{"orpha":207101,"name":"Qualitative or quantitative defects of perlecan","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-207101/","orphanet_url":"https://www.orpha.net/en/disease/detail/207101","names":{"fr":{"name":"Anomalie qualitative ou quantitative du perlecan"},"de":{"name":"Perlecan, qualitative oder quantitative Defekte"},"es":{"name":"Defectos cualitativos o cuantitativos del perlecano"},"it":{"name":"Deficit qualitativi o quantitativi di perlecano"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van perlecan"},"pt":{"name":"Deficiências do perlecano qualitativas ou quantitativas"},"pl":{"name":"Defekty jakościowe lub ilościowe perlekanu"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty perlekanu"},"uk":{"name":"Якісні або кількісні дефекти перлекану"},"zh":{"name":"基底膜蛋白多糖的定性或定量缺陷"},"tr":{"name":"Perlecan kalitatif veya kantitatif defektleri"}},"xrefs":[{"source":"MONDO","code":"0016151","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16151","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680831","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207049,"name":"Qualitative or quantitative protein defects in neuromuscular diseases","classifications":[156]}],"children":[{"orpha":800,"name":"Schwartz-Jampel syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}