# spondyloepiphyseal dysplasia congenita

> Human disease

**Wikidata**: [Q7578960](https://www.wikidata.org/wiki/Q7578960)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Spondyloepiphyseal_dysplasia_congenita)  
**Source**: https://4ort.xyz/entity/spondyloepiphyseal-dysplasia-congenita


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0f217fba-a78c-4f9f-ad2a-301f0d53f046-2021-06-07T170000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0008471)
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)