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Disease Ontology Browser
Paget's disease of bone 5 (DOID:0081368)
Alliance: disease page
Synonyms: Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; Juvenile Paget disease; Paget disease of bone-5
Alt IDs: OMIM:239000, ORDO:2801
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory