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DO Term : methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency [DOID:0060740] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.

synonyms:
ORDO:27,
vitamin B12-unresponsive methylmalonic aciduria,
251000,
OMIM:251000,
methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency,
MESH:C565390,
ICD10CM:E71.1,
methylmalonic aciduria mut 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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