ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 1

OBO ID: DOID:0112074

Term Name:	nuclear type mitochondrial complex I deficiency 1		Search Ontology:
Synonyms:	MC1DN1
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. (2)
References:	OMIM:252010
Ontology:	Human Disease ( DOID:0112074 )

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 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFS4	ndufs4	Mitochondrial complex I deficiency, nuclear type 1	252010

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None