Homocystinuria-Megaloblastic Anemia Cble Type
Disease ID: disease_node_20520
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| Dbxref | MIM:236270, ORDO:2169 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | HMAE, functional methionine synthase deficiency type cblE, homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type, methylcobalamin deficiency, cblE type, vitamin B12-responsive homocystinuria, cblE type |
| Doid Label | homocystinuria-megaloblastic anemia cblE type |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20520 |
| Doid Id | DOID_0112255 |
| Label | Homocystinuria-Megaloblastic Anemia Cble Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)