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
TRIANGLE disease Orphanet_444463
Hypotrichosis, Marie Unna type Orphanet_444
Idiopathic phalangeal acro-osteolysis Orphanet_444316
Idiopathic phalangeal acroosteolysis Orphanet_444316
Evans syndrome associated with primary immunodeficiency Orphanet_444463
Marie Unna congenital hypotrichosis Orphanet_444
46,XX ovarian dysgenesis-short stature syndrome Orphanet_444048
Marie Unna hereditary hypotrichosis Orphanet_444
Autoimmune interstitial lung disease-arthritis syndrome Orphanet_444092
Combined oxidative phosphorylation defect type 23 Orphanet_444013
Combined oxidative phosphorylation defect type 24 Orphanet_444458
Autosomal dominant spastic paraplegia type 73 Orphanet_444099
Caudal regression-sirenomelia spectrum Orphanet_444941
11q22.2q22.3 microdeletion syndrome Orphanet_444002
20q11.2 microdeletion syndrome Orphanet_444051