ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 13

OBO ID: DOID:0112076

Term Name:	nuclear type mitochondrial complex I deficiency 13		Search Ontology:
Synonyms:	MC1DN13
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. https://pubmed.ncbi.nlm.nih.gov/18513682/
References:	OMIM:618235
Ontology:	Human Disease ( DOID:0112076 )

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 13 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFA2	ndufa2	Mitochondrial complex I deficiency, nuclear type 13	618235

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None