{"orpha":674499,"name":"Proteoglycan-related bone disorder","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-674499/","orphanet_url":"https://www.orpha.net/en/disease/detail/674499","names":{"fr":{"name":"Maladie osseuse liée au protéoglycane"},"de":{"name":"Knochenkrankheit, Proteoglykan-assoziierte"},"es":{"name":"Trastorno óseo asociado a proteoglicanos"},"it":{"name":"Malattia scheletrica correlata al proteoglicano"},"nl":{"name":"Proteoglycaangerelateerde botaandoening"},"pt":{"name":"Doença óssea relacionada com proteoglicanos"},"pl":{"name":"Choroba kości związane z proteoglikanami"},"cs":{"name":"Kostní porucha související s proteoglykanem"},"uk":{"name":"Захворювання кісток, повязані з протеогліканами"}},"xrefs":[{"source":"UMLS","code":"C5925088","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93424,"name":"OBSOLETE: Perlecan-related bone disorder","status":"inactive"},{"type":"Referred to","orpha":364817,"name":"OBSOLETE: Aggrecan-related bone disorder","status":"inactive"},{"type":"Referred to","orpha":435808,"name":"OBSOLETE: ACAN-related skeletal dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364803,"name":"Rare bone disease related to a common gene or pathway defect","classifications":[156]}],"children":[{"orpha":1865,"name":"Dyssegmental dysplasia, Silverman-Handmaker type","type":"Disease"},{"orpha":251262,"name":"Familial osteochondritis dissecans","type":"Disease"},{"orpha":800,"name":"Schwartz-Jampel syndrome","type":"Disease"},{"orpha":435804,"name":"Short stature-advanced bone age-early-onset osteoarthritis syndrome","type":"Disease"},{"orpha":171866,"name":"Spondyloepimetaphyseal dysplasia, aggrecan type","type":"Disease"},{"orpha":93283,"name":"Spondyloepiphyseal dysplasia, Kimberley type","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}