ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 7

OBO ID: DOID:0112092

Term Name:	nuclear type mitochondrial complex I deficiency 7		Search Ontology:
Synonyms:	MC1DN7
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. https://pubmed.ncbi.nlm.nih.gov/12754703/
References:	OMIM:618229
Ontology:	Human Disease ( DOID:0112092 )

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 7 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFV2	ndufv2	Mitochondrial complex I deficiency, nuclear type 7	618229

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None