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Silverman-Handmaker type dyssegmental dysplasia
Summary
- Definition
- An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0090032
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001362 | Calvarial skull defect |
| HP:0003577 | Congenital onset |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001548 | Overgrowth |
| HP:0000272 | Malar flattening |
| HP:0006487 | Bowing of the long bones |
| HP:0000518 | Cataract |
| HP:0002085 | Occipital encephalocele |
| HP:0003811 | Neonatal death |
