Homocystinuria-Megaloblastic Anemia Cblg Type
Disease ID: disease_node_20519
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| Dbxref | GARD:3577, MIM:250940, ORDO:2170 |
|---|---|
| Subclassof | DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | HMAG, homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type, homocystinuria-megaloblastic anemia, cblG complementation type, methylcobalamin deficiency, cblG type |
| Doid Label | homocystinuria-megaloblastic anemia cblG type |
| Doid Description | An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, 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 MTR on chromosome 1q43. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20519 |
| Doid Id | DOID_0112256 |
| Label | Homocystinuria-Megaloblastic Anemia Cblg Type |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)