ORDO Find_IDs Find_Terms Annotation
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created at 2024-09-23 16:23:50 UTC
updated at 2024-09-23 18:22:39 UTC
Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
20,514 entries
Label
Id
Osteonecrosis of the jaw Orphanet_399293
Adenocarcinoma of the penis Orphanet_398053
Epiphysiolysis of the upper femur Orphanet_399329
Homocystinuria due to CBS deficiency Orphanet_394
Obesity due to CEP19 deficiency Orphanet_397615
SCID due to IKK2 deficiency Orphanet_397787
Homocystinuria due to cystathionine beta-synthase deficiency Orphanet_394
Malignant penile tumor Orphanet_398043
Malignant epithelial tumor of ovary Orphanet_398934
Malignant non-epithelial tumor of ovary Orphanet_398940
MADD, mild type Orphanet_394532
Frontonasal dysplasia type 1 Orphanet_391474
Brunner-Winter syndrome type 1 Orphanet_391641
Feingold syndrome type 1 Orphanet_391641
MODED syndrome type 1 Orphanet_391641