ZFIN Human Disease: combined oxidative phosphorylation deficiency 40

OBO ID: DOID:0112117

Term Name:	combined oxidative phosphorylation deficiency 40		Search Ontology:
Synonyms:	COXPD40 QRSL1-related COXPD
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. https://pubmed.ncbi.nlm.nih.gov/26741492/
References:	OMIM:618835 ORDO:570491
Ontology:	Human Disease ( DOID:0112117 )

Relationships

is a type of:	autosomal recessive disease combined oxidative phosphorylation deficiency autosomal recessive disease combined oxidative phosphorylation deficiency Show first 5 Terms

OTHER combined oxidative phosphorylation deficiency 40 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
QRSL1	qrsl1	Combined oxidative phosphorylation deficiency 40	618835

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None