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General Information
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| Term |
hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
ID (Ontology) |
DOID:0111039 (Human Disease) |
| Definition |
A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. |
| Also Known As |
"hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" ; "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" |
| Comment |
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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 with deficiency of S-adenosylhomocysteine hydrolase | 1 | for disease ribbon | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 1 | model of | hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 1 |
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Relationships