Dystonia 16 - CISMeF

Preferred Label : Dystonia 16;

Symbol : DYT16;

CISMeF acronym : DYT16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protein kinase, interferon-inducible double-stranded RNA-dependent activator gene (PRKRA, 603424.0001);

Prefixed ID : #612067;

Details

Origin ID

612067;

UMLS CUI

C2677567;

Automatic exact mappings (from CISMeF team)
- protein activator of interferon induced protein kinase EIF2AK2 [ORDO Gene]
- protein activator of interferon induced protein kinase EIF2AK2 [HGNC gene]
Currated CISMeF NLP mapping
- Dystonia 16 [NCIt concept]
- Dystonia 16 [ORDO Disease]
- Dystonia 16 (disorder) [SNOMED CT concept]
- dystonia 16 [DO Concept]
- dystonia 16 [MeSH concept]
- dystonia 16 [MeSH Supplementary Concept]
DO Cross reference
- dystonia 16 [DO Concept]
Genes related to phenotype
- Protein kinase, interferon-inducible double-stranded rna-dependent activator [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Cognitive impairment [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dyskinesia [HPO term]
- Dysphagia [HPO term]
- Dysphonia [HPO term]
- Gait disturbance [HPO term]
- Hyperreflexia [HPO term]
- Involuntary movements [HPO term]
- Laryngeal dystonia [HPO term]
- Limb dystonia [HPO term]
- Limb pain [HPO term]
- Lower limb pain [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Motor delay [HPO term]
- Parkinsonism [HPO term]
- Postural tremor [HPO term]
- Progressive [HPO term]
- Retrocollis [HPO term]
- Speech delay [HPO term]
ORDO concept(s)
- Dystonia 16 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 16 [ORDO Disease]
- Dystonia 16 [NCIt concept]
- Dystonia 16 (disorder) [SNOMED CT concept]
- dystonia 16 [MeSH Supplementary Concept]
- dystonia 16 [MeSH concept]
- dystonia 16 [DO Concept]

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