{"id":11722,"date":"2016-05-12T08:07:25","date_gmt":"2016-05-12T00:07:25","guid":{"rendered":"http:\/\/mp.weixin.qq.com\/s?__biz=MzIzMzE4MzU3NA==&mid=504146602&idx=1&sn=f878c14f46daf199fdd435e2dfd726bc#rd"},"modified":"2026-04-03T13:32:55","modified_gmt":"2026-04-03T05:32:55","slug":"5698100","status":"publish","type":"post","link":"https:\/\/www.geneclub.net.cn\/index.php\/2016\/05\/12\/5698100\/","title":{"rendered":"\u54c8\u4f5b\u533b\u5b66\u9662\u6c88\u4ea6\u5e73\u6559\u6388\u8c08\u57fa\u56e0\u8bca\u65ad (\u542bPPT\u53ca\u89e3\u8bf4\uff09"},"content":{"rendered":"

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\u4e2d\u56fdHPO<\/div>\n
\uff08\u7f16\u8005\u6309\uff1aHPO\uff08Human Phenotype Ontology\uff09\u65e8\u5728\u63d0\u4f9b\u4e00\u5957\u63cf\u8ff0\u4eba\u7c7b\u75be\u75c5\u6240\u81f4\u7684\u5f02\u5e38\u8868\u578b\u7684\u6807\u51c6\u8bcd\u8bed\u96c6\uff0c\u5df2\u6536\u5f55\u7ea611000\u4e2a\u8bcd\u6761\uff0c\u6bcf\u4e2a\u8bcd\u6761\u5bf9\u5e94\u4e00\u79cd\u5f02\u5e38\u8868\u578b\uff0cHPO\u5bf9OMIM\u3001Orphanet\u548cDECIPHER\u4e2d\u8bb0\u5f55\u76847000\u591a\u79cd\u9057\u4f20\u75c5\u53ca\u5176\u4ed6\u7ea64000\u79cd\u5e38\u89c1\u75be\u75c5\u63d0\u4f9b\u4e86HPO\u6ce8\u91ca\u3002<\/div>\n
2016\u5e74\u521d\uff0c\u5728\u534e\u5927\u57fa\u56e0\u6768\u7115\u660e\u9662\u58eb\u4e0eHPO\u521b\u59cb\u4ebaPeter Robinson\u6559\u6388\u7684\u63a8\u52a8\u4e0b\uff0c\u6210\u7acb\u4e86\u4e2d\u6587\u4eba\u7c7b\u8868\u578b\u6807\u51c6\u7528\u8bed\u8054\u76df\uff08 CHPO\uff09\u3002\u7531\u534e\u5927\u57fa\u56e0\u56e2\u961f\u3001\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u5b66\u9662\u4f1a\u5458\u5f20\u5dcd\u6559\u6388\u548c\u5357\u52a0\u5dde\u5927\u5b66\u751f\u7269\u4fe1\u606f\u5b66\u4e13\u5bb6\u738b\u51ef\u6559\u6388\u5171\u540c\u7ffb\u8bd1HPO\u8bcd\u6761\u3002\u4e2d\u65e5\u53cb\u597d\u533b\u9662\u987e\u536b\u7ea2\u6559\u6388\uff0c\u5317\u4eac\u534f\u548c\u533b\u5b66\u9662\u9ec4\u5c1a\u5fd7\u6559\u6388\u4ed8\u51fa\u4e86\u5f88\u591a\u52aa\u529b\u548c\u652f\u6301\u3002CHPO Wiki\u7f51\u5740\uff1ahttp:\/\/www.chinahpo.org\/\uff09<\/div>\n
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\"eicZhoGYCfyafJjQJnYJIhNcTlDmyh5WRSkdtujmg1609IAtLmSaHAbib5IXaCMtOibec3ibqoniaZcWkxxHB07Z1aA\"\/<\/figure><\/div>\n\n<\/div>\n
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\u7edf\u4e00\u57fa\u56e0\u53d8\u5f02\u6ce8\u91ca<\/div>\n
\uff08\u7f16\u8005\u6309\uff1a\u4e3a\u4e86\u7edf\u4e00\u57fa\u56e0\u53d8\u5f02\u6ce8\u91ca\u62a5\u544a\uff0cGEN2PHEN (http:\/\/www.gen2phen.org) \u57282008\u5e74\u8d5e\u52a9\u4e86\u4e00\u4e2a\u4f1a\u8bae\uff0c\u5305\u62ecEBI, NCBI\uff0cHGVS\uff0c LSDB\u7b49\u3002\u4f1a\u8bae\u6210\u679c\u662f\u521b\u5efa\u4e86LRG(Locus Reference Genomic)\u7cfb\u7edf\uff0c\u4e3a\u4e34\u5e8a\u57fa\u56e0\u8bca\u65ad\u63d0\u4f9b\u4e00\u81f4\u7684\uff0c\u6e05\u6670\u7684\u53c2\u8003\u5e8f\u5217\u4fe1\u606f\uff08http:\/\/www.lrg-sequence.org\/\uff09\u3002<\/div>\n
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\"eicZhoGYCfyafJjQJnYJIhNcTlDmyh5WRXpahj3k9dbGrMUjF3MPQkCOR8ibssV5zHVm9VnzhgewJW4H6KLNDcog\"\/<\/figure><\/div>\n\n<\/div>\n
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