disease

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, Rodríguez 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
Powered by
(v.1.15.0-main)
Copyright © 2008 - 2024 The University of Manchester and HITS gGmbH