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
ATIC 601731
AICARFT/IMPCHASE 601731
AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE 601731
PURH 601731
5-AMINOIMIDAZOLE-4-CARBOXAMIDE RIBONUCLEOTIDE FORMYLTRANSFERASE/IMP CYCLOHYDROLASE 601731
AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY 601731