MCID: CNG234

Congenital Myopathy, Paradas Type malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Myopathy, Paradas Type

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Sources:
31ICD10 via Orphanet, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Myopathy, Paradas Type:

Name: Congenital Myopathy, Paradas Type 54

Characteristics:

Orphanet epidemiological data:

54
congenital myopathy, paradas type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA199329
ICD10 via Orphanet31 G71.2

Summaries for Congenital Myopathy, Paradas Type

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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

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Symptoms & Phenotypes for Congenital Myopathy, Paradas Type

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Drugs & Therapeutics for Congenital Myopathy, Paradas Type

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Interventional clinical trials:

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

Genetic Tests for Congenital Myopathy, Paradas Type

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Anatomical Context for Congenital Myopathy, Paradas Type

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Publications for Congenital Myopathy, Paradas Type

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Variations for Congenital Myopathy, Paradas Type

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Expression for genes affiliated with Congenital Myopathy, Paradas Type

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

Pathways for genes affiliated with Congenital Myopathy, Paradas Type

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GO Terms for genes affiliated with Congenital Myopathy, Paradas Type

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Sources for Congenital Myopathy, Paradas Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet