# acromesomelic dysplasia, Maroteaux type

> acromesomelic dysplasia that has material basis in mutation in NPR-B receptor which results in severe dwarfism, abnormalities of the located in vertebral column and shortening of middle and distal segments in the located in limb

**Wikidata**: [Q18553753](https://www.wikidata.org/wiki/Q18553753)  
**Source**: https://4ort.xyz/entity/acromesomelic-dysplasia-maroteaux-type


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000159899/MONDO_0011275)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000159899/Orphanet_40)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)