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
AMCX1 301830
SMAX2 301830
XLSMA 301830
SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED 301830
SPINAL MUSCULAR ATROPHY, X-LINKED 2 301830
SPINAL MUSCULAR ATROPHY, X-LINKED LETHAL INFANTILE 301830
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, X-LINKED 301830
ARTHROGRYPOSIS, X-LINKED, TYPE I 301830
AMC, DISTAL, X-LINKED 301830