Epilepsy, progressive myoclonic, 9

Preferred Label : Epilepsy, progressive myoclonic, 9;

Symbol : EPM9;

CISMeF acronym : EPM9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lamin B2 gene (LMNB2, 150341.0005);

Prefixed ID : #616540;

Details

Origin ID

616540;

UMLS CUI

C4225289;

CISMeF manual mappings
- Progressive myoclonic epilepsy type 9 [ORDO Disease]
Currated CISMeF NLP mapping
- Progressive myoclonic epilepsy type 9 (disorder) [SNOMED CT concept]
- progressive myoclonus epilepsy 9 [DO Concept]
DO Cross reference
- progressive myoclonus epilepsy 9 [DO Concept]
Genes related to phenotype
- Lamin b2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Gait ataxia [HPO term]
- Generalized amyotrophy [HPO term]
- Global developmental delay [HPO term]
- Microglossia [HPO term]
- Myoclonus [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short thumb [HPO term]
- Status epilepticus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Progressive myoclonic epilepsy type 9 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive myoclonic epilepsy type 9 [ORDO Disease]
- Progressive myoclonic epilepsy type 9 (disorder) [SNOMED CT concept]

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