ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 4

OBO ID: DOID:0112082

Term Name:	nuclear type mitochondrial complex I deficiency 4		Search Ontology:
Synonyms:	MC1DN4
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. https://pubmed.ncbi.nlm.nih.gov/10080174/
References:	OMIM:618225
Ontology:	Human Disease ( DOID:0112082 )

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 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFV1	ndufv1	Mitochondrial complex I deficiency, nuclear type 4	618225

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None