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DOID:0080056 - achondrogenesis type II
Disease Ontology Definition:An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
Synonyms:
Xenbase Genes : col2a1
MONDO:0008702 - achondrogenesis type II |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee