Encephalopathy, familial, with neuroserpin inclusion bodies

Preferred Label : Encephalopathy, familial, with neuroserpin inclusion bodies;

Symbol : FENIB;

CISMeF acronym : FENIB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Encephalopathy, familial, with collins bodies;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protease inhibitor 12 gene (PI12, 602445.0001).;

Prefixed ID : #604218;

Détails

Origin ID

604218;

UMLS CUI

C1858680;

Automatic exact mappings (from CISMeF team)
- Familial encephalopathy with neuroserpin inclusion bodies [ICD-11 More detail]
Currated CISMeF NLP mapping
- Familial encephalopathy with neuroserpin inclusion bodies [MeSH concept]
- Familial encephalopathy with neuroserpin inclusion bodies [ORDO Disease]
- Familial encephalopathy with neuroserpin inclusion bodies (disorder) [SNOMED CT concept]
- familial encephalopathy with neuroserpin inclusion bodies [DO Concept]
- familial encephalopathy with neuroserpin inclusion bodies [MeSH Supplementary Concept]
DO Cross reference
- familial encephalopathy with neuroserpin inclusion bodies [DO Concept]
Genes related to phenotype
- Serine protease inhibitor, clade I, member 1 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Dementia [HPO term]
- Diplopia [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Encephalopathy [HPO term]
- Epilepsy [HPO term]
- Gliosis [HPO term]
- Myoclonus [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Familial encephalopathy with neuroserpin inclusion bodies [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial encephalopathy with neuroserpin inclusion bodies [ORDO Disease]
- Familial encephalopathy with neuroserpin inclusion bodies [MeSH concept]
- Familial encephalopathy with neuroserpin inclusion bodies (disorder) [SNOMED CT concept]
- familial encephalopathy with neuroserpin inclusion bodies [MeSH Supplementary Concept]
- familial encephalopathy with neuroserpin inclusion bodies [DO Concept]

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