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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0008702 - achondrogenesis type II


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

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