Schwartz-Jampel Syndrome 1
Disease ID: disease_node_20261
Connections displayed (default: 10).
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| Dbxref | GARD:250, ICD10CM:G71.1, MIM:255800, ORDO:800 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Aberfeld syndrome, Burton skeletal dysplasia, Burton syndrome, Catel-Hempel syndrome, Catel-Hempel type dysostosis enchondralis metaepiphysaria, Schwartz-Jampel syndrome type 1, Schwartz-Jampel-Aberfeld syndrome, myotonic chondrodystrophy, myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies, osteochondromuscular dystrophy |
| Doid Label | Schwartz-Jampel syndrome 1 |
| Doid Description | A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20261 |
| Doid Id | DOID_0090005 |
| Label | Schwartz-Jampel Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)