Epilepsy, idiopathic generalized, susceptibility to, 15

Preferred Label : Epilepsy, idiopathic generalized, susceptibility to, 15;

Symbol : EIG15;

CISMeF acronym : EIG15;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RAR-related orphan receptor B gene (RORB, 601972.0001);

Prefixed ID : #618357;

Details

Origin ID

618357;

UMLS CUI

C5193050;

Automatic exact mappings (from CISMeF team)
- Susceptibility to Idiopathic Generalized Epilepsy-15 [NCIt concept]
Currated CISMeF NLP mapping
- idiopathic generalized epilepsy 15 [DO Concept]
DO Cross reference
- idiopathic generalized epilepsy 15 [DO Concept]
Genes related to phenotype
- Rar-related orphan receptor b [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cutaneous photosensitivity [HPO term]
- Delayed speech and language development [HPO term]
- Eyelid myoclonus [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Incomplete penetrance [HPO term]
- Myoclonus [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Susceptibility to Idiopathic Generalized Epilepsy-15 [NCIt concept]

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