Details of Disease | DrugMAP

General Information of Disease (ID: DIS1LMIJ)

Disease Name	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Synonyms	molybdenum cofactor deficiency, complementation group B; molybdenum cofactor deficiency type B; combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B; molybdenum cofactor deficiency B; molybdenum cofactor deficiency complementation group B; molybdenum cofactor deficiency, complementation group type B; MOCODB; sulfite oxidase deficiency due to molybdenum cofactor deficiency type B; MOCOD type B
Disease Hierarchy	DISKS8QN: Molybdenum cofactor deficiency DIS1LMIJ: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Disease Identifiers	MONDO ID MONDO_0009644 MESH ID C565373 UMLS CUI C1854989 OMIM ID 252160 MedGen ID 340760 Orphanet ID 308393 SNOMED CT ID 1003368009

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
MOCS2	OTSPV7AX	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.