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Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C (MONDO:0014212)

A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.

Overview

Category

Ontology ID

Internal:15218

Synonyms

MOCOD type C

MOCODC

combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C

molybdenum cofactor deficiency C

molybdenum cofactor deficiency, complementation group type C

molybdenum cofactor deficiency type C

molybdenum cofactor deficiency, complementation group C

Mapped terms

DOID:0111166

GARD:0017388

MEDGEN:340761

MESH:C565374

OMIM:615501

Orphanet:308400

PMID:11095995

UMLS:C1854990

Child terms

Unknown children.