Details of Disease | DrugMAP

General Information of Disease (ID: DISRBVO7)

Disease Name	Osteopetrosis, autosomal dominant 3
Synonyms	OSTEOPETROSIS, autosomal dominant 3; OPTA3
Disease Hierarchy	DISS69AL: Autosomal dominant osteopetrosis DISRBVO7: Osteopetrosis, autosomal dominant 3
Disease Identifiers	MONDO ID MONDO_0020848 UMLS CUI C4748197 OMIM ID 618107 MedGen ID 1648454

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLEKHM1	OT1SLPGD	Limited	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.