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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:0000946 | Hypoplastic ilia |
| HP:0003173 | Hypoplastic pubic bone |
| HP:0000358 | Posteriorly rotated ears |
| HP:0001789 | Hydrops fetalis |
| HP:0000175 | Cleft palate |
| HP:0002879 | Anisospondyly |
| HP:0000519 | Developmental cataract |
| HP:0005622 | Broad long bones |
| HP:0001371 | Flexion contracture |
| HP:0000119 | Abnormality of the genitourinary system |
