ZFIN Human Disease: combined oxidative phosphorylation deficiency 29

OBO ID: DOID:0111501

Term Name:	combined oxidative phosphorylation deficiency 29		Search Ontology:
Synonyms:	COXPD29
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. https://www.ncbi.nlm.nih.gov/pubmed/26626369
References:	OMIM:616811
Ontology:	Human Disease ( DOID:0111501 )

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 29 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TXN2	txn2	?Combined oxidative phosphorylation deficiency 29	616811

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None