ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 23

OBO ID: DOID:0112087

Term Name:	nuclear type mitochondrial complex I deficiency 23		Search Ontology:
Synonyms:	MC1DN23
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. https://pubmed.ncbi.nlm.nih.gov/21617257/
References:	OMIM:618244
Ontology:	Human Disease ( DOID:0112087 )

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 23 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFA12	ndufa12	Mitochondrial complex I deficiency, nuclear type 23	618244

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None