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DO Term : 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [DOID:0110001] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.

synonyms:
614739,
ORDO:352328,
MGCA6,
3-methylglutaconic aciduria type 6,
MEGDEL syndrome,
OMIM:614739,
MEGDEL

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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