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
ASAH 613468
ASAH1 613468
ACDase 613468
AC 613468
ACID CDase 613468
ACID CERAMIDASE 613468
FARBER LIPOGRANULOMATOSIS 613468
N-ACYLSPHINGOSINE DEACYLASE 613468
N-ACYLSPHINGOSINE AMIDOHYDROLASE 1 613468
SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY 613468