Methylmalonic Acidemia And Homocysteinemia Cblx Type
Disease ID: disease_node_19202
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| Dbxref | MIM:309541, ORDO:369962 |
|---|---|
| Subclassof | DOID_0080012, DOID_14749 |
| Data Source | DOID |
| Synonyms | combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX, mental retardation, X-linked 3, methylmalonic aciduria with homocystinuria, type cblX |
| Doid Label | methylmalonic acidemia and homocysteinemia cblX type |
| Doid Description | A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_19202 |
| Doid Id | DOID_0111814 |
| Label | Methylmalonic Acidemia And Homocysteinemia Cblx Type |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)