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DOID:0080122 - Alpers-Huttenlocher syndrome
Disease Ontology Definition:A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26.
Synonyms: Alper's syndrome, Alpers disease, Alpers progressive infantile poliodystrophy, Alpers syndrome, Alpers' disease or gray-matter degeneration, Diffuse Cerebral Sclerosis of Schilder, mitochondrial DNA depletion syndrome 4a, progressive sclerosing poliodystrophy
Echinobase Genes
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| MIM:203700 - mitochondrial dna depletion syndrome 4a (alpers type); mtdps4a |
Other Model Organisms: Alliance, 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)