"2499" . . "\u062F\u0627\u0621 \u0627\u0644\u062A\u062D\u0648\u0644 \u0627\u0644\u0648\u0631\u0627\u0645\u064A \u0627\u0644\u063A\u0636\u0631\u0648\u0641\u064A (\u0628\u0627\u0644\u0625\u0646\u062C\u0644\u064A\u0632\u064A\u0629: Metachondromatosis) \u0645\u0631\u0636 \u062C\u064A\u0646\u064A \u062C\u0633\u0645\u064A \u0645\u0647\u064A\u0645\u0646 \u062C\u0632\u0626\u064A \u0627\u0644\u0646\u0641\u0648\u0630\u064A\u0629 \u064A\u0624\u062B\u0631 \u0641\u064A \u0646\u0645\u0648 \u0627\u0644\u0639\u0638\u0627\u0645 \u0648\u064A\u0624\u062F\u064A \u0625\u0644\u0649 \u0638\u0647\u0648\u0631 \u0646\u0627\u0645\u064A\u0627\u062A \u0639\u0638\u0645\u064A\u0629 \u0623\u0633\u0627\u0633\u064B\u0627 \u0641\u064A \u0627\u0644\u064A\u062F\u064A\u0646 \u0648\u0627\u0644\u0642\u062F\u0645\u064A\u0646 \u0648\u0623\u0648\u0631\u0627\u0645 \u063A\u0636\u0631\u0648\u0641\u064A\u0629 \u062F\u0627\u062E\u0644\u064A\u0629 \u0641\u064A \u0643\u0631\u062F\u0648\u0633 \u0627\u0644\u0639\u0638\u0627\u0645 \u0627\u0644\u0637\u0648\u064A\u0644\u0629 \u0648\u0627\u0644\u0639\u0631\u0641\u064A\u0646 \u0627\u0644\u062D\u0631\u0642\u0641\u064A\u064A\u0646. \u062A\u0624\u062B\u0631 \u0647\u0630\u0647 \u0627\u0644\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0639\u0644\u0649 \u0627\u0644\u0639\u0638\u0627\u0645 \u0627\u0644\u0623\u0646\u0628\u0648\u0628\u064A\u0629 \u0639\u0644\u0649 \u0648\u062C\u0647 \u0627\u0644\u062E\u0635\u0648\u0635\u060C \u0644\u0643\u0646\u0647\u0627 \u0642\u062F \u062A\u0635\u064A\u0628 \u0627\u0644\u0641\u0642\u0631\u0627\u062A \u0648\u0627\u0644\u0645\u0641\u0627\u0635\u0644 \u0627\u0644\u0635\u063A\u064A\u0631\u0629 \u0648\u0627\u0644\u0639\u0638\u0627\u0645 \u0627\u0644\u0645\u0633\u0637\u062D\u0629. \u0645\u0646 \u0627\u0644\u0645\u0639\u062A\u0642\u062F \u0623\u0646 \u0647\u0630\u0627 \u0627\u0644\u0645\u0631\u0636 \u064A\u0624\u062B\u0631 \u0639\u0644\u0649 \u0627\u0644\u0625\u0643\u0633\u0648\u0646 4 \u0645\u0646 \u0627\u0644\u0645\u0648\u0631\u062B\u0629 PTPN11\u060C \u0648\u0623\u0646\u0647 \u064A\u062D\u062F\u062B \u0646\u062A\u064A\u062C\u0629 \u062D\u0630\u0641 \u0627\u0644\u0632\u0648\u062C \u0627\u0644\u0642\u0627\u0639\u062F\u064A 11 \u0645\u0627 \u064A\u0633\u0628\u0628 \u0637\u0641\u0631\u0629 \u0627\u0646\u0632\u064A\u0627\u062D \u0627\u0644\u0625\u0637\u0627\u0631 \u0648\u0637\u0641\u0631\u0629\u064B \u0644\u0627\u063A\u064A\u0629. \u0627\u0643\u062A\u064F\u0634\u0641 \u0647\u0630\u0627 \u0627\u0644\u0645\u0631\u0636 \u0639\u0644\u0649 \u064A\u062F\u064A \u0627\u0644\u0637\u0628\u064A\u0628 \u0627\u0644\u0641\u0631\u0646\u0633\u064A \u0628\u064A\u064A\u0631 \u0645\u0627\u0631\u0648\u062A\u0648\u0643\u0633 \u0648\u0623\u0637\u0644\u0642\u062A \u0639\u0644\u064A\u0647 \u0647\u0630\u0647 \u0627\u0644\u062A\u0633\u0645\u064A\u0629 \u0639\u0627\u0645 1971\u060C \u0625\u0630 \u0644\u0627\u062D\u0638 \u0648\u062C\u0648\u062F \u0639\u0627\u0626\u0644\u062A\u064A\u0646 \u0628\u062E\u0635\u0627\u0626\u0635 \u0639\u0638\u0645\u064A\u0629 \u0634\u0639\u0627\u0639\u064A\u0629 \u0645\u0639 \u0623\u0639\u0631\u0627\u0646 \u0639\u0638\u0645\u064A\u0629 \u0648\u062F\u0627\u0621 \u0623\u0648\u0644\u064A\u064A\u0631. \u0642\u0627\u062F\u062A \u0645\u0631\u0627\u0642\u0628\u0629 \u0625\u062D\u062F\u0649 \u0647\u0630\u0647 \u0627\u0644\u0639\u0627\u0626\u0644\u0627\u062A \u0627\u0644\u062A\u064A \u062A\u062A\u0636\u0645\u0646 \u062E\u0645\u0633\u0629 \u0645\u0635\u0627\u0628\u064A\u0646 \u0625\u0644\u0649 \u062A\u062D\u062F\u064A\u062F \u0627\u0644\u0646\u0645\u0637 \u0627\u0644\u0648\u0631\u0627\u062B\u064A \u0627\u0644\u062C\u0633\u0645\u064A \u0627\u0644\u0642\u0627\u0647\u0631 \u0644\u0644\u0645\u0631\u0636. \u0647\u0646\u0627\u0643 \u0623\u0642\u0644 \u0645\u0646 40 \u062D\u0627\u0644\u0629\u064B \u0645\u0643\u062A\u0634\u0641\u0629\u064B \u0645\u0646 \u0627\u0644\u0645\u0631\u0636 \u062D\u062A\u0649 \u0627\u0644\u0648\u0642\u062A \u0627\u0644\u062D\u0627\u0644\u064A."@ar . . . "156250"^^ . "\u0397 \u03BC\u03B5\u03C4\u03B1\u03C7\u03BF\u03BD\u03B4\u03C1\u03C9\u03BC\u03AC\u03C4\u03C9\u03C3\u03B7 \u03B5\u03AF\u03BD\u03B1\u03B9 \u03BC\u03B9\u03B1 , \u03C0\u03BF\u03C5 \u03B5\u03C0\u03B7\u03C1\u03B5\u03AC\u03B6\u03B5\u03B9 \u03C4\u03B7\u03BD \u03B1\u03BD\u03AC\u03C0\u03C4\u03C5\u03BE\u03B7 \u03C4\u03C9\u03BD \u03BF\u03C3\u03C4\u03CE\u03BD, \u03BF\u03B4\u03B7\u03B3\u03CE\u03BD\u03C4\u03B1\u03C2 \u03C3\u03B5 \u03C0\u03BF\u03BB\u03BB\u03B1\u03C0\u03BB\u03AC \u03BA\u03B1\u03B9 . \u0391\u03C5\u03C4\u03CC\u03C2 \u03BF \u03CC\u03B3\u03BA\u03BF\u03C2 \u03C3\u03CD\u03BD\u03B4\u03C1\u03BF\u03BC\u03BF \u03B5\u03C0\u03B7\u03C1\u03B5\u03AC\u03B6\u03B5\u03B9 \u03BA\u03C5\u03C1\u03AF\u03C9\u03C2 \u03C4\u03B1 , \u03B1\u03BD \u03BA\u03B1\u03B9 \u03BC\u03C0\u03BF\u03C1\u03B5\u03AF \u03B5\u03C0\u03AF\u03C3\u03B7\u03C2 \u03BD\u03B1 \u03B1\u03C6\u03BF\u03C1\u03AC \u03C4\u03BF\u03C5\u03C2 \u03C3\u03C0\u03BF\u03BD\u03B4\u03CD\u03BB\u03BF\u03C5\u03C2, \u03BC\u03B9\u03BA\u03C1\u03AD\u03C2 \u03B1\u03C1\u03B8\u03C1\u03CE\u03C3\u03B5\u03B9\u03C2 \u03BA\u03B1\u03B9 \u03B5\u03C0\u03AF\u03C0\u03B5\u03B4\u03B1 \u03BF\u03C3\u03C4\u03AC."