OBO ID: DOID:0080122 |
Term Name: | Alpers-Huttenlocher syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0080122 ) |
OTHER Alpers-Huttenlocher syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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