{"orpha":209188,"name":"Qualitative or quantitative defects of emerin","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-209188/","orphanet_url":"https://www.orpha.net/en/disease/detail/209188","names":{"fr":{"name":"Anomalie qualitative ou quantitative de l'émerine"},"de":{"name":"Emerin, qualitative oder quantitative Defekte"},"es":{"name":"Anomalías cualitativas o cuantitativas de la emerina"},"it":{"name":"Difetti qualitativi o quantitativi dell'emerina","synonyms":["Emerinopatia"]},"nl":{"name":"Kwalitatieve of kwantitatieve defecten van emerine"},"pt":{"name":"Deficiências qualitativas e quantitativas de emerina"},"pl":{"name":"Defekty jakościowe lub ilościowe emeryny"},"cs":{"name":"Kvalitativní nebo kvantitativní defekty emerinu"},"uk":{"name":"Якісні або кількісні дефекти емерину"},"zh":{"name":"伊默菌素定性或定量缺陷"},"tr":{"name":"Emerin kalitatif veya kantitatif defekti"}},"xrefs":[{"source":"MONDO","code":"16196","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680833","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":98863,"name":"X-linked Emery-Dreifuss muscular dystrophy","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}