-onset nemaline myopathy | http://www.orpha.net/ORDO/Orphanet_171439 | http://www.orpha.net/ORDO/Orphanet_607 |
Typical nemaline myopathy | http://www.orpha.net/ORDO/Orphanet_171436 | http://www.orpha.net/ORDO/Orphanet_607 |
Intermediate nemaline myopathy | http://www.orpha.net/ORDO/Orphanet_171433 | http://www.orpha.net/ORDO/Orphanet_607 |
Severe congenital nemaline myopathy | http://www.orpha.net/ORDO/Orphanet_171430 | http://www.orpha.net/ORDO/Orphanet_607 |
Adult-onset nemaline myopathy | http://www.orpha.net/ORDO/Orphanet_171442 | http://www.orpha.net/ORDO/Orphanet_607 |
autosomal recessive nemaline myopathy | http://www.ebi.ac.uk/efo/EFO_0020036 | http://www.orpha.net/ORDO/Orphanet_607 |
Myopathy with hexagonally cross-linked tubular arrays | http://www.orpha.net/ORDO/Orphanet_171889 | http://www.orpha.net/ORDO/Orphanet_97245 |
Cylindrical spirals myopathy | http://www.orpha.net/ORDO/Orphanet_171886 | http://www.orpha.net/ORDO/Orphanet_97245 |
Cap myopathy | http://www.orpha.net/ORDO/Orphanet_171881 | http://www.orpha.net/ORDO/Orphanet_97245 |
Zebra body myopathy | http://www.orpha.net/ORDO/Orphanet_97240 | http://www.orpha.net/ORDO/Orphanet_97245 |
Reducing body myopathy | http://www.orpha.net/ORDO/Orphanet_97239 | http://www.orpha.net/ORDO/Orphanet_97245 |
Fingerprint body myopathy | http://www.orpha.net/ORDO/Orphanet_97232 | http://www.orpha.net/ORDO/Orphanet_97245 |
Hyaline body myopathy | http://www.orpha.net/ORDO/Orphanet_53698 | http://www.orpha.net/ORDO/Orphanet_97245 |
Benign Samaritan congenital myopathy | http://www.orpha.net/ORDO/Orphanet_324581 | http://www.orpha.net/ORDO/Orphanet_97245 |
Congenital lethal myopathy, Compton-North type | http://www.orpha.net/ORDO/Orphanet_210163 | http://www.orpha.net/ORDO/Orphanet_97245 |
myopathy, congenital, progressive, with scoliosis | http://www.ebi.ac.uk/efo/EFO_0010565 | http://www.orpha.net/ORDO/Orphanet_97245 |
Rippling muscle disease | http://www.orpha.net/ORDO/Orphanet_97238 | http://www.orpha.net/ORDO/Orphanet_206656 |
Muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_98473 | http://www.orpha.net/ORDO/Orphanet_206634 |
Progressive muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_206644 | http://www.orpha.net/ORDO/Orphanet_98473 |
Limb-girdle muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_263 | http://www.orpha.net/ORDO/Orphanet_206644 |
limb-girdle muscular dystrophy-dystroglycanopathy, type c1 | http://www.ebi.ac.uk/efo/EFO_0009145 | http://www.orpha.net/ORDO/Orphanet_263 |
Autosomal recessive limb-girdle muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_102015 | http://www.orpha.net/ORDO/Orphanet_263 |
Autosomal recessive limb-girdle muscular dystrophy type 2J | http://www.orpha.net/ORDO/Orphanet_140922 | http://www.orpha.net/ORDO/Orphanet_102015 |
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency | http://www.orpha.net/ORDO/Orphanet_363543 | http://www.orpha.net/ORDO/Orphanet_102015 |
Autosomal recessive limb-girdle muscular dystrophy type 2L | http://www.orpha.net/ORDO/Orphanet_206549 | http://www.orpha.net/ORDO/Orphanet_102015 |
Autosomal recessive limb-girdle muscular dystrophy type 2G | http://www.orpha.net/ORDO/Orphanet_34514 | http://www.orpha.net/ORDO/Orphanet_102015 |
Autosomal recessive limb-girdle muscular dystrophy type 2S | http://www.orpha.net/ORDO/Orphanet_369840 | http://www.orpha.net/ORDO/Orphanet_102015 |
Autosomal recessive limb-girdle muscular dystrophy type 2A | http://www.orpha.net/ORDO/Orphanet_267 | http://www.orpha.net/ORDO/Orphanet_102015 |
Autosomal recessive limb-girdle muscular dystrophy type 2B | http://www.orpha.net/ORDO/Orphanet_268 | http://www.orpha.net/ORDO/Orphanet_102015 |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | http://www.orpha.net/ORDO/Orphanet_254361 | http://www.orpha.net/ORDO/Orphanet_102015 |
Autosomal recessive limb-girdle muscular dystrophy type 2H | http://www.orpha.net/ORDO/Orphanet_1878 | http://www.orpha.net/ORDO/Orphanet_102015 |
Autosomal dominant limb-girdle muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_102014 | http://www.orpha.net/ORDO/Orphanet_263 |
Autosomal dominant limb-girdle muscular dystrophy type 1D | http://www.orpha.net/ORDO/Orphanet_34516 | http://www.orpha.net/ORDO/Orphanet_102014 |
Autosomal dominant limb-girdle muscular dystrophy type 1E | http://www.orpha.net/ORDO/Orphanet_34517 | http://www.orpha.net/ORDO/Orphanet_102014 |
Autosomal dominant limb-girdle muscular dystrophy type 1C | http://www.orpha.net/ORDO/Orphanet_265 | http://www.orpha.net/ORDO/Orphanet_102014 |
Autosomal dominant limb-girdle muscular dystrophy type 1F | http://www.orpha.net/ORDO/Orphanet_55595 | http://www.orpha.net/ORDO/Orphanet_102014 |
Autosomal dominant limb-girdle muscular dystrophy type 1G | http://www.orpha.net/ORDO/Orphanet_55596 | http://www.orpha.net/ORDO/Orphanet_102014 |
Autosomal dominant limb-girdle muscular dystrophy type 1H | http://www.orpha.net/ORDO/Orphanet_238755 | http://www.orpha.net/ORDO/Orphanet_102014 |
Facioscapulohumeral dystrophy | http://www.orpha.net/ORDO/Orphanet_269 | http://www.orpha.net/ORDO/Orphanet_206644 |
Congenital muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_97242 | http://www.orpha.net/ORDO/Orphanet_98473 |
Congenital muscular dystrophy type 1B | http://www.orpha.net/ORDO/Orphanet_98893 | http://www.orpha.net/ORDO/Orphanet_97242 |
Congenital muscular dystrophy with integrin alpha-7 deficiency | http://www.orpha.net/ORDO/Orphanet_34520 | http://www.orpha.net/ORDO/Orphanet_97242 |
Congenital muscular dystrophy due to dystroglycanopathy | http://www.orpha.net/ORDO/Orphanet_370953 | http://www.orpha.net/ORDO/Orphanet_97242 |
Congenital muscular dystrophy type 1A | http://www.orpha.net/ORDO/Orphanet_258 | http://www.orpha.net/ORDO/Orphanet_97242 |
Arthrogryposis due to muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_1155 | http://www.orpha.net/ORDO/Orphanet_97242 |
Rigid spine syndrome | http://www.orpha.net/ORDO/Orphanet_97244 | http://www.orpha.net/ORDO/Orphanet_97242 |
Congenital muscular dystrophy, Ullrich type | http://www.orpha.net/ORDO/Orphanet_75840 | http://www.orpha.net/ORDO/Orphanet_97242 |
laminin alpha 2-related dystrophy | http://www.ebi.ac.uk/efo/EFO_0009138 | http://www.orpha.net/ORDO/Orphanet_97242 |
Congenital muscular dystrophy due to LMNA mutation | http://www.orpha.net/ORDO/Orphanet_157973 | http://www.orpha.net/ORDO/Orphanet_97242 |
Congenital muscular dystrophy with hyperlaxity | http://www.orpha.net/ORDO/Orphanet_371007 | http://www.orpha.net/ORDO/Orphanet_97242 |
Congenital myopathy, Paradas type | http://www.orpha.net/ORDO/Orphanet_199329 | http://www.orpha.net/ORDO/Orphanet_97242 |
Autosomal recessive myogenic arthrogryposis multiplex congenita | http://www.orpha.net/ORDO/Orphanet_319332 | http://www.orpha.net/ORDO/Orphanet_97242 |
Congenital muscular dystrophy - infantile cataract - hypogonadism | http://www.orpha.net/ORDO/Orphanet_1875 | http://www.orpha.net/ORDO/Orphanet_97242 |
Distal myopathy | http://www.orpha.net/ORDO/Orphanet_599 | http://www.orpha.net/ORDO/Orphanet_206634 |
Autosomal recessive distal myopathy | http://www.orpha.net/ORDO/Orphanet_206653 | http://www.orpha.net/ORDO/Orphanet_599 |
Nebulin-related early-onset distal myopathy | http://www.orpha.net/ORDO/Orphanet_399103 | http://www.orpha.net/ORDO/Orphanet_206653 |
Distal anoctaminopathy | http://www.orpha.net/ORDO/Orphanet_399096 | http://www.orpha.net/ORDO/Orphanet_206653 |
Distal myopathy with anterior tibial onset | http://www.orpha.net/ORDO/Orphanet_178400 | http://www.orpha.net/ORDO/Orphanet_206653 |
Autosomal dominant distal myopathy | http://www.orpha.net/ORDO/Orphanet_206650 | http://www.orpha.net/ORDO/Orphanet_599 |
Laing early-onset distal myopathy | http://www.orpha.net/ORDO/Orphanet_59135 | http://www.orpha.net/ORDO/Orphanet_206650 |
KLHL9-related childhood-onset distal myopathy | http://www.orpha.net/ORDO/Orphanet_399081 | http://www.orpha.net/ORDO/Orphanet_206650 |
Distal myopathy with vocal cord weakness | http://www.orpha.net/ORDO/Orphanet_600 | http://www.orpha.net/ORDO/Orphanet_206650 |
Distal myopathy, Welander type | http://www.orpha.net/ORDO/Orphanet_603 | http://www.orpha.net/ORDO/Orphanet_206650 |
Tibial muscular dystrophy | http://www.orpha.net/ORDO/Orphanet_609 | http://www.orpha.net/ORDO/Orphanet_206650 |
Adult-onset distal myopathy due to VCP mutation | http://www.orpha.net/ORDO/Orphanet_329478 | http://www.orpha.net/ORDO/Orphanet_206650 |
Distal myopathy with posterior leg and anterior hand involvement | http://www.orpha.net/ORDO/Orphanet_63273 | http://www.orpha.net/ORDO/Orphanet_206650 |
Genetic periodic paralysis | http://www.orpha.net/ORDO/Orphanet_371433 | http://www.orpha.net/ORDO/Orphanet_206634 |
Hypokalemic periodic paralysis | http://www.orpha.net/ORDO/Orphanet_681 | http://www.orpha.net/ORDO/Orphanet_371433 |
Hyperkalemic periodic paralysis | http://www.orpha.net/ORDO/Orphanet_682 | http://www.orpha.net/ORDO/Orphanet_371433 |
Periodic paralysis with transient compartment-like syndrome | http://www.orpha.net/ORDO/Orphanet_397755 | http://www.orpha.net/ORDO/Orphanet_371433 |
Muscular dystrophy - white matter spongiosis | http://www.orpha.net/ORDO/Orphanet_1877 | http://www.orpha.net/ORDO/Orphanet_206634 |
Genetic neuromuscular junction disease | http://www.orpha.net/ORDO/Orphanet_98495 | http://www.orpha.net/ORDO/Orphanet_183497 |
Genetic muscular channelopathy | http://www.orpha.net/ORDO/Orphanet_352298 | http://www.orpha.net/ORDO/Orphanet_183497 |
Malignant hyperthermia | http://www.orpha.net/ORDO/Orphanet_423 | http://www.orpha.net/ORDO/Orphanet_352298 |
malignant hyperthermia, susceptibility to, 1 | http://www.ebi.ac.uk/efo/EFO_0009071 | http://www.orpha.net/ORDO/Orphanet_423 |
Qualitative or quantitative protein defects in neuromuscular diseases | http://www.orpha.net/ORDO/Orphanet_207049 | http://www.orpha.net/ORDO/Orphanet_183497 |
Qualitative or quantitative defects of tropomyosin | http://www.orpha.net/ORDO/Orphanet_284790 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of troponin | http://www.orpha.net/ORDO/Orphanet_284786 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of dysferlin | http://www.orpha.net/ORDO/Orphanet_207073 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of caveolin-3 | http://www.orpha.net/ORDO/Orphanet_207078 | http://www.orpha.net/ORDO/Orphanet_207049 |
Isolated asymptomatic elevation of creatine phosphokinase | http://www.orpha.net/ORDO/Orphanet_206599 | http://www.orpha.net/ORDO/Orphanet_207078 |
Qualitative or quantitative defects of sarcoglycan | http://www.orpha.net/ORDO/Orphanet_207052 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of delta-sarcoglycan | http://www.orpha.net/ORDO/Orphanet_207070 | http://www.orpha.net/ORDO/Orphanet_207052 |
Qualitative or quantitative defects of beta-sarcoglycan | http://www.orpha.net/ORDO/Orphanet_207063 | http://www.orpha.net/ORDO/Orphanet_207052 |
Qualitative or quantitative defects of gamma-sarcoglycan | http://www.orpha.net/ORDO/Orphanet_207067 | http://www.orpha.net/ORDO/Orphanet_207052 |
Qualitative or quantitative defects of alpha-sarcoglycan | http://www.orpha.net/ORDO/Orphanet_207060 | http://www.orpha.net/ORDO/Orphanet_207052 |
Qualitative or quantitative defects of merosin | http://www.orpha.net/ORDO/Orphanet_207094 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of integrin alpha-7 | http://www.orpha.net/ORDO/Orphanet_207098 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of collagen 6 | http://www.orpha.net/ORDO/Orphanet_207090 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of dystrophin | http://www.orpha.net/ORDO/Orphanet_207085 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of calpain | http://www.orpha.net/ORDO/Orphanet_207104 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of TRIM32 | http://www.orpha.net/ORDO/Orphanet_207107 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of myotubularin | http://www.orpha.net/ORDO/Orphanet_207110 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of perlecan | http://www.orpha.net/ORDO/Orphanet_207101 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of alpha-dystroglycan | http://www.orpha.net/ORDO/Orphanet_371024 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan | http://www.orpha.net/ORDO/Orphanet_207113 | http://www.orpha.net/ORDO/Orphanet_371024 |
Qualitative or quantitative defects of FKRP | http://www.orpha.net/ORDO/Orphanet_207119 | http://www.orpha.net/ORDO/Orphanet_207113 |
Qualitative or quantitative defects of fukutin | http://www.orpha.net/ORDO/Orphanet_207122 | http://www.orpha.net/ORDO/Orphanet_207113 |
Qualitative or quantitative defects of protein glycosyltransferase-like | http://www.orpha.net/ORDO/Orphanet_209027 | http://www.orpha.net/ORDO/Orphanet_207113 |
Qualitative or quantitative defects of protein O-mannosyltransferase 1 | http://www.orpha.net/ORDO/Orphanet_209030 | http://www.orpha.net/ORDO/Orphanet_207113 |
Qualitative or quantitative defects of protein O-mannosyltransferase 2 | http://www.orpha.net/ORDO/Orphanet_209033 | http://www.orpha.net/ORDO/Orphanet_207113 |
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase | http://www.orpha.net/ORDO/Orphanet_209024 | http://www.orpha.net/ORDO/Orphanet_207113 |
Primary qualitative or quantitative defects of alpha-dystroglycan | http://www.orpha.net/ORDO/Orphanet_371040 | http://www.orpha.net/ORDO/Orphanet_371024 |
Qualitative or quantitative defects of plectin | http://www.orpha.net/ORDO/Orphanet_209196 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of protein SERCA1 | http://www.orpha.net/ORDO/Orphanet_209199 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of selenoprotein N1 | http://www.orpha.net/ORDO/Orphanet_209193 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) | http://www.orpha.net/ORDO/Orphanet_209185 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of emerin | http://www.orpha.net/ORDO/Orphanet_209188 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of nebulin | http://www.orpha.net/ORDO/Orphanet_209182 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of myotilin | http://www.orpha.net/ORDO/Orphanet_209224 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - | http://www.orpha.net/ORDO/Orphanet_209203 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of titin | http://www.orpha.net/ORDO/Orphanet_209053 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of telethonin | http://www.orpha.net/ORDO/Orphanet_209056 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of alpha-actin | http://www.orpha.net/ORDO/Orphanet_209059 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of myofibrillar proteins | http://www.orpha.net/ORDO/Orphanet_209038 | http://www.orpha.net/ORDO/Orphanet_207049 |
Qualitative or quantitative defects of protein ZASP | http://www.orpha.net/ORDO/Orphanet_209050 | http://www.orpha.net/ORDO/Orphanet_209038 |
Qualitative or quantitative defects of desmin | http://www.orpha.net/ORDO/Orphanet_209041 | http://www.orpha.net/ORDO/Orphanet_209038 |
Qualitative or quantitative defects of alphaB-cristallin | http://www.orpha.net/ORDO/Orphanet_209044 | http://www.orpha.net/ORDO/Orphanet_209038 |
Qualitative or quantitative defects of filamin C | http://www.orpha.net/ORDO/Orphanet_209047 | http://www.orpha.net/ORDO/Orphanet_209038 |
Inherited congenital spastic tetraplegia | http://www.orpha.net/ORDO/Orphanet_210141 | http://www.orpha.net/ORDO/Orphanet_71859 |
rasopathy | http://www.ebi.ac.uk/efo/EFO_1001502 | http://www.ebi.ac.uk/efo/EFO_0000508 |
CBL-related disorder | http://purl.obolibrary.org/obo/MONDO_0013308 | http://www.ebi.ac.uk/efo/EFO_1001502 |
bladder diverticulum | http://purl.obolibrary.org/obo/MONDO_0007197 | http://www.ebi.ac.uk/efo/EFO_0000508 |
immunoskeletal dysplasia with neurodevelopmental abnormalities | http://purl.obolibrary.org/obo/MONDO_0044312 | http://www.ebi.ac.uk/efo/EFO_0000508 |
congenital heart defects and ectodermal dysplasia | http://purl.obolibrary.org/obo/MONDO_0044303 | http://www.ebi.ac.uk/efo/EFO_0000508 |
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | http://purl.obolibrary.org/obo/MONDO_0044302 | http://www.ebi.ac.uk/efo/EFO_0000508 |
thrombocytopenia, anemia, and myelofibrosis | http://purl.obolibrary.org/obo/MONDO_0044316 | http://www.ebi.ac.uk/efo/EFO_0000508 |
chromosome-defective micronuclei | http://www.ebi.ac.uk/efo/EFO_1001778 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Ramon syndrome | http://purl.obolibrary.org/obo/MONDO_0009954 | http://www.ebi.ac.uk/efo/EFO_0000508 |
inherited susceptibility to asthma | http://purl.obolibrary.org/obo/MONDO_0010940 | http://www.ebi.ac.uk/efo/EFO_0000508 |
pyropoikilocytosis, hereditary | http://purl.obolibrary.org/obo/MONDO_0009948 | http://www.ebi.ac.uk/efo/EFO_0000508 |
primary failure of tooth eruption | http://purl.obolibrary.org/obo/MONDO_0007434 | http://www.ebi.ac.uk/efo/EFO_0000508 |
dentin dysplasia-sclerotic bones syndrome | http://purl.obolibrary.org/obo/MONDO_0007438 | http://www.ebi.ac.uk/efo/EFO_0000508 |
exostoses-anetodermia-brachydactyly type E syndrome | http://purl.obolibrary.org/obo/MONDO_0007584 | http://www.ebi.ac.uk/efo/EFO_0000508 |
ear malformation | http://purl.obolibrary.org/obo/MONDO_0007500 | http://www.ebi.ac.uk/efo/EFO_0000508 |
glaucoma, primary closed-angle | http://purl.obolibrary.org/obo/MONDO_0030038 | http://www.ebi.ac.uk/efo/EFO_0000508 |
proteinuria, chronic benign | http://purl.obolibrary.org/obo/MONDO_0030042 | http://www.ebi.ac.uk/efo/EFO_0000508 |
microcephaly, developmental delay, and brittle hair syndrome | http://purl.obolibrary.org/obo/MONDO_0030047 | http://www.ebi.ac.uk/efo/EFO_0000508 |
harderoporphyria | http://purl.obolibrary.org/obo/MONDO_0030048 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Liberfarb syndrome | http://purl.obolibrary.org/obo/MONDO_0030045 | http://www.ebi.ac.uk/efo/EFO_0000508 |
46,xx sex reversal 5 | http://purl.obolibrary.org/obo/MONDO_0030049 | http://www.ebi.ac.uk/efo/EFO_0000508 |
sorbitol dehydrogenase deficiency with peripheral neuropathy | http://purl.obolibrary.org/obo/MONDO_0030055 | http://www.ebi.ac.uk/efo/EFO_0000508 |
neurodevelopmental, jaw, eye, and digital syndrome | http://purl.obolibrary.org/obo/MONDO_0030057 | http://www.ebi.ac.uk/efo/EFO_0000508 |
intellectual developmental disorder with autistic features and language delay, with or without seizures | http://purl.obolibrary.org/obo/MONDO_0030051 | http://www.ebi.ac.uk/efo/EFO_0000508 |
encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | http://purl.obolibrary.org/obo/MONDO_0032681 | http://www.ebi.ac.uk/efo/EFO_0000508 |
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | http://purl.obolibrary.org/obo/MONDO_0032684 | http://www.ebi.ac.uk/efo/EFO_0000508 |
polymicrogyria with or without vascular-type ehlers-danlos syndrome | http://purl.obolibrary.org/obo/MONDO_0032688 | http://www.ebi.ac.uk/efo/EFO_0000508 |
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | http://purl.obolibrary.org/obo/MONDO_0032687 | http://www.ebi.ac.uk/efo/EFO_0000508 |
skeletal dysplasia, mild, with joint laxity and advanced bone age | http://purl.obolibrary.org/obo/MONDO_0030029 | http://www.ebi.ac.uk/efo/EFO_0000508 |
neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | http://purl.obolibrary.org/obo/MONDO_0030028 | http://www.ebi.ac.uk/efo/EFO_0000508 |
seizures, early-onset, with neurodegeneration and brain calcifications | http://purl.obolibrary.org/obo/MONDO_0030033 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Nizon-Isidor syndrome | http://purl.obolibrary.org/obo/MONDO_0030030 | http://www.ebi.ac.uk/efo/EFO_0000508 |
leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome | http://purl.obolibrary.org/obo/MONDO_0030036 | http://www.ebi.ac.uk/efo/EFO_0000508 |
leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | http://purl.obolibrary.org/obo/MONDO_0030035 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Grant syndrome | http://purl.obolibrary.org/obo/MONDO_0007683 | http://www.ebi.ac.uk/efo/EFO_0000508 |
fibronectin glomerulopathy | http://purl.obolibrary.org/obo/MONDO_0007671 | http://www.ebi.ac.uk/efo/EFO_0000508 |
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | http://purl.obolibrary.org/obo/MONDO_0020647 | http://www.ebi.ac.uk/efo/EFO_0000508 |
genochondromatosis | http://purl.obolibrary.org/obo/MONDO_0007653 | http://www.ebi.ac.uk/efo/EFO_0000508 |
genochondromatosis type 1 | http://purl.obolibrary.org/obo/MONDO_0019411 | http://purl.obolibrary.org/obo/MONDO_0007653 |
genochondromatosis type 2 | http://purl.obolibrary.org/obo/MONDO_0019680 | http://purl.obolibrary.org/obo/MONDO_0007653 |
familial thoracic aortic aneurysm and aortic dissection | http://purl.obolibrary.org/obo/MONDO_0019625 | http://www.ebi.ac.uk/efo/EFO_0000508 |
sex-linked disease | http://purl.obolibrary.org/obo/MONDO_0020606 | http://www.ebi.ac.uk/efo/EFO_0000508 |
X-linked disease | http://purl.obolibrary.org/obo/MONDO_0000425 | http://purl.obolibrary.org/obo/MONDO_0020606 |
X-linked dominant disease | http://purl.obolibrary.org/obo/MONDO_0020604 | http://purl.obolibrary.org/obo/MONDO_0000425 |
X-linked dominant hypophosphatemic rickets | http://purl.obolibrary.org/obo/MONDO_0010619 | http://purl.obolibrary.org/obo/MONDO_0020604 |
X-linked recessive disease | http://purl.obolibrary.org/obo/MONDO_0020605 | http://purl.obolibrary.org/obo/MONDO_0000425 |
X-linked hypophosphatemic rickets | http://purl.obolibrary.org/obo/MONDO_0020720 | http://purl.obolibrary.org/obo/MONDO_0000425 |
fibrodysplasia ossificans progressiva | http://purl.obolibrary.org/obo/MONDO_0007606 | http://www.ebi.ac.uk/efo/EFO_0000508 |
peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | http://purl.obolibrary.org/obo/MONDO_0029131 | http://www.ebi.ac.uk/efo/EFO_0000508 |
congenital hypotonia, epilepsy, developmental delay, and digital anomalies | http://purl.obolibrary.org/obo/MONDO_0032781 | http://www.ebi.ac.uk/efo/EFO_0000508 |
intellectual developmental disorder with hypertelorism and distinctive facies | http://purl.obolibrary.org/obo/MONDO_0029143 | http://www.ebi.ac.uk/efo/EFO_0000508 |
extraoral halitosis due to methanethiol oxidase deficiency | http://purl.obolibrary.org/obo/MONDO_0029144 | http://www.ebi.ac.uk/efo/EFO_0000508 |
genetic infertility | http://purl.obolibrary.org/obo/MONDO_0017143 | http://www.ebi.ac.uk/efo/EFO_0000508 |
autosomal recessive polycystic kidney disease | http://purl.obolibrary.org/obo/MONDO_0009889 | http://purl.obolibrary.org/obo/MONDO_0017143 |
inherited oocyte maturation defect | http://purl.obolibrary.org/obo/MONDO_0014769 | http://purl.obolibrary.org/obo/MONDO_0017143 |
female infertility due to zona pellucida defect | http://purl.obolibrary.org/obo/MONDO_0014342 | http://purl.obolibrary.org/obo/MONDO_0014769 |
oocyte maturation defect 8 | http://purl.obolibrary.org/obo/MONDO_0033564 | http://purl.obolibrary.org/obo/MONDO_0014769 |
oocyte maturation defect 9 | http://purl.obolibrary.org/obo/MONDO_0033565 | http://purl.obolibrary.org/obo/MONDO_0014769 |
azoospermia | http://www.ebi.ac.uk/efo/EFO_0000279 | http://purl.obolibrary.org/obo/MONDO_0017143 |
spermatogenic failure 29 | http://purl.obolibrary.org/obo/MONDO_0054733 | http://www.ebi.ac.uk/efo/EFO_0000279 |
spermatogenic failure 28 | http://purl.obolibrary.org/obo/MONDO_0054732 | http://www.ebi.ac.uk/efo/EFO_0000279 |
spermatogenic failure 1 | http://purl.obolibrary.org/obo/MONDO_0009776 | http://www.ebi.ac.uk/efo/EFO_0000279 |
Sertoli Cell-Only Syndrome | http://www.ebi.ac.uk/efo/EFO_1001422 | http://www.ebi.ac.uk/efo/EFO_0000279 |
spermatogenic failure 43 | http://purl.obolibrary.org/obo/MONDO_0032898 | http://www.ebi.ac.uk/efo/EFO_0000279 |
spermatogenic failure 42 | http://purl.obolibrary.org/obo/MONDO_0032896 | http://www.ebi.ac.uk/efo/EFO_0000279 |
spermatogenic failure 31 | http://purl.obolibrary.org/obo/MONDO_0020852 | http://www.ebi.ac.uk/efo/EFO_0000279 |
spermatogenic failure 5 | http://purl.obolibrary.org/obo/MONDO_0009461 | http://www.ebi.ac.uk/efo/EFO_0000279 |
spermatogenic failure 44 | http://purl.obolibrary.org/obo/MONDO_0033622 | http://www.ebi.ac.uk/efo/EFO_0000279 |
developmental delay with or without dysmorphic facies and autism | http://purl.obolibrary.org/obo/MONDO_0032760 | http://www.ebi.ac.uk/efo/EFO_0000508 |
developmental delay with variable intellectual impairment and behavioral abnormalities | http://purl.obolibrary.org/obo/MONDO_0032745 | http://www.ebi.ac.uk/efo/EFO_0000508 |
autosomal dominant osteosclerosis, Worth type | http://purl.obolibrary.org/obo/MONDO_0007764 | http://www.ebi.ac.uk/efo/EFO_0000508 |
familial cystic renal disease | http://purl.obolibrary.org/obo/MONDO_0019741 | http://www.ebi.ac.uk/efo/EFO_0000508 |
autosomal dominant medullary cystic kidney disease with or without hyperuricemia | http://purl.obolibrary.org/obo/MONDO_0008264 | http://purl.obolibrary.org/obo/MONDO_0019741 |
tubulointerstitial kidney disease, autosomal dominant, 2 | http://purl.obolibrary.org/obo/MONDO_0020726 | http://purl.obolibrary.org/obo/MONDO_0008264 |
adult familial nephronophthisis-spastic quadriparesia syndrome | http://purl.obolibrary.org/obo/MONDO_0017044 | http://purl.obolibrary.org/obo/MONDO_0019741 |
polycystic kidney disease | http://purl.obolibrary.org/obo/MONDO_0020642 | http://purl.obolibrary.org/obo/MONDO_0019741 |
ventriculomegaly-cystic kidney disease | http://purl.obolibrary.org/obo/MONDO_0009063 | http://purl.obolibrary.org/obo/MONDO_0019741 |
cavernous hemangiomas of face-supraumbilical midline raphe syndrome | http://purl.obolibrary.org/obo/MONDO_0007706 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Rare genetic skin disease | http://www.orpha.net/ORDO/Orphanet_68346 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Genetic photodermatosis | http://www.orpha.net/ORDO/Orphanet_183490 | http://www.orpha.net/ORDO/Orphanet_68346 |
Genetic immune deficiency with skin involvement | http://www.orpha.net/ORDO/Orphanet_183494 | http://www.orpha.net/ORDO/Orphanet_68346 |
Erythroderma desquamativum | http://www.orpha.net/ORDO/Orphanet_314 | http://www.orpha.net/ORDO/Orphanet_183494 |
Hereditary mucoepithelial dysplasia | http://www.orpha.net/ORDO/Orphanet_1839 | http://www.orpha.net/ORDO/Orphanet_183494 |
Genetic subcutaneous tissue disorder | http://www.orpha.net/ORDO/Orphanet_183484 | http://www.orpha.net/ORDO/Orphanet_68346 |
Fibrodysplasia ossificans progressiva | http://www.orpha.net/ORDO/Orphanet_337 | http://www.orpha.net/ORDO/Orphanet_183484 |
Primary lipodystrophy | http://www.orpha.net/ORDO/Orphanet_90970 | http://www.orpha.net/ORDO/Orphanet_183484 |
Familial angiolipomatosis | http://www.orpha.net/ORDO/Orphanet_199279 | http://www.orpha.net/ORDO/Orphanet_183484 |
Familial multiple lipomatosis | http://www.orpha.net/ORDO/Orphanet_199276 | http://www.orpha.net/ORDO/Orphanet_183484 |
Genetic epidermal disorder | http://www.orpha.net/ORDO/Orphanet_183426 | http://www.orpha.net/ORDO/Orphanet_68346 |
Seborrhea-like dermatitis with psoriasiform elements | http://www.orpha.net/ORDO/Orphanet_168606 | http://www.orpha.net/ORDO/Orphanet_183426 |
Familial benign chronic pemphigus | http://www.orpha.net/ORDO/Orphanet_2841 | http://www.orpha.net/ORDO/Orphanet_183426 |
Hereditary poikiloderma | http://www.orpha.net/ORDO/Orphanet_222628 | http://www.orpha.net/ORDO/Orphanet_183426 |
Hereditary sclerosing poikiloderma, Weary type | http://www.orpha.net/ORDO/Orphanet_221039 | http://www.orpha.net/ORDO/Orphanet_222628 |
Inherited ichthyosis | http://www.orpha.net/ORDO/Orphanet_183435 | http://www.orpha.net/ORDO/Orphanet_183426 |
Inherited ichthyosis syndromic form | http://www.orpha.net/ORDO/Orphanet_281085 | http://www.orpha.net/ORDO/Orphanet_183435 |
Autosomal ichthyosis syndrome | http://www.orpha.net/ORDO/Orphanet_281217 | http://www.orpha.net/ORDO/Orphanet_281085 |
Autosomal ichthyosis syndrome with other associated signs | http://www.orpha.net/ORDO/Orphanet_281244 | http://www.orpha.net/ORDO/Orphanet_281217 |
Ichthyosis - oral and digital anomalies | http://www.orpha.net/ORDO/Orphanet_2272 | http://www.orpha.net/ORDO/Orphanet_281244 |
Ichthyosis-cheek-eyebrow syndrome | http://www.orpha.net/ORDO/Orphanet_2267 | http://www.orpha.net/ORDO/Orphanet_281244 |
Ichthyosis prematurity syndrome | http://www.orpha.net/ORDO/Orphanet_88621 | http://www.orpha.net/ORDO/Orphanet_281244 |
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome | http://www.orpha.net/ORDO/Orphanet_363992 | http://www.orpha.net/ORDO/Orphanet_281244 |
Autosomal ichthyosis syndrome with fatal disease course | http://www.orpha.net/ORDO/Orphanet_281241 | http://www.orpha.net/ORDO/Orphanet_281217 |
Autosomal ichthyosis syndrome with prominent neurologics signs | http://www.orpha.net/ORDO/Orphanet_281238 | http://www.orpha.net/ORDO/Orphanet_281217 |
Congenital ichthyosis - microcephalus - tetraplegia | http://www.orpha.net/ORDO/Orphanet_2271 | http://www.orpha.net/ORDO/Orphanet_281238 |
Autosomal ichthyosis syndrome with prominent hair abnormalities | http://www.orpha.net/ORDO/Orphanet_281222 | http://www.orpha.net/ORDO/Orphanet_281217 |
Ichthyosis-hypotrichosis syndrome | http://www.orpha.net/ORDO/Orphanet_91132 | http://www.orpha.net/ORDO/Orphanet_281222 |
Inherited non-syndromic ichthyosis | http://www.orpha.net/ORDO/Orphanet_281082 | http://www.orpha.net/ORDO/Orphanet_183435 |
Peeling skin syndrome | http://www.orpha.net/ORDO/Orphanet_817 | http://www.orpha.net/ORDO/Orphanet_281082 |
Acral peeling skin syndrome | http://www.orpha.net/ORDO/Orphanet_263534 | http://www.orpha.net/ORDO/Orphanet_817 |
Generalized peeling skin syndrome | http://www.orpha.net/ORDO/Orphanet_263543 | http://www.orpha.net/ORDO/Orphanet_817 |
Peeling skin syndrome type A | http://www.orpha.net/ORDO/Orphanet_263548 | http://www.orpha.net/ORDO/Orphanet_263543 |
Generalized peeling skin syndrome type C | http://www.orpha.net/ORDO/Orphanet_263558 | http://www.orpha.net/ORDO/Orphanet_263543 |
Erythrokeratodermia variabilis | http://www.orpha.net/ORDO/Orphanet_317 | http://www.orpha.net/ORDO/Orphanet_281082 |
Keratinopathic ichthyosis | http://www.orpha.net/ORDO/Orphanet_281103 | http://www.orpha.net/ORDO/Orphanet_281082 |
Superficial epidermolytic ichthyosis | http://www.orpha.net/ORDO/Orphanet_455 | http://www.orpha.net/ORDO/Orphanet_281103 |
Epidermolytic ichthyosis | http://www.orpha.net/ORDO/Orphanet_312 | http://www.orpha.net/ORDO/Orphanet_281103 |
Annular epidermolytic ichthyosis | http://www.orpha.net/ORDO/Orphanet_281139 | http://www.orpha.net/ORDO/Orphanet_281103 |
Ichthyosis hystrix of Curth-Macklin | http://www.orpha.net/ORDO/Orphanet_79503 | http://www.orpha.net/ORDO/Orphanet_281103 |
Ichthyosis hystrix gravior | http://www.orpha.net/ORDO/Orphanet_79504 | http://www.orpha.net/ORDO/Orphanet_281103 |
Congenital reticular ichthyosiform erythroderma | http://www.orpha.net/ORDO/Orphanet_281190 | http://www.orpha.net/ORDO/Orphanet_281082 |
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | http://www.orpha.net/ORDO/Orphanet_281201 | http://www.orpha.net/ORDO/Orphanet_281082 |
Autosomal recessive congenital ichthyosis | http://www.orpha.net/ORDO/Orphanet_281097 | http://www.orpha.net/ORDO/Orphanet_281082 |
Harlequin ichthyosis | http://www.orpha.net/ORDO/Orphanet_457 | http://www.orpha.net/ORDO/Orphanet_281097 |
Acral self-healing collodion baby | http://www.orpha.net/ORDO/Orphanet_281127 | http://www.orpha.net/ORDO/Orphanet_281097 |
Self-healing collodion baby | http://www.orpha.net/ORDO/Orphanet_281122 | http://www.orpha.net/ORDO/Orphanet_281097 |
Bathing suit ichthyosis | http://www.orpha.net/ORDO/Orphanet_100976 | http://www.orpha.net/ORDO/Orphanet_281097 |
Exfoliative ichthyosis | http://www.orpha.net/ORDO/Orphanet_289586 | http://www.orpha.net/ORDO/Orphanet_281097 |
Congenital non-bullous ichthyosiform erythroderma | http://www.orpha.net/ORDO/Orphanet_79394 | http://www.orpha.net/ORDO/Orphanet_281097 |
Keratoderma hereditarium mutilans with ichthyosis | http://www.orpha.net/ORDO/Orphanet_79395 | http://www.orpha.net/ORDO/Orphanet_281082 |
Genetic erythrokeratoderma | http://www.orpha.net/ORDO/Orphanet_183438 | http://www.orpha.net/ORDO/Orphanet_183426 |
Erythrokeratoderma variabilis progressiva | http://www.orpha.net/ORDO/Orphanet_308166 | http://www.orpha.net/ORDO/Orphanet_183438 |
Pityriasis rubra pilaris | http://www.orpha.net/ORDO/Orphanet_2897 | http://www.orpha.net/ORDO/Orphanet_183438 |
Erythrokeratoderma "en cocardes" | http://www.orpha.net/ORDO/Orphanet_315 | http://www.orpha.net/ORDO/Orphanet_183438 |
Genetic acrokeratoderma | http://www.orpha.net/ORDO/Orphanet_183441 | http://www.orpha.net/ORDO/Orphanet_183426 |
Genetic porokeratosis | http://www.orpha.net/ORDO/Orphanet_183444 | http://www.orpha.net/ORDO/Orphanet_183426 |
Malignant atrophic papulosis | http://www.orpha.net/ORDO/Orphanet_679 | http://www.orpha.net/ORDO/Orphanet_183444 |
Porokeratosis of Mibelli | http://www.orpha.net/ORDO/Orphanet_735 | http://www.orpha.net/ORDO/Orphanet_183444 |
Disseminated superficial actinic porokeratosis | http://www.orpha.net/ORDO/Orphanet_79152 | http://www.orpha.net/ORDO/Orphanet_183444 |
Inherited epidermolysis bullosa | http://www.orpha.net/ORDO/Orphanet_79361 | http://www.orpha.net/ORDO/Orphanet_183426 |
Dystrophic epidermolysis bullosa | http://www.orpha.net/ORDO/Orphanet_303 | http://www.orpha.net/ORDO/Orphanet_79361 |
Generalized dominant dystrophic epidermolysis bullosa | http://www.orpha.net/ORDO/Orphanet_231568 | http://www.orpha.net/ORDO/Orphanet_303 |
Dystrophic epidermolysis bullosa pruriginosa | http://www.orpha.net/ORDO/Orphanet_89843 | http://www.orpha.net/ORDO/Orphanet_303 |
Centripetalis recessive dystrophic epidermolysis bullosa | http://www.orpha.net/ORDO/Orphanet_89841 | http://www.orpha.net/ORDO/Orphanet_303 |
Acral dystrophic epidermolysis bullosa | http://www.orpha.net/ORDO/Orphanet_158673 | http://www.orpha.net/ORDO/Orphanet_303 |
Dystrophic epidermolysis bullosa, nails only | http://www.orpha.net/ORDO/Orphanet_158676 | http://www.orpha.net/ORDO/Orphanet_303 |
Recessive dystrophic epidermolysis bullosa inversa | http://www.orpha.net/ORDO/Orphanet_79409 | http://www.orpha.net/ORDO/Orphanet_303 |
Pretibial dystrophic epidermolysis bullosa | http://www.orpha.net/ORDO/Orphanet_79410 | http://www.orpha.net/ORDO/Orphanet_303 |
Transient bullous dermolysis of the newborn | http://www.orpha.net/ORDO/Orphanet_79411 | http://www.orpha.net/ORDO/Orphanet_303 |
Epidermolysis bullosa simplex | http://www.orpha.net/ORDO/Orphanet_304 | http://www.orpha.net/ORDO/Orphanet_79361 |
Epidermolysis bullosa simplex with anodontia/hypodontia | http://www.orpha.net/ORDO/Orphanet_2325 | http://www.orpha.net/ORDO/Orphanet_304 |
Suprabasal epidermolysis bullosa simplex | http://www.orpha.net/ORDO/Orphanet_158661 | http://www.orpha.net/ORDO/Orphanet_304 |
Epidermolysis bullosa simplex superficialis | http://www.orpha.net/ORDO/Orphanet_89839 | http://www.orpha.net/ORDO/Orphanet_158661 |
Lethal acantholytic epidermolysis bullosa | http://www.orpha.net/ORDO/Orphanet_158687 | http://www.orpha.net/ORDO/Orphanet_158661 |
Basal epidermolysis bullosa simplex | http://www.orpha.net/ORDO/Orphanet_158665 | http://www.orpha.net/ORDO/Orphanet_304 |
KRT14-related epidermolysis bullosa simplex | http://www.orpha.net/ORDO/Orphanet_89838 | http://www.orpha.net/ORDO/Orphanet_158665 |
Epidermolysis bullosa simplex with circinate migratory erythema | http://www.orpha.net/ORDO/Orphanet_158681 | http://www.orpha.net/ORDO/Orphanet_158665 |
Epidermolysis bullosa simplex with pyloric atresia | http://www.orpha.net/ORDO/Orphanet_158684 | http://www.orpha.net/ORDO/Orphanet_158665 |
Localized epidermolysis bullosa simplex | http://www.orpha.net/ORDO/Orphanet_79400 | http://www.orpha.net/ORDO/Orphanet_158665 |
Epidermolysis bullosa simplex, Ogna type | http://www.orpha.net/ORDO/Orphanet_79401 | http://www.orpha.net/ORDO/Orphanet_158665 |
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type | http://www.orpha.net/ORDO/Orphanet_79399 | http://www.orpha.net/ORDO/Orphanet_158665 |
Epidermolysis bullosa simplex, Dowling-Meara type | http://www.orpha.net/ORDO/Orphanet_79396 | http://www.orpha.net/ORDO/Orphanet_158665 |
Epidermolysis bullosa simplex with mottled pigmentation | http://www.orpha.net/ORDO/Orphanet_79397 | http://www.orpha.net/ORDO/Orphanet_158665 |
Junctional epidermolysis bullosa | http://www.orpha.net/ORDO/Orphanet_305 | http://www.orpha.net/ORDO/Orphanet_79361 |
Late-onset localized junctional epidermolysis bullosa - intellectual disability | http://www.orpha.net/ORDO/Orphanet_231556 | http://www.orpha.net/ORDO/Orphanet_305 |
Junctional epidermolysis bullosa, non-Herlitz type | http://www.orpha.net/ORDO/Orphanet_89840 | http://www.orpha.net/ORDO/Orphanet_305 |
Generalized junctional epidermolysis bullosa, non-Herlitz type | http://www.orpha.net/ORDO/Orphanet_79402 | http://www.orpha.net/ORDO/Orphanet_89840 |
Localized junctional epidermolysis bullosa, non-Herlitz type | http://www.orpha.net/ORDO/Orphanet_251393 | http://www.orpha.net/ORDO/Orphanet_89840 |
Junctional epidermolysis bullosa - pyloric atresia | http://www.orpha.net/ORDO/Orphanet_79403 | http://www.orpha.net/ORDO/Orphanet_305 |
Late-onset junctional epidermolysis bullosa | http://www.orpha.net/ORDO/Orphanet_79406 | http://www.orpha.net/ORDO/Orphanet_305 |
Junctional epidermolysis bullosa inversa | http://www.orpha.net/ORDO/Orphanet_79405 | http://www.orpha.net/ORDO/Orphanet_305 |
Other genetic epidermal disease | http://www.orpha.net/ORDO/Orphanet_79360 | http://www.orpha.net/ORDO/Orphanet_183426 |
Keratolytic winter erythema | http://www.orpha.net/ORDO/Orphanet_50943 | http://www.orpha.net/ORDO/Orphanet_79360 |
Hyperkeratosis lenticularis perstans | http://www.orpha.net/ORDO/Orphanet_409 | http://www.orpha.net/ORDO/Orphanet_79360 |
Keratosis pilaris atrophicans | http://www.orpha.net/ORDO/Orphanet_498 | http://www.orpha.net/ORDO/Orphanet_79360 |
Ulerythema ophryogenesis | http://www.orpha.net/ORDO/Orphanet_3406 | http://www.orpha.net/ORDO/Orphanet_498 |
Atrophoderma vermiculata | http://www.orpha.net/ORDO/Orphanet_79100 | http://www.orpha.net/ORDO/Orphanet_498 |
Severe achondroplasia - developmental delay - acanthosis nigricans | http://www.orpha.net/ORDO/Orphanet_85165 | http://www.orpha.net/ORDO/Orphanet_79360 |
Absence of fingerprints - congenital milia | http://www.orpha.net/ORDO/Orphanet_1658 | http://www.orpha.net/ORDO/Orphanet_79360 |
Familial Dupuytren contracture | http://www.orpha.net/ORDO/Orphanet_79142 | http://www.orpha.net/ORDO/Orphanet_79360 |
Hereditary palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_79357 | http://www.orpha.net/ORDO/Orphanet_183426 |
Focal palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_307837 | http://www.orpha.net/ORDO/Orphanet_79357 |
Isolated focal palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_307846 | http://www.orpha.net/ORDO/Orphanet_307837 |
Focal palmoplantar keratoderma with joint keratoses | http://www.orpha.net/ORDO/Orphanet_370002 | http://www.orpha.net/ORDO/Orphanet_307846 |
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering | http://www.orpha.net/ORDO/Orphanet_402003 | http://www.orpha.net/ORDO/Orphanet_307846 |
Hereditary painful callosities | http://www.orpha.net/ORDO/Orphanet_79141 | http://www.orpha.net/ORDO/Orphanet_307846 |
Disease with focal palmoplantar keratoderma as a major feature | http://www.orpha.net/ORDO/Orphanet_307871 | http://www.orpha.net/ORDO/Orphanet_307837 |
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature | http://www.orpha.net/ORDO/Orphanet_98357 | http://www.orpha.net/ORDO/Orphanet_307871 |
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature | http://www.orpha.net/ORDO/Orphanet_98353 | http://www.orpha.net/ORDO/Orphanet_307871 |
Focal palmoplantar and gingival keratoderma | http://www.orpha.net/ORDO/Orphanet_2200 | http://www.orpha.net/ORDO/Orphanet_98353 |
Pachyonychia congenita | http://www.orpha.net/ORDO/Orphanet_2309 | http://www.orpha.net/ORDO/Orphanet_98353 |
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome | http://www.orpha.net/ORDO/Orphanet_307936 | http://www.orpha.net/ORDO/Orphanet_98353 |
Diffuse palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_307141 | http://www.orpha.net/ORDO/Orphanet_79357 |
Disease with diffuse palmoplantar keratoderma as a major feature | http://www.orpha.net/ORDO/Orphanet_307711 | http://www.orpha.net/ORDO/Orphanet_307141 |
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature | http://www.orpha.net/ORDO/Orphanet_98352 | http://www.orpha.net/ORDO/Orphanet_307711 |
Keratosis palmaris et plantaris - clinodactyly | http://www.orpha.net/ORDO/Orphanet_86919 | http://www.orpha.net/ORDO/Orphanet_98352 |
Diffuse palmoplantar keratoderma-acrocyanosis syndrome | http://www.orpha.net/ORDO/Orphanet_86918 | http://www.orpha.net/ORDO/Orphanet_98352 |
Dermatopathia pigmentosa reticularis | http://www.orpha.net/ORDO/Orphanet_86920 | http://www.orpha.net/ORDO/Orphanet_98352 |
Palmoplantar keratoderma-sclerodactyly syndrome | http://www.orpha.net/ORDO/Orphanet_384 | http://www.orpha.net/ORDO/Orphanet_98352 |
Autosomal dominant palmoplantar keratoderma and congenital alopecia | http://www.orpha.net/ORDO/Orphanet_1010 | http://www.orpha.net/ORDO/Orphanet_98352 |
Autosomal dominant diffuse mutilating palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_307773 | http://www.orpha.net/ORDO/Orphanet_98352 |
Curly hair-acral keratoderma-caries syndrome | http://www.orpha.net/ORDO/Orphanet_307766 | http://www.orpha.net/ORDO/Orphanet_98352 |
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature | http://www.orpha.net/ORDO/Orphanet_307804 | http://www.orpha.net/ORDO/Orphanet_307711 |
Schöpf-Schulz-Passarge syndrome | http://www.orpha.net/ORDO/Orphanet_50944 | http://www.orpha.net/ORDO/Orphanet_307804 |
Odonto-onycho-dermal dysplasia | http://www.orpha.net/ORDO/Orphanet_2721 | http://www.orpha.net/ORDO/Orphanet_307804 |
Skin fragility-woolly hair-palmoplantar keratoderma syndrome | http://www.orpha.net/ORDO/Orphanet_293165 | http://www.orpha.net/ORDO/Orphanet_307804 |
Autosomal recessive palmoplantar keratoderma and congenital alopecia | http://www.orpha.net/ORDO/Orphanet_1366 | http://www.orpha.net/ORDO/Orphanet_307804 |
Isolated diffuse palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_307148 | http://www.orpha.net/ORDO/Orphanet_307141 |
Autosomal recessive isolated diffuse palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_98356 | http://www.orpha.net/ORDO/Orphanet_307148 |
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | http://www.orpha.net/ORDO/Orphanet_86923 | http://www.orpha.net/ORDO/Orphanet_98356 |
Palmoplantar keratoderma, Nagashima type | http://www.orpha.net/ORDO/Orphanet_140966 | http://www.orpha.net/ORDO/Orphanet_98356 |
Mal de Meleda | http://www.orpha.net/ORDO/Orphanet_87503 | http://www.orpha.net/ORDO/Orphanet_98356 |
Autosomal dominant isolated diffuse palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_98349 | http://www.orpha.net/ORDO/Orphanet_307148 |
Epidermolytic palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_2199 | http://www.orpha.net/ORDO/Orphanet_98349 |
Non-epidermolytic palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_2337 | http://www.orpha.net/ORDO/Orphanet_98349 |
Transgrediens et progrediens palmoplantar keratoderma | http://www.orpha.net/ORDO/Orphanet_495 | http://www.orpha.net/ORDO/Orphanet_98349 |
Diffuse palmoplantar keratoderma with painful fissures | http://www.orpha.net/ORDO/Orphanet_369999 | http://www.orpha.net/ORDO/Orphanet_98349 |
Genetic epidermal appendage anomaly | http://www.orpha.net/ORDO/Orphanet_183447 | http://www.orpha.net/ORDO/Orphanet_68346 |
Genetic hair anomaly | http://www.orpha.net/ORDO/Orphanet_183450 | http://www.orpha.net/ORDO/Orphanet_183447 |
Hypertrichosis | http://www.orpha.net/ORDO/Orphanet_79365 | http://www.orpha.net/ORDO/Orphanet_183450 |
Gingival fibromatosis-hypertrichosis syndrome | http://www.orpha.net/ORDO/Orphanet_2026 | http://www.orpha.net/ORDO/Orphanet_79365 |
Hypertrichosis cubiti - short stature | http://www.orpha.net/ORDO/Orphanet_2220 | http://www.orpha.net/ORDO/Orphanet_79365 |
Hypertrichosis-acromegaloid facial appearance syndrome | http://www.orpha.net/ORDO/Orphanet_966 | http://www.orpha.net/ORDO/Orphanet_79365 |
Isolated anterior cervical hypertrichosis | http://www.orpha.net/ORDO/Orphanet_3387 | http://www.orpha.net/ORDO/Orphanet_79365 |
Isolated hair shaft abnormality | http://www.orpha.net/ORDO/Orphanet_79366 | http://www.orpha.net/ORDO/Orphanet_183450 |
Pili torti | http://www.orpha.net/ORDO/Orphanet_2889 | http://www.orpha.net/ORDO/Orphanet_79366 |
Pili bifurcati | http://www.orpha.net/ORDO/Orphanet_720 | http://www.orpha.net/ORDO/Orphanet_79366 |
Monilethrix | http://www.orpha.net/ORDO/Orphanet_573 | http://www.orpha.net/ORDO/Orphanet_79366 |
Woolly hair | http://www.orpha.net/ORDO/Orphanet_170 | http://www.orpha.net/ORDO/Orphanet_79366 |
woolly hair, autosomal recessive 2, with or without hypotrichosis | http://www.ebi.ac.uk/efo/EFO_0009163 | http://www.orpha.net/ORDO/Orphanet_170 |
Ringed hair disease | http://www.orpha.net/ORDO/Orphanet_169 | http://www.orpha.net/ORDO/Orphanet_79366 |
Pili gemini | http://www.orpha.net/ORDO/Orphanet_79492 | http://www.orpha.net/ORDO/Orphanet_79366 |
Woolly hair nevus | http://www.orpha.net/ORDO/Orphanet_79414 | http://www.orpha.net/ORDO/Orphanet_79366 |
Uncombable hair syndrome | http://www.orpha.net/ORDO/Orphanet_1410 | http://www.orpha.net/ORDO/Orphanet_79366 |
Alopecia | http://www.orpha.net/ORDO/Orphanet_79364 | http://www.orpha.net/ORDO/Orphanet_183450 |
Atrichia with papular lesions | http://www.orpha.net/ORDO/Orphanet_86819 | http://www.orpha.net/ORDO/Orphanet_79364 |
Scarring alopecia of scalp | http://purl.obolibrary.org/obo/HP_0004552 | http://www.orpha.net/ORDO/Orphanet_79364 |
androgenetic alopecia | http://www.ebi.ac.uk/efo/EFO_0004191 | http://www.orpha.net/ORDO/Orphanet_79364 |
alopecia areata | http://www.ebi.ac.uk/efo/EFO_0004192 | http://www.orpha.net/ORDO/Orphanet_79364 |
Frontonasal dysplasia with alopecia and genital anomaly | http://www.orpha.net/ORDO/Orphanet_228390 | http://www.orpha.net/ORDO/Orphanet_79364 |
Alopecia totalis | http://www.orpha.net/ORDO/Orphanet_700 | http://www.orpha.net/ORDO/Orphanet_79364 |
Alopecia universalis | http://www.orpha.net/ORDO/Orphanet_701 | http://www.orpha.net/ORDO/Orphanet_79364 |
Loose anagen syndrome | http://www.orpha.net/ORDO/Orphanet_168 | http://www.orpha.net/ORDO/Orphanet_79364 |
cicatricial alopecia | http://www.ebi.ac.uk/efo/EFO_1002028 | http://www.orpha.net/ORDO/Orphanet_79364 |
Alopecia - intellectual disability - hypergonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_1014 | http://www.orpha.net/ORDO/Orphanet_79364 |
Alopecia antibody deficiency | http://www.orpha.net/ORDO/Orphanet_1006 | http://www.orpha.net/ORDO/Orphanet_79364 |
Hereditary hypotrichosis with recurrent skin vesicles | http://www.orpha.net/ORDO/Orphanet_217407 | http://www.orpha.net/ORDO/Orphanet_79364 |
Hypotrichosis simplex | http://www.orpha.net/ORDO/Orphanet_55654 | http://www.orpha.net/ORDO/Orphanet_79364 |
Hypotrichosis simplex of the scalp | http://www.orpha.net/ORDO/Orphanet_90368 | http://www.orpha.net/ORDO/Orphanet_79364 |
frontal fibrosing alopecia | http://www.ebi.ac.uk/efo/EFO_0009855 | http://www.orpha.net/ORDO/Orphanet_79364 |
Syndromic hair shaft abnormality | http://www.orpha.net/ORDO/Orphanet_79367 | http://www.orpha.net/ORDO/Orphanet_183450 |
Pili torti - developmental delay - neurological abnormalities | http://www.orpha.net/ORDO/Orphanet_2891 | http://www.orpha.net/ORDO/Orphanet_79367 |
Trichodysplasia - xeroderma | http://www.orpha.net/ORDO/Orphanet_3361 | http://www.orpha.net/ORDO/Orphanet_79367 |
Trichodental syndrome | http://www.orpha.net/ORDO/Orphanet_3351 | http://www.orpha.net/ORDO/Orphanet_79367 |
Tricho-dento-osseous syndrome | http://www.orpha.net/ORDO/Orphanet_3352 | http://www.orpha.net/ORDO/Orphanet_79367 |
Woolly hair - hypotrichosis - everted lower lip - outstanding ears | http://www.orpha.net/ORDO/Orphanet_1409 | http://www.orpha.net/ORDO/Orphanet_79367 |
Trichothiodystrophy | http://www.orpha.net/ORDO/Orphanet_33364 | http://www.orpha.net/ORDO/Orphanet_79367 |
Genetic nail anomaly | http://www.orpha.net/ORDO/Orphanet_183454 | http://www.orpha.net/ORDO/Orphanet_183447 |
Isolated nail anomaly | http://www.orpha.net/ORDO/Orphanet_79369 | http://www.orpha.net/ORDO/Orphanet_183454 |
Leukonychia totalis | http://www.orpha.net/ORDO/Orphanet_2387 | http://www.orpha.net/ORDO/Orphanet_79369 |
Isolated congenital digital clubbing | http://www.orpha.net/ORDO/Orphanet_217059 | http://www.orpha.net/ORDO/Orphanet_79369 |
Congenital anonychia | http://www.orpha.net/ORDO/Orphanet_79143 | http://www.orpha.net/ORDO/Orphanet_79369 |
Anonychia congenita totalis | http://www.orpha.net/ORDO/Orphanet_94150 | http://www.orpha.net/ORDO/Orphanet_79143 |
Anonychia - onychodystrophy | http://www.orpha.net/ORDO/Orphanet_90390 | http://www.orpha.net/ORDO/Orphanet_79143 |
Congenital onychodysplasia | http://www.orpha.net/ORDO/Orphanet_79144 | http://www.orpha.net/ORDO/Orphanet_79369 |
Autosomal dominant nail dysplasia | http://www.orpha.net/ORDO/Orphanet_79153 | http://www.orpha.net/ORDO/Orphanet_79369 |
Syndromic nail anomaly | http://www.orpha.net/ORDO/Orphanet_79370 | http://www.orpha.net/ORDO/Orphanet_183454 |
Anonychia with flexural pigmentation | http://www.orpha.net/ORDO/Orphanet_69125 | http://www.orpha.net/ORDO/Orphanet_79370 |
Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair | http://www.orpha.net/ORDO/Orphanet_210133 | http://www.orpha.net/ORDO/Orphanet_79370 |
Odontomicronychial dysplasia | http://www.orpha.net/ORDO/Orphanet_1811 | http://www.orpha.net/ORDO/Orphanet_79370 |
Genetic sebaceous gland anomaly | http://www.orpha.net/ORDO/Orphanet_183460 | http://www.orpha.net/ORDO/Orphanet_183447 |
Sebocystomatosis | http://www.orpha.net/ORDO/Orphanet_841 | http://www.orpha.net/ORDO/Orphanet_183460 |
Steatocystoma multiplex - natal teeth | http://www.orpha.net/ORDO/Orphanet_3184 | http://www.orpha.net/ORDO/Orphanet_183460 |
Ectodermal dysplasia syndrome | http://www.orpha.net/ORDO/Orphanet_79373 | http://www.orpha.net/ORDO/Orphanet_183447 |
Scalp-ear-nipple syndrome | http://www.orpha.net/ORDO/Orphanet_2036 | http://www.orpha.net/ORDO/Orphanet_79373 |
Ectodermal dysplasia - syndactyly syndrome | http://www.orpha.net/ORDO/Orphanet_247820 | http://www.orpha.net/ORDO/Orphanet_79373 |
Ectodermal dysplasia - cutaneous syndactyly syndrome | http://www.orpha.net/ORDO/Orphanet_247827 | http://www.orpha.net/ORDO/Orphanet_79373 |
Odonto-tricho-ungual-digito-palmar syndrome | http://www.orpha.net/ORDO/Orphanet_69082 | http://www.orpha.net/ORDO/Orphanet_79373 |
Ectodermal dysplasia with natal teeth, Turnpenny type | http://www.orpha.net/ORDO/Orphanet_69083 | http://www.orpha.net/ORDO/Orphanet_79373 |
Pure hair and nail ectodermal dysplasia | http://www.orpha.net/ORDO/Orphanet_69084 | http://www.orpha.net/ORDO/Orphanet_79373 |
Hypodontia - dysplasia of nails | http://www.orpha.net/ORDO/Orphanet_2228 | http://www.orpha.net/ORDO/Orphanet_79373 |
Acrofacial dysostosis, Weyers type | http://www.orpha.net/ORDO/Orphanet_952 | http://www.orpha.net/ORDO/Orphanet_79373 |
Pili torti - onychodysplasia | http://www.orpha.net/ORDO/Orphanet_2890 | http://www.orpha.net/ORDO/Orphanet_79373 |
Pilodental dysplasia - refractive errors | http://www.orpha.net/ORDO/Orphanet_2892 | http://www.orpha.net/ORDO/Orphanet_79373 |
Oculoosteocutaneous syndrome | http://www.orpha.net/ORDO/Orphanet_2713 | http://www.orpha.net/ORDO/Orphanet_79373 |
Taurodontia - absent teeth - sparse hair | http://www.orpha.net/ORDO/Orphanet_2731 | http://www.orpha.net/ORDO/Orphanet_79373 |
Odonto-onycho dysplasia - alopecia | http://www.orpha.net/ORDO/Orphanet_2722 | http://www.orpha.net/ORDO/Orphanet_79373 |
Odontotrichomelic syndrome | http://www.orpha.net/ORDO/Orphanet_2723 | http://www.orpha.net/ORDO/Orphanet_79373 |
Sparse hair - short stature - skin anomalies | http://www.orpha.net/ORDO/Orphanet_79132 | http://www.orpha.net/ORDO/Orphanet_79373 |
Trichodysplasia - amelogenesis imperfecta | http://www.orpha.net/ORDO/Orphanet_79129 | http://www.orpha.net/ORDO/Orphanet_79373 |
Amelo-cerebro-hypohidrotic syndrome | http://www.orpha.net/ORDO/Orphanet_1946 | http://www.orpha.net/ORDO/Orphanet_79373 |
Hidrotic ectodermal dysplasia, Halal type | http://www.orpha.net/ORDO/Orphanet_1809 | http://www.orpha.net/ORDO/Orphanet_79373 |
Hidrotic ectodermal dysplasia, Christianson-Fourie type | http://www.orpha.net/ORDO/Orphanet_1808 | http://www.orpha.net/ORDO/Orphanet_79373 |
Ectodermal dysplasia, trichoodontoonychial type | http://www.orpha.net/ORDO/Orphanet_1818 | http://www.orpha.net/ORDO/Orphanet_79373 |
Ectodermal dysplasia - intellectual disability - central nervous system malformation | http://www.orpha.net/ORDO/Orphanet_1812 | http://www.orpha.net/ORDO/Orphanet_79373 |
Choroidal atrophy - alopecia | http://www.orpha.net/ORDO/Orphanet_1433 | http://www.orpha.net/ORDO/Orphanet_79373 |
Dermatoosteolysis, Kirghizian type | http://www.orpha.net/ORDO/Orphanet_1657 | http://www.orpha.net/ORDO/Orphanet_79373 |
Dermo-odonto dysplasia | http://www.orpha.net/ORDO/Orphanet_1660 | http://www.orpha.net/ORDO/Orphanet_79373 |
Trichorhinophalangeal syndrome | http://www.orpha.net/ORDO/Orphanet_324764 | http://www.orpha.net/ORDO/Orphanet_79373 |
Langer-Giedion syndrome | http://www.orpha.net/ORDO/Orphanet_502 | http://www.orpha.net/ORDO/Orphanet_324764 |
Trichorhinophalangeal syndrome type 1 and 3 | http://www.orpha.net/ORDO/Orphanet_77258 | http://www.orpha.net/ORDO/Orphanet_324764 |
Dermotrichic syndrome | http://www.orpha.net/ORDO/Orphanet_99688 | http://www.orpha.net/ORDO/Orphanet_79373 |
Focal facial dermal dysplasia | http://www.orpha.net/ORDO/Orphanet_398166 | http://www.orpha.net/ORDO/Orphanet_79373 |
Focal facial dermal dysplasia type IV | http://www.orpha.net/ORDO/Orphanet_398189 | http://www.orpha.net/ORDO/Orphanet_398166 |
Focal facial dermal dysplasia type II | http://www.orpha.net/ORDO/Orphanet_398173 | http://www.orpha.net/ORDO/Orphanet_398166 |
Focal facial dermal dysplasia type III | http://www.orpha.net/ORDO/Orphanet_1807 | http://www.orpha.net/ORDO/Orphanet_398166 |
Focal facial dermal dysplasia type I | http://www.orpha.net/ORDO/Orphanet_79133 | http://www.orpha.net/ORDO/Orphanet_398166 |
Amelo-onycho-hypohidrotic syndrome | http://www.orpha.net/ORDO/Orphanet_1028 | http://www.orpha.net/ORDO/Orphanet_79373 |
Tricho-retino-dento-digital syndrome | http://www.orpha.net/ORDO/Orphanet_1264 | http://www.orpha.net/ORDO/Orphanet_79373 |
Cerebellar ataxia - ectodermal dysplasia | http://www.orpha.net/ORDO/Orphanet_1174 | http://www.orpha.net/ORDO/Orphanet_79373 |
Conductive deafness - ptosis - skeletal anomalies | http://www.orpha.net/ORDO/Orphanet_3236 | http://www.orpha.net/ORDO/Orphanet_79373 |
Trichoodontoonychial dysplasia | http://www.orpha.net/ORDO/Orphanet_3355 | http://www.orpha.net/ORDO/Orphanet_79373 |
Tricho-oculo-dermo-vertebral syndrome | http://www.orpha.net/ORDO/Orphanet_3354 | http://www.orpha.net/ORDO/Orphanet_79373 |
Trichodermodysplasia - dental alterations | http://www.orpha.net/ORDO/Orphanet_3353 | http://www.orpha.net/ORDO/Orphanet_79373 |
Autosomal dominant trichoodontoonychodysplasia-syndactyly | http://www.orpha.net/ORDO/Orphanet_3357 | http://www.orpha.net/ORDO/Orphanet_79373 |
Trichomegaly - retina pigmentary degeneration - dwarfism | http://www.orpha.net/ORDO/Orphanet_3363 | http://www.orpha.net/ORDO/Orphanet_79373 |
Trichomegaly - cataract - hereditary spherocytosis | http://www.orpha.net/ORDO/Orphanet_3362 | http://www.orpha.net/ORDO/Orphanet_79373 |
Genetic pigmentation anomaly of the skin | http://www.orpha.net/ORDO/Orphanet_183463 | http://www.orpha.net/ORDO/Orphanet_68346 |
Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2435 | http://www.orpha.net/ORDO/Orphanet_183463 |
Familial progressive hyper- and hypopigmentation | http://www.orpha.net/ORDO/Orphanet_280628 | http://www.orpha.net/ORDO/Orphanet_183463 |
Genetic hypopigmentation of the skin | http://www.orpha.net/ORDO/Orphanet_183469 | http://www.orpha.net/ORDO/Orphanet_183463 |
Piebald trait - neurologic defects | http://www.orpha.net/ORDO/Orphanet_2885 | http://www.orpha.net/ORDO/Orphanet_183469 |
Genetic hyperpigmentation of the skin | http://www.orpha.net/ORDO/Orphanet_183466 | http://www.orpha.net/ORDO/Orphanet_183463 |
Familial generalized lentiginosis | http://www.orpha.net/ORDO/Orphanet_231040 | http://www.orpha.net/ORDO/Orphanet_183466 |
Gastrocutaneous syndrome | http://www.orpha.net/ORDO/Orphanet_2069 | http://www.orpha.net/ORDO/Orphanet_183466 |
Terminal osseous dysplasia - pigmentary defects | http://www.orpha.net/ORDO/Orphanet_88630 | http://www.orpha.net/ORDO/Orphanet_183466 |
Neurofibromatosis type 3 | http://www.orpha.net/ORDO/Orphanet_93921 | http://www.orpha.net/ORDO/Orphanet_183466 |
Reticulate acropigmentation of Kitamura | http://www.orpha.net/ORDO/Orphanet_178307 | http://www.orpha.net/ORDO/Orphanet_183466 |
Neurofibromatosis-Noonan syndrome | http://www.orpha.net/ORDO/Orphanet_638 | http://www.orpha.net/ORDO/Orphanet_183466 |
Neurofibromatosis type 6 | http://www.orpha.net/ORDO/Orphanet_2678 | http://www.orpha.net/ORDO/Orphanet_183466 |
Osteopathia striata - pigmentary dermopathy - white forelock | http://www.orpha.net/ORDO/Orphanet_2779 | http://www.orpha.net/ORDO/Orphanet_183466 |
Dyschromatosis universalis | http://www.orpha.net/ORDO/Orphanet_241 | http://www.orpha.net/ORDO/Orphanet_183466 |
Dyschromatosis symmetrica hereditaria | http://www.orpha.net/ORDO/Orphanet_41 | http://www.orpha.net/ORDO/Orphanet_183466 |
Familial progressive hyperpigmentation | http://www.orpha.net/ORDO/Orphanet_79146 | http://www.orpha.net/ORDO/Orphanet_183466 |
Linear and whorled nevoid hypermelanosis | http://www.orpha.net/ORDO/Orphanet_79150 | http://www.orpha.net/ORDO/Orphanet_183466 |
x-linked ichthyosis with steryl-sulfatase deficiency | http://www.ebi.ac.uk/efo/EFO_0009080 | http://www.orpha.net/ORDO/Orphanet_68346 |
Metabolic disease with skin involvement | http://www.orpha.net/ORDO/Orphanet_79387 | http://www.orpha.net/ORDO/Orphanet_68346 |
Congenital disorder of glycosylation with skin involvement | http://www.orpha.net/ORDO/Orphanet_371200 | http://www.orpha.net/ORDO/Orphanet_79387 |
Mucopolysaccharidosis with skin involvement | http://www.orpha.net/ORDO/Orphanet_79388 | http://www.orpha.net/ORDO/Orphanet_79387 |
Unclassified genetic skin disorder | http://www.orpha.net/ORDO/Orphanet_79385 | http://www.orpha.net/ORDO/Orphanet_68346 |
Erythema palmaris hereditarium | http://www.orpha.net/ORDO/Orphanet_231031 | http://www.orpha.net/ORDO/Orphanet_79385 |
Multiple benign circumferential skin creases on limbs | http://www.orpha.net/ORDO/Orphanet_2505 | http://www.orpha.net/ORDO/Orphanet_79385 |
Stiff skin syndrome | http://www.orpha.net/ORDO/Orphanet_2833 | http://www.orpha.net/ORDO/Orphanet_79385 |
PELVIS syndrome | http://www.orpha.net/ORDO/Orphanet_83628 | http://www.orpha.net/ORDO/Orphanet_79385 |
Pustulosis palmaris et plantaris | http://www.orpha.net/ORDO/Orphanet_163927 | http://www.orpha.net/ORDO/Orphanet_79385 |
Congenital lethal erythroderma | http://www.orpha.net/ORDO/Orphanet_1954 | http://www.orpha.net/ORDO/Orphanet_79385 |
Chromosomal anomaly | http://www.orpha.net/ORDO/Orphanet_68335 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Polyploidy | http://www.orpha.net/ORDO/Orphanet_96321 | http://www.orpha.net/ORDO/Orphanet_68335 |
Tetraploidy | http://www.orpha.net/ORDO/Orphanet_3305 | http://www.orpha.net/ORDO/Orphanet_96321 |
Autosomal anomaly | http://www.orpha.net/ORDO/Orphanet_98127 | http://www.orpha.net/ORDO/Orphanet_68335 |
Autosomal trisomy | http://www.orpha.net/ORDO/Orphanet_98130 | http://www.orpha.net/ORDO/Orphanet_98127 |
Total autosomal trisomy | http://www.orpha.net/ORDO/Orphanet_98131 | http://www.orpha.net/ORDO/Orphanet_98130 |
Mosaic trisomy 10 | http://www.orpha.net/ORDO/Orphanet_96063 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 8 | http://www.orpha.net/ORDO/Orphanet_96061 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 5 | http://www.orpha.net/ORDO/Orphanet_96060 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 22 | http://www.orpha.net/ORDO/Orphanet_96068 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 4 | http://www.orpha.net/ORDO/Orphanet_96059 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 3 | http://www.orpha.net/ORDO/Orphanet_100071 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 9 | http://www.orpha.net/ORDO/Orphanet_99776 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 14 | http://www.orpha.net/ORDO/Orphanet_1703 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 15 | http://www.orpha.net/ORDO/Orphanet_1706 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 16 | http://www.orpha.net/ORDO/Orphanet_1708 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 7 | http://www.orpha.net/ORDO/Orphanet_1747 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 2 | http://www.orpha.net/ORDO/Orphanet_1723 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 20 | http://www.orpha.net/ORDO/Orphanet_1724 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 17 | http://www.orpha.net/ORDO/Orphanet_1711 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 12 | http://www.orpha.net/ORDO/Orphanet_1698 | http://www.orpha.net/ORDO/Orphanet_98131 |
Mosaic trisomy 1 | http://www.orpha.net/ORDO/Orphanet_1692 | http://www.orpha.net/ORDO/Orphanet_98131 |
Partial autosomal trisomy/tetrasomy | http://www.orpha.net/ORDO/Orphanet_98132 | http://www.orpha.net/ORDO/Orphanet_98130 |
Tetrasomy 21 | http://www.orpha.net/ORDO/Orphanet_96055 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of chromosome 2 | http://www.orpha.net/ORDO/Orphanet_262196 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 2 | http://www.orpha.net/ORDO/Orphanet_262842 | http://www.orpha.net/ORDO/Orphanet_262196 |
Distal trisomy 2q | http://www.orpha.net/ORDO/Orphanet_96094 | http://www.orpha.net/ORDO/Orphanet_262842 |
Partial duplication of the short arm of chromosome 2 | http://www.orpha.net/ORDO/Orphanet_262698 | http://www.orpha.net/ORDO/Orphanet_262196 |
Distal trisomy 2p | http://www.orpha.net/ORDO/Orphanet_96070 | http://www.orpha.net/ORDO/Orphanet_262698 |
Partial duplication of chromosome 1 | http://www.orpha.net/ORDO/Orphanet_262191 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the short arm of chromosome 1 | http://www.orpha.net/ORDO/Orphanet_264431 | http://www.orpha.net/ORDO/Orphanet_262191 |
Distal trisomy 1p36 | http://www.orpha.net/ORDO/Orphanet_96069 | http://www.orpha.net/ORDO/Orphanet_264431 |
Partial duplication of the long arm of chromosome 1 | http://www.orpha.net/ORDO/Orphanet_262833 | http://www.orpha.net/ORDO/Orphanet_262191 |
1q21.1 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_250994 | http://www.orpha.net/ORDO/Orphanet_262833 |
Trisomy 1q | http://www.orpha.net/ORDO/Orphanet_261344 | http://www.orpha.net/ORDO/Orphanet_262833 |
Partial duplication of chromosome 4 | http://www.orpha.net/ORDO/Orphanet_262206 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 4 | http://www.orpha.net/ORDO/Orphanet_262860 | http://www.orpha.net/ORDO/Orphanet_262206 |
Distal trisomy 4q | http://www.orpha.net/ORDO/Orphanet_96096 | http://www.orpha.net/ORDO/Orphanet_262860 |
Partial duplication of the short arm of chromosome 4 | http://www.orpha.net/ORDO/Orphanet_262716 | http://www.orpha.net/ORDO/Orphanet_262206 |
Trisomy 4p | http://www.orpha.net/ORDO/Orphanet_1738 | http://www.orpha.net/ORDO/Orphanet_262716 |
Partial duplication of chromosome 3 | http://www.orpha.net/ORDO/Orphanet_262201 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 3 | http://www.orpha.net/ORDO/Orphanet_262851 | http://www.orpha.net/ORDO/Orphanet_262201 |
3q29 microduplication | http://www.orpha.net/ORDO/Orphanet_251038 | http://www.orpha.net/ORDO/Orphanet_262851 |
Partial duplication of the short arm of chromosome 3 | http://www.orpha.net/ORDO/Orphanet_262707 | http://www.orpha.net/ORDO/Orphanet_262201 |
Distal trisomy 3p | http://www.orpha.net/ORDO/Orphanet_96071 | http://www.orpha.net/ORDO/Orphanet_262707 |
Partial trisomy/tetrasomy of chromosome 5 | http://www.orpha.net/ORDO/Orphanet_262211 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial trisomy of the long arm of chromosome 5 | http://www.orpha.net/ORDO/Orphanet_262869 | http://www.orpha.net/ORDO/Orphanet_262211 |
Distal trisomy 5q | http://www.orpha.net/ORDO/Orphanet_96097 | http://www.orpha.net/ORDO/Orphanet_262869 |
Partial trisomy/tetrasomy of the short arm of chromosome 5 | http://www.orpha.net/ORDO/Orphanet_262725 | http://www.orpha.net/ORDO/Orphanet_262211 |
Trisomy 5p | http://www.orpha.net/ORDO/Orphanet_1742 | http://www.orpha.net/ORDO/Orphanet_262725 |
Tetrasomy 5p | http://www.orpha.net/ORDO/Orphanet_3309 | http://www.orpha.net/ORDO/Orphanet_1742 |
Partial duplication of the long arm of chromosome 14 | http://www.orpha.net/ORDO/Orphanet_262941 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 15 | http://www.orpha.net/ORDO/Orphanet_262950 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 13 | http://www.orpha.net/ORDO/Orphanet_262932 | http://www.orpha.net/ORDO/Orphanet_98132 |
Distal trisomy 13q | http://www.orpha.net/ORDO/Orphanet_96105 | http://www.orpha.net/ORDO/Orphanet_262932 |
Non-distal trisomy 13q | http://www.orpha.net/ORDO/Orphanet_1702 | http://www.orpha.net/ORDO/Orphanet_262932 |
Partial duplication of chromosome 17 | http://www.orpha.net/ORDO/Orphanet_262677 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the short arm of chromosome 17 | http://www.orpha.net/ORDO/Orphanet_262803 | http://www.orpha.net/ORDO/Orphanet_262677 |
17p13.3 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_217385 | http://www.orpha.net/ORDO/Orphanet_262803 |
Trisomy 17p | http://www.orpha.net/ORDO/Orphanet_261290 | http://www.orpha.net/ORDO/Orphanet_262803 |
Partial duplication of the long arm of chromosome 17 | http://www.orpha.net/ORDO/Orphanet_262968 | http://www.orpha.net/ORDO/Orphanet_262677 |
Distal trisomy 17q | http://www.orpha.net/ORDO/Orphanet_3379 | http://www.orpha.net/ORDO/Orphanet_262968 |
17q21.31 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_217340 | http://www.orpha.net/ORDO/Orphanet_262968 |
Familial clubfoot due to 17q23.1q23.2 microduplication | http://www.orpha.net/ORDO/Orphanet_238578 | http://www.orpha.net/ORDO/Orphanet_262968 |
17q12 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_261272 | http://www.orpha.net/ORDO/Orphanet_262968 |
Partial duplication of chromosome 16 | http://www.orpha.net/ORDO/Orphanet_262672 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial trisomy of the long arm of chromosome 16 | http://www.orpha.net/ORDO/Orphanet_262959 | http://www.orpha.net/ORDO/Orphanet_262672 |
Distal trisomy 16q | http://www.orpha.net/ORDO/Orphanet_96106 | http://www.orpha.net/ORDO/Orphanet_262959 |
Partial duplication of the short arm of chromosome 16 | http://www.orpha.net/ORDO/Orphanet_262794 | http://www.orpha.net/ORDO/Orphanet_262672 |
16p13.3 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_96078 | http://www.orpha.net/ORDO/Orphanet_262794 |
Partial duplication of chromosome 19 | http://www.orpha.net/ORDO/Orphanet_262687 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 19 | http://www.orpha.net/ORDO/Orphanet_262986 | http://www.orpha.net/ORDO/Orphanet_262687 |
Distal trisomy 19q | http://www.orpha.net/ORDO/Orphanet_1717 | http://www.orpha.net/ORDO/Orphanet_262986 |
Partial trisomy/tetrasomy of chromosome 18 | http://www.orpha.net/ORDO/Orphanet_262682 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial trisomy/tetrasomy of the short arm of chromosome 18 | http://www.orpha.net/ORDO/Orphanet_262812 | http://www.orpha.net/ORDO/Orphanet_262682 |
Tetrasomy 18p | http://www.orpha.net/ORDO/Orphanet_3307 | http://www.orpha.net/ORDO/Orphanet_262812 |
Trisomy 18p | http://www.orpha.net/ORDO/Orphanet_1715 | http://www.orpha.net/ORDO/Orphanet_262812 |
Partial trisomy of the long arm of chromosome 18 | http://www.orpha.net/ORDO/Orphanet_262977 | http://www.orpha.net/ORDO/Orphanet_262682 |
Distal trisomy 18q | http://www.orpha.net/ORDO/Orphanet_1716 | http://www.orpha.net/ORDO/Orphanet_262977 |
Partial trisomy of chromosome 20 | http://www.orpha.net/ORDO/Orphanet_262692 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial trisomy of the long arm of chromosome 20 | http://www.orpha.net/ORDO/Orphanet_262995 | http://www.orpha.net/ORDO/Orphanet_262692 |
Distal trisomy 20q | http://www.orpha.net/ORDO/Orphanet_96107 | http://www.orpha.net/ORDO/Orphanet_262995 |
Trisomy 20p | http://www.orpha.net/ORDO/Orphanet_261318 | http://www.orpha.net/ORDO/Orphanet_262692 |
Partial duplication of chromosome 6 | http://www.orpha.net/ORDO/Orphanet_262628 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 6 | http://www.orpha.net/ORDO/Orphanet_262878 | http://www.orpha.net/ORDO/Orphanet_262628 |
Distal trisomy 6q | http://www.orpha.net/ORDO/Orphanet_96098 | http://www.orpha.net/ORDO/Orphanet_262878 |
Partial duplication of the short arm of chromosome 6 | http://www.orpha.net/ORDO/Orphanet_262740 | http://www.orpha.net/ORDO/Orphanet_262628 |
Distal trisomy 6p | http://www.orpha.net/ORDO/Orphanet_1745 | http://www.orpha.net/ORDO/Orphanet_262740 |
Partial duplication of chromosome 8 | http://www.orpha.net/ORDO/Orphanet_262638 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 8 | http://www.orpha.net/ORDO/Orphanet_262896 | http://www.orpha.net/ORDO/Orphanet_262638 |
Distal trisomy 8q | http://www.orpha.net/ORDO/Orphanet_96100 | http://www.orpha.net/ORDO/Orphanet_262896 |
Trisomy 8q | http://www.orpha.net/ORDO/Orphanet_1752 | http://www.orpha.net/ORDO/Orphanet_262896 |
Partial duplication of the short arm of chromosome 8 | http://www.orpha.net/ORDO/Orphanet_262758 | http://www.orpha.net/ORDO/Orphanet_262638 |
Trisomy 8p | http://www.orpha.net/ORDO/Orphanet_264450 | http://www.orpha.net/ORDO/Orphanet_262758 |
8p23.1 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_251076 | http://www.orpha.net/ORDO/Orphanet_262758 |
Partial duplication of chromosome 7 | http://www.orpha.net/ORDO/Orphanet_262633 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 7 | http://www.orpha.net/ORDO/Orphanet_262887 | http://www.orpha.net/ORDO/Orphanet_262633 |
Distal 7q11.23 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_261102 | http://www.orpha.net/ORDO/Orphanet_262887 |
Partial duplication of the short arm of chromosome 7 | http://www.orpha.net/ORDO/Orphanet_262749 | http://www.orpha.net/ORDO/Orphanet_262633 |
Distal trisomy 7p | http://www.orpha.net/ORDO/Orphanet_96074 | http://www.orpha.net/ORDO/Orphanet_262749 |
Partial duplication of chromosome 10 | http://www.orpha.net/ORDO/Orphanet_262648 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 10 | http://www.orpha.net/ORDO/Orphanet_262914 | http://www.orpha.net/ORDO/Orphanet_262648 |
Distal trisomy 10q | http://www.orpha.net/ORDO/Orphanet_96102 | http://www.orpha.net/ORDO/Orphanet_262914 |
Non-distal trisomy 10q | http://www.orpha.net/ORDO/Orphanet_1695 | http://www.orpha.net/ORDO/Orphanet_262914 |
Partial duplication of the short arm of chromosome 10 | http://www.orpha.net/ORDO/Orphanet_262776 | http://www.orpha.net/ORDO/Orphanet_262648 |
Trisomy 10p | http://www.orpha.net/ORDO/Orphanet_171929 | http://www.orpha.net/ORDO/Orphanet_262776 |
Partial trisomy/tetrasomy of chromosome 9 | http://www.orpha.net/ORDO/Orphanet_262643 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial trisomy of the long arm of chromosome 9 | http://www.orpha.net/ORDO/Orphanet_262905 | http://www.orpha.net/ORDO/Orphanet_262643 |
Non-distal trisomy 9q | http://www.orpha.net/ORDO/Orphanet_96112 | http://www.orpha.net/ORDO/Orphanet_262905 |
Distal trisomy 9q | http://www.orpha.net/ORDO/Orphanet_96101 | http://www.orpha.net/ORDO/Orphanet_262905 |
Partial trisomy of the short arm of chromosome 9 | http://www.orpha.net/ORDO/Orphanet_262767 | http://www.orpha.net/ORDO/Orphanet_262643 |
Trisomy 9p | http://www.orpha.net/ORDO/Orphanet_236 | http://www.orpha.net/ORDO/Orphanet_262767 |
Tetrasomy 9p | http://www.orpha.net/ORDO/Orphanet_3310 | http://www.orpha.net/ORDO/Orphanet_262767 |
Partial trisomy/tetrasomy of the short arm of chromosome 12 | http://www.orpha.net/ORDO/Orphanet_262658 | http://www.orpha.net/ORDO/Orphanet_98132 |
Tetrasomy 12p | http://www.orpha.net/ORDO/Orphanet_884 | http://www.orpha.net/ORDO/Orphanet_262658 |
Trisomy 12p | http://www.orpha.net/ORDO/Orphanet_1699 | http://www.orpha.net/ORDO/Orphanet_262658 |
Partial duplication of chromosome 11 | http://www.orpha.net/ORDO/Orphanet_262653 | http://www.orpha.net/ORDO/Orphanet_98132 |
Partial duplication of the long arm of chromosome 11 | http://www.orpha.net/ORDO/Orphanet_262923 | http://www.orpha.net/ORDO/Orphanet_262653 |
Distal trisomy 11q | http://www.orpha.net/ORDO/Orphanet_96103 | http://www.orpha.net/ORDO/Orphanet_262923 |
Microtriplication 11q24.1 | http://www.orpha.net/ORDO/Orphanet_289522 | http://www.orpha.net/ORDO/Orphanet_262923 |
Partial duplication of the short arm of chromosome 11 | http://www.orpha.net/ORDO/Orphanet_262785 | http://www.orpha.net/ORDO/Orphanet_262653 |
Partial duplication of the long arm of chromosome 22 | http://www.orpha.net/ORDO/Orphanet_263004 | http://www.orpha.net/ORDO/Orphanet_98132 |
Distal trisomy 22q | http://www.orpha.net/ORDO/Orphanet_96109 | http://www.orpha.net/ORDO/Orphanet_263004 |
22q11.2 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_1727 | http://www.orpha.net/ORDO/Orphanet_263004 |
Distal 22q11.2 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_261337 | http://www.orpha.net/ORDO/Orphanet_263004 |
Autosomal uniparental disomy | http://www.orpha.net/ORDO/Orphanet_98152 | http://www.orpha.net/ORDO/Orphanet_98127 |
Uniparental disomy of maternal origin | http://www.orpha.net/ORDO/Orphanet_98153 | http://www.orpha.net/ORDO/Orphanet_98152 |
Maternal uniparental disomy of chromosome 16 | http://www.orpha.net/ORDO/Orphanet_96185 | http://www.orpha.net/ORDO/Orphanet_98153 |
Maternal uniparental disomy of chromosome 9 | http://www.orpha.net/ORDO/Orphanet_96183 | http://www.orpha.net/ORDO/Orphanet_98153 |
Maternal uniparental disomy of chromosome 6 | http://www.orpha.net/ORDO/Orphanet_96181 | http://www.orpha.net/ORDO/Orphanet_98153 |
Maternal uniparental disomy of chromosome 4 | http://www.orpha.net/ORDO/Orphanet_96180 | http://www.orpha.net/ORDO/Orphanet_98153 |
Maternal uniparental disomy of chromosome 22 | http://www.orpha.net/ORDO/Orphanet_96188 | http://www.orpha.net/ORDO/Orphanet_98153 |
Maternal uniparental disomy of chromosome 21 | http://www.orpha.net/ORDO/Orphanet_96187 | http://www.orpha.net/ORDO/Orphanet_98153 |
Maternal uniparental disomy of chromosome 20 | http://www.orpha.net/ORDO/Orphanet_96186 | http://www.orpha.net/ORDO/Orphanet_98153 |
Maternal uniparental disomy of chromosome 2 | http://www.orpha.net/ORDO/Orphanet_96179 | http://www.orpha.net/ORDO/Orphanet_98153 |
Maternal uniparental disomy of chromosome 13 | http://www.orpha.net/ORDO/Orphanet_97678 | http://www.orpha.net/ORDO/Orphanet_98153 |
Maternal uniparental disomy of chromosome 1 | http://www.orpha.net/ORDO/Orphanet_251009 | http://www.orpha.net/ORDO/Orphanet_98153 |
Uniparental disomy of paternal origin | http://www.orpha.net/ORDO/Orphanet_98154 | http://www.orpha.net/ORDO/Orphanet_98152 |
Paternal uniparental disomy of chromosome 21 | http://www.orpha.net/ORDO/Orphanet_96195 | http://www.orpha.net/ORDO/Orphanet_98154 |
Paternal uniparental disomy of chromosome 20 | http://www.orpha.net/ORDO/Orphanet_96194 | http://www.orpha.net/ORDO/Orphanet_98154 |
Paternal uniparental disomy of chromosome 7 | http://www.orpha.net/ORDO/Orphanet_96192 | http://www.orpha.net/ORDO/Orphanet_98154 |
Paternal uniparental disomy of chromosome 6 | http://www.orpha.net/ORDO/Orphanet_96191 | http://www.orpha.net/ORDO/Orphanet_98154 |
Paternal uniparental disomy of chromosome 5 | http://www.orpha.net/ORDO/Orphanet_96190 | http://www.orpha.net/ORDO/Orphanet_98154 |
Paternal uniparental disomy of chromosome 13 | http://www.orpha.net/ORDO/Orphanet_99324 | http://www.orpha.net/ORDO/Orphanet_98154 |
Paternal uniparental disomy of chromosome 1 | http://www.orpha.net/ORDO/Orphanet_251004 | http://www.orpha.net/ORDO/Orphanet_98154 |
Mosaic genome-wide paternal uniparental disomy | http://www.orpha.net/ORDO/Orphanet_329813 | http://www.orpha.net/ORDO/Orphanet_98152 |
Autosomal monosomy | http://www.orpha.net/ORDO/Orphanet_102020 | http://www.orpha.net/ORDO/Orphanet_98127 |
Ring chromosome | http://www.orpha.net/ORDO/Orphanet_363203 | http://www.orpha.net/ORDO/Orphanet_102020 |
Ring chromosome 9 | http://www.orpha.net/ORDO/Orphanet_96173 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 3 | http://www.orpha.net/ORDO/Orphanet_96172 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 2 | http://www.orpha.net/ORDO/Orphanet_96171 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 16 | http://www.orpha.net/ORDO/Orphanet_96178 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 15 | http://www.orpha.net/ORDO/Orphanet_96177 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 13 | http://www.orpha.net/ORDO/Orphanet_96176 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 11 | http://www.orpha.net/ORDO/Orphanet_96175 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 5 | http://www.orpha.net/ORDO/Orphanet_251043 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 20 | http://www.orpha.net/ORDO/Orphanet_1444 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 19 | http://www.orpha.net/ORDO/Orphanet_1443 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 22 | http://www.orpha.net/ORDO/Orphanet_1446 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 21 | http://www.orpha.net/ORDO/Orphanet_1445 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 6 | http://www.orpha.net/ORDO/Orphanet_1448 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 4 | http://www.orpha.net/ORDO/Orphanet_1447 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 7 | http://www.orpha.net/ORDO/Orphanet_1449 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 14 | http://www.orpha.net/ORDO/Orphanet_1440 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 18 | http://www.orpha.net/ORDO/Orphanet_1442 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 17 | http://www.orpha.net/ORDO/Orphanet_1441 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 1 | http://www.orpha.net/ORDO/Orphanet_1437 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 12 | http://www.orpha.net/ORDO/Orphanet_1439 | http://www.orpha.net/ORDO/Orphanet_363203 |
Ring chromosome 10 | http://www.orpha.net/ORDO/Orphanet_1438 | http://www.orpha.net/ORDO/Orphanet_363203 |
Partial autosomal monosomy | http://www.orpha.net/ORDO/Orphanet_98142 | http://www.orpha.net/ORDO/Orphanet_102020 |
Partial deletion of chromosome 12 | http://www.orpha.net/ORDO/Orphanet_282124 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the short arm of chromosome 12 | http://www.orpha.net/ORDO/Orphanet_316244 | http://www.orpha.net/ORDO/Orphanet_282124 |
Distal monosomy 12p | http://www.orpha.net/ORDO/Orphanet_280325 | http://www.orpha.net/ORDO/Orphanet_316244 |
Partial deletion of the long arm of chromosome 12 | http://www.orpha.net/ORDO/Orphanet_261821 | http://www.orpha.net/ORDO/Orphanet_282124 |
Non-distal monosomy 12q | http://www.orpha.net/ORDO/Orphanet_96160 | http://www.orpha.net/ORDO/Orphanet_261821 |
Distal monosomy 12q | http://www.orpha.net/ORDO/Orphanet_96149 | http://www.orpha.net/ORDO/Orphanet_261821 |
Partial deletion of the long arm of chromosome 22 | http://www.orpha.net/ORDO/Orphanet_262182 | http://www.orpha.net/ORDO/Orphanet_98142 |
Monosomy 22q13 | http://www.orpha.net/ORDO/Orphanet_48652 | http://www.orpha.net/ORDO/Orphanet_262182 |
Distal 22q11.2 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_261330 | http://www.orpha.net/ORDO/Orphanet_262182 |
Partial deletion of the long arm of chromosome 21 | http://www.orpha.net/ORDO/Orphanet_262173 | http://www.orpha.net/ORDO/Orphanet_98142 |
21q22.13q22.2 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_268261 | http://www.orpha.net/ORDO/Orphanet_262173 |
Partial deletion of the long arm of chromosome 13 | http://www.orpha.net/ORDO/Orphanet_262101 | http://www.orpha.net/ORDO/Orphanet_98142 |
Monosomy 13q34 | http://www.orpha.net/ORDO/Orphanet_96168 | http://www.orpha.net/ORDO/Orphanet_262101 |
Distal monosomy 13q | http://www.orpha.net/ORDO/Orphanet_1590 | http://www.orpha.net/ORDO/Orphanet_262101 |
Partial deletion of the long arm of chromosome 15 | http://www.orpha.net/ORDO/Orphanet_262119 | http://www.orpha.net/ORDO/Orphanet_98142 |
15q13.3 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_199318 | http://www.orpha.net/ORDO/Orphanet_262119 |
15q11.2 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_261183 | http://www.orpha.net/ORDO/Orphanet_262119 |
Partial deletion of the long arm of chromosome 14 | http://www.orpha.net/ORDO/Orphanet_262110 | http://www.orpha.net/ORDO/Orphanet_98142 |
Distal monosomy 14q | http://www.orpha.net/ORDO/Orphanet_96150 | http://www.orpha.net/ORDO/Orphanet_262110 |
14q22q23 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_264200 | http://www.orpha.net/ORDO/Orphanet_262110 |
Partial deletion of chromosome 1 | http://www.orpha.net/ORDO/Orphanet_261766 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 1 | http://www.orpha.net/ORDO/Orphanet_262001 | http://www.orpha.net/ORDO/Orphanet_261766 |
1q21.1 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_250989 | http://www.orpha.net/ORDO/Orphanet_262001 |
Distal monosomy 1q | http://www.orpha.net/ORDO/Orphanet_36367 | http://www.orpha.net/ORDO/Orphanet_262001 |
Partial deletion of the short arm of chromosome 1 | http://www.orpha.net/ORDO/Orphanet_261857 | http://www.orpha.net/ORDO/Orphanet_261766 |
Partial deletion of chromosome 2 | http://www.orpha.net/ORDO/Orphanet_261771 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 2 | http://www.orpha.net/ORDO/Orphanet_262010 | http://www.orpha.net/ORDO/Orphanet_261771 |
Partial deletion of the short arm of chromosome 2 | http://www.orpha.net/ORDO/Orphanet_261866 | http://www.orpha.net/ORDO/Orphanet_261771 |
Homozygous 2p21 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_369886 | http://www.orpha.net/ORDO/Orphanet_261866 |
Partial deletion of chromosome 3 | http://www.orpha.net/ORDO/Orphanet_261776 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 3 | http://www.orpha.net/ORDO/Orphanet_262019 | http://www.orpha.net/ORDO/Orphanet_261776 |
3q29 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_65286 | http://www.orpha.net/ORDO/Orphanet_262019 |
Partial deletion of the short arm of chromosome 3 | http://www.orpha.net/ORDO/Orphanet_261875 | http://www.orpha.net/ORDO/Orphanet_261776 |
Partial deletion of chromosome 4 | http://www.orpha.net/ORDO/Orphanet_261781 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 4 | http://www.orpha.net/ORDO/Orphanet_262029 | http://www.orpha.net/ORDO/Orphanet_261781 |
Distal monosomy 4q | http://www.orpha.net/ORDO/Orphanet_96145 | http://www.orpha.net/ORDO/Orphanet_262029 |
4q21 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_238750 | http://www.orpha.net/ORDO/Orphanet_262029 |
Partial deletion of the short arm of chromosome 4 | http://www.orpha.net/ORDO/Orphanet_261884 | http://www.orpha.net/ORDO/Orphanet_261781 |
Partial deletion of chromosome 5 | http://www.orpha.net/ORDO/Orphanet_261786 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 5 | http://www.orpha.net/ORDO/Orphanet_262038 | http://www.orpha.net/ORDO/Orphanet_261786 |
Partial deletion of the short arm of chromosome 5 | http://www.orpha.net/ORDO/Orphanet_261893 | http://www.orpha.net/ORDO/Orphanet_261786 |
Partial deletion of chromosome 6 | http://www.orpha.net/ORDO/Orphanet_261791 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 6 | http://www.orpha.net/ORDO/Orphanet_262047 | http://www.orpha.net/ORDO/Orphanet_261791 |
Partial deletion of the short arm of chromosome 6 | http://www.orpha.net/ORDO/Orphanet_261902 | http://www.orpha.net/ORDO/Orphanet_261791 |
Partial deletion of chromosome 7 | http://www.orpha.net/ORDO/Orphanet_261796 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 7 | http://www.orpha.net/ORDO/Orphanet_262056 | http://www.orpha.net/ORDO/Orphanet_261796 |
Distal 7q11.23 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_254351 | http://www.orpha.net/ORDO/Orphanet_262056 |
Distal monosomy 7q36 | http://www.orpha.net/ORDO/Orphanet_1636 | http://www.orpha.net/ORDO/Orphanet_262056 |
Partial deletion of the short arm of chromosome 7 | http://www.orpha.net/ORDO/Orphanet_261911 | http://www.orpha.net/ORDO/Orphanet_261796 |
Distal monosomy 7p | http://www.orpha.net/ORDO/Orphanet_96126 | http://www.orpha.net/ORDO/Orphanet_261911 |
Non-distal monosomy 7p | http://www.orpha.net/ORDO/Orphanet_96136 | http://www.orpha.net/ORDO/Orphanet_261911 |
Partial deletion of chromosome 8 | http://www.orpha.net/ORDO/Orphanet_261801 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 8 | http://www.orpha.net/ORDO/Orphanet_262065 | http://www.orpha.net/ORDO/Orphanet_261801 |
Mesomelia-synostoses syndrome | http://www.orpha.net/ORDO/Orphanet_2496 | http://www.orpha.net/ORDO/Orphanet_262065 |
Partial deletion of the short arm of chromosome 8 | http://www.orpha.net/ORDO/Orphanet_261920 | http://www.orpha.net/ORDO/Orphanet_261801 |
Partial deletion of chromosome 9 | http://www.orpha.net/ORDO/Orphanet_261806 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial monosomy of the long arm of chromosome 9 | http://www.orpha.net/ORDO/Orphanet_262074 | http://www.orpha.net/ORDO/Orphanet_261806 |
Monosomy 9q22.3 | http://www.orpha.net/ORDO/Orphanet_77301 | http://www.orpha.net/ORDO/Orphanet_262074 |
Partial deletion of the short arm of chromosome 9 | http://www.orpha.net/ORDO/Orphanet_261929 | http://www.orpha.net/ORDO/Orphanet_261806 |
Monosomy 9p | http://www.orpha.net/ORDO/Orphanet_261112 | http://www.orpha.net/ORDO/Orphanet_261929 |
Partial deletion of chromosome 10 | http://www.orpha.net/ORDO/Orphanet_261811 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial monosomy of the long arm of chromosome 10 | http://www.orpha.net/ORDO/Orphanet_262083 | http://www.orpha.net/ORDO/Orphanet_261811 |
Non-distal monosomy 10q | http://www.orpha.net/ORDO/Orphanet_1581 | http://www.orpha.net/ORDO/Orphanet_262083 |
Partial deletion of the short arm of chromosome 10 | http://www.orpha.net/ORDO/Orphanet_261938 | http://www.orpha.net/ORDO/Orphanet_261811 |
10p11.21p12.31 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_284169 | http://www.orpha.net/ORDO/Orphanet_261938 |
Distal monosomy 10p | http://www.orpha.net/ORDO/Orphanet_1580 | http://www.orpha.net/ORDO/Orphanet_261938 |
Partial deletion of chromosome 11 | http://www.orpha.net/ORDO/Orphanet_261816 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 11 | http://www.orpha.net/ORDO/Orphanet_262092 | http://www.orpha.net/ORDO/Orphanet_261816 |
Otodental syndrome | http://www.orpha.net/ORDO/Orphanet_2791 | http://www.orpha.net/ORDO/Orphanet_262092 |
Oculootodental syndrome | http://www.orpha.net/ORDO/Orphanet_99806 | http://www.orpha.net/ORDO/Orphanet_262092 |
Partial deletion of the short arm of chromosome 11 | http://www.orpha.net/ORDO/Orphanet_261947 | http://www.orpha.net/ORDO/Orphanet_261816 |
Partial deletion of chromosome 16 | http://www.orpha.net/ORDO/Orphanet_261826 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 16 | http://www.orpha.net/ORDO/Orphanet_262128 | http://www.orpha.net/ORDO/Orphanet_261826 |
Partial deletion of the short arm of chromosome 16 | http://www.orpha.net/ORDO/Orphanet_261956 | http://www.orpha.net/ORDO/Orphanet_261826 |
Proximal 16p11.2 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_261197 | http://www.orpha.net/ORDO/Orphanet_261956 |
Partial deletion of chromosome 18 | http://www.orpha.net/ORDO/Orphanet_261836 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 18 | http://www.orpha.net/ORDO/Orphanet_262146 | http://www.orpha.net/ORDO/Orphanet_261836 |
Partial deletion of the short arm of chromosome 18 | http://www.orpha.net/ORDO/Orphanet_261974 | http://www.orpha.net/ORDO/Orphanet_261836 |
Monosomy 18p | http://www.orpha.net/ORDO/Orphanet_1598 | http://www.orpha.net/ORDO/Orphanet_261974 |
Partial deletion of chromosome 17 | http://www.orpha.net/ORDO/Orphanet_261831 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 17 | http://www.orpha.net/ORDO/Orphanet_262137 | http://www.orpha.net/ORDO/Orphanet_261831 |
17q21.31 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_363958 | http://www.orpha.net/ORDO/Orphanet_262137 |
Distal monosomy 17q | http://www.orpha.net/ORDO/Orphanet_1597 | http://www.orpha.net/ORDO/Orphanet_262137 |
17q12 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_261265 | http://www.orpha.net/ORDO/Orphanet_262137 |
Partial monosomy of the short arm of chromosome 17 | http://www.orpha.net/ORDO/Orphanet_261965 | http://www.orpha.net/ORDO/Orphanet_261831 |
Distal 17p13.3 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_261257 | http://www.orpha.net/ORDO/Orphanet_261965 |
Partial deletion of chromosome 20 | http://www.orpha.net/ORDO/Orphanet_261846 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 20 | http://www.orpha.net/ORDO/Orphanet_262164 | http://www.orpha.net/ORDO/Orphanet_261846 |
Non-distal monosomy 20q | http://www.orpha.net/ORDO/Orphanet_96164 | http://www.orpha.net/ORDO/Orphanet_262164 |
Distal monosomy 20q | http://www.orpha.net/ORDO/Orphanet_96152 | http://www.orpha.net/ORDO/Orphanet_262164 |
Paternal 20q13.2q13.3 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_261304 | http://www.orpha.net/ORDO/Orphanet_262164 |
Partial monosomy of the short arm of chromosome 20 | http://www.orpha.net/ORDO/Orphanet_261992 | http://www.orpha.net/ORDO/Orphanet_261846 |
Partial deletion of chromosome 19 | http://www.orpha.net/ORDO/Orphanet_261841 | http://www.orpha.net/ORDO/Orphanet_98142 |
Partial deletion of the long arm of chromosome 19 | http://www.orpha.net/ORDO/Orphanet_262155 | http://www.orpha.net/ORDO/Orphanet_261841 |
19q13.11 microdeletion syndrome | http://www.orpha.net/ORDO/Orphanet_217346 | http://www.orpha.net/ORDO/Orphanet_262155 |
Partial deletion of the short arm of chromosome 19 | http://www.orpha.net/ORDO/Orphanet_261983 | http://www.orpha.net/ORDO/Orphanet_261841 |
Distal monosomy 19p13.3 | http://www.orpha.net/ORDO/Orphanet_96129 | http://www.orpha.net/ORDO/Orphanet_261983 |
Total autosomal monosomy | http://www.orpha.net/ORDO/Orphanet_98141 | http://www.orpha.net/ORDO/Orphanet_102020 |
Monosomy 22 | http://www.orpha.net/ORDO/Orphanet_96123 | http://www.orpha.net/ORDO/Orphanet_98141 |
Monosomy 21 | http://www.orpha.net/ORDO/Orphanet_574 | http://www.orpha.net/ORDO/Orphanet_98141 |
Complex chromosomal rearrangement | http://www.orpha.net/ORDO/Orphanet_263708 | http://www.orpha.net/ORDO/Orphanet_98127 |
Recombinant 8 syndrome | http://www.orpha.net/ORDO/Orphanet_96167 | http://www.orpha.net/ORDO/Orphanet_263708 |
Gonosome anomaly | http://www.orpha.net/ORDO/Orphanet_98155 | http://www.orpha.net/ORDO/Orphanet_68335 |
Gonosome structural anomaly | http://www.orpha.net/ORDO/Orphanet_98157 | http://www.orpha.net/ORDO/Orphanet_98155 |
Chromosome X structural anomaly | http://www.orpha.net/ORDO/Orphanet_98159 | http://www.orpha.net/ORDO/Orphanet_98157 |
Partial duplication of chromosome X | http://www.orpha.net/ORDO/Orphanet_263768 | http://www.orpha.net/ORDO/Orphanet_98159 |
Partial duplication of the short arm of chromosome X | http://www.orpha.net/ORDO/Orphanet_263775 | http://www.orpha.net/ORDO/Orphanet_263768 |
Microduplication Xp11.22-p11.23 syndrome | http://www.orpha.net/ORDO/Orphanet_217377 | http://www.orpha.net/ORDO/Orphanet_263775 |
Partial duplication of the long arm of chromosome X | http://www.orpha.net/ORDO/Orphanet_263783 | http://www.orpha.net/ORDO/Orphanet_263768 |
Distal Xq28 microduplication syndrome | http://www.orpha.net/ORDO/Orphanet_293939 | http://www.orpha.net/ORDO/Orphanet_263783 |
Partial deletion of chromosome X | http://www.orpha.net/ORDO/Orphanet_263726 | http://www.orpha.net/ORDO/Orphanet_98159 |
Partial deletion of the long arm of chromosome X | http://www.orpha.net/ORDO/Orphanet_263756 | http://www.orpha.net/ORDO/Orphanet_263726 |
Partial monosomy of the short arm of chromosome X | http://www.orpha.net/ORDO/Orphanet_263731 | http://www.orpha.net/ORDO/Orphanet_263726 |
Atypical Norrie disease due to monosomy Xp11.3 | http://www.orpha.net/ORDO/Orphanet_261501 | http://www.orpha.net/ORDO/Orphanet_263731 |
Uniparental disomy of chromosome X | http://www.orpha.net/ORDO/Orphanet_263793 | http://www.orpha.net/ORDO/Orphanet_98159 |
Maternal uniparental disomy of chromosome X | http://www.orpha.net/ORDO/Orphanet_261519 | http://www.orpha.net/ORDO/Orphanet_263793 |
Paternal uniparental disomy of chromosome X | http://www.orpha.net/ORDO/Orphanet_261524 | http://www.orpha.net/ORDO/Orphanet_263793 |
Chromosome Y structural anomaly | http://www.orpha.net/ORDO/Orphanet_98158 | http://www.orpha.net/ORDO/Orphanet_98157 |
Isochromosome Y | http://www.orpha.net/ORDO/Orphanet_96325 | http://www.orpha.net/ORDO/Orphanet_98158 |
Isochromosomy Yp | http://www.orpha.net/ORDO/Orphanet_98797 | http://www.orpha.net/ORDO/Orphanet_96325 |
Isochromosomy Yq | http://www.orpha.net/ORDO/Orphanet_98798 | http://www.orpha.net/ORDO/Orphanet_96325 |
Partial chromosome Y deletion | http://www.orpha.net/ORDO/Orphanet_1646 | http://www.orpha.net/ORDO/Orphanet_98158 |
Ring chromosome Y | http://www.orpha.net/ORDO/Orphanet_261529 | http://www.orpha.net/ORDO/Orphanet_98158 |
Gonosome number anomaly | http://www.orpha.net/ORDO/Orphanet_98156 | http://www.orpha.net/ORDO/Orphanet_98155 |
Mosaic variegated aneuploidy syndrome | http://www.orpha.net/ORDO/Orphanet_1052 | http://www.orpha.net/ORDO/Orphanet_68335 |
agenesis of corpus callosum, cardiac, ocular, and genital syndrome | http://purl.obolibrary.org/obo/MONDO_0030065 | http://www.ebi.ac.uk/efo/EFO_0000508 |
spondylometaphyseal dysplasia with corneal dystrophy | http://purl.obolibrary.org/obo/MONDO_0030074 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Mitchell syndrome | http://purl.obolibrary.org/obo/MONDO_0030073 | http://www.ebi.ac.uk/efo/EFO_0000508 |
retinitis pigmentosa 89 | http://purl.obolibrary.org/obo/MONDO_0030071 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Heyn-Sproul-Jackson syndrome | http://purl.obolibrary.org/obo/MONDO_0032882 | http://www.ebi.ac.uk/efo/EFO_0000508 |
ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies | http://purl.obolibrary.org/obo/MONDO_0032884 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Liang-Wang syndrome | http://purl.obolibrary.org/obo/MONDO_0032886 | http://www.ebi.ac.uk/efo/EFO_0000508 |
spondyloepimetaphyseal dysplasia, Isidor-Toutain type | http://purl.obolibrary.org/obo/MONDO_0032885 | http://www.ebi.ac.uk/efo/EFO_0000508 |
neuromuscular disease and ocular or auditory anomalies with or without seizures | http://purl.obolibrary.org/obo/MONDO_0032890 | http://www.ebi.ac.uk/efo/EFO_0000508 |
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | http://purl.obolibrary.org/obo/MONDO_0032893 | http://www.ebi.ac.uk/efo/EFO_0000508 |
structural brain anomalies with impaired intellectual development and craniosynostosis | http://purl.obolibrary.org/obo/MONDO_0032892 | http://www.ebi.ac.uk/efo/EFO_0000508 |
intellectual developmental disorder with hypotonia and behavioral abnormalities | http://purl.obolibrary.org/obo/MONDO_0032897 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Inherited cancer-predisposing syndrome | http://www.orpha.net/ORDO/Orphanet_140162 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Anotia | http://www.orpha.net/ORDO/Orphanet_93976 | http://www.orpha.net/ORDO/Orphanet_140162 |
Constitutional mismatch repair deficiency syndrome | http://www.orpha.net/ORDO/Orphanet_252202 | http://www.orpha.net/ORDO/Orphanet_140162 |
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome | http://www.orpha.net/ORDO/Orphanet_313846 | http://www.orpha.net/ORDO/Orphanet_140162 |
Blue rubber bleb nevus | http://www.orpha.net/ORDO/Orphanet_1059 | http://www.orpha.net/ORDO/Orphanet_140162 |
MITF-related melanoma and renal cell carcinoma predisposition syndrome | http://www.orpha.net/ORDO/Orphanet_293822 | http://www.orpha.net/ORDO/Orphanet_140162 |
Polymalformative genetic syndrome with increased risk of developing cancer | http://www.orpha.net/ORDO/Orphanet_183422 | http://www.orpha.net/ORDO/Orphanet_140162 |
Hemihypertrophy | http://www.orpha.net/ORDO/Orphanet_2128 | http://www.orpha.net/ORDO/Orphanet_183422 |
Megalencephaly-capillary malformation-polymicrogyria syndrome | http://www.orpha.net/ORDO/Orphanet_60040 | http://www.orpha.net/ORDO/Orphanet_183422 |
Bazex syndrome | http://www.orpha.net/ORDO/Orphanet_166113 | http://www.orpha.net/ORDO/Orphanet_183422 |
Oligodontia - cancer predisposition syndrome | http://www.orpha.net/ORDO/Orphanet_300576 | http://www.orpha.net/ORDO/Orphanet_183422 |
Inherited renal cancer-predisposing syndrome | http://www.orpha.net/ORDO/Orphanet_319328 | http://www.orpha.net/ORDO/Orphanet_140162 |
encephalitis/encephalopathy, mild, with reversible myelin vacuolization | http://purl.obolibrary.org/obo/MONDO_0020853 | http://www.ebi.ac.uk/efo/EFO_0000508 |
oculopharyngeal myopathy with leukoencephalopathy 1 | http://purl.obolibrary.org/obo/MONDO_0032843 | http://www.ebi.ac.uk/efo/EFO_0000508 |
periodic fever, immunodeficiency, and thrombocytopenia syndrome | http://purl.obolibrary.org/obo/MONDO_0007883 | http://www.ebi.ac.uk/efo/EFO_0000508 |
keratitis fugax hereditaria | http://purl.obolibrary.org/obo/MONDO_0007849 | http://www.ebi.ac.uk/efo/EFO_0000508 |
fused mandibular incisors | http://purl.obolibrary.org/obo/MONDO_0007820 | http://www.ebi.ac.uk/efo/EFO_0000508 |
preterm premature rupture of the membranes | http://purl.obolibrary.org/obo/MONDO_0012511 | http://www.ebi.ac.uk/efo/EFO_0000508 |
methylmalonic aciduria and homocystinuria type cblG | http://www.ebi.ac.uk/efo/EFO_0005597 | http://www.ebi.ac.uk/efo/EFO_0000508 |
methylmalonic aciduria and homocystinuria type cblE | http://www.ebi.ac.uk/efo/EFO_0005568 | http://www.ebi.ac.uk/efo/EFO_0000508 |
short QT syndrome | http://purl.obolibrary.org/obo/MONDO_0000453 | http://www.ebi.ac.uk/efo/EFO_0000508 |
autosomal genetic disease | http://purl.obolibrary.org/obo/MONDO_0000429 | http://www.ebi.ac.uk/efo/EFO_0000508 |
autosomal dominant disease | http://purl.obolibrary.org/obo/MONDO_0000426 | http://purl.obolibrary.org/obo/MONDO_0000429 |
monilethrix | http://purl.obolibrary.org/obo/MONDO_0008009 | http://purl.obolibrary.org/obo/MONDO_0000426 |
autosomal dominant centronuclear myopathy | http://purl.obolibrary.org/obo/MONDO_0008048 | http://purl.obolibrary.org/obo/MONDO_0000426 |
epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | http://purl.obolibrary.org/obo/MONDO_0015006 | http://purl.obolibrary.org/obo/MONDO_0000426 |
Carney complex | http://purl.obolibrary.org/obo/MONDO_0015285 | http://purl.obolibrary.org/obo/MONDO_0000426 |
Carney complex, type 1 | http://purl.obolibrary.org/obo/MONDO_0008057 | http://purl.obolibrary.org/obo/MONDO_0015285 |
Carney complex-trismus-pseudocamptodactyly syndrome | http://www.orpha.net/ORDO/Orphanet_319340 | http://purl.obolibrary.org/obo/MONDO_0015285 |
isolated congenital adermatoglyphia | http://purl.obolibrary.org/obo/MONDO_0007619 | http://purl.obolibrary.org/obo/MONDO_0000426 |
hyperkeratosis-hyperpigmentation syndrome | http://purl.obolibrary.org/obo/MONDO_0007757 | http://purl.obolibrary.org/obo/MONDO_0000426 |
autosomal dominant epidermolytic ichthyosis | http://purl.obolibrary.org/obo/MONDO_0020702 | http://purl.obolibrary.org/obo/MONDO_0000426 |
annular epidermolytic ichthyosis | http://purl.obolibrary.org/obo/MONDO_0011870 | http://purl.obolibrary.org/obo/MONDO_0020702 |
intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies | http://www.ebi.ac.uk/efo/EFO_0010630 | http://purl.obolibrary.org/obo/MONDO_0000426 |
megabladder, congenital | http://www.ebi.ac.uk/efo/EFO_0010655 | http://purl.obolibrary.org/obo/MONDO_0000426 |
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | http://www.ebi.ac.uk/efo/EFO_0010568 | http://purl.obolibrary.org/obo/MONDO_0000426 |
intellectual developmental disorder 60 with seizures | http://www.ebi.ac.uk/efo/EFO_0010566 | http://purl.obolibrary.org/obo/MONDO_0000426 |
neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | http://www.ebi.ac.uk/efo/EFO_0010563 | http://purl.obolibrary.org/obo/MONDO_0000426 |
epilepsy, early-onset, with or without developmental delay | http://www.ebi.ac.uk/efo/EFO_0010739 | http://purl.obolibrary.org/obo/MONDO_0000426 |
autoinflammation with episodic fever and lymphadenopathy | http://www.ebi.ac.uk/efo/EFO_0010737 | http://purl.obolibrary.org/obo/MONDO_0000426 |
Diets-Jongmans syndrome | http://www.ebi.ac.uk/efo/EFO_0010740 | http://purl.obolibrary.org/obo/MONDO_0000426 |
autosomal dominant hypophosphatemic rickets | http://purl.obolibrary.org/obo/MONDO_0008660 | http://purl.obolibrary.org/obo/MONDO_0000426 |
severe achondroplasia-developmental delay-acanthosis nigricans syndrome | http://purl.obolibrary.org/obo/MONDO_0014658 | http://purl.obolibrary.org/obo/MONDO_0000426 |
hypopigmentation-punctate palmoplantar keratoderma syndrome | http://purl.obolibrary.org/obo/MONDO_0014227 | http://purl.obolibrary.org/obo/MONDO_0000426 |
brachydactyly-syndactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0012544 | http://purl.obolibrary.org/obo/MONDO_0000429 |
autosomal recessive disease | http://www.ebi.ac.uk/efo/EFO_1000017 | http://purl.obolibrary.org/obo/MONDO_0000429 |
dacryocystitis-osteopoikilosis syndrome | http://purl.obolibrary.org/obo/MONDO_0008158 | http://www.ebi.ac.uk/efo/EFO_1000017 |
autosomal recessive hypophosphatemic rickets | http://purl.obolibrary.org/obo/MONDO_0017324 | http://www.ebi.ac.uk/efo/EFO_1000017 |
ABCD syndrome | http://purl.obolibrary.org/obo/MONDO_0010895 | http://www.ebi.ac.uk/efo/EFO_1000017 |
Cystic fibrosis | http://www.orpha.net/ORDO/Orphanet_586 | http://www.ebi.ac.uk/efo/EFO_1000017 |
isolated hyperchlorhidrosis | http://purl.obolibrary.org/obo/MONDO_0007747 | http://www.ebi.ac.uk/efo/EFO_1000017 |
autosomal recessive congenital ichthyosis | http://purl.obolibrary.org/obo/MONDO_0017265 | http://www.ebi.ac.uk/efo/EFO_1000017 |
autosomal recessive congenital ichthyosis 11 | http://purl.obolibrary.org/obo/MONDO_0011218 | http://purl.obolibrary.org/obo/MONDO_0017265 |
exfoliative ichthyosis | http://purl.obolibrary.org/obo/MONDO_0017339 | http://purl.obolibrary.org/obo/MONDO_0017265 |
superficial epidermolytic ichthyosis | http://purl.obolibrary.org/obo/MONDO_0007813 | http://purl.obolibrary.org/obo/MONDO_0017339 |
bathing suit ichthyosis | http://purl.obolibrary.org/obo/MONDO_0015085 | http://purl.obolibrary.org/obo/MONDO_0017265 |
congenital non-bullous ichthyosiform erythroderma | http://purl.obolibrary.org/obo/MONDO_0019306 | http://purl.obolibrary.org/obo/MONDO_0017265 |
acral self-healing collodion baby | http://purl.obolibrary.org/obo/MONDO_0017268 | http://purl.obolibrary.org/obo/MONDO_0017265 |
self-healing collodion baby | http://purl.obolibrary.org/obo/MONDO_0017267 | http://purl.obolibrary.org/obo/MONDO_0017265 |
Kahrizi syndrome | http://purl.obolibrary.org/obo/MONDO_0012991 | http://www.ebi.ac.uk/efo/EFO_1000017 |
SCN4A-related myopathy, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0100121 | http://www.ebi.ac.uk/efo/EFO_1000017 |
neurodegeneration, childhood-onset, with cerebellar atrophy | http://www.ebi.ac.uk/efo/EFO_0010256 | http://www.ebi.ac.uk/efo/EFO_1000017 |
metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | http://www.ebi.ac.uk/efo/EFO_0010255 | http://www.ebi.ac.uk/efo/EFO_1000017 |
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | http://www.ebi.ac.uk/efo/EFO_0010262 | http://www.ebi.ac.uk/efo/EFO_1000017 |
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | http://www.ebi.ac.uk/efo/EFO_0010631 | http://www.ebi.ac.uk/efo/EFO_1000017 |
spastic tetraplegia and axial hypotonia, progressive | http://www.ebi.ac.uk/efo/EFO_0010567 | http://www.ebi.ac.uk/efo/EFO_1000017 |
neurodevelopmental disorder with cerebellar hypoplasia and spasticity | http://www.ebi.ac.uk/efo/EFO_0010562 | http://www.ebi.ac.uk/efo/EFO_1000017 |
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly | http://www.ebi.ac.uk/efo/EFO_0010560 | http://www.ebi.ac.uk/efo/EFO_1000017 |
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies | http://www.ebi.ac.uk/efo/EFO_0010561 | http://www.ebi.ac.uk/efo/EFO_1000017 |
retinal dystrophy with leukodystrophy | http://www.ebi.ac.uk/efo/EFO_0010738 | http://www.ebi.ac.uk/efo/EFO_1000017 |
leukoencephalopathy-palmoplantar keratoderma syndrome | http://purl.obolibrary.org/obo/MONDO_0016545 | http://www.ebi.ac.uk/efo/EFO_1000017 |
familial juvenile hyperuricemic nephropathy | http://purl.obolibrary.org/obo/MONDO_0000608 | http://www.ebi.ac.uk/efo/EFO_0000508 |
coronary artery disease, autosomal dominant 2 | http://purl.obolibrary.org/obo/MONDO_0012586 | http://www.ebi.ac.uk/efo/EFO_0000508 |
taurodontism | http://purl.obolibrary.org/obo/MONDO_0010098 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Mungan syndrome | http://purl.obolibrary.org/obo/MONDO_0012657 | http://www.ebi.ac.uk/efo/EFO_0000508 |
hypertensive nephropathy | http://purl.obolibrary.org/obo/MONDO_0024633 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Rare genetic systemic or rheumatologic disease | http://www.orpha.net/ORDO/Orphanet_271870 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Autosomal dominant beta2-microglobulinic amyloidosis | http://www.orpha.net/ORDO/Orphanet_314652 | http://www.orpha.net/ORDO/Orphanet_271870 |
Hypoplasminogenemia | http://www.orpha.net/ORDO/Orphanet_722 | http://www.orpha.net/ORDO/Orphanet_271870 |
Intermittent hydrarthrosis | http://www.orpha.net/ORDO/Orphanet_329967 | http://www.orpha.net/ORDO/Orphanet_271870 |
Progeria-associated arthropathy | http://www.orpha.net/ORDO/Orphanet_99706 | http://www.orpha.net/ORDO/Orphanet_271870 |
Proteasome disability syndrome | http://www.orpha.net/ORDO/Orphanet_324977 | http://www.orpha.net/ORDO/Orphanet_271870 |
Hereditary periodic fever syndrome | http://www.orpha.net/ORDO/Orphanet_324924 | http://www.orpha.net/ORDO/Orphanet_271870 |
NLRP12-associated hereditary periodic fever syndrome | http://www.orpha.net/ORDO/Orphanet_247868 | http://www.orpha.net/ORDO/Orphanet_324924 |
Progeroid and marfanoid aspect-lipodystrophy syndrome | http://www.orpha.net/ORDO/Orphanet_300382 | http://www.orpha.net/ORDO/Orphanet_271870 |
Autosomal recessive systemic lupus erythematosus | http://www.orpha.net/ORDO/Orphanet_300345 | http://www.orpha.net/ORDO/Orphanet_271870 |
dwarfism, intellectual disability, and eye abnormality | http://purl.obolibrary.org/obo/MONDO_0009128 | http://www.ebi.ac.uk/efo/EFO_0000508 |
granulocytopenia with immunoglobulin abnormality | http://purl.obolibrary.org/obo/MONDO_0009305 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Compton-North congenital myopathy | http://purl.obolibrary.org/obo/MONDO_0012929 | http://www.ebi.ac.uk/efo/EFO_0000508 |
skeletal defects, genital hypoplasia, and intellectual disability | http://purl.obolibrary.org/obo/MONDO_0012909 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Uruguay Faciocardiomusculoskeletal syndrome | http://purl.obolibrary.org/obo/MONDO_0010292 | http://www.ebi.ac.uk/efo/EFO_0000508 |
ghosal hematodiaphyseal dysplasia | http://purl.obolibrary.org/obo/MONDO_0009274 | http://www.ebi.ac.uk/efo/EFO_0000508 |
hyperostosis corticalis generalisata | http://purl.obolibrary.org/obo/MONDO_0009395 | http://www.ebi.ac.uk/efo/EFO_0000508 |
hydroxyprolinemia | http://purl.obolibrary.org/obo/MONDO_0009374 | http://www.ebi.ac.uk/efo/EFO_0000508 |
mandibulofacial dysostosis with mental deficiency | http://purl.obolibrary.org/obo/MONDO_0009559 | http://www.ebi.ac.uk/efo/EFO_0000508 |
metabolic myopathy due to lactate transporter defect | http://purl.obolibrary.org/obo/MONDO_0009501 | http://www.ebi.ac.uk/efo/EFO_0000508 |
lactic aciduria due to D-lactic acid | http://purl.obolibrary.org/obo/MONDO_0009505 | http://www.ebi.ac.uk/efo/EFO_0000508 |
BAFopathy | http://purl.obolibrary.org/obo/MONDO_0700120 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Dias-Logan syndrome | http://purl.obolibrary.org/obo/MONDO_0014914 | http://purl.obolibrary.org/obo/MONDO_0700120 |
spondylolisthesis | http://www.ebi.ac.uk/efo/EFO_0007493 | http://www.ebi.ac.uk/efo/EFO_0000508 |
familial abdominal aortic aneurysm | http://purl.obolibrary.org/obo/MONDO_0007031 | http://www.ebi.ac.uk/efo/EFO_0000508 |
microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | http://purl.obolibrary.org/obo/MONDO_0009633 | http://www.ebi.ac.uk/efo/EFO_0000508 |
microcephaly-micromelia syndrome | http://purl.obolibrary.org/obo/MONDO_0009619 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Genetic hyperferritinemia without iron overload | http://www.orpha.net/ORDO/Orphanet_254704 | http://www.ebi.ac.uk/efo/EFO_0000508 |
short stature with microcephaly and distinctive facies | http://purl.obolibrary.org/obo/MONDO_0014347 | http://www.ebi.ac.uk/efo/EFO_0000508 |
primary hyperoxaluria | http://purl.obolibrary.org/obo/MONDO_0002474 | http://www.ebi.ac.uk/efo/EFO_0000508 |
primary hyperoxaluria type 3 | http://purl.obolibrary.org/obo/MONDO_0013327 | http://purl.obolibrary.org/obo/MONDO_0002474 |
primary hyperoxaluria type 2 | http://purl.obolibrary.org/obo/MONDO_0009824 | http://purl.obolibrary.org/obo/MONDO_0002474 |
kallikrein, decreased urinary activity of | http://purl.obolibrary.org/obo/MONDO_0014415 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Rare genetic developmental defect during embryogenesis | http://www.orpha.net/ORDO/Orphanet_183530 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Familial omphalocele syndrome with facial dysmorphism | http://www.orpha.net/ORDO/Orphanet_280403 | http://www.orpha.net/ORDO/Orphanet_183530 |
Malformation syndrome with hamartosis | http://www.orpha.net/ORDO/Orphanet_98196 | http://www.orpha.net/ORDO/Orphanet_183530 |
Angioosteohypertrophic syndrome | http://www.orpha.net/ORDO/Orphanet_2346 | http://www.orpha.net/ORDO/Orphanet_98196 |
Klippel-Trénaunay syndrome | http://www.orpha.net/ORDO/Orphanet_90308 | http://www.orpha.net/ORDO/Orphanet_2346 |
Rare genetic bone development disorder | http://www.orpha.net/ORDO/Orphanet_404584 | http://www.orpha.net/ORDO/Orphanet_183530 |
Dysostosis of genetic origin | http://www.orpha.net/ORDO/Orphanet_404568 | http://www.orpha.net/ORDO/Orphanet_404584 |
Congenital pseudoarthrosis of clavicle | http://www.orpha.net/ORDO/Orphanet_66630 | http://www.orpha.net/ORDO/Orphanet_404568 |
Dysostosis of genetic origin with limb anomaly as a major feature | http://www.orpha.net/ORDO/Orphanet_404571 | http://www.orpha.net/ORDO/Orphanet_404568 |
Syndrome with brachydactyly | http://www.orpha.net/ORDO/Orphanet_69028 | http://www.orpha.net/ORDO/Orphanet_404571 |
Hand-foot-genital syndrome | http://www.orpha.net/ORDO/Orphanet_2438 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly type B2 | http://www.orpha.net/ORDO/Orphanet_140908 | http://www.orpha.net/ORDO/Orphanet_69028 |
Ulnar/fibula ray defect - brachydactyly | http://www.orpha.net/ORDO/Orphanet_52056 | http://www.orpha.net/ORDO/Orphanet_69028 |
Paraplegia - brachydactyly - cone-shaped epiphysis | http://www.orpha.net/ORDO/Orphanet_2823 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly type A4 | http://www.orpha.net/ORDO/Orphanet_93394 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly type A2 | http://www.orpha.net/ORDO/Orphanet_93396 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly type A7 | http://www.orpha.net/ORDO/Orphanet_93397 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly type A5 | http://www.orpha.net/ORDO/Orphanet_93389 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly type A6 | http://www.orpha.net/ORDO/Orphanet_93382 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly type B | http://www.orpha.net/ORDO/Orphanet_93383 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly type C | http://www.orpha.net/ORDO/Orphanet_93384 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly type E | http://www.orpha.net/ORDO/Orphanet_93387 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly type A1 | http://www.orpha.net/ORDO/Orphanet_93388 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachymorphism - onychodysplasia - dysphalangism | http://www.orpha.net/ORDO/Orphanet_1292 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachytelephalangy - dysmorphism - Kallmann syndrome | http://www.orpha.net/ORDO/Orphanet_1295 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly - preaxial hallux varus | http://www.orpha.net/ORDO/Orphanet_1278 | http://www.orpha.net/ORDO/Orphanet_69028 |
Brachydactyly - elbow wrist dysplasia | http://www.orpha.net/ORDO/Orphanet_1275 | http://www.orpha.net/ORDO/Orphanet_69028 |
Thumb stiffness - brachydactyly - intellectual disability | http://www.orpha.net/ORDO/Orphanet_1078 | http://www.orpha.net/ORDO/Orphanet_69028 |
Familial digital arthropathy-brachydactyly | http://www.orpha.net/ORDO/Orphanet_85169 | http://www.orpha.net/ORDO/Orphanet_69028 |
Acrofacial dysostosis | http://www.orpha.net/ORDO/Orphanet_364574 | http://www.orpha.net/ORDO/Orphanet_69028 |
Acrofacial dysostosis, Kennedy-Teebi type | http://www.orpha.net/ORDO/Orphanet_64542 | http://www.orpha.net/ORDO/Orphanet_364574 |
Acrocraniofacial dysostosis | http://www.orpha.net/ORDO/Orphanet_949 | http://www.orpha.net/ORDO/Orphanet_364574 |
Acro-fronto-facio-nasal dysostosis | http://www.orpha.net/ORDO/Orphanet_1784 | http://www.orpha.net/ORDO/Orphanet_364574 |
Acrofacial dysostosis, Palagonia type | http://www.orpha.net/ORDO/Orphanet_1787 | http://www.orpha.net/ORDO/Orphanet_364574 |
Acromelic frontonasal dysplasia | http://www.orpha.net/ORDO/Orphanet_1827 | http://www.orpha.net/ORDO/Orphanet_364574 |
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | http://www.ebi.ac.uk/efo/EFO_0009031 | http://www.orpha.net/ORDO/Orphanet_69028 |
Camptobrachydactyly | http://www.orpha.net/ORDO/Orphanet_1319 | http://www.orpha.net/ORDO/Orphanet_69028 |
Heart-hand syndrome | http://www.orpha.net/ORDO/Orphanet_228184 | http://www.orpha.net/ORDO/Orphanet_404571 |
Dysostosis with combined reduction defects of upper and lower limbs | http://www.orpha.net/ORDO/Orphanet_294957 | http://www.orpha.net/ORDO/Orphanet_404571 |
Femur-fibula-ulna complex | http://www.orpha.net/ORDO/Orphanet_2019 | http://www.orpha.net/ORDO/Orphanet_294957 |
Tibial aplasia - ectrodactyly | http://www.orpha.net/ORDO/Orphanet_3329 | http://www.orpha.net/ORDO/Orphanet_294957 |
Hypoplastic tibiae - postaxial polydactyly | http://www.orpha.net/ORDO/Orphanet_3332 | http://www.orpha.net/ORDO/Orphanet_294957 |
Radial deficiency - tibial hypoplasia | http://www.orpha.net/ORDO/Orphanet_1121 | http://www.orpha.net/ORDO/Orphanet_294957 |
Ulnar hypoplasia - split foot | http://www.orpha.net/ORDO/Orphanet_1122 | http://www.orpha.net/ORDO/Orphanet_294957 |
Fibular aplasia - ectrodactyly | http://www.orpha.net/ORDO/Orphanet_1118 | http://www.orpha.net/ORDO/Orphanet_294957 |
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy | http://www.orpha.net/ORDO/Orphanet_294959 | http://www.orpha.net/ORDO/Orphanet_404571 |
Hallux varus - preaxial polysyndactyly | http://www.orpha.net/ORDO/Orphanet_2110 | http://www.orpha.net/ORDO/Orphanet_294959 |
Syndactyly - telecanthus - anogenital and renal malformations | http://www.orpha.net/ORDO/Orphanet_140952 | http://www.orpha.net/ORDO/Orphanet_294959 |
Laurin-Sandrow syndrome | http://www.orpha.net/ORDO/Orphanet_2378 | http://www.orpha.net/ORDO/Orphanet_294959 |
Orofaciodigital syndrome | http://www.orpha.net/ORDO/Orphanet_140997 | http://www.orpha.net/ORDO/Orphanet_294959 |
Orofaciodigital syndrome type 14 | http://www.orpha.net/ORDO/Orphanet_369902 | http://www.orpha.net/ORDO/Orphanet_140997 |
Orofaciodigital syndrome type 11 | http://www.orpha.net/ORDO/Orphanet_141000 | http://www.orpha.net/ORDO/Orphanet_140997 |
Orofaciodigital syndrome type 9 | http://www.orpha.net/ORDO/Orphanet_141007 | http://www.orpha.net/ORDO/Orphanet_140997 |
Orofaciodigital syndrome type 13 | http://www.orpha.net/ORDO/Orphanet_141330 | http://www.orpha.net/ORDO/Orphanet_140997 |
Orofaciodigital syndrome type 12 | http://www.orpha.net/ORDO/Orphanet_141327 | http://www.orpha.net/ORDO/Orphanet_140997 |
Acropectorovertebral dysplasia | http://www.orpha.net/ORDO/Orphanet_957 | http://www.orpha.net/ORDO/Orphanet_294959 |
Polydactyly-myopia syndrome | http://www.orpha.net/ORDO/Orphanet_2917 | http://www.orpha.net/ORDO/Orphanet_294959 |
Triphalangeal thumb - polysyndactyly syndrome | http://www.orpha.net/ORDO/Orphanet_2950 | http://www.orpha.net/ORDO/Orphanet_294959 |
Triphalangeal thumbs - brachyectrodactyly | http://www.orpha.net/ORDO/Orphanet_2947 | http://www.orpha.net/ORDO/Orphanet_294959 |
Crossed polysyndactyly | http://www.orpha.net/ORDO/Orphanet_2935 | http://www.orpha.net/ORDO/Orphanet_294959 |
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome | http://www.orpha.net/ORDO/Orphanet_369979 | http://www.orpha.net/ORDO/Orphanet_294959 |
Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes | http://www.orpha.net/ORDO/Orphanet_357332 | http://www.orpha.net/ORDO/Orphanet_294959 |
Absent tibia - polydactyly - arachnoid cyst | http://www.orpha.net/ORDO/Orphanet_3328 | http://www.orpha.net/ORDO/Orphanet_294959 |
Eyebrow duplication - syndactyly | http://www.orpha.net/ORDO/Orphanet_3172 | http://www.orpha.net/ORDO/Orphanet_294959 |
Say-Field-Coldwell syndrome | http://www.orpha.net/ORDO/Orphanet_3133 | http://www.orpha.net/ORDO/Orphanet_294959 |
Symphalangism with multiple anomalies of hands and feet | http://www.orpha.net/ORDO/Orphanet_3246 | http://www.orpha.net/ORDO/Orphanet_294959 |
Cenani-Lenz syndrome | http://www.orpha.net/ORDO/Orphanet_3258 | http://www.orpha.net/ORDO/Orphanet_294959 |
Syndactyly-polydactyly-ear lobe syndrome | http://www.orpha.net/ORDO/Orphanet_3259 | http://www.orpha.net/ORDO/Orphanet_294959 |
Aphalangy - syndactyly - microcephaly | http://www.orpha.net/ORDO/Orphanet_1113 | http://www.orpha.net/ORDO/Orphanet_294959 |
Scalp defects - postaxial polydactyly | http://www.orpha.net/ORDO/Orphanet_1003 | http://www.orpha.net/ORDO/Orphanet_294959 |
Acro-pectoral syndrome | http://www.orpha.net/ORDO/Orphanet_85203 | http://www.orpha.net/ORDO/Orphanet_294959 |
Mirror polydactyly - vertebral segmentation - limbs defects | http://www.orpha.net/ORDO/Orphanet_3004 | http://www.orpha.net/ORDO/Orphanet_294959 |
Dandy-Walker malformation - postaxial polydactyly | http://www.orpha.net/ORDO/Orphanet_1566 | http://www.orpha.net/ORDO/Orphanet_294959 |
Fibular dimelia - diplopodia | http://www.orpha.net/ORDO/Orphanet_1757 | http://www.orpha.net/ORDO/Orphanet_294959 |
Craniosynostosis, Philadelphia type | http://www.orpha.net/ORDO/Orphanet_1527 | http://www.orpha.net/ORDO/Orphanet_294959 |
Ectrodactyly - polydactyly | http://www.orpha.net/ORDO/Orphanet_1892 | http://www.orpha.net/ORDO/Orphanet_294959 |
Joint formation defects | http://www.orpha.net/ORDO/Orphanet_294949 | http://www.orpha.net/ORDO/Orphanet_404571 |
Humero-ulnar synostosis | http://www.orpha.net/ORDO/Orphanet_94056 | http://www.orpha.net/ORDO/Orphanet_294949 |
Humero-ulnar synostosis, unilateral | http://www.orpha.net/ORDO/Orphanet_295213 | http://www.orpha.net/ORDO/Orphanet_94056 |
Humero-ulnar synostosis, bilateral | http://www.orpha.net/ORDO/Orphanet_295215 | http://www.orpha.net/ORDO/Orphanet_94056 |
Distal symphalangism | http://www.orpha.net/ORDO/Orphanet_3248 | http://www.orpha.net/ORDO/Orphanet_294949 |
Humero-radial synostosis | http://www.orpha.net/ORDO/Orphanet_3265 | http://www.orpha.net/ORDO/Orphanet_294949 |
Humero-radial synostosis, unilateral | http://www.orpha.net/ORDO/Orphanet_295209 | http://www.orpha.net/ORDO/Orphanet_3265 |
Humero-radial synostosis, bilateral | http://www.orpha.net/ORDO/Orphanet_295211 | http://www.orpha.net/ORDO/Orphanet_3265 |
Humero-radio-ulnar synostosis | http://www.orpha.net/ORDO/Orphanet_3266 | http://www.orpha.net/ORDO/Orphanet_294949 |
Humero-radio-ulnar synostosis, unilateral | http://www.orpha.net/ORDO/Orphanet_295205 | http://www.orpha.net/ORDO/Orphanet_3266 |
Humero-radio-ulnar synostosis, bilateral | http://www.orpha.net/ORDO/Orphanet_295207 | http://www.orpha.net/ORDO/Orphanet_3266 |
Tibio-fibular synostosis | http://www.orpha.net/ORDO/Orphanet_295028 | http://www.orpha.net/ORDO/Orphanet_294949 |
Genetic syndrome with limb reduction defects | http://www.orpha.net/ORDO/Orphanet_404574 | http://www.orpha.net/ORDO/Orphanet_404571 |
Splenogonadal fusion - limb defects - micrognathia | http://www.orpha.net/ORDO/Orphanet_2063 | http://www.orpha.net/ORDO/Orphanet_404574 |
Tetramelic monodactyly | http://www.orpha.net/ORDO/Orphanet_2564 | http://www.orpha.net/ORDO/Orphanet_404574 |
Ulna hypoplasia - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2249 | http://www.orpha.net/ORDO/Orphanet_404574 |
Absence deformity of leg - cataract | http://www.orpha.net/ORDO/Orphanet_2310 | http://www.orpha.net/ORDO/Orphanet_404574 |
Absent tibia - polydactyly | http://www.orpha.net/ORDO/Orphanet_988 | http://www.orpha.net/ORDO/Orphanet_404574 |
Hypoglossia - hypodactyly | http://www.orpha.net/ORDO/Orphanet_989 | http://www.orpha.net/ORDO/Orphanet_404574 |
Postaxial tetramelic oligodactyly | http://www.orpha.net/ORDO/Orphanet_2730 | http://www.orpha.net/ORDO/Orphanet_404574 |
Pelvis-shoulder dysplasia | http://www.orpha.net/ORDO/Orphanet_2839 | http://www.orpha.net/ORDO/Orphanet_404574 |
Phocomelia, Schinzel type | http://www.orpha.net/ORDO/Orphanet_2879 | http://www.orpha.net/ORDO/Orphanet_404574 |
Pelviscapular dysplasia | http://www.orpha.net/ORDO/Orphanet_93333 | http://www.orpha.net/ORDO/Orphanet_404574 |
Tetraamelia - multiple malformations | http://www.orpha.net/ORDO/Orphanet_3301 | http://www.orpha.net/ORDO/Orphanet_404574 |
Humerus trochlea aplasia | http://www.orpha.net/ORDO/Orphanet_3383 | http://www.orpha.net/ORDO/Orphanet_404574 |
Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis | http://www.orpha.net/ORDO/Orphanet_1112 | http://www.orpha.net/ORDO/Orphanet_404574 |
Autosomal recessive amelia | http://www.orpha.net/ORDO/Orphanet_1027 | http://www.orpha.net/ORDO/Orphanet_404574 |
RAPADILINO syndrome | http://www.orpha.net/ORDO/Orphanet_3021 | http://www.orpha.net/ORDO/Orphanet_404574 |
Radius absent - anogenital anomalies | http://www.orpha.net/ORDO/Orphanet_3016 | http://www.orpha.net/ORDO/Orphanet_404574 |
Radio-renal syndrome | http://www.orpha.net/ORDO/Orphanet_3015 | http://www.orpha.net/ORDO/Orphanet_404574 |
Mammary-digital-nail syndrome | http://www.orpha.net/ORDO/Orphanet_238744 | http://www.orpha.net/ORDO/Orphanet_404574 |
Shoulder and thorax deformity - congenital heart disease | http://www.orpha.net/ORDO/Orphanet_1940 | http://www.orpha.net/ORDO/Orphanet_404574 |
Femoral-facial syndrome | http://www.orpha.net/ORDO/Orphanet_1988 | http://www.orpha.net/ORDO/Orphanet_404574 |
Lethal faciocardiomelic dysplasia | http://www.orpha.net/ORDO/Orphanet_1972 | http://www.orpha.net/ORDO/Orphanet_404574 |
Non-syndromic limb reduction defect | http://www.orpha.net/ORDO/Orphanet_93457 | http://www.orpha.net/ORDO/Orphanet_404571 |
Hemimelia | http://www.orpha.net/ORDO/Orphanet_2130 | http://www.orpha.net/ORDO/Orphanet_93457 |
Fibular hemimelia | http://www.orpha.net/ORDO/Orphanet_93323 | http://www.orpha.net/ORDO/Orphanet_2130 |
Fibular hemimelia, unilateral | http://www.orpha.net/ORDO/Orphanet_295081 | http://www.orpha.net/ORDO/Orphanet_93323 |
Fibular hemimelia, bilateral | http://www.orpha.net/ORDO/Orphanet_295083 | http://www.orpha.net/ORDO/Orphanet_93323 |
Ulnar hemimelia | http://www.orpha.net/ORDO/Orphanet_93320 | http://www.orpha.net/ORDO/Orphanet_2130 |
Ulnar hemimelia, bilateral | http://www.orpha.net/ORDO/Orphanet_295073 | http://www.orpha.net/ORDO/Orphanet_93320 |
Ulnar hemimelia, unilateral | http://www.orpha.net/ORDO/Orphanet_295075 | http://www.orpha.net/ORDO/Orphanet_93320 |
Radial hemimelia | http://www.orpha.net/ORDO/Orphanet_93321 | http://www.orpha.net/ORDO/Orphanet_2130 |
Radial hemimelia, bilateral | http://www.orpha.net/ORDO/Orphanet_295071 | http://www.orpha.net/ORDO/Orphanet_93321 |
Radial hemimelia, unilateral | http://www.orpha.net/ORDO/Orphanet_295069 | http://www.orpha.net/ORDO/Orphanet_93321 |
Tibial hemimelia | http://www.orpha.net/ORDO/Orphanet_93322 | http://www.orpha.net/ORDO/Orphanet_2130 |
Tibial hemimelia, unilateral | http://www.orpha.net/ORDO/Orphanet_295077 | http://www.orpha.net/ORDO/Orphanet_93322 |
Tibial hemimelia, bilateral | http://www.orpha.net/ORDO/Orphanet_295079 | http://www.orpha.net/ORDO/Orphanet_93322 |
Terminal limb defects | http://www.orpha.net/ORDO/Orphanet_294929 | http://www.orpha.net/ORDO/Orphanet_93457 |
Split hand or/and split foot malformation | http://www.orpha.net/ORDO/Orphanet_294935 | http://www.orpha.net/ORDO/Orphanet_294929 |
Split hand-split foot malformation | http://www.orpha.net/ORDO/Orphanet_2440 | http://www.orpha.net/ORDO/Orphanet_294935 |
Split foot | http://www.orpha.net/ORDO/Orphanet_294994 | http://www.orpha.net/ORDO/Orphanet_294935 |
Split foot, bilateral | http://www.orpha.net/ORDO/Orphanet_295126 | http://www.orpha.net/ORDO/Orphanet_294994 |
Split foot, unilateral | http://www.orpha.net/ORDO/Orphanet_295124 | http://www.orpha.net/ORDO/Orphanet_294994 |
Split hand | http://www.orpha.net/ORDO/Orphanet_294992 | http://www.orpha.net/ORDO/Orphanet_294935 |
Split hand, bilateral | http://www.orpha.net/ORDO/Orphanet_295122 | http://www.orpha.net/ORDO/Orphanet_294992 |
Split hand, unilateral | http://www.orpha.net/ORDO/Orphanet_295120 | http://www.orpha.net/ORDO/Orphanet_294992 |
Brachydactyly | http://www.orpha.net/ORDO/Orphanet_294937 | http://www.orpha.net/ORDO/Orphanet_294929 |
Brachydactyly of fingers | http://www.orpha.net/ORDO/Orphanet_294996 | http://www.orpha.net/ORDO/Orphanet_294937 |
Brachydactyly of fingers, unilateral | http://www.orpha.net/ORDO/Orphanet_295128 | http://www.orpha.net/ORDO/Orphanet_294996 |
Brachydactyly of fingers, bilateral | http://www.orpha.net/ORDO/Orphanet_295130 | http://www.orpha.net/ORDO/Orphanet_294996 |
Brachydactyly of toes | http://www.orpha.net/ORDO/Orphanet_294998 | http://www.orpha.net/ORDO/Orphanet_294937 |
Brachydactyly of toes, unilateral | http://www.orpha.net/ORDO/Orphanet_295132 | http://www.orpha.net/ORDO/Orphanet_294998 |
Brachydactyly of toes, bilateral | http://www.orpha.net/ORDO/Orphanet_295134 | http://www.orpha.net/ORDO/Orphanet_294998 |
Symbrachydactyly of hands and feet | http://www.orpha.net/ORDO/Orphanet_1570 | http://www.orpha.net/ORDO/Orphanet_294937 |
Symbrachydactyly of hand and foot, unilateral | http://www.orpha.net/ORDO/Orphanet_295136 | http://www.orpha.net/ORDO/Orphanet_1570 |
Symbrachydactyly of hand and foot, bilateral | http://www.orpha.net/ORDO/Orphanet_295138 | http://www.orpha.net/ORDO/Orphanet_1570 |
Adactyly of hand | http://www.orpha.net/ORDO/Orphanet_294931 | http://www.orpha.net/ORDO/Orphanet_294929 |
Congenital absence/hypoplasia of fingers excluding thumb | http://www.orpha.net/ORDO/Orphanet_294990 | http://www.orpha.net/ORDO/Orphanet_294931 |
Congenital absence/hypoplasia of fingers excluding thumb, unilateral | http://www.orpha.net/ORDO/Orphanet_973 | http://www.orpha.net/ORDO/Orphanet_294990 |
Congenital absence/hypoplasia of fingers excluding thumb, bilateral | http://www.orpha.net/ORDO/Orphanet_295114 | http://www.orpha.net/ORDO/Orphanet_294990 |
Congenital absence/hypoplasia of thumb | http://www.orpha.net/ORDO/Orphanet_294988 | http://www.orpha.net/ORDO/Orphanet_294931 |
Congenital absence/hypoplasia of thumb, unilateral | http://www.orpha.net/ORDO/Orphanet_295110 | http://www.orpha.net/ORDO/Orphanet_294988 |
Congenital absence/hypoplasia of thumb, bilateral | http://www.orpha.net/ORDO/Orphanet_295112 | http://www.orpha.net/ORDO/Orphanet_294988 |
Acheiria | http://www.orpha.net/ORDO/Orphanet_294983 | http://www.orpha.net/ORDO/Orphanet_294929 |
Acheiria, bilateral | http://www.orpha.net/ORDO/Orphanet_295103 | http://www.orpha.net/ORDO/Orphanet_294983 |
Acheiria, unilateral | http://www.orpha.net/ORDO/Orphanet_295101 | http://www.orpha.net/ORDO/Orphanet_294983 |
Congenital absence of both lower leg and foot | http://www.orpha.net/ORDO/Orphanet_294981 | http://www.orpha.net/ORDO/Orphanet_294929 |
Congenital absence of both lower leg and foot, bilateral | http://www.orpha.net/ORDO/Orphanet_295099 | http://www.orpha.net/ORDO/Orphanet_294981 |
Congenital absence of both lower leg and foot, unilateral | http://www.orpha.net/ORDO/Orphanet_295097 | http://www.orpha.net/ORDO/Orphanet_294981 |
Apodia | http://www.orpha.net/ORDO/Orphanet_294986 | http://www.orpha.net/ORDO/Orphanet_294929 |
Apodia, unilateral | http://www.orpha.net/ORDO/Orphanet_295105 | http://www.orpha.net/ORDO/Orphanet_294986 |
Apodia, bilateral | http://www.orpha.net/ORDO/Orphanet_295107 | http://www.orpha.net/ORDO/Orphanet_294986 |
Congenital absence of both forearm and hand | http://www.orpha.net/ORDO/Orphanet_294979 | http://www.orpha.net/ORDO/Orphanet_294929 |
Congenital absence of both forearm and hand, bilateral | http://www.orpha.net/ORDO/Orphanet_295095 | http://www.orpha.net/ORDO/Orphanet_294979 |
Congenital absence of both forearm and hand, unilateral | http://www.orpha.net/ORDO/Orphanet_295093 | http://www.orpha.net/ORDO/Orphanet_294979 |
Amniotic bands | http://www.orpha.net/ORDO/Orphanet_1034 | http://www.orpha.net/ORDO/Orphanet_294929 |
Terminal transverse defects of arm | http://www.orpha.net/ORDO/Orphanet_93937 | http://www.orpha.net/ORDO/Orphanet_1034 |
Constriction rings syndrome | http://www.orpha.net/ORDO/Orphanet_295000 | http://www.orpha.net/ORDO/Orphanet_1034 |
Amelia | http://www.orpha.net/ORDO/Orphanet_294925 | http://www.orpha.net/ORDO/Orphanet_93457 |
Tetra-amelia | http://www.orpha.net/ORDO/Orphanet_294971 | http://www.orpha.net/ORDO/Orphanet_294925 |
Amelia of lower limb | http://www.orpha.net/ORDO/Orphanet_294969 | http://www.orpha.net/ORDO/Orphanet_294925 |
Amelia of lower limb, bilateral | http://www.orpha.net/ORDO/Orphanet_295059 | http://www.orpha.net/ORDO/Orphanet_294969 |
Amelia of lower limb, unilateral | http://www.orpha.net/ORDO/Orphanet_295057 | http://www.orpha.net/ORDO/Orphanet_294969 |
Amelia of upper limb | http://www.orpha.net/ORDO/Orphanet_294967 | http://www.orpha.net/ORDO/Orphanet_294925 |
Amelia of upper limb, bilateral | http://www.orpha.net/ORDO/Orphanet_295055 | http://www.orpha.net/ORDO/Orphanet_294967 |
Amelia of upper limb, unilateral | http://www.orpha.net/ORDO/Orphanet_295053 | http://www.orpha.net/ORDO/Orphanet_294967 |
Intercalary limb defects | http://www.orpha.net/ORDO/Orphanet_294927 | http://www.orpha.net/ORDO/Orphanet_93457 |
Congenital absence of upper arm and forearm with hand present | http://www.orpha.net/ORDO/Orphanet_294975 | http://www.orpha.net/ORDO/Orphanet_294927 |
Congenital absence of upper arm and forearm with hand present, unilateral | http://www.orpha.net/ORDO/Orphanet_295085 | http://www.orpha.net/ORDO/Orphanet_294975 |
Congenital absence of upper arm and forearm with hand present, bilateral | http://www.orpha.net/ORDO/Orphanet_295087 | http://www.orpha.net/ORDO/Orphanet_294975 |
Congenital absence of thigh and lower leg with foot present | http://www.orpha.net/ORDO/Orphanet_294977 | http://www.orpha.net/ORDO/Orphanet_294927 |
Congenital absence of thigh and lower leg with foot present, bilateral | http://www.orpha.net/ORDO/Orphanet_295091 | http://www.orpha.net/ORDO/Orphanet_294977 |
Congenital absence of thigh and lower leg with foot present, unilateral | http://www.orpha.net/ORDO/Orphanet_295089 | http://www.orpha.net/ORDO/Orphanet_294977 |
Humeral agenesis/hypoplasia | http://www.orpha.net/ORDO/Orphanet_294973 | http://www.orpha.net/ORDO/Orphanet_93457 |
Humeral agenesis/hypoplasia, bilateral | http://www.orpha.net/ORDO/Orphanet_295063 | http://www.orpha.net/ORDO/Orphanet_294973 |
Humeral agenesis/hypoplasia, unilateral | http://www.orpha.net/ORDO/Orphanet_295061 | http://www.orpha.net/ORDO/Orphanet_294973 |
Femoral agenesis/hypoplasia | http://www.orpha.net/ORDO/Orphanet_1987 | http://www.orpha.net/ORDO/Orphanet_93457 |
Femoral agenesis/hypoplasia, bilateral | http://www.orpha.net/ORDO/Orphanet_295067 | http://www.orpha.net/ORDO/Orphanet_1987 |
Femoral agenesis/hypoplasia, unilateral | http://www.orpha.net/ORDO/Orphanet_295065 | http://www.orpha.net/ORDO/Orphanet_1987 |
Non-syndromic polydactyly, syndactyly and/or hyperphalangy | http://www.orpha.net/ORDO/Orphanet_93458 | http://www.orpha.net/ORDO/Orphanet_404571 |
Polydactyly | http://www.orpha.net/ORDO/Orphanet_2913 | http://www.orpha.net/ORDO/Orphanet_93458 |
Postaxial polydactyly of fingers | http://www.orpha.net/ORDO/Orphanet_294942 | http://www.orpha.net/ORDO/Orphanet_2913 |
Postaxial polydactyly type A | http://www.orpha.net/ORDO/Orphanet_93334 | http://www.orpha.net/ORDO/Orphanet_294942 |
Postaxial polydactyly type A, bilateral | http://www.orpha.net/ORDO/Orphanet_295165 | http://www.orpha.net/ORDO/Orphanet_93334 |
Postaxial polydactyly type A, unilateral | http://www.orpha.net/ORDO/Orphanet_295163 | http://www.orpha.net/ORDO/Orphanet_93334 |
polydactyly, postaxial, A9 | http://www.ebi.ac.uk/efo/EFO_0010250 | http://www.orpha.net/ORDO/Orphanet_93334 |
Postaxial polydactyly type B | http://www.orpha.net/ORDO/Orphanet_93335 | http://www.orpha.net/ORDO/Orphanet_294942 |
Postaxial polydactyly type B, bilateral | http://www.orpha.net/ORDO/Orphanet_295169 | http://www.orpha.net/ORDO/Orphanet_93335 |
Postaxial polydactyly type B, unilateral | http://www.orpha.net/ORDO/Orphanet_295167 | http://www.orpha.net/ORDO/Orphanet_93335 |
Preaxial polydactyly of fingers | http://www.orpha.net/ORDO/Orphanet_294939 | http://www.orpha.net/ORDO/Orphanet_2913 |
Polydactyly of a triphalangeal thumb | http://www.orpha.net/ORDO/Orphanet_93336 | http://www.orpha.net/ORDO/Orphanet_294939 |
Polydactyly of a triphalangeal thumb, bilateral | http://www.orpha.net/ORDO/Orphanet_295150 | http://www.orpha.net/ORDO/Orphanet_93336 |
Polydactyly of a triphalangeal thumb, unilateral | http://www.orpha.net/ORDO/Orphanet_295148 | http://www.orpha.net/ORDO/Orphanet_93336 |
Polydactyly of an index finger | http://www.orpha.net/ORDO/Orphanet_93337 | http://www.orpha.net/ORDO/Orphanet_294939 |
Polydactyly of an index finger, bilateral | http://www.orpha.net/ORDO/Orphanet_295154 | http://www.orpha.net/ORDO/Orphanet_93337 |
Polydactyly of an index finger, unilateral | http://www.orpha.net/ORDO/Orphanet_295152 | http://www.orpha.net/ORDO/Orphanet_93337 |
Polysyndactyly | http://www.orpha.net/ORDO/Orphanet_93338 | http://www.orpha.net/ORDO/Orphanet_294939 |
Polysyndactyly, bilateral | http://www.orpha.net/ORDO/Orphanet_295161 | http://www.orpha.net/ORDO/Orphanet_93338 |
Polysyndactyly, unilateral | http://www.orpha.net/ORDO/Orphanet_295159 | http://www.orpha.net/ORDO/Orphanet_93338 |
Polydactyly of a biphalangeal thumb | http://www.orpha.net/ORDO/Orphanet_93339 | http://www.orpha.net/ORDO/Orphanet_294939 |
Polydactyly of a biphalangeal thumb, unilateral | http://www.orpha.net/ORDO/Orphanet_295144 | http://www.orpha.net/ORDO/Orphanet_93339 |
Polydactyly of a biphalangeal thumb, bilateral | http://www.orpha.net/ORDO/Orphanet_295146 | http://www.orpha.net/ORDO/Orphanet_93339 |
Central polydactyly of fingers | http://www.orpha.net/ORDO/Orphanet_295004 | http://www.orpha.net/ORDO/Orphanet_2913 |
Central polydactyly of fingers, bilateral | http://www.orpha.net/ORDO/Orphanet_295173 | http://www.orpha.net/ORDO/Orphanet_295004 |
Central polydactyly of fingers, unilateral | http://www.orpha.net/ORDO/Orphanet_295171 | http://www.orpha.net/ORDO/Orphanet_295004 |
Postaxial polydactyly of toes | http://www.orpha.net/ORDO/Orphanet_295008 | http://www.orpha.net/ORDO/Orphanet_2913 |
Postaxial polydactyly of toes, bilateral | http://www.orpha.net/ORDO/Orphanet_295181 | http://www.orpha.net/ORDO/Orphanet_295008 |
Postaxial polydactyly of toes, unilateral | http://www.orpha.net/ORDO/Orphanet_295179 | http://www.orpha.net/ORDO/Orphanet_295008 |
Central polydactyly of toes | http://www.orpha.net/ORDO/Orphanet_295010 | http://www.orpha.net/ORDO/Orphanet_2913 |
Central polydactyly of toes, unilateral | http://www.orpha.net/ORDO/Orphanet_295183 | http://www.orpha.net/ORDO/Orphanet_295010 |
Central polydactyly of toes, bilateral | http://www.orpha.net/ORDO/Orphanet_295185 | http://www.orpha.net/ORDO/Orphanet_295010 |
Syndactyly | http://www.orpha.net/ORDO/Orphanet_90025 | http://www.orpha.net/ORDO/Orphanet_93458 |
Syndactyly type 8 | http://www.orpha.net/ORDO/Orphanet_2498 | http://www.orpha.net/ORDO/Orphanet_90025 |
Finger syndactyly | http://purl.obolibrary.org/obo/HP_0006101 | http://www.orpha.net/ORDO/Orphanet_90025 |
Cutaneous finger syndactyly | http://purl.obolibrary.org/obo/HP_0010554 | http://purl.obolibrary.org/obo/HP_0006101 |
Syndactyly type 1 | http://www.orpha.net/ORDO/Orphanet_93402 | http://www.orpha.net/ORDO/Orphanet_90025 |
Zygodactyly type 3 | http://www.orpha.net/ORDO/Orphanet_295191 | http://www.orpha.net/ORDO/Orphanet_93402 |
Zygodactyly type 4 | http://www.orpha.net/ORDO/Orphanet_295193 | http://www.orpha.net/ORDO/Orphanet_93402 |
Zygodactyly type 1 | http://www.orpha.net/ORDO/Orphanet_295187 | http://www.orpha.net/ORDO/Orphanet_93402 |
Zygodactyly type 2 | http://www.orpha.net/ORDO/Orphanet_295189 | http://www.orpha.net/ORDO/Orphanet_93402 |
Syndactyly type 2 | http://www.orpha.net/ORDO/Orphanet_93403 | http://www.orpha.net/ORDO/Orphanet_90025 |
Synpolydactyly type 3 | http://www.orpha.net/ORDO/Orphanet_295199 | http://www.orpha.net/ORDO/Orphanet_93403 |
Synpolydactyly type 1 | http://www.orpha.net/ORDO/Orphanet_295195 | http://www.orpha.net/ORDO/Orphanet_93403 |
Synpolydactyly type 2 | http://www.orpha.net/ORDO/Orphanet_295197 | http://www.orpha.net/ORDO/Orphanet_93403 |
Syndactyly type 3 | http://www.orpha.net/ORDO/Orphanet_93404 | http://www.orpha.net/ORDO/Orphanet_90025 |
Syndactyly type 4 | http://www.orpha.net/ORDO/Orphanet_93405 | http://www.orpha.net/ORDO/Orphanet_90025 |
Syndactyly type 5 | http://www.orpha.net/ORDO/Orphanet_93406 | http://www.orpha.net/ORDO/Orphanet_90025 |
Mesoaxial synostotic syndactyly with phalangeal reduction | http://www.orpha.net/ORDO/Orphanet_157801 | http://www.orpha.net/ORDO/Orphanet_90025 |
Syndactyly type 6 | http://www.orpha.net/ORDO/Orphanet_295012 | http://www.orpha.net/ORDO/Orphanet_90025 |
Hyperphalangy | http://www.orpha.net/ORDO/Orphanet_295002 | http://www.orpha.net/ORDO/Orphanet_93458 |
Hyperphalangy, unilateral | http://www.orpha.net/ORDO/Orphanet_295140 | http://www.orpha.net/ORDO/Orphanet_295002 |
Hyperphalangy, bilateral | http://www.orpha.net/ORDO/Orphanet_295142 | http://www.orpha.net/ORDO/Orphanet_295002 |
Syndrome with synostosis or other joint formation defect | http://www.orpha.net/ORDO/Orphanet_93459 | http://www.orpha.net/ORDO/Orphanet_404571 |
Acrocephalosyndactyly | http://www.orpha.net/ORDO/Orphanet_946 | http://www.orpha.net/ORDO/Orphanet_93459 |
Synostosis - microcephaly - scoliosis | http://www.orpha.net/ORDO/Orphanet_3268 | http://www.orpha.net/ORDO/Orphanet_93459 |
Proximal symphalangism | http://www.orpha.net/ORDO/Orphanet_3250 | http://www.orpha.net/ORDO/Orphanet_93459 |
Tarsal-carpal coalition syndrome | http://www.orpha.net/ORDO/Orphanet_1412 | http://www.orpha.net/ORDO/Orphanet_93459 |
Bipartite talus | http://www.orpha.net/ORDO/Orphanet_364198 | http://www.orpha.net/ORDO/Orphanet_404571 |
Dysostosis with limb and face anomalies as a major feature | http://www.orpha.net/ORDO/Orphanet_364571 | http://www.orpha.net/ORDO/Orphanet_404571 |
Oromandibular-limb hypogenesis syndrome | http://www.orpha.net/ORDO/Orphanet_2749 | http://www.orpha.net/ORDO/Orphanet_364571 |
Glossopalatine ankylosis | http://www.orpha.net/ORDO/Orphanet_141163 | http://www.orpha.net/ORDO/Orphanet_2749 |
Endocrine-cerebro-osteodysplasia syndrome | http://www.orpha.net/ORDO/Orphanet_199332 | http://www.orpha.net/ORDO/Orphanet_364571 |
Congenital pseudoarthrosis of the limbs | http://www.orpha.net/ORDO/Orphanet_157808 | http://www.orpha.net/ORDO/Orphanet_404571 |
Congenital pseudoarthrosis of the ulna | http://www.orpha.net/ORDO/Orphanet_295026 | http://www.orpha.net/ORDO/Orphanet_157808 |
Congenital pseudoarthrosis of the fibula | http://www.orpha.net/ORDO/Orphanet_295022 | http://www.orpha.net/ORDO/Orphanet_157808 |
Congenital pseudoarthrosis of the radius | http://www.orpha.net/ORDO/Orphanet_295024 | http://www.orpha.net/ORDO/Orphanet_157808 |
Congenital pseudoarthrosis of the femur | http://www.orpha.net/ORDO/Orphanet_295020 | http://www.orpha.net/ORDO/Orphanet_157808 |
Congenital pseudoarthrosis of the tibia | http://www.orpha.net/ORDO/Orphanet_295018 | http://www.orpha.net/ORDO/Orphanet_157808 |
Familial clubfoot with or without associated lower limb anomalies | http://www.orpha.net/ORDO/Orphanet_199315 | http://www.orpha.net/ORDO/Orphanet_404571 |
Familial clubfoot due to 5q31 microdeletion | http://www.orpha.net/ORDO/Orphanet_293144 | http://www.orpha.net/ORDO/Orphanet_199315 |
Familial clubfoot due to PITX1 point mutation | http://www.orpha.net/ORDO/Orphanet_293150 | http://www.orpha.net/ORDO/Orphanet_199315 |
Patellar dysostosis | http://www.orpha.net/ORDO/Orphanet_93455 | http://www.orpha.net/ORDO/Orphanet_404568 |
Patella aplasia/hypoplasia | http://www.orpha.net/ORDO/Orphanet_86789 | http://www.orpha.net/ORDO/Orphanet_93455 |
Patella aplasia/hypoplasia, bilateral | http://www.orpha.net/ORDO/Orphanet_295041 | http://www.orpha.net/ORDO/Orphanet_86789 |
Patella aplasia/hypoplasia, unilateral | http://www.orpha.net/ORDO/Orphanet_295038 | http://www.orpha.net/ORDO/Orphanet_86789 |
Familial chondromalacia patellae | http://www.orpha.net/ORDO/Orphanet_1428 | http://www.orpha.net/ORDO/Orphanet_93455 |
Coxopodopatellar syndrome | http://www.orpha.net/ORDO/Orphanet_1509 | http://www.orpha.net/ORDO/Orphanet_93455 |
Dysostosis with predominant craniofacial involvement | http://www.orpha.net/ORDO/Orphanet_93453 | http://www.orpha.net/ORDO/Orphanet_404568 |
Oculoauriculovertebral spectrum with radial defects | http://www.orpha.net/ORDO/Orphanet_2549 | http://www.orpha.net/ORDO/Orphanet_93453 |
Mandibulofacial dysostosis - macroblepharon - macrostomia | http://www.orpha.net/ORDO/Orphanet_357158 | http://www.orpha.net/ORDO/Orphanet_93453 |
Familial osteodysplasia, Anderson type | http://www.orpha.net/ORDO/Orphanet_2769 | http://www.orpha.net/ORDO/Orphanet_93453 |
Frontonasal dysplasia | http://www.orpha.net/ORDO/Orphanet_250 | http://www.orpha.net/ORDO/Orphanet_93453 |
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | http://www.orpha.net/ORDO/Orphanet_306542 | http://www.orpha.net/ORDO/Orphanet_250 |
Frontorhiny | http://www.orpha.net/ORDO/Orphanet_391474 | http://www.orpha.net/ORDO/Orphanet_250 |
Oculoauriculofrontonasal syndrome | http://www.orpha.net/ORDO/Orphanet_398156 | http://www.orpha.net/ORDO/Orphanet_250 |
Craniofrontonasal dysplasia - Poland anomaly | http://www.orpha.net/ORDO/Orphanet_1521 | http://www.orpha.net/ORDO/Orphanet_250 |
Hypertelorism, Teebi type | http://www.orpha.net/ORDO/Orphanet_1519 | http://www.orpha.net/ORDO/Orphanet_250 |
Syngnathia multiple anomalies | http://www.orpha.net/ORDO/Orphanet_3262 | http://www.orpha.net/ORDO/Orphanet_93453 |
Hypertrichotic osteochondrodysplasia, Cantu type | http://www.orpha.net/ORDO/Orphanet_1517 | http://www.orpha.net/ORDO/Orphanet_93453 |
Oculomaxillofacial dysostosis | http://www.orpha.net/ORDO/Orphanet_1794 | http://www.orpha.net/ORDO/Orphanet_93453 |
Dysostosis with predominant vertebral and costal involvement | http://www.orpha.net/ORDO/Orphanet_93454 | http://www.orpha.net/ORDO/Orphanet_404568 |
Progressive non-infectious anterior vertebral fusion | http://www.orpha.net/ORDO/Orphanet_2062 | http://www.orpha.net/ORDO/Orphanet_93454 |
Isolated Klippel-Feil syndrome | http://www.orpha.net/ORDO/Orphanet_2345 | http://www.orpha.net/ORDO/Orphanet_93454 |
Diaphanospondylodysostosis | http://www.orpha.net/ORDO/Orphanet_66637 | http://www.orpha.net/ORDO/Orphanet_93454 |
Imperforate oropharynx - costo vetebral anomalies | http://www.orpha.net/ORDO/Orphanet_2759 | http://www.orpha.net/ORDO/Orphanet_93454 |
Pelvic dysplasia - arthrogryposis of lower limbs | http://www.orpha.net/ORDO/Orphanet_2840 | http://www.orpha.net/ORDO/Orphanet_93454 |
Tall stature - scoliosis - macrodactyly of the great toes | http://www.orpha.net/ORDO/Orphanet_329191 | http://www.orpha.net/ORDO/Orphanet_93454 |
Ischio-vertebral syndrome | http://www.orpha.net/ORDO/Orphanet_85200 | http://www.orpha.net/ORDO/Orphanet_93454 |
Camptodactyly - tall stature - scoliosis - hearing loss | http://www.orpha.net/ORDO/Orphanet_85164 | http://www.orpha.net/ORDO/Orphanet_93454 |
Cerebro-facio-thoracic dysplasia | http://www.orpha.net/ORDO/Orphanet_1394 | http://www.orpha.net/ORDO/Orphanet_93454 |
Cerebro-costo-mandibular syndrome | http://www.orpha.net/ORDO/Orphanet_1393 | http://www.orpha.net/ORDO/Orphanet_93454 |
Autosomal dominant spondylocostal dysostosis | http://www.orpha.net/ORDO/Orphanet_1797 | http://www.orpha.net/ORDO/Orphanet_93454 |
Craniosynostosis | http://www.orpha.net/ORDO/Orphanet_1531 | http://www.orpha.net/ORDO/Orphanet_404568 |
metopic craniosynostosis | http://www.ebi.ac.uk/efo/EFO_0008511 | http://www.orpha.net/ORDO/Orphanet_1531 |
Isolated craniosynostosis | http://www.orpha.net/ORDO/Orphanet_139390 | http://www.orpha.net/ORDO/Orphanet_1531 |
Isolated cloverleaf skull syndrome | http://www.orpha.net/ORDO/Orphanet_2343 | http://www.orpha.net/ORDO/Orphanet_139390 |
Familial lambdoid synostosis | http://www.orpha.net/ORDO/Orphanet_3267 | http://www.orpha.net/ORDO/Orphanet_139390 |
Syndromic craniosynostosis | http://www.orpha.net/ORDO/Orphanet_139393 | http://www.orpha.net/ORDO/Orphanet_1531 |
Craniolenticulosutural dysplasia | http://www.orpha.net/ORDO/Orphanet_50814 | http://www.orpha.net/ORDO/Orphanet_139393 |
Craniosynostosis, Herrmann-Opitz type | http://www.orpha.net/ORDO/Orphanet_2145 | http://www.orpha.net/ORDO/Orphanet_139393 |
Holoprosencephaly - craniosynostosis | http://www.orpha.net/ORDO/Orphanet_2163 | http://www.orpha.net/ORDO/Orphanet_139393 |
Acrocephalopolydactyly | http://www.orpha.net/ORDO/Orphanet_221054 | http://www.orpha.net/ORDO/Orphanet_139393 |
Pseudoaminopterin syndrome | http://www.orpha.net/ORDO/Orphanet_221120 | http://www.orpha.net/ORDO/Orphanet_139393 |
Familial scaphocephaly syndrome | http://www.orpha.net/ORDO/Orphanet_169163 | http://www.orpha.net/ORDO/Orphanet_139393 |
Osteosclerosis-developmental delay-craniosynostosis syndrome | http://www.orpha.net/ORDO/Orphanet_178377 | http://www.orpha.net/ORDO/Orphanet_139393 |
Familial scaphocephaly syndrome, McGillivray type | http://www.orpha.net/ORDO/Orphanet_168624 | http://www.orpha.net/ORDO/Orphanet_139393 |
Craniosynostosis - intracranial calcifications | http://www.orpha.net/ORDO/Orphanet_52054 | http://www.orpha.net/ORDO/Orphanet_139393 |
X-linked intellectual disability - plagiocephaly | http://www.orpha.net/ORDO/Orphanet_2898 | http://www.orpha.net/ORDO/Orphanet_139393 |
Cloverleaf skull - multiple congenital anomalies | http://www.orpha.net/ORDO/Orphanet_93267 | http://www.orpha.net/ORDO/Orphanet_139393 |
Craniosynostosis and dental anomalies | http://www.orpha.net/ORDO/Orphanet_284149 | http://www.orpha.net/ORDO/Orphanet_139393 |
Trigonocephaly - broad thumbs | http://www.orpha.net/ORDO/Orphanet_3365 | http://www.orpha.net/ORDO/Orphanet_139393 |
Craniosynostosis - hydrocephalus - Arnold-Chiari malformation type I - radioulnar synostosis | http://www.orpha.net/ORDO/Orphanet_171839 | http://www.orpha.net/ORDO/Orphanet_139393 |
Lethal occipital encephalocele-skeletal dysplasia syndrome | http://www.orpha.net/ORDO/Orphanet_293925 | http://www.orpha.net/ORDO/Orphanet_139393 |
Craniosynostosis - anal anomalies - porokeratosis | http://www.orpha.net/ORDO/Orphanet_85199 | http://www.orpha.net/ORDO/Orphanet_139393 |
Cloverleaf skull - asphyxiating thoracic dysplasia | http://www.orpha.net/ORDO/Orphanet_100978 | http://www.orpha.net/ORDO/Orphanet_139393 |
fgfr2 related craniosynostosis | http://www.ebi.ac.uk/efo/EFO_0009141 | http://www.orpha.net/ORDO/Orphanet_139393 |
Cutis gyrata - acanthosis nigricans - craniosynostosis | http://www.orpha.net/ORDO/Orphanet_1555 | http://www.orpha.net/ORDO/Orphanet_139393 |
Craniosynostosis, Boston type | http://www.orpha.net/ORDO/Orphanet_1541 | http://www.orpha.net/ORDO/Orphanet_139393 |
Craniosynostosis - fibular aplasia | http://www.orpha.net/ORDO/Orphanet_1533 | http://www.orpha.net/ORDO/Orphanet_139393 |
Craniosynostosis - cataract | http://www.orpha.net/ORDO/Orphanet_1530 | http://www.orpha.net/ORDO/Orphanet_139393 |
Craniomicromelic syndrome | http://www.orpha.net/ORDO/Orphanet_1524 | http://www.orpha.net/ORDO/Orphanet_139393 |
Primary bone dysplasia | http://www.orpha.net/ORDO/Orphanet_364526 | http://www.orpha.net/ORDO/Orphanet_404584 |
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_253 | http://www.orpha.net/ORDO/Orphanet_364526 |
Spondyloepiphyseal dysplasia congenita | http://www.orpha.net/ORDO/Orphanet_94068 | http://www.orpha.net/ORDO/Orphanet_253 |
Metatropic dysplasia | http://www.orpha.net/ORDO/Orphanet_2635 | http://www.orpha.net/ORDO/Orphanet_253 |
Brachydactylous dwarfism, Mseleni type | http://www.orpha.net/ORDO/Orphanet_2619 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondylo-megaepiphyseal-metaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_228387 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia, Isidor type | http://www.orpha.net/ORDO/Orphanet_370015 | http://www.orpha.net/ORDO/Orphanet_253 |
Dyssegmental dysplasia, Rolland-Desbuquois type | http://www.orpha.net/ORDO/Orphanet_156731 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia, matrilin-3 type | http://www.orpha.net/ORDO/Orphanet_156728 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia, Bieganski type | http://www.orpha.net/ORDO/Orphanet_168448 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia - hypotrichosis | http://www.orpha.net/ORDO/Orphanet_168443 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia - abnormal dentition | http://www.orpha.net/ORDO/Orphanet_168451 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia, Pakistani type | http://www.orpha.net/ORDO/Orphanet_93282 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepiphyseal dysplasia, Kimberley type | http://www.orpha.net/ORDO/Orphanet_93283 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepiphyseal dysplasia tarda | http://www.orpha.net/ORDO/Orphanet_93284 | http://www.orpha.net/ORDO/Orphanet_253 |
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis | http://www.orpha.net/ORDO/Orphanet_93279 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia with multiple dislocations | http://www.orpha.net/ORDO/Orphanet_93360 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia, Missouri type | http://www.orpha.net/ORDO/Orphanet_93356 | http://www.orpha.net/ORDO/Orphanet_253 |
SPONASTRIME dysplasia | http://www.orpha.net/ORDO/Orphanet_93357 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | http://www.orpha.net/ORDO/Orphanet_93358 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia, Irapa type | http://www.orpha.net/ORDO/Orphanet_93351 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia, Shohat type | http://www.orpha.net/ORDO/Orphanet_93352 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia congenita, Strudwick type | http://www.orpha.net/ORDO/Orphanet_93346 | http://www.orpha.net/ORDO/Orphanet_253 |
Anauxetic dysplasia | http://www.orpha.net/ORDO/Orphanet_93347 | http://www.orpha.net/ORDO/Orphanet_253 |
Progressive pseudorheumatoid arthropathy of childhood | http://www.orpha.net/ORDO/Orphanet_1159 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepiphyseal dysplasia, Reardon type | http://www.orpha.net/ORDO/Orphanet_163662 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepiphyseal dysplasia, Cantu type | http://www.orpha.net/ORDO/Orphanet_163654 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia, aggrecan type | http://www.orpha.net/ORDO/Orphanet_171866 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepimetaphyseal dysplasia, Handigodu type | http://www.orpha.net/ORDO/Orphanet_99642 | http://www.orpha.net/ORDO/Orphanet_253 |
spondyloepiphyseal dysplasia, Kondo-Fu type | http://www.ebi.ac.uk/efo/EFO_0010168 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloepiphyseal dysplasia, Maroteaux type | http://www.orpha.net/ORDO/Orphanet_263482 | http://www.orpha.net/ORDO/Orphanet_253 |
Otospondylomegaepiphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_1427 | http://www.orpha.net/ORDO/Orphanet_253 |
Dyssegmental dysplasia, Silverman-Handmaker type | http://www.orpha.net/ORDO/Orphanet_1865 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondyloperipheral dysplasia - short ulna | http://www.orpha.net/ORDO/Orphanet_1856 | http://www.orpha.net/ORDO/Orphanet_253 |
Spondylometaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_254 | http://www.orpha.net/ORDO/Orphanet_364526 |
Spondylometaphyseal dysplasia, Czarny-Ratajczak type | http://www.orpha.net/ORDO/Orphanet_370019 | http://www.orpha.net/ORDO/Orphanet_254 |
Spondylometaphyseal dysplasia, A4 type | http://www.orpha.net/ORDO/Orphanet_168555 | http://www.orpha.net/ORDO/Orphanet_254 |
Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism | http://www.orpha.net/ORDO/Orphanet_168552 | http://www.orpha.net/ORDO/Orphanet_254 |
Spondylometaphyseal dysplasia, Golden type | http://www.orpha.net/ORDO/Orphanet_168544 | http://www.orpha.net/ORDO/Orphanet_254 |
Axial spondylometaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_168549 | http://www.orpha.net/ORDO/Orphanet_254 |
Micromelic dwarfism, Fryns type | http://www.orpha.net/ORDO/Orphanet_2641 | http://www.orpha.net/ORDO/Orphanet_254 |
Spondylometaphyseal dysplasia, Kozlowski type | http://www.orpha.net/ORDO/Orphanet_93314 | http://www.orpha.net/ORDO/Orphanet_254 |
Spondylometaphyseal dysplasia, 'corner fracture' type | http://www.orpha.net/ORDO/Orphanet_93315 | http://www.orpha.net/ORDO/Orphanet_254 |
Spondylometaphyseal dysplasia, Schmidt type | http://www.orpha.net/ORDO/Orphanet_93316 | http://www.orpha.net/ORDO/Orphanet_254 |
Spondylometaphyseal dysplasia - cone-rod dystrophy | http://www.orpha.net/ORDO/Orphanet_85167 | http://www.orpha.net/ORDO/Orphanet_254 |
Lethal chondrodysplasia | http://www.orpha.net/ORDO/Orphanet_93465 | http://www.orpha.net/ORDO/Orphanet_364526 |
Lethal Kniest-like dysplasia | http://www.orpha.net/ORDO/Orphanet_2347 | http://www.orpha.net/ORDO/Orphanet_93465 |
Pyknoachondrogenesis | http://www.orpha.net/ORDO/Orphanet_3003 | http://www.orpha.net/ORDO/Orphanet_93465 |
Lethal chondrodysplasia, Seller type | http://www.orpha.net/ORDO/Orphanet_1421 | http://www.orpha.net/ORDO/Orphanet_93465 |
Lethal recessive chondrodysplasia | http://www.orpha.net/ORDO/Orphanet_1423 | http://www.orpha.net/ORDO/Orphanet_93465 |
Lethal chondrodysplasia, Moerman type | http://www.orpha.net/ORDO/Orphanet_1420 | http://www.orpha.net/ORDO/Orphanet_93465 |
Bone dysplasia, lethal Holmgren type | http://www.orpha.net/ORDO/Orphanet_1842 | http://www.orpha.net/ORDO/Orphanet_93465 |
Primary bone dysplasia with disorganized development of skeletal components | http://www.orpha.net/ORDO/Orphanet_93450 | http://www.orpha.net/ORDO/Orphanet_364526 |
Multiple non-ossifying fibromatosis | http://www.orpha.net/ORDO/Orphanet_2029 | http://www.orpha.net/ORDO/Orphanet_93450 |
Metachondromatosis | http://www.orpha.net/ORDO/Orphanet_2499 | http://www.orpha.net/ORDO/Orphanet_93450 |
Osteoglophonic dwarfism | http://www.orpha.net/ORDO/Orphanet_2645 | http://www.orpha.net/ORDO/Orphanet_93450 |
Short stature, Brussels type | http://www.orpha.net/ORDO/Orphanet_2867 | http://www.orpha.net/ORDO/Orphanet_93450 |
Carpotarsal osteochondromatosis | http://www.orpha.net/ORDO/Orphanet_2767 | http://www.orpha.net/ORDO/Orphanet_93450 |
Genochondromatosis type 2 | http://www.orpha.net/ORDO/Orphanet_93398 | http://www.orpha.net/ORDO/Orphanet_93450 |
Cherubism | http://www.orpha.net/ORDO/Orphanet_184 | http://www.orpha.net/ORDO/Orphanet_93450 |
Genochondromatosis type 1 | http://www.orpha.net/ORDO/Orphanet_85197 | http://www.orpha.net/ORDO/Orphanet_93450 |
Dysspondyloenchondromatosis | http://www.orpha.net/ORDO/Orphanet_85198 | http://www.orpha.net/ORDO/Orphanet_93450 |
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | http://www.orpha.net/ORDO/Orphanet_99646 | http://www.orpha.net/ORDO/Orphanet_93450 |
Cheirospondyloenchondromatosis | http://www.orpha.net/ORDO/Orphanet_99647 | http://www.orpha.net/ORDO/Orphanet_93450 |
Gnathodiaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_53697 | http://www.orpha.net/ORDO/Orphanet_93450 |
Dysplasia epiphysealis hemimelica | http://www.orpha.net/ORDO/Orphanet_1822 | http://www.orpha.net/ORDO/Orphanet_93450 |
Bone dysplasia, Azouz type | http://www.orpha.net/ORDO/Orphanet_1844 | http://www.orpha.net/ORDO/Orphanet_93450 |
Exostoses - anetodermia - brachydactyly type E | http://www.orpha.net/ORDO/Orphanet_1962 | http://www.orpha.net/ORDO/Orphanet_93450 |
Cleidocranial dysplasia and isolated cranial ossification defect | http://www.orpha.net/ORDO/Orphanet_93451 | http://www.orpha.net/ORDO/Orphanet_364526 |
Parietal foramina | http://www.orpha.net/ORDO/Orphanet_60015 | http://www.orpha.net/ORDO/Orphanet_93451 |
Delayed membranous cranial ossification | http://www.orpha.net/ORDO/Orphanet_3034 | http://www.orpha.net/ORDO/Orphanet_93451 |
Parietal foramina with cleidocranial dysplasia | http://www.orpha.net/ORDO/Orphanet_251290 | http://www.orpha.net/ORDO/Orphanet_93451 |
Cleidocranial dysplasia | http://www.orpha.net/ORDO/Orphanet_1452 | http://www.orpha.net/ORDO/Orphanet_93451 |
Primary bone dysplasia with increased bone density | http://www.orpha.net/ORDO/Orphanet_93444 | http://www.orpha.net/ORDO/Orphanet_364526 |
High bone mass osteogenesis imperfecta | http://www.orpha.net/ORDO/Orphanet_314029 | http://www.orpha.net/ORDO/Orphanet_93444 |
Dysplastic cortical hyperostosis | http://www.orpha.net/ORDO/Orphanet_2204 | http://www.orpha.net/ORDO/Orphanet_93444 |
Juvenile Paget disease | http://www.orpha.net/ORDO/Orphanet_2801 | http://www.orpha.net/ORDO/Orphanet_93444 |
Autosomal dominant osteosclerosis, Worth type | http://www.orpha.net/ORDO/Orphanet_2790 | http://www.orpha.net/ORDO/Orphanet_93444 |
Osteopetrosis | http://www.orpha.net/ORDO/Orphanet_2781 | http://www.orpha.net/ORDO/Orphanet_93444 |
Melorheostosis | http://www.orpha.net/ORDO/Orphanet_2485 | http://www.orpha.net/ORDO/Orphanet_2781 |
Isolated osteopoikilosis | http://www.orpha.net/ORDO/Orphanet_166119 | http://www.orpha.net/ORDO/Orphanet_2781 |
Osteopathia striata - cranial sclerosis | http://www.orpha.net/ORDO/Orphanet_2780 | http://www.orpha.net/ORDO/Orphanet_2781 |
Autosomal dominant osteopetrosis type 1 | http://www.orpha.net/ORDO/Orphanet_2783 | http://www.orpha.net/ORDO/Orphanet_2781 |
Osteomesopyknosis | http://www.orpha.net/ORDO/Orphanet_2777 | http://www.orpha.net/ORDO/Orphanet_2781 |
Infantile osteopetrosis with neuroaxonal dysplasia | http://www.orpha.net/ORDO/Orphanet_85179 | http://www.orpha.net/ORDO/Orphanet_2781 |
Intermediate osteopetrosis | http://www.orpha.net/ORDO/Orphanet_210110 | http://www.orpha.net/ORDO/Orphanet_2781 |
Dysosteosclerosis | http://www.orpha.net/ORDO/Orphanet_1782 | http://www.orpha.net/ORDO/Orphanet_2781 |
Melorheostosis with osteopoikilosis | http://www.orpha.net/ORDO/Orphanet_1879 | http://www.orpha.net/ORDO/Orphanet_2781 |
Neonatal osteosclerotic dysplasia | http://www.orpha.net/ORDO/Orphanet_93443 | http://www.orpha.net/ORDO/Orphanet_93444 |
Blomstrand lethal chondrodysplasia | http://www.orpha.net/ORDO/Orphanet_50945 | http://www.orpha.net/ORDO/Orphanet_93443 |
Lethal osteosclerotic bone dysplasia | http://www.orpha.net/ORDO/Orphanet_1832 | http://www.orpha.net/ORDO/Orphanet_93443 |
Hyperostosis corticalis generalisata | http://www.orpha.net/ORDO/Orphanet_3416 | http://www.orpha.net/ORDO/Orphanet_93444 |
Sclerosteosis | http://www.orpha.net/ORDO/Orphanet_3152 | http://www.orpha.net/ORDO/Orphanet_93444 |
Craniometadiaphyseal dysplasia, wormian bone type | http://www.orpha.net/ORDO/Orphanet_85184 | http://www.orpha.net/ORDO/Orphanet_93444 |
Metaphyseal dysplasia, Braun-Tinschert type | http://www.orpha.net/ORDO/Orphanet_85188 | http://www.orpha.net/ORDO/Orphanet_93444 |
Primary hypertrophic osteoarthropathy | http://www.orpha.net/ORDO/Orphanet_248095 | http://www.orpha.net/ORDO/Orphanet_93444 |
Pachydermoperiostosis | http://www.orpha.net/ORDO/Orphanet_2796 | http://www.orpha.net/ORDO/Orphanet_248095 |
Cranio-osteoarthropathy | http://www.orpha.net/ORDO/Orphanet_1525 | http://www.orpha.net/ORDO/Orphanet_248095 |
Mixed sclerosing bone dystrophy with extra-skeletal manifestations | http://www.orpha.net/ORDO/Orphanet_324364 | http://www.orpha.net/ORDO/Orphanet_93444 |
Dacryocystitis - osteopoikilosis | http://www.orpha.net/ORDO/Orphanet_1562 | http://www.orpha.net/ORDO/Orphanet_93444 |
Craniometaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_1522 | http://www.orpha.net/ORDO/Orphanet_93444 |
Craniodiaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_1513 | http://www.orpha.net/ORDO/Orphanet_93444 |
Dysostosis, Stanescu type | http://www.orpha.net/ORDO/Orphanet_1798 | http://www.orpha.net/ORDO/Orphanet_93444 |
Primary bone dysplasia with decreased bone density | http://www.orpha.net/ORDO/Orphanet_93446 | http://www.orpha.net/ORDO/Orphanet_364526 |
Suarez-Stickler syndrome | http://www.orpha.net/ORDO/Orphanet_166277 | http://www.orpha.net/ORDO/Orphanet_93446 |
Osteogenesis imperfecta | http://www.orpha.net/ORDO/Orphanet_666 | http://www.orpha.net/ORDO/Orphanet_93446 |
Osteogenesis imperfecta type 1 | http://www.orpha.net/ORDO/Orphanet_216796 | http://www.orpha.net/ORDO/Orphanet_666 |
Osteogenesis imperfecta type 5 | http://www.orpha.net/ORDO/Orphanet_216828 | http://www.orpha.net/ORDO/Orphanet_666 |
Osteogenesis imperfecta type 4 | http://www.orpha.net/ORDO/Orphanet_216820 | http://www.orpha.net/ORDO/Orphanet_666 |
Osteogenesis imperfecta type 2 | http://www.orpha.net/ORDO/Orphanet_216804 | http://www.orpha.net/ORDO/Orphanet_666 |
Osteogenesis imperfecta type 3 | http://www.orpha.net/ORDO/Orphanet_216812 | http://www.orpha.net/ORDO/Orphanet_666 |
Osteoporosis - oculocutaneous hypopigmentation syndrome | http://www.orpha.net/ORDO/Orphanet_2786 | http://www.orpha.net/ORDO/Orphanet_93446 |
Osteoporosis - macrocephaly - blindness - joint hyperlaxity | http://www.orpha.net/ORDO/Orphanet_2787 | http://www.orpha.net/ORDO/Orphanet_93446 |
Congenital osteogenesis imperfecta - microcephaly - cataracts | http://www.orpha.net/ORDO/Orphanet_2772 | http://www.orpha.net/ORDO/Orphanet_93446 |
Osteogenesis imperfecta - retinopathy - seizures - intellectual disability | http://www.orpha.net/ORDO/Orphanet_2773 | http://www.orpha.net/ORDO/Orphanet_93446 |
Bowed tibiae - radial anomalies - osteopenia - fractures | http://www.orpha.net/ORDO/Orphanet_3331 | http://www.orpha.net/ORDO/Orphanet_93446 |
Idiopathic juvenile osteoporosis | http://www.orpha.net/ORDO/Orphanet_85193 | http://www.orpha.net/ORDO/Orphanet_93446 |
Spondylo-ocular syndrome | http://www.orpha.net/ORDO/Orphanet_85194 | http://www.orpha.net/ORDO/Orphanet_93446 |
Calvarial doughnut lesions - bone fragility | http://www.orpha.net/ORDO/Orphanet_85192 | http://www.orpha.net/ORDO/Orphanet_93446 |
Primary bone dysplasia with defective bone mineralization | http://www.orpha.net/ORDO/Orphanet_93447 | http://www.orpha.net/ORDO/Orphanet_364526 |
Hypophosphatasia | http://www.orpha.net/ORDO/Orphanet_436 | http://www.orpha.net/ORDO/Orphanet_93447 |
Perinatal lethal hypophosphatasia | http://www.orpha.net/ORDO/Orphanet_247623 | http://www.orpha.net/ORDO/Orphanet_436 |
Odontohypophosphatasia | http://www.orpha.net/ORDO/Orphanet_247685 | http://www.orpha.net/ORDO/Orphanet_436 |
adult hypophosphatasia | http://www.ebi.ac.uk/efo/EFO_0021431 | http://www.orpha.net/ORDO/Orphanet_436 |
childhood-onset hypophosphatasia | http://www.ebi.ac.uk/efo/EFO_0021432 | http://www.orpha.net/ORDO/Orphanet_436 |
Primary osteolysis | http://www.orpha.net/ORDO/Orphanet_93449 | http://www.orpha.net/ORDO/Orphanet_364526 |
Talo-patello-scaphoid osteolysis | http://www.orpha.net/ORDO/Orphanet_50809 | http://www.orpha.net/ORDO/Orphanet_93449 |
Juvenile hyaline fibromatosis | http://www.orpha.net/ORDO/Orphanet_2028 | http://www.orpha.net/ORDO/Orphanet_93449 |
Infantile systemic hyalinosis | http://www.orpha.net/ORDO/Orphanet_2176 | http://www.orpha.net/ORDO/Orphanet_93449 |
Autosomal recessive distal osteolysis syndrome | http://www.orpha.net/ORDO/Orphanet_2776 | http://www.orpha.net/ORDO/Orphanet_93449 |
Familial expansile osteolysis | http://www.orpha.net/ORDO/Orphanet_85195 | http://www.orpha.net/ORDO/Orphanet_93449 |
Phalangeal microgeodic syndrome | http://www.orpha.net/ORDO/Orphanet_352636 | http://www.orpha.net/ORDO/Orphanet_93449 |
Multicentric osteolysis-nodulosis-arthropathy spectrum | http://www.orpha.net/ORDO/Orphanet_371428 | http://www.orpha.net/ORDO/Orphanet_93449 |
Torg-Winchester syndrome | http://www.orpha.net/ORDO/Orphanet_3460 | http://www.orpha.net/ORDO/Orphanet_371428 |
Nodulosis-arthropathy-osteolysis syndrome | http://www.orpha.net/ORDO/Orphanet_85196 | http://www.orpha.net/ORDO/Orphanet_371428 |
Pacman dysplasia | http://www.orpha.net/ORDO/Orphanet_1952 | http://www.orpha.net/ORDO/Orphanet_93449 |
Slender bone dysplasia | http://www.orpha.net/ORDO/Orphanet_93440 | http://www.orpha.net/ORDO/Orphanet_364526 |
3M syndrome | http://www.orpha.net/ORDO/Orphanet_2616 | http://www.orpha.net/ORDO/Orphanet_93440 |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome | http://www.orpha.net/ORDO/Orphanet_314394 | http://www.orpha.net/ORDO/Orphanet_93440 |
Osteocraniostenosis | http://www.orpha.net/ORDO/Orphanet_2763 | http://www.orpha.net/ORDO/Orphanet_93440 |
Thin ribs - tubular bones - dysmorphism | http://www.orpha.net/ORDO/Orphanet_1506 | http://www.orpha.net/ORDO/Orphanet_93440 |
Primary bone dysplasia with multiple joint dislocations | http://www.orpha.net/ORDO/Orphanet_93441 | http://www.orpha.net/ORDO/Orphanet_364526 |
Reunion Island's Larsen syndrome | http://www.orpha.net/ORDO/Orphanet_294049 | http://www.orpha.net/ORDO/Orphanet_93441 |
Larsen-like osseous dysplasia - short stature | http://www.orpha.net/ORDO/Orphanet_2370 | http://www.orpha.net/ORDO/Orphanet_93441 |
Lethal Larsen-like syndrome | http://www.orpha.net/ORDO/Orphanet_2371 | http://www.orpha.net/ORDO/Orphanet_93441 |
Chondrodysplasia with joint dislocations, gPAPP type | http://www.orpha.net/ORDO/Orphanet_280586 | http://www.orpha.net/ORDO/Orphanet_93441 |
Autosomal dominant Larsen syndrome | http://www.orpha.net/ORDO/Orphanet_503 | http://www.orpha.net/ORDO/Orphanet_93441 |
Auriculoosteodysplasia | http://www.orpha.net/ORDO/Orphanet_114 | http://www.orpha.net/ORDO/Orphanet_93441 |
Atelosteogenesis type I | http://www.orpha.net/ORDO/Orphanet_1190 | http://www.orpha.net/ORDO/Orphanet_93441 |
Pseudodiastrophic dysplasia | http://www.orpha.net/ORDO/Orphanet_85174 | http://www.orpha.net/ORDO/Orphanet_93441 |
Desbuquois syndrome | http://www.orpha.net/ORDO/Orphanet_1425 | http://www.orpha.net/ORDO/Orphanet_93441 |
Coxoauricular syndrome | http://www.orpha.net/ORDO/Orphanet_1508 | http://www.orpha.net/ORDO/Orphanet_93441 |
Chondrodysplasia punctata | http://www.orpha.net/ORDO/Orphanet_93442 | http://www.orpha.net/ORDO/Orphanet_364526 |
Non-rhizomelic chondrodysplasia punctata | http://www.orpha.net/ORDO/Orphanet_176 | http://www.orpha.net/ORDO/Orphanet_93442 |
Autosomal dominant chondrodysplasia punctata | http://www.orpha.net/ORDO/Orphanet_79344 | http://www.orpha.net/ORDO/Orphanet_176 |
Chondrodysplasia punctata, Toriello type | http://www.orpha.net/ORDO/Orphanet_79347 | http://www.orpha.net/ORDO/Orphanet_176 |
Chondrodysplasia punctata, tibial-metacarpal type | http://www.orpha.net/ORDO/Orphanet_79346 | http://www.orpha.net/ORDO/Orphanet_176 |
Dappled diaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_99645 | http://www.orpha.net/ORDO/Orphanet_93442 |
Spondylodysplastic dysplasia | http://www.orpha.net/ORDO/Orphanet_93434 | http://www.orpha.net/ORDO/Orphanet_364526 |
Achondrogenesis | http://www.orpha.net/ORDO/Orphanet_932 | http://www.orpha.net/ORDO/Orphanet_93434 |
Achondrogenesis type 2 | http://www.orpha.net/ORDO/Orphanet_93296 | http://www.orpha.net/ORDO/Orphanet_932 |
Hypochondrogenesis | http://www.orpha.net/ORDO/Orphanet_93297 | http://www.orpha.net/ORDO/Orphanet_932 |
Achondrogenesis type 1B | http://www.orpha.net/ORDO/Orphanet_93298 | http://www.orpha.net/ORDO/Orphanet_932 |
Achondrogenesis type 1A | http://www.orpha.net/ORDO/Orphanet_93299 | http://www.orpha.net/ORDO/Orphanet_932 |
Opsismodysplasia | http://www.orpha.net/ORDO/Orphanet_2746 | http://www.orpha.net/ORDO/Orphanet_93434 |
Spondylometaphyseal dysplasia, Sedaghatian type | http://www.orpha.net/ORDO/Orphanet_93317 | http://www.orpha.net/ORDO/Orphanet_93434 |
Spondylocamptodactyly syndrome | http://www.orpha.net/ORDO/Orphanet_3180 | http://www.orpha.net/ORDO/Orphanet_93434 |
Spondylocarpotarsal synostosis | http://www.orpha.net/ORDO/Orphanet_3275 | http://www.orpha.net/ORDO/Orphanet_93434 |
Brachyolmia | http://www.orpha.net/ORDO/Orphanet_1293 | http://www.orpha.net/ORDO/Orphanet_93434 |
Brachyolmia-amelogenesis imperfecta syndrome | http://www.orpha.net/ORDO/Orphanet_2899 | http://www.orpha.net/ORDO/Orphanet_1293 |
Brachyolmia, Maroteaux type | http://www.orpha.net/ORDO/Orphanet_93302 | http://www.orpha.net/ORDO/Orphanet_1293 |
Autosomal dominant brachyolmia | http://www.orpha.net/ORDO/Orphanet_93304 | http://www.orpha.net/ORDO/Orphanet_1293 |
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type | http://www.orpha.net/ORDO/Orphanet_401979 | http://www.orpha.net/ORDO/Orphanet_93434 |
Platyspondylic dysplasia, Torrance type | http://www.orpha.net/ORDO/Orphanet_85166 | http://www.orpha.net/ORDO/Orphanet_93434 |
Acromelic dysplasia | http://www.orpha.net/ORDO/Orphanet_93436 | http://www.orpha.net/ORDO/Orphanet_364526 |
Geleophysic dysplasia | http://www.orpha.net/ORDO/Orphanet_2623 | http://www.orpha.net/ORDO/Orphanet_93436 |
Acromicric dysplasia | http://www.orpha.net/ORDO/Orphanet_969 | http://www.orpha.net/ORDO/Orphanet_93436 |
Acrodysostosis | http://www.orpha.net/ORDO/Orphanet_950 | http://www.orpha.net/ORDO/Orphanet_93436 |
Angel-shaped phalango-epiphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_63442 | http://www.orpha.net/ORDO/Orphanet_93436 |
Acrocapitofemoral dysplasia | http://www.orpha.net/ORDO/Orphanet_63446 | http://www.orpha.net/ORDO/Orphanet_93436 |
Craniofacial conodysplasia | http://www.orpha.net/ORDO/Orphanet_85168 | http://www.orpha.net/ORDO/Orphanet_93436 |
Peripheral dysostosis | http://www.orpha.net/ORDO/Orphanet_1795 | http://www.orpha.net/ORDO/Orphanet_93436 |
Acromesomelic dysplasia | http://www.orpha.net/ORDO/Orphanet_93437 | http://www.orpha.net/ORDO/Orphanet_364526 |
Acromesomelic dysplasia, Grebe type | http://www.orpha.net/ORDO/Orphanet_2098 | http://www.orpha.net/ORDO/Orphanet_93437 |
Acromesomelic dysplasia, Hunter-Thomson type | http://www.orpha.net/ORDO/Orphanet_968 | http://www.orpha.net/ORDO/Orphanet_93437 |
Acromesomelic dysplasia, Maroteaux type | http://www.orpha.net/ORDO/Orphanet_40 | http://www.orpha.net/ORDO/Orphanet_93437 |
Mesomelic and rhizo-mesomelic dysplasia | http://www.orpha.net/ORDO/Orphanet_93438 | http://www.orpha.net/ORDO/Orphanet_364526 |
Fibrochondrogenesis | http://www.orpha.net/ORDO/Orphanet_2021 | http://www.orpha.net/ORDO/Orphanet_93438 |
Upper limb mesomelic dysplasia | http://www.orpha.net/ORDO/Orphanet_2497 | http://www.orpha.net/ORDO/Orphanet_93438 |
Mesomelic dwarfism - cleft palate - camptodactyly | http://www.orpha.net/ORDO/Orphanet_2631 | http://www.orpha.net/ORDO/Orphanet_93438 |
Mesomelic dwarfism, Nievergelt type | http://www.orpha.net/ORDO/Orphanet_2633 | http://www.orpha.net/ORDO/Orphanet_93438 |
Mesomelic dwarfism, Reinhardt-Pfeiffer type | http://www.orpha.net/ORDO/Orphanet_2634 | http://www.orpha.net/ORDO/Orphanet_93438 |
Omodysplasia | http://www.orpha.net/ORDO/Orphanet_2733 | http://www.orpha.net/ORDO/Orphanet_93438 |
Autosomal dominant omodysplasia | http://www.orpha.net/ORDO/Orphanet_93328 | http://www.orpha.net/ORDO/Orphanet_2733 |
Autosomal recessive omodysplasia | http://www.orpha.net/ORDO/Orphanet_93329 | http://www.orpha.net/ORDO/Orphanet_2733 |
Rhizomelic dysplasia, Patterson-Lowry type | http://www.orpha.net/ORDO/Orphanet_2831 | http://www.orpha.net/ORDO/Orphanet_93438 |
Léri-Weill dyschondrosteosis | http://www.orpha.net/ORDO/Orphanet_240 | http://www.orpha.net/ORDO/Orphanet_93438 |
Rhizomelic syndrome, Urbach type | http://www.orpha.net/ORDO/Orphanet_3098 | http://www.orpha.net/ORDO/Orphanet_93438 |
Mesomelic dysplasia, Savarirayan type | http://www.orpha.net/ORDO/Orphanet_85170 | http://www.orpha.net/ORDO/Orphanet_93438 |
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome | http://www.orpha.net/ORDO/Orphanet_397623 | http://www.orpha.net/ORDO/Orphanet_93438 |
Cleidorhizomelic syndrome | http://www.orpha.net/ORDO/Orphanet_1453 | http://www.orpha.net/ORDO/Orphanet_93438 |
Mesomelic dysplasia, Kantaputra type | http://www.orpha.net/ORDO/Orphanet_1836 | http://www.orpha.net/ORDO/Orphanet_93438 |
Bent bone dysplasia | http://www.orpha.net/ORDO/Orphanet_93439 | http://www.orpha.net/ORDO/Orphanet_364526 |
Congenital bowing of long bones | http://www.orpha.net/ORDO/Orphanet_2292 | http://www.orpha.net/ORDO/Orphanet_93439 |
Parastremmatic dwarfism | http://www.orpha.net/ORDO/Orphanet_2646 | http://www.orpha.net/ORDO/Orphanet_93439 |
Severe lateral tibial bowing with short stature | http://www.orpha.net/ORDO/Orphanet_324307 | http://www.orpha.net/ORDO/Orphanet_93439 |
Campomelia, Cumming type | http://www.orpha.net/ORDO/Orphanet_1318 | http://www.orpha.net/ORDO/Orphanet_93439 |
Kyphomelic dysplasia | http://www.orpha.net/ORDO/Orphanet_1801 | http://www.orpha.net/ORDO/Orphanet_93439 |
Multiple metaphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_93430 | http://www.orpha.net/ORDO/Orphanet_364526 |
Metaphyseal chondrodysplasia, Spahr type | http://www.orpha.net/ORDO/Orphanet_2501 | http://www.orpha.net/ORDO/Orphanet_93430 |
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty | http://www.orpha.net/ORDO/Orphanet_2504 | http://www.orpha.net/ORDO/Orphanet_93430 |
Metaphyseal chondrodysplasia, Jansen type | http://www.orpha.net/ORDO/Orphanet_33067 | http://www.orpha.net/ORDO/Orphanet_93430 |
Metaphyseal chondrodysplasia, Kaitila type | http://www.orpha.net/ORDO/Orphanet_166038 | http://www.orpha.net/ORDO/Orphanet_93430 |
Metaphyseal chondrodysplasia - retinitis pigmentosa | http://www.orpha.net/ORDO/Orphanet_166035 | http://www.orpha.net/ORDO/Orphanet_93430 |
Metaphyseal chondrodysplasia, Schmid type | http://www.orpha.net/ORDO/Orphanet_174 | http://www.orpha.net/ORDO/Orphanet_93430 |
Metaphyseal acroscyphodysplasia | http://www.orpha.net/ORDO/Orphanet_1240 | http://www.orpha.net/ORDO/Orphanet_93430 |
Metaphyseal anadysplasia | http://www.orpha.net/ORDO/Orphanet_1040 | http://www.orpha.net/ORDO/Orphanet_93430 |
Ulna metaphyseal dysplasia syndrome | http://www.orpha.net/ORDO/Orphanet_1837 | http://www.orpha.net/ORDO/Orphanet_93430 |
Short rib dysplasia | http://www.orpha.net/ORDO/Orphanet_93426 | http://www.orpha.net/ORDO/Orphanet_364526 |
Short rib-polydactyly syndrome | http://www.orpha.net/ORDO/Orphanet_1505 | http://www.orpha.net/ORDO/Orphanet_93426 |
Short rib-polydactyly syndrome, Verma-Naumoff type | http://www.orpha.net/ORDO/Orphanet_93271 | http://www.orpha.net/ORDO/Orphanet_1505 |
Short rib-polydactyly syndrome, Beemer-Langer type | http://www.orpha.net/ORDO/Orphanet_93268 | http://www.orpha.net/ORDO/Orphanet_1505 |
Short rib-polydactyly syndrome, Majewski type | http://www.orpha.net/ORDO/Orphanet_93269 | http://www.orpha.net/ORDO/Orphanet_1505 |
Thoracomelic dysplasia | http://www.orpha.net/ORDO/Orphanet_1803 | http://www.orpha.net/ORDO/Orphanet_93426 |
Multiple epiphyseal dysplasia and pseudoachondroplasia | http://www.orpha.net/ORDO/Orphanet_93429 | http://www.orpha.net/ORDO/Orphanet_364526 |
Hip dysplasia, Beukes type | http://www.orpha.net/ORDO/Orphanet_2114 | http://www.orpha.net/ORDO/Orphanet_93429 |
Dysplasia of head of femur, Meyer type | http://www.orpha.net/ORDO/Orphanet_168621 | http://www.orpha.net/ORDO/Orphanet_93429 |
Pseudoachondroplasia | http://www.orpha.net/ORDO/Orphanet_750 | http://www.orpha.net/ORDO/Orphanet_93429 |
Multiple epiphyseal dysplasia | http://www.orpha.net/ORDO/Orphanet_251 | http://www.orpha.net/ORDO/Orphanet_93429 |
Multiple epiphyseal dysplasia, Lowry type | http://www.orpha.net/ORDO/Orphanet_166016 | http://www.orpha.net/ORDO/Orphanet_251 |
Multiple epiphyseal dysplasia, Beighton type | http://www.orpha.net/ORDO/Orphanet_166011 | http://www.orpha.net/ORDO/Orphanet_251 |
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia | http://www.orpha.net/ORDO/Orphanet_166029 | http://www.orpha.net/ORDO/Orphanet_251 |
Multiple epiphyseal dysplasia, Al-Gazali type | http://www.orpha.net/ORDO/Orphanet_166024 | http://www.orpha.net/ORDO/Orphanet_251 |
Multiple epiphyseal dysplasia due to collagen 9 anomaly | http://www.orpha.net/ORDO/Orphanet_166002 | http://www.orpha.net/ORDO/Orphanet_251 |
Multiple epiphyseal dysplasia, with miniepiphyses | http://www.orpha.net/ORDO/Orphanet_166032 | http://www.orpha.net/ORDO/Orphanet_251 |
Multiple epiphyseal dysplasia type 5 | http://www.orpha.net/ORDO/Orphanet_93311 | http://www.orpha.net/ORDO/Orphanet_251 |
Multiple epiphyseal dysplasia type 4 | http://www.orpha.net/ORDO/Orphanet_93307 | http://www.orpha.net/ORDO/Orphanet_251 |
Multiple epiphyseal dysplasia type 1 | http://www.orpha.net/ORDO/Orphanet_93308 | http://www.orpha.net/ORDO/Orphanet_251 |
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments | http://www.orpha.net/ORDO/Orphanet_364531 | http://www.orpha.net/ORDO/Orphanet_364526 |
Progressive osseous heteroplasia | http://www.orpha.net/ORDO/Orphanet_2762 | http://www.orpha.net/ORDO/Orphanet_364531 |
Primary bone dysplasia with micromelia | http://www.orpha.net/ORDO/Orphanet_364536 | http://www.orpha.net/ORDO/Orphanet_364526 |
Diastrophic dwarfism | http://www.orpha.net/ORDO/Orphanet_628 | http://www.orpha.net/ORDO/Orphanet_364536 |
Hypochondroplasia | http://www.orpha.net/ORDO/Orphanet_429 | http://www.orpha.net/ORDO/Orphanet_364536 |
Thanatophoric dysplasia | http://www.orpha.net/ORDO/Orphanet_2655 | http://www.orpha.net/ORDO/Orphanet_364536 |
Thanatophoric dysplasia type 2 | http://www.orpha.net/ORDO/Orphanet_93274 | http://www.orpha.net/ORDO/Orphanet_2655 |
Thanatophoric dysplasia type 1 | http://www.orpha.net/ORDO/Orphanet_1860 | http://www.orpha.net/ORDO/Orphanet_2655 |
Achondroplasia | http://www.orpha.net/ORDO/Orphanet_15 | http://www.orpha.net/ORDO/Orphanet_364536 |
Genetic vascular anomaly | http://www.orpha.net/ORDO/Orphanet_211240 | http://www.orpha.net/ORDO/Orphanet_183530 |
Capillary malformation - arteriovenous malformation | http://www.orpha.net/ORDO/Orphanet_137667 | http://www.orpha.net/ORDO/Orphanet_211240 |
Mucocutaneous venous malformations | http://www.orpha.net/ORDO/Orphanet_2451 | http://www.orpha.net/ORDO/Orphanet_211240 |
Tufted angioma | http://www.orpha.net/ORDO/Orphanet_1063 | http://www.orpha.net/ORDO/Orphanet_211240 |
Developmental anomaly of metabolic origin | http://www.orpha.net/ORDO/Orphanet_139009 | http://www.orpha.net/ORDO/Orphanet_183530 |
Congenital disorder of glycosylation with developmental anomaly | http://www.orpha.net/ORDO/Orphanet_371235 | http://www.orpha.net/ORDO/Orphanet_139009 |
Congenital disorder of glycosylation-related bone disorder | http://www.orpha.net/ORDO/Orphanet_371195 | http://www.orpha.net/ORDO/Orphanet_371235 |
Malformation syndrome with connective tissue involvement | http://www.orpha.net/ORDO/Orphanet_139030 | http://www.orpha.net/ORDO/Orphanet_183530 |
Marfanoid habitus - inguinal hernia - advanced bone age | http://www.orpha.net/ORDO/Orphanet_314041 | http://www.orpha.net/ORDO/Orphanet_139030 |
Cutis laxa-Marfanoid syndrome | http://www.orpha.net/ORDO/Orphanet_171719 | http://www.orpha.net/ORDO/Orphanet_139030 |
Grange syndrome | http://www.orpha.net/ORDO/Orphanet_79094 | http://www.orpha.net/ORDO/Orphanet_139030 |
Malformation syndrome with skin/mucosae involvement | http://www.orpha.net/ORDO/Orphanet_139027 | http://www.orpha.net/ORDO/Orphanet_183530 |
Cavernous hemangiomas of face - supraumbilical midline raphe | http://www.orpha.net/ORDO/Orphanet_2124 | http://www.orpha.net/ORDO/Orphanet_139027 |
Lipoid proteinosis | http://www.orpha.net/ORDO/Orphanet_530 | http://www.orpha.net/ORDO/Orphanet_139027 |
Recessive aplasia cutis congenita of limbs | http://www.orpha.net/ORDO/Orphanet_1115 | http://www.orpha.net/ORDO/Orphanet_139027 |
Isolated adermatoglyphia | http://www.orpha.net/ORDO/Orphanet_289465 | http://www.orpha.net/ORDO/Orphanet_139027 |
Lethal restrictive dermopathy | http://www.orpha.net/ORDO/Orphanet_1662 | http://www.orpha.net/ORDO/Orphanet_139027 |
Genetic cardiac anomaly | http://www.orpha.net/ORDO/Orphanet_271853 | http://www.orpha.net/ORDO/Orphanet_183530 |
Congenitally uncorrected transposition of the great arteries | http://www.orpha.net/ORDO/Orphanet_860 | http://www.orpha.net/ORDO/Orphanet_271853 |
Congenitally uncorrected transposition of the great arteries with coarctation | http://www.orpha.net/ORDO/Orphanet_99042 | http://www.orpha.net/ORDO/Orphanet_860 |
Congenitally uncorrected transposition of the great arteries with cardiac malformation | http://www.orpha.net/ORDO/Orphanet_216729 | http://www.orpha.net/ORDO/Orphanet_860 |
Isolated congenitally uncorrected transposition of the great arteries | http://www.orpha.net/ORDO/Orphanet_216718 | http://www.orpha.net/ORDO/Orphanet_860 |
Situs inversus totalis | http://www.orpha.net/ORDO/Orphanet_101063 | http://www.orpha.net/ORDO/Orphanet_271853 |
Double outlet right ventricle | http://www.orpha.net/ORDO/Orphanet_3426 | http://www.orpha.net/ORDO/Orphanet_271853 |
Taussig-Bing syndrome | http://www.orpha.net/ORDO/Orphanet_101042 | http://www.orpha.net/ORDO/Orphanet_3426 |
Double outlet right ventricle with subaortic ventricular septal defect | http://www.orpha.net/ORDO/Orphanet_99044 | http://www.orpha.net/ORDO/Orphanet_3426 |
Double outlet right ventricle with subpulmonary ventricular septal defect | http://www.orpha.net/ORDO/Orphanet_99045 | http://www.orpha.net/ORDO/Orphanet_3426 |
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect | http://www.orpha.net/ORDO/Orphanet_99046 | http://www.orpha.net/ORDO/Orphanet_3426 |
Double outlet right ventricle with doubly committed ventricular septal defect | http://www.orpha.net/ORDO/Orphanet_99047 | http://www.orpha.net/ORDO/Orphanet_3426 |
Supravalvular aortic stenosis | http://www.orpha.net/ORDO/Orphanet_3193 | http://www.orpha.net/ORDO/Orphanet_271853 |
Situs ambiguus | http://www.orpha.net/ORDO/Orphanet_157769 | http://www.orpha.net/ORDO/Orphanet_271853 |
Ventricular septal defect | http://www.orpha.net/ORDO/Orphanet_1480 | http://www.orpha.net/ORDO/Orphanet_271853 |
Single ventricular septal defect | http://www.orpha.net/ORDO/Orphanet_99097 | http://www.orpha.net/ORDO/Orphanet_1480 |
Gerbode defect | http://www.orpha.net/ORDO/Orphanet_99095 | http://www.orpha.net/ORDO/Orphanet_1480 |
Multiple ventricular septal defects | http://www.orpha.net/ORDO/Orphanet_99096 | http://www.orpha.net/ORDO/Orphanet_1480 |
Interventricular septum aneurysm | http://www.orpha.net/ORDO/Orphanet_99092 | http://www.orpha.net/ORDO/Orphanet_1480 |
Genetic congenital limb malformation | http://www.orpha.net/ORDO/Orphanet_183536 | http://www.orpha.net/ORDO/Orphanet_183530 |
Genetic syndrome with limb malformations as a major feature | http://www.orpha.net/ORDO/Orphanet_404577 | http://www.orpha.net/ORDO/Orphanet_183536 |
Thumb deformity - alopecia - pigmentation anomaly | http://www.orpha.net/ORDO/Orphanet_2251 | http://www.orpha.net/ORDO/Orphanet_404577 |
Arthrogryposis syndrome | http://www.orpha.net/ORDO/Orphanet_109007 | http://www.orpha.net/ORDO/Orphanet_404577 |
Multiple pterygium syndrome | http://www.orpha.net/ORDO/Orphanet_294060 | http://www.orpha.net/ORDO/Orphanet_109007 |
Lethal multiple pterygium syndrome | http://www.orpha.net/ORDO/Orphanet_33108 | http://www.orpha.net/ORDO/Orphanet_294060 |
Autosomal recessive multiple pterygium syndrome | http://www.orpha.net/ORDO/Orphanet_2990 | http://www.orpha.net/ORDO/Orphanet_294060 |
Autosomal dominant multiple pterygium syndrome | http://www.orpha.net/ORDO/Orphanet_65743 | http://www.orpha.net/ORDO/Orphanet_294060 |
Popliteal pterygium syndrome | http://www.orpha.net/ORDO/Orphanet_294963 | http://www.orpha.net/ORDO/Orphanet_109007 |
Lethal congenital contracture syndrome | http://www.orpha.net/ORDO/Orphanet_294965 | http://www.orpha.net/ORDO/Orphanet_109007 |
Lethal congenital contracture syndrome type 3 | http://www.orpha.net/ORDO/Orphanet_137783 | http://www.orpha.net/ORDO/Orphanet_294965 |
Lethal congenital contracture syndrome type 2 | http://www.orpha.net/ORDO/Orphanet_137776 | http://www.orpha.net/ORDO/Orphanet_294965 |
Arthrogryposis multiplex congenita | http://www.orpha.net/ORDO/Orphanet_1037 | http://www.orpha.net/ORDO/Orphanet_109007 |
Van den Ende-Gupta syndrome | http://www.orpha.net/ORDO/Orphanet_2460 | http://www.orpha.net/ORDO/Orphanet_1037 |
Adducted thumbs - arthrogryposis, Christian type | http://www.orpha.net/ORDO/Orphanet_2952 | http://www.orpha.net/ORDO/Orphanet_1037 |
Hypomyelination neuropathy - arthrogryposis | http://www.orpha.net/ORDO/Orphanet_2680 | http://www.orpha.net/ORDO/Orphanet_1037 |
Arthrogryposis-like syndrome | http://www.orpha.net/ORDO/Orphanet_1149 | http://www.orpha.net/ORDO/Orphanet_1037 |
Neurogenic arthrogryposis multiplex congenita | http://www.orpha.net/ORDO/Orphanet_1143 | http://www.orpha.net/ORDO/Orphanet_1037 |
Arthrogryposis multiplex congenita - whistling face | http://www.orpha.net/ORDO/Orphanet_1150 | http://www.orpha.net/ORDO/Orphanet_1037 |
Lethal arthrogryposis - anterior horn cell disease | http://www.orpha.net/ORDO/Orphanet_53696 | http://www.orpha.net/ORDO/Orphanet_1037 |
Arthrogryposis - hyperkeratosis, lethal form | http://www.orpha.net/ORDO/Orphanet_1485 | http://www.orpha.net/ORDO/Orphanet_1037 |
Distal arthrogryposis | http://www.orpha.net/ORDO/Orphanet_97120 | http://www.orpha.net/ORDO/Orphanet_109007 |
Trismus - pseudocamptodactyly | http://www.orpha.net/ORDO/Orphanet_3377 | http://www.orpha.net/ORDO/Orphanet_97120 |
Sheldon-Hall syndrome | http://www.orpha.net/ORDO/Orphanet_1147 | http://www.orpha.net/ORDO/Orphanet_97120 |
Digitotalar dysmorphism | http://www.orpha.net/ORDO/Orphanet_1146 | http://www.orpha.net/ORDO/Orphanet_97120 |
Arthrogryposis with oculomotor limitation and electroretinal anomalies | http://www.orpha.net/ORDO/Orphanet_1154 | http://www.orpha.net/ORDO/Orphanet_97120 |
Distal arthrogryposis type 5D | http://www.orpha.net/ORDO/Orphanet_329457 | http://www.orpha.net/ORDO/Orphanet_97120 |
Arthrogryposis - severe scoliosis | http://www.orpha.net/ORDO/Orphanet_65720 | http://www.orpha.net/ORDO/Orphanet_97120 |
Distal arthrogryposis type 10 | http://www.orpha.net/ORDO/Orphanet_251515 | http://www.orpha.net/ORDO/Orphanet_97120 |
Sirenomelia | http://www.orpha.net/ORDO/Orphanet_3169 | http://www.orpha.net/ORDO/Orphanet_404577 |
Extensor tendons of finger anomalies | http://www.orpha.net/ORDO/Orphanet_3294 | http://www.orpha.net/ORDO/Orphanet_404577 |
Camptodactyly - taurinuria | http://www.orpha.net/ORDO/Orphanet_1325 | http://www.orpha.net/ORDO/Orphanet_404577 |
Non-syndromic limb malformation | http://www.orpha.net/ORDO/Orphanet_109011 | http://www.orpha.net/ORDO/Orphanet_183536 |
Congenital joint dislocations | http://www.orpha.net/ORDO/Orphanet_294951 | http://www.orpha.net/ORDO/Orphanet_109011 |
Congenital knee dislocation | http://www.orpha.net/ORDO/Orphanet_295034 | http://www.orpha.net/ORDO/Orphanet_294951 |
Congenital genu flexum | http://www.orpha.net/ORDO/Orphanet_295232 | http://www.orpha.net/ORDO/Orphanet_295034 |
Congenital genu recurvatum | http://www.orpha.net/ORDO/Orphanet_295229 | http://www.orpha.net/ORDO/Orphanet_295034 |
Congenital patella dislocation | http://www.orpha.net/ORDO/Orphanet_295036 | http://www.orpha.net/ORDO/Orphanet_294951 |
Congenital patella dislocation, bilateral | http://www.orpha.net/ORDO/Orphanet_295237 | http://www.orpha.net/ORDO/Orphanet_295036 |
Congenital patella dislocation, unilateral | http://www.orpha.net/ORDO/Orphanet_295234 | http://www.orpha.net/ORDO/Orphanet_295036 |
Congenital shoulder dislocation | http://www.orpha.net/ORDO/Orphanet_295030 | http://www.orpha.net/ORDO/Orphanet_294951 |
Congenital elbow dislocation | http://www.orpha.net/ORDO/Orphanet_295032 | http://www.orpha.net/ORDO/Orphanet_294951 |
Congenital elbow dislocation, unilateral | http://www.orpha.net/ORDO/Orphanet_295225 | http://www.orpha.net/ORDO/Orphanet_295032 |
Congenital elbow dislocation, bilateral | http://www.orpha.net/ORDO/Orphanet_295227 | http://www.orpha.net/ORDO/Orphanet_295032 |
Limb overgrowth | http://www.orpha.net/ORDO/Orphanet_294953 | http://www.orpha.net/ORDO/Orphanet_109011 |
Upper limb hypertrophy | http://www.orpha.net/ORDO/Orphanet_295049 | http://www.orpha.net/ORDO/Orphanet_294953 |
Macrodactyly of fingers | http://www.orpha.net/ORDO/Orphanet_295044 | http://www.orpha.net/ORDO/Orphanet_294953 |
Macrodactyly of fingers, bilateral | http://www.orpha.net/ORDO/Orphanet_295241 | http://www.orpha.net/ORDO/Orphanet_295044 |
Macrodactyly of fingers, unilateral | http://www.orpha.net/ORDO/Orphanet_295239 | http://www.orpha.net/ORDO/Orphanet_295044 |
Macrodactyly of toes | http://www.orpha.net/ORDO/Orphanet_295047 | http://www.orpha.net/ORDO/Orphanet_294953 |
Macrodactyly of toes, unilateral | http://www.orpha.net/ORDO/Orphanet_295243 | http://www.orpha.net/ORDO/Orphanet_295047 |
Macrodactyly of toes, bilateral | http://www.orpha.net/ORDO/Orphanet_295245 | http://www.orpha.net/ORDO/Orphanet_295047 |
Lower limb hypertrophy | http://www.orpha.net/ORDO/Orphanet_295051 | http://www.orpha.net/ORDO/Orphanet_294953 |
Congenital deformities of limbs | http://www.orpha.net/ORDO/Orphanet_294944 | http://www.orpha.net/ORDO/Orphanet_109011 |
Congenital deformities of fingers | http://www.orpha.net/ORDO/Orphanet_294947 | http://www.orpha.net/ORDO/Orphanet_294944 |
Camptodactyly of fingers | http://www.orpha.net/ORDO/Orphanet_295016 | http://www.orpha.net/ORDO/Orphanet_294947 |
Familial isolated clinodactyly of fingers | http://www.orpha.net/ORDO/Orphanet_295014 | http://www.orpha.net/ORDO/Orphanet_294947 |
Congenital vertical talus | http://www.orpha.net/ORDO/Orphanet_178382 | http://www.orpha.net/ORDO/Orphanet_294944 |
Congenital vertical talus, bilateral | http://www.orpha.net/ORDO/Orphanet_295203 | http://www.orpha.net/ORDO/Orphanet_178382 |
Congenital vertical talus, unilateral | http://www.orpha.net/ORDO/Orphanet_295201 | http://www.orpha.net/ORDO/Orphanet_178382 |
Genetic multiple congenital anomalies/dysmorphic syndrome | http://www.orpha.net/ORDO/Orphanet_183533 | http://www.orpha.net/ORDO/Orphanet_183530 |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability | http://www.orpha.net/ORDO/Orphanet_330206 | http://www.orpha.net/ORDO/Orphanet_183533 |
Multinodular goiter - cystic kidney - polydactyly | http://www.orpha.net/ORDO/Orphanet_2091 | http://www.orpha.net/ORDO/Orphanet_330206 |
Gingival fibromatosis - facial dysmorphism | http://www.orpha.net/ORDO/Orphanet_2025 | http://www.orpha.net/ORDO/Orphanet_330206 |
Cleft palate-lateral synechia syndrome | http://www.orpha.net/ORDO/Orphanet_2016 | http://www.orpha.net/ORDO/Orphanet_330206 |
Alar cartilages hypoplasia - coloboma - telecanthus | http://www.orpha.net/ORDO/Orphanet_2007 | http://www.orpha.net/ORDO/Orphanet_330206 |
Cleft lip/palate - intestinal malrotation - cardiopathy | http://www.orpha.net/ORDO/Orphanet_2001 | http://www.orpha.net/ORDO/Orphanet_330206 |
Genito-palato-cardiac syndrome | http://www.orpha.net/ORDO/Orphanet_2075 | http://www.orpha.net/ORDO/Orphanet_330206 |
Posterior fusion of lumbosacral vertebrae - blepharoptosis | http://www.orpha.net/ORDO/Orphanet_2064 | http://www.orpha.net/ORDO/Orphanet_330206 |
Lymphedema - cleft palate | http://www.orpha.net/ORDO/Orphanet_86917 | http://www.orpha.net/ORDO/Orphanet_330206 |
Hirschsprung disease - type D brachydactyly | http://www.orpha.net/ORDO/Orphanet_2150 | http://www.orpha.net/ORDO/Orphanet_330206 |
Diaphragmatic defect - limb deficiency - skull defect | http://www.orpha.net/ORDO/Orphanet_2141 | http://www.orpha.net/ORDO/Orphanet_330206 |
Hydrocephaly - tall stature - joint laxity | http://www.orpha.net/ORDO/Orphanet_2181 | http://www.orpha.net/ORDO/Orphanet_330206 |
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome | http://www.orpha.net/ORDO/Orphanet_314002 | http://www.orpha.net/ORDO/Orphanet_330206 |
Microcephaly - albinism - digital anomalies | http://www.orpha.net/ORDO/Orphanet_2513 | http://www.orpha.net/ORDO/Orphanet_330206 |
Macrosomia - microphthalmia - cleft palate | http://www.orpha.net/ORDO/Orphanet_2432 | http://www.orpha.net/ORDO/Orphanet_330206 |
Dislocation of the hip - dysmorphism | http://www.orpha.net/ORDO/Orphanet_2412 | http://www.orpha.net/ORDO/Orphanet_330206 |
White forelock with malformations | http://www.orpha.net/ORDO/Orphanet_2475 | http://www.orpha.net/ORDO/Orphanet_330206 |
Van der Woude syndrome | http://www.orpha.net/ORDO/Orphanet_888 | http://www.orpha.net/ORDO/Orphanet_330206 |
Acro-renal-mandibular syndrome | http://www.orpha.net/ORDO/Orphanet_958 | http://www.orpha.net/ORDO/Orphanet_330206 |
Polysyndactyly - cardiac malformation | http://www.orpha.net/ORDO/Orphanet_2934 | http://www.orpha.net/ORDO/Orphanet_330206 |
Short stature - craniofacial anomalies - genital hypoplasia | http://www.orpha.net/ORDO/Orphanet_2994 | http://www.orpha.net/ORDO/Orphanet_330206 |
Autosomal dominant prognathism | http://www.orpha.net/ORDO/Orphanet_2964 | http://www.orpha.net/ORDO/Orphanet_330206 |
Median nodule of the upper lip | http://www.orpha.net/ORDO/Orphanet_2699 | http://www.orpha.net/ORDO/Orphanet_330206 |
Short tarsus - absence of lower eyelashes | http://www.orpha.net/ORDO/Orphanet_2832 | http://www.orpha.net/ORDO/Orphanet_330206 |
Short stature - valvular heart disease - characteristic facies | http://www.orpha.net/ORDO/Orphanet_2868 | http://www.orpha.net/ORDO/Orphanet_330206 |
Macrostomia - preauricular tags - external ophthalmoplegia | http://www.orpha.net/ORDO/Orphanet_83619 | http://www.orpha.net/ORDO/Orphanet_330206 |
Cryptomicrotia - brachydactyly - excess fingertip arch | http://www.orpha.net/ORDO/Orphanet_1547 | http://www.orpha.net/ORDO/Orphanet_330206 |
Heart defects - limb shortening | http://www.orpha.net/ORDO/Orphanet_1354 | http://www.orpha.net/ORDO/Orphanet_330206 |
Night blindness - skeletal anomalies - dysmorphism | http://www.orpha.net/ORDO/Orphanet_1390 | http://www.orpha.net/ORDO/Orphanet_330206 |
Camptodactyly syndrome, Guadalajara type 2 | http://www.orpha.net/ORDO/Orphanet_1326 | http://www.orpha.net/ORDO/Orphanet_330206 |
Camptodactyly syndrome, Guadalajara type 1 | http://www.orpha.net/ORDO/Orphanet_1327 | http://www.orpha.net/ORDO/Orphanet_330206 |
Heart defect-tongue hamartoma-polysyndactyly syndrome | http://www.orpha.net/ORDO/Orphanet_1338 | http://www.orpha.net/ORDO/Orphanet_330206 |
Cantrell pentalogy | http://www.orpha.net/ORDO/Orphanet_1335 | http://www.orpha.net/ORDO/Orphanet_330206 |
Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities | http://www.orpha.net/ORDO/Orphanet_77300 | http://www.orpha.net/ORDO/Orphanet_330206 |
Oculo-oto-facial dysplasia | http://www.orpha.net/ORDO/Orphanet_77302 | http://www.orpha.net/ORDO/Orphanet_330206 |
Anonychia - microcephaly | http://www.orpha.net/ORDO/Orphanet_1094 | http://www.orpha.net/ORDO/Orphanet_330206 |
Auriculoocular anomalies - cleft lip | http://www.orpha.net/ORDO/Orphanet_71270 | http://www.orpha.net/ORDO/Orphanet_330206 |
Branchio-oculo-facial syndrome | http://www.orpha.net/ORDO/Orphanet_1297 | http://www.orpha.net/ORDO/Orphanet_330206 |
Dermato-cardio-skeletal syndrome, Borrone type | http://www.orpha.net/ORDO/Orphanet_1266 | http://www.orpha.net/ORDO/Orphanet_330206 |
Arrhinia - choanal atresia - microphthalmia | http://www.orpha.net/ORDO/Orphanet_1135 | http://www.orpha.net/ORDO/Orphanet_330206 |
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies | http://www.orpha.net/ORDO/Orphanet_1101 | http://www.orpha.net/ORDO/Orphanet_330206 |
Anophthalmia plus syndrome | http://www.orpha.net/ORDO/Orphanet_1104 | http://www.orpha.net/ORDO/Orphanet_330206 |
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence | http://www.orpha.net/ORDO/Orphanet_3201 | http://www.orpha.net/ORDO/Orphanet_330206 |
Velo-facial-skeletal syndrome | http://www.orpha.net/ORDO/Orphanet_3424 | http://www.orpha.net/ORDO/Orphanet_330206 |
Von Voss-Cherstvoy syndrome | http://www.orpha.net/ORDO/Orphanet_3439 | http://www.orpha.net/ORDO/Orphanet_330206 |
Trigonocephaly - bifid nose - acral anomalies | http://www.orpha.net/ORDO/Orphanet_3368 | http://www.orpha.net/ORDO/Orphanet_330206 |
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability | http://www.orpha.net/ORDO/Orphanet_330197 | http://www.orpha.net/ORDO/Orphanet_183533 |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | http://www.orpha.net/ORDO/Orphanet_2180 | http://www.orpha.net/ORDO/Orphanet_330197 |
Isotretinoin-like syndrome | http://www.orpha.net/ORDO/Orphanet_2306 | http://www.orpha.net/ORDO/Orphanet_330197 |
Symptomatic form of Coffin-Lowry syndrome in female carriers | http://www.orpha.net/ORDO/Orphanet_276630 | http://www.orpha.net/ORDO/Orphanet_330197 |
Acromegaloid facial appearance syndrome | http://www.orpha.net/ORDO/Orphanet_965 | http://www.orpha.net/ORDO/Orphanet_330197 |
Oculotrichoanal syndrome | http://www.orpha.net/ORDO/Orphanet_2717 | http://www.orpha.net/ORDO/Orphanet_330197 |
Short stature - wormian bones - dextrocardia | http://www.orpha.net/ORDO/Orphanet_2863 | http://www.orpha.net/ORDO/Orphanet_330197 |
Arachnodactyly - intellectual disability - dysmorphism | http://www.orpha.net/ORDO/Orphanet_1130 | http://www.orpha.net/ORDO/Orphanet_330197 |
Congenital unilateral hypoplasia of depressor anguli oris | http://www.orpha.net/ORDO/Orphanet_1166 | http://www.orpha.net/ORDO/Orphanet_330197 |
Short stature-heart defect-craniofacial anomalies syndrome | http://www.orpha.net/ORDO/Orphanet_1088 | http://www.orpha.net/ORDO/Orphanet_330197 |
Carey-Fineman-Ziter syndrome | http://www.orpha.net/ORDO/Orphanet_1358 | http://www.orpha.net/ORDO/Orphanet_330197 |
Hypomandibular faciocranial dysostosis | http://www.orpha.net/ORDO/Orphanet_1790 | http://www.orpha.net/ORDO/Orphanet_330197 |
Lethal polymalformative syndrome, Boissel type | http://www.orpha.net/ORDO/Orphanet_210144 | http://www.orpha.net/ORDO/Orphanet_183533 |
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability | http://www.orpha.net/ORDO/Orphanet_102283 | http://www.orpha.net/ORDO/Orphanet_183533 |
Koolen-De Vries syndrome | http://www.orpha.net/ORDO/Orphanet_96169 | http://www.orpha.net/ORDO/Orphanet_102283 |
Koolen-De Vries syndrome due to a point mutation | http://www.orpha.net/ORDO/Orphanet_363965 | http://www.orpha.net/ORDO/Orphanet_96169 |
Macrocephaly - short stature - paraplegia | http://www.orpha.net/ORDO/Orphanet_2427 | http://www.orpha.net/ORDO/Orphanet_102283 |
Cerebro-facio-articular syndrome | http://www.orpha.net/ORDO/Orphanet_314679 | http://www.orpha.net/ORDO/Orphanet_102283 |
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome | http://www.orpha.net/ORDO/Orphanet_314575 | http://www.orpha.net/ORDO/Orphanet_102283 |
Telecanthus - hypertelorism - strabismus - pes cavus | http://www.orpha.net/ORDO/Orphanet_3293 | http://www.orpha.net/ORDO/Orphanet_102283 |
Brachydactyly - nystagmus - cerebellar ataxia | http://www.orpha.net/ORDO/Orphanet_1246 | http://www.orpha.net/ORDO/Orphanet_102283 |
Muscular hypertrophy - hepatomegaly - polyhydramnios | http://www.orpha.net/ORDO/Orphanet_324416 | http://www.orpha.net/ORDO/Orphanet_102283 |
Aymé-Gripp syndrome | http://www.ebi.ac.uk/efo/EFO_0009020 | http://www.orpha.net/ORDO/Orphanet_102283 |
TELO2-related intellectual disability-neurodevelopmental disorder | http://www.ebi.ac.uk/efo/EFO_0009061 | http://www.orpha.net/ORDO/Orphanet_102283 |
Temple-Baraitser syndrome | http://www.ebi.ac.uk/efo/EFO_0009062 | http://www.orpha.net/ORDO/Orphanet_102283 |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | http://www.ebi.ac.uk/efo/EFO_0009050 | http://www.orpha.net/ORDO/Orphanet_102283 |
Genetic digestive tract malformation | http://www.orpha.net/ORDO/Orphanet_183545 | http://www.orpha.net/ORDO/Orphanet_183530 |
Anorectal malformation | http://www.orpha.net/ORDO/Orphanet_96346 | http://www.orpha.net/ORDO/Orphanet_183545 |
Syndromic anorectal malformation | http://www.orpha.net/ORDO/Orphanet_117573 | http://www.orpha.net/ORDO/Orphanet_96346 |
Hirschsprung disease - ganglioneuroblastoma | http://www.orpha.net/ORDO/Orphanet_2151 | http://www.orpha.net/ORDO/Orphanet_117573 |
Hirschsprung disease - nail hypoplasia - dysmorphism | http://www.orpha.net/ORDO/Orphanet_2153 | http://www.orpha.net/ORDO/Orphanet_117573 |
Caudal duplication | http://www.orpha.net/ORDO/Orphanet_1756 | http://www.orpha.net/ORDO/Orphanet_117573 |
Isolated anorectal malformation | http://www.orpha.net/ORDO/Orphanet_557 | http://www.orpha.net/ORDO/Orphanet_96346 |
Low anorectal malformation | http://www.orpha.net/ORDO/Orphanet_171215 | http://www.orpha.net/ORDO/Orphanet_557 |
Intermediate anorectal malformation | http://www.orpha.net/ORDO/Orphanet_171208 | http://www.orpha.net/ORDO/Orphanet_557 |
High anorectal malformation | http://www.orpha.net/ORDO/Orphanet_171201 | http://www.orpha.net/ORDO/Orphanet_557 |
Rectal duplication | http://www.orpha.net/ORDO/Orphanet_171220 | http://www.orpha.net/ORDO/Orphanet_96346 |
Intestinal malformation | http://www.orpha.net/ORDO/Orphanet_97945 | http://www.orpha.net/ORDO/Orphanet_183545 |
Syndromic intestinal malformation | http://www.orpha.net/ORDO/Orphanet_108969 | http://www.orpha.net/ORDO/Orphanet_97945 |
Marfanoid syndrome, De Silva type | http://www.orpha.net/ORDO/Orphanet_2464 | http://www.orpha.net/ORDO/Orphanet_108969 |
Familial intestinal malrotation - facial anomalies | http://www.orpha.net/ORDO/Orphanet_2454 | http://www.orpha.net/ORDO/Orphanet_108969 |
Umbilical cord ulceration - intestinal atresia | http://www.orpha.net/ORDO/Orphanet_3405 | http://www.orpha.net/ORDO/Orphanet_108969 |
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome | http://www.orpha.net/ORDO/Orphanet_293864 | http://www.orpha.net/ORDO/Orphanet_108969 |
Thoraco-abdominal enteric duplication | http://www.orpha.net/ORDO/Orphanet_1759 | http://www.orpha.net/ORDO/Orphanet_108969 |
Non-syndromic intestinal malformation | http://www.orpha.net/ORDO/Orphanet_108967 | http://www.orpha.net/ORDO/Orphanet_97945 |
Multiple intestinal atresia | http://www.orpha.net/ORDO/Orphanet_2300 | http://www.orpha.net/ORDO/Orphanet_108967 |
Common mesentery | http://www.orpha.net/ORDO/Orphanet_620 | http://www.orpha.net/ORDO/Orphanet_108967 |
Digestive duplication | http://www.orpha.net/ORDO/Orphanet_238 | http://www.orpha.net/ORDO/Orphanet_108967 |
Colonic atresia | http://www.orpha.net/ORDO/Orphanet_1198 | http://www.orpha.net/ORDO/Orphanet_108967 |
Gastroduodenal malformation | http://www.orpha.net/ORDO/Orphanet_97944 | http://www.orpha.net/ORDO/Orphanet_183545 |
Syndromic gastroduodenal malformation | http://www.orpha.net/ORDO/Orphanet_108965 | http://www.orpha.net/ORDO/Orphanet_97944 |
Non-syndromic gastroduodenal malformation | http://www.orpha.net/ORDO/Orphanet_108963 | http://www.orpha.net/ORDO/Orphanet_97944 |
Duodenal atresia | http://www.orpha.net/ORDO/Orphanet_1203 | http://www.orpha.net/ORDO/Orphanet_108963 |
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen | http://www.orpha.net/ORDO/Orphanet_183548 | http://www.orpha.net/ORDO/Orphanet_183530 |
Syndromic visceral malformation | http://www.orpha.net/ORDO/Orphanet_108973 | http://www.orpha.net/ORDO/Orphanet_183548 |
Non-syndromic visceral malformation | http://www.orpha.net/ORDO/Orphanet_108971 | http://www.orpha.net/ORDO/Orphanet_183548 |
Accessory pancreas | http://www.orpha.net/ORDO/Orphanet_674 | http://www.orpha.net/ORDO/Orphanet_108971 |
Annular pancreas | http://www.orpha.net/ORDO/Orphanet_675 | http://www.orpha.net/ORDO/Orphanet_108971 |
Partial pancreatic agenesis | http://www.orpha.net/ORDO/Orphanet_2805 | http://www.orpha.net/ORDO/Orphanet_108971 |
Genetic cranial malformation | http://www.orpha.net/ORDO/Orphanet_183542 | http://www.orpha.net/ORDO/Orphanet_183530 |
Craniofacial dysplasia-osteopenia syndrome | http://www.orpha.net/ORDO/Orphanet_314555 | http://www.orpha.net/ORDO/Orphanet_183542 |
Craniofacial dyssynostosis | http://www.orpha.net/ORDO/Orphanet_1516 | http://www.orpha.net/ORDO/Orphanet_183542 |
Genetic malformation syndrome with short stature | http://www.orpha.net/ORDO/Orphanet_183570 | http://www.orpha.net/ORDO/Orphanet_183530 |
MULIBREY nanism | http://www.orpha.net/ORDO/Orphanet_2576 | http://www.orpha.net/ORDO/Orphanet_183570 |
Genetic overgrowth/obesity syndrome | http://www.orpha.net/ORDO/Orphanet_183573 | http://www.orpha.net/ORDO/Orphanet_183530 |
Overgrowth syndrome | http://www.orpha.net/ORDO/Orphanet_93460 | http://www.orpha.net/ORDO/Orphanet_183573 |
Overgrowth - macrocephaly - facial dysmorphism | http://www.orpha.net/ORDO/Orphanet_137634 | http://www.orpha.net/ORDO/Orphanet_93460 |
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia | http://www.orpha.net/ORDO/Orphanet_314662 | http://www.orpha.net/ORDO/Orphanet_93460 |
pik3ca related overgrowth spectrum | http://www.ebi.ac.uk/efo/EFO_0009146 | http://www.orpha.net/ORDO/Orphanet_93460 |
Genetic branchial arch or oral-acral syndrome | http://www.orpha.net/ORDO/Orphanet_183576 | http://www.orpha.net/ORDO/Orphanet_183530 |
Auriculocondylar syndrome | http://www.orpha.net/ORDO/Orphanet_137888 | http://www.orpha.net/ORDO/Orphanet_183576 |
Epibulbar lipodermoid - preauricular appendage - polythelia | http://www.orpha.net/ORDO/Orphanet_231742 | http://www.orpha.net/ORDO/Orphanet_183576 |
Otofaciocervical syndrome | http://www.orpha.net/ORDO/Orphanet_2792 | http://www.orpha.net/ORDO/Orphanet_183576 |
Genetic malformation syndrome with odontal and/or periodontal component | http://www.orpha.net/ORDO/Orphanet_183580 | http://www.orpha.net/ORDO/Orphanet_183530 |
Hereditary gingival fibromatosis | http://www.orpha.net/ORDO/Orphanet_2024 | http://www.orpha.net/ORDO/Orphanet_183580 |
Cleft palate - stapes fixation - oligodontia | http://www.orpha.net/ORDO/Orphanet_2010 | http://www.orpha.net/ORDO/Orphanet_183580 |
Postaxial polydactyly - dental and vertebral anomalies | http://www.orpha.net/ORDO/Orphanet_2916 | http://www.orpha.net/ORDO/Orphanet_183580 |
Non-eruption of teeth - maxillary hypoplasia - genu valgum | http://www.orpha.net/ORDO/Orphanet_2972 | http://www.orpha.net/ORDO/Orphanet_183580 |
Odontomatosis - aortae esophagus stenosis | http://www.orpha.net/ORDO/Orphanet_2724 | http://www.orpha.net/ORDO/Orphanet_183580 |
Blepharoptosis - cleft palate - ectrodactyly - dental anomalies | http://www.orpha.net/ORDO/Orphanet_1258 | http://www.orpha.net/ORDO/Orphanet_183580 |
Natal teeth - intestinal pseudoobstruction - patent ductus | http://www.orpha.net/ORDO/Orphanet_1654 | http://www.orpha.net/ORDO/Orphanet_183580 |
Genetic head and neck malformation | http://www.orpha.net/ORDO/Orphanet_183583 | http://www.orpha.net/ORDO/Orphanet_183530 |
Rare otorhinolaryngological malformation | http://www.orpha.net/ORDO/Orphanet_96333 | http://www.orpha.net/ORDO/Orphanet_183583 |
Tracheal anomaly | http://www.orpha.net/ORDO/Orphanet_156252 | http://www.orpha.net/ORDO/Orphanet_96333 |
Congenital tracheal stenosis | http://www.orpha.net/ORDO/Orphanet_141127 | http://www.orpha.net/ORDO/Orphanet_156252 |
Syndrome or malformation associated with head and neck malformations | http://www.orpha.net/ORDO/Orphanet_156237 | http://www.orpha.net/ORDO/Orphanet_96333 |
Genetic syndromic Pierre Robin syndrome | http://www.orpha.net/ORDO/Orphanet_363294 | http://www.orpha.net/ORDO/Orphanet_156237 |
Pierre Robin syndrome associated with branchial archs anomalies | http://www.orpha.net/ORDO/Orphanet_138050 | http://www.orpha.net/ORDO/Orphanet_363294 |
Pierre Robin syndrome associated with a chromosomal anomaly | http://www.orpha.net/ORDO/Orphanet_138047 | http://www.orpha.net/ORDO/Orphanet_363294 |
Pierre Robin syndrome associated with collagen disease | http://www.orpha.net/ORDO/Orphanet_138041 | http://www.orpha.net/ORDO/Orphanet_363294 |
Pierre Robin syndrome associated with miscellaneous anomalies | http://www.orpha.net/ORDO/Orphanet_138066 | http://www.orpha.net/ORDO/Orphanet_363294 |
Syndrome associated with Pierre Robin syndrome | http://www.orpha.net/ORDO/Orphanet_138063 | http://www.orpha.net/ORDO/Orphanet_363294 |
Pierre Robin syndrome associated with bone disease | http://www.orpha.net/ORDO/Orphanet_138055 | http://www.orpha.net/ORDO/Orphanet_363294 |
Orofacial clefting syndrome | http://www.orpha.net/ORDO/Orphanet_139039 | http://www.orpha.net/ORDO/Orphanet_156237 |
Cleft palate - large ears - small head | http://www.orpha.net/ORDO/Orphanet_2013 | http://www.orpha.net/ORDO/Orphanet_139039 |
Dysmorphism - cleft palate - loose skin | http://www.orpha.net/ORDO/Orphanet_1779 | http://www.orpha.net/ORDO/Orphanet_139039 |
Syngnathia - cleft palate | http://www.orpha.net/ORDO/Orphanet_3263 | http://www.orpha.net/ORDO/Orphanet_139039 |
Robin sequence - oligodactyly | http://www.orpha.net/ORDO/Orphanet_3104 | http://www.orpha.net/ORDO/Orphanet_139039 |
Thrombocytopenia - Robin sequence | http://www.orpha.net/ORDO/Orphanet_3323 | http://www.orpha.net/ORDO/Orphanet_139039 |
Pierre Robin syndrome - faciodigital anomaly | http://www.orpha.net/ORDO/Orphanet_2888 | http://www.orpha.net/ORDO/Orphanet_139039 |
Medeira-Dennis-Donnai syndrome | http://www.orpha.net/ORDO/Orphanet_2476 | http://www.orpha.net/ORDO/Orphanet_139039 |
Larynx anomaly | http://www.orpha.net/ORDO/Orphanet_156249 | http://www.orpha.net/ORDO/Orphanet_96333 |
Congenital laryngomalacia | http://www.orpha.net/ORDO/Orphanet_2373 | http://www.orpha.net/ORDO/Orphanet_156249 |
Congenital laryngeal web | http://www.orpha.net/ORDO/Orphanet_2374 | http://www.orpha.net/ORDO/Orphanet_156249 |
Larynx atresia | http://www.orpha.net/ORDO/Orphanet_1202 | http://www.orpha.net/ORDO/Orphanet_156249 |
Otomandibular dysplasia | http://www.orpha.net/ORDO/Orphanet_155896 | http://www.orpha.net/ORDO/Orphanet_96333 |
Otomandibular dysplasia associated with monogenic syndromes | http://www.orpha.net/ORDO/Orphanet_156202 | http://www.orpha.net/ORDO/Orphanet_155896 |
Oculo-auriculo-vertebral spectrum | http://www.orpha.net/ORDO/Orphanet_141132 | http://www.orpha.net/ORDO/Orphanet_155896 |
Hemifacial microsomia | http://www.orpha.net/ORDO/Orphanet_141136 | http://www.orpha.net/ORDO/Orphanet_141132 |
Mandibulofacial dysostosis | http://www.orpha.net/ORDO/Orphanet_155899 | http://www.orpha.net/ORDO/Orphanet_155896 |
Hypoglossia/aglossia | http://www.orpha.net/ORDO/Orphanet_156212 | http://www.orpha.net/ORDO/Orphanet_183583 |
Oromandibular-limb anomalies syndrome | http://www.orpha.net/ORDO/Orphanet_156215 | http://www.orpha.net/ORDO/Orphanet_156212 |
Isolated congenital hypoglossia/aglossia | http://www.orpha.net/ORDO/Orphanet_141152 | http://www.orpha.net/ORDO/Orphanet_156212 |
