Paget disease of bone type 2
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Related to Paget disease of bone type 2: Extramammary Paget's disease
Paget disease of bone type 2A disorder of bone remodelling (OMIM:602080) that involves the axial skeleton, with lesions of the spine, pelvis and skull.
Caused by defects in TNFRSF11A, which encodes a member of the TNF receptor that is essential for RANKL-mediated osteoclastogenesis.