MCID: CNG234
MIFTS: 4

Congenital Myopathy, Paradas Type

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Myopathy, Paradas Type

MalaCards integrated aliases for Congenital Myopathy, Paradas Type:

Name: Congenital Myopathy, Paradas Type 59

Characteristics:

Orphanet epidemiological data:

59
congenital myopathy, paradas type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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