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Schwartz-Jampel syndrome

Disease Summary
Associated Targets (15)
Tbio

8

Tclin

5

Tchem

2


Explore Associated Targets
Mondo Description Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.
Uniprot Description Rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses.
Disease Ontology Description An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
Mondo Term and Equivalent IDs
MONDO:0009717:  Schwartz-Jampel syndrome
GARD:0000250: 
NCIT:C35008: 
Orphanet:800: 
SCTID:29145002: 
UMLS:C0036391: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

1924

Tchem

362

Tdark

217

Tclin

142

Tbio

1181

Tchem

268

Tclin

140

Tdark

71

Tbio

868

Tchem

175

Tdark

147

Tclin

60

Tbio

34

Tclin

7

Tchem

5

Tdark

3

Tbio

30

Tchem

9

Tclin

5

Tdark

2

Tbio

10

Tclin

7

Tchem

2

Children
Target Novelty (Tin-x)