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:
48Orphanet, 27ICD10 via Orphanet
See all sources

Congenital Myopathy, Paradas Type, Aliases & Descriptions:

Name: Congenital Myopathy, Paradas Type 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital myopathy, paradas type:
Prevalence: <1/1000000; Age of onset: Neonatal/infancy


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ICD10 via Orphanet27 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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Expression patterns in normal tissues for genes affiliated with Congenital Myopathy, Paradas Type

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet