| Metadata | |
|---|---|
| ID | DOID:0090005 |
| Name | Schwartz-Jampel syndrome 1 |
| Definition | A syndrome 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| 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] |
| Parent Relationships |
is_a syndrome |