MCID: CNG234
MIFTS: 4

Congenital Myopathy, Paradas Type malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Myopathy, Paradas Type

Aliases & Descriptions for Congenital Myopathy, Paradas Type:

Name: Congenital Myopathy, Paradas Type 56

Characteristics:

Orphanet epidemiological data:

56
congenital myopathy, paradas type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA199329
ICD10 via Orphanet 34 G71.2

Summaries for Congenital Myopathy, Paradas Type

MalaCards based summary : Congenital Myopathy, Paradas Type An important gene associated with Congenital Myopathy, Paradas Type is DYSF (Dysferlin).

Related Diseases for Congenital Myopathy, Paradas Type

Symptoms & Phenotypes for Congenital Myopathy, Paradas Type

Drugs & Therapeutics for Congenital Myopathy, Paradas Type

Search Clinical Trials , NIH Clinical Center for Congenital Myopathy, Paradas Type

Genetic Tests for Congenital Myopathy, Paradas Type

Anatomical Context for Congenital Myopathy, Paradas Type

Publications for Congenital Myopathy, Paradas Type

Variations for Congenital Myopathy, Paradas Type

Expression for Congenital Myopathy, Paradas Type

Search GEO for disease gene expression data for Congenital Myopathy, Paradas Type.

Pathways for Congenital Myopathy, Paradas Type

GO Terms for Congenital Myopathy, Paradas Type

Sources for Congenital Myopathy, Paradas Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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