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Orphanet Report Series Rare Diseases Collection Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic aciduria with deafness 19 2-hydroxyglutaric aciduria - encephalopathy - Leigh-like syndrome 818 7-dehydrocholesterol reductase deficiency 35123 2-methyl-3-hydroxybutyryl-CoA 67046 3-methylglutaconyl-CoA hydratase 314034 7p22.1 microduplication syndrome dehydrogenase deficiency deficiency 96121 7q11.23 microduplication syndrome 79095 2-methylacyl-CoA racemase deficiency 67046 3MG-CoA hydratase deficiency 251061 7q31 microdeletion syndrome 79157 2-methylbutyric aciduria 79351 3-phosphoglycerate dehydrogenase 96092 8p inverted duplication/deletion 79157 2-methylbutyryl-CoA dehydrogenase deficiency syndrome deficiency 79350 3-phosphoserine phosphatase deficiency 168953 8p11 myeloproliferative syndrome 255182 2-oxoglutarate complex deficiency 65286 3q subtelomere deletion syndrome 251066 8p11.2 deletion syndrome 261349 2p15p16.1 microdeletion syndrome 1621 3q13 microdeletion syndrome 251071 8p23.1 microdeletion syndrome 261349 2p15-p16.1 microdeletion syndrome 96095 3q26 microduplication syndrome 251076 8p23.1 microduplication syndrome 163693 2p21 deletion 356947 3q26q27 microdeletion syndrome 228399 8q12 microduplication syndrome 163693 2p21 microdeletion syndrome 356947 3q26-q27microdeletion syndrome 2496 8q13 microdeletion syndrome 228402 2q23.1 microdeletion syndrome 65286 3q29 microdeletion syndrome 284160 8q21.11 microdeletion syndrome 313947 2q23.1 microduplication syndrome 251038 3q29 microduplication 178303 8q22.1 microdeletion syndrome 1617 2q24 microdeletion syndrome 65286 3qter deletion 261112 9p deletion syndrome 251014 2q31.1 microdeletion syndrome 2118 4-alpha-hydroxyphenylpyruvate 261112 9p- syndrome 294026 2q31.1 microduplication syndrome hydroxylase deficiency 324313 9p13 microdeletion syndrome 251019 2q32q33 microdeletion syndrome 88637 4H syndrome 96147 9q subtelomeric deletion syndrome 251019 2q32-q33 microdeletion syndrome 2118 4-HPPD deficiency 352665 9q21 microdeletion syndrome 251028 2q33.1 microdeletion syndrome 22 4-hydroxybutyric aciduria 96147 9qSTDS 1001 2q37 microdeletion syndrome 2118 4-hydroxyphenylpyruvic acid dioxygenase 284169 10p11.21p12.31 microdeletion syndrome 869 3A syndrome deficiency 284169 10p12p11 microdeletion syndrome 79301 3-beta-hydroxy-delta-5-C27-steroid 280 4p- syndrome oxidoreductase deficiency 238750 4q21 microdeletion syndrome 276413 10q22.3q23.3 microdeletion syndrome 7 3C syndrome 250977 5-amino-4-imidazole carboxamide 276422 10q22.3q23.3 microduplication syndrome 35123 3-hydroxy-2-methylbutyryl-CoA ribosiduria 1307 10q24 microduplication syndrome dehydrogenase deficiency 217064 5-fluorouracil intoxication 168588 11-beta-hydroxysteroid dehydrogenase 20 3-hydroxy-3-methylglutaric aciduria 217064 5-fluorouracil poisoning deficiency type 1 20 3-hydroxy-3-methylglutaryl-CoA lyase 33572 5-oxoprolinase deficiency 320 11-beta-hydroxysteroid dehydrogenase deficiency deficiency type 2 329802 5p13 microduplication syndrome 35701 3-hydroxy-3-methylglutaryl-CoA synthase 52022 11p11.2 deletion 86841 5q- syndrome deficiency Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical number - October 2013 2 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 300305 11p15.4 microduplication syndrome 254346 19p13.12 microdeletion syndrome 96265 46,XY disorder of sex development due to complete LH receptor inactivation 313884 12p12.1 microdeletion syndrome 357001 19p13.13 microdeletion syndrome 96265 46,XY disorder of sex development due to 280325 12p13.33 microdeletion syndrome 217346 19q13.11 microdeletion syndrome complete LH resistance 94063 12q14 microdeletion syndrome 313781 20p subtelomeric deletion syndrome 96265 46,XY disorder of sex development due to 289513 12q15q21.1 microdeletion syndrome 261295 20p12.3 microdeletion syndrome complete luteinizing hormone receptor 1590 13q32 deletion 313781 20p13 microdeletion syndrome inactivation 261120 14q11.2 microdeletion syndrome 261311 20q13.33 microdeletion syndrome 96265 46,XY disorder of sex development due to complete luteinizing hormone resistance 261229 14q11.2 microduplication syndrome 574 21q deletion 90796 46,XY disorder of sex development due to 261144 14q12 microdeletion syndrome 574 21q- syndrome isolated 17, 20 lyase deficiency 264200 14q22q23 microdeletion syndrome 261323 21q22.11q22.12 microdeletion syndrome 755 46,XY disorder of sex development due to 264200 14q22-q23 microdeletion syndrome 261323 21q22.11-q22.12 microdeletion syndrome LH resistance or LHB deficiency 314585 15q overgrowth syndrome 268261 21q22.13q22.2 microdeletion syndrome 325448 46,XY disorder of sex development due to LHB deficiency 261183 15q11.2 microdeletion syndrome 268261 21q22.13-q22.2 microdeletion syndrome 755 46,XY disorder of sex development 238446 15q11q13 duplication syndrome 567 22q11.2 deletion syndrome due to luteinizing hormone resistance 238446 15q11-q13 duplication syndrome 1727 22q11.2 microduplication syndrome or luteinizing hormone beta subunit deficiency 238446 15q11q13 microduplication syndrome 567 22q11DS 325448 46,XY disorder of sex development due 238446 15q11-q13 microduplication syndrome 48652 22q13 deletion to luteinizing hormone subunit beta 199318 15q13.3 microdeletion syndrome 881 45,X syndrome deficiency 261190 15q14 microdeletion syndrome 881 45,X/46,XX syndrome 96265 46,XY DSD due to complete LH receptor inactivation 94065 15q24 microdeletion syndrome 1772 45,X/46,XY MGD 96265 46,XY DSD due to complete LH resistance 1596 15q26 deletion 1772 45,X/46,XY mixed gonadal dysgenesis 96265 46,XY DSD due to complete luteinizing 261211 16p11.2p12.2 microdeletion syndrome 1772 45,X0/46,XY MGD hormone receptor inactivation 261211 16p11.2-p12.2 microdeletion syndrome 1772 45,X0/46,XY mixed gonadal dysgenesis 96265 46,XY DSD due to complete luteinizing 261204 16p11.2p12.2 microduplication syndrome 243 46,XX complete gonadal dysgenesis hormone resistance 261236 16p13.11 microdeletion syndrome 2973 46,XX disorder of sex development - 755 46,XY DSD due to LH resistance or LHB anorectal anomalies deficiency 261243 16p13.11 microduplication syndrome 2975 46,XX disorder of sex development - 325448 46,XY DSD due to LHB deficiency 96078 16p13.3 microduplication syndrome skeletal anomalies 755 46,XY DSD due to luteinizing hormone 352629 16q24.1 microdeletion syndrome 243 46,XX gonadal dysgenesis resistance or luteinizing hormone beta 261250 16q24.3 microdeletion syndrome subunit deficiency 243 46,XX ovarian dysgenesis 752 17-beta-hydroxysteroid dehydrogenase 3 325448 46,XY DSD due to luteinizing hormone 2138 46,XX ovotesticular disorder of sex deficiency subunit beta deficiency development 35123 17b-hydroxysteroid dehydrogenase 96266 46,XY DSD due to partial LH receptor 2138 46,XX ovotesticular DSD deficiency type 10 inactivation 243 46,XX pure gonadal dysgenesis 752 17-ketoreductase deficiency 96266 46,XY DSD due to partial LH resistance 393 46,XX testicular disorder of sex 752 17-ketosteroidreductase deficiency 96266 46,XY DSD due to partial luteinizing development 819 17p11.2 microdeletion hormone resistance 393 46,XX testicular DSD 1713 17p11.2 microduplication syndrome 168563 46,XY gonadal dysgenesis - motor and 199310 46,XX/46,XY chimerism sensory neuropathy 217385 17p13.3 duplication syndrome 242 46,XY CGD 325345 46,XY ovotesticular disorder of sex 217385 17p13.3 microduplication syndrome 242 46,XY complete gonadal dysgenesis development 97685 17q11 microdeletion syndrome 96266 46,XY disorder of sex developement due 325345 46,XY ovotesticular DSD 139474 17q11.2 microduplication syndrome to partial LH receptor inactivation 251510 46,XY partial gonadal dysgenesis 261265 17q12 microdeletion syndrome 96266 46,XY disorder of sex developement due 251510 46,XY partial testicular dysgenesis to partial LH resistance 261272 17q12 microduplication syndrome 251510 46,XY PGD 96266 46,XY disorder of sex developement due 96169 17q21.31 microdeletion syndrome 242 46,XY pure
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