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Summary Literature (3)
DOID:0050463 - campomelic dysplasia

Disease Ontology 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.

Synonyms: Acampomelic Campomelic Dysplasia,

Xenbase Genes : sox9

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007251 - campomelic dysplasia


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)