Parkinson disease 22, autosomal dominant

Preferred Label : Parkinson disease 22, autosomal dominant;

Symbol : PARK22;

CISMeF acronym : PARK22;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the coiled-coil-helix-coiled-coil-helix domain-containing protein 2 gene (CHCHD2, 616244.0001);

Prefixed ID : #616710;

Details

Origin ID

616710;

UMLS CUI

C4225238;

Automatic exact mappings (from CISMeF team)
- Parkinson's disease 22 [DO Concept]
DO Cross reference
- Parkinson's disease 22 [DO Concept]
Genes related to phenotype
- Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Constipation [HPO term]
- Gait disturbance [HPO term]
- Hyperreflexia [HPO term]
- Orthostatic hypotension [HPO term]
- Resting tremor [HPO term]
- Tremor [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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