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Schwartz-Jampel syndrome 1
Summary
- Synonym
-
- 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
- Definition
- A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0090005
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000912 | Sprengel anomaly |
| HP:0000926 | Platyspondyly |
| HP:0000939 | Osteoporosis |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0001083 | Ectopia lentis |
| HP:0001239 | Wrist flexion contracture |
| HP:0001249 | Intellectual disability |
| HP:0001265 | Hyporeflexia |
| HP:0001276 | Hypertonia |
| HP:0001288 | Gait disturbance |
