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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,
Echinobase Genes : sox9
MIM:114290 - campomelic dysplasia |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteochondrodysplasia (is_a)