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Summary Literature (2)
DOID:0050463 - campomelic dysplasia


Disease Ontology Definition:An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur.

Synonyms: Acampomelic Campomelic Dysplasia

In OMIM:
OMIM:114290 - CAMPOMELIC DYSPLASIA

In Mondo Disease Ontology:
MONDO:0007251 - campomelic dysplasia

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : sox9

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), osteochondrodysplasia (is_a)