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| Term | Alpers-Huttenlocher syndrome | ID (Ontology) | DOID:0080122 (Human Disease) |
| 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 (POLG) on chromosome 15q26. | ||
| Also Known As | "Alper's syndrome" ; "Alpers disease" ; "Alpers progressive infantile poliodystrophy" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease___________ mitochondrial metabolism disease | |__mitochondrial DNA depletion syndrome__| Alpers-Huttenlocher syndrome 6 rec. |
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autosomal recessive disease mitochondrial DNA depletion syndrome |
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GARD:5783 ICD10CM:G31.81 MESH:D002549 MIM:203700 NCI:C35257 ORDO:726 SNOMEDCT_US_2023_03_01:20415001 UMLS_CUI:C0205710 |
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