ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 31

OBO ID: DOID:0112071

Term Name:	nuclear type mitochondrial complex I deficiency 31		Search Ontology:
Synonyms:	MC1DN31
Definition:	A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. https://pubmed.ncbi.nlm.nih.gov/28604674/
References:	OMIM:618251
Ontology:	Human Disease ( DOID:0112071 )

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 31 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TIMMDC1	timmdc1	Mitochondrial complex I deficiency, nuclear type 31	618251

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None