molybdenum cofactor deficiency type A

Summary

DOID:0111164 - molybdenum cofactor deficiency type A

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

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mocs2, gphn, mocs1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009643 - sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

MONDO:0009643 - sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): molybdenum cofactor deficiency (is_a)