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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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q05793 | Basement membrane-specific heparan sulfate proteoglycan core protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002947 | Cervical kyphosis |
| HP:0002979 | Bowing of the legs |
| HP:0003016 | Metaphyseal widening |
| HP:0003177 | Squared iliac bones |
| HP:0003417 | Coronal cleft vertebrae |
| HP:0003552 | Muscle stiffness |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003731 | Quadriceps muscle weakness |
| HP:0006473 | Anterior bowing of long bones |
