Paget's disease of bone 5

Summary

DOID:0081368 - Paget's disease of bone 5

Disease Ontology 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.

Synonyms: Familial osteoectasia, Hereditary hyperphosphatasia, Hyperostosis corticalis deformans juvenilis, Juvenile Paget disease, Paget disease of bone-5

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tnfrsf11b

MIM:

MIM:239000 - PAGET DISEASE OF BONE 5, JUVENILE-ONSET; PDB5

MIM:239000 - PAGET DISEASE OF BONE 5, JUVENILE-ONSET; PDB5

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), Paget's disease of bone (is_a)