ZFIN Human Disease: combined oxidative phosphorylation deficiency 21

OBO ID: DOID:0111465

Term Name:	combined oxidative phosphorylation deficiency 21		Search Ontology:
Synonyms:	COXPD21
Definition:	A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. https://www.ncbi.nlm.nih.gov/pubmed/24827421
References:	OMIM:615918 ORDO:420733
Ontology:	Human Disease ( DOID:0111465 )

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 21 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TARS2	tars2	Combined oxidative phosphorylation deficiency 21	615918

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None