Dystonia-deafness syndrome 1

Preferred Label : Dystonia-deafness syndrome 1;

Symbol : DDS1;

CISMeF acronym : DJO;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dystonia, juvenile-onset; DJO;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-actin gene (ACTB, 102630.0001).;

Prefixed ID : #607371;

Details

Origin ID

607371;

UMLS CUI

C5848323;

Automatic exact mappings (from CISMeF team)
- Developmental malformations-deafness-dystonia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- juvenile-onset dystonia [MeSH concept]
- juvenile-onset dystonia [MeSH Supplementary Concept]
Genes related to phenotype
- Actin, beta [OMIM gene]
HPO term(s)
- Achalasia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Externally rotated hips [HPO term]
- Generalized dystonia [HPO term]
- High forehead [HPO term]
- Hypoplastic scapulae [HPO term]
- Intellectual disability, mild [HPO term]
- Kyphoscoliosis [HPO term]
- Mild global developmental delay [HPO term]
- Sensorineural hearing impairment [HPO term]
- Small for gestational age [HPO term]
ORDO concept(s)
- Developmental malformations-deafness-dystonia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- juvenile-onset dystonia [MeSH Supplementary Concept]
- juvenile-onset dystonia [MeSH concept]

Keyword's position in hierarchy(ies) :

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