ZFIN Human Disease: combined oxidative phosphorylation deficiency 28

OBO ID: DOID:0111470

Term Name:	combined oxidative phosphorylation deficiency 28		Search Ontology:
Synonyms:	COXPD28 neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. https://www.ncbi.nlm.nih.gov/pubmed/27132592
References:	OMIM:616794 ORDO:466784
Ontology:	Human Disease ( DOID:0111470 )

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 28 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SLC25A26	slc25a26	Combined oxidative phosphorylation deficiency 28	616794

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None