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DO Term : progressive myoclonus epilepsy 1A [DOID:0111452] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.

synonyms:
254800,
OMIM:254800,
EPM1A

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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