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
BDMF 112250
DMSMFH 112250
DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA 112250
MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY 112250
BONE DYSPLASIA WITH MALIGNANT FIBROUS HISTIOCYTOMA 112250
BONE DYSPLASIA WITH MEDULLARY FIBROSARCOMA 112250