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Disease Ontology Browser
campomelic dysplasia (DOID:0050463)
Alliance: disease page
Synonyms: Acampomelic Campomelic Dysplasia
Alt IDs: OMIM:114290, MESH:D055036, NCI:C120205, NCI:C84609, ORDO:140, UMLS_CUI:C1861922, UMLS_CUI:C1861923
Definition: 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.

Disease References using Mouse Models (6)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory