DO_rare_slim NCIthesaurus has material basis in disease has location campomelic dysplasia NCI:C84609 GARD:10027 DOID:0050463 MESH:D055036 disease_ontology MIM:114290 UMLS_CUI:C1861922 UMLS_CUI:C1861923 Acampomelic Campomelic Dysplasia An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. ORDO:140 NCI:C120205 OMIM mapping confirmed by DO. [SN]. autosomal dominant disease osteochondrodysplasia autosomal dominant inheritance tibia femur