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_195.xml b/Rare diseases and classifications/Classifications of rare diseases/en_product3_195.xml index 430bfe5..8a9f9d9 100644 --- a/Rare diseases and classifications/Classifications of rare diseases/en_product3_195.xml +++ b/Rare diseases and classifications/Classifications of rare diseases/en_product3_195.xml @@ -1,5 +1,5 @@ - + Creative Commons Attribution 4.0 International @@ -616,7 +616,7 @@ 447740 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447740 - Susceptibility to localized juvenile periodontitis + Aggressive periodontitis Disease @@ -819,7 +819,7 @@ Category - + 51636 @@ -899,7 +899,7 @@ Category - + 99898 @@ -964,7 +964,19 @@ 477857 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477857 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency + Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency + + Disease + + + + + + + + 686447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686447 + IFNG-responsive severe mendelian susceptibility to mycobacterial diseases Disease @@ -1024,7 +1036,7 @@ 574957 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574957 - Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency + Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency Disease @@ -1136,19 +1148,7 @@ 70592 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592 - Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency - - Disease - - - - - - - - 183713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183713 - Bacterial susceptibility due to TLR signaling pathway deficiency + Transient predisposition to invasive pyogenic bacterial infection Disease @@ -1727,7 +1727,7 @@ Clinical group - + 275 @@ -1812,6 +1812,18 @@ + + + 688543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688543 + Reticular dysgenesis-like severe combined immunodeficiency + + Disease + + + + + @@ -1823,31 +1835,7 @@ Clinical group - - - - 357237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 - Combined immunodeficiency due to CARD11 deficiency - - Disease - - - - - - - - 397787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 - Severe combined immunodeficiency due to IKK2 deficiency - - Disease - - - - - + 420573 @@ -1873,7 +1861,7 @@ Category - + 324294 @@ -2018,42 +2006,6 @@ - - - 183663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663 - Hyper-IgM syndrome with susceptibility to opportunistic infections - - Disease - - - - - - 101088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 - X-linked hyper-IgM syndrome - - Clinical subtype - - - - - - - - 101090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 - Hyper-IgM syndrome type 3 - - Clinical subtype - - - - - - - 217390 @@ -2114,18 +2066,6 @@ - - - 357329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 - Combined immunodeficiency due to IL21R deficiency - - Disease - - - - - 397959 @@ -2150,18 +2090,6 @@ - - - 476113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 - Combined immunodeficiency due to TFRC deficiency - - Disease - - - - - 477661 @@ -2186,30 +2114,6 @@ - - - 447737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 - Combined immunodeficiency due to DOCK2 deficiency - - Disease - - - - - - - - 397964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 - Combined immunodeficiency due to MALT1 deficiency - - Disease - - - - - 431149 @@ -2258,6 +2162,150 @@ + + + 688571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688571 + Combined immunodeficiency with low immunoglobulins + + Clinical group + + + + + + 397787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397787 + Combined immunodeficiency due to IKK2 deficiency + + Disease + + + + + + + + 183663 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663 + Hyper-IgM syndrome with susceptibility to opportunistic infections + + Disease + + + + + + 101088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 + X-linked hyper-IgM syndrome + + Clinical subtype + + + + + + + + 101090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 + Hyper-IgM syndrome type 3 + + Clinical subtype + + + + + + + + + + 447737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447737 + Combined immunodeficiency due to DOCK2 deficiency + + Disease + + + + + + + + 357237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357237 + Combined immunodeficiency due to CARD11 deficiency + + Disease + + + + + + + + 476113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476113 + Combined immunodeficiency due to TFRC deficiency + + Disease + + + + + + + + 357329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357329 + Combined immunodeficiency due to IL21R deficiency + + Disease + + + + + + + + + + 688563 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688563 + Combined immunodeficiency with normal Ig and poor specific antibody response + + Clinical group + + + + + + 397964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397964 + Combined immunodeficiency due to MALT1 deficiency + + Disease + + + + + + + + 688594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 + Combined immunodeficiency due to RELB deficiency + + Disease + + + + + + + 504530 @@ -2857,7 +2905,7 @@ Category - + 3453 @@ -2990,6 +3038,18 @@ + + + 688594 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688594 + Combined immunodeficiency due to RELB deficiency + + Disease + + + + + 658946 @@ -3315,7 +3375,7 @@ Category - + 906 @@ -3496,6 +3556,18 @@ + + + 477814 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 + Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome + + Malformation syndrome + + + + + 169346 @@ -3733,7 +3805,7 @@ Category - + 169095 @@ -3746,6 +3818,30 @@ + + + 687695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687695 + 10p13-p14 deletion syndrome + + Malformation syndrome + + + + + + + + 685017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685017 + Combined immunodeficiency due to TBX1 deficiency + + Disease + + + + + 138 @@ -3805,7 +3901,7 @@ Clinical group - + 2314 @@ -3914,6 +4010,18 @@ + + + 662829 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662829 + Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome + + Disease + + + + + 619972