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
BDK 614901
BCKDK 614901
BCKD KINASE 614901
BCKDH KINASE 614901
BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE KINASE 614901
BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE KINASE DEFICIENCY 614901