{"orpha":294927,"name":"Non-syndromic intercalary limb defects","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Non-syndromic intercalary meromelia"],"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-294927/","orphanet_url":"https://www.orpha.net/en/disease/detail/294927","names":{"fr":{"name":"Anomalie réductionnelle intercalaire des membres non syndromique","synonyms":["Méromélie intercalaire non syndromique"]},"de":{"name":"Extremitätendefekt, interkalarer, nicht-syndromaler","synonyms":["Meromelie, interkalare, nicht-syndromale"]},"es":{"name":"Defectos intercalares de las extremidades no sindrómicos","synonyms":["Meromelia intercalar no sindrómica"]},"it":{"name":"Difetti intercalari degli arti non sindromici","synonyms":["Meromelia intercalare","Meromelia intercalare non sindromica"]},"nl":{"name":"Niet-syndromale intercalaire ledemaatdefecten","synonyms":["Niet-syndromale intercalaire meromelie"]},"pt":{"name":"Defeitos intercalares dos membros não-sindrómico","synonyms":["Meromelia intercalar não-sindrómica"]},"pl":{"name":"Niesyndromiczne wady środkowego odcinka kończyn","synonyms":["Non-syndromic intercalary meromelia"]},"cs":{"name":"Interkalární defekty končetin","synonyms":["Interkalární meromelie"]},"uk":{"name":"Несиндромальні інтеркалярні дефекти кінцівок","synonyms":["Несиндромна інтеркалярна меромелія"]},"zh":{"name":"肢体间断性残缺","synonyms":["先天性短骨"]},"tr":{"name":"İnterkalar ekstremite defektleri","synonyms":["İnterkalar meromeli"]}},"xrefs":[{"source":"MONDO","code":"17420","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925014","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93457,"name":"Non-syndromic limb reduction defect","classifications":[147,156,199]}],"children":[{"orpha":294977,"name":"Isolated absence of thigh and lower leg with foot present","type":"Morphological anomaly"},{"orpha":294975,"name":"Isolated absence of upper arm and forearm with hand present","type":"Morphological anomaly"},{"orpha":667589,"name":"Isolated congenital femoral bifurcation","type":"Morphological anomaly"},{"orpha":1987,"name":"Isolated femoral agenesis/hypoplasia","type":"Morphological anomaly"},{"orpha":294973,"name":"Isolated humeral agenesis/hypoplasia","type":"Morphological anomaly"},{"orpha":633228,"name":"Isolated proximal femoral focal deficiency","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}