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 60

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Orphanet 60 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...

GO Terms for Childhood-Onset Progressive Contractures-Limb-Girdle...

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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