|
DOID:0080128 - mitochondrial DNA depletion syndrome 9
Disease Ontology Definition:A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11.
Synonyms: fatal infantile lactic acidosis,
Xenbase Genes
:
suclg1
| MONDO:0009504 - mitochondrial DNA depletion syndrome 9 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
mitochondrial DNA depletion syndrome (is_a),
mitochondrial metabolism disease (is_a)