ZFIN Human Disease: combined oxidative phosphorylation deficiency 4

OBO ID: DOID:0111494

Term Name:	combined oxidative phosphorylation deficiency 4		Search Ontology:
Synonyms:	COXPD4
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. https://www.ncbi.nlm.nih.gov/pubmed/17160893
References:	MESH:C565690 OMIM:610678 ORDO:254925 SNOMEDCT_US_2023_03_01:766876004 UMLS_CUI:C1857682
Ontology:	Human Disease ( DOID:0111494 )

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 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TUFM	tufm	Combined oxidative phosphorylation deficiency 4	610678

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None