Striatal degeneration, autosomal dominant 1

Preferred Label : Striatal degeneration, autosomal dominant 1;

Symbol : ADSD1;

CISMeF acronym : ADSD1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphodiesterase 8B gene (PDE8B, 603390.0002);

Prefixed ID : #609161;

Détails

Origin ID

609161;

UMLS CUI

C4310808;

Currated CISMeF NLP mapping
- Autosomal dominant striatal neurodegeneration [ORDO Disease]
- Autosomal dominant striatal neurodegeneration (disorder) [SNOMED CT concept]
- striatal degeneration, autosomal dominant [MeSH concept]
- striatal degeneration, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- striatonigral degeneration [DO Concept]
Genes related to phenotype
- Phosphodiesterase 8b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Brisk lower extremity reflexes [HPO term]
- Degeneration of the striatum [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Gait disturbance [HPO term]
- Hypokinesia [HPO term]
- Lower limb hyperreflexia [HPO term]
- Rigidity [HPO term]
- Slowly progressive [HPO term]
- Symmetric lesions of the basal ganglia [HPO term]
Not associated HPO term(s)
- Tremor [HPO term]
ORDO concept(s)
- Autosomal dominant striatal neurodegeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients