ZFIN Human Disease: molybdenum cofactor deficiency

OBO ID: DOID:0111165

Term Name:	molybdenum cofactor deficiency		Search Ontology:
Synonyms:	combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase MOCOD
Definition:	A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. (3)
References:	GARD:3705 ICD10CM:E72.1 MESH:C535811 OMIM:PS252150 ORDO:99732
Ontology:	Human Disease ( DOID:0111165 )

Relationships

is a type of:	metal metabolism disorder metal metabolism disorder Show first 5 Terms
has subtype:	molybdenum cofactor deficiency type A molybdenum cofactor deficiency type B molybdenum cofactor deficiency type C molybdenum cofactor deficiency type A molybdenum cofactor deficiency type B molybdenum cofactor deficiency type C Show first 5 Terms

OTHER molybdenum cofactor deficiency PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB	chemical treatment by environment: S-sulfo-L-cysteine	Plate et al., 2019

PHENOTYPE No data available

CITATIONS (1)