# platyspondylic lethal skeletal dysplasia, Torrance type

> although generally lethal, survival to adulthood has been reported in two families

**Wikidata**: [Q7202845](https://www.wikidata.org/wiki/Q7202845)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Platyspondylic_lethal_skeletal_dysplasia,_Torrance_type)  
**Source**: https://4ort.xyz/entity/platyspondylic-lethal-skeletal-dysplasia-torrance-type


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a4c42c43-7b6a-4456-aeb1-7a00302a468b-2021-02-01T180000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0007895)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)