Achondroplasia

{
  "id": "MLC-T-CHM-000130",
  "term": "Achondroplasia",
  "field": "Chemistry",
  "definition": "The most common inherited form of disproportionate short stature, caused by a mutation in the FGFR3 gene, which codes for fibroblast growth factor receptor 3. The altered receptor disrupts endochondral ossification, the conversion of cartilage into bone, so the long bones grow slowly and the limbs stay short. It follows an autosomal dominant pattern of inheritance.",
  "subject": "Chemistry and Human Health",
  "see_also": [
    "endochondral ossification",
    "osteogenesis"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 715 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/achondroplasia/"
}