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
CASK 300172
CMG 300172
LIN2 300172
FG SYNDROME 4 300172
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA 300172
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH NYSTAGMUS 300172
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITHOUT NYSTAGMUS 300172
VERTEBRATE LIN2 HOMOLOG 300172
CAMGUK, DROSOPHILA, HOMOLOG OF 300172
CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE 300172