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General Information
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| Term |
methylmalonic acidemia and homocysteinemia cblX type |
ID (Ontology) |
DOID:0111814 (Human Disease) |
| 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. |
| Also Known As |
"combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" ; "mental retardation, X-linked 3" ; "methylmalonic aciduria with homocystinuria, type cblX" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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methylmalonic acidemia and homocysteinemia cblX type | 1 | for disease ribbon | methylmalonic acidemia and homocysteinemia cblX type | 1 | model of | methylmalonic acidemia and homocysteinemia cblX type | 1 |
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Relationships