MCID: CNG234

Congenital Myopathy, Paradas Type malady

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Myopathy, Paradas Type

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Sources:
52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Myopathy, Paradas Type:

Name: Congenital Myopathy, Paradas Type 52

Characteristics:

Orphanet epidemiological data:

52
congenital myopathy, paradas type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA199329
ICD10 via Orphanet29 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 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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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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet