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_181.xml b/Rare diseases and classifications/Classifications of rare diseases/en_product3_181.xml index c3218ec..e833cdb 100644 --- a/Rare diseases and classifications/Classifications of rare diseases/en_product3_181.xml +++ b/Rare diseases and classifications/Classifications of rare diseases/en_product3_181.xml @@ -1,5 +1,5 @@ - + Creative Commons Attribution 4.0 International @@ -21,7 +21,7 @@ Category - + 603699 @@ -363,7 +363,7 @@ Category - + 1934 @@ -376,35 +376,11 @@ - - - 1935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1935 - Early myoclonic encephalopathy - - Clinical syndrome - - - - - 1949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949 - Benign familial neonatal epilepsy - - Disease - - - - - - - - 64545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64545 - Benign idiopathic neonatal seizures + Self-limited neonatal epilepsy Disease @@ -428,7 +404,7 @@ 293181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 - Malignant migrating focal seizures of infancy + Epilepsy of infancy with migrating focal seizures Disease @@ -488,7 +464,7 @@ 3451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3451 - Infantile spasms syndrome + Infantile epileptic spasms syndrome Clinical syndrome @@ -512,7 +488,7 @@ 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Generalized epilepsy with febrile seizures-plus + Genetic epilepsy with febrile seizure plus Disease @@ -524,7 +500,7 @@ 86908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908 - Idiopathic hemiconvulsion-hemiplegia syndrome + Hemiconvulsion-hemiplegia-epilepsy syndrome Disease @@ -565,7 +541,7 @@ Clinical group - + 569 @@ -582,7 +558,7 @@ 306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 - Benign familial infantile epilepsy + Self-limited infantile epilepsy Disease @@ -606,7 +582,7 @@ 140927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 - Benign familial neonatal-infantile seizures + Self-limited neonatal-infantile epilepsy Disease @@ -614,42 +590,6 @@ - - - 166295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166295 - Benign non-familial infantile seizures - - Clinical group - - - - - - 166299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166299 - Benign partial epilepsy of infancy with complex partial seizures - - Disease - - - - - - - - 166302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166302 - Benign partial epilepsy with secondarily generalized seizures in infancy - - Disease - - - - - - - 166305 @@ -810,7 +750,7 @@ 1945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 - Rolandic epilepsy + Self-limited epilepsy with centrotemporal spikes Disease @@ -822,7 +762,7 @@ 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Generalized epilepsy with febrile seizures-plus + Genetic epilepsy with febrile seizure plus Disease @@ -1064,7 +1004,7 @@ 725 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725 - Continuous spikes and waves during sleep + Developmental and epileptic encephalopathy with spike-wave activation in sleep Disease @@ -1076,7 +1016,7 @@ 25968 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968 - Benign occipital epilepsy + Self-limited childhood occipital epilepsy Disease @@ -1086,7 +1026,7 @@ 98815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98815 - Benign childhood occipital epilepsy, Panayiotopoulos type + Self-limited epilepsy with autonomic seizures Clinical subtype @@ -1098,7 +1038,7 @@ 98816 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98816 - Benign childhood occipital epilepsy, Gastaut type + Childhood occipital visual epilepsy Clinical subtype @@ -1542,7 +1482,7 @@ 86908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908 - Idiopathic hemiconvulsion-hemiplegia syndrome + Hemiconvulsion-hemiplegia-epilepsy syndrome Disease @@ -1638,7 +1578,7 @@ 1945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 - Rolandic epilepsy + Self-limited epilepsy with centrotemporal spikes Disease @@ -1650,7 +1590,7 @@ 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Generalized epilepsy with febrile seizures-plus + Genetic epilepsy with febrile seizure plus Disease @@ -2518,7 +2458,7 @@ 884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 - Tetrasomy 12p + Tetrasomy 12p syndrome Malformation syndrome @@ -2681,7 +2621,7 @@ Category - + 589515 @@ -2840,7 +2780,7 @@ 3451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3451 - Infantile spasms syndrome + Infantile epileptic spasms syndrome Clinical syndrome @@ -2970,7 +2910,7 @@ 1945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 - Rolandic epilepsy + Self-limited epilepsy with centrotemporal spikes Disease @@ -2982,7 +2922,7 @@ 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Generalized epilepsy with febrile seizures-plus + Genetic epilepsy with febrile seizure plus Disease @@ -3128,7 +3068,7 @@ 293181 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 - Malignant migrating focal seizures of infancy + Epilepsy of infancy with migrating focal seizures Disease @@ -3606,6 +3546,30 @@ + + + 684232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 + Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome + + Malformation syndrome + + + + + + + + 684240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 + Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome + + Malformation syndrome + + + + + @@ -3656,7 +3620,7 @@ 1945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 - Rolandic epilepsy + Self-limited epilepsy with centrotemporal spikes Disease @@ -3668,7 +3632,7 @@ 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Generalized epilepsy with febrile seizures-plus + Genetic epilepsy with febrile seizure plus Disease @@ -3790,7 +3754,7 @@ 306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 - Benign familial infantile epilepsy + Self-limited infantile epilepsy Disease @@ -3802,7 +3766,7 @@ 140927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 - Benign familial neonatal-infantile seizures + Self-limited neonatal-infantile epilepsy Disease @@ -7796,7 +7760,7 @@ 86908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908 - Idiopathic hemiconvulsion-hemiplegia syndrome + Hemiconvulsion-hemiplegia-epilepsy syndrome Disease @@ -8730,7 +8694,7 @@ 98764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 - Spinocerebellar ataxia type 27 + Spinocerebellar ataxia type 27A Disease @@ -14719,7 +14683,7 @@ Category - + 556985 @@ -14756,6 +14720,18 @@ + + + 684290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684290 + Hypertrophic olivary degeneration + + Disease + + + + + 621758 @@ -15241,7 +15217,7 @@ Clinical group - + 100993 @@ -15326,6 +15302,18 @@ + + + 689231 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689231 + IFH1-related hereditary spastic paraplegia + + Disease + + + + + 631068 @@ -15349,7 +15337,7 @@ Clinical group - + 101004 @@ -15422,6 +15410,18 @@ + + + 689234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689234 + RNASEH2B-related hereditary spastic paraplegia + + Disease + + + + + @@ -18326,7 +18326,7 @@ 98764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 - Spinocerebellar ataxia type 27 + Spinocerebellar ataxia type 27A Disease @@ -22016,7 +22016,7 @@ 3454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 - Intellectual disability-developmental delay-contractures syndrome + Wieacker-Wolff syndrome Malformation syndrome @@ -22096,7 +22096,7 @@ 59135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135 - Laing early-onset distal myopathy + Laing distal myopathy Disease @@ -22235,7 +22235,7 @@ Category - + 602 @@ -22308,6 +22308,18 @@ + + + 689021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689021 + Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome + + Disease + + + + + 482601 @@ -32168,6 +32180,18 @@ + + + 689001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689001 + Isolated spontaneous vertebral artery dissection + + Disease + + + + + 482092 @@ -32252,18 +32276,6 @@ - - - 36382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36382 - Familial cervical artery dissection - - Disease - - - - - 284247 @@ -32814,7 +32826,7 @@ 99226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X + Monosomy X syndrome Etiological subtype @@ -32826,7 +32838,7 @@ 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X + Mosaic monosomy X syndrome Etiological subtype @@ -33188,7 +33200,7 @@ 166108 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108 - Intellectual disability, Birk-Barel type + Birk-Barel syndrome Disease @@ -34064,7 +34076,7 @@ 36387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Generalized epilepsy with febrile seizures-plus + Genetic epilepsy with febrile seizure plus Disease @@ -38432,7 +38444,7 @@ 3451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3451 - Infantile spasms syndrome + Infantile epileptic spasms syndrome Clinical syndrome @@ -39351,7 +39363,7 @@ Category - + 85325 @@ -40064,7 +40076,7 @@ 289522 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522 - Microtriplication 11q24.1 + Microtriplication 11q24.1 syndrome Malformation syndrome @@ -40086,7 +40098,7 @@ 1620 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 - Distal deletion 3p + Distal deletion 3p syndrome Malformation syndrome @@ -40254,7 +40266,7 @@ 1707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 - Distal duplication 15q + Distal duplication 15q syndrome Etiological subtype @@ -40266,7 +40278,7 @@ 314588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 - Distal triplication 15q + Distal triplication 15q syndrome Etiological subtype @@ -41092,18 +41104,6 @@ - - - 436151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151 - Intellectual disability-expressive aphasia-facial dysmorphism syndrome - - Disease - - - - - 436245 @@ -41478,7 +41478,7 @@ 398069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - MAGEL2-related Prader-Willi-like syndrome + Schaaf-Yang syndrome Disease @@ -41960,7 +41960,7 @@ 36367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 - Distal deletion 1q + Distal deletion 1q syndrome Malformation syndrome @@ -42668,7 +42668,7 @@ 96125 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p + Distal deletion 6p syndrome Malformation syndrome @@ -44912,7 +44912,7 @@ 2135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 - Hennekam-Beemer syndrome + Cutaneous mastocytosis-deafness-microtia syndrome Malformation syndrome @@ -47084,7 +47084,7 @@ 457193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 - Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome + KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome Malformation syndrome @@ -47320,6 +47320,30 @@ + + + 684216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 + Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome + + Malformation syndrome + + + + + + + + 684742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 + 2q13 microdeletion syndrome + + Malformation syndrome + + + + + 613267 @@ -47344,6 +47368,150 @@ + + + 684226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684226 + Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome + + Malformation syndrome + + + + + + + + 687695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687695 + 10p13-p14 deletion syndrome + + Malformation syndrome + + + + + + + + 687424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687424 + 10p15 microdeletion syndrome + + Malformation syndrome + + + + + + + + 686482 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686482 + BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome + + Malformation syndrome + + + + + + + + 686488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686488 + RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome + + Malformation syndrome + + + + + + + + 686495 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686495 + MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome + + Disease + + + + + + + + 685017 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685017 + Combined immunodeficiency due to TBX1 deficiency + + Disease + + + + + + + + 688642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 + Turnpenny-Fry syndrome + + Malformation syndrome + + + + + + + + 689422 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689422 + Okur-Chung neurodevelopmental syndrome + + Malformation syndrome + + + + + + + + 689397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689397 + Poirier-Bienvenue neurodevelopmental syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 689408 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689408 + Shashi-Pena syndrome + + Malformation syndrome + + + + + 619233 @@ -47685,8 +47853,8 @@ 658540 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658540 16q22 deletion syndrome - - Disease + + Malformation syndrome @@ -47697,8 +47865,8 @@ 658843 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome - - Disease + + Malformation syndrome @@ -47817,8 +47985,8 @@ 659642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 Rauch-Steindl syndrome - - Clinical subtype + + Malformation syndrome @@ -47836,6 +48004,42 @@ + + + 684305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 + NOCGUS syndrome + + Disease + + + + + + + + 684232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 + Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome + + Malformation syndrome + + + + + + + + 684240 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 + Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome + + Malformation syndrome + + + + + 950 @@ -48248,7 +48452,7 @@ 3454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 - Intellectual disability-developmental delay-contractures syndrome + Wieacker-Wolff syndrome Malformation syndrome @@ -51732,7 +51936,7 @@ 98764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 - Spinocerebellar ataxia type 27 + Spinocerebellar ataxia type 27A Disease @@ -54058,7 +54262,7 @@ 398069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - MAGEL2-related Prader-Willi-like syndrome + Schaaf-Yang syndrome Disease @@ -58665,8 +58869,8 @@ 659642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 Rauch-Steindl syndrome - - Clinical subtype + + Malformation syndrome @@ -63683,7 +63887,7 @@ Category - + 48431 @@ -63888,6 +64092,18 @@ + + + 686999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 + Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome + + Disease + + + + + 456312 @@ -65458,6 +65674,30 @@ + + + 686468 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686468 + Post 5-alpha-reductase inhibitors treatment syndrome + + Disease + + + + + + + + 686475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686475 + Post-selective serotonin reuptake inhibitor sexual dysfunction + + Disease + + + + +