{"id":83571,"date":"2024-11-15T15:39:55","date_gmt":"2024-11-15T06:39:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83571"},"modified":"2026-03-04T12:59:40","modified_gmt":"2026-03-04T03:59:40","slug":"14q24-1-q24-3-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/","title":{"rendered":"14q24.1-q24.3 \u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605\u2605<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%EF%BC%91_ZFYVE26%E3%80%80%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%E6%80%A7%E7%97%99%E6%80%A7%E5%AF%BE%E9%BA%BB%E7%97%BA15%E5%9E%8B%EF%BC%88Spastic_paraplegia_15_autosomal_recessive_SPG15%EF%BC%89\" >[\uff11_ZFYVE26]\u3000\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa15\u578b\uff08Spastic paraplegia 15, autosomal recessive (SPG15)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%EF%BC%92_GPHN%E3%80%80%E3%83%A2%E3%83%AA%E3%83%96%E3%83%87%E3%83%B3%E8%A3%9C%E5%9B%A0%E5%AD%90%E6%AC%A0%E4%B9%8F%E7%97%87C%E5%9E%8B%EF%BC%88Molybdenum_cofactor_deficiency_C_MOCODC%EF%BC%89\" >[\uff12_GPHN]\u3000\u30e2\u30ea\u30d6\u30c7\u30f3\u88dc\u56e0\u5b50\u6b20\u4e4f\u75c7C\u578b\uff08Molybdenum cofactor deficiency C (MOCODC)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%EF%BC%93_DNAL1%E3%80%80%E5%8E%9F%E7%99%BA%E6%80%A7%E7%B7%9A%E6%AF%9B%E9%81%8B%E5%8B%95%E9%9A%9C%E5%AE%B316%E5%9E%8B%EF%BC%88Ciliary_dyskinesia_primary_16_CILD16%EF%BC%89\" >[\uff13_DNAL1]\u3000\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u969c\u5bb316\u578b\uff08Ciliary dyskinesia, primary, 16 (CILD16)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%EF%BC%94_COQ6%E3%80%80%E5%8E%9F%E7%99%BA%E6%80%A7%E8%A3%9C%E9%85%B5%E7%B4%A0Q10%E6%AC%A0%E4%B9%8F%E7%97%876%E5%9E%8B%EF%BC%88Coenzyme_Q10_deficiency_primary_6_COQ10D6%EF%BC%89\" >[\uff14_COQ6]\u3000\u539f\u767a\u6027\u88dc\u9175\u7d20Q10\u6b20\u4e4f\u75c76\u578b\uff08Coenzyme Q10 deficiency, primary, 6 (COQ10D6)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%EF%BC%95_ENTPD5%E3%80%80%E9%80%B2%E8%A1%8C%E6%80%A7%E8%82%9D%E8%85%8E%E7%97%87%E3%81%8A%E3%82%88%E3%81%B3%E8%82%9D%E7%B4%B0%E8%83%9E%E8%85%AB%E7%98%8D%E7%99%BA%E7%94%9F%EF%BC%88Progressive_hepatorenalpathy_with_hepatocellular_oncogenesis%EF%BC%89\" >[\uff15_ENTPD5]\u3000\u9032\u884c\u6027\u809d\u814e\u75c7\u304a\u3088\u3073\u809d\u7d30\u80de\u816b\u760d\u767a\u751f\uff08Progressive hepatorenalpathy with hepatocellular oncogenesis\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%EF%BC%96_ABCD4%E3%80%80%E3%83%A1%E3%83%81%E3%83%AB%E3%83%9E%E3%83%AD%E3%83%B3%E9%85%B8%E5%B0%BF%E7%97%87%E3%81%8A%E3%82%88%E3%81%B3%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87cblJ%E5%9E%8B%EF%BC%88Methylmalonic_aciduria_and_homocystinuria_type_cblJ_MAHCJ%EF%BC%89\" >[\uff16_ABCD4]\u3000\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5c3f\u75c7\u304a\u3088\u3073\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7cblJ\u578b\uff08Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%EF%BC%97_TTLL5%E3%80%80%E5%86%86%E9%8C%90%E6%9D%86%E4%BD%93%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC19%E5%9E%8B%EF%BC%88Cone-rod_dystrophy_19_CORD19%EF%BC%89\" >[\uff17_TTLL5]\u3000\u5186\u9310\u6746\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc19\u578b\uff08Cone-rod dystrophy 19 (CORD19)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%EF%BC%98_IRF2BPL%E3%80%80%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E9%9A%9C%E5%AE%B3%EF%BC%88%E9%80%80%E8%A1%8C%E3%80%81%E7%95%B0%E5%B8%B8%E9%81%8B%E5%8B%95%E3%80%81%E8%A8%80%E8%AA%9E%E5%96%AA%E5%A4%B1%E3%80%81%E3%81%91%E3%81%84%E3%82%8C%E3%82%93%E3%82%92%E4%BC%B4%E3%81%86%EF%BC%89%EF%BC%88Neurodevelopmental_disorder_with_regression_abnormal_movements_loss_of_speech_and_seizures_NEDAMSS%EF%BC%89\" >[\uff18_IRF2BPL]\u3000\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff08\u9000\u884c\u3001\u7570\u5e38\u904b\u52d5\u3001\u8a00\u8a9e\u55aa\u5931\u3001\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\uff09\uff08Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