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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:0002089 | Pulmonary hypoplasia |
| HP:0000431 | Wide nasal bridge |
| HP:0003510 | Severe short stature |
| HP:0001059 | Pterygium |
| HP:0012368 | Flat face |
| HP:0000773 | Short ribs |
| HP:0002983 | Micromelia |
| HP:0000252 | Microcephaly |
| HP:0001627 | Abnormal heart morphology |
| HP:0000028 | Cryptorchidism |
