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General Information
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| Term |
hypermethioninemia due to adenosine kinase deficiency |
ID (Ontology) |
DOID:0111038 (Human Disease) |
| Definition |
A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. |
| Also Known As |
"ADK hypermethioninemia" ; "autosomal recessive mental retardation 8" ; "hypermethioninemia encephalopathy due to adenosine kinase deficiency" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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hypermethioninemia due to adenosine kinase deficiency | 3 | for disease ribbon | hypermethioninemia due to adenosine kinase deficiency | 3 | model of | hypermethioninemia due to adenosine kinase deficiency | 3 |
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Relationships