Summary Literature (0)

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


OMIM:

MIM:166600 - osteopetrosis, autosomal dominant 2; opta2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee