# Silverman-Handmaker type dyssegmental dysplasia

> osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has material basis in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36

**Wikidata**: [Q30989968](https://www.wikidata.org/wiki/Q30989968)  
**Source**: https://4ort.xyz/entity/silverman-handmaker-type-dyssegmental-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b601b27a-7ba4-4111-a524-b55cbb86eaa5-2022-05-21T030011.112Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000142798/Orphanet_1865)
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)