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
Autosomal recessive limb-girdle muscular dystrophy type 2J Orphanet_140922
Bilateral microtia-hearing loss-cleft palate syndrome Orphanet_140963
Autosomal dominant macrothrombocytopenia Orphanet_140957
Osseous venous malformation Orphanet_140436
Titin-related limb-girdle muscular dystrophy R10 Orphanet_140922
Benign familial neonatal-infantile seizures Orphanet_140927
Primary central nervous system vasculitis Orphanet_140989
Ectodermal dysplasia-acanthosis nigricans syndrome Orphanet_140936
Linear atrophoderma of Moulin Orphanet_140933
Isolated angiitis of the central nervous system Orphanet_140989
Primary angiitis of the central nervous system Orphanet_140989
Primary vasculitis of the central nervous system Orphanet_140989
Bilateral microtia-deafness-cleft palate syndrome Orphanet_140963
Severe acute respiratory syndrome Orphanet_140896
Autosomal dominant slowed nerve conduction velocity Orphanet_140481