ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 32

OBO ID: DOID:0112080

Term Name:	nuclear type mitochondrial complex I deficiency 32		Search Ontology:
Synonyms:	MC1DN32
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. https://pubmed.ncbi.nlm.nih.gov/29429571/
References:	OMIM:618252
Ontology:	Human Disease ( DOID:0112080 )

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 32 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFB8	ndufb8	Mitochondrial complex I deficiency, nuclear type 32	618252

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None