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Summary Literature (0)
DOID:0111163 - molybdenum cofactor deficiency type B

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

Synonyms: combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B, MOCODB, MOCOD type B, molybdenum cofactor deficiency complementation group B

Xenbase Genes : mocs2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009644 - sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

MIM:
MIM:252160 - MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): genetic disease (is_a), molybdenum cofactor deficiency (is_a)