{"orpha":424925,"name":"Qualitative or quantitative defects of Torsin-1A-interacting protein 1","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-424925/","orphanet_url":"https://www.orpha.net/en/disease/detail/424925","names":{"fr":{"name":"Anomalie qualitative ou quantitative de la Torsin-1A-interacting protein 1"},"de":{"name":"Torsion-1A-interagierendes Protein 1, qualitative oder quantitative Defekte"},"es":{"name":"Defectos cualitativos o cuantitativos de la proteína 1 de interacción torsina-1A"},"it":{"name":"Difetti qualitativi o quantitativi di Tor1AIP1"},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van Torsine-1A-interagerend proteïne 1"},"pt":{"name":"Defeitos qualitativos ou quantitativos do polipeptídeo 1B associado à lâmina"},"pl":{"name":"Jakościowe i ilościowe wady białka 1 oddziałującego z torsyną 1A"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty Torsin-1A-interagujícího proteinu 1"},"uk":{"name":"Якісні або кількісні дефекти білка 1, що взаємодіє з торсином-1А"},"zh":{"name":"Torsin-1A-互作蛋白1质量或数量缺陷"},"tr":{"name":"Torsin-1A-etkileşimli protein 1'in kalitatif veya kantitatif defektleri"}},"xrefs":[{"source":"MONDO","code":"18529","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681207","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":424261,"name":"TOR1AIP1-related limb-girdle muscular dystrophy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}