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MIRAGE
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
- 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:0000470 | Short neck |
| HP:0000519 | Developmental cataract |
| HP:0000520 | Proptosis |
| HP:0000773 | Short ribs |
| HP:0000774 | Narrow chest |
| HP:0000946 | Hypoplastic ilia |
| HP:0001007 | Hirsutism |
| HP:0001059 | Pterygium |
| HP:0001195 | Single umbilical artery |
| HP:0001371 | Flexion contracture |
