Dystonia 17, torsion, autosomal recessive

Preferred Label : Dystonia 17, torsion, autosomal recessive;

Symbol : DYT17;

CISMeF acronym : DYT17;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %612406;

Détails

Origin ID

612406;

UMLS CUI

C2676281;

Currated CISMeF NLP mapping
- Primary dystonia DYT17 type (disorder) [SNOMED CT concept]
- Primary dystonia, DYT17 type [ORDO Disease]
- dystonia 17, torsion, autosomal recessive [MeSH concept]
- dystonia 17, torsion, autosomal recessive [MeSH Supplementary Concept]
- torsion dystonia 17 [DO Concept]
DO Cross reference
- torsion dystonia 17 [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dysarthria [HPO term]
- Dysphonia [HPO term]
- Focal dystonia [HPO term]
- Torticollis [HPO term]
ORDO concept(s)
- Primary dystonia, DYT17 type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- dystonia 17, torsion, autosomal recessive [MeSH Supplementary Concept]
- dystonia 17, torsion, autosomal recessive [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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