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Orphanet Report Series Rare Diseases Collection Orphanet Report Series Rare Diseases collection DecemberDecember 2012 2009Number 1 List of rare diseases 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 284169 10p11.21p12.31 microdeletion syndrome 1727 22q11.2 microduplication syndrome 2975 46,XX disorder of sex development - skeletal anomalies 276413 10q22.3q23.3 microdeletion syndrome 79154 2-aminoadipic aciduria 98081 46,XX disorder of sex development 276422 10q22.3q23.3 microduplication syndrome 19 2-hydroxyglutaric aciduria due to synthetic oral progestagen or 300305 11p15.4 microduplication syndrome 79157 2-methylbutyryl-CoA dehydrogenase diethylstilbestrol deficiency 94063 12q14 microdeletion syndrome 98080 46,XX disorder of sex development due to 261349 2p15p16.1 microdeletion syndrome 289513 12q15q21.1 microdeletion syndrome testosterone or related steroids 163693 2p21 microdeletion syndrome 261120 14q11.2 microdeletion syndrome 243 46,XX gonadal dysgenesis 228402 2q23.1 microdeletion syndrome 261229 14q11.2 microduplication syndrome 98779 46,XX iatrogenic androgen-induced disorder 1617 2q24 microdeletion syndrome of sex development of maternal origin 261144 14q12 microdeletion syndrome 251014 2q31.1 microdeletion syndrome 393 46,XX testicular disorder of sex development 264200 14q22q23 microdeletion syndrome 294026 2q31.1 microduplication syndrome 242 46,XY complete gonadal dysgenesis 261183 15q11.2 microdeletion syndrome 251019 2q32q33 microdeletion syndrome 168558 46,XY disorder of sex development - adrenal 238446 15q11q13 microduplication syndrome insufficiency 251028 2q33.1 microdeletion syndrome 199318 15q13.3 microdeletion syndrome 752 46,XY disorder of sex development due to 1001 2q37 microdeletion syndrome 261190 15q14 microdeletion syndrome 17-beta-hydroxysteroid dehydrogenase 3 7 3C syndrome deficiency 94065 15q24 microdeletion syndrome 35701 3-hydroxy 3-methylglutaryl-CoA synthase 753 46,XY disorder of sex development due to 261197 16p11.2 microdeletion syndrome deficiency 5-alpha-reductase 2 deficiency 261204 16p11.2 microduplication syndrome 20 3-hydroxy-3-methylglutaric aciduria 90796 46,XY disorder of sex development due to 261211 16p11.2p12.2 microdeletion syndrome isolated 17, 20 lyase deficiency 939 3-hydroxyisobutyric aciduria 261236 16p13.11 microdeletion syndrome 168563 46,XY gonadal dysgenesis - motor and 2616 3M syndrome sensory neuropathy 261243 16p13.11 microduplication syndrome 67046 3-methylglutaconic aciduria type 1 251510 46,XY partial gonadal dysgenesis 261250 16q24.3 microdeletion syndrome 67047 3-methylglutaconic aciduria type 3 8 47,XYY syndrome 1713 17p11.2 microduplication syndrome 67048 3-methylglutaconic aciduria type 4 96263 48,XXXY syndrome 217385 17p13.3 microduplication syndrome 79351 3-Phosphoglycerate dehydrogenase 10 48,XXYY syndrome 97685 17q11 microdeletion syndrome deficiency 99329 48,XYYY syndrome 139474 17q11.2 microduplication syndrome 79350 3-Phosphoserine phosphatase deficiency 96264 49,XXXXY syndrome 261265 17q12 microdeletion syndrome 1621 3q13 microdeletion syndrome 261534 49,XXXYY syndrome 261272 17q12 microduplication syndrome 96095 3q26 microduplication syndrome 99330 49,XYYYY syndrome 96169 17q21.31 microdeletion syndrome 65286 3q29 microdeletion syndrome 22 4-hydroxybutyricaciduria 217340 17q21.31 microduplication syndrome 251038 3q29 microduplication 238750 4q21 microdeletion syndrome 261279 17q23.1q23.2 microdeletion syndrome 1772 45,X/46,XY mixed gonadal dysgenesis 217064 5-fluorouracil overdose 254346 19p13.12 microdeletion syndrome 98774 46,XX androgen-induced disorder of sex 33572 5-oxoprolinase deficiency 217346 19q13.11 microdeletion syndrome development due to maternal Krukenberg's tumor 228384 5q14.3 microdeletion syndrome 293948 1p21.3 microdeletion syndrome 98775 46,XX androgen-induced disorder of sex 228415 5q35 microduplication syndrome 250989 1q21.1 microdeletion syndrome development due to maternal adrenal 251046 6p22 microdeletion syndrome 250994 1q21.1 microduplication syndrome hyperplasia 99135 6-phosphogluconate dehydrogenase 250999 1q41q42 microdeletion syndrome 98776 46,XX androgen-induced disorder of sex development due to maternal adrenal tumor deficiency 238769 1q44 microdeletion syndrome 98777 46,XX androgen-induced disorder of sex 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis development due to maternal androluteoma deficiency 261295 20p12.3 microdeletion syndrome 98778 46,XX androgen-induced disorder of 75857 6q terminal deletion 261311 20q13.33 microdeletion syndrome sex development due to maternal 251056 6q25 microdeletion syndrome arrhenoblastoma 261323 21q22.11q22.12 