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: autosomal dominant Albers-Schonberg disease, osteopetrosis autosomal dominant type 2, Albers-Schonberg osteopetrosis, autosomal dominant osteopetrosis type II, OPTA2

Xenbase Genes : clcn7

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008156 - autosomal dominant osteopetrosis 2

MIM:

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