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DO Term : progressive myoclonus epilepsy 7 [DOID:0111447] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1.

synonyms:
Progressive myoclonic epilepsy due to KV3.1 deficiency,
ORDO:435438,
NCI:C142804,
UMLS_CUI:C4015420,
Progressive myoclonus epilepsy type 7,
EPM7,
616187,
PME type 7,
Myoclonus epilepsy and ataxia due to potassium channel mutation,
OMIM:616187,
SNOMEDCT_US_2023_03_01:1208939001,
MEAK

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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