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DO Term : molybdenum cofactor deficiency type B [DOID:0111163] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11.

synonyms:
UMLS_CUI:C1854989,
combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B,
MESH:C565373,
MOCOD type B,
MOCODB,
molybdenum cofactor deficiency complementation group B,
SNOMEDCT_US_2023_03_01:1003368009,
252160,
ORDO:308393,
OMIM:252160

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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