Dopamine Transporter Deficiency Syndrome

Preferred Label : Dopamine Transporter Deficiency Syndrome;

NCIt synonyms : Parkinsonism-Dystonia, Infantile; PKDYS;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SLC6A3 gene, encoding sodium-dependent dopamine transporter. It is characterized by Parkinsonian features and has an onset in early infancy.;

Details

Origin ID

C129866;

UMLS CUI

C2751067;

Currated CISMeF NLP mapping
- Infantile dystonia parkinsonism (disorder) [SNOMED CT concept]
- Infantile dystonia-parkinsonism [ORDO Disease]
- Parkinsonism-Dystonia, infantile [MeSH Supplementary Concept]
- Parkinsonism-Dystonia, infantile [MeSH concept]
- Parkinsonism-dystonia 1, infantile-onset [OMIM Phenotype]
- Parkinsonism-dystonia, infantile [OMIM phenotypic series]
- dopamine transporter deficiency syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile dystonia parkinsonism (disorder) [SNOMED CT concept]
- Infantile dystonia-parkinsonism [ORDO Disease]
- Parkinsonism-Dystonia, infantile [MeSH Supplementary Concept]
- Parkinsonism-Dystonia, infantile [MeSH concept]
- Parkinsonism-dystonia 1, infantile-onset [OMIM Phenotype]
- dopamine transporter deficiency syndrome [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SLC6A3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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