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Disease Ontology Browser
Schwartz-Jampel syndrome 1 (DOID:0090005)
Alliance: disease page
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
Alt IDs: OMIM:255800, ICD10CM:G71.1, ORDO:800
Definition: A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory