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
CDPR 215100
PBD9 215100
RCDP1 215100
PEROXISOME BIOGENESIS DISORDER 9 215100
CHONDRODYSTROPHIA CALCIFICANS PUNCTATA 215100
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 215100
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC FORM 215100