ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 33

OBO ID: DOID:0112097

Term Name:	nuclear type mitochondrial complex I deficiency 33		Search Ontology:
Synonyms:	MC1DN33
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. https://pubmed.ncbi.nlm.nih.gov/30245030/
References:	OMIM:618253
Ontology:	Human Disease ( DOID:0112097 )

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 33 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFA6	ndufa6	Mitochondrial complex I deficiency, nuclear type 33	618253

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None