X-linked epilepsy with variable learning disabilities and behavior disorders Disease Ontology Browser

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Disease Ontology Browser

X-linked epilepsy with variable learning disabilities and behavior disorders (DOID:0112122)
Alliance: disease page
Synonyms: X-linked epilepsy-learning disabilities-behavior disorders syndrome
Alt IDs: OMIM:300491, MESH:C564505, ORDO:85294, UMLS_CUI:C1845343
Definition: 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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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