Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia

Preferred Label : Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia;

MeSH synonym : progressive myoclonus epilepsy with ataxia; progressive myoclonic epilepsy 1b; Epm1b; pme with ataxia; Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia; Epilepsy, Progressive Myoclonic, 1b;

Is substance : O;

Details

Origin ID

C580388;

UMLS CUI

C2676254;

Automatic exact mappings (from CISMeF team)
- Epilepsy, progressive myoclonic, 1b [OMIM Phenotype]
- PRICKLE1 wt Allele [NCIt concept]
- Progressive myoclonus epilepsy with ataxia (disorder) [SNOMED CT concept]
- prickle planar cell polarity protein 1 [ORDO Gene]
- progressive myoclonus epilepsy 1B [DO Concept]
MeSH term(s) associated for indexing
- myoclonic epilepsies, progressive [MeSH Descriptor]
Record concept(s)
- Prickle1-Related Progressive Myoclonic Epilepsy with Ataxia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy, progressive myoclonic, 1b [OMIM Phenotype]
- Progressive epilepsy and/or ataxia with myoclonus as a major feature [ORDO Disease]
- Progressive myoclonus epilepsy with ataxia (disorder) [SNOMED CT concept]

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