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Human Disease
methylmalonic acidemia cblB type
- Term ID
- DOID:0060743
- Synonyms
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- methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
- Definition
- A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. (2)
- References
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- ICD10CM:E71.1
- MIM:251110
- ORDO:79311
- Ontology
- Human Disease ( DOID:0060743 )
- is a type of
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