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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:0012544 | Elevated circulating aldolase concentration |
| HP:0100569 | Abnormally ossified vertebrae |
| HP:0100612 | Odontogenic neoplasm |
| HP:0100795 | Abnormally straight spine |
| HP:0100813 | Testicular torsion |
| HP:0001374 | Congenital hip dislocation |
| HP:0002002 | Deep philtrum |
| HP:0002515 | Waddling gait |
| HP:0002751 | Kyphoscoliosis |
| HP:0002938 | Lumbar hyperlordosis |
