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DO Term : developmental and epileptic encephalopathy 88 [DOID:0112222] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.

synonyms:
DEE88,
618959,
early infantile epileptic encephalopathy 88,
OMIM:618959

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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