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autosomal dominant osteopetrosis 2

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


GARD Rare
Mondo Description Albers-Schoenberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).
Uniprot Description A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008156:  autosomal dominant osteopetrosis 2
GARD:0000383: 
Orphanet:53: 
SCTID:725050005: 
UMLS:C3179239: