OMIM Find_IDs Find_Terms Annotation
manager
language -
license -
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
ARCMT2B 605589
CMT2B2 605589
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2 605589
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 605589
CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B2 605589
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2B2 605589