Epilepsy, photogenic, with spastic diplegia and impaired intellectual development

Preferred Label : Epilepsy, photogenic, with spastic diplegia and impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Epilepsy, photogenic, with spastic diplegia and mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 226800;

Details

Origin ID

226800;

UMLS CUI

C1856931;

Currated CISMeF NLP mapping
- epilepsy, photogenic, with spastic diplegia and mental retardation [MeSH concept]
- epilepsy, photogenic, with spastic diplegia and mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Epilepsy [HPO term]
- Intellectual disability [HPO term]
- Photosensitive tonic-clonic seizure [HPO term]
- Spastic diplegia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- epilepsy, photogenic, with spastic diplegia and mental retardation [MeSH Supplementary Concept]
- epilepsy, photogenic, with spastic diplegia and mental retardation [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients