Spongiform encephalopathy with neuropsychiatric features

Preferred Label : Spongiform encephalopathy with neuropsychiatric features;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the prion protein gene (PRNP, 176640.0018);

Prefixed ID : #606688;

Details

Origin ID

606688;

UMLS CUI

C1847650;

Currated CISMeF NLP mapping
- spongiform encephalopathy with neuropsychiatric features [MeSH concept]
- spongiform encephalopathy with neuropsychiatric features [MeSH Supplementary Concept]
Genes related to phenotype
- Prion protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dementia [HPO term]
- Dementia, rapidly progressive [HPO term]
- Encephalopathy [HPO term]
- Gliosis [HPO term]
- Personality changes [HPO term]
Not associated HPO term(s)
- Neurofibrillary tangles [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- spongiform encephalopathy with neuropsychiatric features [MeSH Supplementary Concept]
- spongiform encephalopathy with neuropsychiatric features [MeSH concept]

Keyword's position in hierarchy(ies) :

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