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DOID:0110938 - autosomal dominant osteopetrosis 2
Disease Ontology Definition:An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.
Synonyms: Albers-Schonberg osteopetrosis, OPTA2, autosomal dominant Albers-Schonberg disease, autosomal dominant osteopetrosis type II, osteopetrosis autosomal dominant type 2,
Echinobase Genes : clcn7
MIM:166600 - osteopetrosis, autosomal dominant 2; opta2 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteopetrosis (is_a)