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 55

Characteristics:

Orphanet epidemiological data:

55
congenital myopathy, paradas type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA199329
ICD10 via Orphanet 33 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....