Parkinson Disease 19B, Early-Onset

Preferred Label : Parkinson Disease 19B, Early-Onset;

NCIt synonyms : PARK19B;

NCIt definition : An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the DNAJC6 gene, encoding putative tyrosine-protein phosphatase auxilin. It is characterized by an onset of Parkinsonism between the third and fifth decades. Mutations(s) in DNAJC6, are also causative in PARK19A.;

NCI Metathesaurus CUI : CL602230;

Details

Origin ID

C198609;

UMLS CUI

C4310802;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Parkinson disease 19a, juvenile-onset [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- DNAJC6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients