Details of Disease | DrugMAP

General Information of Disease (ID: DISMO1Q1)

Disease Name	Optic atrophy 13 with retinal and foveal abnormalities
Synonyms	optic atrophy 13 with retinal and foveal abnormalities; optic atrophy with negative Electroretinograms
Disease Hierarchy	DISCV4E4: Hereditary optic atrophy DISMO1Q1: Optic atrophy 13 with retinal and foveal abnormalities
Disease Identifiers	MONDO ID MONDO_0008135 UMLS CUI C5435585 OMIM ID 165510 MedGen ID 1768962

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
SSBP1	OTH2PZWH	Strong	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.