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Autosomal dominant osteopetrosis type 2 (disorder)

http://snomed.info/id/725050005

A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13).

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Term info

Label

Autosomal dominant osteopetrosis type 2 (disorder)

Synonyms

Albers Schonberg osteopetrosis
Autosomal dominant osteopetrosis type 2

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Term relations

Subclass of:

Autosomal dominant hereditary disorder (disorder)
Osteopetrosis (disorder)
Osteopetrosis (disorder) and Autosomal dominant hereditary disorder (disorder) and Role group (attribute) some (
    Associated morphology (attribute) some Morphologically abnormal structure (morphologic abnormality) and
    Occurrence (attribute) some Congenital (qualifier value) and
    Finding site (attribute) some Bone structure (body structure) and
    Pathological process (attribute) some Pathological developmental process (qualifier value))