commit 6eb274384f0c4cd30cc83f08ce097956913930ce Author: davidlagorce Date: Wed Dec 4 08:42:13 2024 +0100 DEC 2024 diff --git a/Rare diseases and classifications/Classifications of rare diseases/en_product3_189.xml b/Rare diseases and classifications/Classifications of rare diseases/en_product3_189.xml index 769b07b..2acf92f 100644 --- a/Rare diseases and classifications/Classifications of rare diseases/en_product3_189.xml +++ b/Rare diseases and classifications/Classifications of rare diseases/en_product3_189.xml @@ -1,5 +1,5 @@ - + Creative Commons Attribution 4.0 International @@ -2351,7 +2351,7 @@ Category - + 79281 @@ -2556,18 +2556,6 @@ - - - 50817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50817 - Duane anomaly-myopathy-scoliosis syndrome - - Disease - - - - - 77260 @@ -2764,7 +2752,7 @@ 77301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301 - Monosomy 9q22.3 + Monosomy 9q22.3 syndrome Malformation syndrome @@ -3160,7 +3148,7 @@ 1581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581 - Non-distal deletion 10q + Non-distal deletion 10q syndrome Malformation syndrome @@ -4623,7 +4611,19 @@ Category - + + + + 280914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280914 + Isolated idiopathic anterior uveitis + + Disease + + + + + 279922 @@ -8020,7 +8020,7 @@ 3378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 + Trisomy 13 syndrome Malformation syndrome @@ -9592,7 +9592,7 @@ 96125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p + Distal deletion 6p syndrome Malformation syndrome @@ -9877,7 +9877,7 @@ Category - + 1106 @@ -10094,6 +10094,18 @@ + + + 689829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 + Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome + + Disease + + + + + 603494 @@ -10670,7 +10682,7 @@ 99226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X + Monosomy X syndrome Etiological subtype @@ -10682,7 +10694,7 @@ 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X + Mosaic monosomy X syndrome Etiological subtype @@ -10720,7 +10732,7 @@ 281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 - Monosomy 5p + Monosomy 5p syndrome Malformation syndrome @@ -10732,7 +10744,7 @@ 1587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 - Monosomy 13q14 + Monosomy 13q14 syndrome Malformation syndrome @@ -10744,7 +10756,7 @@ 1705 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 - Distal duplication 14q + Distal duplication 14q syndrome Malformation syndrome @@ -11966,7 +11978,7 @@ 1620 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 - Distal deletion 3p + Distal deletion 3p syndrome Malformation syndrome @@ -12649,7 +12661,7 @@ Category - + 1896 @@ -13670,6 +13682,18 @@ + + + 684305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 + NOCGUS syndrome + + Disease + + + + + @@ -14076,7 +14100,7 @@ 99226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X + Monosomy X syndrome Etiological subtype @@ -14088,7 +14112,7 @@ 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X + Mosaic monosomy X syndrome Etiological subtype @@ -14126,7 +14150,7 @@ 281 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 - Monosomy 5p + Monosomy 5p syndrome Malformation syndrome @@ -14138,7 +14162,7 @@ 1598 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598 - Monosomy 18p + Monosomy 18p syndrome Disease @@ -14150,7 +14174,7 @@ 1600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 - Monosomy 18q + Monosomy 18q syndrome Malformation syndrome @@ -14162,7 +14186,7 @@ 3378 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 + Trisomy 13 syndrome Malformation syndrome @@ -14174,7 +14198,7 @@ 3380 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 - Trisomy 18 + Trisomy 18 syndrome Malformation syndrome @@ -14186,7 +14210,7 @@ 236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 - Trisomy 9p + Trisomy 9p syndrome Malformation syndrome @@ -14210,7 +14234,7 @@ 1587 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 - Monosomy 13q14 + Monosomy 13q14 syndrome Malformation syndrome @@ -14222,7 +14246,7 @@ 1590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 - Distal deletion 13q + Distal deletion 13q syndrome Malformation syndrome @@ -14234,7 +14258,7 @@ 1695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695 - Non-distal duplication 10q + Non-distal duplication 10q syndrome Malformation syndrome @@ -14246,7 +14270,7 @@ 1742 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742 - Trisomy 5p + Trisomy 5p syndrome Malformation syndrome @@ -14258,7 +14282,7 @@ 3309 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309 - Tetrasomy 5p + Tetrasomy 5p syndrome Malformation syndrome @@ -14270,7 +14294,7 @@ 96070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070 - Distal duplication 2p + Distal duplication 2p syndrome Malformation syndrome @@ -14294,7 +14318,7 @@ 96102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102 - Distal duplication 10q + Distal duplication 10q syndrome Malformation syndrome @@ -14306,7 +14330,7 @@ 96168 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168 - Monosomy 13q34 + Monosomy 13q34 syndrome Malformation syndrome @@ -14328,7 +14352,7 @@ 1707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 - Distal duplication 15q + Distal duplication 15q syndrome Etiological subtype @@ -14340,7 +14364,7 @@ 314588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 - Distal triplication 15q + Distal triplication 15q syndrome Etiological subtype @@ -14366,7 +14390,7 @@ 3376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376 - Triploidy + Triploidy syndrome Malformation syndrome @@ -17312,7 +17336,7 @@ 236 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 - Trisomy 9p + Trisomy 9p syndrome Malformation syndrome @@ -17718,7 +17742,7 @@ 96125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p + Distal deletion 6p syndrome Malformation syndrome