MCID: CHL130
MIFTS: 3

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

Categories: Muscle diseases, 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 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 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...

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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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