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Metadata
DOID DOID:0090005
Name Schwartz-Jampel syndrome 1
Definition An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
https://www.ncbi.nlm.nih.gov/pubmed/11941538, https://www.ncbi.nlm.nih.gov/pubmed/1552548, https://www.ncbi.nlm.nih.gov/pubmed/18647752
Synonyms

Aberfeld syndrome [EXACT]

Burton skeletal dysplasia [EXACT]

Burton syndrome [EXACT]

Catel-Hempel syndrome [EXACT]

Catel-Hempel type dysostosis enchondralis metaepiphysaria [EXACT]

myotonic chondrodystrophy [EXACT]

myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies [EXACT]

osteochondromuscular dystrophy [EXACT]

Schwartz-Jampel syndrome type 1 [EXACT]

Schwartz-Jampel-Aberfeld syndrome [EXACT]

Xrefs

GARD:250

ICD10CM:G71.1

OMIM:255800

ORDO:800

Relationships

is_a autosomal recessive disease

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