ZFIN Human Disease: combined oxidative phosphorylation deficiency 47

OBO ID: DOID:0112114

Term Name:	combined oxidative phosphorylation deficiency 47		Search Ontology:
Synonyms:	COXPD47
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. https://pubmed.ncbi.nlm.nih.gov/30566640/
References:	OMIM:618958
Ontology:	Human Disease ( DOID:0112114 )

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 47 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
MRPS28	mrps28	?Combined oxidative phosphorylation deficiency 47	618958

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None