ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 18

OBO ID: DOID:0112070

Term Name:	nuclear type mitochondrial complex I deficiency 18		Search Ontology:
Synonyms:	MC1DN18
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. https://pubmed.ncbi.nlm.nih.gov/19463981/
References:	OMIM:618240
Ontology:	Human Disease ( DOID:0112070 )

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 18 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFAF3	ndufaf3	Mitochondrial complex I deficiency, nuclear type 18	618240

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None