# metatropic dysplasia

> metatropic dwarfism

**Wikidata**: [Q47197007](https://www.wikidata.org/wiki/Q47197007)  
**Source**: https://4ort.xyz/entity/metatropic-dysplasia


## 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/70f8ac2b-5570-4672-b0ee-2f3a342ccd44--2020-12-08T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_70f8ac2b-5570-4672-b0ee-2f3a342ccd44-2020-12-08T170000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000111199/MONDO_0007986)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)