ZFIN Human Disease: combined oxidative phosphorylation deficiency 5

OBO ID: DOID:0111473

Term Name:	combined oxidative phosphorylation deficiency 5		Search Ontology:
Synonyms:	COXPD5 hypotonia with lactic acidemia and hyperammonemia
Definition:	A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. (2)
References:	MESH:C567126 OMIM:611719 ORDO:137908
Ontology:	Human Disease ( DOID:0111473 )

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 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MRPS22	mrps22	Combined oxidative phosphorylation deficiency 5	611719

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None