Tremor, hereditary essential, 4

Preferred Label : Tremor, hereditary essential, 4;

Symbol : ETM4;

CISMeF acronym : ETM4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fused in sarcoma gene (FUS, 137070.0007);

Prefixed ID : #614782;

Détails

Origin ID

614782;

UMLS CUI

C3539195;

Automatic exact mappings (from CISMeF team)
- FUS wt Allele [NCIt concept]
- Hereditary essential tremor [ORDO Disease]
- essential tremor 4 [DO Concept]
DO Cross reference
- essential tremor 4 [DO Concept]
Genes related to phenotype
- Fus rna-binding protein [OMIM gene]
HPO term(s)
- Action tremor [HPO term]
- Autosomal dominant inheritance [HPO term]
- Postural tremor [HPO term]
Not associated HPO term(s)
- Parkinsonism [HPO term]
ORDO concept(s)
- Hereditary essential tremor [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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