Epilepsy, Progressive Myoclonic 7

Preferred Label : Epilepsy, Progressive Myoclonic 7;

NCIt synonyms : EPM7;

NCIt definition : An autosomal dominant form of early progressive myoclonic epilepsy, caused by mutation(s) in the KCNC1 gene, encoding potassium voltage-gated channel subfamily C member 1.;

Details

Origin ID

C142804;

UMLS CUI

C4015420;

Currated CISMeF NLP mapping
- Epilepsy, progressive myoclonic 7 [OMIM Phenotype]
- Progressive myoclonic epilepsy type 7 [ORDO Disease]
- Progressive myoclonic epilepsy type 7 (disorder) [SNOMED CT concept]
- progressive myoclonus epilepsy 7 [DO Concept]
DO Cross reference
- progressive myoclonus epilepsy 7 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy, progressive myoclonic 7 [OMIM Phenotype]
- Progressive myoclonic epilepsy type 7 [ORDO Disease]
- Progressive myoclonic epilepsy type 7 (disorder) [SNOMED CT concept]
- progressive myoclonus epilepsy 7 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- KCNC1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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