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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:0003026 | Short long bone |
| HP:0003173 | Hypoplastic pubic bone |
| HP:0003175 | Hypoplastic ischia |
| HP:0003510 | Severe short stature |
| HP:0005268 | Miscarriage |
| HP:0005622 | Broad long bones |
| HP:0009826 | Limb undergrowth |
| HP:0012368 | Flat face |
| HP:0100759 | Clubbing of fingers |
| HP:0000007 | Autosomal recessive inheritance |
