ZFIN Human Disease: combined oxidative phosphorylation deficiency 38

OBO ID: DOID:0111466

Term Name:	combined oxidative phosphorylation deficiency 38		Search Ontology:
Synonyms:	COXPD38
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. https://www.ncbi.nlm.nih.gov/pubmed/30358850
References:	OMIM:618378
Ontology:	Human Disease ( DOID:0111466 )

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 38 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MRPS14	mrps14	?Combined oxidative phosphorylation deficiency 38	618378

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None