ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 8

OBO ID: DOID:0112081

Term Name:	nuclear type mitochondrial complex I deficiency 8		Search Ontology:
Synonyms:	MC1DN8
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. https://pubmed.ncbi.nlm.nih.gov/14729820/
References:	OMIM:618230
Ontology:	Human Disease ( DOID:0112081 )

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 8 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFS3	ndufs3	Mitochondrial complex I deficiency, nuclear type 8	618230

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None