{"orpha":209044,"name":"Qualitative or quantitative defects of alphaB-cristallin","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-209044/","orphanet_url":"https://www.orpha.net/en/disease/detail/209044","names":{"fr":{"name":"Anomalie qualitative ou quantitative de l'alphaB-cristalline"},"de":{"name":"Alpha B-Crystallin, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de alfaB-cristalina"},"it":{"name":"Alterazioni qualitative o quantitative di alfa B-cristallina"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van alfa-B-crystalline"},"pt":{"name":"Deficiências qualitativas e quantitativas da alfaB-cristalina"},"pl":{"name":"Defekty jakościowe lub ilościowe alfaB-krystaliny"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty alfaB-crystallinu"},"uk":{"name":"Якісні або кількісні дефекти альфаВ-кристаліну"},"zh":{"name":"αB-晶体蛋白定性或定量缺陷"},"tr":{"name":"AlfaB-kristalinin kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"0016188","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16188","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680838","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":209038,"name":"Qualitative or quantitative defects of myofibrillar proteins","classifications":[156]}],"children":[{"orpha":98910,"name":"Alpha-crystallinopathy","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}