MCID: CNG234

Congenital Myopathy, Paradas Type malady

Neuronal diseases, Rare diseases categories

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).

Aliases & Classifications for Congenital Myopathy, Paradas Type

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Sources:
47Orphanet, 26ICD10 via Orphanet
See all sources

Congenital Myopathy, Paradas Type, Aliases & Descriptions:

Name: Congenital Myopathy, Paradas Type 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
congenital myopathy, paradas type:
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 199329
ICD10 via Orphanet26 G71.2

Related Diseases for Congenital Myopathy, Paradas Type

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Symptoms for Congenital Myopathy, Paradas Type

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Drugs & Therapeutics for Congenital Myopathy, Paradas Type

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Drug clinical trials:

Search ClinicalTrials for Congenital Myopathy, Paradas Type

Search 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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Animal Models for Congenital Myopathy, Paradas Type or affiliated genes

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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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Compounds 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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Products for genes affiliated with Congenital Myopathy, Paradas Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Myopathy, Paradas Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet