| Disease Aliases (30) | Aberfeld syndrome Burton disease Burton skeletal dysplasia Burton syndrome Chondrodystrophic myotonia Catel-hempel syndrome Catel-hempel type Catel-hempel type dysostosis enchondralis metaepiphysaria Dysostosis enchondralis metaepiphysaria Dysostosis enchondralis metaepiphysaria, catel-hempel type Myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities Myotonic chondrodystrophy Myotonic myopathy Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Osteochondromuscular dystrophy Schwartz-jampel-aberfeld syndrome Sja syndrome Sjs Sjs1 Schwartz jampel aberfeld syndrome Schwartz jampel syndrome Schwartz-jampel syndrome 1 Schwartz-jampel syndrome type 1 Schwartz-jampel syndrome, type 1 Schwartz-jampel syndrome, type 1; sjs1 Chondrodystrophy Dwarfism Ocular and facial anomalies |
Associated Genes (1) NCBI-RefSeq: HSPG2 (Heparan sulfate proteoglycan 2) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Schwartz-Jampel syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |