{"orpha":207090,"name":"Qualitative or quantitative defects of collagen 6","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-207090/","orphanet_url":"https://www.orpha.net/en/disease/detail/207090","names":{"fr":{"name":"Anomalie qualitative ou quantitative du collagène 6"},"de":{"name":"Qualitative oder quantitative Defekte von Kollagen 6"},"es":{"name":"Defectos cualitativos o cuantitativos del colágeno 6"},"it":{"name":"Deficit qualitativi o quantitativi di collagene 6"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van collageen 6"},"pt":{"name":"Deficiências qualitativas ou quantitativas do colagéneo-6"},"pl":{"name":"Defekty jakościowe lub ilościowe kolagenu 6"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty kolagenu 6"},"uk":{"name":"Якісні або кількісні дефекти колагену 6"},"zh":{"name":"胶原6的定性或定量缺陷"},"tr":{"name":"Kolajen 6'nın kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"UMLS","code":"C5680804","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":206659,"name":"OBSOLETE: Non-dystrophic myopathy with collagen 6 anomaly","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207049,"name":"Qualitative or quantitative protein defects in neuromuscular diseases","classifications":[156]}],"children":[{"orpha":646098,"name":"Collagen VI-related congenital muscular dystrophy","type":"Clinical group"},{"orpha":289380,"name":"Myosclerosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}