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
CATF1 600502
IGHMBP2 600502
SMUBP2 600502
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 600502
CARDIAC TRANSCRIPTION FACTOR 1 600502
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 600502
IMMUNOGLOBULIN MU-BINDING PROTEIN 2 600502