DO_rare_slim NCIthesaurus has phenotype osteochondrodysplasia achondroplasia SNOMEDCT_US_2025_09_01:268273004 MIM:100800 An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. disease_ontology NCI:C34345 GARD:8173 UMLS_CUI:C0001080 MESH:C531599 Achondroplastic physique Chondrodystrophia ICD10CM:Q77.4 MESH:D000130 DOID:4480 MESH:D000130 OMIM mapping confirmed by DO. [SN]. osteosclerosis congenita Severe short stature