MCID: RRD039
MIFTS: 8

Rare Dystonia

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Dystonia

MalaCards integrated aliases for Rare Dystonia:

Name: Rare Dystonia 58
Rare Dystonic Disorder 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

UMLS via Orphanet 72 C0393593
Orphanet 58 ORPHA68363

Summaries for Rare Dystonia

MalaCards based summary : Rare Dystonia, is also known as rare dystonic disorder.

Related Diseases for Rare Dystonia

Symptoms & Phenotypes for Rare Dystonia

Drugs & Therapeutics for Rare Dystonia

Search Clinical Trials , NIH Clinical Center for Rare Dystonia

Genetic Tests for Rare Dystonia

Anatomical Context for Rare Dystonia

Publications for Rare Dystonia

Articles related to Rare Dystonia:

# Title Authors PMID Year
1
COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature. 61
32037012 2020
2
Management of dystonia in Europe: a survey of the European network for the study of the dystonia syndromes. 61
26826067 2016
3
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease. 61
21556877 2011
4
Large deletions account for an increasing number of mutations in SGCE. 61
18098280 2008
5
Dystonia in corticobasal degeneration. 61
10624471 2000
6
Safety of olanzapine. 61
9265911 1997
7
Spasmodic dysphonia: new diagnosis and treatment opportunities. 61
7816374 1994

Variations for Rare Dystonia

Expression for Rare Dystonia

Search GEO for disease gene expression data for Rare Dystonia.

Pathways for Rare Dystonia

GO Terms for Rare Dystonia

Sources for Rare Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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