Parkinson disease 7, autosomal recessive early-onset

Preferred Label : Parkinson disease 7, autosomal recessive early-onset;

Symbol : PARK7;

CISMeF acronym : PARK7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DJ1 gene (602533.0001);

Prefixed ID : #606324;

Détails

Origin ID

606324;

UMLS CUI

C1853445;

Automatic exact mappings (from CISMeF team)
- PARK7 Gene [NCIt concept]
- PARK7 gene [LOINC component]
- Parkinsonism associated deglycase [HGNC gene]
- Protein DJ-1 [NCIt concept]
- Young-onset Parkinson disease [ORDO Disease]
Currated CISMeF NLP mapping
- Parkinson Disease 7, Autosomal Recessive Early-Onset [NCIt concept]
- Parkinson's disease 7 [DO Concept]
- Parkinsonism associated deglycase [ORDO Gene]
- parkinson disease 7, autosomal recessive Early-Onset [MeSH concept]
- parkinson disease 7, autosomal recessive Early-Onset [MeSH Supplementary Concept]
DO Cross reference
- Parkinson's disease 7 [DO Concept]
Genes related to phenotype
- Oncogene dj1 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Anxiety [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharospasm [HPO term]
- Blepharospasm may occur [HPO term]
- Bradykinesia [HPO term]
- Brisk reflexes [HPO term]
- Dyskinesia [HPO term]
- Leg dystonia [HPO term]
- Parkinsonism with favorable response to dopaminergic medication [HPO term]
- Postural tremor [HPO term]
- Psychotic episodes [HPO term]
- Resting tremor [HPO term]
- Rigidity [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Young-onset Parkinson disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parkinson Disease 7, Autosomal Recessive Early-Onset [NCIt concept]
- Parkinson's disease 7 [DO Concept]
- Parkinsonism associated deglycase [ORDO Gene]
- parkinson disease 7, autosomal recessive Early-Onset [MeSH Supplementary Concept]
- parkinson disease 7, autosomal recessive Early-Onset [MeSH concept]

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