OBO ID: DOID:0112255 |
Term Name: | homocystinuria-megaloblastic anemia cblE type | Search Ontology: | |
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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. https://pubmed.ncbi.nlm.nih.gov/3384945/ | ||
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Ontology: | Human Disease ( DOID:0112255 ) |
OTHER homocystinuria-megaloblastic anemia cblE type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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