ZFIN Human Disease: Schwartz-Jampel syndrome 1

OBO ID: DOID:0090005

Term Name:	Schwartz-Jampel syndrome 1		Search Ontology:
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
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 OMIM:255800 ORDO:800
Ontology:	Human Disease ( DOID:0090005 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Schwartz-Jampel syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HSPG2	hspg2	Schwartz-Jampel syndrome, type 1	255800

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)