Autosomal dominant form of osteopetrosis (disease). [ MONDO:patterns/autosomal_dominant ]
Synonyms: autosomal dominant osteopetrosis (disease) OPTA osteopetrosis (disease), autosomal dominant
Term information
- OMIMPS:607634 (MONDO:equivalentTo)
- UMLS:C4272579 (MONDO:equivalentTo)
- MEDGEN:1378401 (MONDO:equivalentTo)
- NCIT:C129732 (MONDO:equivalentTo)
gard_rare, otar, rare
http://identifiers.org/medgen/1378401
https://omim.org/phenotypicSeries/PS607634
http://linkedlifedata.com/resource/umls/id/C4272579
http://purl.obolibrary.org/obo/NCIT_C129732