Schwartz-Jampel syndrome 1

Term ID

DOID:0090005

Synonyms

Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Catel-Hempel type dysostosis enchondralis metaepiphysaria
myotonic chondrodystrophy
myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
osteochondromuscular dystrophy
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome

(all 10)

Definition

A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. (3)

References

GARD:250
ICD10CM:G71.1
MIM:255800
ORDO:800

(all 4)

Ontology

Human Disease ( DOID:0090005 )

Relationships

is a type of: autosomal recessive disease syndrome

autosomal recessive disease syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models