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DO Term : Alpers-Huttenlocher syndrome [DOID:0080122] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • SNOMEDCT_US_2023_03_01:20415001,
  • UMLS_CUI:C0205710,
  • NCI:C35257,
  • GARD:5783,
  • ICD10CM:G31.81,
  • Alpers' disease or gray-matter degeneration,
  • Diffuse Cerebral Sclerosis of Schilder,
  • MESH:D002549,
  • Alpers progressive infantile poliodystrophy,
  • OMIM:203700,
  • 203700,
  • Alper's syndrome,
  • Alpers syndrome,
  • progressive sclerosing poliodystrophy,
  • mitochondrial DNA depletion syndrome 4a,
  • ORDO:726,
  • Alpers disease,
  • DOID:1442
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Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents