Details of Disease

General Information of Disease (ID: DISQG1OS)

Disease Name 3-methylglutaconic aciduria type 8
Synonyms
3-methylglutaconic aciduria type VIII; 3-Methylglutaconic aciduria, type 8; 3-methylglutaconic aciduria, type VIII; MGCA8; 3-methylglutaconic aciduria type VIII, MGCA8; MGA8; MGCA8; 3-methylglutaconic aciduria, type VIII
Disease Hierarchy
DIS8G1WP: 3-methylglutaconic aciduria
DISQG1OS: 3-methylglutaconic aciduria type 8
Disease Identifiers
MONDO ID
MONDO_0044723
UMLS CUI
C4310650
OMIM ID
617248
MedGen ID
934617
Orphanet ID
505208

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
HTRA2 OTC7616F Definitive Autosomal recessive [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.