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 60

Characteristics:

Orphanet epidemiological data:

60
congenital myopathy, paradas type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G71.2
Orphanet 60 ORPHA199329

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....