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
ABCB6 605452
MTABC3 605452
PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK 605452
LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE 605452
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 605452
MITOCHONDRIAL ABC PROTEIN 3 605452
ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 6 605452
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 605452