Definition

A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24.

[1]

Synonyms

Familial osteoectasia
Hereditary hyperphosphatasia

Cross References

Parent Terms

Child Terms

None

Sources of Associations

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Paget's disease of bone 5

Paget's disease of bone 5

Associated Genes

Associated Alleles

Associated Models