Paralytic facial malformation | http://www.orpha.net/ORDO/Orphanet_156224 | http://www.orpha.net/ORDO/Orphanet_183583 |
Macroglossia | http://www.orpha.net/ORDO/Orphanet_156207 | http://www.orpha.net/ORDO/Orphanet_183583 |
Congenital macroglossia | http://www.orpha.net/ORDO/Orphanet_2430 | http://www.orpha.net/ORDO/Orphanet_156207 |
Hemifacial hypertrophy | http://www.orpha.net/ORDO/Orphanet_141145 | http://www.orpha.net/ORDO/Orphanet_156207 |
Familial median cleft of the upper and lower lips | http://www.orpha.net/ORDO/Orphanet_401942 | http://www.orpha.net/ORDO/Orphanet_183583 |
Oblique facial cleft | http://www.orpha.net/ORDO/Orphanet_141253 | http://www.orpha.net/ORDO/Orphanet_183583 |
Coloboma of superior eyelid | http://www.orpha.net/ORDO/Orphanet_155884 | http://www.orpha.net/ORDO/Orphanet_141253 |
Coloboma of inferior eyelid | http://www.orpha.net/ORDO/Orphanet_155889 | http://www.orpha.net/ORDO/Orphanet_141253 |
Lateral facial cleft | http://www.orpha.net/ORDO/Orphanet_141269 | http://www.orpha.net/ORDO/Orphanet_183583 |
Commissural facial cleft | http://www.orpha.net/ORDO/Orphanet_141276 | http://www.orpha.net/ORDO/Orphanet_141269 |
Rare genetic bone disease | http://www.orpha.net/ORDO/Orphanet_183524 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Congenital vascular bone syndrome | http://www.orpha.net/ORDO/Orphanet_235832 | http://www.orpha.net/ORDO/Orphanet_183524 |
Primary intraosseous vascular malformation | http://www.orpha.net/ORDO/Orphanet_140436 | http://www.orpha.net/ORDO/Orphanet_235832 |
Inverse Klippel-Trénaunay syndrome | http://www.orpha.net/ORDO/Orphanet_329324 | http://www.orpha.net/ORDO/Orphanet_235832 |
Angioosteohypotrophic syndrome | http://www.orpha.net/ORDO/Orphanet_75508 | http://www.orpha.net/ORDO/Orphanet_235832 |
Osteonecrosis of genetic origin | http://www.orpha.net/ORDO/Orphanet_399380 | http://www.orpha.net/ORDO/Orphanet_183524 |
Osteochondrosis of genetic origin | http://www.orpha.net/ORDO/Orphanet_399391 | http://www.orpha.net/ORDO/Orphanet_399380 |
Familial Scheuermann disease | http://www.orpha.net/ORDO/Orphanet_3135 | http://www.orpha.net/ORDO/Orphanet_399391 |
Avascular necrosis of genetic origin | http://www.orpha.net/ORDO/Orphanet_399388 | http://www.orpha.net/ORDO/Orphanet_399380 |
Familial avascular necrosis of femoral head | http://www.orpha.net/ORDO/Orphanet_86820 | http://www.orpha.net/ORDO/Orphanet_399388 |
Rare hereditary disease with avascular necrosis | http://www.orpha.net/ORDO/Orphanet_399185 | http://www.orpha.net/ORDO/Orphanet_399388 |
Familial osteochondritis dissecans | http://www.orpha.net/ORDO/Orphanet_251262 | http://www.orpha.net/ORDO/Orphanet_399380 |
Lysosomal storage disease with skeletal involvement | http://www.orpha.net/ORDO/Orphanet_93448 | http://www.orpha.net/ORDO/Orphanet_183524 |
Rare bone disease related to a common gene or pathway defect | http://www.orpha.net/ORDO/Orphanet_364803 | http://www.orpha.net/ORDO/Orphanet_183524 |
Type 11 collagen-related bone disorder | http://www.orpha.net/ORDO/Orphanet_93422 | http://www.orpha.net/ORDO/Orphanet_364803 |
Sulfation-related bone disorder | http://www.orpha.net/ORDO/Orphanet_93423 | http://www.orpha.net/ORDO/Orphanet_364803 |
Perlecan-related bone disorder | http://www.orpha.net/ORDO/Orphanet_93424 | http://www.orpha.net/ORDO/Orphanet_364803 |
Filamin-related bone disorder | http://www.orpha.net/ORDO/Orphanet_93425 | http://www.orpha.net/ORDO/Orphanet_364803 |
Type 2 collagen-related bone disorder | http://www.orpha.net/ORDO/Orphanet_93421 | http://www.orpha.net/ORDO/Orphanet_364803 |
Legg-Calvé-Perthes disease | http://www.orpha.net/ORDO/Orphanet_2380 | http://www.orpha.net/ORDO/Orphanet_93421 |
Aggrecan-related bone disorder | http://www.orpha.net/ORDO/Orphanet_364817 | http://www.orpha.net/ORDO/Orphanet_364803 |
Webb-Dattani syndrome | http://purl.obolibrary.org/obo/MONDO_0014404 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Rare genetic odontologic disease | http://www.orpha.net/ORDO/Orphanet_77830 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Rare odontal or periodontal disorder | http://www.orpha.net/ORDO/Orphanet_164001 | http://www.orpha.net/ORDO/Orphanet_77830 |
Primary failure of tooth eruption | http://www.orpha.net/ORDO/Orphanet_412206 | http://www.orpha.net/ORDO/Orphanet_164001 |
Fused mandibular incisors | http://www.orpha.net/ORDO/Orphanet_2287 | http://www.orpha.net/ORDO/Orphanet_164001 |
Amelogenesis imperfecta | http://www.orpha.net/ORDO/Orphanet_88661 | http://www.orpha.net/ORDO/Orphanet_164001 |
Hypoplastic amelogenesis imperfecta | http://www.orpha.net/ORDO/Orphanet_100031 | http://www.orpha.net/ORDO/Orphanet_88661 |
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | http://www.orpha.net/ORDO/Orphanet_100034 | http://www.orpha.net/ORDO/Orphanet_88661 |
Hypocalcified amelogenesis imperfecta | http://www.orpha.net/ORDO/Orphanet_100032 | http://www.orpha.net/ORDO/Orphanet_88661 |
Hypomaturation amelogenesis imperfecta | http://www.orpha.net/ORDO/Orphanet_100033 | http://www.orpha.net/ORDO/Orphanet_88661 |
Taurodontism | http://www.orpha.net/ORDO/Orphanet_3289 | http://www.orpha.net/ORDO/Orphanet_164001 |
Amelogenesis imperfecta and gingival hyperplasia syndrome | http://www.orpha.net/ORDO/Orphanet_171836 | http://www.orpha.net/ORDO/Orphanet_164001 |
Anodontia | http://www.orpha.net/ORDO/Orphanet_99797 | http://www.orpha.net/ORDO/Orphanet_164001 |
Hereditary dentin defect | http://www.orpha.net/ORDO/Orphanet_167759 | http://www.orpha.net/ORDO/Orphanet_164001 |
Dentinogenesis imperfecta | http://www.orpha.net/ORDO/Orphanet_49042 | http://www.orpha.net/ORDO/Orphanet_167759 |
Dentinogenesis imperfecta type 2 | http://www.orpha.net/ORDO/Orphanet_166260 | http://www.orpha.net/ORDO/Orphanet_49042 |
Dentinogenesis imperfecta type 3 | http://www.orpha.net/ORDO/Orphanet_166265 | http://www.orpha.net/ORDO/Orphanet_49042 |
Dentin dysplasia | http://www.orpha.net/ORDO/Orphanet_1653 | http://www.orpha.net/ORDO/Orphanet_167759 |
Atypical dentin dysplasia due to SMOC2 deficiency | http://www.orpha.net/ORDO/Orphanet_314721 | http://www.orpha.net/ORDO/Orphanet_1653 |
Dentin dysplasia type II | http://www.orpha.net/ORDO/Orphanet_99791 | http://www.orpha.net/ORDO/Orphanet_1653 |
Dentin dysplasia type I | http://www.orpha.net/ORDO/Orphanet_99789 | http://www.orpha.net/ORDO/Orphanet_1653 |
Dentin dysplasia - sclerotic bones | http://www.orpha.net/ORDO/Orphanet_99792 | http://www.orpha.net/ORDO/Orphanet_77830 |
Malformative syndrome with dentinogenesis imperfecta | http://www.orpha.net/ORDO/Orphanet_180766 | http://www.orpha.net/ORDO/Orphanet_77830 |
Rare disease with dentinogenesis imperfecta | http://www.orpha.net/ORDO/Orphanet_167762 | http://www.orpha.net/ORDO/Orphanet_77830 |
Tenorio syndrome | http://purl.obolibrary.org/obo/MONDO_0014553 | http://www.ebi.ac.uk/efo/EFO_0000508 |
oligodontia-cancer predisposition syndrome | http://purl.obolibrary.org/obo/MONDO_0012075 | http://www.ebi.ac.uk/efo/EFO_0000508 |
hereditary hypophosphatemic rickets | http://purl.obolibrary.org/obo/MONDO_0000044 | http://www.ebi.ac.uk/efo/EFO_0000508 |
hereditary hypophosphatemic rickets with hypercalciuria | http://purl.obolibrary.org/obo/MONDO_0009431 | http://purl.obolibrary.org/obo/MONDO_0000044 |
febrile seizures, familial | http://purl.obolibrary.org/obo/MONDO_0000032 | http://www.ebi.ac.uk/efo/EFO_0000508 |
polyglucosan body myopathy | http://purl.obolibrary.org/obo/MONDO_0000192 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Luscan-Lumish syndrome | http://purl.obolibrary.org/obo/MONDO_0014791 | http://www.ebi.ac.uk/efo/EFO_0000508 |
exercise intolerance, riboflavin-responsive | http://purl.obolibrary.org/obo/MONDO_0014795 | http://www.ebi.ac.uk/efo/EFO_0000508 |
leukodystrophy and acquired microcephaly with or without dystonia; | http://purl.obolibrary.org/obo/MONDO_0014766 | http://www.ebi.ac.uk/efo/EFO_0000508 |
cerebelloparenchymal disorder | http://purl.obolibrary.org/obo/MONDO_0000114 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Chiari malformation | http://purl.obolibrary.org/obo/MONDO_0000115 | http://www.ebi.ac.uk/efo/EFO_0000508 |
camptodactyly syndrome, Guadalajara | http://purl.obolibrary.org/obo/MONDO_0000111 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Mullegama-Klein-Martinez syndrome | http://purl.obolibrary.org/obo/MONDO_0026722 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Alazami-Yuan syndrome | http://purl.obolibrary.org/obo/MONDO_0014931 | http://www.ebi.ac.uk/efo/EFO_0000508 |
genetic skin disease | http://purl.obolibrary.org/obo/MONDO_0024255 | http://www.ebi.ac.uk/efo/EFO_0000508 |
genetic epidermal appendage anomaly | http://purl.obolibrary.org/obo/MONDO_0021026 | http://purl.obolibrary.org/obo/MONDO_0024255 |
genetic sebaceous gland anomaly | http://purl.obolibrary.org/obo/MONDO_0021029 | http://purl.obolibrary.org/obo/MONDO_0021026 |
sebocystomatosis | http://purl.obolibrary.org/obo/MONDO_0008485 | http://purl.obolibrary.org/obo/MONDO_0021029 |
genetic hair anomaly | http://purl.obolibrary.org/obo/MONDO_0021027 | http://purl.obolibrary.org/obo/MONDO_0021026 |
genetic alopecia | http://purl.obolibrary.org/obo/MONDO_0021034 | http://purl.obolibrary.org/obo/MONDO_0021027 |
central centrifugal cicatricial alopecia | http://purl.obolibrary.org/obo/MONDO_0022113 | http://purl.obolibrary.org/obo/MONDO_0021034 |
alopecia, isolated | http://purl.obolibrary.org/obo/MONDO_0000005 | http://purl.obolibrary.org/obo/MONDO_0021034 |
alopecia universalis congenita | http://purl.obolibrary.org/obo/MONDO_0008757 | http://purl.obolibrary.org/obo/MONDO_0000005 |
atrichia with papular lesions | http://purl.obolibrary.org/obo/MONDO_0008847 | http://purl.obolibrary.org/obo/MONDO_0021034 |
hypertrichosis | http://purl.obolibrary.org/obo/MONDO_0019280 | http://purl.obolibrary.org/obo/MONDO_0021027 |
isolated anterior cervical hypertrichosis | http://purl.obolibrary.org/obo/MONDO_0010887 | http://purl.obolibrary.org/obo/MONDO_0019280 |
isolated genetic hair shaft abnormality | http://purl.obolibrary.org/obo/MONDO_0019281 | http://purl.obolibrary.org/obo/MONDO_0021027 |
pili bifurcati | http://purl.obolibrary.org/obo/MONDO_0019120 | http://purl.obolibrary.org/obo/MONDO_0019281 |
pili torti | http://purl.obolibrary.org/obo/MONDO_0009870 | http://purl.obolibrary.org/obo/MONDO_0019281 |
pili gemini | http://purl.obolibrary.org/obo/MONDO_0019330 | http://purl.obolibrary.org/obo/MONDO_0019281 |
ringed hair disease | http://purl.obolibrary.org/obo/MONDO_0008388 | http://purl.obolibrary.org/obo/MONDO_0019281 |
isolated familial woolly hair disorder | http://purl.obolibrary.org/obo/MONDO_0008686 | http://purl.obolibrary.org/obo/MONDO_0019281 |
uncombable hair syndrome | http://purl.obolibrary.org/obo/MONDO_0008621 | http://purl.obolibrary.org/obo/MONDO_0019281 |
genetic nail anomaly | http://purl.obolibrary.org/obo/MONDO_0021028 | http://purl.obolibrary.org/obo/MONDO_0021026 |
inherited isolated nail anomaly | http://purl.obolibrary.org/obo/MONDO_0019284 | http://purl.obolibrary.org/obo/MONDO_0021028 |
nonsyndromic congenital nail disorder 7 | http://purl.obolibrary.org/obo/MONDO_0011595 | http://purl.obolibrary.org/obo/MONDO_0019284 |
nonsyndromic congenital nail disorder 1 | http://purl.obolibrary.org/obo/MONDO_0008060 | http://purl.obolibrary.org/obo/MONDO_0019284 |
isolated congenital anonychia | http://purl.obolibrary.org/obo/MONDO_0019211 | http://purl.obolibrary.org/obo/MONDO_0019284 |
anonychia-onychodystrophy syndrome | http://purl.obolibrary.org/obo/MONDO_0019577 | http://purl.obolibrary.org/obo/MONDO_0019211 |
nonsyndromic congenital nail disorder 4 | http://purl.obolibrary.org/obo/MONDO_0008798 | http://purl.obolibrary.org/obo/MONDO_0019211 |
leukonychia totalis | http://purl.obolibrary.org/obo/MONDO_0016557 | http://purl.obolibrary.org/obo/MONDO_0019284 |
familial pityriasis rubra pilaris | http://purl.obolibrary.org/obo/MONDO_0008251 | http://purl.obolibrary.org/obo/MONDO_0024255 |
progressive osseous heteroplasia | http://purl.obolibrary.org/obo/MONDO_0008153 | http://purl.obolibrary.org/obo/MONDO_0024255 |
inherited ichthyosis | http://purl.obolibrary.org/obo/MONDO_0015947 | http://purl.obolibrary.org/obo/MONDO_0024255 |
inherited non-syndromic ichthyosis | http://purl.obolibrary.org/obo/MONDO_0017262 | http://purl.obolibrary.org/obo/MONDO_0015947 |
peeling skin syndrome | http://purl.obolibrary.org/obo/MONDO_0019347 | http://purl.obolibrary.org/obo/MONDO_0017262 |
peeling skin syndrome 6 | http://purl.obolibrary.org/obo/MONDO_0054852 | http://purl.obolibrary.org/obo/MONDO_0019347 |
generalized peeling skin syndrome | http://purl.obolibrary.org/obo/MONDO_0010033 | http://purl.obolibrary.org/obo/MONDO_0019347 |
peeling skin syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0024548 | http://purl.obolibrary.org/obo/MONDO_0010033 |
generalized peeling skin syndrome type C | http://purl.obolibrary.org/obo/MONDO_0016993 | http://purl.obolibrary.org/obo/MONDO_0010033 |
peeling skin syndrome type A | http://purl.obolibrary.org/obo/MONDO_0014555 | http://purl.obolibrary.org/obo/MONDO_0010033 |
acral peeling skin syndrome | http://purl.obolibrary.org/obo/MONDO_0012345 | http://purl.obolibrary.org/obo/MONDO_0019347 |
keratinopathic ichthyosis | http://purl.obolibrary.org/obo/MONDO_0017266 | http://purl.obolibrary.org/obo/MONDO_0017262 |
epidermolytic ichthyosis | http://purl.obolibrary.org/obo/MONDO_0007239 | http://purl.obolibrary.org/obo/MONDO_0017266 |
ichthyosis hystrix of Curth-Macklin | http://purl.obolibrary.org/obo/MONDO_0007808 | http://purl.obolibrary.org/obo/MONDO_0017266 |
ichthyosis hystrix gravior | http://purl.obolibrary.org/obo/MONDO_0007809 | http://purl.obolibrary.org/obo/MONDO_0017266 |
congenital reticular ichthyosiform erythroderma | http://purl.obolibrary.org/obo/MONDO_0012208 | http://purl.obolibrary.org/obo/MONDO_0017262 |
hereditary photodermatosis | http://purl.obolibrary.org/obo/MONDO_0015951 | http://purl.obolibrary.org/obo/MONDO_0024255 |
lichen planus, familial | http://purl.obolibrary.org/obo/MONDO_0007902 | http://purl.obolibrary.org/obo/MONDO_0024255 |
aplasia cutis congenita | http://purl.obolibrary.org/obo/MONDO_0007145 | http://purl.obolibrary.org/obo/MONDO_0024255 |
inherited epidermolysis bullosa | http://purl.obolibrary.org/obo/MONDO_0019276 | http://purl.obolibrary.org/obo/MONDO_0024255 |
Familial primary localized cutaneous amyloidosis | http://www.orpha.net/ORDO/Orphanet_353220 | http://purl.obolibrary.org/obo/MONDO_0019276 |
Linear atrophoderma of Moulin | http://www.orpha.net/ORDO/Orphanet_140933 | http://purl.obolibrary.org/obo/MONDO_0019276 |
Kindler syndrome | http://purl.obolibrary.org/obo/MONDO_0008260 | http://purl.obolibrary.org/obo/MONDO_0019276 |
hereditary acrokeratotic poikiloderma, Weary type | http://purl.obolibrary.org/obo/MONDO_0017365 | http://purl.obolibrary.org/obo/MONDO_0008260 |
Genetic dermis elastic tissue disorder | http://www.orpha.net/ORDO/Orphanet_228215 | http://purl.obolibrary.org/obo/MONDO_0019276 |
Familial anetoderma | http://www.orpha.net/ORDO/Orphanet_228277 | http://www.orpha.net/ORDO/Orphanet_228215 |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | http://www.orpha.net/ORDO/Orphanet_91135 | http://www.orpha.net/ORDO/Orphanet_228215 |
Familial cutaneous collagenoma | http://www.orpha.net/ORDO/Orphanet_53296 | http://www.orpha.net/ORDO/Orphanet_228215 |
Familial reactive perforating collagenosis | http://www.orpha.net/ORDO/Orphanet_79147 | http://www.orpha.net/ORDO/Orphanet_228215 |
epidermolysis bullosa simplex | http://purl.obolibrary.org/obo/MONDO_0017610 | http://purl.obolibrary.org/obo/MONDO_0019276 |
suprabasal epidermolysis bullosa simplex | http://purl.obolibrary.org/obo/MONDO_0015550 | http://purl.obolibrary.org/obo/MONDO_0017610 |
epidermolysis bullosa simplex superficialis | http://purl.obolibrary.org/obo/MONDO_0011869 | http://purl.obolibrary.org/obo/MONDO_0015550 |
lethal acantholytic epidermolysis bullosa | http://purl.obolibrary.org/obo/MONDO_0012323 | http://purl.obolibrary.org/obo/MONDO_0015550 |
epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive | http://purl.obolibrary.org/obo/MONDO_0010976 | http://purl.obolibrary.org/obo/MONDO_0017610 |
epidermolysis bullosa simplex 1A, generalized severe | http://purl.obolibrary.org/obo/MONDO_0007550 | http://purl.obolibrary.org/obo/MONDO_0017610 |
epidermolysis bullosa simplex 1C, localized | http://purl.obolibrary.org/obo/MONDO_0007551 | http://purl.obolibrary.org/obo/MONDO_0017610 |
epidermolysis bullosa simplex 1B, generalized intermediate | http://purl.obolibrary.org/obo/MONDO_0007554 | http://purl.obolibrary.org/obo/MONDO_0017610 |
epidermolysis bullosa simplex 2F, with mottled pigmentation | http://purl.obolibrary.org/obo/MONDO_0007556 | http://purl.obolibrary.org/obo/MONDO_0017610 |
pidermolysis bullosa simplex 5A, Ogna type | http://purl.obolibrary.org/obo/MONDO_0007555 | http://purl.obolibrary.org/obo/MONDO_0017610 |
epidermolysis bullosa simplex 5C, with pyloric atresia | http://purl.obolibrary.org/obo/MONDO_0012807 | http://purl.obolibrary.org/obo/MONDO_0017610 |
epidermolysis bullosa simplex with nail dystrophy | http://purl.obolibrary.org/obo/MONDO_0014661 | http://purl.obolibrary.org/obo/MONDO_0017610 |
epidermolysis bullosa simplex 2E, with migratory circinate erythema | http://purl.obolibrary.org/obo/MONDO_0012258 | http://purl.obolibrary.org/obo/MONDO_0017610 |
epidermolysis bullosa simplex with anodontia/hypodontia | http://purl.obolibrary.org/obo/MONDO_0016514 | http://purl.obolibrary.org/obo/MONDO_0017610 |
epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | http://purl.obolibrary.org/obo/MONDO_0014180 | http://purl.obolibrary.org/obo/MONDO_0017610 |
junctional epidermolysis bullosa | http://purl.obolibrary.org/obo/MONDO_0017612 | http://purl.obolibrary.org/obo/MONDO_0019276 |
junctional epidermolysis bullosa inversa | http://purl.obolibrary.org/obo/MONDO_0019308 | http://purl.obolibrary.org/obo/MONDO_0017612 |
late-onset junctional epidermolysis bullosa | http://purl.obolibrary.org/obo/MONDO_0019309 | http://purl.obolibrary.org/obo/MONDO_0017612 |
junctional epidermolysis bullosa, non-Herlitz type | http://purl.obolibrary.org/obo/MONDO_0009180 | http://purl.obolibrary.org/obo/MONDO_0017612 |
generalized junctional epidermolysis bullosa non-Herlitz type | http://purl.obolibrary.org/obo/MONDO_0019307 | http://purl.obolibrary.org/obo/MONDO_0009180 |
localized junctional epidermolysis bullosa, non-Herlitz type | http://purl.obolibrary.org/obo/MONDO_0016673 | http://purl.obolibrary.org/obo/MONDO_0009180 |
junctional epidermolysis bullosa Herlitz type | http://purl.obolibrary.org/obo/MONDO_0009182 | http://purl.obolibrary.org/obo/MONDO_0017612 |
junctional epidermolysis bullosa with pyloric atresia | http://purl.obolibrary.org/obo/MONDO_0009183 | http://purl.obolibrary.org/obo/MONDO_0017612 |
late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0009177 | http://purl.obolibrary.org/obo/MONDO_0017612 |
Antecubital pterygium syndrome | http://www.orpha.net/ORDO/Orphanet_2987 | http://purl.obolibrary.org/obo/MONDO_0019276 |
Genetic mixed dermis disorder | http://www.orpha.net/ORDO/Orphanet_183481 | http://purl.obolibrary.org/obo/MONDO_0019276 |
Circumscribed cutaneous aplasia of the vertex | http://www.orpha.net/ORDO/Orphanet_1114 | http://www.orpha.net/ORDO/Orphanet_183481 |
Genetic skin vascular disorder | http://www.orpha.net/ORDO/Orphanet_183478 | http://purl.obolibrary.org/obo/MONDO_0019276 |
Familial multiple nevi flammei | http://www.orpha.net/ORDO/Orphanet_624 | http://www.orpha.net/ORDO/Orphanet_183478 |
Angioma serpiginosum | http://www.orpha.net/ORDO/Orphanet_95429 | http://www.orpha.net/ORDO/Orphanet_183478 |
Chilblain lupus | http://www.orpha.net/ORDO/Orphanet_90280 | http://www.orpha.net/ORDO/Orphanet_183478 |
epidermolysis bullosa dystrophica | http://www.ebi.ac.uk/efo/EFO_1000692 | http://purl.obolibrary.org/obo/MONDO_0019276 |
dystrophic epidermolysis bullosa pruriginosa | http://purl.obolibrary.org/obo/MONDO_0011398 | http://www.ebi.ac.uk/efo/EFO_1000692 |
acral dystrophic epidermolysis bullosa | http://purl.obolibrary.org/obo/MONDO_0015552 | http://www.ebi.ac.uk/efo/EFO_1000692 |
dystrophic epidermolysis bullosa, nails only | http://purl.obolibrary.org/obo/MONDO_0015553 | http://www.ebi.ac.uk/efo/EFO_1000692 |
pretibial dystrophic epidermolysis bullosa | http://purl.obolibrary.org/obo/MONDO_0007552 | http://www.ebi.ac.uk/efo/EFO_1000692 |
generalized dominant dystrophic epidermolysis bullosa | http://purl.obolibrary.org/obo/MONDO_0007549 | http://www.ebi.ac.uk/efo/EFO_1000692 |
transient bullous dermolysis of the newborn | http://purl.obolibrary.org/obo/MONDO_0007548 | http://www.ebi.ac.uk/efo/EFO_1000692 |
centripetalis recessive dystrophic epidermolysis bullosa | http://purl.obolibrary.org/obo/MONDO_0019521 | http://www.ebi.ac.uk/efo/EFO_1000692 |
recessive dystrophic epidermolysis bullosa-generalized other | http://purl.obolibrary.org/obo/MONDO_0019522 | http://www.ebi.ac.uk/efo/EFO_1000692 |
recessive dystrophic epidermolysis bullosa | http://purl.obolibrary.org/obo/MONDO_0009179 | http://www.ebi.ac.uk/efo/EFO_1000692 |
recessive dystrophic epidermolysis bullosa inversa | http://purl.obolibrary.org/obo/MONDO_0019310 | http://purl.obolibrary.org/obo/MONDO_0009179 |
Darier disease | http://purl.obolibrary.org/obo/MONDO_0007417 | http://purl.obolibrary.org/obo/MONDO_0024255 |
absence of fingerprints-congenital milia syndrome | http://purl.obolibrary.org/obo/MONDO_0007507 | http://purl.obolibrary.org/obo/MONDO_0024255 |
hereditary angioedema | http://purl.obolibrary.org/obo/MONDO_0019623 | http://purl.obolibrary.org/obo/MONDO_0024255 |
hereditary angioedema with normal C1Inh | http://purl.obolibrary.org/obo/MONDO_0033947 | http://purl.obolibrary.org/obo/MONDO_0019623 |
hereditary angioedema type 3 | http://purl.obolibrary.org/obo/MONDO_0012526 | http://purl.obolibrary.org/obo/MONDO_0033947 |
osteopathia striata-pigmentary dermopathy-white forelock syndrome | http://purl.obolibrary.org/obo/MONDO_0017197 | http://purl.obolibrary.org/obo/MONDO_0024255 |
hyperpigmentation with or without hypopigmentation, familial progressive | http://purl.obolibrary.org/obo/MONDO_0007771 | http://purl.obolibrary.org/obo/MONDO_0024255 |
familial progressive hyper- and hypopigmentation | http://purl.obolibrary.org/obo/MONDO_0017239 | http://purl.obolibrary.org/obo/MONDO_0007771 |
lichen sclerosus et atrophicus | http://purl.obolibrary.org/obo/MONDO_0007899 | http://purl.obolibrary.org/obo/MONDO_0024255 |
Vulvar Lichen Sclerosus | http://www.ebi.ac.uk/efo/EFO_1000623 | http://purl.obolibrary.org/obo/MONDO_0007899 |
seborrhea-like dermatitis with psoriasiform elements | http://purl.obolibrary.org/obo/MONDO_0012446 | http://purl.obolibrary.org/obo/MONDO_0024255 |
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | http://purl.obolibrary.org/obo/MONDO_0012570 | http://purl.obolibrary.org/obo/MONDO_0024255 |
familial acne inversa | http://purl.obolibrary.org/obo/MONDO_0024516 | http://purl.obolibrary.org/obo/MONDO_0024255 |
acne inversa, familial, 1 | http://purl.obolibrary.org/obo/MONDO_0007728 | http://purl.obolibrary.org/obo/MONDO_0024516 |
dyschromatosis universalis hereditaria | http://purl.obolibrary.org/obo/MONDO_0000736 | http://purl.obolibrary.org/obo/MONDO_0024255 |
hyperpigmentation of eyelid | http://www.ebi.ac.uk/efo/EFO_1000711 | http://purl.obolibrary.org/obo/MONDO_0024255 |
dermatosis papulosa nigra | http://www.ebi.ac.uk/efo/EFO_1000686 | http://purl.obolibrary.org/obo/MONDO_0024255 |
familial acanthosis nigricans | http://purl.obolibrary.org/obo/MONDO_0043003 | http://purl.obolibrary.org/obo/MONDO_0024255 |
lentigo | http://purl.obolibrary.org/obo/MONDO_0021582 | http://purl.obolibrary.org/obo/MONDO_0024255 |
stiff skin syndrome | http://purl.obolibrary.org/obo/MONDO_0008492 | http://purl.obolibrary.org/obo/MONDO_0024255 |
keratosis pilaris atrophicans | http://purl.obolibrary.org/obo/MONDO_0018855 | http://purl.obolibrary.org/obo/MONDO_0024255 |
ulerythema ophryogenesis | http://purl.obolibrary.org/obo/MONDO_0018086 | http://purl.obolibrary.org/obo/MONDO_0018855 |
atrophoderma vermiculata | http://purl.obolibrary.org/obo/MONDO_0008849 | http://purl.obolibrary.org/obo/MONDO_0018855 |
reticulate pigment disorder | http://purl.obolibrary.org/obo/MONDO_0000118 | http://purl.obolibrary.org/obo/MONDO_0024255 |
dyschromatosis symmetrica hereditaria | http://purl.obolibrary.org/obo/MONDO_0007483 | http://purl.obolibrary.org/obo/MONDO_0000118 |
reticulate acropigmentation of Kitamura | http://purl.obolibrary.org/obo/MONDO_0014234 | http://purl.obolibrary.org/obo/MONDO_0000118 |
acne | http://www.ebi.ac.uk/efo/EFO_0003894 | http://purl.obolibrary.org/obo/MONDO_0024255 |
macrocephaly, dysmorphic facies, and psychomotor retardation | http://purl.obolibrary.org/obo/MONDO_0014863 | http://www.ebi.ac.uk/efo/EFO_0000508 |
retinitis pigmentosa and erythrocytic microcytosis | http://purl.obolibrary.org/obo/MONDO_0014850 | http://www.ebi.ac.uk/efo/EFO_0000508 |
chorea, childhood-onset, with psychomotor retardation | http://purl.obolibrary.org/obo/MONDO_0014839 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Zimmermann-Laband syndrome | http://purl.obolibrary.org/obo/MONDO_0000200 | http://www.ebi.ac.uk/efo/EFO_0000508 |
dyskinesia, limb and orofacial, infantile-onset | http://purl.obolibrary.org/obo/MONDO_0014834 | http://www.ebi.ac.uk/efo/EFO_0000508 |
trichilemmal cyst | http://purl.obolibrary.org/obo/MONDO_0012328 | http://www.ebi.ac.uk/efo/EFO_0000508 |
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | http://purl.obolibrary.org/obo/MONDO_0014994 | http://www.ebi.ac.uk/efo/EFO_0000508 |
encephalopathy, progressive, with amyotrophy and optic atrophy | http://purl.obolibrary.org/obo/MONDO_0014968 | http://www.ebi.ac.uk/efo/EFO_0000508 |
language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | http://purl.obolibrary.org/obo/MONDO_0014957 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Harel-Yoon syndrome | http://purl.obolibrary.org/obo/MONDO_0014958 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Shashi-Pena syndrome | http://purl.obolibrary.org/obo/MONDO_0014963 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Sifrim-Hitz-Weiss syndrome | http://purl.obolibrary.org/obo/MONDO_0014946 | http://www.ebi.ac.uk/efo/EFO_0000508 |
short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | http://purl.obolibrary.org/obo/MONDO_0014948 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Chitayat syndrome | http://purl.obolibrary.org/obo/MONDO_0014956 | http://www.ebi.ac.uk/efo/EFO_0000508 |
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | http://purl.obolibrary.org/obo/MONDO_0014940 | http://www.ebi.ac.uk/efo/EFO_0000508 |
stag1-related disorder | http://www.ebi.ac.uk/efo/EFO_0009078 | http://www.ebi.ac.uk/efo/EFO_0000508 |
intellectual developmental disorder with dysmorphic facies and ptosis | http://www.ebi.ac.uk/efo/EFO_0009070 | http://www.ebi.ac.uk/efo/EFO_0000508 |
premature chromatid separation trait | http://www.ebi.ac.uk/efo/EFO_0009077 | http://www.ebi.ac.uk/efo/EFO_0000508 |
anomaly of puberty or/and menstrual cycle of genetic origin | http://purl.obolibrary.org/obo/MONDO_0016072 | http://www.ebi.ac.uk/efo/EFO_0000508 |
menstrual cycle-dependent periodic fever | http://purl.obolibrary.org/obo/MONDO_0044660 | http://purl.obolibrary.org/obo/MONDO_0016072 |
clcn4-related disorder | http://www.ebi.ac.uk/efo/EFO_0009066 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Myostatin-related muscle hypertrophy | http://www.orpha.net/ORDO/Orphanet_275534 | http://www.ebi.ac.uk/efo/EFO_0000508 |
squalene synthase deficiency | http://www.ebi.ac.uk/efo/EFO_0010167 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Warburg-Cinotti syndrome | http://www.ebi.ac.uk/efo/EFO_0010166 | http://www.ebi.ac.uk/efo/EFO_0000508 |
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | http://www.ebi.ac.uk/efo/EFO_0009158 | http://www.ebi.ac.uk/efo/EFO_0000508 |
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | http://www.ebi.ac.uk/efo/EFO_0009155 | http://www.ebi.ac.uk/efo/EFO_0000508 |
cone-rod dystrophy and hearing loss | http://www.ebi.ac.uk/efo/EFO_0009151 | http://www.ebi.ac.uk/efo/EFO_0000508 |
ryr1-related disorders | http://www.ebi.ac.uk/efo/EFO_0009143 | http://www.ebi.ac.uk/efo/EFO_0000508 |
inherited pseudoxanthoma elasticum | http://purl.obolibrary.org/obo/MONDO_0100091 | http://www.ebi.ac.uk/efo/EFO_0000508 |
arterial calcification of infancy | http://purl.obolibrary.org/obo/MONDO_0018870 | http://www.ebi.ac.uk/efo/EFO_0000508 |
AP-4 deficiency syndrome | http://purl.obolibrary.org/obo/MONDO_0100176 | http://www.ebi.ac.uk/efo/EFO_0000508 |
nemaline myopathy | http://purl.obolibrary.org/obo/MONDO_0018958 | http://www.ebi.ac.uk/efo/EFO_0000508 |
MYPN-related myopathy | http://purl.obolibrary.org/obo/MONDO_0015023 | http://purl.obolibrary.org/obo/MONDO_0018958 |
myofibrillar myopathy | http://purl.obolibrary.org/obo/MONDO_0018943 | http://www.ebi.ac.uk/efo/EFO_0000508 |
myofibrillar myopathy 6 | http://purl.obolibrary.org/obo/MONDO_0013061 | http://purl.obolibrary.org/obo/MONDO_0018943 |
myofibrillar myopathy 8 | http://purl.obolibrary.org/obo/MONDO_0014993 | http://purl.obolibrary.org/obo/MONDO_0018943 |
myofibrillar myopathy 10 | http://purl.obolibrary.org/obo/MONDO_0033620 | http://purl.obolibrary.org/obo/MONDO_0018943 |
centronuclear myopathy | http://purl.obolibrary.org/obo/MONDO_0018947 | http://www.ebi.ac.uk/efo/EFO_0000508 |
congenital myopathy with internal nuclei and atypical cores | http://purl.obolibrary.org/obo/MONDO_0013890 | http://purl.obolibrary.org/obo/MONDO_0018947 |
myopathy, centronuclear, 6, with fiber-type disproportion | http://purl.obolibrary.org/obo/MONDO_0054695 | http://purl.obolibrary.org/obo/MONDO_0018947 |
McCune-Albright syndrome | http://purl.obolibrary.org/obo/MONDO_0018919 | http://www.ebi.ac.uk/efo/EFO_0000508 |
SELENON-related myopathy | http://purl.obolibrary.org/obo/MONDO_0100100 | http://www.ebi.ac.uk/efo/EFO_0000508 |
RYR1-related myopathy | http://purl.obolibrary.org/obo/MONDO_0100150 | http://www.ebi.ac.uk/efo/EFO_0000508 |
congenital myopathy with myasthenic-like onset | http://purl.obolibrary.org/obo/MONDO_0018528 | http://purl.obolibrary.org/obo/MONDO_0100150 |
familial cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0002945 | http://www.ebi.ac.uk/efo/EFO_0000508 |
isolated noncompaction of the ventricular myocardium | http://www.ebi.ac.uk/efo/EFO_1001802 | http://www.ebi.ac.uk/efo/EFO_0002945 |
familial hypertrophic cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0024573 | http://www.ebi.ac.uk/efo/EFO_0002945 |
hypertrophic cardiomyopathy 17 | http://purl.obolibrary.org/obo/MONDO_0013474 | http://purl.obolibrary.org/obo/MONDO_0024573 |
hypertrophic cardiomyopathy 20 | http://purl.obolibrary.org/obo/MONDO_0013477 | http://purl.obolibrary.org/obo/MONDO_0024573 |
hypertrophic cardiomyopathy 4 | http://purl.obolibrary.org/obo/MONDO_0007268 | http://purl.obolibrary.org/obo/MONDO_0024573 |
hypertrophic cardiomyopathy 12 | http://purl.obolibrary.org/obo/MONDO_0012804 | http://purl.obolibrary.org/obo/MONDO_0024573 |
hypertrophic cardiomyopathy 11 | http://purl.obolibrary.org/obo/MONDO_0012799 | http://purl.obolibrary.org/obo/MONDO_0024573 |
hypertrophic cardiomyopathy 10 | http://purl.obolibrary.org/obo/MONDO_0012112 | http://purl.obolibrary.org/obo/MONDO_0024573 |
hypertrophic cardiomyopathy 26 | http://purl.obolibrary.org/obo/MONDO_0014883 | http://purl.obolibrary.org/obo/MONDO_0024573 |
familial restrictive cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0016340 | http://www.ebi.ac.uk/efo/EFO_0002945 |
familial isolated restrictive cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0019150 | http://purl.obolibrary.org/obo/MONDO_0016340 |
familial isolated arrhythmogenic right ventricular dysplasia | http://purl.obolibrary.org/obo/MONDO_0016342 | http://www.ebi.ac.uk/efo/EFO_0002945 |
arrhythmogenic right ventricular dysplasia 5 | http://purl.obolibrary.org/obo/MONDO_0011459 | http://purl.obolibrary.org/obo/MONDO_0016342 |
arrhythmogenic right ventricular dysplasia 8 | http://purl.obolibrary.org/obo/MONDO_0011831 | http://purl.obolibrary.org/obo/MONDO_0016342 |
familial isolated arrhythmogenic ventricular dysplasia, left dominant form | http://purl.obolibrary.org/obo/MONDO_0017401 | http://purl.obolibrary.org/obo/MONDO_0016342 |
familial isolated arrhythmogenic ventricular dysplasia, right dominant form | http://purl.obolibrary.org/obo/MONDO_0017403 | http://purl.obolibrary.org/obo/MONDO_0016342 |
familial isolated arrhythmogenic ventricular dysplasia, biventricular form | http://purl.obolibrary.org/obo/MONDO_0017402 | http://purl.obolibrary.org/obo/MONDO_0016342 |
arrhythmogenic right ventricular dysplasia 1 | http://purl.obolibrary.org/obo/MONDO_0007152 | http://purl.obolibrary.org/obo/MONDO_0016342 |
arrhythmogenic right ventricular dysplasia, familial, 14 | http://purl.obolibrary.org/obo/MONDO_0030062 | http://purl.obolibrary.org/obo/MONDO_0016342 |
familial dilated cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0016333 | http://www.ebi.ac.uk/efo/EFO_0002945 |
dilated cardiomyopathy 1J | http://purl.obolibrary.org/obo/MONDO_0011541 | http://purl.obolibrary.org/obo/MONDO_0016333 |
familial isolated dilated cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0015470 | http://purl.obolibrary.org/obo/MONDO_0016333 |
COACH syndrome | http://purl.obolibrary.org/obo/MONDO_0100349 | http://www.ebi.ac.uk/efo/EFO_0000508 |
SEC61A1 deficiency | http://purl.obolibrary.org/obo/MONDO_0100337 | http://www.ebi.ac.uk/efo/EFO_0000508 |
microcephaly, epilepsy, and diabetes syndrome | http://purl.obolibrary.org/obo/MONDO_0100328 | http://www.ebi.ac.uk/efo/EFO_0000508 |
microcephaly, epilepsy, and diabetes syndrome 1 | http://purl.obolibrary.org/obo/MONDO_0031481 | http://purl.obolibrary.org/obo/MONDO_0100328 |
Steel syndrome | http://purl.obolibrary.org/obo/MONDO_0014061 | http://www.ebi.ac.uk/efo/EFO_0000508 |
facial dysmorphism-immunodeficiency-livedo-short stature syndrome | http://purl.obolibrary.org/obo/MONDO_0014058 | http://www.ebi.ac.uk/efo/EFO_0000508 |
phosphohydroxylysinuria | http://purl.obolibrary.org/obo/MONDO_0014008 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Li-Ghorbani-Weisz-Hubshman syndrome | http://purl.obolibrary.org/obo/MONDO_0033547 | http://www.ebi.ac.uk/efo/EFO_0000508 |
myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies | http://purl.obolibrary.org/obo/MONDO_0033548 | http://www.ebi.ac.uk/efo/EFO_0000508 |
autoinflammation, immune dysregulation, and eosinophilia | http://purl.obolibrary.org/obo/MONDO_0033558 | http://www.ebi.ac.uk/efo/EFO_0000508 |
intellectual developmental disorder with seizures and language delay | http://purl.obolibrary.org/obo/MONDO_0033559 | http://www.ebi.ac.uk/efo/EFO_0000508 |
deeah syndrome | http://purl.obolibrary.org/obo/MONDO_0033561 | http://www.ebi.ac.uk/efo/EFO_0000508 |
mitochondrial complex 1 deficiency, nuclear type 35 | http://purl.obolibrary.org/obo/MONDO_0033560 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Suleiman-El-Hattab syndrome | http://purl.obolibrary.org/obo/MONDO_0033532 | http://www.ebi.ac.uk/efo/EFO_0000508 |
trichomegaly | http://purl.obolibrary.org/obo/MONDO_0008593 | http://www.ebi.ac.uk/efo/EFO_0000508 |
cone-rod synaptic disorder syndrome, congenital nonprogressive | http://purl.obolibrary.org/obo/MONDO_0033543 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Tolchin-Le Caignec syndrome | http://purl.obolibrary.org/obo/MONDO_0033544 | http://www.ebi.ac.uk/efo/EFO_0000508 |
neurodegeneration, infantile-onset, biotin-responsive | http://purl.obolibrary.org/obo/MONDO_0033546 | http://www.ebi.ac.uk/efo/EFO_0000508 |
tibia, hypoplasia or aplasia of, with polydactyly | http://purl.obolibrary.org/obo/MONDO_0008572 | http://www.ebi.ac.uk/efo/EFO_0000508 |
zinc, elevated plasma | http://purl.obolibrary.org/obo/MONDO_0008691 | http://www.ebi.ac.uk/efo/EFO_0000508 |
volvulus of midgut | http://purl.obolibrary.org/obo/MONDO_0008666 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Vissers-Bodmer syndrome | http://purl.obolibrary.org/obo/MONDO_0033618 | http://www.ebi.ac.uk/efo/EFO_0000508 |
myopathy, epilepsy, and progressive cerebral atrophy | http://purl.obolibrary.org/obo/MONDO_0033619 | http://www.ebi.ac.uk/efo/EFO_0000508 |
fibromuscular dysplasia | http://www.ebi.ac.uk/efo/EFO_1000938 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Genetic infertility | http://www.orpha.net/ORDO/Orphanet_275742 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Rare genetic female infertility | http://www.orpha.net/ORDO/Orphanet_400008 | http://www.orpha.net/ORDO/Orphanet_275742 |
Female infertility due to an implantation defect of genetic origin | http://www.orpha.net/ORDO/Orphanet_400025 | http://www.orpha.net/ORDO/Orphanet_400008 |
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin | http://www.orpha.net/ORDO/Orphanet_400011 | http://www.orpha.net/ORDO/Orphanet_400008 |
Rare female infertility due to adrenal disorder of genetic origin | http://www.orpha.net/ORDO/Orphanet_400018 | http://www.orpha.net/ORDO/Orphanet_400011 |
Rare female infertility due to a congenital hypogonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_399839 | http://www.orpha.net/ORDO/Orphanet_400011 |
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism | http://www.orpha.net/ORDO/Orphanet_399846 | http://www.orpha.net/ORDO/Orphanet_399839 |
Estrogen resistance syndrome | http://www.ebi.ac.uk/efo/EFO_0009042 | http://www.orpha.net/ORDO/Orphanet_400011 |
Female infertility due to gonadal dysgenesis | http://www.orpha.net/ORDO/Orphanet_399877 | http://www.orpha.net/ORDO/Orphanet_400008 |
Female infertility due to fertilization defect | http://www.orpha.net/ORDO/Orphanet_404469 | http://www.orpha.net/ORDO/Orphanet_400008 |
Female infertility due to zona pellucida defect | http://www.orpha.net/ORDO/Orphanet_404466 | http://www.orpha.net/ORDO/Orphanet_404469 |
Rare genetic male infertility | http://www.orpha.net/ORDO/Orphanet_399980 | http://www.orpha.net/ORDO/Orphanet_275742 |
Male infertility due to gonadal dysgenesis or sperm disorder | http://www.orpha.net/ORDO/Orphanet_399764 | http://www.orpha.net/ORDO/Orphanet_399980 |
Male infertility due to sperm disorder | http://www.orpha.net/ORDO/Orphanet_399771 | http://www.orpha.net/ORDO/Orphanet_399764 |
Male infertility due to sperm motility disorder | http://www.orpha.net/ORDO/Orphanet_399813 | http://www.orpha.net/ORDO/Orphanet_399771 |
Non-syndromic male infertility due to sperm motility disorder | http://www.orpha.net/ORDO/Orphanet_276234 | http://www.orpha.net/ORDO/Orphanet_399813 |
Male infertility with spermatogenesis disorder | http://www.orpha.net/ORDO/Orphanet_399775 | http://www.orpha.net/ORDO/Orphanet_399771 |
Male infertility with spermatogenesis disorder due to single gene mutation | http://www.orpha.net/ORDO/Orphanet_399786 | http://www.orpha.net/ORDO/Orphanet_399775 |
Male infertility with azoospermia or oligozoospermia due to single gene mutation | http://www.orpha.net/ORDO/Orphanet_399805 | http://www.orpha.net/ORDO/Orphanet_399786 |
Male infertility with teratozoospermia due to single gene mutation | http://www.orpha.net/ORDO/Orphanet_399808 | http://www.orpha.net/ORDO/Orphanet_399786 |
Male infertility due to large-headed multiflagellar polyploid spermatozoa | http://www.orpha.net/ORDO/Orphanet_137893 | http://www.orpha.net/ORDO/Orphanet_399808 |
Male infertility due to globozoospermia | http://www.orpha.net/ORDO/Orphanet_171709 | http://www.orpha.net/ORDO/Orphanet_399808 |
Male infertility due to gonadal dysgenesis | http://www.orpha.net/ORDO/Orphanet_98313 | http://www.orpha.net/ORDO/Orphanet_399764 |
Male infertility due to obstructive azoospermia of genetic origin | http://www.orpha.net/ORDO/Orphanet_399998 | http://www.orpha.net/ORDO/Orphanet_399980 |
Rare genetic disorder with obstructive azoospermia | http://www.orpha.net/ORDO/Orphanet_400003 | http://www.orpha.net/ORDO/Orphanet_399998 |
Persistent Müllerian duct syndrome | http://www.orpha.net/ORDO/Orphanet_2856 | http://www.orpha.net/ORDO/Orphanet_400003 |
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin | http://www.orpha.net/ORDO/Orphanet_399983 | http://www.orpha.net/ORDO/Orphanet_399980 |
Rare male infertility due to testicular endocrine disorder | http://www.orpha.net/ORDO/Orphanet_399685 | http://www.orpha.net/ORDO/Orphanet_399983 |
Rare male infertility due to adrenal disorder of genetic origin | http://www.orpha.net/ORDO/Orphanet_399994 | http://www.orpha.net/ORDO/Orphanet_399983 |
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | http://purl.obolibrary.org/obo/MONDO_0031439 | http://www.ebi.ac.uk/efo/EFO_0000508 |
cervical spondylosis | http://www.ebi.ac.uk/efo/EFO_0009610 | http://www.ebi.ac.uk/efo/EFO_0000508 |
epilepsy, hearing loss, and intellectual disability syndrome | http://www.ebi.ac.uk/efo/EFO_0009647 | http://www.ebi.ac.uk/efo/EFO_0000508 |
cardiac valvular defect, developmental | http://purl.obolibrary.org/obo/MONDO_0008913 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Developmental delay with variable intellectual impairment and behavioural abnormalities | http://www.ebi.ac.uk/efo/EFO_0010644 | http://www.ebi.ac.uk/efo/EFO_0000508 |
hyperproinsulinemia | http://www.ebi.ac.uk/efo/EFO_0009650 | http://www.ebi.ac.uk/efo/EFO_0000508 |
CHAND syndrome | http://purl.obolibrary.org/obo/MONDO_0008959 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Rare genetic gastroenterological disease | http://www.orpha.net/ORDO/Orphanet_165652 | http://www.ebi.ac.uk/efo/EFO_0000508 |
osteonecrosis of genetic origin | http://purl.obolibrary.org/obo/MONDO_0018383 | http://www.ebi.ac.uk/efo/EFO_0000508 |
osteochondritis dissecans | http://purl.obolibrary.org/obo/MONDO_0017178 | http://purl.obolibrary.org/obo/MONDO_0018383 |
avascular necrosis of genetic origin | http://purl.obolibrary.org/obo/MONDO_0018384 | http://purl.obolibrary.org/obo/MONDO_0018383 |
familial avascular necrosis of femoral head | http://purl.obolibrary.org/obo/MONDO_0012126 | http://purl.obolibrary.org/obo/MONDO_0018384 |
osteochondrosis of genetic origin | http://purl.obolibrary.org/obo/MONDO_0018385 | http://purl.obolibrary.org/obo/MONDO_0018383 |
Thiemann disease, familial form | http://purl.obolibrary.org/obo/MONDO_0008142 | http://purl.obolibrary.org/obo/MONDO_0018385 |
Scheuermann disease | http://purl.obolibrary.org/obo/MONDO_0008410 | http://purl.obolibrary.org/obo/MONDO_0018385 |
atrioventricular dissociation | http://purl.obolibrary.org/obo/MONDO_0008848 | http://www.ebi.ac.uk/efo/EFO_0000508 |
atrioventricular block | http://purl.obolibrary.org/obo/MONDO_0000465 | http://purl.obolibrary.org/obo/MONDO_0008848 |
congenital heart block | http://purl.obolibrary.org/obo/MONDO_0009326 | http://purl.obolibrary.org/obo/MONDO_0000465 |
hereditary arterial and articular multiple calcification syndrome | http://purl.obolibrary.org/obo/MONDO_0008895 | http://www.ebi.ac.uk/efo/EFO_0000508 |
combined oxidative phosphorylation deficiency 50 | http://purl.obolibrary.org/obo/MONDO_0033570 | http://www.ebi.ac.uk/efo/EFO_0000508 |
intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | http://purl.obolibrary.org/obo/MONDO_0033572 | http://www.ebi.ac.uk/efo/EFO_0000508 |
combined oxidative phosphorylation deficiency 49 | http://purl.obolibrary.org/obo/MONDO_0033569 | http://www.ebi.ac.uk/efo/EFO_0000508 |
Upington disease | http://purl.obolibrary.org/obo/MONDO_0008624 | http://www.ebi.ac.uk/efo/EFO_0000508 |
urinary bladder, atony of | http://purl.obolibrary.org/obo/MONDO_0008630 | http://www.ebi.ac.uk/efo/EFO_0000508 |
spinal muscular atrophy, infantile, James type | http://purl.obolibrary.org/obo/MONDO_0033621 | http://www.ebi.ac.uk/efo/EFO_0000508 |
cardiovascular disease | http://www.ebi.ac.uk/efo/EFO_0000319 | http://www.ebi.ac.uk/efo/EFO_0000408 |
vascular disease | http://www.ebi.ac.uk/efo/EFO_0004264 | http://www.ebi.ac.uk/efo/EFO_0000319 |
vasculitis | http://www.ebi.ac.uk/efo/EFO_0006803 | http://www.ebi.ac.uk/efo/EFO_0004264 |
Phlebitis | http://www.ebi.ac.uk/efo/EFO_1001395 | http://www.ebi.ac.uk/efo/EFO_0006803 |
predominantly small-vessel vasculitis | http://purl.obolibrary.org/obo/MONDO_0015490 | http://www.ebi.ac.uk/efo/EFO_0006803 |
Anti-neutrophil cytoplasmic antibody-associated vasculitis | http://purl.obolibrary.org/obo/MONDO_0015492 | http://purl.obolibrary.org/obo/MONDO_0015490 |
microscopic polyangiitis | http://www.ebi.ac.uk/efo/EFO_1000784 | http://purl.obolibrary.org/obo/MONDO_0015492 |
predominantly large-vessel vasculitis | http://purl.obolibrary.org/obo/MONDO_0015488 | http://www.ebi.ac.uk/efo/EFO_0006803 |
predominantly medium-vessel vasculitis | http://purl.obolibrary.org/obo/MONDO_0015489 | http://www.ebi.ac.uk/efo/EFO_0006803 |
thromboangiitis obliterans | http://www.ebi.ac.uk/efo/EFO_1001211 | http://purl.obolibrary.org/obo/MONDO_0015489 |
Arteritis | http://www.ebi.ac.uk/efo/EFO_0009011 | http://www.ebi.ac.uk/efo/EFO_0006803 |
granulomatous angiitis | http://purl.obolibrary.org/obo/MONDO_0002341 | http://www.ebi.ac.uk/efo/EFO_0009011 |
Endarteritis | http://www.ebi.ac.uk/efo/EFO_0009084 | http://www.ebi.ac.uk/efo/EFO_0009011 |
Polyarteritis Nodosa | http://www.ebi.ac.uk/efo/EFO_0009012 | http://www.ebi.ac.uk/efo/EFO_0009011 |
polyarteritis nodosa, childhoood-onset | http://www.ebi.ac.uk/efo/EFO_0009295 | http://www.ebi.ac.uk/efo/EFO_0009012 |
secondary vasculitis | http://purl.obolibrary.org/obo/MONDO_0018640 | http://www.ebi.ac.uk/efo/EFO_0006803 |
postinfectious vasculitis | http://purl.obolibrary.org/obo/MONDO_0018837 | http://purl.obolibrary.org/obo/MONDO_0018640 |
aortitis | http://www.ebi.ac.uk/efo/EFO_1000816 | http://www.ebi.ac.uk/efo/EFO_0006803 |
venous thromboembolism | http://www.ebi.ac.uk/efo/EFO_0004286 | http://www.ebi.ac.uk/efo/EFO_0004264 |
aneurysm | http://www.ebi.ac.uk/efo/EFO_0009659 | http://www.ebi.ac.uk/efo/EFO_0004264 |
vascular ectasia | http://purl.obolibrary.org/obo/MONDO_0021658 | http://www.ebi.ac.uk/efo/EFO_0004264 |
telangiectasis | http://purl.obolibrary.org/obo/MONDO_0001576 | http://purl.obolibrary.org/obo/MONDO_0021658 |
macrovascular complications of diabetes | http://www.ebi.ac.uk/efo/EFO_0010977 | http://www.ebi.ac.uk/efo/EFO_0004264 |
vein disorder | http://purl.obolibrary.org/obo/MONDO_0004634 | http://www.ebi.ac.uk/efo/EFO_0004264 |
amniotic fluid embolism | http://www.ebi.ac.uk/efo/EFO_1001263 | http://purl.obolibrary.org/obo/MONDO_0004634 |
venous insufficiency | http://purl.obolibrary.org/obo/MONDO_0000945 | http://purl.obolibrary.org/obo/MONDO_0004634 |
post-thrombotic syndrome | http://www.ebi.ac.uk/efo/EFO_0007452 | http://purl.obolibrary.org/obo/MONDO_0000945 |
varicose disease | http://purl.obolibrary.org/obo/MONDO_0008638 | http://purl.obolibrary.org/obo/MONDO_0004634 |
pelvic varices | http://purl.obolibrary.org/obo/MONDO_0004869 | http://purl.obolibrary.org/obo/MONDO_0008638 |
varicocele | http://purl.obolibrary.org/obo/MONDO_0001498 | http://purl.obolibrary.org/obo/MONDO_0004869 |
hemorrhoid | http://www.ebi.ac.uk/efo/EFO_0009552 | http://purl.obolibrary.org/obo/MONDO_0004869 |
chronic venous hypertension | http://www.ebi.ac.uk/efo/EFO_0010675 | http://purl.obolibrary.org/obo/MONDO_0004634 |
arterial occlusive disease | http://www.ebi.ac.uk/efo/EFO_0009085 | http://www.ebi.ac.uk/efo/EFO_0004264 |
arteriosclerosis | http://www.ebi.ac.uk/efo/EFO_0009086 | http://www.ebi.ac.uk/efo/EFO_0009085 |
atherosclerosis | http://www.ebi.ac.uk/efo/EFO_0003914 | http://www.ebi.ac.uk/efo/EFO_0009086 |
peripheral arterial disease | http://www.ebi.ac.uk/efo/EFO_0004265 | http://www.ebi.ac.uk/efo/EFO_0003914 |
coronary atherosclerosis | http://purl.obolibrary.org/obo/MONDO_0021661 | http://www.ebi.ac.uk/efo/EFO_0003914 |
arteriosclerosis obliterans | http://www.ebi.ac.uk/efo/EFO_1000820 | http://purl.obolibrary.org/obo/MONDO_0021661 |
arteriolosclerosis | http://www.ebi.ac.uk/efo/EFO_1000819 | http://purl.obolibrary.org/obo/MONDO_0021661 |
cerebral atherosclerosis | http://www.ebi.ac.uk/efo/EFO_1000860 | http://www.ebi.ac.uk/efo/EFO_0003914 |
cholesterol embolism | http://www.ebi.ac.uk/efo/EFO_0005801 | http://www.ebi.ac.uk/efo/EFO_0004264 |
peripheral vascular disease | http://www.ebi.ac.uk/efo/EFO_0003875 | http://www.ebi.ac.uk/efo/EFO_0004264 |
mesenteric vascular occlusion | http://www.ebi.ac.uk/efo/EFO_1001043 | http://www.ebi.ac.uk/efo/EFO_0003875 |
intermittent vascular claudication | http://www.ebi.ac.uk/efo/EFO_0003876 | http://www.ebi.ac.uk/efo/EFO_0003875 |
diabetic angiopathy | http://www.ebi.ac.uk/efo/EFO_1000896 | http://www.ebi.ac.uk/efo/EFO_0003875 |
diabetic foot | http://www.ebi.ac.uk/efo/EFO_1001459 | http://www.ebi.ac.uk/efo/EFO_1000896 |
epistaxis | http://www.ebi.ac.uk/efo/EFO_0003895 | http://www.ebi.ac.uk/efo/EFO_0004264 |
vascular disorder of penis | http://purl.obolibrary.org/obo/MONDO_0022293 | http://www.ebi.ac.uk/efo/EFO_0004264 |
thrombotic disease | http://purl.obolibrary.org/obo/MONDO_0000831 | http://www.ebi.ac.uk/efo/EFO_0004264 |
coronary thrombosis | http://www.ebi.ac.uk/efo/EFO_1000883 | http://purl.obolibrary.org/obo/MONDO_0000831 |
arterial disorder | http://purl.obolibrary.org/obo/MONDO_0000473 | http://www.ebi.ac.uk/efo/EFO_0004264 |
coronary artery disease | http://www.ebi.ac.uk/efo/EFO_0001645 | http://purl.obolibrary.org/obo/MONDO_0000473 |
Coronary Vasospasm | http://www.ebi.ac.uk/efo/EFO_0004225 | http://www.ebi.ac.uk/efo/EFO_0001645 |
Prinzmetal's angina | http://www.ebi.ac.uk/efo/EFO_1000013 | http://www.ebi.ac.uk/efo/EFO_0004225 |
Myocardial Ischemia | http://www.ebi.ac.uk/efo/EFO_1001375 | http://www.ebi.ac.uk/efo/EFO_0001645 |
postoperative ventricular dysfunction | http://www.ebi.ac.uk/efo/EFO_0004889 | http://www.ebi.ac.uk/efo/EFO_0001645 |
non-obstructive coronary artery disease | http://www.ebi.ac.uk/efo/EFO_1001483 | http://www.ebi.ac.uk/efo/EFO_0001645 |
spontaneous coronary artery dissection | http://www.ebi.ac.uk/efo/EFO_0010820 | http://www.ebi.ac.uk/efo/EFO_0001645 |
intermediate coronary syndrome | http://www.ebi.ac.uk/efo/EFO_1000985 | http://www.ebi.ac.uk/efo/EFO_0001645 |
coronary stenosis | http://www.ebi.ac.uk/efo/EFO_1000882 | http://www.ebi.ac.uk/efo/EFO_0001645 |
Coronary Restenosis | http://www.ebi.ac.uk/efo/EFO_0004224 | http://www.ebi.ac.uk/efo/EFO_1000882 |
coronary aneurysm | http://www.ebi.ac.uk/efo/EFO_1000881 | http://www.ebi.ac.uk/efo/EFO_0001645 |
arterial occlusion | http://purl.obolibrary.org/obo/MONDO_0020673 | http://purl.obolibrary.org/obo/MONDO_0000473 |
hypotension | http://www.ebi.ac.uk/efo/EFO_0005251 | http://purl.obolibrary.org/obo/MONDO_0000473 |
post-exercise hypotension | http://www.ebi.ac.uk/efo/EFO_1001828 | http://www.ebi.ac.uk/efo/EFO_0005251 |
neurally mediated hypotension | http://www.ebi.ac.uk/efo/EFO_0005254 | http://www.ebi.ac.uk/efo/EFO_0005251 |
postprandial hypotension | http://www.ebi.ac.uk/efo/EFO_0005253 | http://www.ebi.ac.uk/efo/EFO_0005251 |
orthostatic hypotension | http://www.ebi.ac.uk/efo/EFO_0005252 | http://www.ebi.ac.uk/efo/EFO_0005251 |
cervical artery dissection | http://www.ebi.ac.uk/efo/EFO_1000059 | http://purl.obolibrary.org/obo/MONDO_0000473 |
arteriosclerosis disorder | http://purl.obolibrary.org/obo/MONDO_0002277 | http://purl.obolibrary.org/obo/MONDO_0000473 |
pulmonary embolism | http://www.ebi.ac.uk/efo/EFO_0003827 | http://purl.obolibrary.org/obo/MONDO_0000473 |
Pulmonary Infarction | http://www.ebi.ac.uk/efo/EFO_1001408 | http://www.ebi.ac.uk/efo/EFO_0003827 |
aortic disease | http://www.ebi.ac.uk/efo/EFO_0005775 | http://purl.obolibrary.org/obo/MONDO_0000473 |
Aortic Rupture | http://www.ebi.ac.uk/efo/EFO_1001268 | http://www.ebi.ac.uk/efo/EFO_0005775 |
aortic aneurysm | http://www.ebi.ac.uk/efo/EFO_0001666 | http://www.ebi.ac.uk/efo/EFO_0005775 |
thoracic aortic aneurysm | http://www.ebi.ac.uk/efo/EFO_0004282 | http://www.ebi.ac.uk/efo/EFO_0001666 |
dilatation of the sinus of Valsalva | http://www.ebi.ac.uk/efo/EFO_0010163 | http://www.ebi.ac.uk/efo/EFO_0004282 |
Abdominal Aortic Aneurysm | http://www.ebi.ac.uk/efo/EFO_0004214 | http://www.ebi.ac.uk/efo/EFO_0001666 |
renal artery disease | http://purl.obolibrary.org/obo/MONDO_0002286 | http://www.ebi.ac.uk/efo/EFO_0005775 |
renal artery obstruction | http://www.ebi.ac.uk/efo/EFO_1001150 | http://purl.obolibrary.org/obo/MONDO_0002286 |
nephrosclerosis | http://www.ebi.ac.uk/efo/EFO_1000041 | http://purl.obolibrary.org/obo/MONDO_0002286 |
aortic valve disease | http://www.ebi.ac.uk/efo/EFO_0009531 | http://www.ebi.ac.uk/efo/EFO_0005775 |
aortic valve calcification | http://www.ebi.ac.uk/efo/EFO_0005239 | http://www.ebi.ac.uk/efo/EFO_0009531 |
tricuspid valve stenosis | http://www.ebi.ac.uk/efo/EFO_0007525 | http://www.ebi.ac.uk/efo/EFO_0009531 |
aortic stenosis | http://www.ebi.ac.uk/efo/EFO_0000266 | http://www.ebi.ac.uk/efo/EFO_0009531 |
subvalvular aortic stenosis | http://www.ebi.ac.uk/efo/EFO_1001199 | http://www.ebi.ac.uk/efo/EFO_0000266 |
discrete subaortic stenosis | http://www.ebi.ac.uk/efo/EFO_1000901 | http://www.ebi.ac.uk/efo/EFO_1001199 |
aortic valve insufficiency | http://www.ebi.ac.uk/efo/EFO_0007148 | http://www.ebi.ac.uk/efo/EFO_0009531 |
aortic valve prolapse | http://www.ebi.ac.uk/efo/EFO_1000815 | http://www.ebi.ac.uk/efo/EFO_0009531 |
hypertension | http://www.ebi.ac.uk/efo/EFO_0000537 | http://purl.obolibrary.org/obo/MONDO_0000473 |
malignant hypertension | http://www.ebi.ac.uk/efo/EFO_1001031 | http://www.ebi.ac.uk/efo/EFO_0000537 |
malignant secondary hypertension | http://purl.obolibrary.org/obo/MONDO_0001785 | http://www.ebi.ac.uk/efo/EFO_1001031 |
essential hypertension | http://purl.obolibrary.org/obo/MONDO_0001134 | http://www.ebi.ac.uk/efo/EFO_0000537 |
early onset hypertension | http://www.ebi.ac.uk/efo/EFO_0004772 | http://www.ebi.ac.uk/efo/EFO_0000537 |
pulmonary hypertension | http://purl.obolibrary.org/obo/MONDO_0005149 | http://www.ebi.ac.uk/efo/EFO_0000537 |
secondary hypertension | http://www.ebi.ac.uk/efo/EFO_1002034 | http://www.ebi.ac.uk/efo/EFO_0000537 |
renal hypertension | http://www.ebi.ac.uk/efo/EFO_1002039 | http://www.ebi.ac.uk/efo/EFO_1002034 |
renovascular hypertension | http://www.ebi.ac.uk/efo/EFO_1001153 | http://www.ebi.ac.uk/efo/EFO_1002039 |
treatment-resistant hypertension | http://www.ebi.ac.uk/efo/EFO_1002006 | http://www.ebi.ac.uk/efo/EFO_0000537 |
hypertension, pregnancy-induced | http://purl.obolibrary.org/obo/MONDO_0024664 | http://www.ebi.ac.uk/efo/EFO_0000537 |
toxemia of pregnancy | http://purl.obolibrary.org/obo/MONDO_0045048 | http://purl.obolibrary.org/obo/MONDO_0024664 |
chemotherapy-induced hypertension | http://www.ebi.ac.uk/efo/EFO_0005942 | http://www.ebi.ac.uk/efo/EFO_0000537 |
arterial embolism | http://www.ebi.ac.uk/efo/EFO_0010671 | http://purl.obolibrary.org/obo/MONDO_0000473 |
disorder of central nervous system or retinal vasculature | http://purl.obolibrary.org/obo/MONDO_0020676 | http://www.ebi.ac.uk/efo/EFO_0004264 |
neurovascular malformation | http://purl.obolibrary.org/obo/MONDO_0015145 | http://purl.obolibrary.org/obo/MONDO_0020676 |
Moyomoya angiopathy | http://purl.obolibrary.org/obo/MONDO_0018791 | http://purl.obolibrary.org/obo/MONDO_0020676 |
vascular insufficiency disorder | http://purl.obolibrary.org/obo/MONDO_0020674 | http://www.ebi.ac.uk/efo/EFO_0004264 |
vascular occlusion disorder | http://purl.obolibrary.org/obo/MONDO_0020672 | http://www.ebi.ac.uk/efo/EFO_0004264 |
ischemic disease | http://purl.obolibrary.org/obo/MONDO_0005053 | http://www.ebi.ac.uk/efo/EFO_0004264 |
skin vascular disease | http://purl.obolibrary.org/obo/MONDO_0019293 | http://www.ebi.ac.uk/efo/EFO_0004264 |
malignant atrophic papulosis | http://purl.obolibrary.org/obo/MONDO_0011208 | http://purl.obolibrary.org/obo/MONDO_0019293 |
angioedema | http://www.ebi.ac.uk/efo/EFO_0005532 | http://purl.obolibrary.org/obo/MONDO_0019293 |
acquired angioedema | http://purl.obolibrary.org/obo/MONDO_0019624 | http://www.ebi.ac.uk/efo/EFO_0005532 |
Superior Vena Cava Syndrome | http://www.ebi.ac.uk/efo/EFO_1001855 | http://www.ebi.ac.uk/efo/EFO_0004264 |
cardiac embolism | http://www.ebi.ac.uk/efo/EFO_1001493 | http://www.ebi.ac.uk/efo/EFO_0004264 |
small artery occlusion | http://www.ebi.ac.uk/efo/EFO_1001495 | http://www.ebi.ac.uk/efo/EFO_0004264 |
endothelial dysfunction | http://www.ebi.ac.uk/efo/EFO_1001461 | http://www.ebi.ac.uk/efo/EFO_0004264 |
Systemic capillary leak syndrome | http://www.ebi.ac.uk/efo/EFO_1001477 | http://www.ebi.ac.uk/efo/EFO_0004264 |
vascular anomaly | http://purl.obolibrary.org/obo/MONDO_0019063 | http://www.ebi.ac.uk/efo/EFO_0004264 |
simple vascular malformation | http://purl.obolibrary.org/obo/MONDO_0016230 | http://purl.obolibrary.org/obo/MONDO_0019063 |
capillary malformation | http://purl.obolibrary.org/obo/MONDO_0016231 | http://purl.obolibrary.org/obo/MONDO_0016230 |
lethal arteriopathy syndrome due to fibulin-4 deficiency | http://purl.obolibrary.org/obo/MONDO_0017818 | http://www.ebi.ac.uk/efo/EFO_0004264 |
capillary disorder | http://purl.obolibrary.org/obo/MONDO_0001574 | http://www.ebi.ac.uk/efo/EFO_0004264 |
Aneurysm, False | http://www.ebi.ac.uk/efo/EFO_1001265 | http://www.ebi.ac.uk/efo/EFO_0004264 |
Arterio-Arterial Fistula | http://www.ebi.ac.uk/efo/EFO_1001270 | http://www.ebi.ac.uk/efo/EFO_0004264 |
Coronary-Subclavian Steal Syndrome | http://www.ebi.ac.uk/efo/EFO_1001297 | http://www.ebi.ac.uk/efo/EFO_0004264 |
Embolism, Paradoxical | http://www.ebi.ac.uk/efo/EFO_1001308 | http://www.ebi.ac.uk/efo/EFO_0004264 |
heart disease | http://www.ebi.ac.uk/efo/EFO_0003777 | http://www.ebi.ac.uk/efo/EFO_0000319 |
cardiac arrhythmia | http://www.ebi.ac.uk/efo/EFO_0004269 | http://www.ebi.ac.uk/efo/EFO_0003777 |
ventricular fibrillation | http://www.ebi.ac.uk/efo/EFO_0004287 | http://www.ebi.ac.uk/efo/EFO_0004269 |
paroxysmal familial ventricular fibrillation | http://purl.obolibrary.org/obo/MONDO_0100234 | http://www.ebi.ac.uk/efo/EFO_0004287 |
Supraventricular tachycardia | http://purl.obolibrary.org/obo/HP_0004755 | http://www.ebi.ac.uk/efo/EFO_0004269 |
Paroxysmal supraventricular tachycardia | http://purl.obolibrary.org/obo/HP_0004763 | http://purl.obolibrary.org/obo/HP_0004755 |
Tachycardia, Reciprocating | http://www.ebi.ac.uk/efo/EFO_1001432 | http://www.ebi.ac.uk/efo/EFO_0004269 |
cardiac conduction defect | http://www.ebi.ac.uk/efo/EFO_1001497 | http://www.ebi.ac.uk/efo/EFO_0004269 |
Commotio Cordis | http://www.ebi.ac.uk/efo/EFO_1001781 | http://www.ebi.ac.uk/efo/EFO_0004269 |
sinoatrial nodal reentry tachycardia | http://www.ebi.ac.uk/efo/EFO_1001843 | http://www.ebi.ac.uk/efo/EFO_0004269 |
ventricular tachycardia | http://www.ebi.ac.uk/efo/EFO_0005306 | http://www.ebi.ac.uk/efo/EFO_0004269 |
polymorphic ventricular tachycardia | http://purl.obolibrary.org/obo/MONDO_0020575 | http://www.ebi.ac.uk/efo/EFO_0005306 |
torsades de pointes | http://www.ebi.ac.uk/efo/EFO_0005307 | http://www.ebi.ac.uk/efo/EFO_0005306 |
atrial tachycardia | http://www.ebi.ac.uk/efo/EFO_0005308 | http://www.ebi.ac.uk/efo/EFO_0004269 |
atrial flutter | http://www.ebi.ac.uk/efo/EFO_0003911 | http://www.ebi.ac.uk/efo/EFO_0005308 |
atrial fibrillation | http://www.ebi.ac.uk/efo/EFO_0000275 | http://www.ebi.ac.uk/efo/EFO_0004269 |
paroxysmal tachycardia | http://www.ebi.ac.uk/efo/EFO_0009493 | http://www.ebi.ac.uk/efo/EFO_0004269 |
cardiac arrest | http://www.ebi.ac.uk/efo/EFO_0009492 | http://www.ebi.ac.uk/efo/EFO_0004269 |
sudden cardiac arrest | http://www.ebi.ac.uk/efo/EFO_0004278 | http://www.ebi.ac.uk/efo/EFO_0009492 |
premature cardiac contractions | http://www.ebi.ac.uk/efo/EFO_0009275 | http://www.ebi.ac.uk/efo/EFO_0004269 |
supraventricular ectopy | http://www.ebi.ac.uk/efo/EFO_0009277 | http://www.ebi.ac.uk/efo/EFO_0009275 |
ventricular ectopy | http://www.ebi.ac.uk/efo/EFO_0009276 | http://www.ebi.ac.uk/efo/EFO_0009275 |
rheumatic heart disease | http://www.ebi.ac.uk/efo/EFO_1001161 | http://www.ebi.ac.uk/efo/EFO_0003777 |
rheumatic myocarditis | http://purl.obolibrary.org/obo/MONDO_0004582 | http://www.ebi.ac.uk/efo/EFO_1001161 |
cardiac ventricle disorder | http://purl.obolibrary.org/obo/MONDO_0045001 | http://www.ebi.ac.uk/efo/EFO_0003777 |
hypertensive heart disease | http://purl.obolibrary.org/obo/MONDO_0001302 | http://www.ebi.ac.uk/efo/EFO_0003777 |
heart aneurysm | http://www.ebi.ac.uk/efo/EFO_1000959 | http://www.ebi.ac.uk/efo/EFO_0003777 |
heart valve disease | http://www.ebi.ac.uk/efo/EFO_0009551 | http://www.ebi.ac.uk/efo/EFO_0003777 |
mitral valve disease | http://www.ebi.ac.uk/efo/EFO_0009557 | http://www.ebi.ac.uk/efo/EFO_0009551 |
Mitral valve prolapse | http://purl.obolibrary.org/obo/HP_0001634 | http://www.ebi.ac.uk/efo/EFO_0009557 |
mitral valve stenosis | http://www.ebi.ac.uk/efo/EFO_0007372 | http://www.ebi.ac.uk/efo/EFO_0009557 |
pulmonary valve disease | http://www.ebi.ac.uk/efo/EFO_0009564 | http://www.ebi.ac.uk/efo/EFO_0009551 |
pulmonary valve stenosis | http://www.ebi.ac.uk/efo/EFO_1001138 | http://www.ebi.ac.uk/efo/EFO_0009564 |
pulmonary subvalvular stenosis | http://www.ebi.ac.uk/efo/EFO_1001137 | http://www.ebi.ac.uk/efo/EFO_1001138 |
tricuspid valve disease | http://www.ebi.ac.uk/efo/EFO_0009568 | http://www.ebi.ac.uk/efo/EFO_0009551 |
post-operative atrial fibrillation | http://www.ebi.ac.uk/efo/EFO_0009952 | http://www.ebi.ac.uk/efo/EFO_0003777 |
post-operative myocardial infarction | http://www.ebi.ac.uk/efo/EFO_0009953 | http://www.ebi.ac.uk/efo/EFO_0003777 |
cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0000318 | http://www.ebi.ac.uk/efo/EFO_0003777 |
non-compaction cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0004686 | http://www.ebi.ac.uk/efo/EFO_0000318 |
ischemic cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0001425 | http://www.ebi.ac.uk/efo/EFO_0000318 |
diabetic cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_1001458 | http://www.ebi.ac.uk/efo/EFO_0000318 |
Takotsubo cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_1002000 | http://www.ebi.ac.uk/efo/EFO_0000318 |
intrinsic cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0000591 | http://www.ebi.ac.uk/efo/EFO_0000318 |
dilated cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0000407 | http://purl.obolibrary.org/obo/MONDO_0000591 |
idiopathic dilated cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0009094 | http://www.ebi.ac.uk/efo/EFO_0000407 |
autosomal dominant dilated cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0009142 | http://www.ebi.ac.uk/efo/EFO_0000407 |
non-familial dilated cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0016338 | http://www.ebi.ac.uk/efo/EFO_0000407 |
peripartum cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0002628 | http://purl.obolibrary.org/obo/MONDO_0016338 |
viral cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0002629 | http://www.ebi.ac.uk/efo/EFO_0000407 |
autosomal recessive dilated cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0010953 | http://www.ebi.ac.uk/efo/EFO_0000407 |
hypertrophic cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0000538 | http://purl.obolibrary.org/obo/MONDO_0000591 |
fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency | http://purl.obolibrary.org/obo/MONDO_0017336 | http://www.ebi.ac.uk/efo/EFO_0000538 |
non-familial hypertrophic cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0016330 | http://www.ebi.ac.uk/efo/EFO_0000538 |
arrhythmogenic right ventricular cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0016587 | http://purl.obolibrary.org/obo/MONDO_0000591 |
restrictive cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0002630 | http://purl.obolibrary.org/obo/MONDO_0000591 |
Non-familial restrictive cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_1001473 | http://www.ebi.ac.uk/efo/EFO_0002630 |
myocarditis | http://www.ebi.ac.uk/efo/EFO_0009609 | http://purl.obolibrary.org/obo/MONDO_0000591 |
extrinsic cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0002824 | http://www.ebi.ac.uk/efo/EFO_0000318 |
alcoholic cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_1000801 | http://purl.obolibrary.org/obo/MONDO_0002824 |
idiopathic cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0000767 | http://www.ebi.ac.uk/efo/EFO_0000318 |
nonischemic cardiomyopathy | http://www.ebi.ac.uk/efo/EFO_0009881 | http://www.ebi.ac.uk/efo/EFO_0000318 |
heart failure | http://www.ebi.ac.uk/efo/EFO_0003144 | http://www.ebi.ac.uk/efo/EFO_0003777 |
symptomatic heart failure | http://www.ebi.ac.uk/efo/EFO_0003146 | http://www.ebi.ac.uk/efo/EFO_0003144 |
moderate heart failure | http://www.ebi.ac.uk/efo/EFO_0003148 | http://www.ebi.ac.uk/efo/EFO_0003146 |
advanced heart failure | http://www.ebi.ac.uk/efo/EFO_0003149 | http://www.ebi.ac.uk/efo/EFO_0003146 |
mild heart failure | http://www.ebi.ac.uk/efo/EFO_0003147 | http://www.ebi.ac.uk/efo/EFO_0003146 |
high output heart failure | http://www.ebi.ac.uk/efo/EFO_0003145 | http://www.ebi.ac.uk/efo/EFO_0003144 |
congestive heart failure | http://www.ebi.ac.uk/efo/EFO_0000373 | http://www.ebi.ac.uk/efo/EFO_0003144 |
systolic heart failure | http://www.ebi.ac.uk/efo/EFO_1001207 | http://www.ebi.ac.uk/efo/EFO_0000373 |
cor pulmonale | http://purl.obolibrary.org/obo/MONDO_0004596 | http://www.ebi.ac.uk/efo/EFO_0000373 |
chronic pulmonary heart disease | http://purl.obolibrary.org/obo/MONDO_0001493 | http://purl.obolibrary.org/obo/MONDO_0004596 |
primary pulmonary hypertension | http://purl.obolibrary.org/obo/MONDO_0001999 | http://purl.obolibrary.org/obo/MONDO_0001493 |
diastolic heart failure | http://www.ebi.ac.uk/efo/EFO_1000899 | http://www.ebi.ac.uk/efo/EFO_0000373 |
heart conduction disease | http://purl.obolibrary.org/obo/MONDO_0000992 | http://www.ebi.ac.uk/efo/EFO_0003777 |
sinoatrial node disorder | http://purl.obolibrary.org/obo/MONDO_0000469 | http://purl.obolibrary.org/obo/MONDO_0000992 |
inflammation of heart layer | http://purl.obolibrary.org/obo/MONDO_0024636 | http://www.ebi.ac.uk/efo/EFO_0003777 |
endocarditis | http://www.ebi.ac.uk/efo/EFO_0000465 | http://purl.obolibrary.org/obo/MONDO_0024636 |
myocardial disorder | http://purl.obolibrary.org/obo/MONDO_0024643 | http://www.ebi.ac.uk/efo/EFO_0003777 |
conduction system disorder | http://www.ebi.ac.uk/efo/EFO_0005137 | http://purl.obolibrary.org/obo/MONDO_0024643 |
bundle branch block | http://www.ebi.ac.uk/efo/EFO_0004138 | http://www.ebi.ac.uk/efo/EFO_0005137 |
atrioventricular node disease | http://www.ebi.ac.uk/efo/EFO_0005305 | http://www.ebi.ac.uk/efo/EFO_0005137 |
acquired long QT syndrome | http://www.ebi.ac.uk/efo/EFO_0005138 | http://www.ebi.ac.uk/efo/EFO_0005137 |
myocardial infarction | http://www.ebi.ac.uk/efo/EFO_0000612 | http://purl.obolibrary.org/obo/MONDO_0024643 |
Subsequent ST elevation (STEMI) and non-ST elevation (NSTEMI) myocardial infarction | http://www.ebi.ac.uk/efo/EFO_0008584 | http://www.ebi.ac.uk/efo/EFO_0000612 |
Non-ST Elevation Myocardial Infarction | http://www.ebi.ac.uk/efo/EFO_0008586 | http://www.ebi.ac.uk/efo/EFO_0008584 |
ST Elevation Myocardial Infarction | http://www.ebi.ac.uk/efo/EFO_0008585 | http://www.ebi.ac.uk/efo/EFO_0008584 |
inferior myocardial infarction | http://www.ebi.ac.uk/efo/EFO_1000983 | http://www.ebi.ac.uk/efo/EFO_0000612 |
anterolateral myocardial infarction | http://www.ebi.ac.uk/efo/EFO_1000812 | http://www.ebi.ac.uk/efo/EFO_0000612 |
pericardium disorder | http://purl.obolibrary.org/obo/MONDO_0000474 | http://www.ebi.ac.uk/efo/EFO_0003777 |
pericardial effusion | http://purl.obolibrary.org/obo/MONDO_0001370 | http://purl.obolibrary.org/obo/MONDO_0000474 |
Cardiac Tamponade | http://www.ebi.ac.uk/efo/EFO_1001285 | http://purl.obolibrary.org/obo/MONDO_0001370 |
hemopericardium | http://www.ebi.ac.uk/efo/EFO_0007298 | http://purl.obolibrary.org/obo/MONDO_0001370 |
pericarditis | http://www.ebi.ac.uk/efo/EFO_0007427 | http://purl.obolibrary.org/obo/MONDO_0000474 |
Pneumopericardium | http://www.ebi.ac.uk/efo/EFO_1001400 | http://www.ebi.ac.uk/efo/EFO_0007427 |
constrictive pericarditis | http://www.ebi.ac.uk/efo/EFO_1000878 | http://www.ebi.ac.uk/efo/EFO_0007427 |
endocardium disorder | http://purl.obolibrary.org/obo/MONDO_0000470 | http://www.ebi.ac.uk/efo/EFO_0003777 |
endocardial fibroelastosis | http://www.ebi.ac.uk/efo/EFO_0007251 | http://purl.obolibrary.org/obo/MONDO_0000470 |
cardiac edema | http://www.ebi.ac.uk/efo/EFO_1001771 | http://www.ebi.ac.uk/efo/EFO_0003777 |
Ventricular Outflow Obstruction | http://www.ebi.ac.uk/efo/EFO_1001448 | http://www.ebi.ac.uk/efo/EFO_0003777 |
cardiac rhythm disease | http://purl.obolibrary.org/obo/MONDO_0007263 | http://www.ebi.ac.uk/efo/EFO_0003777 |
cardiac anomalies-heterotaxy syndrome | http://purl.obolibrary.org/obo/MONDO_0015296 | http://www.ebi.ac.uk/efo/EFO_0003777 |
infectious disease or post-infectious disorder | http://purl.obolibrary.org/obo/MONDO_0100336 | http://www.ebi.ac.uk/efo/EFO_0000408 |
viral disease or post-viral disorder | http://purl.obolibrary.org/obo/MONDO_0100321 | http://purl.obolibrary.org/obo/MONDO_0100336 |
SARS-CoV-2-related disease | http://purl.obolibrary.org/obo/MONDO_0100318 | http://purl.obolibrary.org/obo/MONDO_0100321 |
post-COVID-19 disorder | http://purl.obolibrary.org/obo/MONDO_0100320 | http://purl.obolibrary.org/obo/MONDO_0100318 |
post-viral disorder | http://purl.obolibrary.org/obo/MONDO_0021674 | http://purl.obolibrary.org/obo/MONDO_0100321 |
post-infectious disorder | http://purl.obolibrary.org/obo/MONDO_0021669 | http://purl.obolibrary.org/obo/MONDO_0100336 |
post-bacterial disorder | http://purl.obolibrary.org/obo/MONDO_0021673 | http://purl.obolibrary.org/obo/MONDO_0021669 |
occupational disorder | http://purl.obolibrary.org/obo/MONDO_0100366 | http://www.ebi.ac.uk/efo/EFO_0000408 |
psychiatric disorder | http://purl.obolibrary.org/obo/MONDO_0002025 | http://www.ebi.ac.uk/efo/EFO_0000408 |
impulse control disorder | http://purl.obolibrary.org/obo/MONDO_0001162 | http://purl.obolibrary.org/obo/MONDO_0002025 |
dissociative disorder | http://purl.obolibrary.org/obo/MONDO_0001160 | http://purl.obolibrary.org/obo/MONDO_0002025 |
sexual and gender identity disorders | http://purl.obolibrary.org/obo/MONDO_0000595 | http://purl.obolibrary.org/obo/MONDO_0002025 |
disorientation | http://www.ebi.ac.uk/efo/EFO_0020914 | http://purl.obolibrary.org/obo/MONDO_0002025 |
substance-related disorder | http://purl.obolibrary.org/obo/MONDO_0002494 | http://purl.obolibrary.org/obo/MONDO_0002025 |
substance dependence | http://purl.obolibrary.org/obo/MONDO_0004938 | http://purl.obolibrary.org/obo/MONDO_0002494 |
substance abuse | http://purl.obolibrary.org/obo/MONDO_0002491 | http://purl.obolibrary.org/obo/MONDO_0002494 |
alcohol abuse | http://purl.obolibrary.org/obo/MONDO_0002046 | http://purl.obolibrary.org/obo/MONDO_0002491 |
alcohol-related disorders | http://purl.obolibrary.org/obo/MONDO_0021698 | http://purl.obolibrary.org/obo/MONDO_0002494 |
alcohol-induced disorders | http://purl.obolibrary.org/obo/MONDO_0021699 | http://purl.obolibrary.org/obo/MONDO_0021698 |
opioid use disorder | http://www.ebi.ac.uk/efo/EFO_0010702 | http://purl.obolibrary.org/obo/MONDO_0002494 |
cocaine use disorder | http://www.ebi.ac.uk/efo/EFO_0010445 | http://purl.obolibrary.org/obo/MONDO_0002494 |
enuresis | http://purl.obolibrary.org/obo/MONDO_0024290 | http://purl.obolibrary.org/obo/MONDO_0002025 |
personality disorder | http://purl.obolibrary.org/obo/MONDO_0002028 | http://purl.obolibrary.org/obo/MONDO_0002025 |
schizotypal personality disorder | http://purl.obolibrary.org/obo/MONDO_0001087 | http://purl.obolibrary.org/obo/MONDO_0002028 |
paranoid personality disorder | http://purl.obolibrary.org/obo/MONDO_0001163 | http://purl.obolibrary.org/obo/MONDO_0002028 |
schizoid personality disorder | http://purl.obolibrary.org/obo/MONDO_0001161 | http://purl.obolibrary.org/obo/MONDO_0002028 |
dependent personality disorder | http://purl.obolibrary.org/obo/MONDO_0001157 | http://purl.obolibrary.org/obo/MONDO_0002028 |
inflammatory disease | http://www.ebi.ac.uk/efo/EFO_0009903 | http://www.ebi.ac.uk/efo/EFO_0000408 |
mastitis | http://www.ebi.ac.uk/efo/EFO_1001034 | http://www.ebi.ac.uk/efo/EFO_0009903 |
perinephritis | http://www.ebi.ac.uk/efo/EFO_1001099 | http://www.ebi.ac.uk/efo/EFO_0009903 |
Endometritis | http://www.ebi.ac.uk/efo/EFO_1001312 | http://www.ebi.ac.uk/efo/EFO_0009903 |
Pelvic Inflammatory Disease | http://www.ebi.ac.uk/efo/EFO_1001388 | http://www.ebi.ac.uk/efo/EFO_0009903 |
parametritis | http://www.ebi.ac.uk/efo/EFO_1001084 | http://www.ebi.ac.uk/efo/EFO_1001388 |
salpingitis | http://purl.obolibrary.org/obo/MONDO_0003619 | http://www.ebi.ac.uk/efo/EFO_1001388 |
posthitis | http://purl.obolibrary.org/obo/MONDO_0021164 | http://www.ebi.ac.uk/efo/EFO_0009903 |
balanoposthitis | http://purl.obolibrary.org/obo/MONDO_0001618 | http://purl.obolibrary.org/obo/MONDO_0021164 |
vulvitis | http://www.ebi.ac.uk/efo/EFO_1001239 | http://www.ebi.ac.uk/efo/EFO_0009903 |
vulvovaginitis | http://www.ebi.ac.uk/efo/EFO_1001240 | http://www.ebi.ac.uk/efo/EFO_1001239 |
endocervicitis | http://purl.obolibrary.org/obo/MONDO_0003632 | http://www.ebi.ac.uk/efo/EFO_0009903 |
spondylitis | http://purl.obolibrary.org/obo/MONDO_0003937 | http://www.ebi.ac.uk/efo/EFO_0009903 |
inflammatory spondylopathy | http://purl.obolibrary.org/obo/MONDO_0001434 | http://purl.obolibrary.org/obo/MONDO_0003937 |
nephritis | http://www.ebi.ac.uk/efo/EFO_1002050 | http://www.ebi.ac.uk/efo/EFO_0009903 |
pyelitis | http://www.ebi.ac.uk/efo/EFO_1001140 | http://www.ebi.ac.uk/efo/EFO_1002050 |
pyelocystitis | http://www.ebi.ac.uk/efo/EFO_1001835 | http://www.ebi.ac.uk/efo/EFO_1001140 |
interstitial nephritis | http://purl.obolibrary.org/obo/MONDO_0001085 | http://www.ebi.ac.uk/efo/EFO_1002050 |
glomerulonephritis | http://purl.obolibrary.org/obo/MONDO_0002462 | http://www.ebi.ac.uk/efo/EFO_1002050 |
membranous glomerulonephritis | http://www.ebi.ac.uk/efo/EFO_0004254 | http://purl.obolibrary.org/obo/MONDO_0002462 |
lipoid nephrosis | http://www.ebi.ac.uk/efo/EFO_1001020 | http://purl.obolibrary.org/obo/MONDO_0002462 |
rapidly progressive glomerulonephritis | http://purl.obolibrary.org/obo/MONDO_0017236 | http://purl.obolibrary.org/obo/MONDO_0002462 |
primary membranoproliferative glomerulonephritis | http://purl.obolibrary.org/obo/MONDO_0018904 | http://purl.obolibrary.org/obo/MONDO_0002462 |
non-immunoglobulin-mediated membranoproliferative glomerulonephritis | http://purl.obolibrary.org/obo/MONDO_0018013 | http://purl.obolibrary.org/obo/MONDO_0018904 |
dense deposit disease | http://purl.obolibrary.org/obo/MONDO_0019736 | http://purl.obolibrary.org/obo/MONDO_0018013 |
balanitis | http://www.ebi.ac.uk/efo/EFO_1000833 | http://www.ebi.ac.uk/efo/EFO_0009903 |
serositis | http://purl.obolibrary.org/obo/MONDO_0043786 | http://www.ebi.ac.uk/efo/EFO_0009903 |
villitis | http://www.ebi.ac.uk/efo/EFO_0003110 | http://www.ebi.ac.uk/efo/EFO_0009903 |
dermatitis | http://purl.obolibrary.org/obo/MONDO_0002406 | http://www.ebi.ac.uk/efo/EFO_0009903 |
intertrigo | http://purl.obolibrary.org/obo/MONDO_0021340 | http://purl.obolibrary.org/obo/MONDO_0002406 |
pustulosis palmaris et plantaris | http://purl.obolibrary.org/obo/MONDO_0015597 | http://purl.obolibrary.org/obo/MONDO_0002406 |
urticaria | http://www.ebi.ac.uk/efo/EFO_0005531 | http://purl.obolibrary.org/obo/MONDO_0002406 |
idiopathic urticaria | http://purl.obolibrary.org/obo/MONDO_0044211 | http://www.ebi.ac.uk/efo/EFO_0005531 |
cold urticaria | http://www.ebi.ac.uk/efo/EFO_1001881 | http://www.ebi.ac.uk/efo/EFO_0005531 |
acquired cold urticaria | http://www.ebi.ac.uk/efo/EFO_1001871 | http://www.ebi.ac.uk/efo/EFO_1001881 |
physical urticaria | http://www.ebi.ac.uk/efo/EFO_1000754 | http://www.ebi.ac.uk/efo/EFO_0005531 |
dermatographia | http://www.ebi.ac.uk/efo/EFO_1000685 | http://www.ebi.ac.uk/efo/EFO_1000754 |
cholinergic urticaria | http://www.ebi.ac.uk/efo/EFO_1000679 | http://www.ebi.ac.uk/efo/EFO_1000754 |
vibratory urticaria | http://www.ebi.ac.uk/efo/EFO_1000775 | http://www.ebi.ac.uk/efo/EFO_1000754 |
radiodermatitis | http://purl.obolibrary.org/obo/MONDO_0043771 | http://purl.obolibrary.org/obo/MONDO_0002406 |
exfoliative dermatitis | http://www.ebi.ac.uk/efo/EFO_0009456 | http://purl.obolibrary.org/obo/MONDO_0002406 |
folliculitis | http://www.ebi.ac.uk/efo/EFO_1000702 | http://purl.obolibrary.org/obo/MONDO_0002406 |
granulomatous dermatitis | http://www.ebi.ac.uk/efo/EFO_1000705 | http://purl.obolibrary.org/obo/MONDO_0002406 |
granuloma annulare | http://www.ebi.ac.uk/efo/EFO_1000704 | http://purl.obolibrary.org/obo/MONDO_0002406 |
seborrheic dermatitis | http://www.ebi.ac.uk/efo/EFO_1000764 | http://purl.obolibrary.org/obo/MONDO_0002406 |
pityriasis rosea | http://www.ebi.ac.uk/efo/EFO_1000756 | http://purl.obolibrary.org/obo/MONDO_0002406 |
neurotic excoriation | http://www.ebi.ac.uk/efo/EFO_1000741 | http://purl.obolibrary.org/obo/MONDO_0002406 |
neurodermatitis | http://www.ebi.ac.uk/efo/EFO_1000740 | http://purl.obolibrary.org/obo/MONDO_0002406 |
lichen planus | http://www.ebi.ac.uk/efo/EFO_1000726 | http://purl.obolibrary.org/obo/MONDO_0002406 |
oral lichen planus | http://www.ebi.ac.uk/efo/EFO_0008517 | http://www.ebi.ac.uk/efo/EFO_1000726 |
lichen planopilaris | http://www.ebi.ac.uk/efo/EFO_0009856 | http://www.ebi.ac.uk/efo/EFO_1000726 |
acanthosis nigricans | http://www.ebi.ac.uk/efo/EFO_1000660 | http://purl.obolibrary.org/obo/MONDO_0002406 |
acneiform dermatitis | http://www.ebi.ac.uk/efo/EFO_1000662 | http://purl.obolibrary.org/obo/MONDO_0002406 |
acrodermatitis | http://www.ebi.ac.uk/efo/EFO_1000664 | http://purl.obolibrary.org/obo/MONDO_0002406 |
acrodermatitis chronica atrophicans | http://www.ebi.ac.uk/efo/EFO_1000665 | http://www.ebi.ac.uk/efo/EFO_1000664 |
bursitis | http://purl.obolibrary.org/obo/MONDO_0002471 | http://www.ebi.ac.uk/efo/EFO_0009903 |
vaginitis | http://purl.obolibrary.org/obo/MONDO_0002234 | http://www.ebi.ac.uk/efo/EFO_0009903 |
postmenopausal atrophic vaginitis | http://purl.obolibrary.org/obo/MONDO_0001410 | http://purl.obolibrary.org/obo/MONDO_0002234 |
hidradenitis | http://purl.obolibrary.org/obo/MONDO_0002260 | http://www.ebi.ac.uk/efo/EFO_0009903 |
hidradenitis suppurativa | http://www.ebi.ac.uk/efo/EFO_1000710 | http://purl.obolibrary.org/obo/MONDO_0002260 |
cystitis | http://www.ebi.ac.uk/efo/EFO_1000025 | http://www.ebi.ac.uk/efo/EFO_0009903 |
chronic cystitis | http://www.ebi.ac.uk/efo/EFO_1000023 | http://www.ebi.ac.uk/efo/EFO_1000025 |
chronic interstitial cystitis | http://www.ebi.ac.uk/efo/EFO_1000869 | http://www.ebi.ac.uk/efo/EFO_1000023 |
obstetric disorder | http://purl.obolibrary.org/obo/MONDO_0700003 | http://www.ebi.ac.uk/efo/EFO_0000408 |
puerperal disorder | http://www.ebi.ac.uk/efo/EFO_0009683 | http://purl.obolibrary.org/obo/MONDO_0700003 |
postpartum hemorrhage | http://www.ebi.ac.uk/efo/EFO_0009579 | http://www.ebi.ac.uk/efo/EFO_0009683 |
pregnancy disorder | http://www.ebi.ac.uk/efo/EFO_0009682 | http://purl.obolibrary.org/obo/MONDO_0700003 |
pregnancy associated osteoporosis | http://purl.obolibrary.org/obo/MONDO_0100194 | http://www.ebi.ac.uk/efo/EFO_0009682 |
placenta disease | http://www.ebi.ac.uk/efo/EFO_0007441 | http://www.ebi.ac.uk/efo/EFO_0009682 |
fetomaternal transfusion | http://www.ebi.ac.uk/efo/EFO_1001794 | http://www.ebi.ac.uk/efo/EFO_0007441 |
Abruptio Placentae | http://www.ebi.ac.uk/efo/EFO_1001754 | http://www.ebi.ac.uk/efo/EFO_0007441 |
fetal growth restriction | http://www.ebi.ac.uk/efo/EFO_0000495 | http://www.ebi.ac.uk/efo/EFO_0007441 |
disease of extraembryonic membrane | http://www.ebi.ac.uk/efo/EFO_0009950 | http://www.ebi.ac.uk/efo/EFO_0007441 |
chorioamnionitis | http://www.ebi.ac.uk/efo/EFO_0009948 | http://www.ebi.ac.uk/efo/EFO_0009950 |
placental insufficiency | http://www.ebi.ac.uk/efo/EFO_0007443 | http://www.ebi.ac.uk/efo/EFO_0007441 |
placenta accreta | http://www.ebi.ac.uk/efo/EFO_0007440 | http://www.ebi.ac.uk/efo/EFO_0007441 |
placenta praevia | http://www.ebi.ac.uk/efo/EFO_0007442 | http://www.ebi.ac.uk/efo/EFO_0007441 |
oligohydramnios | http://www.ebi.ac.uk/efo/EFO_0007401 | http://www.ebi.ac.uk/efo/EFO_0007441 |
placental retention | http://www.ebi.ac.uk/efo/EFO_0009578 | http://www.ebi.ac.uk/efo/EFO_0007441 |
post term pregnancy | http://www.ebi.ac.uk/efo/EFO_0009681 | http://www.ebi.ac.uk/efo/EFO_0009682 |
dystocia | http://www.ebi.ac.uk/efo/EFO_1000911 | http://www.ebi.ac.uk/efo/EFO_0009682 |
hyperemesis gravidarum | http://www.ebi.ac.uk/efo/EFO_1000971 | http://www.ebi.ac.uk/efo/EFO_0009682 |
idiopathic disease | http://purl.obolibrary.org/obo/MONDO_0700007 | http://www.ebi.ac.uk/efo/EFO_0000408 |
dropped head syndrome | http://www.ebi.ac.uk/efo/EFO_1001987 | http://purl.obolibrary.org/obo/MONDO_0700007 |
idiopathic scoliosis | http://purl.obolibrary.org/obo/MONDO_0000726 | http://purl.obolibrary.org/obo/MONDO_0700007 |
adolescent idiopathic scoliosis | http://www.ebi.ac.uk/efo/EFO_0005423 | http://purl.obolibrary.org/obo/MONDO_0000726 |
urinary system disease | http://www.ebi.ac.uk/efo/EFO_0009690 | http://www.ebi.ac.uk/efo/EFO_0000408 |
ureteral disorder | http://purl.obolibrary.org/obo/MONDO_0001926 | http://www.ebi.ac.uk/efo/EFO_0009690 |
ureterolithiasis | http://www.ebi.ac.uk/efo/EFO_1001228 | http://purl.obolibrary.org/obo/MONDO_0001926 |
vesicoureteral reflux | http://www.ebi.ac.uk/efo/EFO_0007536 | http://purl.obolibrary.org/obo/MONDO_0001926 |
kidney disease | http://www.ebi.ac.uk/efo/EFO_0003086 | http://www.ebi.ac.uk/efo/EFO_0009690 |
nephrolithiasis | http://www.ebi.ac.uk/efo/EFO_0004253 | http://www.ebi.ac.uk/efo/EFO_0003086 |
renal glycosuria | http://www.ebi.ac.uk/efo/EFO_1001151 | http://www.ebi.ac.uk/efo/EFO_0003086 |
renal tubular transport disease | http://www.ebi.ac.uk/efo/EFO_1000647 | http://www.ebi.ac.uk/efo/EFO_0003086 |
pseudohypoaldosteronism | http://purl.obolibrary.org/obo/MONDO_0018638 | http://www.ebi.ac.uk/efo/EFO_1000647 |
renal tubule disease | http://www.ebi.ac.uk/efo/EFO_0009566 | http://www.ebi.ac.uk/efo/EFO_0003086 |
anuria | http://www.ebi.ac.uk/efo/EFO_0009530 | http://www.ebi.ac.uk/efo/EFO_0003086 |
post-operative acute kidney injury | http://www.ebi.ac.uk/efo/EFO_0009955 | http://www.ebi.ac.uk/efo/EFO_0003086 |
diabetes insipidus | http://purl.obolibrary.org/obo/MONDO_0004782 | http://www.ebi.ac.uk/efo/EFO_0003086 |
stricture or kinking of ureter | http://purl.obolibrary.org/obo/MONDO_0002674 | http://www.ebi.ac.uk/efo/EFO_0003086 |
nephrosis | http://purl.obolibrary.org/obo/MONDO_0002331 | http://www.ebi.ac.uk/efo/EFO_0003086 |
chronic kidney disease | http://www.ebi.ac.uk/efo/EFO_0003884 | http://www.ebi.ac.uk/efo/EFO_0003086 |
congenital chronic kidney disease | http://www.ebi.ac.uk/efo/EFO_0021433 | http://www.ebi.ac.uk/efo/EFO_0003884 |
stage 5 chronic kidney disease | http://www.ebi.ac.uk/efo/EFO_0009909 | http://www.ebi.ac.uk/efo/EFO_0003884 |
hydronephrosis | http://www.ebi.ac.uk/efo/EFO_0005562 | http://www.ebi.ac.uk/efo/EFO_0003086 |
glomerular disease | http://www.ebi.ac.uk/efo/EFO_1002049 | http://www.ebi.ac.uk/efo/EFO_0003086 |
primary glomerular disease | http://purl.obolibrary.org/obo/MONDO_0015163 | http://www.ebi.ac.uk/efo/EFO_1002049 |
nail-patella-like renal disease | http://purl.obolibrary.org/obo/MONDO_0009724 | http://purl.obolibrary.org/obo/MONDO_0015163 |
disease of glomerular basement membrane | http://purl.obolibrary.org/obo/MONDO_0019723 | http://www.ebi.ac.uk/efo/EFO_1002049 |
secondary glomerular disease | http://purl.obolibrary.org/obo/MONDO_0019724 | http://www.ebi.ac.uk/efo/EFO_1002049 |
relapsing polychondritis | http://www.ebi.ac.uk/efo/EFO_1001148 | http://purl.obolibrary.org/obo/MONDO_0019724 |
glomerulosclerosis | http://purl.obolibrary.org/obo/MONDO_0000490 | http://www.ebi.ac.uk/efo/EFO_1002049 |
kidney failure | http://www.ebi.ac.uk/efo/EFO_1002048 | http://www.ebi.ac.uk/efo/EFO_0003086 |
uremia | http://www.ebi.ac.uk/efo/EFO_1001226 | http://www.ebi.ac.uk/efo/EFO_1002048 |
nephropathy secondary to a storage or other metabolic disease | http://purl.obolibrary.org/obo/MONDO_0019743 | http://www.ebi.ac.uk/efo/EFO_0003086 |
Cystic Kidney Disease | http://www.ebi.ac.uk/efo/EFO_0008615 | http://www.ebi.ac.uk/efo/EFO_0003086 |
Polycystic Kidney Disease | http://www.ebi.ac.uk/efo/EFO_0008620 | http://www.ebi.ac.uk/efo/EFO_0008615 |
Microcystic Renal Disease | http://www.ebi.ac.uk/efo/EFO_0008621 | http://www.ebi.ac.uk/efo/EFO_0008620 |
Complex Cyst of Kidney | http://www.ebi.ac.uk/efo/EFO_0008616 | http://www.ebi.ac.uk/efo/EFO_0008615 |