@el . "Q78.4"@en . . "Metachondromatosis is an autosomal dominant, incompletely penetrant genetic disease affecting the growth of bones, leading to exostoses primarily in the hands and feet as well as enchondromas of long bone metaphyses and iliac crests. This syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones. The disease is thought to affect exon 4 of the PTPN11 gene. Metachondromatosis is believed to be caused by an 11 base pair deletion resulting in a frameshift and nonsense mutation. The disease was discovered and named in 1971 by Pierre Maroteaux, a French physician, when he observed two families with skeletal radiologic features with exostoses and Ollier disease. The observation of one family with five affected people led to the identification of"@en . . "32116" . . "METCDS"@en . . . . . . . . . . . . . "156250"^^ . . . . . . . . . . "Metachondromatosis"@en . "2927899"^^ . . "Q78.4" . "Metachondromatosis has an autosomal dominant pattern of inheritance."@en . . "\u0627\u0644\u062A\u062D\u0648\u0644 \u0627\u0644\u0648\u0631\u0627\u0645\u064A \u0627\u0644\u063A\u0636\u0631\u0648\u0641\u064A"@ar . . . "11495"^^ . "\u0397 \u03BC\u03B5\u03C4\u03B1\u03C7\u03BF\u03BD\u03B4\u03C1\u03C9\u03BC\u03AC\u03C4\u03C9\u03C3\u03B7 \u03B5\u03AF\u03BD\u03B1\u03B9 \u03BC\u03B9\u03B1 , \u03C0\u03BF\u03C5 \u03B5\u03C0\u03B7\u03C1\u03B5\u03AC\u03B6\u03B5\u03B9 \u03C4\u03B7\u03BD \u03B1\u03BD\u03AC\u03C0\u03C4\u03C5\u03BE\u03B7 \u03C4\u03C9\u03BD \u03BF\u03C3\u03C4\u03CE\u03BD, \u03BF\u03B4\u03B7\u03B3\u03CE\u03BD\u03C4\u03B1\u03C2 \u03C3\u03B5 \u03C0\u03BF\u03BB\u03BB\u03B1\u03C0\u03BB\u03AC \u03BA\u03B1\u03B9 . \u0391\u03C5\u03C4\u03CC\u03C2 \u03BF \u03CC\u03B3\u03BA\u03BF\u03C2 \u03C3\u03CD\u03BD\u03B4\u03C1\u03BF\u03BC\u03BF \u03B5\u03C0\u03B7\u03C1\u03B5\u03AC\u03B6\u03B5\u03B9 \u03BA\u03C5\u03C1\u03AF\u03C9\u03C2 \u03C4\u03B1 , \u03B1\u03BD \u03BA\u03B1\u03B9 \u03BC\u03C0\u03BF\u03C1\u03B5\u03AF \u03B5\u03C0\u03AF\u03C3\u03B7\u03C2 \u03BD\u03B1 \u03B1\u03C6\u03BF\u03C1\u03AC \u03C4\u03BF\u03C5\u03C2 \u03C3\u03C0\u03BF\u03BD\u03B4\u03CD\u03BB\u03BF\u03C5\u03C2, \u03BC\u03B9\u03BA\u03C1\u03AD\u03C2 \u03B1\u03C1\u03B8\u03C1\u03CE\u03C3\u03B5\u03B9\u03C2 \u03BA\u03B1\u03B9 \u03B5\u03C0\u03AF\u03C0\u03B5\u03B4\u03B1 \u03BF\u03C3\u03C4\u03AC."@el . . . . . . . . "Metachondromatosis"@en . "Metachondromatose"@de . . "2499"^^ . . . . . . . . . . . "32116"^^ . "1090885721"^^ . "\u039C\u03B5\u03C4\u03B1\u03C7\u03BF\u03BD\u03B4\u03C1\u03C9\u03BC\u03AC\u03C4\u03C9\u03C3\u03B7"@el . . . "Metachondromatosis is an autosomal dominant, incompletely penetrant genetic disease affecting the growth of bones, leading to exostoses primarily in the hands and feet as well as enchondromas of long bone metaphyses