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DO Term : methylmalonic acidemia cblA type [DOID:0060742] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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 MMAA gene on chromosome 4q31.

synonyms:
methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type,
ORDO:79310,
OMIM:251100,
251100,
ICD10CM:E71.1,
methylmalonic aciduria cblA type

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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