OMIM Find_IDs Find_Terms Annotation
manager
language -
license -
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
BRAT1 614506
BAAT1 614506
C7ORF27 614506
BRCA1-ASSOCIATED ATM ACTIVATOR 1 614506
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 614506
CHROMOSOME 7 OPEN READING FRAME 27 614506
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY 614506
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND SEIZURES 614506
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 614506