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
ASM 607608
SMPD1 607608
SPHINGOMYELINASE, ACID 607608
SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL 607608
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL 607608
NIEMANN-PICK DISEASE, TYPE A 607608
NIEMANN-PICK DISEASE, TYPE B 607608