microdeletion syndrome 96121 7q11.23 microduplication syndrome 2973 46,XX disorder of sex development - 251061 7q31 microdeletion syndrome 268261 21q22.13q22.2 microdeletion syndrome anorectal anomalies Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 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 96092 8p inverted duplication/deletion 935 Achondroplasia - severe combined 963 Acromegaly immunodeficiency 251066 8p11.2 deletion syndrome 964 Acromegaly - cutis verticis gyrata - corneal 49382 Achromatopsia leukoma 251071 8p23.1 microdeletion syndrome 35121 Acid phosphatase deficiency 39 Acromelanosis 251076 8p23.1 microduplication syndrome 40366 Acitretin embryofetopathy 1827 Acromelic frontonasal dysplasia 228399 8q12 microduplication syndrome 2561 Ackerman syndrome 953 Acromesomelic dysplasia, Brahimi-Bacha type 2496 8q13 microdeletion syndrome 43115 Aconitase deficiency 2098 Acromesomelic dysplasia, Grebe type 284160 8q21.11 microdeletion syndrome 91385 Acquired angioedema 968 Acromesomelic dysplasia, Hunter-Thomson 178303 8q22.1 microdeletion syndrome type 100056 Acquired angioedema type 1 915 Aarskog-Scott syndrome 40 Acromesomelic dysplasia, Maroteaux type 100055 Acquired angioedema type 2 916 Aase-Smith syndrome 969 Acromicric dysplasia 228285 Acquired cutis laxa 918 ABCD syndrome 955 Acroosteolysis dominant type 46487 Acquired epidermolysis bullosa 14 Abetalipoproteinemia 2980 Acro-oto-ocular syndrome 79086 Acquired generalized lipodystrophy 920 Ablepharon macrostomia syndrome 85203 Acro-pectoral syndrome 73274 Acquired hemophilia 99089 Abnormal number of coronary ostia 956 Acro-pectoro-renal dysplasia 2221 Acquired hypertrichosis lanuginosa 1138 Abnormal origin of the pulmonary artery 957 Acropectorovertebral dysplasia 454 Acquired ichthyosis 95493 Abnormal origin or aberrant course of 41 Acropigmentation of Dohi coronary artery 75564 Acquired idiopathic sideroblastic anemia 971 Acrorenal syndrome 921 Abruzzo-Erickson syndrome 37559 Acquired kinky hair syndrome 958 Acro-renal-mandibular syndrome 2310 Absence deformity of leg - cataract 206616 Acquired metabolic neuropathy 959 Acro-renal-ocular syndrome 99112 Absence of innominate vein 26348 Acquired prothrombin deficiency 189427 ACTH-independent macronodular adrenal 99700 Absence of dermal ridge patterns- 228247 Acquired pseudoxanthoma elasticum hyperplasia onychodystrophy - palmoplantar anhidrosis 238547 Acquired secondary polycythemia 254395 Actinic lichen planus 1658 Absence of fingerprints - congenital milia 93585 Acquired thrombotic thrombocytopenic 163696 Action myoclonus - renal failure syndrome 99799 Absence of lateral incisors purpura 73423 Acute ackee fruit intoxication 980 Absence of the pulmonary artery 99147 Acquired Von Willebrand syndrome 95409 Acute adrenal insufficiency 2951 Absent thumb - short stature - 158673 Acral dystrophic epidermolysis bullosa immunodeficiency 284460 Acute annular outer retinopathy 90396 Acral persistent papular mucinosis 988 Absent tibia - polydactyly 86849 Acute basophilic leukemia 281127 Acral self-healing collodion baby 3328 Absent tibia - polydactyly - arachnoid cyst 69736 Acute bilateral depigmentation of the iris 36 Acrocallosal syndrome 945 Acalvaria 98837 Acute biphenotypic leukemia 63446 Acrocapitofemoral dysplasia 67043 Acanthamoeba keratitis 83597 Acute disseminated encephalitis 2008 Acro-cardio-facial syndrome 79468 Acanthokeratolytic verrucous nevus 318 Acute erythroid leukemia 221054 Acrocephalopolydactyly 924 Acanthosis nigricans 243367 Acute fatty liver of pregnancy 949 Acrocraniofacial dysostosis 90301 Acanthosis nigricans - Insulin resistance - 293173 Acute generalized exanthematous pustulosis 163931 Acrodermatitis continua suppurativa of muscle cramps - acral enlargement Hallopeau 99920 Acute graft versus host disease 926 Acatalasemia 37 Acrodermatitis enteropathica, zinc deficiency 95157 Acute hepatic porphyria 99061 Accessory mitral valve tissue type 217371 Acute infantile liver failure due to mtDNA- 674 Accessory pancreas 950 Acrodysostosis encoded proteins synthesis defect 95462 Accessory tricuspid valve tissue 280651 Acrodysostosis with multiple hormone 98916 Acute inflammatory demyelinating resistance polyradiculoneuropathy 48818 Aceruloplasminemia 1786 Acrofacial dysostosis, Catania type 79276 Acute intermittent porphyria 99736 Acetazolamide-responsive myotonia 245 Acrofacial dysostosis, Nager type 79126 Acute interstitial pneumonia 929 Achalasia - microcephaly 1787 Acrofacial dysostosis, Palagonia type 86851 Acute leukemia of ambiguous lineage 294983 Acheiria 1788 Acrofacial dysostosis, Rodriguez type 90062 Acute liver failure 295103 Acheiria, bilateral
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