ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 5

OBO ID: DOID:0112068

Term Name:	nuclear type mitochondrial complex I deficiency 5		Search Ontology:
Synonyms:	MC1DN5
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. https://pubmed.ncbi.nlm.nih.gov/11349233/
References:	OMIM:618226
Ontology:	Human Disease ( DOID:0112068 )

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 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFS1	ndufs1	Mitochondrial complex I deficiency, nuclear type 5	618226

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None