%EF%BC%99_POMT2%E3%80%80%E7%AD%8B%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC-%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%82%B0%E3%83%AA%E3%82%AB%E3%83%8E%E3%83%91%E3%83%81%E3%83%BC%EF%BC%88%E8%84%B3%E3%81%8A%E3%82%88%E3%81%B3%E7%9C%BC%E3%81%AE%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%81%86%E5%85%88%E5%A4%A9%E6%80%A7A2%E5%9E%8B%EF%BC%89%EF%BC%88Muscular_dystrophy-dystroglycanopathy_congenital_with_brain_and_eye_anomalies_A2_MDDGA2%EF%BC%89\" >[\uff19_POMT2]\u3000\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc-\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\uff08\u8133\u304a\u3088\u3073\u773c\u306e\u7570\u5e38\u3092\u4f34\u3046\u5148\u5929\u6027A2\u578b\uff09\uff08Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E5%BA%A7%E3%81%AB%E3%81%82%E3%82%8B%E7%96%BE%E6%82%A3%E3%81%AB%E9%96%A2%E4%B8%8E%E3%81%99%E3%82%8B%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%8C%E9%AB%98%E3%81%84%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span>\u3053\u306e\u907a\u4f1d\u5b50\u5ea7\u306b\u3042\u308b\u75be\u60a3\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u907a\u4f1d\u5b50<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q24.1q24.3-1024x20.png\" alt=\"14q24.1q24.3\" class=\"wp-image-91888\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-table aligncenter\"><table><tbody><tr><td class=\"has-text-align-center\" data-align=\"center\"><strong>S\/N<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u907a\u4f1d\u5b50\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong><strong>\u95a2\u9023\u75be\u60a3<\/strong><\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong><strong>Associated disease description(s)<\/strong><\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff11<\/td><td class=\"has-text-align-center\" data-align=\"center\">ZFYVE26<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa15\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Spastic paraplegia 15, autosomal recessive (SPG15)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff12<\/td><td class=\"has-text-align-center\" data-align=\"center\">GPHN<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30e2\u30ea\u30d6\u30c7\u30f3\u88dc\u56e0\u5b50\u6b20\u4e4f\u75c7C\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Molybdenum cofactor deficiency C (MOCODC)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff13<\/td><td class=\"has-text-align-center\" data-align=\"center\">DNAL1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u969c\u5bb316\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Ciliary dyskinesia, primary, 16 (CILD16)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff14<\/td><td class=\"has-text-align-center\" data-align=\"center\">COQ6<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u539f\u767a\u6027\u88dc\u9175\u7d20Q10\u6b20\u4e4f\u75c76\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Coenzyme Q10 deficiency, primary, 6 (COQ10D6)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff15<\/td><td class=\"has-text-align-center\" data-align=\"center\">ENTPD5<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u9032\u884c\u6027\u809d\u814e\u75c7\u304a\u3088\u3073\u809d\u7d30\u80de\u816b\u760d\u767a\u751f<\/td><td class=\"has-text-align-center\" data-align=\"center\">Progressive hepatorenalpathy with hepatocellular oncogenesis<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff16<\/td><td class=\"has-text-align-center\" data-align=\"center\">ABCD4<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5c3f\u75c7\u304a\u3088\u3073\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7cblJ\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff17<\/td><td class=\"has-text-align-center\" data-align=\"center\">TTLL5<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5186\u9310\u6746\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc19\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">Cone-rod dystrophy 19 (CORD19)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff18<\/td><td class=\"has-text-align-center\" data-align=\"center\">IRF2BPL<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff08\u9000\u884c\u3001\u7570\u5e38\u904b\u52d5\u3001\u8a00\u8a9e\u55aa\u5931\u3001\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS)<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">\uff19<\/td><td class=\"has-text-align-center\" data-align=\"center\">POMT2<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc-\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\uff08\u8133\u304a\u3088\u3073\u773c\u306e\u7570\u5e38\u3092\u4f34\u3046\u5148\u5929\u6027A2\u578b\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"833\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromo14.png\" alt=\"chromo14\" class=\"wp-image-91907\"\/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%91_ZFYVE26%E3%80%80%E5%B8%B8%E6%9F%93%E8%89%B2%E4%BD%93%E6%BD%9C%E6%80%A7%E9%81%BA%E4%BC%9D%E6%80%A7%E7%97%99%E6%80%A7%E5%AF%BE%E9%BA%BB%E7%97%BA15%E5%9E%8B%EF%BC%88Spastic_paraplegia_15_autosomal_recessive_SPG15%EF%BC%89\"><\/span>[\uff11_ZFYVE26]\u3000\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa15\u578b\uff08Spastic paraplegia 15, autosomal recessive (SPG15)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q24.1q24.3-1024x20.png\" alt=\"14q24.1q24.3\" class=\"wp-image-91888\"\/><\/figure><\/div>\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>chromosomal region, gene location\u2191, symptoms management prognosis anyhelpfulinfo<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%92_GPHN%E3%80%80%E3%83%A2%E3%83%AA%E3%83%96%E3%83%87%E3%83%B3%E8%A3%9C%E5%9B%A0%E5%AD%90%E6%AC%A0%E4%B9%8F%E7%97%87C%E5%9E%8B%EF%BC%88Molybdenum_cofactor_deficiency_C_MOCODC%EF%BC%89\"><\/span>[\uff12_GPHN]\u3000\u30e2\u30ea\u30d6\u30c7\u30f3\u88dc\u56e0\u5b50\u6b20\u4e4f\u75c7C\u578b\uff08Molybdenum cofactor deficiency C (MOCODC)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q24.1q24.3-1024x20.png\" alt=\"14q24.1q24.3\" class=\"wp-image-91888\"\/><\/figure><\/div>\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>chromosomal region, gene location\u2191, symptoms management prognosis anyhelpfulinfo<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%93_DNAL1%E3%80%80%E5%8E%9F%E7%99%BA%E6%80%A7%E7%B7%9A%E6%AF%9B%E9%81%8B%E5%8B%95%E9%9A%9C%E5%AE%B316%E5%9E%8B%EF%BC%88Ciliary_dyskinesia_primary_16_CILD16%EF%BC%89\"><\/span>[\uff13_DNAL1]\u3000\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u969c\u5bb316\u578b\uff08Ciliary dyskinesia, primary, 16 (CILD16)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q24.1q24.3-1024x20.png\" alt=\"14q24.1q24.3\" class=\"wp-image-91888\"\/><\/figure><\/div>\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>chromosomal region, gene location\u2191, symptoms management prognosis anyhelpfulinfo<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%94_COQ6%E3%80%80%E5%8E%9F%E7%99%BA%E6%80%A7%E8%A3%9C%E9%85%B5%E7%B4%A0Q10%E6%AC%A0%E4%B9%8F%E7%97%876%E5%9E%8B%EF%BC%88Coenzyme_Q10_deficiency_primary_6_COQ10D6%EF%BC%89\"><\/span>[\uff14_COQ6]\u3000\u539f\u767a\u6027\u88dc\u9175\u7d20Q10\u6b20\u4e4f\u75c76\u578b\uff08Coenzyme Q10 deficiency, primary, 6 (COQ10D6)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q24.1q24.3-1024x20.png\" alt=\"14q24.1q24.3\" class=\"wp-image-91888\"\/><\/figure><\/div>\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>chromosomal region, gene location\u2191, symptoms management prognosis anyhelpfulinfo<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%95_ENTPD5%E3%80%80%E9%80%B2%E8%A1%8C%E6%80%A7%E8%82%9D%E8%85%8E%E7%97%87%E3%81%8A%E3%82%88%E3%81%B3%E8%82%9D%E7%B4%B0%E8%83%9E%E8%85%AB%E7%98%8D%E7%99%BA%E7%94%9F%EF%BC%88Progressive_hepatorenalpathy_with_hepatocellular_oncogenesis%EF%BC%89\"><\/span>[\uff15_ENTPD5]\u3000\u9032\u884c\u6027\u809d\u814e\u75c7\u304a\u3088\u3073\u809d\u7d30\u80de\u816b\u760d\u767a\u751f\uff08Progressive hepatorenalpathy with hepatocellular