autosomal dominant osteopetrosis 2

Summary

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: clcn7

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008156 - autosomal dominant osteopetrosis 2

MONDO:0008156 - autosomal dominant osteopetrosis 2

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

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

Parent(s): autosomal dominant disease (is_a), osteopetrosis (is_a), spinal disease (is_a)