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
AML3 600211
CBFA1 600211
OSF2 600211
PEBP2-ALPHA-A 600211
RUNX2 600211
AML3 GENE 600211
CLEIDOCRANIAL DYSPLASIA 1 600211
CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE 600211
CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, DENTAL ANOMALIES ONLY 600211
CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, WITH BRACHYDACTYLY 600211
CLEIDOCRANIAL DYSPLASIA 1, SEVERE, WITH OSTEOPOROSIS AND SCOLIOSIS 600211
METAPHYSEAL DYSPLASIA AND MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY 600211
RUNT-RELATED TRANSCRIPTION FACTOR 2 600211
CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 1 600211