oncogenesis\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q24.1q24.3-1024x20.png\" alt=\"14q24.1q24.3\" class=\"wp-image-91888\"\/><\/figure><\/div>\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>chromosomal region, gene location\u2191, symptoms management prognosis anyhelpfulinfo<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%96_ABCD4%E3%80%80%E3%83%A1%E3%83%81%E3%83%AB%E3%83%9E%E3%83%AD%E3%83%B3%E9%85%B8%E5%B0%BF%E7%97%87%E3%81%8A%E3%82%88%E3%81%B3%E3%83%9B%E3%83%A2%E3%82%B7%E3%82%B9%E3%83%81%E3%83%B3%E5%B0%BF%E7%97%87cblJ%E5%9E%8B%EF%BC%88Methylmalonic_aciduria_and_homocystinuria_type_cblJ_MAHCJ%EF%BC%89\"><\/span>[\uff16_ABCD4]\u3000\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5c3f\u75c7\u304a\u3088\u3073\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7cblJ\u578b\uff08Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q24.1q24.3-1024x20.png\" alt=\"14q24.1q24.3\" class=\"wp-image-91888\"\/><\/figure><\/div>\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>chromosomal region, gene location\u2191, symptoms management prognosis anyhelpfulinfo<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<p><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%97_TTLL5%E3%80%80%E5%86%86%E9%8C%90%E6%9D%86%E4%BD%93%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC19%E5%9E%8B%EF%BC%88Cone-rod_dystrophy_19_CORD19%EF%BC%89\"><\/span>[\uff17_TTLL5]\u3000\u5186\u9310\u6746\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc19\u578b\uff08Cone-rod dystrophy 19 (CORD19)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q24.1q24.3-1024x20.png\" alt=\"14q24.1q24.3\" class=\"wp-image-91888\"\/><\/figure><\/div>\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>chromosomal region, gene location\u2191, symptoms management prognosis anyhelpfulinfo<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%98_IRF2BPL%E3%80%80%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E9%9A%9C%E5%AE%B3%EF%BC%88%E9%80%80%E8%A1%8C%E3%80%81%E7%95%B0%E5%B8%B8%E9%81%8B%E5%8B%95%E3%80%81%E8%A8%80%E8%AA%9E%E5%96%AA%E5%A4%B1%E3%80%81%E3%81%91%E3%81%84%E3%82%8C%E3%82%93%E3%82%92%E4%BC%B4%E3%81%86%EF%BC%89%EF%BC%88Neurodevelopmental_disorder_with_regression_abnormal_movements_loss_of_speech_and_seizures_NEDAMSS%EF%BC%89\"><\/span>[\uff18_IRF2BPL]\u3000\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff08\u9000\u884c\u3001\u7570\u5e38\u904b\u52d5\u3001\u8a00\u8a9e\u55aa\u5931\u3001\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\uff09\uff08Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q24.1q24.3-1024x20.png\" alt=\"14q24.1q24.3\" class=\"wp-image-91888\"\/><\/figure><\/div>\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>chromosomal region, gene location\u2191, symptoms management prognosis anyhelpfulinfo<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%EF%BC%99_POMT2%E3%80%80%E7%AD%8B%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC-%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%82%B0%E3%83%AA%E3%82%AB%E3%83%8E%E3%83%91%E3%83%81%E3%83%BC%EF%BC%88%E8%84%B3%E3%81%8A%E3%82%88%E3%81%B3%E7%9C%BC%E3%81%AE%E7%95%B0%E5%B8%B8%E3%82%92%E4%BC%B4%E3%81%86%E5%85%88%E5%A4%A9%E6%80%A7A2%E5%9E%8B%EF%BC%89%EF%BC%88Muscular_dystrophy-dystroglycanopathy_congenital_with_brain_and_eye_anomalies_A2_MDDGA2%EF%BC%89\"><\/span>[\uff19_POMT2]\u3000\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc-\u30b8\u30b9\u30c8\u30ed\u30b0\u30ea\u30ab\u30ce\u30d1\u30c1\u30fc\uff08\u8133\u304a\u3088\u3073\u773c\u306e\u7570\u5e38\u3092\u4f34\u3046\u5148\u5929\u6027A2\u578b\uff09\uff08Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)\uff09<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q24.1q24.3-1024x20.png\" alt=\"14q24.1q24.3\" class=\"wp-image-91888\"\/><\/figure><\/div>\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>chromosomal region, gene location\u2191, symptoms management prognosis anyhelpfulinfo<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. 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