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
C1GALT1C1 300611
C1GALT2 300611
COSMC 300611
C1GALT1-SPECIFIC CHAPERONE 1 300611
CORE 1 BETA-3-GALACTOSYLTRANSFERASE-SPECIFIC MOLECULAR CHAPERONE 300611
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE 300611
TN POLYAGGLUTINATION SYNDROME, SOMATIC 300611