ZFIN Human Disease: combined oxidative phosphorylation deficiency 48

OBO ID: DOID:0112112

Term Name:	combined oxidative phosphorylation deficiency 48		Search Ontology:
Synonyms:	COXPD48
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. https://pubmed.ncbi.nlm.nih.gov/27356879/
References:	OMIM:619012
Ontology:	Human Disease ( DOID:0112112 )

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 48 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NSUN3	nsun3	Combined oxidative phosphorylation deficiency 48	619012

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None