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
Limb-girdle muscular dystrophy type 2D Orphanet_62
Autoimmune limbic encephalitis Orphanet_623615
Non-syndromic unilateral frontosphenoidal suture synostosis Orphanet_620139
Giant pigmented hairy nevus Orphanet_626
EGF-related primary hypomagnesemia with intellectual disability Orphanet_620368
Body integrity identity disorder Orphanet_623789
Non-syndromic unilateral lambdoid synostosis Orphanet_620113
Non-syndromic bilateral lambdoid synostosis Orphanet_620178
Autosomal recessive limb-girdle muscular dystrophy type 2D Orphanet_62
Giant congenital melanocytic nevus Orphanet_626
Large congenital melanocytic nevus Orphanet_626
Autosomal recessive methemoglobinemia Orphanet_621
Homocystinuria without methylmalonic aciduria Orphanet_622
Non-syndromic non-specific multiple suture synostosis Orphanet_620158
Isolated non-specific multisutural craniosynostosis Orphanet_620158