Parkinson disease 6, autosomal recessive early-onset

Preferred Label : Parkinson disease 6, autosomal recessive early-onset;

Symbol : PARK6;

CISMeF acronym : PARK6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Parkinson disease 6, early-onset; PARK6;

Included titles and symbols : Parkinson disease 6, late-onset, susceptibility to; Parkinson disease, autosomal recessive early-onset, digenic, pink1/dj1;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PTEN-induced putative kinase-1 gene (PINK1, 608309.0001);

Prefixed ID : #605909;

Details

Origin ID

605909;

UMLS CUI

C1853833;

Currated CISMeF NLP mapping
- Parkinson Disease 6, Early Onset [NCIt concept]
- Parkinson's disease 6 [DO Concept]
- parkinson disease 6, autosomal recessive Early-Onset [MeSH concept]
- parkinson disease 6, autosomal recessive Early-Onset [MeSH Supplementary Concept]
DO Cross reference
- Parkinson's disease 6 [DO Concept]
Genes related to phenotype
- Pten-induced kinase 1 [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dystonia [HPO term]
- Hyperreflexia [HPO term]
- Infantile onset [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Resting tremor [HPO term]
- Rigidity [HPO term]
- Slowly progressive [HPO term]
- Urinary urgency [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 6, Early Onset [NCIt concept]
- Parkinson's disease 6 [DO Concept]
- parkinson disease 6, autosomal recessive Early-Onset [MeSH Supplementary Concept]
- parkinson disease 6, autosomal recessive Early-Onset [MeSH concept]

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