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
Porencephaly Orphanet_2940
MIC-CAP syndrome Orphanet_294016
MIC-CM syndrome Orphanet_294016
Rare nevus Orphanet_294057
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication Orphanet_294026
Syndactyly-nystagmus syndrome due to dup(2)(q31.1) Orphanet_294026
Syndactyly-nystagmus syndrome due to trisomy 2q31.1 Orphanet_294026
Microcephaly-cutaneous capillary malformation syndrome Orphanet_294016
Neonatal inflammatory skin and bowel disease Orphanet_294023
Microcephaly-capillary malformation syndrome Orphanet_294016
Multiple pterygium syndrome Orphanet_294060