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List of Rare Diseases and Synonyms Marche des Maladies Rares – Alliance Maladies Rares DecemberJuly 2014 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 66634 3-methylglutaconic aciduria type 5 2975 46,XX disorder of sex development - skeletal anomalies 79154 2-aminoadipic 2-oxoadipic aciduria 352328 3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome 243 46,XX gonadal dysgenesis 19 2-hydroxyglutaric acidemia 67046 3-methylglutaconyl-CoA hydratase 243 46,XX ovarian dysgenesis 19 2-hydroxyglutaric aciduria deficiency 2138 46,XX ovotesticular disorder of sex 391417 2-methyl-3-hydroxybutyric aciduria 67046 3MG-CoA hydratase deficiency development 391428 2-methyl-3-hydroxybutyric aciduria, 79351 3-phosphoglycerate dehydrogenase 2138 46,XX ovotesticular DSD classic type deficiency 243 46,XX pure gonadal dysgenesis 391428 2-methyl-3-hydroxybutyric aciduria, 79350 3-phosphoserine phosphatase deficiency infantile type 393 46,XX testicular disorder of sex 869 4A syndrome development 391457 2-methyl-3-hydroxybutyric aciduria, neonatal type 2118 4-alpha-hydroxyphenylpyruvate 393 46,XX testicular DSD hydroxylase deficiency 391417 2-methyl-3-hydroxybutyryl-CoA 199310 46,XX/46,XY chimerism dehydrogenase deficiency 88637 4H syndrome 242 46,XY CGD 391428 2-methyl-3-hydroxybutyryl-CoA 2118 4-HPPD deficiency 242 46,XY complete gonadal dysgenesis dehydrogenase deficiency, classic type 22 4-hydroxybutyric aciduria 96266 46,XY disorder of sex developement due 391428 2-methyl-3-hydroxybutyryl-CoA 2118 4-hydroxyphenylpyruvic acid dioxygenase to partial LH receptor inactivation dehydrogenase deficiency, infantile type deficiency 96266 46,XY disorder of sex developement due 391457 2-methyl-3-hydroxybutyryl-CoA 250977 5-amino-4-imidazole carboxamide to partial LH resistance dehydrogenase deficiency, neonatal type ribosiduria 96266 46,XY disorder of sex developement due 79095 2-methylacyl-CoA racemase deficiency 217064 5-fluorouracil intoxication to partial luteinizing hormone resistance 79157 2-methylbutyric aciduria 217064 5-fluorouracil poisoning 168558 46,XY disorder of sex development - 79157 2-methylbutyryl-CoA dehydrogenase adrenal insufficiency due to CYP11A1 33572 5-oxoprolinase deficiency deficiency deficiency 99135 6-phosphogluconate dehydrogenase 255182 2-oxoglutarate complex deficiency 752 46,XY disorder of sex development due to deficiency 17-beta-hydroxysteroid dehydrogenase 3 976 2,8-dihydroxyadenine urolithiasis 13 6-pyruvoyl-tetrahydropterin synthase deficiency 869 2A syndrome deficiency 753 46,XY disorder of sex development due to 869 3A syndrome 818 7-dehydrocholesterol reductase deficiency 5-alpha-reductase 2 deficiency 79301 3-beta-hydroxy-delta-5-C27-steroid 168588 11-beta-hydroxysteroid dehydrogenase 96265 46,XY disorder of sex development due to oxidoreductase deficiency deficiency type 1 complete LH receptor inactivation 7 3C syndrome 320 11-beta-hydroxysteroid dehydrogenase 96265 46,XY disorder of sex development due to deficiency type 2 20 3-hydroxy-3-methylglutaric aciduria complete LH resistance 752 17-beta-hydroxysteroid dehydrogenase 3 20 3-hydroxy-3-methylglutaryl-CoA lyase 96265 46,XY disorder of sex development due to deficiency deficiency complete luteinizing hormone receptor 752 17-ketoreductase deficiency inactivation 35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 752 17-ketosteroidreductase deficiency 96265 46,XY disorder of sex development due to complete luteinizing hormone resistance 309127 3-hydroxyacyl-CoA dehydrogenase 99763 18-hydroxylase deficiency deficiency 90796 46,XY disorder of sex development due to 99763 18-oxidase deficiency isolated 17,20 lyase deficiency 939 3-hydroxyisobutyric aciduria 881 45,X syndrome 755 46,XY disorder of sex development due to 2616 3M syndrome 881 45,X/46,XX syndrome LH resistance or LHB deficiency 2616 3-M syndrome 1772 45,X/46,XY MGD 325448 46,XY disorder of sex development due to 293843 3MC syndrome LHB deficiency 1772 45,X/46,XY mixed gonadal dysgenesis 6 3-methylcrotonylglycinuria 755 46,XY disorder of sex development 1772 45,X0/46,XY MGD due to luteinizing hormone resistance 67046 3-methylglutaconic aciduria type 1 1772 45,X0/46,XY mixed gonadal dysgenesis or luteinizing hormone beta subunit 111 3-methylglutaconic aciduria type 2 deficiency 243 46,XX complete gonadal dysgenesis 67047 3-methylglutaconic aciduria type 3 2973 46,XX disorder of sex development - 67048 3-methylglutaconic aciduria type 4 anorectal anomalies Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical number - July 2014 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 325448 46,XY disorder of sex development due 163693 2p21 microdeletion syndrome 96147 9q subtelomeric deletion syndrome to luteinizing hormone subunit beta 369881 2p21 microdeletion syndrome without 352665 9q21 microdeletion syndrome deficiency cystinuria 401923 9q31.1q31.3 microdeletion syndrome 96265 46,XY DSD due to complete LH receptor 228402 2q23.1 microdeletion syndrome inactivation 96147 9qSTDS 313947 2q23.1 microduplication syndrome 96265 46,XY DSD due to complete LH resistance 284169 10p11.21p12.31 microdeletion syndrome 1617 2q24 microdeletion syndrome 96265 46,XY DSD due to complete luteinizing 284169 10p12p11 microdeletion syndrome 251014 2q31.1 microdeletion syndrome hormone receptor inactivation 276413 10q22.3q23.3 microdeletion syndrome 294026 2q31.1 microduplication syndrome 96265 46,XY DSD due to complete luteinizing 276422 10q22.3q23.3 microduplication syndrome hormone resistance 251019 2q32q33 microdeletion syndrome 1307 10q24 microduplication syndrome 755 46,XY DSD due to LH resistance or LHB 251019 2q32-q33 microdeletion syndrome deficiency 52022 11p11.2 deletion 251028 2q33.1 microdeletion syndrome 325448 46,XY DSD due to LHB deficiency 300305 11p15.4 microduplication syndrome 1001 2q37 microdeletion syndrome 755 46,XY DSD due to luteinizing hormone 313884 12p12.1 microdeletion syndrome 65286 3q subtelomere deletion syndrome resistance or luteinizing hormone beta 280325 12p13.33 microdeletion syndrome subunit deficiency 1621 3q13 microdeletion syndrome 94063 12q14 microdeletion syndrome 325448 46,XY DSD due to luteinizing hormone 96095 3q26 microduplication syndrome subunit beta deficiency 289513 12q15q21.1 microdeletion syndrome 356947 3q26q27 microdeletion syndrome 96266 46,XY DSD due to partial LH receptor 1590 13q32 deletion 356947 3q26-q27microdeletion syndrome inactivation 261120 14q11.2 microdeletion syndrome 397695 3q27.3 microdeletion syndrome 96266 46,XY DSD due to partial LH resistance 261229 14q11.2 microduplication syndrome 65286 3q29 microdeletion syndrome 96266 46,XY DSD due to partial luteinizing 261144 14q12 microdeletion syndrome hormone resistance 251038 3q29 microduplication 264200 14q22q23 microdeletion syndrome 168563 46,XY gonadal dysgenesis - motor and 65286 3qter deletion sensory neuropathy 264200 14q22-q23 microdeletion syndrome 280 4p- syndrome 325345 46,XY ovotesticular disorder of sex 401935 14q24.1q24.3 microdeletion syndrome 96072 4p16.3 microduplication syndrome development 314585 15q overgrowth syndrome 238750 4q21 microdeletion syndrome 325345 46,XY ovotesticular DSD 261183 15q11.2 microdeletion syndrome 329802 5p13 microduplication syndrome 251510 46,XY partial gonadal dysgenesis 238446 15q11q13 duplication syndrome 86841 5q- syndrome 251510 46,XY partial testicular dysgenesis 238446 15q11-q13 duplication syndrome 228384 5q14.3 microdeletion syndrome 251510 46,XY PGD 238446 15q11q13 microduplication syndrome 314655 5q31.3 microdeletion syndrome 242 46,XY pure gonadal dysgenesis 238446 15q11-q13 microduplication syndrome 228415 5q35 microduplication syndrome 3375 47,XXX syndrome 199318 15q13.3 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 8 47,XYY syndrome 261190 15q14 microdeletion syndrome 251046 6p22 microdeletion syndrome 9 48,XXXX syndrome 94065 15q24 microdeletion syndrome 96125 6p25 microdeletion syndrome 96263 48,XXXY syndrome 1596 15q26 deletion 75857 6q terminal deletion syndrome 10 48,XXYY syndrome 363992 15q26.3 microdeletion syndrome 171829 6q16 deletion syndrome 99329 48,XYYY syndrome 261211 16p11.2p12.2 microdeletion syndrome 251056 6q25 microdeletion syndrome 11 49,XXXXX syndrome 261211 16p11.2-p12.2 microdeletion syndrome 314034 7p22.1 microduplication syndrome 96264 49,XXXXY syndrome 261204 16p11.2p12.2 microduplication syndrome 96121 7q11.23 microduplication syndrome 261534 49,XXXYY syndrome 261236 16p13.11 microdeletion syndrome 251061 7q31 microdeletion syndrome 99330 49,XYYYY syndrome 261243 16p13.11 microduplication syndrome 96092 8p inverted duplication/deletion 293948 1p21.3 microdeletion syndrome 96078 16p13.3 microduplication syndrome syndrome 401986 1p31p32 microdeletion syndrome 352629 16q24.1 microdeletion syndrome 168953 8p11 myeloproliferative syndrome 1606 1p36 deletion syndrome 261250 16q24.3 microdeletion syndrome 251066 8p11.2 deletion syndrome 250989 1q21.1 microdeletion syndrome 819 17p11.2 microdeletion 251071 8p23.1 microdeletion syndrome 250994 1q21.1 microduplication syndrome 1713 17p11.2 microduplication syndrome 251076 8p23.1 microduplication syndrome 250999 1q41q42 microdeletion syndrome 217385 17p13.3 duplication syndrome 228399 8q12 microduplication syndrome 250999
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