MeSH Browser

MeSH Supplementary: Hyperostosis corticalis deformans juvenilis
Unique ID: C537701
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537701
Entry Term(s): Chronic Congenital Idiopathic Hyperphosphatasemia; Familial Idiopathic Hyperphosphatasemia; Familial Osteoectasia; Hyperphosphatasemia with Bone Disease; Hyperphosphatasemia, chronic congenital idiopathic; Hyperphosphatasia, familial idiopathic; Idiopathic Hyperphosphatasia; Juvenile Paget Disease; Juvenile Paget's Disease; Osteochalasia Desmalis Familiaris; Osteoectasia with Hyperphosphatasia; Osteoectasia, familial; Paget disease of bone 5, juvenile-onset
Registry Number: 0
Heading Mapped to: *Osteitis Deformans
Frequency: 23
Note: A juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Symptoms are variable and may appear in infancy or later childhood, they include short stature, progressive long bone deformities, fractures, vertebral collapse, enlarged skull, and HYPEROSTOSIS; and SENSORINEURAL HEARING LOSS. It is caused by mutations in the OSTEOPROTEGERIN (TNFRSF11B) gene. OMIM: 239000
Date of Entry: 2010/08/25
Revision Date: 2019/06/24

Hyperostosis corticalis deformans juvenilis MeSH Supplementary Concept Data 2023