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Autosomal Dominant Osteopetrosis 2 (MONDO:0008156)

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).

Overview

Category

musculoskeletal system disorder

Ontology ID

MONDO:0008156

Internal:9467

Synonyms

Albers-Schönberg osteopetrosis

OPTA2

autosomal dominant osteopetrosis type 2

osteopetrosis autosomal dominant type 2

osteopetrosis, autosomal dominant type 2

Albers-Schonberg disease, autosomal dominant

marble bones, autosomal dominant

osteopetrosis, autosomal dominant 2

osteopetrosis, autosomal dominant, type 2

osteosclerosis Fragilis generalisata

Mapped terms

DOID:0110938

GARD:0000383

MEDGEN:465707

OMIM:166600

Orphanet:53

SCTID:725050005

UMLS:C3179239

Child terms

Unknown children.

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