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Disease Ontology Browser
Alpers-Huttenlocher syndrome (DOID:0080122)
Alliance: disease page
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
Alt IDs: OMIM:203700, ICD10CM:G31.81, MESH:D002549, NCI:C35257, ORDO:726, UMLS_CUI:C0205710
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory