Spastic paraplegia, epilepsy, and impaired intellectual development

Preferred Label : Spastic paraplegia, epilepsy, and impaired intellectual development;

Symbol : SPEMR;

CISMeF acronym : SPEMR;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Spastic paraplegia, epilepsy, and mental retardation;

Inheritance : Autosomal dominant;

Prefixed ID : 182610;

Details

Origin ID

182610;

UMLS CUI

C1866854;

Automatic exact mappings (from CISMeF team)
- Spastic paraplegia epilepsy mental retardation [MeSH concept]
Currated CISMeF NLP mapping
- Spastic paraplegia-epilepsy-intellectual disability syndrome [ORDO Disease]
- spastic paraplegia epilepsy mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Epilepsy [HPO term]
- Intellectual disability [HPO term]
- Lower limb muscle weakness [HPO term]
- Seizure [HPO term]
- Spastic paraparesis [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Spastic paraplegia-epilepsy-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic paraplegia epilepsy mental retardation [MeSH concept]
- Spastic paraplegia-epilepsy-intellectual disability syndrome [ORDO Disease]
- spastic paraplegia epilepsy mental retardation [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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