and iliac crests. This syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones. The disease is thought to affect exon 4 of the PTPN11 gene. Metachondromatosis is believed to be caused by an 11 base pair deletion resulting in a frameshift and nonsense mutation. The disease was discovered and named in 1971 by Pierre Maroteaux, a French physician, when he observed two families with skeletal radiologic features with exostoses and Ollier disease. The observation of one family with five affected people led to the identification of the disease as autosomal dominant. There have been less than 40 cases of the disease reported to date."@en . . "Die Metachondromatose ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Enchondromen, Exostosen und Osteochondrom artigen Ver\u00E4nderungen. Synonyme sind: MC; METCDS, Enchondromatose Typ III nach Spranger Die Erstbeschreibung stammt aus dem Jahre 1971 durch Pierre Maroteaux."@de . . . . "\u062F\u0627\u0621 \u0627\u0644\u062A\u062D\u0648\u0644 \u0627\u0644\u0648\u0631\u0627\u0645\u064A \u0627\u0644\u063A\u0636\u0631\u0648\u0641\u064A (\u0628\u0627\u0644\u0625\u0646\u062C\u0644\u064A\u0632\u064A\u0629: Metachondromatosis) \u0645\u0631\u0636 \u062C\u064A\u0646\u064A \u062C\u0633\u0645\u064A \u0645\u0647\u064A\u0645\u0646 \u062C\u0632\u0626\u064A \u0627\u0644\u0646\u0641\u0648\u0630\u064A\u0629 \u064A\u0624\u062B\u0631 \u0641\u064A \u0646\u0645\u0648 \u0627\u0644\u0639\u0638\u0627\u0645 \u0648\u064A\u0624\u062F\u064A \u0625\u0644\u0649 \u0638\u0647\u0648\u0631 \u0646\u0627\u0645\u064A\u0627\u062A \u0639\u0638\u0645\u064A\u0629 \u0623\u0633\u0627\u0633\u064B\u0627 \u0641\u064A \u0627\u0644\u064A\u062F\u064A\u0646 \u0648\u0627\u0644\u0642\u062F\u0645\u064A\u0646 \u0648\u0623\u0648\u0631\u0627\u0645 \u063A\u0636\u0631\u0648\u0641\u064A\u0629 \u062F\u0627\u062E\u0644\u064A\u0629 \u0641\u064A \u0643\u0631\u062F\u0648\u0633 \u0627\u0644\u0639\u0638\u0627\u0645 \u0627\u0644\u0637\u0648\u064A\u0644\u0629 \u0648\u0627\u0644\u0639\u0631\u0641\u064A\u0646 \u0627\u0644\u062D\u0631\u0642\u0641\u064A\u064A\u0646. \u062A\u0624\u062B\u0631 \u0647\u0630\u0647 \u0627\u0644\u0645\u062A\u0644\u0627\u0632\u0645\u0629 \u0639\u0644\u0649 \u0627\u0644\u0639\u0638\u0627\u0645 \u0627\u0644\u0623\u0646\u0628\u0648\u0628\u064A\u0629 \u0639\u0644\u0649 \u0648\u062C\u0647 \u0627\u0644\u062E\u0635\u0648\u0635\u060C \u0644\u0643\u0646\u0647\u0627 \u0642\u062F \u062A\u0635\u064A\u0628 \u0627\u0644\u0641\u0642\u0631\u0627\u062A \u0648\u0627\u0644\u0645\u0641\u0627\u0635\u0644 \u0627\u0644\u0635\u063A\u064A\u0631\u0629 \u0648\u0627\u0644\u0639\u0638\u0627\u0645 \u0627\u0644\u0645\u0633\u0637\u062D\u0629. \u0645\u0646 \u0627\u0644\u0645\u0639\u062A\u0642\u062F \u0623\u0646 \u0647\u0630\u0627 \u0627\u0644\u0645\u0631\u0636 \u064A\u0624\u062B\u0631 \u0639\u0644\u0649 \u0627\u0644\u0625\u0643\u0633\u0648\u0646 4 \u0645\u0646 \u0627\u0644\u0645\u0648\u0631\u062B\u0629 PTPN11\u060C \u0648\u0623\u0646\u0647 \u064A\u062D\u062F\u062B \u0646\u062A\u064A\u062C\u0629 \u062D\u0630\u0641 \u0627\u0644\u0632\u0648\u062C \u0627\u0644\u0642\u0627\u0639\u062F\u064A 11 \u0645\u0627 \u064A\u0633\u0628\u0628 \u0637\u0641\u0631\u0629 \u0627\u0646\u0632\u064A\u0627\u062D \u0627\u0644\u0625\u0637\u0627\u0631 \u0648\u0637\u0641\u0631\u0629\u064B \u0644\u0627\u063A\u064A\u0629. \u0627\u0643\u062A\u064F\u0634\u0641 \u0647\u0630\u0627 \u0627\u0644\u0645\u0631\u0636 \u0639\u0644\u0649 \u064A\u062F\u064A \u0627\u0644\u0637\u0628\u064A\u0628 \u0627\u0644\u0641\u0631\u0646\u0633\u064A \u0628\u064A\u064A\u0631 \u0645\u0627\u0631\u0648\u062A\u0648\u0643\u0633 \u0648\u0623\u0637\u0644\u0642\u062A \u0639\u0644\u064A\u0647 \u0647\u0630\u0647 \u0627\u0644\u062A\u0633\u0645\u064A\u0629 \u0639\u0627\u0645 1971\u060C \u0625\u0630 \u0644\u0627\u062D\u0638 \u0648\u062C\u0648\u062F \u0639\u0627\u0626\u0644\u062A\u064A\u0646 \u0628\u062E\u0635\u0627\u0626\u0635 \u0639\u0638\u0645\u064A\u0629 \u0634\u0639\u0627\u0639\u064A\u0629 \u0645\u0639 \u0623\u0639\u0631\u0627\u0646 \u0639\u0638\u0645\u064A\u0629 \u0648\u062F\u0627\u0621 \u0623\u0648\u0644\u064A\u064A\u0631. \u0642\u0627\u062F\u062A \u0645\u0631\u0627\u0642\u0628\u0629 \u0625\u062D\u062F\u0649 \u0647\u0630\u0647 \u0627\u0644\u0639\u0627\u0626\u0644\u0627\u062A \u0627\u0644\u062A\u064A \u062A\u062A\u0636\u0645\u0646 \u062E\u0645\u0633\u0629 \u0645\u0635\u0627\u0628\u064A\u0646 \u0625\u0644\u0649 \u062A\u062D\u062F\u064A\u062F \u0627\u0644\u0646\u0645\u0637 \u0627\u0644\u0648\u0631\u0627\u062B\u064A \u0627\u0644\u062C\u0633\u0645\u064A \u0627\u0644\u0642\u0627\u0647\u0631 \u0644\u0644\u0645\u0631\u0636. \u0647\u0646\u0627\u0643 \u0623\u0642\u0644 \u0645\u0646 40 \u062D\u0627\u0644\u0629\u064B \u0645\u0643\u062A\u0634\u0641\u0629\u064B \u0645\u0646 \u0627\u0644\u0645\u0631\u0636 \u062D\u062A\u0649 \u0627\u0644\u0648\u0642\u062A \u0627\u0644\u062D\u0627\u0644\u064A."@ar . . . . . "Metachondromatosis"@en . . "Die Metachondromatose ist eine sehr seltene angeborene Erkrankung mit einer Kombination von Enchondromen, Exostosen und Osteochondrom artigen Ver\u00E4nderungen. Synonyme sind: MC; METCDS, Enchondromatose Typ III nach Spranger Die Erstbeschreibung stammt aus dem Jahre 1971 durch Pierre Maroteaux."@de . . . .