WormBase Tree Display for DO_term: DOID:0111814
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| DOID:0111814 | Name | methylmalonic acidemia and homocysteinemia cblX type | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Synonym | Exact | combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX | |||
| mental retardation, X-linked 3 | |||||
| methylmalonic aciduria with homocystinuria, type cblX | |||||
| Parent | Is_a | DOID:14749 | |||
| DOID:0080012 | |||||
| DB_info | Database | OMIM | disease | 309541 | |
| Attribute_of | Gene_by_orthology | WBGene00001827 |
