Parkinson disease 23, autosomal recessive early-onset

Preferred Label : Parkinson disease 23, autosomal recessive early-onset;

Symbol : PARK23;

CISMeF acronym : PARK23;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the vacuolar protein sorting 13 homolog C gene (VPS13C, 608879.0001);

Prefixed ID : #616840;

Details

Origin ID

616840;

UMLS CUI

C4225186;

Automatic exact mappings (from CISMeF team)
- Parkinson's disease 23 [DO Concept]
DO Cross reference
- Parkinson's disease 23 [DO Concept]
Genes related to phenotype
- Vacuolar protein sorting 13 homolog C [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Abnormal pyramidal sign [HPO term]
- Akinesia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Dementia [HPO term]
- Hyperreflexia [HPO term]
- Lewy bodies [HPO term]
- Limb dystonia [HPO term]
- Mental deterioration [HPO term]
- Neurofibrillary tangles [HPO term]
- Parkinsonism [HPO term]
- Progressive [HPO term]
- Resting tremor [HPO term]
- Rigidity [HPO term]
- Spasticity [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 23, Autosomal Recessive, Early Onset [NCIt concept]

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