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
BPNH 300049
NHBP 300049
PVNH1 300049
HETEROTOPIA, FAMILIAL NODULAR 300049
NODULAR HETEROTOPIA, BILATERAL PERIVENTRICULAR 300049
PVNH4, FORMERLY 300049
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT 300049
PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049
PERIVENTRICULAR NODULAR HETEROTOPIA 4, FORMERLY 300049
HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA 300049
HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT 300049