OMIM Find_IDs Find_Terms Annotation
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created at 2024-09-23 05:55:30 UTC
updated at 2024-09-23 18:21:54 UTC
The OMIM entries, compiled in the following way.
1. The original entries were downloaded from BioPortal, on Sep. 23, 2024.
2. Only the original OMIM entries were extracted, which excluded the STY and MTHU entries.
Namespace for Semantic Web: http://purl.bioontology.org/ontology/OMIM/
Namespace for the OMIM web pages: https://www.omim.org/entry/
116,330 entries
Label
Id
ARCL2 219200
ARCL2A 219200
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA 219200
CUTIS LAXA, DEBRE TYPE 219200
CUTIS LAXA WITH BONE DYSTROPHY 219200
CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION 219200
CUTIS LAXA WITH GROWTH AND DEVELOPMENTAL DELAY 219200
CUTIS LAXA WITH JOINT LAXITY AND RETARDED DEVELOPMENT 219200