Details of Disease | DrugMAP

General Information of Disease (ID: DISQ9TGT)

Disease Name	Isolated sulfite oxidase deficiency
Synonyms	sulfite oxidase deficiency; Sulfocysteinuria; sulfocysteinuria; isolated sulfite oxidase deficiency; ISOD; sulfite oxidase deficiency, isolated
Disease Hierarchy	DISAI4D0: Encephalopathy due to sulfite oxidase deficiency DISQ9TGT: Isolated sulfite oxidase deficiency
Disease Identifiers	MONDO ID MONDO_0010089 MESH ID C538141 UMLS CUI C0268624 OMIM ID 272300 MedGen ID 78695 HPO ID HP:0003643 Orphanet ID 99731 SNOMED CT ID 367368009

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
SUOX	OTEJQ9FC	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.