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DO Term : familial adult myoclonic epilepsy 1 [DOID:0111690] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12.

synonyms:
familial cortical myoclonic tremor and epilepsy 1,
FAME1,
FCMTE1,
601068,
benign adult familial myoclonic epilepsy 1,
OMIM:601068,
BAFME1

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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