ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 15

OBO ID: DOID:0112077

Term Name:	nuclear type mitochondrial complex I deficiency 15		Search Ontology:
Synonyms:	MC1DN15
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. https://pubmed.ncbi.nlm.nih.gov/18179882/
References:	OMIM:618237
Ontology:	Human Disease ( DOID:0112077 )

Relationships

is a type of:	autosomal recessive disease nuclear type mitochondrial complex I deficiency autosomal recessive disease nuclear type mitochondrial complex I deficiency Show first 5 Terms

OTHER nuclear type mitochondrial complex I deficiency 15 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFAF4	ndufaf4	Mitochondrial complex I deficiency, nuclear type 15	618237

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None