MCID: CHL130
MIFTS: 3

Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Childhood-Onset Progressive Contractures-Limb-Girdle...

MalaCards integrated aliases for Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome:

Name: Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA466921

Summaries for Childhood-Onset Progressive Contractures-Limb-Girdle...

MalaCards based summary : Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome An important gene associated with Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome is TTN (Titin).

Related Diseases for Childhood-Onset Progressive Contractures-Limb-Girdle...

Symptoms & Phenotypes for Childhood-Onset Progressive Contractures-Limb-Girdle...

Drugs & Therapeutics for Childhood-Onset Progressive Contractures-Limb-Girdle...

Search Clinical Trials , NIH Clinical Center for Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome

Genetic Tests for Childhood-Onset Progressive Contractures-Limb-Girdle...

Anatomical Context for Childhood-Onset Progressive Contractures-Limb-Girdle...

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Variations for Childhood-Onset Progressive Contractures-Limb-Girdle...

Expression for Childhood-Onset Progressive Contractures-Limb-Girdle...

Search GEO for disease gene expression data for Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome.

Pathways for Childhood-Onset Progressive Contractures-Limb-Girdle...

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Sources for Childhood-Onset Progressive Contractures-Limb-Girdle...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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