ZFIN Human Disease: combined oxidative phosphorylation deficiency 37

OBO ID: DOID:0111499

Term Name:	combined oxidative phosphorylation deficiency 37		Search Ontology:
Synonyms:	COXPD37
Definition:	A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. https://www.ncbi.nlm.nih.gov/pubmed/27485409
References:	OMIM:618329
Ontology:	Human Disease ( DOID:0111499 )

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 37 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
C19orf70	micos13	Combined oxidative phosphorylation deficiency 37	618329

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None