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DO Term : X-linked epilepsy with variable learning disabilities and behavior disorders [DOID:0112122] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2.

synonyms:
ORDO:85294,
MESH:C564505,
OMIM:300491,
300491,
UMLS_CUI:C1845343,
X-linked epilepsy-learning disabilities-behavior disorders syndrome

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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