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DO Term : molybdenum cofactor deficiency type A [DOID:0111164] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21.

synonyms:
UMLS_CUI:C1854988,
SNOMEDCT_US_2023_03_01:1003367004,
ORDO:308386,
MOCODA,
MESH:C565372,
252150,
molybdenum cofactor deficiency complementation group A,
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A,
OMIM:252150,
MOCOD type A

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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