# spondylometaphyseal dysplasia, Kozlowski type

> disease characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly

**Wikidata**: [Q11695513](https://www.wikidata.org/wiki/Q11695513)  
**Source**: https://4ort.xyz/entity/spondylometaphyseal-dysplasia-kozlowski-type


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d93031fa-8ea5-465a-a903-6e7ae36a5faa-2021-06-07T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000111199/MONDO_0008477)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)