ZFIN Human Disease: nuclear type mitochondrial complex I deficiency 20

OBO ID: DOID:0112072

Term Name:	nuclear type mitochondrial complex I deficiency 20		Search Ontology:
Synonyms:	ACAD9 deficiency Acyl-CoA dehydrogenase 9 deficiency MC1DN20 mitochondrial complex 1 deficiency due to ACAD9 deficiency
Definition:	A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. (3)
References:	MESH:C567006 OMIM:611126 ORDO:99901 SNOMEDCT_US_2023_03_01:725046003 UMLS_CUI:C1970173
Ontology:	Human Disease ( DOID:0112072 )

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 20 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ACAD9	acad9	Mitochondrial complex I deficiency, nuclear type 20	611126

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None