ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 34

OBO ID: DOID:0112091

Term Name:	nuclear type mitochondrial complex I deficiency 34		Search Ontology:
Synonyms:	MC1DN34
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. https://pubmed.ncbi.nlm.nih.gov/31866046/
References:	OMIM:618776
Ontology:	Human Disease ( DOID:0112091 )

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 34 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFAF8	ndufaf8	Mitochondrial complex I deficiency, nuclear type 34	618776

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None