ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 16

OBO ID: DOID:0112096

Term Name:	nuclear type mitochondrial complex I deficiency 16		Search Ontology:
Synonyms:	MC1DN16
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. https://pubmed.ncbi.nlm.nih.gov/18940309/
References:	OMIM:618238
Ontology:	Human Disease ( DOID:0112096 )

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 16 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFAF5	ndufaf5	Mitochondrial complex I deficiency, nuclear type 16	618238

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None