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General Information
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| Term |
homocystinuria-megaloblastic anemia cblE type |
ID (Ontology) |
DOID:0112255 (Human Disease) |
| Definition |
An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. |
| Also Known As |
"functional methionine synthase deficiency type cblE" ; "HMAE" ; "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type" (for all, see Synonyms field below) |
| 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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homocystinuria-megaloblastic anemia cblE type | 1 | for disease ribbon | homocystinuria-megaloblastic anemia cblE type | 1 | model of | homocystinuria-megaloblastic anemia cblE type | 1 |
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Relationships