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
CLC5 300008
CLCK2 300008
CLCN5 300008
DENT DISEASE 1 300008
CHLORIDE CHANNEL 5 300008
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS 300008
NEPHROLITHIASIS, X-LINKED RECESSIVE 300008
CHLORIDE CHANNEL, VOLTAGE-GATED, K2 300008
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE 300008