Simple Cyst of Kidney | http://www.ebi.ac.uk/efo/EFO_0008619 | http://www.ebi.ac.uk/efo/EFO_0008615 |
Medullary Cystic Kidney Disease Type II | http://www.ebi.ac.uk/efo/EFO_0008618 | http://www.ebi.ac.uk/efo/EFO_0008615 |
Medullary Cystic Kidney Disease Type I | http://www.ebi.ac.uk/efo/EFO_0008617 | http://www.ebi.ac.uk/efo/EFO_0008615 |
impaired renal function disease | http://purl.obolibrary.org/obo/MONDO_0001343 | http://www.ebi.ac.uk/efo/EFO_0003086 |
kidney papillary necrosis | http://www.ebi.ac.uk/efo/EFO_1001004 | http://www.ebi.ac.uk/efo/EFO_0003086 |
kidney cortex necrosis | http://www.ebi.ac.uk/efo/EFO_1001003 | http://www.ebi.ac.uk/efo/EFO_0003086 |
renal aminoaciduria | http://www.ebi.ac.uk/efo/EFO_1001149 | http://www.ebi.ac.uk/efo/EFO_0003086 |
urolithiasis | http://purl.obolibrary.org/obo/MONDO_0024647 | http://www.ebi.ac.uk/efo/EFO_0009690 |
lower urinary tract calculus | http://purl.obolibrary.org/obo/MONDO_0004828 | http://purl.obolibrary.org/obo/MONDO_0024647 |
bladder calculus | http://www.ebi.ac.uk/efo/EFO_1000839 | http://purl.obolibrary.org/obo/MONDO_0004828 |
calcium oxalate urolithiasis | http://www.ebi.ac.uk/efo/EFO_0009065 | http://purl.obolibrary.org/obo/MONDO_0024647 |
cystine urolithiasis | http://www.ebi.ac.uk/efo/EFO_0010826 | http://purl.obolibrary.org/obo/MONDO_0024647 |
bladder disease | http://www.ebi.ac.uk/efo/EFO_1000018 | http://www.ebi.ac.uk/efo/EFO_0009690 |
urinary bladder fistula | http://www.ebi.ac.uk/efo/EFO_1001862 | http://www.ebi.ac.uk/efo/EFO_1000018 |
Neurogenic bladder | http://purl.obolibrary.org/obo/HP_0000011 | http://www.ebi.ac.uk/efo/EFO_1000018 |
overactive bladder | http://www.ebi.ac.uk/efo/EFO_1000781 | http://www.ebi.ac.uk/efo/EFO_1000018 |
bladder neck obstruction | http://www.ebi.ac.uk/efo/EFO_1000840 | http://www.ebi.ac.uk/efo/EFO_1000018 |
urethral disease | http://www.ebi.ac.uk/efo/EFO_0009689 | http://www.ebi.ac.uk/efo/EFO_0009690 |
urethral syndrome | http://purl.obolibrary.org/obo/MONDO_0001730 | http://www.ebi.ac.uk/efo/EFO_0009689 |
urethral intrinsic sphincter deficiency | http://purl.obolibrary.org/obo/MONDO_0001721 | http://www.ebi.ac.uk/efo/EFO_0009689 |
urinary tract obstruction | http://www.ebi.ac.uk/efo/EFO_0009571 | http://www.ebi.ac.uk/efo/EFO_0009690 |
perineum disease | http://www.ebi.ac.uk/efo/EFO_0010689 | http://www.ebi.ac.uk/efo/EFO_0000408 |
musculoskeletal system disease | http://www.ebi.ac.uk/efo/EFO_0009676 | http://www.ebi.ac.uk/efo/EFO_0000408 |
ligament disorder | http://purl.obolibrary.org/obo/MONDO_0045044 | http://www.ebi.ac.uk/efo/EFO_0009676 |
disorder of uterine broad ligament | http://purl.obolibrary.org/obo/MONDO_0045043 | http://purl.obolibrary.org/obo/MONDO_0045044 |
skeletal system disease | http://www.ebi.ac.uk/efo/EFO_0002461 | http://www.ebi.ac.uk/efo/EFO_0009676 |
bone disease | http://www.ebi.ac.uk/efo/EFO_0004260 | http://www.ebi.ac.uk/efo/EFO_0002461 |
osteonecrosis | http://www.ebi.ac.uk/efo/EFO_0004259 | http://www.ebi.ac.uk/efo/EFO_0004260 |
idiopathic osteonecrosis of the femoral head | http://www.ebi.ac.uk/efo/EFO_1001930 | http://www.ebi.ac.uk/efo/EFO_0004259 |
Legg-Calve-Perthes disease | http://purl.obolibrary.org/obo/MONDO_0007885 | http://www.ebi.ac.uk/efo/EFO_0004259 |
avascular necrosis | http://purl.obolibrary.org/obo/MONDO_0018373 | http://www.ebi.ac.uk/efo/EFO_0004259 |
secondary avascular necrosis | http://purl.obolibrary.org/obo/MONDO_0018374 | http://purl.obolibrary.org/obo/MONDO_0018373 |
primary avascular necrosis | http://purl.obolibrary.org/obo/MONDO_0018379 | http://purl.obolibrary.org/obo/MONDO_0018373 |
secondary hypertrophic osteoarthropathy | http://www.ebi.ac.uk/efo/EFO_1001174 | http://www.ebi.ac.uk/efo/EFO_0004260 |
Epiphyses, Slipped | http://www.ebi.ac.uk/efo/EFO_1001317 | http://www.ebi.ac.uk/efo/EFO_0004260 |
De Quervain disease | http://www.ebi.ac.uk/efo/EFO_1000891 | http://www.ebi.ac.uk/efo/EFO_0004260 |
disorder of patella | http://www.ebi.ac.uk/efo/EFO_0009665 | http://www.ebi.ac.uk/efo/EFO_0004260 |
aggrecan-related bone disorder | http://purl.obolibrary.org/obo/MONDO_0018239 | http://www.ebi.ac.uk/efo/EFO_0004260 |
TRPV4-related bone disorder | http://purl.obolibrary.org/obo/MONDO_0018240 | http://www.ebi.ac.uk/efo/EFO_0004260 |
periprosthetic osteolysis | http://www.ebi.ac.uk/efo/EFO_0009761 | http://www.ebi.ac.uk/efo/EFO_0004260 |
congenital vascular bone syndrome | http://purl.obolibrary.org/obo/MONDO_0016524 | http://www.ebi.ac.uk/efo/EFO_0004260 |
angioosteohypotrophic syndrome | http://purl.obolibrary.org/obo/MONDO_0019156 | http://purl.obolibrary.org/obo/MONDO_0016524 |
bone inflammation disease | http://purl.obolibrary.org/obo/MONDO_0002614 | http://www.ebi.ac.uk/efo/EFO_0004260 |
disease of bone structure | http://purl.obolibrary.org/obo/MONDO_0000836 | http://www.ebi.ac.uk/efo/EFO_0004260 |
scoliosis | http://www.ebi.ac.uk/efo/EFO_0004273 | http://purl.obolibrary.org/obo/MONDO_0000836 |
Thoracolumbar scoliosis | http://purl.obolibrary.org/obo/HP_0002944 | http://www.ebi.ac.uk/efo/EFO_0004273 |
spondylolysis | http://www.ebi.ac.uk/efo/EFO_0005649 | http://purl.obolibrary.org/obo/MONDO_0000836 |
spinal stenosis | http://www.ebi.ac.uk/efo/EFO_0007490 | http://purl.obolibrary.org/obo/MONDO_0000836 |
spondylosis | http://purl.obolibrary.org/obo/MONDO_0002253 | http://purl.obolibrary.org/obo/MONDO_0000836 |
bone remodeling disease | http://purl.obolibrary.org/obo/MONDO_0000833 | http://www.ebi.ac.uk/efo/EFO_0004260 |
rickets | http://www.ebi.ac.uk/efo/EFO_0005583 | http://purl.obolibrary.org/obo/MONDO_0000833 |
osteomalacia | http://www.ebi.ac.uk/efo/EFO_1002027 | http://www.ebi.ac.uk/efo/EFO_0005583 |
vitamin D-dependent rickets | http://purl.obolibrary.org/obo/MONDO_0024299 | http://www.ebi.ac.uk/efo/EFO_0005583 |
hypophosphatemic rickets | http://purl.obolibrary.org/obo/MONDO_0024300 | http://www.ebi.ac.uk/efo/EFO_0005583 |
fibrous dysplasia | http://purl.obolibrary.org/obo/MONDO_0000845 | http://purl.obolibrary.org/obo/MONDO_0000833 |
polyostotic fibrous dysplasia | http://purl.obolibrary.org/obo/MONDO_0008274 | http://purl.obolibrary.org/obo/MONDO_0000845 |
Polyostotic fibrous dysplasia | http://www.orpha.net/ORDO/Orphanet_93276 | http://purl.obolibrary.org/obo/MONDO_0000845 |
Monostotic fibrous dysplasia | http://www.orpha.net/ORDO/Orphanet_93277 | http://purl.obolibrary.org/obo/MONDO_0000845 |
monostotic fibrous dysplasia | http://purl.obolibrary.org/obo/MONDO_0019665 | http://purl.obolibrary.org/obo/MONDO_0000845 |
bone resorption disease | http://purl.obolibrary.org/obo/MONDO_0000837 | http://purl.obolibrary.org/obo/MONDO_0000833 |
osteoporosis | http://www.ebi.ac.uk/efo/EFO_0003882 | http://purl.obolibrary.org/obo/MONDO_0000837 |
postmenopausal osteoporosis | http://www.ebi.ac.uk/efo/EFO_0003854 | http://www.ebi.ac.uk/efo/EFO_0003882 |
X-linked osteoporosis with fractures | http://purl.obolibrary.org/obo/MONDO_0018315 | http://www.ebi.ac.uk/efo/EFO_0003882 |
osteitis fibrosa | http://www.ebi.ac.uk/efo/EFO_0007413 | http://purl.obolibrary.org/obo/MONDO_0000837 |
osteosclerosis | http://purl.obolibrary.org/obo/MONDO_0002933 | http://purl.obolibrary.org/obo/MONDO_0000833 |
osteopoikilosis | http://purl.obolibrary.org/obo/MONDO_0001414 | http://purl.obolibrary.org/obo/MONDO_0002933 |
dysostosis, Stanescu type | http://purl.obolibrary.org/obo/MONDO_0007396 | http://purl.obolibrary.org/obo/MONDO_0002933 |
hyperostosis | http://purl.obolibrary.org/obo/MONDO_0002185 | http://purl.obolibrary.org/obo/MONDO_0000833 |
X-linked calvarial hyperostosis | http://purl.obolibrary.org/obo/MONDO_0010541 | http://purl.obolibrary.org/obo/MONDO_0002185 |
exostosis | http://purl.obolibrary.org/obo/MONDO_0002181 | http://purl.obolibrary.org/obo/MONDO_0002185 |
hereditary multiple exostoses | http://www.ebi.ac.uk/efo/EFO_0005560 | http://www.ebi.ac.uk/efo/EFO_0004260 |
perlecan-related bone disorder | http://purl.obolibrary.org/obo/MONDO_0019689 | http://www.ebi.ac.uk/efo/EFO_0004260 |
sulfation-related bone disorder | http://purl.obolibrary.org/obo/MONDO_0019688 | http://www.ebi.ac.uk/efo/EFO_0004260 |
FGFR3-related chondrodysplasia | http://purl.obolibrary.org/obo/MONDO_0019685 | http://www.ebi.ac.uk/efo/EFO_0004260 |
filamin-related bone disorder | http://purl.obolibrary.org/obo/MONDO_0019690 | http://www.ebi.ac.uk/efo/EFO_0004260 |
Spinal Osteochondrosis | http://www.ebi.ac.uk/efo/EFO_0008576 | http://www.ebi.ac.uk/efo/EFO_0004260 |
Juvenile Osteochondrosis | http://www.ebi.ac.uk/efo/EFO_0008577 | http://www.ebi.ac.uk/efo/EFO_0004260 |
osteoradionecrosis | http://www.ebi.ac.uk/efo/EFO_1001821 | http://www.ebi.ac.uk/efo/EFO_0004260 |
Spinal Osteophytosis | http://www.ebi.ac.uk/efo/EFO_1001846 | http://www.ebi.ac.uk/efo/EFO_0004260 |
coxoauricular syndrome | http://purl.obolibrary.org/obo/MONDO_0007392 | http://www.ebi.ac.uk/efo/EFO_0004260 |
mixed sclerosing bone dystrophy with extra-skeletal manifestations | http://purl.obolibrary.org/obo/MONDO_0017930 | http://www.ebi.ac.uk/efo/EFO_0004260 |
Hammer Toe Syndrome | http://www.ebi.ac.uk/efo/EFO_1001336 | http://www.ebi.ac.uk/efo/EFO_0002461 |
Pubic Symphysis Diastasis | http://www.ebi.ac.uk/efo/EFO_1001833 | http://www.ebi.ac.uk/efo/EFO_0002461 |
vertebral column disorder | http://purl.obolibrary.org/obo/MONDO_0000812 | http://www.ebi.ac.uk/efo/EFO_0002461 |
vertebral disorder | http://purl.obolibrary.org/obo/MONDO_0045002 | http://purl.obolibrary.org/obo/MONDO_0000812 |
vertebral joint disease | http://www.ebi.ac.uk/efo/EFO_0009477 | http://purl.obolibrary.org/obo/MONDO_0000812 |
Intervertebral Disc Displacement | http://www.ebi.ac.uk/efo/EFO_1001800 | http://www.ebi.ac.uk/efo/EFO_0009477 |
lumbar disc herniation | http://www.ebi.ac.uk/efo/EFO_1002005 | http://www.ebi.ac.uk/efo/EFO_1001800 |
flatfoot | http://www.ebi.ac.uk/efo/EFO_0003874 | http://www.ebi.ac.uk/efo/EFO_0002461 |
symphalangism | http://purl.obolibrary.org/obo/MONDO_0000151 | http://www.ebi.ac.uk/efo/EFO_0002461 |
cartilage disease | http://www.ebi.ac.uk/efo/EFO_0005802 | http://www.ebi.ac.uk/efo/EFO_0002461 |
joint disease | http://www.ebi.ac.uk/efo/EFO_1000999 | http://www.ebi.ac.uk/efo/EFO_0002461 |
hypermobility syndrome | http://purl.obolibrary.org/obo/MONDO_0001798 | http://www.ebi.ac.uk/efo/EFO_1000999 |
shoulder impingement syndrome | http://www.ebi.ac.uk/efo/EFO_1001178 | http://www.ebi.ac.uk/efo/EFO_1000999 |
patellofemoral pain syndrome | http://www.ebi.ac.uk/efo/EFO_1001092 | http://www.ebi.ac.uk/efo/EFO_1000999 |
Hemarthrosis | http://www.ebi.ac.uk/efo/EFO_1001344 | http://www.ebi.ac.uk/efo/EFO_1000999 |
neurogenic arthropathy | http://www.ebi.ac.uk/efo/EFO_1001378 | http://www.ebi.ac.uk/efo/EFO_1000999 |
articular cartilage disorder | http://purl.obolibrary.org/obo/MONDO_0003816 | http://www.ebi.ac.uk/efo/EFO_1000999 |
chondromalacia | http://purl.obolibrary.org/obo/MONDO_0002342 | http://purl.obolibrary.org/obo/MONDO_0003816 |
hydrarthrosis | http://purl.obolibrary.org/obo/MONDO_0003366 | http://www.ebi.ac.uk/efo/EFO_1000999 |
crystal arthropathy | http://purl.obolibrary.org/obo/MONDO_0022208 | http://www.ebi.ac.uk/efo/EFO_1000999 |
ankylosis | http://purl.obolibrary.org/obo/MONDO_0002257 | http://www.ebi.ac.uk/efo/EFO_1000999 |
ganglion or cyst of synovium/tendon/bursa | http://purl.obolibrary.org/obo/MONDO_0004874 | http://www.ebi.ac.uk/efo/EFO_1000999 |
auriculoosteodysplasia | http://purl.obolibrary.org/obo/MONDO_0007177 | http://www.ebi.ac.uk/efo/EFO_0009676 |
synovium disorder | http://purl.obolibrary.org/obo/MONDO_0056799 | http://www.ebi.ac.uk/efo/EFO_0009676 |
synovial bursa disorder | http://purl.obolibrary.org/obo/MONDO_0056802 | http://purl.obolibrary.org/obo/MONDO_0056799 |
muscular disease | http://www.ebi.ac.uk/efo/EFO_0002970 | http://www.ebi.ac.uk/efo/EFO_0009676 |
Medial Tibial Stress Syndrome | http://www.ebi.ac.uk/efo/EFO_1001367 | http://www.ebi.ac.uk/efo/EFO_0002970 |
rotator cuff tear | http://www.ebi.ac.uk/efo/EFO_1001250 | http://www.ebi.ac.uk/efo/EFO_0002970 |
muscle tissue disorder | http://purl.obolibrary.org/obo/MONDO_0003939 | http://www.ebi.ac.uk/efo/EFO_0002970 |
myopathy | http://www.ebi.ac.uk/efo/EFO_0004145 | http://purl.obolibrary.org/obo/MONDO_0003939 |
myofascial pain syndrome | http://www.ebi.ac.uk/efo/EFO_1001054 | http://www.ebi.ac.uk/efo/EFO_0004145 |
Skeletal myopathy | http://purl.obolibrary.org/obo/HP_0003756 | http://www.ebi.ac.uk/efo/EFO_0004145 |
myoglobinuria | http://purl.obolibrary.org/obo/MONDO_0000866 | http://www.ebi.ac.uk/efo/EFO_0004145 |
congenital structural myopathy | http://purl.obolibrary.org/obo/MONDO_0002921 | http://www.ebi.ac.uk/efo/EFO_0004145 |
congenital fiber-type disproportion myopathy | http://purl.obolibrary.org/obo/MONDO_0009711 | http://purl.obolibrary.org/obo/MONDO_0002921 |
non-dystrophic myopathy | http://purl.obolibrary.org/obo/MONDO_0016110 | http://www.ebi.ac.uk/efo/EFO_0004145 |
rippling muscle disease | http://purl.obolibrary.org/obo/MONDO_0011634 | http://purl.obolibrary.org/obo/MONDO_0016110 |
acquired rippling muscle disease | http://purl.obolibrary.org/obo/MONDO_0021142 | http://purl.obolibrary.org/obo/MONDO_0011634 |
congenital myopathy | http://purl.obolibrary.org/obo/MONDO_0019952 | http://purl.obolibrary.org/obo/MONDO_0016110 |
cylindrical spirals myopathy | http://purl.obolibrary.org/obo/MONDO_0008058 | http://purl.obolibrary.org/obo/MONDO_0019952 |
congenital myopathy with cores | http://purl.obolibrary.org/obo/MONDO_0015765 | http://purl.obolibrary.org/obo/MONDO_0019952 |
myopathy with hexagonally cross-linked tubular arrays | http://purl.obolibrary.org/obo/MONDO_0015755 | http://purl.obolibrary.org/obo/MONDO_0019952 |
reducing body myopathy | http://purl.obolibrary.org/obo/MONDO_0019948 | http://purl.obolibrary.org/obo/MONDO_0019952 |
benign Samaritan congenital myopathy | http://purl.obolibrary.org/obo/MONDO_0017936 | http://purl.obolibrary.org/obo/MONDO_0019952 |
fingerprint body myopathy | http://purl.obolibrary.org/obo/MONDO_0010591 | http://purl.obolibrary.org/obo/MONDO_0019952 |
congenital nemaline myopathy | http://purl.obolibrary.org/obo/MONDO_0018701 | http://purl.obolibrary.org/obo/MONDO_0019952 |
metabolic myopathy | http://purl.obolibrary.org/obo/MONDO_0020123 | http://purl.obolibrary.org/obo/MONDO_0016110 |
muscular glycogenosis | http://purl.obolibrary.org/obo/MONDO_0016118 | http://purl.obolibrary.org/obo/MONDO_0020123 |
muscular lipidosis | http://purl.obolibrary.org/obo/MONDO_0016117 | http://purl.obolibrary.org/obo/MONDO_0020123 |
inclusion myopathy | http://purl.obolibrary.org/obo/MONDO_0016112 | http://purl.obolibrary.org/obo/MONDO_0016110 |
hereditary inclusion body myopathy type 4 | http://purl.obolibrary.org/obo/MONDO_0017931 | http://purl.obolibrary.org/obo/MONDO_0016112 |
acute quadriplegic myopathy | http://www.ebi.ac.uk/efo/EFO_0000225 | http://www.ebi.ac.uk/efo/EFO_0004145 |
skeletal muscle disorder | http://purl.obolibrary.org/obo/MONDO_0020120 | http://purl.obolibrary.org/obo/MONDO_0003939 |
muscular dystrophy-white matter spongiosis syndrome | http://purl.obolibrary.org/obo/MONDO_0015994 | http://purl.obolibrary.org/obo/MONDO_0020120 |
periodic paralysis | http://purl.obolibrary.org/obo/MONDO_0016122 | http://purl.obolibrary.org/obo/MONDO_0020120 |
acquired skeletal muscle disease | http://purl.obolibrary.org/obo/MONDO_0016105 | http://purl.obolibrary.org/obo/MONDO_0020120 |
Tel Hashomer camptodactyly syndrome | http://purl.obolibrary.org/obo/MONDO_0008901 | http://purl.obolibrary.org/obo/MONDO_0020120 |
femoral hernia | http://www.ebi.ac.uk/efo/EFO_1001791 | http://www.ebi.ac.uk/efo/EFO_0002970 |
contracture | http://www.ebi.ac.uk/efo/EFO_0003899 | http://www.ebi.ac.uk/efo/EFO_0002970 |
Dupuytren Contracture | http://www.ebi.ac.uk/efo/EFO_0004229 | http://www.ebi.ac.uk/efo/EFO_0003899 |
rhabdomyolysis | http://www.ebi.ac.uk/efo/EFO_0003867 | http://www.ebi.ac.uk/efo/EFO_0002970 |
Crush Syndrome | http://www.ebi.ac.uk/efo/EFO_1001299 | http://www.ebi.ac.uk/efo/EFO_0003867 |
Acute rhabdomyolysis | http://purl.obolibrary.org/obo/HP_0008942 | http://www.ebi.ac.uk/efo/EFO_0003867 |
sarcopenia | http://www.ebi.ac.uk/efo/EFO_1000653 | http://www.ebi.ac.uk/efo/EFO_0002970 |
chronic disease | http://www.ebi.ac.uk/efo/EFO_0009714 | http://www.ebi.ac.uk/efo/EFO_0000408 |
soft tissue disease | http://www.ebi.ac.uk/efo/EFO_0009470 | http://www.ebi.ac.uk/efo/EFO_0000408 |
breast disease | http://www.ebi.ac.uk/efo/EFO_0009483 | http://www.ebi.ac.uk/efo/EFO_0000408 |
breast adenosis | http://www.ebi.ac.uk/efo/EFO_0006891 | http://www.ebi.ac.uk/efo/EFO_0009483 |
excess breast volume or number | http://purl.obolibrary.org/obo/MONDO_0015852 | http://www.ebi.ac.uk/efo/EFO_0009483 |
deficient breast volume or number | http://purl.obolibrary.org/obo/MONDO_0015853 | http://www.ebi.ac.uk/efo/EFO_0009483 |
syndromic breast hypoplasia/aplasia | http://purl.obolibrary.org/obo/MONDO_0015856 | http://purl.obolibrary.org/obo/MONDO_0015853 |
breast fibrocystic disease | http://www.ebi.ac.uk/efo/EFO_0003014 | http://www.ebi.ac.uk/efo/EFO_0009483 |
non-proliferative fibrocystic change of the breast | http://purl.obolibrary.org/obo/MONDO_0003724 | http://www.ebi.ac.uk/efo/EFO_0003014 |
complication | http://www.ebi.ac.uk/efo/EFO_0009518 | http://www.ebi.ac.uk/efo/EFO_0000408 |
Multiple Organ Failure | http://www.ebi.ac.uk/efo/EFO_1001373 | http://www.ebi.ac.uk/efo/EFO_0009518 |
aseptic loosening | http://www.ebi.ac.uk/efo/EFO_0010725 | http://www.ebi.ac.uk/efo/EFO_0009518 |
trauma complication | http://www.ebi.ac.uk/efo/EFO_0009888 | http://www.ebi.ac.uk/efo/EFO_0009518 |
death by undetermined cause | http://www.ebi.ac.uk/efo/EFO_0009434 | http://www.ebi.ac.uk/efo/EFO_0009518 |
device complication | http://www.ebi.ac.uk/efo/EFO_0009519 | http://www.ebi.ac.uk/efo/EFO_0009518 |
adverse effect | http://www.ebi.ac.uk/efo/EFO_0009658 | http://www.ebi.ac.uk/efo/EFO_0009518 |
immune-mediated adverse reaction | http://www.ebi.ac.uk/efo/EFO_0020930 | http://www.ebi.ac.uk/efo/EFO_0009658 |
radiation-induced disorder | http://www.ebi.ac.uk/efo/EFO_0009565 | http://www.ebi.ac.uk/efo/EFO_0000408 |
disease of genitourinary system | http://www.ebi.ac.uk/efo/EFO_0009663 | http://www.ebi.ac.uk/efo/EFO_0000408 |
reproductive system disease | http://www.ebi.ac.uk/efo/EFO_0000512 | http://www.ebi.ac.uk/efo/EFO_0009663 |
pelvic organ prolapse | http://www.ebi.ac.uk/efo/EFO_0004710 | http://www.ebi.ac.uk/efo/EFO_0000512 |
uterine prolapse | http://www.ebi.ac.uk/efo/EFO_1001864 | http://www.ebi.ac.uk/efo/EFO_0004710 |
infertility | http://www.ebi.ac.uk/efo/EFO_0000545 | http://www.ebi.ac.uk/efo/EFO_0000512 |
male infertility | http://www.ebi.ac.uk/efo/EFO_0004248 | http://www.ebi.ac.uk/efo/EFO_0000545 |
non-syndromic male infertility due to sperm motility disorder | http://purl.obolibrary.org/obo/MONDO_0017173 | http://www.ebi.ac.uk/efo/EFO_0004248 |
primary hypergonadotropic hypogonadism-partial alopecia syndrome | http://purl.obolibrary.org/obo/MONDO_0009420 | http://www.ebi.ac.uk/efo/EFO_0004248 |
hypogonadism-mitral valve prolapse-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0016385 | http://www.ebi.ac.uk/efo/EFO_0004248 |
male infertility with azoospermia or oligozoospermia due to single gene mutation | http://purl.obolibrary.org/obo/MONDO_0018393 | http://www.ebi.ac.uk/efo/EFO_0004248 |
male infertility with teratozoospermia due to single gene mutation | http://purl.obolibrary.org/obo/MONDO_0018394 | http://www.ebi.ac.uk/efo/EFO_0004248 |
male infertility due to globozoospermia | http://purl.obolibrary.org/obo/MONDO_0015746 | http://purl.obolibrary.org/obo/MONDO_0018394 |
female infertility | http://www.ebi.ac.uk/efo/EFO_0008560 | http://www.ebi.ac.uk/efo/EFO_0000545 |
female infertility due to oocyte meiotic arrest | http://purl.obolibrary.org/obo/MONDO_0044626 | http://www.ebi.ac.uk/efo/EFO_0008560 |
physiological sexual disorder | http://purl.obolibrary.org/obo/MONDO_0002134 | http://www.ebi.ac.uk/efo/EFO_0000512 |
erectile dysfunction | http://www.ebi.ac.uk/efo/EFO_0004234 | http://purl.obolibrary.org/obo/MONDO_0002134 |
vasculogenic impotence | http://www.ebi.ac.uk/efo/EFO_1001234 | http://www.ebi.ac.uk/efo/EFO_0004234 |
Bartholin gland disease | http://www.ebi.ac.uk/efo/EFO_0009469 | http://www.ebi.ac.uk/efo/EFO_0000512 |
female reproductive system disease | http://www.ebi.ac.uk/efo/EFO_0009549 | http://www.ebi.ac.uk/efo/EFO_0000512 |
Gynatresia | http://www.ebi.ac.uk/efo/EFO_1001335 | http://www.ebi.ac.uk/efo/EFO_0009549 |
anomaly of puberty or/and menstrual cycle | http://purl.obolibrary.org/obo/MONDO_0015860 | http://www.ebi.ac.uk/efo/EFO_0009549 |
uterovaginal malformation | http://purl.obolibrary.org/obo/MONDO_0015828 | http://www.ebi.ac.uk/efo/EFO_0009549 |
mullerian aplasia | http://purl.obolibrary.org/obo/MONDO_0019128 | http://purl.obolibrary.org/obo/MONDO_0015828 |
partial bilateral aplasia of the mullerian ducts | http://purl.obolibrary.org/obo/MONDO_0015830 | http://purl.obolibrary.org/obo/MONDO_0019128 |
unilateral aplasia of the mullerian ducts | http://purl.obolibrary.org/obo/MONDO_0015831 | http://purl.obolibrary.org/obo/MONDO_0019128 |
pseudounicornuate uterus | http://purl.obolibrary.org/obo/MONDO_0015833 | http://purl.obolibrary.org/obo/MONDO_0015831 |
true unicornuate uterus | http://purl.obolibrary.org/obo/MONDO_0015832 | http://purl.obolibrary.org/obo/MONDO_0015831 |
vaginal disorder | http://purl.obolibrary.org/obo/MONDO_0001433 | http://www.ebi.ac.uk/efo/EFO_0009549 |
prolapse of female genital organ | http://purl.obolibrary.org/obo/MONDO_0001592 | http://www.ebi.ac.uk/efo/EFO_0009549 |
enterocele | http://www.ebi.ac.uk/efo/EFO_0020006 | http://purl.obolibrary.org/obo/MONDO_0001592 |
hernia of ovary and fallopian tube | http://purl.obolibrary.org/obo/MONDO_0001578 | http://www.ebi.ac.uk/efo/EFO_0009549 |
Genetic disorder of sex development of gynecological interest | http://www.orpha.net/ORDO/Orphanet_325665 | http://www.ebi.ac.uk/efo/EFO_0009549 |
Gonadal dysgenesis of gynecological interest | http://www.orpha.net/ORDO/Orphanet_98074 | http://www.orpha.net/ORDO/Orphanet_325665 |
Syndrome with disorder of sex development of gynecological interest | http://www.orpha.net/ORDO/Orphanet_325638 | http://www.orpha.net/ORDO/Orphanet_325665 |
46,XY disorder of sex development of gynecological interest | http://www.orpha.net/ORDO/Orphanet_325632 | http://www.orpha.net/ORDO/Orphanet_325665 |
abortion | http://www.ebi.ac.uk/efo/EFO_1001491 | http://www.ebi.ac.uk/efo/EFO_0009549 |
septic abortion | http://www.ebi.ac.uk/efo/EFO_1001177 | http://www.ebi.ac.uk/efo/EFO_1001491 |
spontaneous abortion | http://www.ebi.ac.uk/efo/EFO_1001255 | http://www.ebi.ac.uk/efo/EFO_1001491 |
incomplete abortion | http://www.ebi.ac.uk/efo/EFO_1001799 | http://www.ebi.ac.uk/efo/EFO_1001491 |
habitual abortion | http://www.ebi.ac.uk/efo/EFO_1000954 | http://www.ebi.ac.uk/efo/EFO_1001491 |
Uterine Inertia | http://www.ebi.ac.uk/efo/EFO_1001863 | http://www.ebi.ac.uk/efo/EFO_0009549 |
rectocele | http://www.ebi.ac.uk/efo/EFO_1001837 | http://www.ebi.ac.uk/efo/EFO_0009549 |
uterine disorder | http://purl.obolibrary.org/obo/MONDO_0002654 | http://www.ebi.ac.uk/efo/EFO_0009549 |
Uterine Inversion | http://www.ebi.ac.uk/efo/EFO_1001446 | http://purl.obolibrary.org/obo/MONDO_0002654 |
uterine hyperstimulation | http://www.ebi.ac.uk/efo/EFO_0020915 | http://purl.obolibrary.org/obo/MONDO_0002654 |
endometrial disorder | http://purl.obolibrary.org/obo/MONDO_0000931 | http://purl.obolibrary.org/obo/MONDO_0002654 |
endometriosis | http://www.ebi.ac.uk/efo/EFO_0001065 | http://purl.obolibrary.org/obo/MONDO_0000931 |
endometriosis of pelvic peritoneum | http://purl.obolibrary.org/obo/MONDO_0001285 | http://www.ebi.ac.uk/efo/EFO_0001065 |
fallopian tube endometriosis | http://purl.obolibrary.org/obo/MONDO_0001282 | http://www.ebi.ac.uk/efo/EFO_0001065 |
endometriosis of rectovaginal septum and vagina | http://purl.obolibrary.org/obo/MONDO_0001288 | http://www.ebi.ac.uk/efo/EFO_0001065 |
endometriosis of uterus | http://purl.obolibrary.org/obo/MONDO_0010888 | http://www.ebi.ac.uk/efo/EFO_0001065 |
endometrial hyperplasia | http://purl.obolibrary.org/obo/MONDO_0041161 | http://purl.obolibrary.org/obo/MONDO_0000931 |
cervix disorder | http://purl.obolibrary.org/obo/MONDO_0002256 | http://purl.obolibrary.org/obo/MONDO_0002654 |
cervicitis | http://purl.obolibrary.org/obo/MONDO_0002345 | http://purl.obolibrary.org/obo/MONDO_0002256 |
cervical incompetence | http://www.ebi.ac.uk/efo/EFO_0007202 | http://purl.obolibrary.org/obo/MONDO_0002256 |
cervix erosion | http://www.ebi.ac.uk/efo/EFO_1000862 | http://purl.obolibrary.org/obo/MONDO_0002256 |
uterine inflammatory disease | http://www.ebi.ac.uk/efo/EFO_0009572 | http://purl.obolibrary.org/obo/MONDO_0002654 |
hemometra | http://www.ebi.ac.uk/efo/EFO_1000962 | http://purl.obolibrary.org/obo/MONDO_0002654 |
premenstrual tension | http://purl.obolibrary.org/obo/MONDO_0004169 | http://www.ebi.ac.uk/efo/EFO_0009549 |
Bartholin duct cyst | http://purl.obolibrary.org/obo/MONDO_0004593 | http://www.ebi.ac.uk/efo/EFO_0009549 |
vulvar disease | http://purl.obolibrary.org/obo/MONDO_0002187 | http://www.ebi.ac.uk/efo/EFO_0009549 |
vulvar dystrophy | http://purl.obolibrary.org/obo/MONDO_0001938 | http://purl.obolibrary.org/obo/MONDO_0002187 |
ulceration of vulva | http://purl.obolibrary.org/obo/MONDO_0001551 | http://purl.obolibrary.org/obo/MONDO_0002187 |
menopausal or post-menopausal disease | http://www.ebi.ac.uk/efo/EFO_0010685 | http://www.ebi.ac.uk/efo/EFO_0009549 |
Anomaly of puberty or/and menstrual cycle of genetic origin | http://www.orpha.net/ORDO/Orphanet_202940 | http://www.ebi.ac.uk/efo/EFO_0009549 |
Aromatase excess syndrome | http://www.orpha.net/ORDO/Orphanet_178345 | http://www.orpha.net/ORDO/Orphanet_202940 |
Peripheral precocious puberty | http://www.orpha.net/ORDO/Orphanet_178040 | http://www.orpha.net/ORDO/Orphanet_202940 |
Central precocious puberty | http://www.ebi.ac.uk/efo/EFO_0009029 | http://www.orpha.net/ORDO/Orphanet_202940 |
fallopian tube disease | http://www.ebi.ac.uk/efo/EFO_0009548 | http://www.ebi.ac.uk/efo/EFO_0009549 |
female genital tract fistula | http://www.ebi.ac.uk/efo/EFO_0009524 | http://www.ebi.ac.uk/efo/EFO_0009549 |
high-risk pregnancy | http://www.ebi.ac.uk/efo/EFO_0009573 | http://www.ebi.ac.uk/efo/EFO_0009549 |
female genital tuberculosis | http://www.ebi.ac.uk/efo/EFO_1000935 | http://www.ebi.ac.uk/efo/EFO_0009549 |
dysplasia of cervix | http://www.ebi.ac.uk/efo/EFO_1000910 | http://www.ebi.ac.uk/efo/EFO_0009549 |
cervical intraepithelial neoplasia | http://purl.obolibrary.org/obo/MONDO_0022394 | http://www.ebi.ac.uk/efo/EFO_1000910 |
male reproductive system disease | http://www.ebi.ac.uk/efo/EFO_0009555 | http://www.ebi.ac.uk/efo/EFO_0000512 |
spermatocele | http://www.ebi.ac.uk/efo/EFO_1001189 | http://www.ebi.ac.uk/efo/EFO_0009555 |
scrotal disorder | http://purl.obolibrary.org/obo/MONDO_0045003 | http://www.ebi.ac.uk/efo/EFO_0009555 |
testicular hydrocele | http://www.ebi.ac.uk/efo/EFO_1001859 | http://www.ebi.ac.uk/efo/EFO_0009555 |
penile disorder | http://purl.obolibrary.org/obo/MONDO_0002036 | http://www.ebi.ac.uk/efo/EFO_0009555 |
phimosis | http://www.ebi.ac.uk/efo/EFO_1001104 | http://purl.obolibrary.org/obo/MONDO_0002036 |
paraphimosis | http://www.ebi.ac.uk/efo/EFO_1001086 | http://www.ebi.ac.uk/efo/EFO_1001104 |
prostate disease | http://www.ebi.ac.uk/efo/EFO_0009602 | http://www.ebi.ac.uk/efo/EFO_0009555 |
integumentary system disease | http://www.ebi.ac.uk/efo/EFO_0010285 | http://www.ebi.ac.uk/efo/EFO_0000408 |
subcutaneous tissue disorder | http://purl.obolibrary.org/obo/MONDO_0019296 | http://www.ebi.ac.uk/efo/EFO_0010285 |
Lipedema | http://purl.obolibrary.org/obo/MONDO_0013577 | http://purl.obolibrary.org/obo/MONDO_0019296 |
primary lipodystrophy | http://purl.obolibrary.org/obo/MONDO_0019599 | http://purl.obolibrary.org/obo/MONDO_0019296 |
Roch-Leri mesosomatous lipomatosis | http://purl.obolibrary.org/obo/MONDO_0018884 | http://purl.obolibrary.org/obo/MONDO_0019296 |
familial angiolipomatosis | http://purl.obolibrary.org/obo/MONDO_0008792 | http://purl.obolibrary.org/obo/MONDO_0019296 |
skin appendage disorder | http://purl.obolibrary.org/obo/MONDO_0024481 | http://www.ebi.ac.uk/efo/EFO_0010285 |
epidermal appendage anomaly | http://purl.obolibrary.org/obo/MONDO_0019277 | http://purl.obolibrary.org/obo/MONDO_0024481 |
nail anomaly | http://purl.obolibrary.org/obo/MONDO_0019283 | http://purl.obolibrary.org/obo/MONDO_0019277 |
sebaceous gland anomaly | http://purl.obolibrary.org/obo/MONDO_0019286 | http://purl.obolibrary.org/obo/MONDO_0019277 |
follicular mucinosis | http://www.ebi.ac.uk/efo/EFO_1000701 | http://purl.obolibrary.org/obo/MONDO_0019286 |
hair anomaly | http://purl.obolibrary.org/obo/MONDO_0019278 | http://purl.obolibrary.org/obo/MONDO_0019277 |
alopecia | http://purl.obolibrary.org/obo/MONDO_0004907 | http://purl.obolibrary.org/obo/MONDO_0019278 |
endocrine alopecia | http://purl.obolibrary.org/obo/MONDO_0021208 | http://purl.obolibrary.org/obo/MONDO_0004907 |
hereditary hypotrichosis with recurrent skin vesicles | http://purl.obolibrary.org/obo/MONDO_0013136 | http://purl.obolibrary.org/obo/MONDO_0004907 |
alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome | http://purl.obolibrary.org/obo/MONDO_0011019 | http://purl.obolibrary.org/obo/MONDO_0004907 |
alopecia antibody deficiency | http://purl.obolibrary.org/obo/MONDO_0015082 | http://purl.obolibrary.org/obo/MONDO_0004907 |
alopecia totalis | http://purl.obolibrary.org/obo/MONDO_0019080 | http://purl.obolibrary.org/obo/MONDO_0004907 |
hypotrichosis simplex of the scalp | http://purl.obolibrary.org/obo/MONDO_0019575 | http://purl.obolibrary.org/obo/MONDO_0004907 |
Marie Unna hereditary hypotrichosis | http://purl.obolibrary.org/obo/MONDO_0018631 | http://purl.obolibrary.org/obo/MONDO_0004907 |
Graham Little-Piccardi-Lassueur syndrome | http://purl.obolibrary.org/obo/MONDO_0018858 | http://purl.obolibrary.org/obo/MONDO_0004907 |
hypotrichosis simplex | http://purl.obolibrary.org/obo/MONDO_0018914 | http://purl.obolibrary.org/obo/MONDO_0004907 |
sebaceous gland disease | http://www.ebi.ac.uk/efo/EFO_1000763 | http://purl.obolibrary.org/obo/MONDO_0024481 |
Follicular Cyst | http://www.ebi.ac.uk/efo/EFO_1001329 | http://www.ebi.ac.uk/efo/EFO_1000763 |
disorder of pilosebaceous unit | http://purl.obolibrary.org/obo/MONDO_0002917 | http://www.ebi.ac.uk/efo/EFO_0010285 |
nail disorder | http://purl.obolibrary.org/obo/MONDO_0002884 | http://www.ebi.ac.uk/efo/EFO_0010285 |
paronychia | http://www.ebi.ac.uk/efo/EFO_0007421 | http://purl.obolibrary.org/obo/MONDO_0002884 |
pseudoxanthoma elasticum (inherited or acquired) | http://purl.obolibrary.org/obo/MONDO_0024308 | http://www.ebi.ac.uk/efo/EFO_0010285 |
acquired pseudoxanthoma elasticum | http://purl.obolibrary.org/obo/MONDO_0016441 | http://purl.obolibrary.org/obo/MONDO_0024308 |
skin disease | http://www.ebi.ac.uk/efo/EFO_0000701 | http://www.ebi.ac.uk/efo/EFO_0010285 |
hereditary mucoepithelial dysplasia | http://purl.obolibrary.org/obo/MONDO_0008017 | http://www.ebi.ac.uk/efo/EFO_0000701 |
keratosis pilaris | http://purl.obolibrary.org/obo/MONDO_0021036 | http://www.ebi.ac.uk/efo/EFO_0000701 |
dermis disorder | http://purl.obolibrary.org/obo/MONDO_0021154 | http://www.ebi.ac.uk/efo/EFO_0000701 |
antecubital pterygium syndrome | http://purl.obolibrary.org/obo/MONDO_0008339 | http://purl.obolibrary.org/obo/MONDO_0021154 |
linear atrophoderma of Moulin | http://purl.obolibrary.org/obo/MONDO_0015371 | http://purl.obolibrary.org/obo/MONDO_0021154 |
primary cutis verticis gyrata | http://purl.obolibrary.org/obo/MONDO_0019033 | http://purl.obolibrary.org/obo/MONDO_0021154 |
dermis elastic tissue disorder | http://purl.obolibrary.org/obo/MONDO_0019292 | http://purl.obolibrary.org/obo/MONDO_0021154 |
familial cutaneous collagenoma | http://purl.obolibrary.org/obo/MONDO_0007271 | http://purl.obolibrary.org/obo/MONDO_0019292 |
familial reactive perforating collagenosis | http://purl.obolibrary.org/obo/MONDO_0009000 | http://purl.obolibrary.org/obo/MONDO_0019292 |
familial anetoderma | http://purl.obolibrary.org/obo/MONDO_0016445 | http://purl.obolibrary.org/obo/MONDO_0019292 |
acquired dermis elastic tissue disorder | http://purl.obolibrary.org/obo/MONDO_0016434 | http://purl.obolibrary.org/obo/MONDO_0019292 |
mixed dermis disorder | http://purl.obolibrary.org/obo/MONDO_0019294 | http://purl.obolibrary.org/obo/MONDO_0021154 |
recessive aplasia cutis congenita of limbs | http://purl.obolibrary.org/obo/MONDO_0010876 | http://purl.obolibrary.org/obo/MONDO_0019294 |
necrobiosis lipoidica | http://www.ebi.ac.uk/efo/EFO_1000738 | http://purl.obolibrary.org/obo/MONDO_0021154 |
Alternariosis | http://www.ebi.ac.uk/efo/EFO_1001262 | http://www.ebi.ac.uk/efo/EFO_0000701 |
maculopapular eruption | http://www.ebi.ac.uk/efo/EFO_1001253 | http://www.ebi.ac.uk/efo/EFO_0000701 |
severe cutaneous adverse reaction | http://www.ebi.ac.uk/efo/EFO_0006346 | http://www.ebi.ac.uk/efo/EFO_0000701 |
toxic epidermal necrolysis | http://www.ebi.ac.uk/efo/EFO_0004775 | http://www.ebi.ac.uk/efo/EFO_0006346 |
toxic dermatosis | http://purl.obolibrary.org/obo/MONDO_0017396 | http://www.ebi.ac.uk/efo/EFO_0000701 |
multiple benign circumferential skin creases on limbs | http://purl.obolibrary.org/obo/MONDO_0007990 | http://www.ebi.ac.uk/efo/EFO_0000701 |
non-neoplastic nevus | http://purl.obolibrary.org/obo/MONDO_0022749 | http://www.ebi.ac.uk/efo/EFO_0000701 |
epidermal disease | http://purl.obolibrary.org/obo/MONDO_0019268 | http://www.ebi.ac.uk/efo/EFO_0000701 |
ichthyosis | http://purl.obolibrary.org/obo/MONDO_0019269 | http://purl.obolibrary.org/obo/MONDO_0019268 |
acquired ichthyosis | http://purl.obolibrary.org/obo/MONDO_0018683 | http://purl.obolibrary.org/obo/MONDO_0019269 |
erythrokeratoderma | http://purl.obolibrary.org/obo/MONDO_0019270 | http://purl.obolibrary.org/obo/MONDO_0019268 |
erythrokeratoderma variabilis progressiva | http://purl.obolibrary.org/obo/MONDO_0017681 | http://purl.obolibrary.org/obo/MONDO_0019270 |
erythrokeratoderma en cocardes | http://purl.obolibrary.org/obo/MONDO_0017836 | http://purl.obolibrary.org/obo/MONDO_0019270 |
pityriasis rubra pilaris | http://purl.obolibrary.org/obo/MONDO_0100017 | http://purl.obolibrary.org/obo/MONDO_0019270 |
acrokeratoderma | http://purl.obolibrary.org/obo/MONDO_0019271 | http://purl.obolibrary.org/obo/MONDO_0019268 |
hyperkeratosis lenticularis perstans | http://purl.obolibrary.org/obo/MONDO_0007756 | http://purl.obolibrary.org/obo/MONDO_0019268 |
keratolytic winter erythema | http://purl.obolibrary.org/obo/MONDO_0007854 | http://purl.obolibrary.org/obo/MONDO_0019268 |
hereditary poikiloderma | http://purl.obolibrary.org/obo/MONDO_0016382 | http://purl.obolibrary.org/obo/MONDO_0019268 |
hereditary sclerosing poikiloderma, Weary type | http://purl.obolibrary.org/obo/MONDO_0008261 | http://purl.obolibrary.org/obo/MONDO_0016382 |
Hereditary acrokeratotic poikiloderma, Weary type | http://www.orpha.net/ORDO/Orphanet_2907 | http://purl.obolibrary.org/obo/MONDO_0016382 |
chloracne | http://www.ebi.ac.uk/efo/EFO_1001777 | http://www.ebi.ac.uk/efo/EFO_0000701 |
skin pigmentation disorder | http://purl.obolibrary.org/obo/MONDO_0019288 | http://www.ebi.ac.uk/efo/EFO_0000701 |
hypopigmentation of the skin | http://purl.obolibrary.org/obo/MONDO_0019290 | http://purl.obolibrary.org/obo/MONDO_0019288 |
piebald trait-neurologic defects syndrome | http://purl.obolibrary.org/obo/MONDO_0008245 | http://purl.obolibrary.org/obo/MONDO_0019290 |
hyperpigmentation of the skin | http://purl.obolibrary.org/obo/MONDO_0019289 | http://purl.obolibrary.org/obo/MONDO_0019288 |
familial progressive hyperpigmentation | http://purl.obolibrary.org/obo/MONDO_0013648 | http://purl.obolibrary.org/obo/MONDO_0019289 |
cafe au lait spots, multiple | http://purl.obolibrary.org/obo/MONDO_0007245 | http://purl.obolibrary.org/obo/MONDO_0019289 |
gastrocutaneous syndrome | http://purl.obolibrary.org/obo/MONDO_0007651 | http://purl.obolibrary.org/obo/MONDO_0019289 |
familial generalized lentiginosis | http://purl.obolibrary.org/obo/MONDO_0007891 | http://purl.obolibrary.org/obo/MONDO_0019289 |
hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome | http://purl.obolibrary.org/obo/MONDO_0016574 | http://purl.obolibrary.org/obo/MONDO_0019288 |
nephrogenic fibrosing dermopathy | http://www.ebi.ac.uk/efo/EFO_1001814 | http://www.ebi.ac.uk/efo/EFO_0000701 |
Livedo reticularis | http://www.ebi.ac.uk/efo/EFO_1001804 | http://www.ebi.ac.uk/efo/EFO_0000701 |
edema | http://www.ebi.ac.uk/efo/EFO_0009373 | http://www.ebi.ac.uk/efo/EFO_0000701 |
inflammatory skin disease | http://www.ebi.ac.uk/efo/EFO_1000636 | http://www.ebi.ac.uk/efo/EFO_0000701 |
skin sensitization | http://www.ebi.ac.uk/efo/EFO_0020984 | http://www.ebi.ac.uk/efo/EFO_1000636 |
Lymphedema | http://www.orpha.net/ORDO/Orphanet_79383 | http://www.ebi.ac.uk/efo/EFO_0000701 |
Syndromic lymphedema | http://www.orpha.net/ORDO/Orphanet_89832 | http://www.orpha.net/ORDO/Orphanet_79383 |
Lymphedema - atrial septal defects - facial changes | http://www.orpha.net/ORDO/Orphanet_86915 | http://www.orpha.net/ORDO/Orphanet_89832 |
Lymphedema - cerebral arteriovenous anomaly | http://www.orpha.net/ORDO/Orphanet_86914 | http://www.orpha.net/ORDO/Orphanet_89832 |
Müllerian derivatives - lymphangiectasia - polydactyly | http://www.orpha.net/ORDO/Orphanet_1655 | http://www.orpha.net/ORDO/Orphanet_89832 |
Hypotrichosis - lymphedema - telangiectasia | http://www.orpha.net/ORDO/Orphanet_69735 | http://www.orpha.net/ORDO/Orphanet_89832 |
lymphedema, hereditary, iii | http://www.ebi.ac.uk/efo/EFO_0009153 | http://www.orpha.net/ORDO/Orphanet_79383 |
Primary lymphedema | http://www.orpha.net/ORDO/Orphanet_77240 | http://www.orpha.net/ORDO/Orphanet_79383 |
Late-onset primary lymphedema | http://www.orpha.net/ORDO/Orphanet_289825 | http://www.orpha.net/ORDO/Orphanet_77240 |
Meige disease | http://www.orpha.net/ORDO/Orphanet_90186 | http://www.orpha.net/ORDO/Orphanet_289825 |
Non-hereditary late-onset primary lymphedema | http://www.orpha.net/ORDO/Orphanet_90185 | http://www.orpha.net/ORDO/Orphanet_289825 |
lichen disease | http://www.ebi.ac.uk/efo/EFO_1000724 | http://www.ebi.ac.uk/efo/EFO_0000701 |
lichen nitidus | http://www.ebi.ac.uk/efo/EFO_1000725 | http://www.ebi.ac.uk/efo/EFO_1000724 |
leg dermatosis | http://www.ebi.ac.uk/efo/EFO_1000723 | http://www.ebi.ac.uk/efo/EFO_0000701 |
mongolian spot | http://www.ebi.ac.uk/efo/EFO_1000736 | http://www.ebi.ac.uk/efo/EFO_0000701 |
reactive cutaneous fibrous lesion | http://www.ebi.ac.uk/efo/EFO_1000759 | http://www.ebi.ac.uk/efo/EFO_0000701 |
Keloid | http://www.ebi.ac.uk/efo/EFO_0004212 | http://www.ebi.ac.uk/efo/EFO_1000759 |
pigmentation disease | http://www.ebi.ac.uk/efo/EFO_1000755 | http://www.ebi.ac.uk/efo/EFO_0000701 |
neonatal jaundice | http://www.ebi.ac.uk/efo/EFO_1000739 | http://www.ebi.ac.uk/efo/EFO_1000755 |
rosacea | http://www.ebi.ac.uk/efo/EFO_1000760 | http://www.ebi.ac.uk/efo/EFO_0000701 |
scalp dermatosis | http://www.ebi.ac.uk/efo/EFO_1000761 | http://www.ebi.ac.uk/efo/EFO_0000701 |
skin atrophy | http://www.ebi.ac.uk/efo/EFO_1000766 | http://www.ebi.ac.uk/efo/EFO_0000701 |
vesiculobullous skin disease | http://www.ebi.ac.uk/efo/EFO_1000774 | http://www.ebi.ac.uk/efo/EFO_0000701 |
epidermolysis bullosa | http://www.ebi.ac.uk/efo/EFO_1000690 | http://www.ebi.ac.uk/efo/EFO_1000774 |
sweat gland disease | http://www.ebi.ac.uk/efo/EFO_1000772 | http://www.ebi.ac.uk/efo/EFO_0000701 |
apocrine sweat gland disease | http://www.ebi.ac.uk/efo/EFO_1002046 | http://www.ebi.ac.uk/efo/EFO_1000772 |
dyshidrosis | http://www.ebi.ac.uk/efo/EFO_1000688 | http://www.ebi.ac.uk/efo/EFO_1000772 |
fox fordyce disease | http://www.ebi.ac.uk/efo/EFO_1000703 | http://www.ebi.ac.uk/efo/EFO_1000772 |
hypohidrosis | http://www.ebi.ac.uk/efo/EFO_1000712 | http://www.ebi.ac.uk/efo/EFO_1000772 |
anhidrosis | http://www.ebi.ac.uk/efo/EFO_1000670 | http://www.ebi.ac.uk/efo/EFO_1000772 |
hand dermatosis | http://www.ebi.ac.uk/efo/EFO_1000706 | http://www.ebi.ac.uk/efo/EFO_0000701 |
facial dermatosis | http://www.ebi.ac.uk/efo/EFO_1000698 | http://www.ebi.ac.uk/efo/EFO_0000701 |
Dermatitis, Perioral | http://www.ebi.ac.uk/efo/EFO_1001305 | http://www.ebi.ac.uk/efo/EFO_1000698 |
exanthem | http://www.ebi.ac.uk/efo/EFO_1000697 | http://www.ebi.ac.uk/efo/EFO_0000701 |
prurigo | http://purl.obolibrary.org/obo/MONDO_0021739 | http://www.ebi.ac.uk/efo/EFO_1000697 |
viral exanthem | http://www.ebi.ac.uk/efo/EFO_1000776 | http://www.ebi.ac.uk/efo/EFO_1000697 |
erythema multiforme | http://www.ebi.ac.uk/efo/EFO_1000694 | http://www.ebi.ac.uk/efo/EFO_0000701 |
erythematosquamous dermatosis | http://www.ebi.ac.uk/efo/EFO_1000695 | http://www.ebi.ac.uk/efo/EFO_0000701 |
neonatal erythema toxicum | http://www.ebi.ac.uk/efo/EFO_0010687 | http://www.ebi.ac.uk/efo/EFO_0000701 |
prurigo nodularis | http://purl.obolibrary.org/obo/MONDO_0026045 | http://www.ebi.ac.uk/efo/EFO_0000701 |
Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome | http://www.ebi.ac.uk/efo/EFO_0009009 | http://www.ebi.ac.uk/efo/EFO_0000701 |
cutaneous mucinosis | http://purl.obolibrary.org/obo/MONDO_0002523 | http://www.ebi.ac.uk/efo/EFO_0000701 |
cutaneous focal mucinosis | http://purl.obolibrary.org/obo/MONDO_0021653 | http://purl.obolibrary.org/obo/MONDO_0002523 |
scleredema adultorum | http://www.ebi.ac.uk/efo/EFO_1000762 | http://purl.obolibrary.org/obo/MONDO_0002523 |
Bazex-Dupre-Christol syndrome | http://purl.obolibrary.org/obo/MONDO_0010535 | http://www.ebi.ac.uk/efo/EFO_0000701 |
follicular atrophoderma-basal cell carcinoma | http://purl.obolibrary.org/obo/MONDO_0019317 | http://purl.obolibrary.org/obo/MONDO_0010535 |
congenital lethal erythroderma | http://purl.obolibrary.org/obo/MONDO_0009198 | http://www.ebi.ac.uk/efo/EFO_0000701 |
skin reaction | http://www.ebi.ac.uk/efo/EFO_0020927 | http://www.ebi.ac.uk/efo/EFO_0000701 |
Hand-foot syndrome | http://www.ebi.ac.uk/efo/EFO_1001893 | http://www.ebi.ac.uk/efo/EFO_0000701 |
erythema palmare hereditarium | http://purl.obolibrary.org/obo/MONDO_0007570 | http://www.ebi.ac.uk/efo/EFO_0000701 |
perinatal disease | http://www.ebi.ac.uk/efo/EFO_0010238 | http://www.ebi.ac.uk/efo/EFO_0000408 |
iatrogenic disease | http://purl.obolibrary.org/obo/MONDO_0043543 | http://www.ebi.ac.uk/efo/EFO_0000408 |