OBO ID: DOID:0080122
Term Name: Alpers-Huttenlocher syndrome Search Ontology:
  • Alpers disease
  • Alpers progressive infantile poliodystrophy
  • Alpers syndrome
  • Diffuse Cerebral Sclerosis of Schilder
  • mitochondrial DNA depletion syndrome 4a
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. (5)
  • GARD:5783
  • ICD10CM:G31.81
  • MESH:D002549
  • NCI:C35257
  • OMIM:203700
  • ORDO:726
  • SNOMEDCT_US_2022_03_01:20415001
  • UMLS_CUI:C0205710
Ontology: Human Disease   (DOID:0080122)
OTHER Alpers-Huttenlocher syndrome PAGES
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POLG Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available