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Home , ABCD syndrome, Acalvaria, Achalasia microcephaly, Acheiropodia, Achondrogenesis type 1B, Acrocallosal syndrome

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 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 or related 163693 2p21 microdeletion syndrome 261120 14q11.2 microdeletion syndrome 243 46,XX 228402 2q23.1 microdeletion syndrome 261229 14q11.2 microduplication syndrome 98779 46,XX iatrogenic -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 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 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 - severe combined 963 immunodeficiency 251066 8p11.2 deletion syndrome 964 Acromegaly - cutis verticis gyrata - corneal 49382 leukoma 251071 8p23.1 microdeletion syndrome 35121 Acid phosphatase deficiency 39 Acromelanosis 251076 8p23.1 microduplication syndrome 40366 Acitretin embryofetopathy 1827 Acromelic 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 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 918 ABCD syndrome 955 Acroosteolysis dominant type 46487 Acquired 14 2980 Acro-oto-ocular syndrome 79086 Acquired generalized 920 Ablepharon syndrome 85203 Acro-pectoral syndrome 73274 Acquired hemophilia 99089 Abnormal number of coronary ostia 956 Acro-pectoro-renal dysplasia 2221 Acquired lanuginosa 1138 Abnormal origin of the pulmonary 957 Acropectorovertebral dysplasia 454 Acquired 95493 Abnormal origin or aberrant course of 41 Acropigmentation of Dohi coronary artery 75564 Acquired idiopathic sideroblastic 971 Acrorenal syndrome 921 Abruzzo-Erickson syndrome 37559 Acquired kinky syndrome 958 Acro-renal-mandibular syndrome 2310 Absence deformity of leg - 206616 Acquired metabolic neuropathy 959 Acro-renal-ocular syndrome 99112 Absence of innominate 26348 Acquired prothrombin deficiency 189427 ACTH-independent macronodular adrenal 99700 Absence of dermal ridge patterns- 228247 Acquired hyperplasia onychodystrophy - palmoplantar anhidrosis 238547 Acquired secondary 254395 Actinic 1658 Absence of fingerprints - congenital milia 93585 Acquired thrombotic thrombocytopenic 163696 Action - 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 2951 Absent - - 158673 Acral dystrophic epidermolysis bullosa immunodeficiency 284460 Acute annular outer retinopathy 90396 Acral persistent papular mucinosis 988 Absent - 86849 Acute basophilic 281127 Acral self-healing collodion baby 3328 Absent tibia - polydactyly - arachnoid 69736 Acute bilateral of the 36 945 98837 Acute biphenotypic leukemia 63446 Acrocapitofemoral dysplasia 67043 Acanthamoeba keratitis 83597 Acute disseminated encephalitis 2008 Acro-cardio-facial syndrome 79468 Acanthokeratolytic verrucous 318 Acute erythroid leukemia 221054 Acrocephalopolydactyly 924 243367 Acute fatty of pregnancy 949 Acrocraniofacial 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, deficiency 95157 Acute hepatic porphyria 99061 Accessory mitral valve type 217371 Acute infantile liver failure due to mtDNA- 674 Accessory pancreas 950 Acrodysostosis encoded synthesis defect 95462 Accessory tricuspid valve tissue 280651 Acrodysostosis with multiple 98916 Acute inflammatory demyelinating resistance polyradiculoneuropathy 48818 1786 Acrofacial dysostosis, Catania type 79276 Acute intermittent porphyria 99736 Acetazolamide-responsive myotonia 245 Acrofacial dysostosis, Nager type 79126 Acute interstitial pneumonia 929 Achalasia - 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 952 Acrofacial dysostosis, Weyers type 178320 Acute injury 295101 Acheiria, unilateral 1784 Acro-fronto-facio-nasal dysostosis 513 Acute lymphoblastic leukemia 931 2500 Acrogeria 518 Acute megacaryoblastic leukemia 932 38 Acrokeratoelastoidosis of Costa 514 Acute monoblastic leukemia 93299 Achondrogenesis type 1A 79151 Acrokeratosis verruciformis of Hopf 98918 Acute motor axonal neuropathy 93298 965 Acromegaloid facial appearance syndrome 98917 Acute motor-sensory axonal neuropathy 93296 966 Acromegaloid facies - hypertrichosis 98834 Acute myeloblastic leukemia with maturation 15 Achondroplasia

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 3 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 98833 Acute myeloblastic leukemia without 45 Adenosine monophosphate deaminase 52055 Agenesis of the - intellectual maturation deficiency deficit - - micrognathia 519 91127 Adenovirus in immunocompromised 99114 Agenesis of the superior vena cava patients 102379 Acute myeloid leukemia and myelodysplastic 86873 Aggressive NK-cell leukemia syndromes related to alkylating agent 46 Adenylosuccinate lyase deficiency 98850 Aggressive systemic 164726 Acute myeloid leukemia and myelodysplastic 36397 Adiposis dolorosa 990 - - situs inversus syndromes related to radiation 1544 Adolescent benign focal crisis 50 102381 Acute myeloid leukemia and myelodysplastic 3153 Adolescent idiopathic syndromes related to topoisomerase type 2 51 Aicardi-Goutieres syndrome 463 Adrenal incidentaloma inhibitor 250977 AICA-ribosiduria 99888 Adrenocortical adenoma 99887 Acute myeloid leukemia in 90081 AIDS wasting syndrome 1501 Adrenocortical carcinoma 98831 Acute myeloid leukemia with 11q23 52 Alagille syndrome abnormalities 231625 Adrenocortical carcinoma with pure 261600 Alagille syndrome due to 20p12 hypersecretion 98829 Acute myeloid leukemia with abnormal microdeletion marrow eosinophils inv(16)(p13q22) or 139399 Adrenomyeloneuropathy t(16;16)(p13;q22) 261619 Alagille syndrome due to a JAG1 point 977 Adrenomyodystrophy 86845 Acute myeloid leukemia with multilineage dysplasia 2688 Adult idiopathic neutropenia 261629 Alagille syndrome due to a NOTCH2 point mutation 102724 Acute myeloid leukemia with t(8;21) 70578 Adult acute respiratory distress syndrome 178333 Åland Island (q22;q22) translocation 93668 Adult chronic recurrent multifocal 517 Acute myelomonocytic leukemia osteomyelitis 2007 Alar - coloboma - telecanthus 263524 Acute necrotizing of 2666 Adult familial nephronophtisis - spastic childhood quadriparesia 53 Albers-Schönberg 247546 Acute neonatal type I 284414 Adult glycerol deficiency 998 -deafness syndrome 35889 Acute opioid poisoning 874 Adult tumor 665 Albright hereditary 231457 Acute pandysautonomia 210159 Adult 35664 ALDH18A1-related DeBarsy syndrome 86843 Acute panmyelosis with myelofibrosis 247676 Adult hypophosphatasia 57 Aldolase A deficiency 90064 Acute peripheral arterial occlusion 178487 Adult intestinal botulism 158799 Aleukemic mast cell leukemia 43119 Acute poisoning by drugs with membrane- 206448 Adult Krabbe disease 58 stabilizing effect 79262 Adult neuronal ceroid lipofuscinosis 139477 Al-Gazali-Dattani syndrome 520 Acute promyelocytic leukemia 171442 Adult onset nemaline 56 231450 Acute pure sensory neuropathy 206583 Adult polyglucosan body disease 300903 ALK-negative anaplastic large cell 90059 Acute sensorineural by acute 99874 Adult pulmonary Langerhans cell 300895 ALK-positive anaplastic large cell lymphoma acoustic trauma or sudden deafness or histiocytosis induced acoustic trauma 59 Allan-Herndon-Dudley syndrome 98872 Adult 231466 Acute sensory ataxic neuropathy 1164 Allergic bronchopulmonary aspergillosis 829 Adult Still's disease 139417 Acute transverse myelitis 93925 Alobar holoprosencephaly 978 ADULT syndrome 43117 Acute tricyclic poisoning 1005 Alopecia - contractures - - 86875 Adult T-cell leukemia/lymphoma intellectual deficit 98835 Acute undifferentiated leukemia 99027 Adult-onset autosomal dominant 1008 Alopecia - - pyorrhea - intellectual 284454 Acute zonal occult outer retinopathy deficit 99901 Acyl-CoA dehydrogenase 9 deficiency 284289 Adult-onset autosomal recessive cerebellar 1011 Alopecia - - extrapyramidal 295118 Adactyly of foot, bilateral disorder 295116 Adactyly of foot, unilateral 247573 Adult-onset citrullinemia type I 1014 Alopecia - intellectual deficit - hypergonadotropic hypogonadism 55881 Adamantinoma 99000 Adult-onset foveomacular vitelliform dystrophy 99687 Alopecia - onychodysplasia - - 974 Adams-Oliver syndrome deafness 276608 Adult-onset non-insulinoma persistent 85138 Addison disease hyperinsulinemic 99689 Alopecia - skin - - defect 2952 Adducted - , Christian 209335 Adult-onset proximal spinal muscular type atrophy, autosomal dominant 1006 Alopecia antibody deficiency 213772 of the cervix uteri 139507 African overload 700 95512 Adenohypophysitis 101334 African tick typhus 701 213828 Adenoid basal carcinoma of the cervix uteri 3385 African trypanosomiasis 2850 Alopecia-intellectual deficit syndrome 213823 of the cervix uteri 83617 Agammaglobulinemia - microcephaly - 726 Alpers syndrome - severe dermatitis 213741 Adenoid cystic carcinoma of the corpus uteri 734 Alpha delta granule deficiency 180142 Agenesis and aplasia of uterine body 213792 Adenosarcoma of the cervix uteri 100025 Alpha heavy-chain disease 213600 Adenosarcoma of the corpus uteri

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 4 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 98791 Alpha - intellectual deficit 100082 Anal endocrine tumor 281139 Annular epidermolytic ichthyosis syndrome 228113 Anal fistula 254424 Annular lichen planus 847 Alpha thalassemia - X-linked intellectual 251589 Anaplastic astrocytoma 675 Annular pancreas deficit 251646 Anaplastic ependymoma 99797 60 Alpha-1 antitrypsin deficiency 251957 Anaplastic ganglioglioma 99788 Anomalous dysplasia of 93594 Alpha-1-antichymotrypsin deficiency 98841 Anaplastic large cell lymphoma 101932 Anomaly of the mitral subvalvular apparatus 98910 Alpha-crystallinopathy 251663 Anaplastic oligoastrocytoma 95463 Anomaly of the tricuspid subvalvular 61 Alpha-mannosidosis apparatus 251630 Anaplastic oligodendroglioma 3137 Alpha-N-acetylgalactosaminidase deficiency 99055 Anomaly of the tricuspid valve chordae 142 Anaplastic thyroid carcinoma 79279 Alpha-N-acetylgalactosaminidase deficiency 1094 Anonychia - microcephaly type 1 251855 Anaplastic/large cell medulloblastoma 90390 Anonychia - onychodystrophy 79280 Alpha-N-acetylgalactosaminidase deficiency 93347 Anauxetic dysplasia 94150 Anonychia congenita totalis type 2 754 Androgen insensitivity syndrome 69125 Anonychia with flexural pigmentation 79281 Alpha-N-acetylgalactosaminidase deficiency 157954 ANE syndrome type 3 99987 - esophageal-genital syndrome 1044 Anemia due to adenosine triphosphatase 846 Alpha-thalassemia deficiency 1101 Anophthalmia - - cardiopathy - skeletal anomalies 231401 Alpha-thalassemia - myelodysplastic 284984 - osteoarthritis syndrome syndrome 1104 Anophthalmia plus syndrome 1054 Aneurysm of sinus of Valsalva 63 77298 Anophthalmia/ - esophageal 95484 Aneurysm or dilation of ascending 86818 Alport syndrome - intellectual deficit - atresia 90065 Aneurysmal subarachnoid hemorrhage midface hypoplasia - elliptocytosis 93976 Anotia 72 64 Alström syndrome 2987 Antecubital pterygium syndrome 98794 Angelman syndrome due to maternal 2131 Alternating hemiplegia of childhood 93604 Antenatal 15q11q13 deletion 284 Alveolar echinococcosis 178148 Antenatal multiminicore disease with 98795 Angelman syndrome due to paternal congenital arthrogryposis multiplex 99756 Alveolar of 15 98988 Anterior polar cataract 163699 Alveolar soft-part 63442 Angel-shaped phalango-epiphyseal dysplasia 90079 Anthracycline extravasations 99694 Alveolar synechia - ankyloblepharon - 251671 Angiocentric 2194 Anti-HLA hyperimmunization 86886 Angioimmunoblastic T-cell lymphoma 1021 Amaurosis - hypertrichosis 81 Antisynthetase syndrome 2346 Angio-osteohypertrophic syndrome 1023 Ambras syndrome 83 Antley-Bixler syndrome 75508 Angio-osteohypotrophic syndrome 294969 of lower limb 63269 Antley-Bixler syndrome with genital anomaly 263413 295059 Amelia of lower limb, bilateral and disorder of steroidogenesis 74 Angiostrongyliasis 295057 Amelia of lower limb, unilateral 263476 Antley-Bixler syndrome without genital 69088 Anhidrotic ectodermal dysplasia anomaly or disorder of steroidogenesis 294967 Amelia of upper limb - immunodeficiency - osteopetrosis - 1457 Aorta coarctation 295055 Amelia of upper limb, bilateral 2037 Aorta-pulmonary artery fistula 295053 Amelia of upper limb, unilateral 77 1110 Aortic arch anomaly - peculiar facies - 1946 Amelo-cerebro-hypohidrotic syndrome 1069 Aniridia - absent patella intellectual deficit 88661 1065 Aniridia - cerebellar ataxia - intellectual 1132 Aortic arch defects deficit 1031 Amelogenesis imperfecta - nephrocalcinosis 2299 Aortic arch interruption 1067 Aniridia - - intellectual deficit - 171836 Amelogenesis imperfecta and gingival familial 88636 Aortic dilatation - - hyperplasia syndrome arterial tortuosity 1064 Aniridia - renal agenesis - psychomotor 1028 Amelo-onycho-hypohidrotic syndrome retardation 95448 atresia 3386 American trypanosomiasis 1068 Aniridia-intellectual deficit syndrome 101043 Aortic valve dysplasia 1908 Aminopterin/methotrexate embryofetopathy 1070 Anisakiasis 99071 Aorto-left ventricular tunnel 171714 Amish infantile epilepsy syndrome 1071 Ankyloblepharon - ectodermal defects - cleft 99086 Aorto-pulmonary coronary arterial course 99742 Amish lethal microcephaly / 99070 Aorto-right ventricular tunnel 98902 Amish 1074 Ankyloblepharon filiforme - 3400 Aorto-ventricular tunnel 1034 Amniotic bands 1072 Ankyloblepharon filiforme adnatum - cleft 247806 APC-related attenuated familial adenomatous palate 67 Amoebiasis due to Entamoeba histolytica polyposis 2206 Ankylosing vertebral hyperostosis with 68 Amoebiasis due to free-living amoebae 87 tylosis 803 Amyotrophic lateral sclerosis 1112 Aphalangy - hemivertebrae - urogenital- 78 Ankylostomiasis intestinal dysgenesis 90020 Amyotrophic lateral sclerosis-- 254411 Annular atrophic lichen planus dementia complex 1113 Aphalangy - - microcephaly

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 5 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 1117 Aplasia cutis - 1152 Arthrogryposis multiplex congenita - 254449 Atrophic lichen planus 1116 - intestinal 79100 Atrophoderma vermiculata lymphangiectasia 1150 Arthrogryposis multiplex congenita - 220460 Attenuated familial adenomatous polyposis whistling 86815 Aplasia of lacrimal and salivary glands 95487 Atypical arterial duct 1144 Arthrogryposis-like anomaly - 99981 Apnea of prematurity sensorineural deafness 199627 Atypical 294986 Apodia 1149 Arthrogryposis-like syndrome 98824 Atypical chronic myeloid leukemia 295107 Apodia, bilateral 2302 Asbestos intoxication 1456 Atypical coarctation of aorta 295105 Apodia, unilateral 1253 Ascher syndrome 289863 Atypical encephalopathy 425 Apolipoprotein A-I deficiency 57194 Aseptic osteitis 2134 Atypical hemolytic uremic syndrome 320 Apparent mineralocorticoid excess 137686 Asherman's syndrome 93581 Atypical hemolytic uremic syndrome with 100079 Appendix endocrine tumor antibody anti-factor H 93 Aspartylglucosaminuria 1126 Aprosencephaly cerebellar dysgenesis 93578 Atypical hemolytic uremic syndrome with B 1163 Aspergillosis factor anomaly 1129 - abnormal - 85175 Astley-Kendall dysplasia intellectual deficit 93575 Atypical hemolytic uremic syndrome with C3 251679 Astroblastoma anomaly 1130 Arachnodactyly - intellectual deficit - dysmorphism 94 Astrocytoma 93579 Atypical hemolytic uremic syndrome with H factor anomaly 2356 Arachnoid cyst 1166 93580 Atypical hemolytic uremic syndrome with I 137817 Arachnoiditis 1180 Ataxia - hypogonadism - choroidal dystrophy factor anomaly 344 Arbovirus 1168 Ataxia - oculomotor apraxia type 1 93576 Atypical hemolytic uremic syndrome with 1133 AREDYLD syndrome 2585 Ataxia - pancytopenia MCP/CD46 anomaly 101096 Aregenerative anemia 1184 Ataxia - photosensitivity - short stature 217023 Atypical hemolytic uremic syndrome with 35704 :glycine amidinotransferase 1178 Ataxia - tapetoretinal degeneration thrombomodulin anomaly deficiency 1179 Ataxia - tonic upward deviation of eyes 238523 Atypical - syndrome 90 1188 Ataxia-deafness-retardation syndrome 86797 Atypical lichen myxedematosus 23 Argininosuccinic aciduria 100 Ataxia- 247768 Atypical Mayer-Rokitansky-Küster-Hauser 60014 syndrome 251347 Ataxia-telangiectasia-like disorder 97342 Argyrophilic grain disease 261501 Atypical due to 1190 Atelosteogenesis I Xp11.3 268882 Arnold- type I 56304 Atelosteogenesis type II 216873 Atypical pantothenate kinase associated 1136 Arnold-Chiari malformation type II 56305 Atelosteogenesis type III 91 69739 Athabaskan brainstem dysgenesis syndrome 251902 Atypical papilloma of plexus 178345 Aromatase excess syndrome 1192 - deafness - - 99750 Atypical progressive supranuclear palsy 35708 Aromatic L-aminoacid decarboxylase epilepsy - nephropathy 3095 Atypical deficiency 95713 Athyreosis 99966 Atypical teratoid tumor 1134 1193 Atkin-Flaitz syndrome 251891 Atypical teratoid/rhabdoid tumor 1135 Arrhinia - - microphthalmia 99666 Atlantoaxial subluxation 79474 Atypical 247 Arrhythmogenic right ventricular dysplasia 163934 Atopic keratoconjunctivitis 166415 Audiogenic 1682 Arterial - 1195 77300 Auricular abnormalities - cleft lip with or 97599 Arterial due to renal artery 1201 Atresia of small intestine without cleft palate - ocular abnormalities secondary to 105 Atresia of urethra 137888 Auriculo-condylar syndrome 3342 Arterial tortuosity syndrome 1344 Atrial with heart block 71270 Auriculoocular anomalies - cleft lip 1139 Arthrogryposis - epileptic seizures - migrational disorder 1479 - atrioventricular 114 Auriculoosteodysplasia conduction defects 1485 Arthrogryposis - , lethal form 1219 Aurocephalosyndactyly 99104 Atrial septal defect, coronary sinus type 1154 Arthrogryposis - ophthalmoplegia - 137911 Autism - facial port-wine stain retinopathy 99106 Atrial septal defect, ostium primum type 103916 Autoimmune enteropathy type 2 2697 Arthrogryposis - renal dysfunction - 99103 Atrial septal defect, ostium secundum type 103917 Autoimmune enteropathy type 3 cholestasis 99105 Atrial septal defect, sinus venosus type 90033 Autoimmune , warm type 65720 Arthrogryposis - severe scoliosis 99107 Atrial septum aneurysm 36913 Autoimmune hypoparathyroidism 1157 Arthrogryposis - spondylohypoplasia - 844 Atrial tachyarrhythmia with short PR interval 3261 Autoimmune lymphoproliferative syndrome popliteal pterygium 1211 Atrichia - mental and growth delay 275517 Autoimmune lymphoproliferative syndrome 1155 Arthrogryposis due to 86819 Atrichia with papular lesions with recurrent 1037 Arthrogryposis multiplex congenita 1352 Atrioventricular defect - 206569 Autoimmune necrotizing myopathy -radial defects 103919 Autoimmune pancreatitis

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 6 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 280302 Autoimmune pancreatitis type 1 79407 Autosomal dominant dystrophic 88950 Autosomal dominant medullary cystic epidermolysis bullosa, Cockayne-Touraine disease with 280315 Autoimmune pancreatitis type 2 type 34149 Autosomal dominant medullary cystic kidney 3453 Autoimmune polyendocrinopathy type 1 231568 Autosomal dominant dystrophic disease with or without hyperuricemia 3143 Autoimmune polyendocrinopathy type 2 epidermolysis bullosa, Pasini and Cockayne- 88949 Autosomal dominant medullary cystic kidney Touraine types 227982 Autoimmune polyendocrinopathy type 3 disease without hyperuricemia 216989 Autosomal dominant dystrophic 227990 Autoimmune polyendocrinopathy type 4 2514 Autosomal dominant microcephaly epidermolysis bullosa, Pasini type 71203 Autoimmune thrombocytopenia 65743 Autosomal dominant multiple pterygium 98853 Autosomal dominant Emery-Dreifuss muscular syndrome 33110 Autosomal agammaglobulinemia dystrophy 99846 Autosomal dominant myoglobinuria 280365 Autosomal codominant severe lipodystrophic 73229 Autosomal dominant familial - retinal arteriolar tortuosity - contractures 79153 Autosomal dominant dysplasia 88918 Autosomal dominant Alport syndrome 93963 Autosomal dominant focal , DYT7 178469 Autosomal dominant nonsyndromic 169189 Autosomal dominant type intellectual deficit 94145 Autosomal dominant cerebellar ataxia type 1 2024 Autosomal dominant gingival 90635 Autosomal dominant nonsyndromic sensorineural deafness type DFNA 94148 Autosomal dominant cerebellar ataxia type 3 2314 Autosomal dominant hyper IgE syndrome 93328 Autosomal dominant omodysplasia 94149 Autosomal dominant cerebellar ataxia type 4 276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 67036 Autosomal dominant optic atrophy and 64746 Autosomal dominant Charcot-Marie- cataract disease type 2 276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency 3212 Autosomal dominant optic atrophy and 99946 Autosomal dominant Charcot-Marie-Tooth congenital deafness disease type 2A1 428 Autosomal dominant 255117 Autosomal dominant optic atrophy and late- 99800 Autosomal dominant 99947 Autosomal dominant Charcot-Marie-Tooth onset deafness disease type 2A2 1810 Autosomal dominant hypohidrotic ectodermal 250932 Autosomal dominant optic atrophy and dysplasia 99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B 89937 Autosomal dominant hypophosphatemic 1215 Autosomal dominant optic atrophy plus 99937 Autosomal dominant Charcot-Marie-Tooth syndrome disease type 2C 90114 Autosomal dominant intermediate Charcot- 98673 Autosomal dominant optic atrophy, classic Marie-Tooth disease 99938 Autosomal dominant Charcot-Marie-Tooth type disease type 2D 100043 Autosomal dominant intermediate Charcot- 2783 Autosomal dominant osteopetrosis type 1 99939 Autosomal dominant Charcot-Marie-Tooth Marie-Tooth disease type A 2790 Autosomal dominant , Worth disease type 2E 100044 Autosomal dominant intermediate Charcot- type 99940 Autosomal dominant Charcot-Marie-Tooth Marie-Tooth disease type B 1010 Autosomal dominant palmoplantar disease type 2F 100045 Autosomal dominant intermediate Charcot- and congenital alopecia 99941 Autosomal dominant Charcot-Marie-Tooth Marie-Tooth disease type C 88924 Autosomal dominant polycystic type 2G 100046 Autosomal dominant intermediate Charcot- disease type 1 with 99942 Autosomal dominant Charcot-Marie-Tooth Marie-Tooth disease type D 1300 Autosomal dominant popliteal pterygium disease type 2I 93325 Autosomal dominant Kenny-Caffey syndrome syndrome 99943 Autosomal dominant Charcot-Marie-Tooth 2334 Autosomal dominant keratitis disease type 2J 2964 Autosomal dominant 503 Autosomal dominant 99944 Autosomal dominant Charcot-Marie-Tooth 254892 Autosomal dominant progressive external disease type 2K 101046 Autosomal dominant lateral temporal lobe ophthalmoplegia epilepsy 99945 Autosomal dominant Charcot-Marie-Tooth 88659 Autosomal dominant progressive disease type 2L 266 Autosomal dominant limb-girdle muscular nephropathy with hypertension dystrophy type 1A 228179 Autosomal dominant Charcot-Marie-Tooth 93608 Autosomal dominant renal tubular 264 Autosomal dominant limb-girdle muscular disease type 2M 209867 Autosomal dominant rhegmatogenous retinal dystrophy type 1B 228174 Autosomal dominant Charcot-Marie-Tooth detachment 265 Autosomal dominant limb-girdle muscular disease type 2N 3107 Autosomal dominant dystrophy type 1C 284232 Autosomal dominant Charcot-Marie-Tooth 247511 Autosomal dominant secondary polycythemia disease type 2O 34516 Autosomal dominant limb-girdle muscular dystrophy type 1D 486 Autosomal dominant severe congenital 300319 Autosomal dominant Charcot-Marie-Tooth neutropenia disease type 2P 34517 Autosomal dominant limb-girdle muscular dystrophy type 1E 140481 Autosomal dominant slowed nerve 1455 Autosomal dominant coarctation of aorta conduction velocity 55595 Autosomal dominant limb-girdle muscular 1216 Autosomal dominant congenital benign dystrophy type 1F 251282 Autosomal dominant spastic ataxia 55596 Autosomal dominant limb-girdle muscular 100991 Autosomal dominant spastic paraplegia type 90348 Autosomal dominant cutis laxa dystrophy type 1G 10 2337 Autosomal dominant diffuse palmoplantar 238755 Autosomal dominant limb-girdle muscular 100993 Autosomal dominant spastic paraplegia type keratoderma, Norrbotten type dystrophy type 1H 12 98808 Autosomal dominant dopa-responsive 140957 Autosomal dominant macrothrombocytopenia 100994 Autosomal dominant spastic paraplegia type dystonia 13

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 7 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 100998 Autosomal dominant spastic paraplegia type 260305 Autosomal recessive congenital sideroblastic 140922 Autosomal recessive limb-girdle muscular 17 anemia dystrophy type 2J 100999 Autosomal dominant spastic paraplegia type 90349 Autosomal recessive cutis laxa type 1 86812 Autosomal recessive limb-girdle muscular 19 dystrophy type 2K 90350 Autosomal recessive cutis laxa type 2 101009 Autosomal dominant spastic paraplegia type 206549 Autosomal recessive limb-girdle muscular 2776 Autosomal recessive distal osteolysis 29 dystrophy type 2L syndrome 100984 Autosomal dominant spastic paraplegia 206554 Autosomal recessive limb-girdle muscular 101150 Autosomal recessive dopa-responsive type 3 dystrophy type 2M dystonia 101011 Autosomal dominant spastic paraplegia type 206559 Autosomal recessive limb-girdle muscular 79408 Autosomal recessive dystrophic epidermolysis 31 dystrophy type 2N bullosa, Hallopeau-Siemens type 171612 Autosomal dominant spastic paraplegia type 206564 Autosomal recessive limb-girdle muscular 89842 Autosomal recessive dystrophic epidermolysis 37 dystrophy type 2O bullosa, non-Hallopeau-Siemens type 171617 Autosomal dominant spastic paraplegia type 206580 Autosomal recessive lower motor 238569 Autosomal recessive early-onset 38 disease with childhood onset inflammatory bowel disease 100985 Autosomal dominant spastic paraplegia 238505 Autosomal recessive lymphoproliferative 98855 Autosomal recessive Emery-Dreifuss muscular type 4 disease dystrophy 171863 Autosomal dominant spastic paraplegia type 667 Autosomal recessive malignant osteopetrosis 89838 Autosomal recessive epidermolysis bullosa 42 simplex 655 Autosomal recessive medullary cystic kidney 100988 Autosomal dominant spastic paraplegia disease 1974 Autosomal recessive facio-digito-genital type 6 syndrome 2990 Autosomal recessive multiple pterygium 100989 Autosomal dominant spastic paraplegia syndrome 169446 Autosomal recessive hyper IgE syndrome type 8 280654 Autosomal recessive nail dysplasia 79644 Autosomal recessive hyperinsulinism due to 100990 Autosomal dominant spastic paraplegia Kir6.2 deficiency 88616 Autosomal recessive nonsyndromic type 9 intellectual deficit 79643 Autosomal recessive hyperinsulinism due to 1797 Autosomal dominant spondylocostal SUR1 deficiency 90636 Autosomal recessive nonsyndromic dysostosis sensorineural deafness type DFNB 99801 Autosomal recessive hypodontia 228169 Autosomal dominant striatal 93329 Autosomal recessive omodysplasia neurodegeneration 248 Autosomal recessive hypohidrotic ectodermal dysplasia 99012 Autosomal recessive optic atrophy, OPA6 type 3086 Autosomal dominant vitreoretinochoroidopathy 289176 Autosomal recessive hypophosphatemic 227976 Autosomal recessive optic atrophy, OPA7 type rickets 64542 Autosomal recessive acrofacial dysostosis 1366 Autosomal recessive palmoplantar 300547 Autosomal recessive infantile hypercalcemia keratoderma and congenital alopecia 88919 Autosomal recessive Alport syndrome 217055 Autosomal recessive intermediate Charcot- 731 Autosomal recessive polycystic kidney 1027 Autosomal recessive amelia Marie-Tooth disease type A disease 247815 Autosomal recessive ataxia due to PEX10 254334 Autosomal recessive intermediate Charcot- 2512 Autosomal recessive primary microcephaly deficiency Marie-Tooth disease type B 254886 Autosomal recessive progressive external 139485 Autosomal recessive ataxia due to 93324 Autosomal recessive Kenny-Caffey syndrome ophthalmoplegia ubiquinone deficiency 267 Autosomal recessive limb girdle muscular 100982 Autosomal recessive pure spastic paraplegia 88644 Autosomal recessive ataxia, Beauce type dystrophy type 2A 255132 Autosomal recessive pyridoxine-refractory 91024 Autosomal recessive axonal Charcot-Marie- 280333 Autosomal recessive limb-girdle muscular Tooth disease type 2 dystrophy - dystroglycanopathy type C7 93609 Autosomal recessive 169186 Autosomal recessive centronuclear myopathy 254361 Autosomal recessive limb-girdle muscular 1507 Autosomal recessive Robinow syndrome 95433 Autosomal recessive cerebellar ataxia - dystrophy due to deficiency blindness - deafness 247378 Autosomal recessive secondary polycythemia 268 Autosomal recessive limb-girdle muscular not associated with VHL 284282 Autosomal recessive cerebellar ataxia - dystrophy type 2B epilepsy - intellectual deficit 254343 Autosomal recessive spastic ataxia - optic 353 Autosomal recessive limb-girdle muscular atrophy - dysarthria 284271 Autosomal recessive cerebellar ataxia - dystrophy type 2C psychomotor retardation 2822 Autosomal recessive spastic paraplegia type 62 Autosomal recessive limb-girdle muscular 11 95434 Autosomal recessive cerebellar ataxia - dystrophy type 2D saccadic intrusion 100995 Autosomal recessive spastic paraplegia type 119 Autosomal recessive limb-girdle muscular 14 1170 Autosomal recessive cerebelloparenchymal dystrophy type 2E disorder type 3 100996 Autosomal recessive spastic paraplegia type 219 Autosomal recessive limb-girdle muscular 15 101097 Autosomal recessive Charcot-Marie-Tooth dystrophy type 2F disease with hoarseness 209951 Autosomal recessive spastic paraplegia type 34514 Autosomal recessive limb-girdle muscular 18 90118 Autosomal recessive Charcot-Marie-Tooth dystrophy type 2G disease, Ouvrier type 101000 Autosomal recessive spastic paraplegia type 1878 Autosomal recessive limb-girdle muscular 20 2518 Autosomal recessive chorioretinopathy - dystrophy type 2H microcephaly 101001 Autosomal recessive spastic paraplegia type 34515 Autosomal recessive limb-girdle muscular 21 100981 Autosomal recessive complex spastic dystrophy type 2I paraplegia

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 8 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 101003 Autosomal recessive spastic paraplegia type 1234 Bartsocas-Papas syndrome 209973 Benign familial nocturnal alternating 23 hemiplegia of childhood 112 Bartter syndrome 101004 Autosomal recessive spastic paraplegia type 64545 Benign idiopathic neonatal seizures 263417 Bartter syndrome with hypocalcemia 24 166308 Benign infantile focal epilepsy with midline 268829 Basal 101005 Autosomal recessive spastic paraplegia type spikes and wave during sleep 25 100976 Bathing suit ichthyosis 166305 Benign infantile seizures associated to mild 101006 Autosomal recessive spastic paraplegia type 166113 Bazex syndrome gastroenteritis 26 113 Bazex-Dupré-Christol syndrome 166295 Benign non-familial infantile seizures 101007 Autosomal recessive spastic paraplegia type 86852 B-cell prolymphocytic leukemia 25968 Benign occipital epilepsy 27 98895 Becker muscular dystrophy 71518 Benign paroxysmal torticollis of infancy 101008 Autosomal recessive spastic paraplegia type 28 64755 Becker nevus syndrome 166299 Benign partial epilepsy of infancy with complex partial seizures 101010 Autosomal recessive spastic paraplegia type 116 Beckwith-Wiedemann syndrome 30 231127 Beckwith-Wiedemann syndrome due to 166302 Benign partial epilepsy with secondarily generalized seizures in infancy 171622 Autosomal recessive spastic paraplegia type 11p15 microdeletion 32 96076 Beckwith-Wiedemann syndrome due to 166311 Benign partial infantile seizures 171629 Autosomal recessive spastic paraplegia type 11p15 microduplication 252131 Benign peripheral nerve sheath tumor 35 231130 Beckwith-Wiedemann syndrome due to 65682 Benign recurrent intrahepatic cholestasis 11p15 translocation/inversion 139480 Autosomal recessive spastic paraplegia type 99960 Benign recurrent intrahepatic cholestasis 39 231120 Beckwith-Wiedemann syndrome due to type 1 CDKN1C mutation 100986 Autosomal recessive spastic paraplegia type 99961 Benign recurrent intrahepatic cholestasis 5A 231117 Beckwith-Wiedemann syndrome due to type 2 imprinting defect of 11p15 99013 Autosomal recessive spastic paraplegia type 252164 Benign schwannoma 7 238613 Beckwith-Wiedemann syndrome due to NSD1 180237 Benign tumor of fallopian tube 2311 Autosomal recessive spondylocostal mutation 528 Berardinelli-Seip congenital lipodystrophy dysostosis 96193 Beckwith-Wiedemann syndrome due to 250984 Autosomal recessive paternal uniparental disomy of chromosome 274 Bernard-Soulier syndrome 11 300345 Autosomal recessive systemic 1243 Best disease 1237 Beemer-Ertbruggen syndrome erythematosus 85446 Beta2-microglobulinic amyloidosis 275864 Behavioural variant of frontotemporal 168629 Autosomal thrombocytopenia with normal 99849 Beta-enolase deficiency platelets dementia 118 Beta-mannosidosis 1220 Axenfeld-Rieger anomaly - hydrocephaly - 117 Behcet disease 848 Beta-thalassemia skeletal abnormalities 1239 Behr syndrome 231256 Beta-thalassemia - 782 Axenfeld-Rieger syndrome 1241 Bencze syndrome 231393 Beta-thalassemia - X-linked 98978 Axenfeld's anomaly 86814 Benign adult familial myoclonic epilepsy thrombocytopenia 1834 Axial mesodermal dysplasia spectrum 100009 Benign adult familial myoclonic epilepsy 231230 Beta-thalassemia associated with another type 1 168549 Axial spondylometaphyseal dysplasia anomaly 100010 Benign adult familial myoclonic epilepsy 90119 Axonal Charcot-Marie-Tooth disease with 231222 Beta-thalassemia intermedia acrodystrophy type 2 231214 Beta-thalassemia major 209004 Axonal associated with IgG/ 289251 Benign adult familial myoclonic epilepsy IgM/IgA monoclonal gammopathy type 3 231386 Beta-thalassemia with other manifestations 99121 Azygos continuation of the inferior vena cava 157997 Benign cephalic histiocytosis 65287 Beta-ureidopropionase deficiency 108 Babesiosis 98816 Benign childhood occipital epilepsy, Gastaut 610 type 36234 Bacterial toxic-shock syndrome 180106 Bicervical bicornuate and blind hemi- 98815 Benign childhood occipital epilepsy, vagina 1223 Balantidiasis Panayiotopoulos type 180111 Bicervical bicornuate uterus with patent 93395 Ballard syndrome 251287 Benign concentric annular macular dystrophy cervix and vagina 1225 Baller-Gerold syndrome 93955 Benign essential blepharospasm 2088 Bickel-Fanconi glycogenosis 228165 Balò concentric sclerosis 71269 Benign exophthalmos syndrome 79138 Bickerstaff's brainstem encephalitis 1226 Bamforth syndrome 1429 Benign familial 1245 BIDS syndrome 1227 Bangstad syndrome 1945 Benign familial epilepsy of childhood with 141333 Biemon syndrome type 2 1228 Banki syndrome rolandic spikes 41751 Bietti crystalline dystrophy 109 Bannayan-Riley-Ruvalcaba syndrome 181434 Benign familial hypobetalipoproteinemia 2695 Bifid nose 289539 BAP1-related tumor predisposition syndrome 306 Benign familial infantile seizures 99771 Bifid uvula 1231 Barber-Say syndrome 163717 Benign familial mesial temporal lobe epilepsy 300 Bifunctional deficiency 110 Bardet-Biedl syndrome 1949 Benign familial neonatal seizures 983 Bilateral 111 140927 Benign familial neonatal-infantile seizures 137920 Bilateral choanal atresia

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 9 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 208444 Bilateral frontal 293707 Blepharophimosis-intellectual deficit 295132 of , unilateral syndrome, MKB type 101070 Bilateral frontoparietal polymicrogyria 93388 Brachydactyly type A1 2728 Blepharophimosis-intellectual deficit 208447 Bilateral generalized polymicrogyria 93396 Brachydactyly type A2 syndrome, Ohdo type 140963 Bilateral microtia - deafness - cleft palate 93394 Brachydactyly type A4 3047 Blepharophimosis-intellectual deficit 97364 Bilateral multicystic renal dysplasia syndrome, SBBYS type 93389 Brachydactyly type A5 208441 Bilateral parasagittal parieto-occipital 293725 Blepharophimosis-intellectual deficit 93382 Brachydactyly type A6 polymicrogyria syndrome, Verloes type 93397 Brachydactyly type A7 98889 Bilateral perisylvian polymicrogyria 1258 Blepharoptosis - cleft palate - - 93383 Brachydactyly type B 268940 Bilateral polymicrogyria dental anomalies 140908 Brachydactyly type B2 1848 Bilateral renal agenesis 1259 Blepharoptosis - myopia - 93384 Brachydactyly type C 93173 Bilateral renal dysplasia 93964 Blepharospasm - oromandibular dystonia 93387 Brachydactyly type E 97362 Bilateral renal hypoplasia 171844 Blindness - scoliosis - arachnodactyly 93409 Brachydactyly-syndactyly, Zhao type 1980 Bilateral striopallidodentate 125 1292 Brachymorphism - onychodysplasia - 276066 Bile acid CoA ligase deficiency and defective 2768 Blount disease dysphalangism amidation 16 Blue cone monochromatism 1293 Brachyolmia 30391 Biliary atresia 94086 Blue diaper syndrome 93301 Brachyolmia type 1, Hobaek type 244283 Biliary atresia with splenic malformation 1059 Blue rubber bleb nevus 93303 Brachyolmia type 1, Toledo type syndrome 217266 BNAR syndrome 93302 Brachyolmia type 2 3438 Biliary tract malformation - renal failure 217008 Bockenheimer syndrome 93304 Brachyolmia type 3 98836 Bilineal acute leukemia 91135 Body skin hyperlaxity due to 79345 Brachytelephalangic chondrodysplasia 1249 Binswanger disease K-dependent coagulation factor deficiency punctata 79241 97297 Bohring-Opitz syndrome 1295 Brachytelephalangy - dysmorphism - 65284 Biotin-responsive disease 1844 Bone dysplasia, Azouz type 2617 Bird headed-dwarfism, Montreal type 1261 Bonnemann-Meinecke-Reich syndrome 52047 Braddock syndrome 122 Birt-Hogg-Dube syndrome 1262 Book syndrome 75374 Bradyopsia 123 Björnstad syndrome 1263 178506 Brain calcification, Rajab type 124 Blackfan-Diamond disease 107 BOR syndrome 168598 Brain demyelination due to adenosyltransferase deficiency 93930 Bladder exstrophy 206473 Borderline ovarian epithelial tumor 75389 Brain malformation - congenital heart 1250 Blaichman syndrome 127 Borjeson-Forssman-Lehmann syndrome disease - postaxial polydactyly 98922 Blake's pouch cyst 69737 Bosley-Salih-Alorainy syndrome 36414 Brain stem tumor 86870 Blastic NK-cell lymphoma 85128 Bothnia retinal dystrophy 209905 Brain-lung-thyroid syndrome 90340 Blau syndrome 1267 Botulism 50815 Branchiogenic deafness syndrome 73271 Bleeding diathesis due to a receptor 83313 Boutonneuse fever 1297 Branchio-oculo-facial syndrome defect 3331 Bowed tibiae - radial anomalies - osteopenia 52429 Branchio-otic syndrome 98885 Bleeding diathesis due to VI - fractures deficiency 1299 Branchio-skeleto-genital syndrome 1270 Bowen-Conradi syndrome 98886 Bleeding diathesis due to alpha2- 85284 BRESEK syndrome 2619 Brachydactylous dwarfism, Mseleni type beta1 deficiency 99990 Brill-Zinsser disease 1273 Brachydactyly - anonychia 220443 Bleeding diathesis due to thromboxane 90354 Brittle syndrome synthesis deficiency 1276 Brachydactyly - arterial hypertension 3123 Brittle hair syndrome, Sabinas type 1997 Blepharo-cheilo-odontic syndrome 1275 Brachydactyly - wrist dysplasia 53347 Brody myopathy 1251 Blepharo-facio-skeletal syndrome 2946 Brachydactyly - long thumb 97287 Bronchial endocrine tumor 1252 Blepharonasofacial malformation syndrome 1277 Brachydactyly - - intellectual deficit - heart defects 1303 Bronchiolitis obliterans with obstructive 126 Blepharophimosis - epicanthus inversus - pulmonary disease ptosis 1246 Brachydactyly - - cerebellar ataxia 2357 Bronchogenic cyst 261572 Blepharophimosis - epicanthus inversus - 1278 Brachydactyly - preaxial hallux varus ptosis due to a point mutation 70589 Bronchopulmonary dysplasia 1280 Brachydactyly - tibial hypoplasia 261579 Blepharophimosis - epicanthus inversus - 79493 Brooke-Spiegler syndrome 294996 Brachydactyly of ptosis due to polyA expansion 97229 Brown-Vialetto-van Laere syndrome 295130 Brachydactyly of fingers, bilateral 261559 Blepharophimosis - epicanthus inversus - 1304 Brucellosis ptosis, due to 3q23 microdeletion 295128 Brachydactyly of fingers, unilateral 2771 Bruck syndrome 2057 Blepharophimosis - ptosis - esotropia - 294998 Brachydactyly of toes 130 Brugada syndrome syndactyly - short stature 295134 Brachydactyly of toes, bilateral 1256 Blepharophimosis - radioulnar 131 Budd-Chiari syndrome

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 10 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 36258 Buerger's disease 147 Carbamoylphosphate synthetase deficiency 1380 Cataract - nephropathy - encephalopathy 280785 Bullous diffuse cutaneous mastocytosis 213605 Carcinofibroma of the corpus uteri 98985 Cataract with Y-shaped suture opacities 1867 Bullous dystrophy, macular type 100093 Carcinoid tumor and 98986 Cataract, Coppock-like 36237 Bullous impetigo 300557 Carcinoma of the ampulla of Vater 98987 Cataract, Hutterite type 33408 Bullous lichen planus 56044 Carcinoma of the 162 Cataract- 703 Bullous 137628 Cardiac anomalies - heterotaxy 1377 Cataract-microcornea syndrome 46489 Bullous systemic 1686 Cardiac diverticulum 3286 Catecholaminergic polymorphic ventricular tachycardia 543 2872 Cardiocranial syndrome, Pfeiffer type 1388 Catel-Manzke syndrome 1306 Buschke-Ollendorff syndrome 37553 Cardiodysrythmic potassium-sensitive periodic paralysis 195 Cat-eye syndrome 99001 Butterfly-shaped pigment dystrophy 1340 Cardiofaciocutaneous syndrome 50839 Cat-scratch disease 132 Butyrylcholinesterase deficiency 1345 Cardiomyopathy - cataract - spine 276234 CATSPER1-related non syndromic male 1308 C syndrome disease 93559 C3 deposition glomerulonephritis without 91130 Cardiomyopathy - hypotonia - lactic acidosis 1756 Caudal duplication proliferation 1349 Cardiomyopathy - maternally inherited 3027 Caudal regression sequence 85293 Cabezas syndrome deafness 2124 Cavernous of face - 135 CACH syndrome 90022 Cardiomyopathy - renal anomalies supraumbilical midline raphe 136 CADASIL syndrome 137625 Cardiomyopathy-exercise intolerance due to 165958 Cavitary myiasis 1310 Caffey disease muscle and heart glycogen deficiency 169464 CD59 deficiency 199260 Calcified aponeurotic 3238 Cardiospondylocarpofacial syndrome 79318 CDG syndrome type Ia 280065 Calciphylaxis cutis 99667 Carey syndrome 79319 CDG syndrome type Ib 83483 California encephalitis 1358 Carey-Fineman-Ziter syndrome 79320 CDG syndrome type Ic 85192 Calvarial doughnut lesions - bone fragility 1359 79321 CDG syndrome type Id 99668 Camarena syndrome 139411 Carney triad 79322 CDG syndrome type Ie 83472 CAMOS syndrome 97286 Carney-Stratakis syndrome 79323 CDG syndrome type If 1318 Campomelia, Cumming type 156 palmitoyl transferase 1A deficiency 79324 CDG syndrome type Ig 140 157 Carnitine palmitoyl transferase II deficiency 79325 CDG syndrome type Ih 1319 Camptobrachydactyly 228302 Carnitine palmitoyl transferase II deficiency, 79326 CDG syndrome type Ii 1320 Camptocormia myopathic form 86309 CDG syndrome type Ij 1321 - fibrous tissue hyperplasia - 228308 Carnitine palmitoyl transferase II deficiency, 79327 CDG syndrome type Ik skeletal dysplasia neonatal form 79328 CDG syndrome type IL 1323 Camptodactyly - joint contractures - facial 228305 Carnitine palmitoyl transferase II deficiency, skeletal defects severe infantile form 91131 CDG syndrome type Im 85164 Camptodactyly - tall stature - scoliosis - 158 Carnitine uptake deficiency 244310 CDG syndrome type In hearing loss 159 Carnitine-acylcarnitine translocase deficiency 263494 CDG syndrome type Io 1325 Camptodactyly - taurinuria 1361 280071 CDG syndrome type Ip 295016 Camptodactyly of fingers 53035 Caroli disease 300536 CDG syndrome type Ir 1327 Camptodactyly syndrome, Guadalajara type 1 1362 Carpal deformity - micrognathia - 79329 CDG syndrome type IIa 1326 Camptodactyly syndrome, Guadalajara type 2 79330 CDG syndrome type IIb 2848 Camptodactyly-arthropathy-coxa-vara- 65759 79332 CDG syndrome type IId pericarditis syndrome 93973 Carpenter-Waziri syndrome 79333 CDG syndrome type IIe 1328 Camurati-Engelmann disease 2767 Carpotarsal 238459 CDG syndrome type IIf 141 Canavan disease 175 -hair hypoplasia 263508 CDG syndrome type IIg 71505 -associated retinopathy 160 Castleman disease 95428 CDG syndrome type IIh 71279 CANOMAD syndrome 1373 Cataract - aberrant oral frenula - growth 263487 CDG syndrome type IIi 1335 Cantrell pentalogy delay 263501 CDG syndrome type IIj 1517 Cantu syndrome 1368 Cataract - ataxia - deafness 66631 CEDNIK syndrome 171881 Cap myopathy 1369 Cataract - cardiomyopathy 1459 Celiac disease, epilepsy and cerebral 160148 Cap polyposis 1383 Cataract - deafness - hypogonadism calcification syndrome 188 leak syndrome 1375 Cataract - hypertrichosis - intellectual deficit 293208 Celiac trunk compression syndrome 137667 Capillary malformation-arteriovenous 1381 Cataract - intellectual deficit - anal atresia - 93942 Celosomia malformation urinary defects 3258 Cenani-Lenz syndactyly 199354 CARASIL syndrome 1387 Cataract - intellectual deficit - hypogonadism

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 11 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 75377 Central areolar choroidal dystrophy 98979 Chandler syndrome 173 Cholera 2431 Central bilateral macrogyria 88642 Channelopathy-associated congenital 1414 Cholestasis - lymphedema insensitivity to pain 98972 Central cloudy dystrophy of Francois 1415 Cholestasis - pigmentary retinopathy - cleft 3282 Chaotic atrial tachycardia palate 597 Central core disease 46627 Char syndrome 79506 -ester transfer deficiency 178029 Central 90103 Charcot-Marie-Tooth disease - deafness - 75234 Cholesteryl ester storage disease 3240 Central calcification - intellectual deficit deafness - tubular acidosis - anemia 1422 Chondrodysplasia - disorder of sex 93114 Charcot-Marie-Tooth disease - nephropathy development 73256 Central neurocytoma 65753 Charcot-Marie-Tooth disease type 1 1424 Chondrodysplasia - situs inversus - 295004 Central polydactyly of fingers imperforate anus - polydactyly 101081 Charcot-Marie-Tooth disease type 1A 295173 Central polydactyly of fingers, bilateral 79344 Chondrodysplasia punctata, Sheffield type 101082 Charcot-Marie-Tooth disease type 1B 295171 Central polydactyly of fingers, unilateral 79346 Chondrodysplasia punctata, tibial-metacarpal 101083 Charcot-Marie-Tooth disease type 1C 295010 Central polydactyly of toes type 101084 Charcot-Marie-Tooth disease type 1D 295185 Central polydactyly of toes, bilateral 79347 Chondrodysplasia punctata, Toriello type 90658 Charcot-Marie-Tooth disease type 1E 295183 Central polydactyly of toes, unilateral 280586 Chondrodysplasia with joint dislocations, 101085 Charcot-Marie-Tooth disease type 1F 759 Central precocious gPAPP type 98856 Charcot-Marie-Tooth disease type 2B1 90156 Centrifugal lipodystrophy 50945 Chondrodysplasia, Blomstrand type 101101 Charcot-Marie-Tooth disease type 2B2 89841 Centripetal dystrophic epidermolysis bullosa 55880 Chondrosarcoma 101102 Charcot-Marie-Tooth disease type 2H 1171 Cerebellar ataxia - areflexia - - 251674 Chordoid glioma optic atrophy - sensorineural hearing loss 64749 Charcot-Marie-Tooth disease type 4 178 Chordoma 1174 Cerebellar ataxia - ectodermal dysplasia 99948 Charcot-Marie-Tooth disease type 4A 2388 Choreoacanthocytosis 1173 Cerebellar ataxia - hypogonadism 99955 Charcot-Marie-Tooth disease type 4B1 252015 Choriocarcinoma of the central nervous 94122 Cerebellar ataxia, Cayman type 99956 Charcot-Marie-Tooth disease type 4B2 system 2246 - tapetoretinal 99949 Charcot-Marie-Tooth disease type 4C 179 Chorioretinopathy, Birdshot type degeneration 99950 Charcot-Marie-Tooth disease type 4D 91353 Choristoma 251931 Cerebellar liponeurocytoma 99951 Charcot-Marie-Tooth disease type 4E 251899 Choroid plexus carcinoma 1397 Cerebellum agenesis - hydrocephaly 99952 Charcot-Marie-Tooth disease type 4F 1433 Choroidal atrophy - alopecia 46724 Cerebral 99953 Charcot-Marie-Tooth disease type 4G 180 2081 Cerebral - jaw 99954 Charcot-Marie-Tooth disease type 4H 1435 Choroideremia - deafness - obesity 276410 Cerebral vasculopathy with early-onset stroke 139515 Charcot-Marie-Tooth disease type 4J 1434 Choroideremia - 1393 Cerebro-costo-mandibular syndrome 138 CHARGE syndrome 181 Christ-Siemens-Touraine syndrome 141194 Cerebrofacial arteriovenous metameric 1406 Charlie M syndrome 182 Chromomycosis syndrome type 1 167 Chediak-Higashi syndrome 2137 Chronic autoimmune hepatitis 141199 Cerebrofacial arteriovenous metameric 67038 Chronic B-cell lymphocytic leukemia syndrome type 3 1221 glandularis 133 Chronic berylliosis 1394 Cerebro-facio-thoracic dysplasia 99647 Cheiro-spondyloenchondromatosis 103907 Chronic diarrhea due to glucoamylase 66625 Cerebro-oculo-nasal syndrome 184 deficiency 1396 Cerebro-reno-digital syndrome 90280 Chilblain lupus 1670 Chronic diarrhea with villous atrophy 3421 Cerebroretinal vasculopathy 139 CHILD syndrome 168940 Chronic eosinophilic leukemia 909 Cerebrotendinous xanthomatosis 64280 Childhood absence epilepsy 99921 Chronic graft versus host disease 98989 Cerulean cataract 168782 Childhood disintegrative disorder 379 Chronic granulomatous disease 99079 Cervical aorta arch 293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 95161 Chronic hepatic porphyria 141046 Cervical 284324 Childhood-onset autosomal recessive slowly 396 Chronic hiccup 93962 Cervical dystonia progressive 2932 Chronic inflammatory demyelinating 2218 Cervical hypertrichosis - peripheral 217046 Childhood-onset cortical cataract polyneuropathy neuropathy 247667 Childhood-onset hypophosphatasia 294422 Chronic intestinal failure 268392 Cervical aperta 209341 Childhood-onset proximal spinal muscular 2978 Chronic intestinal pseudo-obstruction 268762 Cervical spina bifida cystica atrophy, autosomal dominant 1334 Chronic mucocutaneous candidiasis 141067 Cervicofacial fibrochondroma 137914 Choanal atresia 521 Chronic myeloid leukemia 137923 Cervicofacial 1200 Choanal atresia - deafness - cardiac defects - 98823 Chronic myelomonocytic leukemia 268397 Cervicothoracic spina bifida aperta dysmorphism 86829 Chronic neutrophilic leukemia 268766 Cervicothoracic spina bifida cystica 70567 Cholangiocarcinoma 95426 Chronic pain requiring intraspinal analgesia 1401 CHAND syndrome 2359 Choledochal cyst - hand malformation 91359 Chronic pneumonitis of infancy

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 12 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 97557 Chronic proteinuria with focal and segmental 2014 Cleft palate 157820 Cold-induced sweating syndrome hyalinosis 2013 Cleft palate - large ears - small head 2050 Cole-Carpenter syndrome 217566 Chronic respiratory distress with surfactant 2015 Cleft palate - short stature - vertebral 84087 Collagen type III glomerulopathy metabolism deficiency anomalies 36205 Collagenous colitis 70591 Chronic thromboembolic pulmonary 2010 Cleft palate - stapes fixation - oligodontia hypertension 247203 Collecting duct carcinoma 2016 Cleft palate-lateral synechia syndrome 263463 CHST3-related skeletal dysplasia 98942 Coloboma of choroid and 99772 Cleft velum 93971 Chudley-Lowry-Hoar syndrome 98943 Coloboma of eye 1453 Cleido rhizomelic syndrome 183 Churg-Strauss syndrome 98946 Coloboma of 1452 Cleidocranial dysplasia 238557 Chuvash erythrocytosis 98944 Coloboma of iris 284448 CLIPPERS 79297 Chylomicron retention - Marinesco-Sjögren 98945 Coloboma of macula 228329 CLN1 disease syndrome 1471 Coloboma of macula - brachydactyly type B 228337 CLN10 disease 71 Chylomicron retention disease 98947 Coloboma of optic papilla 228349 CLN2 disease 1160 Chylous 98938 Colobomatous microphthalmia 228346 CLN3 disease 1451 CINCA syndrome 100080 Colon endocrine tumor 228340 CLN4A disease 93365 CINCA syndrome with CIAS1 1198 Colonic atresia 228343 CLN4B disease 93367 CINCA syndrome without CIAS1 mutations 83595 Colorado tick fever 228360 CLN5 disease 1114 Circumscribed cutaneous aplasia of the 35909 Combined deficiency of factor V and factor vertex 228363 CLN6 disease VIII 217410 Circumscribed lymphatic malformation 228366 CLN7 disease 221078 Combined hyperactive dysfunction syndrome of the cranial nerves 69744 Circumscribed palmoplantar hypokeratosis 228354 CLN8 disease 169082 Combined immunodeficiency due to 57777 Cirrhotic cardiomyopathy 228357 CLN9 disease CD3gamma deficiency 187 Citrullinemia 93929 Cloacal exstrophy 911 Combined immunodeficiency due to ZAP70 247525 Citrullinemia type I 221083 Clonic hemifacial spasm deficiency 247585 Citrullinemia type II 268366 Closed 221139 Combined immunodeficiency with facio- 251383 CK syndrome 189 Clouston syndrome oculo-skeletal anomalies 168984 CLAPO syndrome 140944 CLOVE syndrome 289504 Combined malonic and 93605 Classic Bartter syndrome 100978 Cloverleaf - asphyxiating thoracic 254920 Combined oxidative phosphorylation defect 79239 Classic galactosemia dysplasia type 2 268145 Classic maple syrup disease 93267 Cloverleaf skull - multiple congenital anomalies 254925 Combined oxidative phosphorylation defect 158796 Classic mast cell leukemia type 4 1967 Coarse face - hypotonia - constipation 247775 Classic Mayer-Rokitansky-Küster-Hauser 254930 Combined oxidative phosphorylation defect syndrome 190 Coats disease type 7 251867 Classic medulloblastoma 53721 Cobb syndrome 95494 Combined pituitary hormone deficiencies, 216866 Classic pantothenate kinase associated 1911 Cocaine embryofetopathy genetic forms neurodegeneration 90068 Cocaine poisoning 300564 Combined pulmonary -emphysema syndrome 163898 Classic paraneoplastic limbic encephalitis 228123 Coccidioidomycosis 141276 Commissural facial cleft 99864 Classic seminoma 3233 Cochleosaccular degeneration - cataract 141061 Commissural lip fistula 394 Classical 191 98864 Common hereditary elliptocytosis 2584 Classical mycosis fungoides 90321 Cockayne syndrome type 1 620 Common mesentery 79254 Classical 90322 Cockayne syndrome type 2 1572 Common variable immunodeficiency 240071 Classical progressive supranuclear palsy 90324 Cockayne syndrome type 3 101023 Cleft hard palate 77303 Common variable immunodeficiency due to 1458 CODAS syndrome an intrinsic B cell defect 1995 Cleft lip - retinopathy 35656 Coenzyme Q 10 deficiency 99831 Common variable immunodeficiency due to 199306 Cleft lip/palate 192 Coffin-Lowry syndrome an intrinsic T cell defect 2003 Cleft lip/palate - deafness - sacral 1465 Coffin-Siris syndrome 183672 Common variable immunodeficiency due to TNFR deficiency 99685 Cleft lip/palate - ectodermal dysplasia - acral 1466 COFS syndrome anomalies 231205 Common variable immunodeficiency without 1467 Cogan syndrome 2001 Cleft lip/palate - - known genetic defect cardiopathy 98980 Cogan-Reese syndrome 280821 Communicating congenital 159806 Cleft lip/palate - oligodontia - syndactyly - 193 Cohen syndrome bronchopulmonary-foregut malformation hair defect 31824 Colchicine poisoning 280133 Complement component 3 deficiency 95465 Cleft mitral valve 56425

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 13 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 93553 Complement component receptor 1 973 Congenital absence/hypoplasia of fingers 264688 Congenital deficiency excluding thumb, unilateral 269505 Congenital communicating 99429 Complete androgen insensitivity syndrome 294988 Congenital absence/hypoplasia of thumb 99129 Congenital complete agenesis of pericardium 1329 Complete atrioventricular canal 295112 Congenital absence/hypoplasia of thumb, 115 Congenital contractural arachnodactyly bilateral 99068 Complete atrioventricular canal - Fallot 53691 Congenital cornea plana tetralogy 295110 Congenital absence/hypoplasia of thumb, unilateral 95491 Congenital coronary artery aneurysm 99066 Complete atrioventricular canal - left heart obstruction 418 Congenital adrenal hyperplasia 168612 Congenital deficiency in alpha-fetoprotein 99067 Complete atrioventricular canal - ventricle 90795 Congenital adrenal hyperplasia due to 2140 Congenital hypoplasia 11-beta-hydroxylase deficiency 85 Congenital dyserythropoietic anemia 98949 Complete cryptophthalmia 90793 Congenital adrenal hyperplasia due to 293825 Congenital dyserythropoietic anemia due to 17-alpha-hydroxylase deficiency 289916 Complete deficiency of methylmalonyl-CoA KLF1 mutation mutase 90794 Congenital adrenal hyperplasia due to 98869 Congenital dyserythropoietic anemia type 1 21-hydroxylase deficiency, classic form 83452 Complex regional pain syndrome 98873 Congenital dyserythropoietic anemia type 2 90791 Congenital adrenal hyperplasia due to 99995 Complex regional pain syndrome type 1 3-beta-hydroxysteroid dehydrogenase 98870 Congenital dyserythropoietic anemia type 3 99994 Complex regional pain syndrome type 2 deficiency 91491 Congenital uveae 98888 Complex X-linked hereditary spastic 95699 Congenital adrenal hyperplasia due to 295032 Congenital elbow dislocation paraplegia cytochrome P450 oxidoreductase deficiency 295227 Congenital elbow dislocation, bilateral 280248 Complicated spastic paraplegia type 2 95701 Congenital adrenal hypoplasia of maternal 295225 Congenital elbow dislocation, unilateral 168966 Composite lymphoma cause 79 Congenital alpha2 antiplasmin deficiency 103910 Congenital enterocyte heparan sulfate 57196 Condensing osteitis of the medial deficiency 210122 Congenital alveolar capillary dysplasia 3216 Conductive deafness - malformed external ear 168601 Congenital enteropathy due to 3236 Conductive deafness - ptosis - skeletal 3319 Congenital amegakaryocytic enteropeptidase deficiency thrombocytopenia anomalies 292 Congenital enterovirus infection 86816 Congenital analbuminemia 209932 with supernormal rod 70596 Congenital Epstein-Barr virus infection response 95507 Congenital anomaly of hepatic vein 157826 Congenital 1872 Cone rod dystrophy 95498 Congenital anomaly of superior vena cava 231573 Congenital erosive and vesicular dermatosis 221142 Confetti-like macular atrophy 95500 Congenital anomaly of the coronary sinus 79277 Congenital erythropoietic porphyria 3091 Congenital abnormal systemic venous return 95499 Congenital anomaly of the inferior vena cava 91358 Congenital esophageal diverticulum 294979 Congenital absence of both and 79143 Congenital anonychia hand 99176 Congenital eyelid retraction 95449 Congenital aortic valve insufficiency 295095 Congenital absence of both forearm and 325 Congenital factor II deficiency 3093 Congenital aortic valve stenosis hand, bilateral 326 Congenital factor V deficiency 48 Congenital bilateral absence of 295093 Congenital absence of both forearm and 327 Congenital factor VII deficiency hand, unilateral 93177 Congenital bilateral megacalycosis 328 Congenital factor X deficiency 294981 Congenital absence of both lower leg and 79301 Congenital bile acid synthesis defect type 1 foot 329 Congenital factor XI deficiency 79303 Congenital bile acid synthesis defect type 2 295099 Congenital absence of both lower leg and 330 Congenital factor XII deficiency 79302 Congenital bile acid synthesis defect type 3 foot, bilateral 331 Congenital factor XIII deficiency 79095 Congenital bile acid synthesis defect type 4 295097 Congenital absence of both lower leg and 2020 Congenital fiber-type disproportion myopathy foot, unilateral 300337 Congenital blindness due to retinal nonattachment 335 Congenital fibrinogen deficiency 294977 Congenital absence of thigh and lower leg with foot present 2292 Congenital bowing of long 45358 Congenital fibrosis of extraocular muscles 295091 Congenital absence of thigh and lower leg 71278 Congenital brain dysgenesis due to 90336 Congenital generalized hypertrichosis, with foot present, bilateral synthetase deficiency Ambras type 295089 Congenital absence of thigh and lower leg 2040 Congenital bronchobiliary fistula 295232 Congenital genu flexum with foot present, unilateral 1376 Congenital cataract - ichthyosis 295229 Congenital 294975 Congenital absence of upper and forearm 289499 Congenital cataract microcornea with corneal 98976 Congenital glaucoma with hand present opacity 60041 Congenital heart block 295087 Congenital absence of upper arm and forearm 98983 Congenital cataract, Volkmann type 98975 Congenital hereditary endothelial dystrophy I with hand present, bilateral 300313 Congenital cataract-hearing loss-severe 293603 Congenital hereditary endothelial dystrophy 295085 Congenital absence of upper arm and forearm developmental delay syndrome II with hand present, unilateral 48431 Congenital - facial dysmorphism - 293 Congenital herpes virus infection 294990 Congenital absence/hypoplasia of fingers neuropathy excluding thumb 483 Congenital high-molecular-weight kininogen 95501 Congenital central diabetes insipidus deficiency 295114 Congenital absence/hypoplasia of fingers excluding thumb, bilateral 53689 Congenital chloride diarrhea 91413 Congenital Horner syndrome

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 14 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 2185 Congenital hydrocephalus 52428 Congenital muscular dystrophy type 1C 2444 Congenital pulmonary airway malformation of the lung 268874 Congenital hydromyelia 98894 Congenital muscular dystrophy type 1D 280827 Congenital pulmonary airway malformation, 2190 Congenital 34520 Congenital muscular dystrophy with integrin type 0 deficiency 2113 Congenital hypothalamic 280832 Congenital pulmonary airway malformation, syndrome 272 Congenital muscular dystrophy, Fukuyama type 1 type 442 Congenital hypothyroidism 280840 Congenital pulmonary airway malformation, 75840 Congenital muscular dystrophy, Ullrich type 226313 Congenital hypothyroidism due to maternal type 2 intake of antithyroid drugs 590 Congenital myasthenic syndromes 280847 Congenital pulmonary airway malformation, 95715 Congenital hypothyroidism due to 97245 Congenital myopathy type 3 transplacental passage of maternal TSH- 98904 Congenital myopathy with excess of thin 280854 Congenital pulmonary airway malformation, binding inhibitory antibodies filaments type 4 79458 Congenital hypotrichosis milia 199329 Congenital myopathy, Paradas type 264675 Congenital pulmonary alveolar proteinosis 2271 Congenital ichthyosis - microcephalus - 831 Congenital narrowing of cervical spinal canal 2414 Congenital pulmonary lymphangiectasia quadriplegia 162521 Congenital nasal pyriform aperture stenosis 3161 Congenital 217399 Congenital insensitivity to pain with with holoprosencephaly 3189 Congenital pulmonary valve stenosis 839 Congenital nephrotic syndrome, Finnish type 90360 Congenital intestinal lymphangiectasia 3188 Congenital pulmonary stenosis 168486 Congenital neuronal ceroid lipofuscinosis 1229 Congenital intrauterine infection-like 3090 Congenital pulmonary venous return anomaly syndrome 79394 Congenital nonbullous ichthyosiform 97598 Congenital erythroderma 332 Congenital intrinsic factor deficiency 281190 Congenital reticular ichthyosiform 269510 Congenital non-communicating 199296 Congenital isolated ACTH deficiency erythroderma hydrocephalus 209893 Congenital isolated thyroxine-binding 290 Congenital Rubella syndrome 79144 Congenital onychodysplasia globulin deficiency 238536 Congenital secondary polycythemia 2772 Congenital - 295034 Congenital dislocation microcephaly - cataracts 2301 Congenital short bowel 53690 Congenital lactase deficiency 139414 Congenital panfollicular nevus 295030 Congenital dislocation 141124 Congenital 99130 Congenital partial agenesis of pericardium 93400 Congenital sialidosis type 2 137932 Congenital laryngeal palsy 99124 Congenital partial pulmonary venous return 263435 Congenital hamartoma 2374 Congenital laryngeal web anomaly 103908 Congenital sodium diarrhea 2373 Congenital 295036 Congenital patella dislocation 215 Congenital stationary night blindness 1954 Congenital lethal erythroderma 295237 Congenital patella dislocation, bilateral 99122 Congenital stenosis of the inferior vena cava 210163 Congenital lethal myopathy, Compton-North 295234 Congenital patella dislocation, unilateral 101068 Congenital stromal corneal dystrophy type 99072 Congenital 141121 Congenital 90790 Congenital lipoid adrenal hyperplasia aneurysm 35122 Congenital sucrase-isomaltase deficiency 238691 Congenital liver 2846 Congenital pericardium anomaly 99059 Congenital supravalvular mitral ring 1928 Congenital lobar emphysema 465 Congenital plasminogen activator inhibitor type 1 deficiency 98948 Congenital symblepharon 2430 Congenital 749 Congenital prekallikrein deficiency 141214 Congenital syngnathia 83620 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells 83461 Congenital primary 210576 Congenital ankylosis 93109 Congenital megacalycosis 2416 Congenital primary lymphedema 93583 Congenital thrombotic thrombocytopenic 2665 Congenital 617 Congenital primary megaureter purpura due to ADAMTS-13 deficiency 566 Congenital microcoria 238654 Congenital primary megaureter, nonrefluxing 99125 Congenital total pulmonary venous return and unobstructed form 199293 Congenital microgastria anomaly 238646 Congenital primary megaureter, obstructed 99057 Congenital mitral stenosis 858 Congenital toxoplasmosis form 98905 Congenital multicore myopathy with external 141127 Congenital tracheal stenosis 238650 Congenital primary megaureter, refluxing ophthalmoplegia form 95430 Congenital 97242 Congenital muscular dystrophy 66630 Congenital pseudoarthrosis of clavicle 95459 Congenital tricuspid stenosis 1875 Congenital muscular dystrophy - infantile 295020 Congenital pseudoarthrosis of the 231013 Congenital trigeminal anesthesia cataract - hypogonadism 295022 Congenital pseudoarthrosis of the 98686 Congenital trochlear nerve palsy 157973 Congenital muscular dystrophy due to LMNA mutation 157808 Congenital pseudoarthrosis of the leg 99060 Congenital unguarded mitral orifice 280671 Congenital muscular dystrophy due to 295024 Congenital pseudoarthrosis of the 2258 Congenital unilateral phosphatidyl choline defect 295018 Congenital pseudoarthrosis of the tibia 1864 Congenital valvular dysplasia 258 Congenital muscular dystrophy type 1A 295026 Congenital pseudoarthrosis of the 2291 Congenital velopharyngeal incompetence 98893 Congenital muscular dystrophy type 1B 91411 Congenital ptosis 178382 Congenital vertical talus

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 15 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 295203 Congenital vertical talus, bilateral 3071 90290 CREST syndrome 295201 Congenital vertical talus, unilateral 1502 Cote-Katsantoni syndrome 204 Creutzfeldt-Jakob disease 216694 Congenitally corrected transposition of the 201 205 Crigler-Najjar syndrome great 1508 Coxoauricular syndrome 79234 Crigler-Najjar syndrome type 1 2391 Congenitally short costocoracoid ligament 1509 Coxo-podo-patellar syndrome 79235 Crigler-Najjar syndrome type 2 216729 Congenitally uncorrected transposition of the 202 Crandall syndrome 99827 Crimean-Congo hemorrhagic fever great arteries with cardiac malformation 1512 Crane-Heise syndrome 1545 Crisponi syndrome 99042 Congenitally uncorrected transposition of the great arteries with coarctation 268820 Cranial meningocele 1461 Criss-cross heart 300284 disorder due to lysyl 1339 Cranioacrofacial syndrome 2930 Cronkhite-Canada syndrome hydroxylase-3 deficiency 1513 Craniodiaphyseal dysplasia 2935 Crossed polysyndactyly 2445 Conotruncal heart malformations 1514 Craniodigital syndrome - intellectual deficit 207 Crouzon disease 293830 Constitutional dyserythropoietic anemia 1515 Cranioectodermal dysplasia 93262 - acanthosis nigricans 252202 Constitutional mismatch repair deficiency 85168 Craniofacial conodysplasia 1546 Cryptococcosis syndrome 1789 Craniofacial dysostosis - arthrogryposis - 163708 Cryptogenic late-onset epileptic spasms 295000 Constriction rings syndrome progeroid appearance 1302 Cryptogenic organizing pneumonia 725 Continuous spike-wave during slow sleep 1516 Craniofacial dyssynostosis syndrome 1547 Cryptomicrotia - brachydactyly - excess 1529 Craniofacial-deafness-hand syndrome fingertip arch 1484 Contractures - ectodermal dysplasia - cleft lip/palate 293843 Craniofacial-ulnar-renal syndrome 1548 - arachnodactyly - intellectual deficit 1487 Cooks syndrome 1800 Craniofaciocervical osteoglyphic dysplasia 1549 Cryptosporidiosis 1488 Cooper-Jabs syndrome 1520 Craniofrontonasal dysplasia 1552 Currarino triad 99098 Cor triatriatum dexter 1521 Craniofrontonasal dysplasia - Poland anomaly 1553 Curry-Jones syndrome 99099 Cor triatriatum sinister 50814 Craniolenticulosutural dysplasia 96253 Cushing disease 98990 Coralliform cataract 85184 Craniometadiaphyseal dysplasia, wormian bone type 553 Cushing syndrome 180118 Cordiformis uterus 1522 Craniometaphyseal dysplasia 137807 Cutaneous amyloidosis 1051 Corneal anesthesia - deafness - intellectual deficit 1524 Craniomicromelic syndrome 280779 Cutaneous collagenous vasculopathy 1490 Corneal dystrophy - perceptive deafness 1525 Cranio-osteoarthropathy 889 Cutaneous leukocytoclastic angiitis 171673 Corneal lesions with associated corneal stem 54595 Craniopharyngioma 535 Cutaneous lupus erythematosus cell deficiency due to ocular burns 63260 Craniorachischisis 79455 Cutaneous 3177 Corneal-cerebellar syndrome 157832 Craniorhiny 66646 Cutaneous mastocytosis 199 Cornelia de Lange syndrome 85199 Craniosynostosis - anal anomalies - 79140 Cutaneous neuroendocrine carcinoma 99786 Coronal 2881 Cutaneous photosensitivity - lethal colitis 1530 Craniosynostosis - cataract 2041 Coronary arterial fistulas 1555 Cutis gyrata - acanthosis nigricans - 1081 Coronary artery congenital malformation 1538 Craniosynostosis - Dandy-Walker - craniosynostosis hydrocephalus 94062 Coronary artery disease - hyperlipidemia - 209 Cutis laxa 1535 Craniosynostosis - dysmorphism - hypertension - diabetes - 221145 Cutis laxa with severe pulmonary, brachydactyly 99085 Coronary artery intramyocardial course gastrointestinal and urinary anomalies 1533 Craniosynostosis - fibular aplasia 99118 Coronary sinus atresia 171719 Cutis laxa-Marfanoid syndrome 171839 Craniosynostosis - hydrocephalus - Chiari I 1556 Cutis marmorata telangiectatica congenita 99117 Coronary sinus stenosis malformation - radioulnar synostosis 671 Cutis verticis gyrata 1492 Corpus callosum agenesis - double urinary 52054 Craniosynostosis - intracranial calcifications collecting system 1557 Cutis verticis gyrata - intellectual deficit 1526 Craniosynostosis - synostoses - hypertensive 1496 Corpus callosum agenesis - neuronopathy nephropathy 217315 Cutis verticis gyrata - - sensorineural deafness 1499 Cortada-Koussef-Matsumoto syndrome 284149 Craniosynostosis and dental anomalies 79482 Cutis verticis gyrata - thyroid aplasia - 99679 Cortes-Lacassie syndrome 1541 Craniosynostosis, Boston type intellectual deficit 1389 Cortical blindness - intellectual deficit - 2145 Craniosynostosis, Herrmann-Opitz type polydactyly 2686 1527 Craniosynostosis, Philadelphia type 300570 Cortical dysgenesis with pontocerebellar 210 Cyclosporosis 1534 Craniosynostosis-radial aplasia, Imaizumi hypoplasia due to TUBB3 mutation 171886 Cylindrical spirals myopathy type 163681 Cortical dysplasia - focal epilepsy syndrome 2674 Cyprus facial-neuromusculoskeletal syndrome 1528 Craniotelencephalic dysplasia 278 Corticobasal degeneration 212 99854 Cree leukoencephalopathy 199247 -binding globulin deficiency 586 Cystic fibrosis 504 Creeping myiasis 54251 Corticosteroid-sensitive aseptic abscesses

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 16 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 2575 Cystic fibrosis - gastritis - megaloblastic 3215 Deafness - white hair - contractures - 86920 Dermatopathia pigmentosa reticularis anemia papillomas 79149 Dermochondrocorneal dystrophy 2111 Cystic hamartoma of lung and kidney 90024 Deafness with labyrinthine aplasia, microtia, 1660 Dermo-odonto dysplasia and 79486 99688 Dermotrichic syndrome 3241 Deafness-craniofacial syndrome 85136 Cystic leukoencephalopathy without 1425 Desbuquois syndrome 94064 Deafness-infertility syndrome 98909 Desminopathy 1560 Cysticercosis 99970 Dedifferentiated 84132 -related myopathy with Mallory body- 213 293978 Deficiency in function- like inclusions variable immunodeficiency syndrome 214 Cystinuria 873 Desmoid disease 26792 Deficiency of short chain acyl-CoA 93612 Cystinuria type A dehydrogenase 251940 Desmoplastic infantile astrocytoma/ 93613 Cystinuria type B ganglioglioma 1578 Dehydratase deficiency 75381 Cystoid macular dystrophy 83469 Desmoplastic small round cell tumor 3202 Dehydrated hereditary stomatocytosis 95702 Cytomegalic congenital adrenal hypoplasia 251863 Desmoplastic/nodular medulloblastoma 64748 Dejerine-Sottas syndrome 137698 Cytomegalovirus disease in patients with 35107 90072 Delayed graft function after impaired cell mediated immunity deemed transplantation 98852 Desquamative interstitial pneumonia at risk 3034 Delayed membranous cranial ossification 163988 Developmental delay - deafness, Hildebrand 94087 Cytophagic histiocytic panniculitis type 3038 Delayed speech - facial asymmetry - 137678 Czech dysplasia, metatarsal type - ear lobe creases 289307 Developmental delay due to methylmalonate 79315 D-2-hydroxyglutaric aciduria semialdehyde dehydrogenase deficiency 1594 Deletion 14qter 1562 Dacryocystitis - 79107 Developmental malformations - deafness - 1611 Deletion 20p dystonia 1563 Dahlberg-Borer-Newcomer syndrome 1625 Deletion 4q 1666 Dextrocardia 1564 Dandy Walker - facial hemangioma 171829 Deletion 6q16 syndrome 93599 D-glycerate dehydrogenase deficiency 1566 Dandy-Walker malformation - postaxial 231237 Delta- polydactyly 941 D-glycericacidemia 97353 Dementia pugilistica 99645 Dappled diaphyseal dysplasia 1926 Diabetic embryopathy 283 Demodicidosis 218 Darier disease 275523 Dianzani autoimmune lymphoproliferative 79134 DEND syndrome disease 2962 De Barsy syndrome 86903 Dendritic cell sarcoma not otherwise 66637 Diaphanospondylodysostosis 3214 Deaf blind syndrome, specified Yemenite type 2141 Diaphragmatic defect - limb deficiency - skull 99828 Dengue defect 3217 Deafness - small bowel diverticulosis - neuropathy 1651 Dennis-Cohen syndrome 85182 Diaphyseal medullary stenosis - bone malignancy 3232 Deafness - ear malformation - facial palsy 1652 Dent disease 103909 Diarrhea- due to trehalase deficiency 3220 Deafness - - nail defects 93622 Dent disease type 1 1671 254898 Deafness - encephaloneuropathy - obesity - 93623 Dent disease type 2 valvulopathy 628 Diastrophic dwarfism 1077 Dental ankylosis 3218 Deafness - epiphyseal dysplasia - short 276603 Diazoxide-resistant focal hyperinsulinism due 101 Dentatorubral-pallidoluysian atrophy stature to Kir6.2 deficiency 1653 Dentin dysplasia 3224 Deafness - genital anomalies - metacarpal 276598 Diazoxide-resistant focal hyperinsulinism due and metatarsal synostosis 99792 Dentin dysplasia - sclerotic bones to SUR1 deficiency 90646 Deafness - hypogonadism 99789 Dentin dysplasia type I 2195 Dicarboxylicaminoaciduria 85321 Deafness - intellectual deficit, Martin-Probst 99791 Dentin dysplasia type II 180086 Didelphys uterus type 49042 Dentinogenesis imperfecta 1672 Diencephalic syndrome 3226 Deafness - lymphedema - leukemia 71267 Dentinogenesis imperfecta - short stature - 1916 Diethylstilbestrol syndrome 3230 Deafness - oligodontia hearing loss - intellectual deficit 90060 Diffuse alveolar hemorrhage 3231 Deafness - onychodystrophy 166260 Dentinogenesis imperfecta type 2 251595 Diffuse astrocytoma 79499 Deafness - onychodystrophy, autosomal 166265 Dentinogenesis imperfecta type 3 79456 Diffuse cutaneous mastocytosis dominant 220 Denys-Drash syndrome 220393 Diffuse cutaneous systemic sclerosis 79500 Deafness - onychodystrophy, autosomal 1656 Dermatitis herpetiformis recessive 544 Diffuse large B-cell lymphoma 1266 Dermato-cardio-skeletal syndrome, Borrone 300849 Diffuse large B-cell lymphoma of the central 3213 Deafness - opticoacoustic nerve atrophy - type dementia nervous system 31112 Dermatofibrosarcoma protuberans 3229 Deafness - peripheral neuropathy - arterial 300888 Diffuse large B-cell lymphoma with chronic disease 1659 Dermatoleukodystrophy 3239 Deafness - - achalasia 221 252031 Diffuse leptomeningeal melanocytosis 1657 Dermatoosteolysis, Kirghizian type 141209 Diffuse lymphatic malformation

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 17 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 2123 Diffuse neonatal hemangiomatosis 1580 Distal monosomy 10p 96098 Distal 6q 86918 Diffuse - 96148 Distal monosomy 10q 96074 Distal trisomy 7p acrocyanosis 280325 Distal monosomy 12p 96100 Distal trisomy 8q 171700 Diffuse panbronchiolitis 96149 Distal monosomy 12q 96101 Distal trisomy 9q 238 Digestive duplication 1590 Distal monosomy 13q 293939 Distal Xq28 microduplication syndrome 141071 Digestive duplication cyst of the tongue 96150 Distal monosomy 14q 1683 Distichiasis - congenital heart defects - 31828 Digitalis poisoning peripheral vascular anomalies 1596 Distal monosomy 15q 1146 Digitotalar dysmorphism 1685 Distomatosis 1597 Distal monosomy 17q 226 Dihydropteridine reductase deficiency 99678 - dental defect - 96129 Distal monosomy 19p13.3 trichodysplasia 1675 Dihydropyrimidine dehydrogenase deficiency 36367 Distal monosomy 1q 231226 Dominant beta-thalassemia 38874 Dihydropyrimidinuria 96152 Distal monosomy 20q 244305 Dominant with 2229 - hypergonadotropic 1620 Distal monosomy 3p nephrolithiasis or osteoporosis hypogonadism 96145 Distal monosomy 4q 2143 Donnai-Barrow syndrome 66634 Dilated cardiomyopathy with ataxia 1627 Distal monosomy 5q 70594 Dopa responsive dystonia due to sepiapterin 243343 Dimethylglycine dehydrogenase deficiency 96125 Distal monosomy 6p reductase deficiency 2816 Diomedi-Bernardi-Placidi syndrome 96126 Distal monosomy 7p 230 Dopamine beta-hydroxylase deficiency 227 1636 Distal monosomy 7q36 255 Dopa-responsive dystonia 1679 Diphtheria 1637 Distal monosomy 8p 98907 Dorfman-Chanarin disease 128 Diphyllobothriasis 1642 Distal 3427 Double outlet left ventricle 1681 Diprosopia 178400 Distal myopathy with anterior tibial onset 3426 Double outlet right ventricle 166291 Dirofilariasis 34521 Distal myopathy with early respiratory muscle 99047 Double outlet right ventricle with doubly 90281 Discoid lupus erythematosus involvement committed ventricular septal defect 99052 Discrete fibromuscular subaortic stenosis 63273 Distal myopathy with posterior leg and 99046 Double outlet right ventricle with non- 99051 Discrete fixed membranous subaortic stenosis anterior hand involvement committed subpulmonary ventricular septal defect 90394 Discrete papular lichen myxedematosus 600 Distal myopathy with vocal cord weakness 99044 Double outlet right ventricle with subaortic 2412 Dislocation of the hip - dysmorphism 602 Distal myopathy, Nonaka type ventricular septal defect 872 Disorder in the hormonal synthesis with or 603 Distal myopathy, Welander type 99045 Double outlet right ventricle with without goiter 3410 Distal obstructive uropathy - polydactyly subpulmonary ventricular septal defect 2983 Disorder of sex development - intellectual 18 Distal renal tubular acidosis 99043 Double outlet right ventricle, Fallot type deficit 139547 Distal spinal muscular atrophy type 3 3411 Double uterus - hemivagina - renal agenesis 345 Dissecting cellulitis of the scalp 3248 Distal symphalangism 95474 Double-orifice mitral valve 71274 Disseminated peritoneal leiomyomatosis 96102 Distal trisomy 10q 79145 Dowling- 79152 Disseminated superficial actinic porokeratosis 96103 Distal trisomy 11q 870 Down syndrome 90391 Disseminated superficial actinic porokeratosis type 1 96105 Distal trisomy 13q 231 Dracunculiasis 90392 Disseminated superficial actinic porokeratosis 1705 Distal trisomy 14q 33069 Dravet syndrome type 2 1707 Distal trisomy 15q 139402 Drug rash with eosinophilia and systemic symptoms 261222 Distal 16p11.2 microdeletion syndrome 96078 Distal trisomy 16p 90037 Drug-induced autoimmune hemolytic anemia 261257 Distal 17p13.3 microdeletion syndrome 96106 Distal trisomy 16q 90157 Drug-induced localized lipodystrophy 261330 Distal 22q11.2 microdeletion syndrome 3379 Distal trisomy 17q 231111 Drug-induced lupus erythematosus 261337 Distal 22q11.2 microduplication syndrome 1716 Distal trisomy 18q 99696 Dry skin - extranumerary areolae 254351 Distal 7q11.23 microdeletion syndrome 1717 Distal trisomy 19q 50817 Duane anomaly - myopathy - scoliosis 261102 Distal 7q11.23 microduplication syndrome 96069 Distal trisomy 1p36 233 Duane syndrome 251515 Distal arthrogryposis type 10 96107 Distal trisomy 20q 234 Dubin-Johnson syndrome 53739 Distal hereditary motor neuropathy 96109 Distal trisomy 22q 235 139518 Distal hereditary motor neuropathy type 1 96070 Distal trisomy 2p 262 Duchenne and Becker muscular dystrophy 139525 Distal hereditary motor neuropathy type 2 96094 Distal trisomy 2q 98896 Duchenne muscular dystrophy 139536 Distal hereditary motor neuropathy type 5 96071 Distal trisomy 3p 1203 139589 Distal hereditary motor neuropathy type 7 96072 Distal trisomy 4p 100076 Duodenal endocrine tumor 139552 Distal hereditary motor neuropathy, Jerash 96096 Distal trisomy 4q type 1739 Duplication 4q 96097 Distal trisomy 5q 1307 Distal limb deficiencies - micrognathia 91357 Duplication of the esophagus syndrome 1745 Distal trisomy 6p

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 18 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 237 Duplication of urethra 98890 Early-onset X-linked optic atrophy 230851 Ehlers-Danlos syndrome, cardiac valvular type 3306 Duplication/inversion 15q11 2554 Ear-patella-short stature syndrome 287 Ehlers-Danlos syndrome, classic type 97339 Dural sinus malformation 83594 Eastern equine encephalitis 230839 Ehlers-Danlos syndrome, classic-like type 178503 Dursun syndrome 166418 Eating seizures 1901 Ehlers-Danlos syndrome, dermatosparaxis 2650 Dwarfism - intellectual deficit - eye 1880 Ebstein malformation type abnormality 99102 Ectasia of the left appendage 75501 Ehlers-Danlos syndrome, fibronectinemic 2661 Dwarfism - tall vertebrae 99101 Ectasia of the right atrial appendage type 239 Dyggve-Melchior-Clausen disease 99698 Ectodermal defect - skeletal abnormalities 285 Ehlers-Danlos syndrome, hypermobility 1765 Dyschondrosteosis - 1881 Ectodermal dysplasia - arthrogryposis - type 241 Dyschromatosis universalis diabetes mellitus 300179 Ehlers-Danlos syndrome, kyphoscoliotic 251946 Dysembryoplastic neuroepithelial tumor 1806 Ectodermal dysplasia - blindness and deafness type 1766 Dysequilibrium syndrome 247827 Ectodermal dysplasia - cutaneous 1900 Ehlers-Danlos syndrome, kyphoscoliotic syndactyly syndrome type 67044 Dyserythropoietic anemia with thrombocytopenia 99690 Ectodermal dysplasia - digital and eye 2953 Ehlers-Danlos syndrome, anomalies musculocontractural type 1775 1812 Ectodermal dysplasia - intellectual deficit - 75392 Ehlers-Danlos syndrome, periodontitis type 1965 Dysmorphism - arthrogryposis - advanced malformation skeletal maturation 75496 Ehlers-Danlos syndrome, progeroid type 1883 Ectodermal dysplasia - sensorineural 1779 Dysmorphism - cleft palate - loose skin 157965 Ehlers-Danlos syndrome, spondylocheiro deafness dysplastic type 289553 Dysmorphism - conductive hearing loss - 69086 Ectodermal dysplasia - skin fragility heart defect 286 Ehlers-Danlos syndrome, vascular type syndrome 1780 Dysmorphism - multiple structural anomalies 230845 Ehlers-Danlos syndrome, vascular-like type 247820 Ectodermal dysplasia - syndactyly 230857 Ehlers-Danlos/osteogenesis imperfecta 2104 Dysmorphism - - joint laxity syndrome syndrome 2282 Dysmorphism - short stature - deafness - 99677 Ectodermal dysplasia syndrome with 1902 Ehrlichiosis disorder of sex development tetramelic deficiencies 79106 Eiken syndrome 1782 Dysosteosclerosis 99671 Ectodermal dysplasia with cardiac and 1798 Dysostosis, Stanescu type skeletal abnormalities 97214 Eisenmenger syndrome 99082 lusoria 69083 Ectodermal dysplasia with natal teeth, 228240 Elastoderma Turnpenny type 1822 Dysplasia epiphysealis hemimelica 228243 Elastofibroma dorsi 99675 Ectodermal dysplasia with pillous anomaly 228254 Elastoma 168621 Dysplasia of head of femur, Meyer type and syndactyly 79148 Elastosis perforans serpiginosa 2204 Dysplastic cortical hyperostosis 1816 Ectodermal dysplasia, Berlin type 289 Ellis Van Creveld syndrome 1804 Dyssegmental dysplasia - glaucoma 1818 Ectodermal dysplasia, tricho-odonto- 156731 Dyssegmental dysplasia, Rolland-Desbuquois onychial type 96170 Emanuel syndrome type 1884 Ectopia lentis - chorioretinal dystrophy - 1914 Embryofetopathy due to oral 1865 Dyssegmental dysplasia, Silverman- myopia Handmaker type 1885 Ectopia lentis syndrome 180226 Embryonal carcinoma 85198 Dysspondyloenchondromatosis 231632 Ectopic aldosterone-producing tumor 99757 Embryonal rhabdomyosarcoma 210571 Dystonia 16 99889 Ectopic Cushing syndrome 1664 Embryonary disorganization syndrome 199351 Dystonia-parkinsonism, Paisan-Ruiz type 1892 Ectrodactyly - polydactyly 261 Emery-Dreifuss muscular dystrophy 303 Dystrophic epidermolysis bullosa 1894 Ectrodactyly - spina bifida - cardiopathy 1927 Emery-Nelson syndrome 79409 Dystrophic epidermolysis bullosa inversa 1895 Edinburgh malformation syndrome 83600 Encephalitis lethargica 40923 Eales disease 1896 EEC syndrome 2396 Encephalocraniocutaneous lipomatosis 1934 Early infantile epileptic encephalopathy 1897 EEM syndrome 1035 Encephalopathy due to beta- mercaptolactate- disulfiduria 1935 Early myoclonic encephalopathy 90309 Ehlers-Danlos syndrome type 1 79155 Encephalopathy due to 256 Early onset torsion dystonia 2295 Ehlers-Danlos syndrome type 11 hydroxykynureninuria 1020 Early-onset autosomal dominant Alzheimer 90318 Ehlers-Danlos syndrome type 2 disease 139406 Encephalopathy due to prosaposin 75497 Ehlers-Danlos syndrome type 5 deficiency 289266 Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A 90353 Ehlers-Danlos syndrome type 6A 833 Encephalopathy due to sulfite oxidase deficiency mutation 99875 Ehlers-Danlos syndrome type 7A 296 289377 Early-onset myopathy with fatal 99876 Ehlers-Danlos syndrome type 7B cardiomyopathy 99075 Encircling double aortic arch 82004 Ehlers-Danlos syndrome with 2379 Early-onset parkinsonism - intellectual periventricular heterotopia 199332 Endocrine-cerebro-osteodysplasia deficit syndrome 1899 Ehlers-Danlos syndrome, arthrochalasic 90341 Early-onset sarcoidosis type 213711 Endometrial stromal sarcoma

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 19 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 2022 Endomyocardial fibroelastosis 37612 type 1 322 Exstrophy- complex 199323 Endophthalmitis 79135 Episodic ataxia type 3 3294 Extensor tendons of anomalies 85186 Endosteal sclerosis - cerebellar hypoplasia 79136 Episodic ataxia type 4 141074 External auditory canal aplasia/hypoplasia 137602 Endotheliitis 211067 Episodic ataxia type 5 289362 Extracranial embryonal carcinoma 1937 Eng-Strom syndrome 209967 Episodic ataxia type 6 66662 Extracutaneous mastocytoma 299 Enolase deficiency 209970 Episodic ataxia type 7 280811 Extralobar congenital pulmonary sequestration 86880 Enteropathy-type T-cell lymphoma 53583 Episodic choreoathetosis/spasticity 2800 Extramammary Paget disease 85438 Enthesitis-related arthritis 93928 Epispadias 100022 Extramedullary plasmacytoma 1939 Envenomization by bothrops lanceolatus 293381 Epithelial recurrent erosion dystrophy 100002 Extraneural perineurioma 73247 Eosinophilic esophagitis 103912 Epithelio-exfoliative colitis - deafness 86879 Extranodal nasal NK/T cell lymphoma 3165 157791 Epithelioid 209916 Extraskeletal myxoid chondrosarcoma 2070 Eosinophilic gastroenteritis 293202 Epithelioid sarcoma 1964 Extrasystoles - short stature - 99871 Eosinophilic granuloma 254698 Epithelioid trophoblastic tumor - microcephaly 251880 Ependymoblastoma 1019 Epstein syndrome 251927 Extraventricular neurocytoma 251636 Ependymoma 289661 Epstein-Barr Virus-positive diffuse large B 2725 Eye defects - arachnodactyly - cardiopathy cell lymphoma of the elderly 99169 Epiblepharon 3172 Eyebrow duplication - syndactyly 35687 Erdheim-Chester disease 231742 Epibulbar lipodermoid - preauricular 324 appendage - polythelia 999 Ermine phenotype 1969 syndrome 83314 Epidemic typhus 222 Erosive pustular dermatosis of the scalp 1167 Facial asymmetry - temporal seizures 2694 Epidermal nevus - vitamin D resistant 90000 Erythema elevatum diutinum rickets 141051 Facial dermoid cyst 231031 Erythema palmaris hereditarium 35125 Epidermal nevus syndrome 1970 Facial dysmorphism - - 314 Erythroderma desquamativa myopia - Dandy-Walker malformation 302 Epidermodysplasia verruciformis 315 Erythrokeratoderma "en cocardes" 1778 Facial dysmorphism - shawl - joint 257 Epidermolysis bullosa simplex - limb girdle 1955 - ataxia laxity muscular dystrophy 317 Erythrokeratodermia variabilis 1807 Facial ectodermal dysplasia 158684 Epidermolysis bullosa simplex - pyloric atresia 281183 Erythrokeratodermia variabilis, Kamouraska 85162 Facial onset sensory and motor type neuronopathy 158668 Epidermolysis bullosa simplex due to deficiency 1956 1973 Faciocardiorenal syndrome 89839 Epidermolysis bullosa simplex superficialis 79278 Erythropoietic protoporphyria 269 Facioscapulohumeral dystrophy 2325 Epidermolysis bullosa simplex with 280379 Erythropoietic uroporphyria associated 1976 Facio-skeletal-genital syndrome, anodontia/hypodontia with myeloid malignancy Rippberger type 158681 Epidermolysis bullosa simplex with 79449 Escobar syndrome 1977 Facio-thoraco-genital syndrome migratory circinate erythema 99976 Esophageal adenocarcinoma 254707 Faisalabad histiocytosis 79397 Epidermolysis bullosa simplex with mottled 1199 Esophageal atresia 3304 Fallot complex - intellectual deficit - pigmentation 70482 Esophageal carcinoma growth delay 79396 Epidermolysis bullosa simplex, Dowling- 86 Familial abdominal Meara type 100047 Esophageal duplication cyst 88619 Familial acute necrotizing encephalopathy 79399 Epidermolysis bullosa simplex, Köbner type 99977 Esophageal squamous cell carcinoma 733 Familial adenomatous polyposis 79401 Epidermolysis bullosa simplex, Ogna type 98981 Essential iris atrophy 261584 Familial adenomatous polyposis due to 79400 Epidermolysis bullosa simplex, Weber- 3318 Essential thrombocythemia 5q22.2 microdeletion Cockayne type 1957 Esthesioneuroblastoma 95700 Familial adrenal hypoplasia 158676 Epidermolysis bullosa, dystrophic, nails 785 resistance syndrome only 164736 Familial advanced sleep-phase syndrome 31826 Ethylene glycol poisoning 304 Epidermolytic epidermolysis bullosa 98880 Familial afibrinogenemia 942 Ethylmalonic aciduria 312 Epidermolytic ichthyosis 280397 Familial Alzheimer-like prion disease 51188 Ethylmalonic encephalopathy 141077 Epignathus 85447 Familial amyloid polyneuropathy 99172 Euryblepharon 1948 Epilepsy - microcephaly - skeletal dysplasia 85448 Familial amyloidosis, Finnish type 1959 Evans syndrome 1951 Epilepsy telangiectasia 228277 Familial anetoderma 319 Ewing sarcoma 86911 Epilepsy with myoclonic absences 199279 Familial angiolipomatosis 165991 Exercise-induced hyperinsulinism 1942 Epilepsy with myoclonic-astatic seizures 95429 Familial serpiginosum 289586 Exfoliative ichthyosis 1819 Epimetaphyseal skeletal dysplasia 229 Familial 1962 Exostoses - anetodermia - brachydactyly 1825 Epiphyseal dysplasia - hearing loss - type E 1416 Familial articular chondrocalcinosis dysmorphism

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 20 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 99781 Familial articular chondrocalcinosis type 1 99763 Familial hyperreninemic hypoaldosteronism 75249 Familial isolated restrictive cardiomyopathy type 1 99782 Familial articular chondrocalcinosis type 2 180176 Familial juvenile hypertrophy of the 99764 Familial hyperreninemic hypoaldosteronism 334 Familial atrial fibrillation 209886 Familial juvenile hyperuricemic type 2 nephropathy type 1 615 Familial atrial 424 Familial hyperthyroidism due to mutations 493 Familial 300359 Familial atypical cold urticaria in TSH receptor 293936 Familial keratoconus with cataract 86820 Familial avascular necrosis of femoral head 427 Familial hypoaldosteronism 3267 Familial lambdoid synostosis 2841 Familial benign chronic 405 Familial hypocalciuric hypercalcemia 79293 Familial LCAT deficiency 1551 Familial benign deficiency 93372 Familial hypocalciuric hypercalcemia type 523 Familial leiomyomatosis 91415 Familial 1 768 Familial long QT syndrome 1768 Familial caudal dysgenesis 101049 Familial hypocalciuric hypercalcemia type 2 342 Familial mediterranean fever 231160 Familial cerebral saccular aneurysm 101050 Familial hypocalciuric hypercalcemia type 99361 Familial medullary thyroid carcinoma 36382 Familial cerebral vascular accident 3 618 Familial melanoma 1428 Familial chondromalacia patellae 248408 Familial hypodysfibrinogenemia 165805 Familial mesial temporal lobe epilepsy 238578 Familial due to 17q23.1q23.2 101041 Familial hypofibrinogenemia with febrile seizures microduplication 2196 Familial hypomagnesemia - hypercalciuria 741 Familial 293144 Familial clubfoot due to 5q31 microdeletion - nephrocalcinosis - severe ocular 276399 Familial multinodular goiter 293150 Familial clubfoot due to PITX1 point involvement mutation 31043 Familial hypomagnesemia with 338 Familial multiple fibrofolliculoma 199315 Familial clubfoot with or without hypercalciuria and nephrocalcinosis 199276 Familial multiple lipomatosis associated lower limb anomalies 440 Familial 263662 Familial multiple meningioma 47045 Familial cold urticaria 1677 Familial idiopathic dilatation of the right 867 Familial multiple trichoepithelioma 99166 Familial combined hyperlipoproteinemia atrium 922 Familial nasal acilia 238722 Familial congenital mirror movements 656 Familial idiopathic -resistant nephrotic syndrome 88632 Familial ocular anterior segment 91498 Familial congenital palsy of trochlear mesenchymal dysgenesis nerve 93214 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial 280403 Familial omphalocele syndrome with facial 53296 Familial cutaneous collagenoma proliferation dysmorphism 211 Familial cylindromatosis 93217 Familial idiopathic steroid-resistant 569 Familial or sporadic hemiplegic migraine 97345 Familial dementia, British type nephrotic syndrome with diffuse mesangial 251262 Familial osteochondritis dissecans sclerosis 97346 Familial dementia, Danish type 2769 Familial osteodysplasia, Anderson type 93213 Familial idiopathic steroid-resistant 1799 Familial developmental dysphasia nephrotic syndrome with focal segmental 99805 Familial otodentodysplasia 85169 Familial digital arthropathy-brachydactyly hyalinosis 1333 Familial pancreatic carcinoma 300751 Familial dilated cardiomyopathy with 93216 Familial idiopathic steroid-resistant 47044 Familial papillary renal cell carcinoma conduction defect due to LMNA mutation nephrotic syndrome with minimal changes 99877 Familial parathyroid adenoma 75376 Familial drusen 225154 Familial infantile bilateral striatal necrosis 33540 Familial Parkinson's disease dementia 79142 Familial Dupuytren contracture 300373 Familial infantile gigantism 97 Familial paroxysmal ataxia 1764 Familial 2454 Familial intestinal malrotation - facial 309 Familial partial epilepsy anomalies 98881 Familial dysfibrinogenemia 98820 Familial partial epilepsy with variable 217656 Familial isolated arrhythmogenic right 85110 Familial encephalopathy with neuroserpin focus ventricular dysplasia 280356 Familial partial lipodystrophy associated 293899 Familial isolated arrhythmogenic 99723 Familial with PLIN1 mutations ventricular dysplasia, biventricular form 85195 Familial expansile osteolysis 79083 Familial partial lipodystrophy associated 293888 Familial isolated arrhythmogenic with PPARG mutations 891 Familial exudative vitreoretinopathy ventricular dysplasia, left dominant form 79085 Familial partial lipodystrophy due to AKT2 26106 Familial gastric cancer 293910 Familial isolated arrhythmogenic mutations ventricular dysplasia, right dominant form 231040 Familial generalized lentiginosis 2348 Familial partial lipodystrophy, Dunnigan 295014 Familial isolated of fingers 99819 Familial gestational hyperthyroidism type 101351 Familial isolated congenital asplenia 361 Familial deficiency 79084 Familial partial lipodystrophy, Köbberling 154 Familial isolated dilated cardiomyopathy 540 Familial hemophagocytic type lymphohistiocytosis 99879 Familial isolated hyperparathyroidism 71290 Familial platelet syndrome with 403 Familial hyperaldosteronism type 1 2238 Familial isolated hypoparathyroidism predisposition to acute myelogenous leukemia 404 Familial hyperaldosteronism type 2 2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland 99810 Familial 251274 Familial hyperaldosteronism type 3 189466 Familial isolated hypoparathyroidism due 2207 Familial primary hyperparathyroidism 238475 Familial hypercholanemia to impaired PTH secretion 34526 Familial primary hypomagnesemia

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 21 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 2257 Familial primary pulmonary hypoplasia 2948 Familial triphalangeal thumbs - big toes 1906 Fetal syndrome duplication 1767 Familial progressive vestibulocochlear 291 Fetal varicella syndrome dysfunction 36383 Familial vascular leukoencephalopathy 163703 Fever-induced resistant epilepsy in school- 871 Familial progressive cardiac conduction 289365 Familial age children defect 2604 Familial visceral myopathy 93932 FG syndrome type 1 280628 Familial progressive hyper- and 84 251601 Fibrillary astrocytoma hypopigmentation 1981 - ichthyosis - 99654 Fibrocalculous pancreatopathy 79146 Familial progressive hyperpigmentation dysmorphism 2021 96254 Familial prolactinoma 333 Farber lipogranulomatosis 337 Fibrodysplasia ossificans progressiva 1331 Familial prostate cancer 99906 Farmer's lung disease 336 of arteries 90044 Familial pseudohyperkalemia 166105 FASTKD2-related infantile mitochondrial 84090 Fibronectin glomerulopathy 100039 Familial pseudohyperkalemia type 1 encephalomyopathy 2030 100040 Familial pseudohyperkalemia type 2 466 Fatal familial insomnia 249 Fibrous dysplasia of bone 100041 Familial pseudohyperkalemia, Cardiff type 1561 Fatal infantile cytochrome C oxidase deficiency 2639 Fibular aplasia - complex brachydactyly 47159 Familial pure proximal renal tubular acidosis 293838 Fatal infantile encephalopathy-pulmonary 1118 Fibular aplasia - ectrodactyly hypertension syndrome 79147 Familial reactive perforating collagenosis 1757 Fibular dimelia - 280553 Fatal infantile hypertonic myofibrillar 2809 Familial recurrent peripheral facial palsy 93323 Fibular myopathy 85450 Familial renal amyloidosis 295083 , bilateral 289527 Fatal infantile hypertrophic 93560 Familial renal amyloidosis due to cardiomyopathy due to mitochondrial 295081 Fibular hemimelia, unilateral Apolipoprotein AI variant complex I deficiency 2256 Fibulo-ulnar hypoplasia - renal anomalies 238269 Familial renal amyloidosis due to 17 Fatal infantile lactic acidosis with 2034 Filariasis Apolipoprotein AII variant methylmalonic aciduria 3255 Filippi syndrome 93562 Familial renal amyloidosis due to 168566 Fatal due to fibrinogen A alpha-chain variant combined oxidative phosphorylation 1272 Fine-Lubinsky syndrome 93561 Familial renal amyloidosis due to lysozyme deficiency 3 97232 Fingerprint body myopathy variant 289573 Fatal multiple mitochondrial dysfunction 141013 First branchial cleft anomaly syndrome 151 Familial renal cell carcinoma 79292 Fish-eye disease 1984 Fechtner syndrome 99985 Familial restrictive cardiomyopathy type 1 293812 Fixed pigmented erythema 1305 99986 Familial restrictive cardiomyopathy type 2 3092 Fixed subaortic stenosis 47612 Felty syndrome 218432 Familial restrictive cardiomyopathy type 3 1968 Flat face - microstomia - ear anomaly 284247 Familial retinal arterial macroaneurysm 101039 Female restricted epilepsy with intellectual deficit 98970 Fleck corneal dystrophy 231108 Familial rhabdoid tumor 1987 Femoral agenesis/hypoplasia 2044 Floating-Harbor syndrome 168624 Familial syndrome, 83451 Florid cemento-osseous dysplasia McGillivray type 295067 Femoral agenesis/hypoplasia, bilateral 2045 FLOTCH syndrome 3135 Familial Scheuermann disease 295065 Femoral agenesis/hypoplasia, unilateral 2047 Flynn-Aird syndrome 79428 Familial segmental 1988 Femoral-facial syndrome 1009 Focal alopecia congenital megalencephaly 51083 Familial short QT syndrome 2019 Femur-fibula-ulna complex 2092 254712 Familial sinus histiocytosis with massive 994 Fetal akinesia deformation sequence lymphadenopathy 1915 Fetal alcohol syndrome 1866 Focal dystonia 685 Familial spastic paraplegia 853 Fetal and neonatal alloimmune 79133 Focal facial dermal dysplasia 79429 Familial spinal neurofibromatosis thrombocytopenia 48918 Focal 2903 Familial spontaneous pneumothorax 1665 Fetal brain disruption sequence 79093 Foix-Alajouanine syndrome 280406 Familial steroid-resistant nephrotic 294 Fetal cytomegalovirus syndrome 2048 Foix-Chavany-Marie syndrome syndrome with sensorineural deafness 85212 Fetal Gaucher disease 79097 Folinic acid-responsive seizures 2456 Familial supernumerary nipples 1912 Fetal hydantoin syndrome 79459 Follicular atrophoderma-basal cell 2398 Familial symmetric lipomatosis 1910 Fetal iodine syndrome carcinoma 98819 Familial temporal epilepsy 1055 Fetal left ventricular aneurysm 300552 Follicular cholangitis and pancreatitis 91387 Familial 284362 Fetal lung interstitial tumor 86902 Follicular dendritic cell sarcoma 71493 Familial thrombocytosis 1917 Fetal methylmercury syndrome 2112 Follicular hamartoma - alopecia - cystic fibrosis 3324 Familial thrombomodulin anomalies 1918 Fetal minoxidil syndrome 459 Follicular ichthyosis 93953 Familial thyroglossal duct cyst 295 Fetal parvovirus syndrome 545 95716 Familial thyroid dyshormonogenesis 1913 Fetal trimethadione syndrome 178512 Folliculotropic mycosis fungoides

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 22 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 228371 Foodborne botulism 228119 Fusariosis 263548 Generalized peeling skin syndrome type A 51208 Formiminoglutamic aciduria 2287 Fused mandibular incisors 263553 Generalized peeling skin syndrome type B 3219 90041 Gaisbock syndrome 263558 Generalized peeling skin syndrome type C 141037 Fourth branchial cleft anomaly 79237 Galactokinase deficiency 171876 Generalized type 1 2253 Foveal hypoplasia - presenile cataract 79238 Galactose epimerase deficiency 247353 Generalized pustular 221126 Fowler syndrome 352 Galactosemia 3221 Generalized resistance to thyroid hormone 908 351 Galactosialidosis 183450 Genetic hair anomaly 93256 Fragile X-associated /ataxia 100086 Gall-bladder endocrine tumor syndrome 254704 Genetic hyperferritinemia without iron 2065 Galloway-Mowat syndrome overload 137834 Frank-Ter Haar syndrome 2066 Gamma aminobutyric acid transaminase 99845 Genetic recurrent myoglobinuria 2052 deficiency 99899 Genetic susceptibility to infections caused 2051 Fraser-like syndrome 100026 Gamma heavy-chain disease by BCG and atypical mycobacteria 347 Frasier syndrome 33573 Gamma-glutamyl transpeptidase deficiency 226316 Genetic transient congenital 100973 FRAXE intellectual deficiency 33574 Gamma-glutamylcysteine synthetase hypothyroidism deficiency 100974 FRAXF syndrome 182734 Genetic urticaria 251937 Gangliocytoma 834 Free sialic acid storage disease 2075 Genito-palato-cardiac syndrome 251949 Ganglioglioma 2053 Freeman-Sheldon syndrome 85201 Genitopatellar syndrome 251877 Ganglioneuroblastoma 85335 Fried syndrome 85197 Genochondromatosis 251992 Ganglioneuroma 95 Friedreich ataxia 93398 Genochondromatosis type 2 2067 GAPO syndrome 96 Friedreich-like ataxia with selective 99095 Gerbode defect 79665 Gardner syndrome 2077 German syndrome 99672 Fried's tooth and nails syndrome 63443 Gastric cancer 91352 Germinoma of the central nervous system 1931 Frontal encephalocele 100075 Gastric endocrine tumor 2078 Geroderma osteodysplastica 254492 Frontal fibrosing alopecia 36273 Gastric linitis plastica 221117 Gerstmann syndrome 1791 Fronto-facio-nasal dysostosis 2069 Gastrocutaneous syndrome 356 Gerstmann-Straussler-Scheinker syndrome 1826 Frontometaphyseal dysplasia 44890 Gastrointestinal stromal tumor 99926 Gestational choriocarcinoma 141168 Frontonasal arteriovenous malformation 2368 59305 Gestational trophoblastic 250 Frontonasal dysplasia 355 Gaucher disease 1802 Ghosal hematodiaphyseal dysplasia 1828 Frontonasal dysplasia - Klippel-Feil 2072 Gaucher disease - ophthalmoplegia - 180267 Giant adenofibroma of the breast syndrome cardiovascular calcification 643 228390 Frontonasal dysplasia with alopecia and 77259 Gaucher disease type 1 genital anomaly 397 Giant cell 77260 Gaucher disease type 2 282 Frontotemporal dementia 251579 Giant cell glioblastoma 77261 Gaucher disease type 3 275872 Frontotemporal dementia with motor 210592 Giant 98957 Gelatinous drop-like corneal dystrophy neuron disease 99725 Gigantism 2623 Geleophysic dysplasia 469 Fructose intolerance 2027 Gingival fibromatosis - progressive 2074 Gemignani syndrome 348 Fructose-1,6-bisphosphatase deficiency deafness 251604 Gemistocytic astrocytoma 2056 Fructosuria 2025 Gingival fibromatosis - facial dysmorphism 51608 Generalized arterial calcification of infancy 2059 2026 Gingival fibromatosis - hypertrichosis 168632 Generalized basaloid follicular hamartoma 2058 Fryns-Smeets-Thiry syndrome 99691 Gingival fibromatosis - sparse hair - syndrome malposistion of teeth 247790 FTH1-related 228429 Generalized congenital lipodystrophy with 358 98974 Fuchs endothelial corneal dystrophy myopathy 849 Glanzmann thrombasthenia 263479 Fuchs heterochromic iridocyclitis 79137 Generalized epilepsy - paroxysmal dyskinesia 213833 Glassy cell carcinoma of the cervix uteri 349 Fucosidosis 99649 Generalized epilepsy and praxis-induced 2084 Glaucoma - ectopia - microspherophakia - 2854 Fuhrmann syndrome seizures stiff - short stature 2060 Fukuda-Miyanomae-Nakata syndrome 36387 Generalized epilepsy with febrile seizures- 2085 Glaucoma - sleep apnea 35063 Fulminant viral hepatitis plus context 360 Glioblastoma 24 Fumaric aciduria 157991 Generalized eruptive histiocytosis 269197 Glioependymal/ependymal cyst 227796 Fundus albipunctatus 280774 Generalized essential telangiectasia 251582 Gliomatosis cerebri 99004 Fundus pulverulentus 79402 Generalized junctional epidermolysis 251576 Gliosarcoma 2061 Fuqua-Berkovitz syndrome bullosa, non-Herlitz type 591 Furuncular myiasis 263543 Generalized peeling skin syndrome

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 23 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 73223 Global developmental delay - osteopenia - 1770 Gonadal dysgenesis, XY type - associated 414 Gyrate atrophy of choroid and retina ectodermal defect anomalies 168569 H syndrome 171709 Globozoospermia 91348 Gonadotroph adenoma 99803 Haddad syndrome 2087 Glomerulonephritis - sparse hair - 1482 Gonococcal conjunctivitis 2342 Haim-Munk syndrome telangiectasis 169105 Good syndrome 1408 Hair defect - photosensitivity - intellectual 83454 Glomuvenous malformation 65798 Goodman syndrome deficit 141163 Glossopalatine ankylosis 375 58017 Hairy cell leukemia 221098 Glossopharyngeal neuralgia 376 Gordon syndrome 300878 Hairy cell leukemia variant 97280 Glucagonoma 73 Gorham-Stout disease 2109 Hallermam-Streiff like syndrome 786 Glucocorticoid resistance 377 Gorlin syndrome 2108 Hallermann-Streiff-François syndrome 71277 Glucose transporter type 1 deficiency 2095 Gorlin-Chaudhry-Moss syndrome 2107 Hall-Riggs syndrome syndrome 53693 GRACILE syndrome 2110 Hallux varus - preaxial polysyndactyly 35710 Glucose-galactose malabsorption 91128 Graft rejection after 93946 Hamel cerebro-palato-cardiac syndrome 25 Glutaric acidemia type 1 228110 Graft rejection during pancreatic islet 2438 Hand-foot-genital syndrome 26791 transplantation 99873 Hand-Schüller-Christian disease 35706 Glutaric acidemia type 3 39812 Graft versus host disease 1177 Harding ataxia 32 Glutathione synthetase deficiency 505 Graham Little-Piccardi-Lassueur syndrome 457 Harlequin ichthyosis 289846 Glutathione synthetase deficiency with 79094 Grange syndrome 5-oxoprolinuria 199282 Harlequin syndrome 2097 Grant syndrome 289849 Glutathione synthetase deficiency without 2115 Harrod syndrome 98962 Granular corneal dystrophy type I 5-oxoprolinuria 2116 Hartnup syndrome 98963 Granular corneal dystrophy type II 408 Glycerol kinase deficiency 2117 Hartsfield-Bixler-Demyer syndrome 64722 Granulomatous mastitis 367 Glycogen branching enzyme deficiency 99872 Hashimoto-Pritzker syndrome 33111 Granulomatous slack skin 366 Glycogen debranching enzyme deficiency 2118 99915 Granulosa cell malignant tumor 34587 Glycogen storage disease due to LAMP-2 3225 Hearing loss - familial salivary gland deficiency 35858 Gräsbeck-Imerslund disease insensitivity to aldosterone 79240 Glycogen storage disease due to liver and 721 Gray platelet syndrome 1355 Heart defect - round face - congenital muscle phosphorylase kinase deficiency developmental delay 293375 Grayson-Wilbrandt corneal dystrophy 264580 Glycogen storage disease due to liver 1338 Heart defect - tongue hamartoma - 1426 Greenberg dysplasia phosphorylase kinase deficiency polysyndactyly 380 Greig cephalopolysyndactyly syndrome 715 Glycogen storage disease due to muscle 1354 Heart defects - limb shortening phosphorylase kinase deficiency 495 Greither's disease 875 Heart tumor of the child 370 Glycogen storage disease due to 97261 GRFoma phosphorylase kinase deficiency 1350 Heart-hand syndrome type 2 381 Griscelli disease 711 Glycogen storage disease type 14 1342 Heart-hand syndrome type 3 79476 Griscelli disease type 1 263297 Glycogen storage disease type 15 168796 Heart-hand syndrome, Slovenian type 79477 Griscelli disease type 2 365 Glycogen storage disease type 2 93556 Heavy chain deposition disease 79478 Griscelli disease type 3 364 Glycogenosis due to glucose-6- 86864 Heavy-chain disease 2099 Grix-Blankenship-Peterson syndrome phosphatase deficiency 2119 HEC syndrome 2055 Growth deficiency - brachydactyly - 79258 Glycogenosis due to glucose-6- 2120 Heckenlively syndrome phosphatase deficiency type a dysmorphism 99932 Heiner syndrome 79259 Glycogenosis due to glucose-6- 3035 Growth delay - hydrocephaly - lung phosphatase deficiency type b hypoplasia 178330 anemia 354 GM1 gangliosidosis 73272 Growth delay due to insulin-like growth 86813 Helicoid peripapillary chorioretinal factor I deficiency degeneration 79255 GM1 gangliosidosis type 1 73273 Growth delay due to insulin-like growth 252054 79256 GM1 gangliosidosis type 2 factor I resistance 2126 79257 GM1 gangliosidosis type 3 2101 Grubben-de Cock-Borghgraef syndrome 90053 Hematopoietic cell transplantation 2090 GMS syndrome 2102 GTP cyclohydrolase I deficiency 86908 Hemiconvulsion-Hemiplegia-Epilepsy 53697 Gnathodiaphyseal dysplasia 382 Guanidinoacetate methyltransferase syndrome deficiency 66629 Goldberg-Shprintzen megacolon syndrome 141145 Hemifacial hypertrophy 2103 Guillain-Barré syndrome 166272 Goldblatt syndrome 141136 Hemifacial microsomia 383 Gusher syndrome 374 141148 Hemifacial myohyperplasia 2957 Guttmacher syndrome 53540 Goldmann-Favre syndrome 276280 Hemihyperplasia-multiple lipomatosis 1986 Gollop-Wolfgang complex 99914 Gynandroblastoma syndrome

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 24 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 2128 Hemihypertrophy 90073 Hepatitis B re-infection following liver 79091 Hereditary inclusion body myopathy - joint transplantation contractures - ophthalmoplegia 2129 Hemihypertrophy intestinal web corneal opacity 449 199237 Hereditary 99802 54272 Hepatocellular adenoma 621 Hereditary 79230 Hemochromatosis type 2 88673 Hepatocellular carcinoma 157794 Hereditary mixed polyposis syndrome 225123 Hemochromatosis type 3 33402 Hepatocellular carcinoma, childhood- 64751 Hereditary motor and sensory neuropathy onset type 5 139491 Hemochromatosis type 4 137681 Hepatoencephalopathy due to combined 90120 Hereditary motor and sensory neuropathy 231242 Hemoglobin C - beta-thalassemia oxidative phosphorylation deficiency type type 6 2132 Hemoglobin C disease 1 90117 Hereditary motor and sensory neuropathy, 90039 Hemoglobin D disease 95159 Hepatoerythropoietic porphyria Okinawa type 231249 Hemoglobin E - beta-thalassemia 64743 Hepatoportal sclerosis 1839 Hereditary mucoepithelial dysplasia 2133 Hemoglobin E disease 86882 Hepatosplenic T-cell lymphoma 2590 Hereditary myoclonus - progressive distal muscular atrophy 93616 Hemoglobin H disease 2907 Hereditary acrokeratotic , 280615 Toms River Weary type 178464 Hereditary myopathy with early respiratory failure 86817 Hemolytic anemia due to adenylate kinase 100007 Hereditary amyloid precursor protein deficiency 178498 Hereditary neuralgic amyotrophy 714 Hemolytic anemia due to 91378 Hereditary angioedema 1062 Hereditary neurocutaneous angioma diphosphoglycerate mutase deficiency 100050 Hereditary angioedema type 1 640 Hereditary neuropathy with liability to pressure palsies 99138 Hemolytic anemia due to erythrocyte 100051 Hereditary angioedema type 2 adenosine deaminase overproduction 279943 Hereditary neutrophilia 100054 Hereditary angioedema type 3 99847 Hemolytic anemia due to erythrocyte 144 Hereditary nonpolyposis colon cancer 289601 Hereditary arterial and articular multiple enolase deficiency calcification syndrome 168583 Hereditary North American Indian 712 Hemolytic anemia due to glucophosphate childhood 145 Hereditary breast and ovarian cancer isomerase deficiency syndrome 30 Hereditary 90030 Hemolytic anemia due to glutathione 227535 Hereditary breast cancer 79141 Hereditary painful callosities reductase deficiency 221061 Hereditary cerebral cavernous 86923 Hereditary palmoplantar keratoderma, 248305 Hemolytic anemia due to glyceraldehyde- malformation Gamborg-Nielsen type 3-phosphate dehydrogenase deficiency 85458 Hereditary cerebral hemorrhage with 168615 Hereditary persistence of alpha- 35120 Hemolytic anemia due to 5' amyloidosis fetoprotein nucleotidase deficiency 100006 Hereditary cerebral hemorrhage with 46532 Hereditary persistence of fetal hemoglobin 766 Hemolytic anemia due to red cell pyruvate amyloidosis, Dutch type - beta-thalassemia kinase deficiency 100008 Hereditary cerebral hemorrhage with 251380 Hereditary persistence of fetal hemoglobin 275944 Hemolytic disease of the newborn with amyloidosis, Icelandic type - Kell allo-immunization 676 Hereditary chronic pancreatitis 29072 Hereditary pheochromocytoma- 448 Hemophilia paraganglioma 98434 Hereditary combined deficiency of vitamin 98878 Hemophilia A K-dependent clotting factors 158025 Hereditary progressive mucinous 98879 Hemophilia B histiocytosis 972 Hereditary continuous muscle fiber activity 178396 Hemorrhagic disease due to alpha-1 2338 Hereditary punctate palmoplantar 79273 Hereditary coproporphyria antitrypsin Pittsburgh mutation keratoderma 168577 Hereditary cryohydrocytosis with reduced 340 Hemorrhagic fever - renal syndrome 98867 Hereditary pyropoikilocytosis stomatin 2136 Hennekam syndrome 94088 Hereditary renal 100005 Hereditary cystatin C amyloid angiopathy 2135 Hennekam-Beemer syndrome 788 Hereditary resistance to anti- 288 Hereditary elliptocytosis 761 Henoch-Schönlein purpura 221039 Hereditary sclerosing poikiloderma Weary 90045 Hereditary folate malabsorption 3325 Heparin-induced thrombocytopenia type 53372 Hereditary geniospasm 102069 Hepatic amyloidosis with intrahepatic 221043 Hereditary sclerosing poikiloderma with 359 Hereditary glaucoma cholestasis tendon and pulmonary involvement 199285 Hereditary hypercarotenemia and vitamin 386 Hepatic cystic hamartoma 280598 Hereditary sensorimotor neuropathy with A deficiency hyperelastic skin 100085 Hepatic endocrine tumor 3197 Hereditary hyperekplexia 36386 Hereditary sensory and autonomic 2031 Hepatic fibrosis - renal cysts - intellectual 163 Hereditary hyperferritinemia with neuropathy type 1 deficit congenital cataracts 139564 Hereditary sensory and autonomic 2089 Hepatic glycogen synthase deficiency 157215 Hereditary hypophosphatemic rickets with neuropathy type 1B 890 Hepatic veno-occlusive disease hypercalciuria 970 Hereditary sensory and autonomic 79124 Hepatic veno-occlusive disease - 217407 Hereditary hypotrichosis with recurrent neuropathy type 2 immunodeficiency skin vesicles

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 25 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 642 Hereditary sensory and autonomic 2153 Hirschsprung disease - nail hypoplasia - 3383 Humerus trochlea aplasia neuropathy type 4 dysmorphism 97340 Hunter-McAlpine craniosynostosis 64752 Hereditary sensory and autonomic 2150 Hirschsprung disease - type D 399 Huntington disease neuropathy type 5 brachydactyly 157941 Huntington disease-like 1 139573 Hereditary sensory and autonomic 79438 Hirschsprung disease with pigmentary neuropathy with deafness and global delay anomaly 98934 Huntington disease-like 2 139578 Hereditary sensory and autonomic 2156 - skeletal dysplasia - intellectual 157946 Huntington disease-like 3 neuropathy with spastic paraplegia deficit 93473 213524 Hereditary site-specific ovarian cancer 3283 His bundle tachycardia 93476 Hurler- syndrome 2157 740 Hutchinson-Gilford syndrome 822 Hereditary 2158 Histidinuria - renal tubular defect 53698 Hyaline body myopathy 84093 Hereditary thermosensitive neuropathy 86896 67041 Hyaluronidase deficiency 268322 Hereditary thrombocytopenia with normal 137675 Histiocytoid cardiomyopathy platelets 254688 Hydatidiform complete mole 390 Histoplasmosis 82 Hereditary thrombophilia due to congenital 99927 Hydatidiform mole antithrombin deficiency 391 Hodgkin lymphoma, classical 254693 Hydatidiform partial mole 217467 Hereditary thrombophilia due to congenital 93970 Holmes-Gang syndrome 400 Hydatidosis -rich (poly-L) glycoprotein 2161 Holoacardius amorphus deficiency 2177 79242 Holocarboxylase synthetase deficiency 745 Hereditary thrombophilia due to congenital 2186 Hydrocephalus - blue sclerae - nephropathy protein C deficiency 2162 Holoprosencephaly 2180 Hydrocephalus - costovertebral dysplasia - 743 Hereditary thrombophilia due to congenital 2165 Holoprosencephaly - caudal dysgenesis Sprengel anomaly protein S deficiency 2163 Holoprosencephaly - craniosynostosis 2183 Hydrocephalus - obesity - hypogonadism 71291 Hereditary vascular retinopathy 2166 Holoprosencephaly - postaxial polydactyly 2182 Hydrocephalus with stenosis of aqueduct of Sylvius 3467 Hereditary 3186 Holoprosencephaly - radial heart renal 275777 Heritable pulmonary arterial hypertension anomalies 2184 Hydrocephaly - low insertion umbilicus 79430 Hermansky-Pudlak syndrome 392 Holt-Oram syndrome 2181 Hydrocephaly - tall stature - joint laxity 231531 Hermansky-Pudlak syndrome type 7 2167 Holzgreve-Wagner-Rehder syndrome 2189 Hydrolethalus 231537 Hermansky-Pudlak syndrome type 8 2168 Homocarnosinosis 1041 280663 Hermansky-Pudlak syndrome type 9 395 Homocystinuria due to 163596 Hydrops fetalis of Bart methylenetetrahydrofolate reductase 401 Hymenolepiasis 183678 Hermansky-Pudlak syndrome with deficiency neutropenia 927 due to N-acetylglutamate 622 Homocystinuria without methylmalonic synthetase deficiency 231500 Hermansky-Pudlak syndrome with acidemia pulmonary fibrosis 168588 Hyperandrogenism due to 98865 Homozygous hereditary elliptocytosis 231512 Hermansky-Pudlak syndrome without reductase deficiency pulmonary fibrosis 98958 Honey-droplet corneal dystrophy 276405 Hyperbiliverdinemia 2139 Hernandez-Aguirre Negrete syndrome 2171 Hoon-Hall syndrome 209902 Hypercholesterolemia due to cholesterol 63261 HERNS syndrome 2744 Horizontal gaze palsy with progressive 7alpha-hydroxylase deficiency scoliosis 137586 virus keratitis 83639 Hypercoagulability syndrome due to 166412 Hot water reflex epilepsy glycosylphosphatidylinositol deficiency 1930 Herpetic encephalitis 99907 House allergic alveolitis 1032 Hyperdibasic type 1 208524 Herpetiform pemphigus 3322 Hoyeraal-Hreidarsson syndrome 163985 Hyperekplexia - epilepsy 450 Heterotaxia 228116 Hughes-Stovin syndrome 168956 Hypereosinophilic syndromes 1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type 294973 Humeral agenesis/hypoplasia 2410 Hypergonadotropic hypogonadism - cataract syndrome 1809 Hidrotic ectodermal dysplasia, Halal type 295063 Humeral agenesis/hypoplasia, bilateral 101089 Hyper-IgM syndrome type 2 231080 High-grade dysplasia in patients with 295061 Humeral agenesis/hypoplasia, unilateral 101090 Hyper-IgM syndrome type 3 Barrett esophagus 3265 Humeroradial synostosis 101091 Hyper-IgM syndrome type 4 84085 Hinman's syndrome 295211 Humero-radial synostosis, bilateral 101092 Hyper-IgM syndrome type 5 2114 , Beukes type 295209 Humero-radial synostosis, unilateral 343 Hyperimmunoglobulinemia D with periodic 99151 Hippocampal in cerebral aging 3266 Humeroradioulnar synostosis fever 388 Hirschsprung disease 295207 Humero-radio-ulnar synostosis, bilateral 71212 Hyperinsulinism due to 3-hydroxylacyl-CoA 2155 Hirschsprung disease - deafness - 295205 Humero-radio-ulnar synostosis, unilateral dehydrogenase deficiency polydactyly 94056 Humeroulnar synostosis 79299 Hyperinsulinism due to glucokinase 2151 Hirschsprung disease - deficiency ganglioneuroblastoma 295215 Humero-ulnar synostosis, bilateral 263455 Hyperinsulinism due to HNF4A deficiency 295213 Humero-ulnar synostosis, unilateral

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 26 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 263458 Hyperinsulinism due to INSR deficiency 289157 Hypocalcemic vitamin D dependent rickets 722 Hypoplasminogenemia 276556 Hyperinsulinism due to UCP2 deficiency 93160 Hypocalcemic vitamin D resistant rickets 100031 Hypoplastic amelogenesis imperfecta 35878 Hyperinsulinism-hyperammonemia 100032 Hypocalcified amelogenesis imperfecta 2248 Hypoplastic left heart syndrome syndrome 93297 293864 Hypoplastic pancreas-intestinal atresia- 682 Hyperkalemic periodic paralysis hypoplastic gallbalder syndrome 429 89939 Hyperkalemic renal tubular acidosis 3332 Hypoplastic tibiae - post axial polydactyly 36412 Hypocomplementemic leucocytoclasic 1336 Hyperkeratosis - hyperpigmentation vasculitis 2250 Hyposmia - nasal and ocular hypoplasia - syndrome hypogonadotropic hypogonadism 430 Hypodermyiasis 409 Hyperkeratosis lenticularis perstans 2261 Hypospadias - intellectual deficit, 2228 Hypodontia - dysplasia of nails Goldblatt type 140905 Hyperlipidemia due to hepatic triglyceride 989 - hypodactyly lipase deficiency 157788 Hypospadias--coloboma and 2233 Hypogonadism - mitral valve prolapse - deafness 412 Hyperlipidemia type 3 intellectual deficit 86906 Hypothalamic with gelastic 411 Hyperlipoproteinemia type 1 2230 Hypogonadotropic hypogonadism - seizures 413 Hyperlipoproteinemia type 4 frontoparietal alopecia 226307 Hypothyroidism due to deficient 70470 Hyperlipoproteinemia type 5 2235 Hypogonadotropic hypogonadism - factors involved in pituitary retinitis pigmentosa 2203 development or function 293967 Hypogonadotropic hypogonadism-severe 289891 due to glycine 90673 Hypothyroidism due to TSH receptor microcephaly-sensorineural hearing loss- N-methyltransferase deficiency mutations dysmorphism syndrome 289290 Hypermethioninemia encephalopathy due 163690 Hypotonia - cystinuria syndrome 238468 Hypohidrotic ectodermal dysplasia to adenosine kinase deficiency 79507 Hypotonia - - microcephaly 1882 Hypohidrotic ectodermal dysplasia - 73267 Hypernychthemeral syndrome 137908 Hypotonia with lactic acidemia and hypothyroidism - ciliary dyskinesia 415 Hyperornithinemia-hyperammonemia- hyperammonemia 99699 Hypohidrotic ectodermal dysplasia - homocitrullinuria 69735 Hypotrichosis - lymphedema - mydriasis -iris atrophy - intellectual deficit 3416 Hyperostosis corticalis generalisata telangiectasia 99684 Hypohidrotic ectodermal dysplasia with 99680 Hypotrichosis - pili bifurcati 416 Hyperoxaluria focal sweating 55654 Hypotrichosis simplex 93600 Hyperoxaluria non1-non2 type 98813 Hypohidrotic ectodermal dysplasia with 99880 Hyperparathyroidism - jaw tumor syndrome immunodeficiency 90368 Hypotrichosis simplex of the scalp 295002 Hyperphalangy 99669 Hypohidrotic ed with papillomas and 1573 Hypotrichosis with juvenile macular achantosis nigricans degeneration 295142 Hyperphalangy, bilateral 293964 Hypoinsulinemic hypoglycemia and body 2266 Hypotrichosis-intellectual deficit, Lopes 295140 Hyperphalangy, unilateral hemihypertrophy type 238583 Hyperphenylalaninemia 681 Hypokalemic periodic paralysis 254509 Iatrogenic botulism 247262 Hyperphosphatasia intellectual deficiency 30924 Hypomagnesemia caused by selective 99891 Iatrogenic Cushing syndrome syndrome magnesium malabsorption 453 IBIDS syndrome 157798 Hyperplastic polyposis syndrome 34527 Hypomagnesemia with normocalciuria 31709 ICCA syndrome 419 type 1 1790 Hypomandibular faciocranial dysostosis 2268 ICF syndrome 79101 Hyperprolinemia type II 100033 Hypomaturation amelogenesis imperfecta 2269 Ichthyosis - alopecia - eclabion - ectropion 31740 pneumonitis 100034 Hypomaturation-hypoplastic amelogenesis - intellectual deficit imperfecta with 2211 Hypertelorism - hypospadias - 2274 Ichthyosis - hepatosplenomegaly - polysyndactyly syndrome 2435 Hypomelanotic and hypermelanotic cerebellar degeneration cutaneous macules - retarded growth - 1519 Hypertelorism, Teebi Type 59303 Ichthyosis - hypotrichosis - sclerosing intellectual deficiency 2213 Hypertelorism-microtia-facial clefting cholangitis 85163 Hypomyelination - congenital cataract syndrome 2278 Ichthyosis - intellectual deficit - dwarfism 293958 Hypertelorism-preauricular sinus-punctual 88637 Hypomyelination - hypogonadotropic - renal impairment hypogonadism - hypodontia pits-deafness syndrome 431 Ichthyosis - male hypogonadism 2680 Hypomyelination neuropathy - 2220 Hypertrichosis cubiti - short stature 2272 Ichthyosis - oral and digital anomalies arthrogryposis 2222 Hypertrichosis lanuginosa congenita 2270 Ichthyosis congenita - biliary atresia 139441 Hypomyelination with atrophy of basal 2765 Hypertrichotic ganglia and cerebellum 79503 Ichthyosis Curth-Macklin 217601 Hypertrophic cardiomyopathy due to 2237 Hypoparathyroidism - deafness - renal 2273 Ichthyosis follicularis - alopecia - intensive athletic training disease 90282 Hypertrophic or verrucous lupus 436 Hypophosphatasia 91132 Ichthyosis hypotrichosis syndrome erythematosus 2626 Hypopituitarism - short stature - skeletal 458 2224 anomalies 79504 Ichthyosis hystrix gravior 217330 Hyperuricemia - anemia - renal failure 99058 Hypoplasia of the mitral valve annulus 2277 Ichthyosis microphthalmos 276429 Hypnic headache

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 27 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 88621 Ichthyosis prematurity syndrome 93209 Idiopathic steroid-sensitive nephrotic 98848 Indolent systemic mastocytosis syndrome with diffuse mesangial 2267 Ichthyosis-cheek-eyebrow syndrome 1909 Indomethacin embryofetopathy proliferation 930 Idiopathic achalasia 70587 acute respiratory distress syndrome 93206 Idiopathic steroid-sensitive nephrotic 95626 Idiopathic acquired central diabetes syndrome with focal segmental hyalinosis 178478 Infant botulism insipidus 93207 Idiopathic steroid-sensitive nephrotic 1943 Infant epilepsy with migrant focal crisis 724 Idiopathic acute eosinophilic pneumonia syndrome with minimal change 70590 Infantile apnea 139423 Idiopathic acute transverse myelitis 99858 Idiopathic 93591 Infantile autosomal recessive medullary 422 Idiopathic and/or familial pulmonary 209956 Idiopathic uveal effusion syndrome cystic kidney disease arterial hypertension 228140 Idiopathic ventricular fibrillation, not 2679 Infantile axonal neuropathy 280914 Idiopathic anterior uveitis Brugada type 89938 Infantile Bartter syndrome with deafness 88 Idiopathic 100078 Ileal endocrine tumor 1576 Infantile bilateral striatal necrosis 171684 Idiopathic bilateral vestibulopathy 238621 Ileal pouch anal anastomosis related 1313 Infantile choroido cerebral calcification 60033 Idiopathic faecal incontinence syndrome 228000 Idiopathic CD4 lymphocytopenia 85173 IMAGe syndrome 199267 Infantile digital fibromatosis 169615 Idiopathic central precocious puberty 42062 238455 Infantile dystonia-parkinsonism 2902 Idiopathic chronic eosinophilic pneumonia 3002 Immune thrombocytopenic purpura 284408 Infantile glycerol kinase deficiency 95717 Idiopathic congenital hypothyroidism 34592 Immunodeficiency by defective expression 289860 Infantile of HLA class 1 209919 Idiopathic copper-associated cirrhosis 247651 Infantile hypophosphatasia 572 Immunodeficiency by defective expression 35066 Idiopathic cutaneous and mucosal of HLA class 2 206436 Infantile Krabbe disease candidiasis 169150 Immunodeficiency due to a late component 247165 Infantile mercury poisoning 247724 Idiopathic eosinophilic myositis of complements deficiency 2591 Infantile myofibromatosis 2810 Idiopathic facial palsy 83471 Immunodeficiency due to absence of 35069 Infantile neuroaxonal dystrophy 89845 Idiopathic hydrops fetalis thymus 79263 Infantile neuronal ceroid lipofuscinosis 2197 Idiopathic hypercalciuria 169147 Immunodeficiency due to an early component of complement deficiency 251304 Infantile onset panniculitis with uveitis 3260 Idiopathic hypereosinophilic syndrome and systemic granulomatosis 169100 Immunodeficiency due to CD25 deficiency 33208 Idiopathic hypersomnia 1186 Infantile onset spinocerebellar ataxia 70592 Immunodeficiency due to interleukin-1 228315 Idiopathic hypersomnia with long sleep receptor-associated kinase-4 deficiency 85179 Infantile osteopetrosis with neuroaxonal time dysplasia 70593 Immunodeficiency due to selective anti- 228318 Idiopathic hypersomnia without long sleep polysaccharide antibody deficiency 772 Infantile Refsum disease time 200421 Immunodeficiency with factor H anomaly 300293 Infantile regressive hypertriglyceridemia 35062 Idiopathic infection disseminated by and hepatosteatosis cytomegalovirus 200418 Immunodeficiency with factor I anomaly 263410 Infantile spams - psychomotor retardation 238624 Idiopathic intracranial hypertension 75391 Immunodeficiency with natural-killer cell - progressive brain atrophy - basal ganglia deficiency disease 85193 Idiopathic juvenile osteoporosis 99972 Immunoglobulin A1 deficiency 3173 Infantile spasms - broad thumbs 90158 Idiopathic localized lipodystrophy 99973 Immunoglobulin A2 deficiency 1575 Infantile striato thalamic degeneration 84065 Idiopathic malabsorption due to bile acid synthesis defects 284264 Immunoglobulin G4-related sclerosing 3311 Infantile symmetrical thalamic disease degeneration 97560 Idiopathic membranous glomerulonephritis 169110 Immunoglobulin heavy chain deficiency 2176 Infantile systemic hyalinosis 45452 Idiopathic neonatal atrial flutter 103915 Immunoproliferative small intestinal 1577 Infantile thalamic degenerescence 280921 Idiopathic panuveitis disease 293168 Infantile-onset ascending hereditary 280917 Idiopathic posterior uveitis 97567 Immunotactoid glomerulopathy spastic paralysis 747 Idiopathic pulmonary alveolar proteinosis 91137 Immunotactoid or fibrillary glomerulopathy 284332 Infantile-onset autosomal recessive 275766 Idiopathic pulmonary arterial hypertension 2759 Imperforate oropharynx - costo vetebral nonprogressive cerebellar ataxia 2032 Idiopathic pulmonary fibrosis anomalies 137593 Infectious epithelial keratitis 99931 Idiopathic pulmonary 83449 Inappropriate antidiuretic hormone 289347 Infective dermatitis associated with HTLV- secretion syndrome 35061 Idiopathic recurrent and disabling 1 cutaneous herpes 45453 Incessant infant ventricular tachycardia 99123 Inferior vena cava interruption 251307 Idiopathic recurrent pericarditis 52430 Inclusion body myopathy with Paget 178342 Inflammatory myofibroblastic tumor disease of bone and frontotemporal 276174 Idiopathic recurrent stupor dementia 247718 with abundant macrophages 35065 Idiopathic severe pneumococcemia 464 90003 Inflammatory pseudotumor of the liver 137693 Idiopathic short stature 158019 Indeterminate cell histiocytosis 238305 Infundibulo-neurohypophysitis 69061 Idiopathic steroid-sensitive nephrotic 101335 Indian tick typhus syndrome

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 28 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 1849 Infundibulopelvic stenosis - multicystic 85295 Intellectual deficit, X-linked - 85285 Intellectual deficit, X-linked, Schimke type kidney choreoathetosis - abnormal behavior 3062 Intellectual deficit, X-linked, Schutz type 247257 Inhalation anthrax disease 85330 Intellectual deficit, X-linked - corpus 85323 Intellectual deficit, X-linked, Seemanova callosum agenesis - spastic quadriparesis 254504 Inhalational botulism type 163979 Intellectual deficit, X-linked - 210141 Inherited congenital spastic tetraplegia 85286 Intellectual deficit, X-linked, Shashi type craniofacioskeletal syndrome 282166 Inherited Creutzfeldt-Jakob disease 85324 Intellectual deficit, X-linked, Shrimpton 85280 Intellectual deficit, X-linked - cubitus type 289548 Inherited isolated adrenal insufficiency valgus - dysmorphism 85287 Intellectual deficit, X-linked, Siderius type 225968 Inherited predisposition to essential 1568 Intellectual deficit, X-linked - Dandy- thrombocythemia Walker malformation - basal ganglia 3063 Intellectual deficit, X-linked, Snyder type 63259 Iniencephaly disease - Seizures 85325 Intellectual deficit, X-linked, Stevenson type 97279 Insulinoma 2958 Intellectual deficit, X-linked - dysmorphism - cerebral atrophy 85288 Intellectual deficit, X-linked, Stocco Dos 2297 Insulin-resistance syndrome type A 85319 Intellectual deficit, X-linked - epilepsy Santos type 2298 Insulin-resistance syndrome type B - progressive joint contractures - 85328 Intellectual deficit, X-linked, Turner type 289483 Intellectual deficit - alacrima - achalasia dysmorphism 163976 Intellectual deficit, X-linked, Van Esch 1236 Intellectual deficit - athetosis- 85317 Intellectual deficit, X-linked - type microphthalmia - progressive neurological deterioration 85289 Intellectual deficit, X-linked, Vitale type 3041 Intellectual deficit - balding - patella 85290 Intellectual deficit, X-linked, Wilson type luxation - acromicria 85331 Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - 3064 Intellectual deficit, X-linked, Wittner type 3042 Intellectual deficit - cataracts - calcified short stature pinnae - myopathy 85291 Intellectual deficit, X-linked, Wittwer type 85329 Intellectual deficit, X-linked - hypotonia - 171860 Intellectual deficit - cataracts - facial dysmorphism - aggressive behavior 85337 Intellectual deficit, X-linked, Zorick type 3044 Intellectual deficit - dysmorphism - 85320 Intellectual deficit, X-linked - 3046 Intellectual deficit-unusual facies, Davis- hypogonadism - diabetes mellitus macrocephaly - macro-orchidism Lafer type 3048 Intellectual deficit - hypocupremia - 2898 Intellectual deficit, X-linked - 1478 Interauricular communication hypobetalipoproteinemia 86900 Interdigitating dendritic cell sarcoma 1495 Intellectual deficit - hypoplastic corpus 85318 Intellectual deficit, X-linked - precocious 99898 Interferon gamma receptor 1 deficiency callosum - preauricular tag puberty - obesity 99989 Intermediate DEND syndrome 3050 Intellectual deficit - hypotonia - skin 3077 Intellectual deficit, X-linked - psychosis - hyperpigmentation macroorchidism 268162 Intermediate maple syrup urine disease 3067 Intellectual deficit - microcephaly - 85332 Intellectual deficit, X-linked - retinitis 171433 Intermediate nemaline myopathy phalangeal - facial abnormalities pigmentosa 210110 Intermediate osteopetrosis 3313 Intellectual deficit - microcephaly - 3052 Intellectual deficit, X-linked - seizures - 99134 Intermediate stomatocytosis syndrome unusual facies psoriasis 268173 Intermittent maple syrup urine disease 3068 Intellectual deficit - myopathy - short 3055 Intellectual deficit, X-linked - short 981 Internal carotid agenesis stature - endocrine defect stature - obesity 37202 Interstitial cystitis 3082 Intellectual deficit - polydactyly - 163982 Intellectual deficit, X-linked - spastic uncombable hair quadriparesis 79099 Interstitial granulomatous dermatitis with arthritis 2954 Intellectual deficit - short broad thumbs 85273 Intellectual deficit, X-linked, Abidi type 99092 Interventricular septum aneurysm 3074 Intellectual deficit - short stature - 85276 Intellectual deficit, X-linked, Armfield type hypertelorism 178481 Intestinal botulism 3056 Intellectual deficit, X-linked, Brooks type 3051 Intellectual deficit - sparse hair - 92050 Intestinal epithelial dysplasia brachydactyly 85277 Intellectual deficit, X-linked, Cantagrel type 36204 Intestinal lymphangiectasia 1891 Intellectual deficit - spasticity - ectrodactyly 163971 Intellectual deficit, X-linked, Cilliers type 1057 Intracranial - multiple congenital anomalies 3043 Intellectual deficit - unusual facies 3059 Intellectual deficit, X-linked, Gu type 2449 Intracranial arteriovenous malformation 3045 Intellectual deficit - unusual facies - 163961 Intellectual deficit, X-linked, Kroes type 48736 Intracranial embryonal carcinoma talipes - hand anomalies 775 Intellectual deficit, X-linked, Martinez 166108 Intellectual deficit, Birk-Barel type type 137622 Intractable diarrhea - choanal atresia - eye anomalies 3079 Intellectual deficit, Buenos-Aires type 85283 Intellectual deficit, X-linked, Miles- Carpenter type 73014 Intractable diarrhea of infancy 168972 Intellectual deficit, Kahrizi type 163956 Intellectual deficit, X-linked, Nascimento 69665 Intrahepatic cholestasis of pregnancy 3080 Intellectual deficit, Wolff type type 280802 Intralobar congenital pulmonary 85327 Intellectual deficit, X-linked - acromegaly 85322 Intellectual deficit, X-linked, Pai type sequestration - hyperactivity 163953 Intellectual deficit, X-linked, Raymond 99088 Intramural coronary arterial course 137831 Intellectual deficit, X-linked - cerebellar type hypoplasia 100003 Intraneural perineurioma 3061 Intellectual deficit, X-linked, Raynaud type 268139 Intraocular medulloepithelioma

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 29 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 3036 Intrauterine growth retardation - 99171 Isolated congenital ectropion 264691 Isolated pulmonary capillaritis mandibular malar hypoplasia 141152 Isolated congenital hypoglossia/aglossia 35093 Isolated scaphocephaly 98839 Intravascular large B-cell lymphoma 91489 Isolated congenital megalocornea 823 Isolated spina bifida 90078 Invasive infections due to Vancomycin 162516 Isolated congenital nasal pyriform 178311 Isolated sternocostoclavicular hyperostosis Resistant Enterococci aperture stenosis 3208 Isolated succinate-CoQ reductase 99925 Invasive mole 91490 Isolated congenital sclerocornea deficiency 98951 Inverse Marcus-Gunn phenomenon 216718 Isolated congenitally uncorrected 99731 Isolated sulfite oxidase deficiency 209981 IRIDA syndrome transposition of the great arteries 90674 Isolated thyroid-stimulating hormone 64734 Iridocorneal endothelial syndrome 1460 Isolated CoQ-cytochrome C reductase deficiency deficiency 2995 Iris coloboma with ptosis - intellectual 238670 Isolated thyrotropin-releasing hormone deficit 91396 Isolated cryptophthalmia deficiency 1831 Iris dysplasia - hypertelorism - deafness 254905 Isolated cytochrome C oxidase deficiency 269206 Isolated total cerebellar vermis agenesis 209943 IRVAN syndrome 217 Isolated Dandy-Walker malformation 3366 Isolated 84142 Isaac's syndrome 269212 Isolated Dandy-Walker malformation with 269218 Isolated unilateral hemispheric cerebellar hydrocephalus hypoplasia 90075 Ischemia/perfusion injury associated with solid procedure 269215 Isolated Dandy-Walker malformation 472 Isosporiasis without hydrocephalus 85200 Ischio-vertebral syndrome 2305 Isotretinoin syndrome 248340 Isolated delta-storage pool disease 79159 Isobutyryl-CoA dehydrogenase deficiency 2306 Isotretinoin-like syndrome 99177 Isolated distichiasis 96325 Y 33 34528 Isolated dominant hypomagnesemia 98797 Isochromosomy Yp 435 Ito hypomelanosis 221106 Isolated facial myokymia 98798 Isochromosomy Yq 97548 Ivemark syndrome 65683 Isolated focal cortical dysplasia 6 Isolated 3-methylcrotonyl-CoA carboxylase 2307 IVIC syndrome deficiency 268961 Isolated focal cortical dysplasia type I 1540 Jackson-Weiss syndrome 289465 Isolated adermatoglyphia 268973 Isolated focal cortical dysplasia type Ia 2308 229717 Isolated agammaglobulinemia 268980 Isolated focal cortical dysplasia type Ib 1873 Jalili syndrome 268868 Isolated amyelia 268987 Isolated focal cortical dysplasia type Ic 79139 Japanese encephalitis 1048 Isolated /exencephaly 268994 Isolated focal cortical dysplasia type II 139431 Jeavons syndrome 250923 Isolated aniridia 269001 Isolated focal cortical dysplasia type IIa 100077 Jejunal endocrine tumor 91397 Isolated ankyloblepharon filiforme 269008 Isolated focal cortical dysplasia type IIb 90647 Jervell and Lange-Nielsen syndrome adnatum 52901 Isolated follicle stimulating hormone 33314 Jessner's lymphocytic infiltration of the 2542 Isolated anophthalmia - microphthalmia deficiency skin 557 Isolated anorectal malformation 231662 Isolated deficiency type 474 Jeune syndrome IA 3387 Isolated anterior cervical hypertrichosis 2315 Johanson-Blizzard syndrome 231671 Isolated growth hormone deficiency type 268936 Isolated arhinencephaly IB 475 206599 Isolated asymptomatic elevation of 231679 Isolated growth hormone deficiency type 1454 Joubert syndrome with hepatic defect phosphokinase II 220493 Joubert syndrome with ocular defect 254913 Isolated ATP synthase deficiency 231692 Isolated growth hormone deficiency type 2318 Joubert syndrome with oculorenal defect 199326 Isolated autosomal dominant III hypomagnesemia, Glaudemans type 2754 Joubert syndrome with orofaciodigital 2345 Isolated Klippel-Feil syndrome defect 269221 Isolated bilateral hemispheric cerebellar 1084 Isolated lissencephaly type 1 without hypoplasia 220497 Joubert syndrome with renal defect known genetic defects 158778 Isolated bone marrow mastocytosis 2319 Juberg-Hayward syndrome 268920 Isolated megalencephaly 35099 Isolated 93972 Juberg-Marsidi syndrome 95707 Isolated 180188 Isolated breast aplasia 305 Junctional epidermolysis bullosa 2609 Isolated NADH-CoQ reductase deficiency 1398 Isolated cerebellar hypoplasia/agenesis 79403 Junctional epidermolysis bullosa - pyloric 407 Isolated nonketotic hyperglycinemia atresia 269203 Isolated cerebellar vermis agenesis 137902 Isolated 79405 Junctional epidermolysis bullosa inversa 199630 Isolated cerebellar vermis hypoplasia 166119 Isolated osteopoikilosis 79404 Junctional epidermolysis bullosa, Herlitz 2343 Isolated cloverleaf skull syndrome 63440 Isolated type 91416 Isolated congenital alacrima 269209 Isolated partial cerebellar vermis agenesis 89840 Junctional epidermolysis bullosa, non- 88620 Isolated congenital anosmia Herlitz type 96269 Isolated partial vaginal agenesis 162526 Isolated congenital auditory ossicle 2321 Jung-Wolff-Back-Stahl syndrome 718 Isolated Pierre Robin syndrome malformation 1941 Juvenile absence epilepsy 35098 Isolated plagiocephaly 217059 Isolated congenital digital clubbing 300605 Juvenile Amyotrophic lateral sclerosis

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 30 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 93592 Juvenile autosomal recessive medullary 101336 Kenya tick typhus 79314 L-2-hydroxyglutaric aciduria cystic kidney disease 2336 Keratoderma - hypotrichosis - 2363 Lacrimo-auriculo-dento-digital syndrome 247794 Juvenile cataract - microcornea - renal 494 Keratoderma hereditarium mutilans 2364 Lactate dehydrogenase deficiency glucosuria 50943 Keratolytic winter erythema 284435 Lactate dehydrogenase H-subunit 2778 Juvenile chronic recurrent multifocal deficiency osteomyelitis 2339 follicularis - dwarfism - cerebral atrophy 284426 Lactate dehydrogenase M-subunit 93672 deficiency 2340 Keratosis follicularis spinulosa decalvans 2929 Juvenile gastrointestinal polyposis 501 Lafora disease 281201 Keratosis linearis - ichthyosis congenita - 98977 Juvenile glaucoma sclerosing keratoderma 59135 Laing distal myopathy 284411 Juvenile glycerol kinase deficiency 86919 Keratosis palmaris et plantaris - 1296 Lambert syndrome 248111 Juvenile Huntington disease clinodactyly 43393 Lambert-Eaton myasthenic syndrome 2028 Juvenile hyaline fibromatosis 99708 Keratosis palmoplantaris - drumstick 313 fingers - hypotrichosis - hypohidrosis - 86834 Juvenile myelomonocytic leukemia dental dysplasia 137871 Laminopathy type Decaudain-Vigouroux 307 Juvenile myoclonic epilepsy 2198 Keratosis palmoplantaris - esophageal 98818 Landau-Kleffner syndrome 289596 Juvenile nasopharyngeal carcinoma 2632 Langer mesomelic dysplasia 79264 Juvenile neuronal ceroid lipofuscinosis 99707 Keratosis palmoplantaris maculosa, 502 Langer-Giedion syndrome 2801 Juvenile Paget's disease papulosa, nummularis 389 Langerhans cell histiocytosis 93568 Juvenile 89834 Keratosis palmoplantaris papulosa 264955 Langerhans cell histiocytosis in childhood 79076 Juvenile polyposis of infancy 50942 Keratosis palmoplantaris striata and adulthood 247604 Juvenile primary lateral sclerosis 498 atrophicans 264750 Langerhans cell histiocytosis specific to adulthood 85436 Juvenile psoriatic arthritis 140966 Keratosis, Nagashima-type 264724 Langerhans cell histiocytosis specific to 85408 Juvenile rheumatoid factor-negative 499 Kerion celsi childhood polyarthritis 293807 Ketamine-induced biliary dilatation 86897 Langerhans cell sarcoma 247854 Juvenile rheumatoid factor-negative 134 Ketoacidosis due to betaketothiolase polyarthritis with anti-nuclear antibodies deficiency 626 Large congenital 247861 Juvenile rheumatoid factor-negative 85202 633 polyarthritis without anti-nuclear 477 KID syndrome 220465 Laron syndrome with immunodeficiency antibodies 97332 Kienbock disease 2370 Larsen-like osseous dysplasia - short 85435 Juvenile rheumatoid factor-positive stature polyarthritis 50918 Kikuchi-Fujimoto disease 284139 Larsen-like syndrome, B3GAT3 type 93399 Juvenile sialidosis type 2 482 Kimura disease 2808 Laryngeal abductor paralysis 26137 Juvenile temporal arteritis 2908 2375 Laryngeal abductor paralysis - intellectual 158000 Juvenile xanthogranuloma 99741 King-Denborough syndrome deficit 99100 Juxtaposition of the atrial appendages 99978 Klatskin tumor 93961 Laryngeal dyskinesia 2322 261494 Kleefstra syndrome 100083 Laryngeal endocrine tumor 2324 Kaler-Garrity-Stern syndrome 261652 Kleefstra syndrome due to a point mutation 2372 478 Kallmann syndrome 96147 Kleefstra syndrome due to monosomy 9q34 137935 Laryngotracheal angioma 2326 Kallmann syndrome - heart disease 33543 Kleine-Levin syndrome 2004 Laryngo-tracheo-esophageal cleft 2327 Kalyanaraman syndrome 90308 Klippel-Trenaunay syndrome 2005 Laryngo-tracheo-esophageal cleft - 99179 Kandori's fleck retina 157823 Klüver-Bucy syndrome pulmonary hypoplasia 2122 Kaposiform hemangioendothelioma 485 280205 Laryngo-tracheo-esophageal cleft type 0 33276 Kaposi's sarcoma 1571 Knobloch syndrome 93938 Laryngo-tracheo-esophageal cleft type 1 2328 Kapur-Toriello syndrome 2698 Knuckle pads - leuconychia - sensorineural 93939 Laryngo-tracheo-esophageal cleft type 2 deafness 2329 Karsch-Neugebauer syndrome 93940 Laryngo-tracheo-esophageal cleft type 3 51890 Komar syndrome 2330 Kasabach-Merritt syndrome 93941 Laryngo-tracheo-esophageal cleft type 4 99077 Kommerell diverticulum 2331 Kawasaki disease 1202 atresia 99749 Kostmann syndrome 2332 KBG syndrome 99824 Lassa fever 2351 Kousseff syndrome 480 Kearns-Sayre syndrome 168491 Late infantile neuronal ceroid 2352 Kozlowski-Brown-Hardwick syndrome lipofuscinosis 2662 Keipert syndrome 487 Krabbe disease 206443 Late-infantile or juvenile Krabbe disease 79233 Kelley-Seegmiller syndrome 1801 Kyphomelic dysplasia 93589 Late-onset autosomal recessive medullary 481 Kennedy disease cystic kidney disease 1559 Kyphosis - brachyphalangy - optic atrophy 2333 Kenny-Caffey syndrome 228227 Late-onset focal dermal elastosis 275543 L1 syndrome

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 31 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 199299 Late-onset isolated ACTH deficiency 1420 Lethal chondrodysplasia, Moerman type 49804 Lichen amyloidosis 79406 Late-onset junctional epidermolysis 1421 Lethal chondrodysplasia, Seller type 525 Lichen planopilaris bullosa 1486 Lethal congenital contracture syndrome 254478 Lichen planus pemphigoides 231556 Late-onset localized junctional type 1 254463 Lichen planus pigmentosus epidermolysis bullosa - intellectual deficit 137776 Lethal congenital contracture syndrome 2390 Lichstenstein syndrome 67042 Late-onset retinal degeneration type 2 526 Liddle syndrome 2789 Lateral meningocele syndrome 137783 Lethal congenital contracture syndrome type 3 524 Li-Fraumeni syndrome 46059 1972 Lethal faciocardiomelic dysplasia 99812 LIG4 syndrome 98964 Lattice corneal dystrophy type I 1046 Lethal hemolytic anemia - genital 93557 Light and heavy chain deposition disease 98965 Lattice corneal dystrophy type II anomalies 93558 Light chain deposition disease 99094 Laubry-Pezzi syndrome 35064 Lethal idiopathic viral infection 97231 Ligneous conjunctivitis 2377 Laurence-Moon syndrome 254857 Lethal infantile mitochondrial myopathy 2369 Limb body wall complex 2378 Laurin-Sandrow syndrome 2347 Lethal Kniest-like dysplasia 93957 Limb dystonia 650 LCAT deficiency 2371 Lethal Larsen-like syndrome 2492 Limb transversal defect - cardiac anomaly 65 Leber congenital amaurosis 33108 Lethal multiple pterygium syndrome 163892 Limbic encephalitis 104 Leber hereditary optic neuropathy 293925 Lethal occipital encephalocele-skeletal 217253 Limbic encephalitis associated with NMDA 99718 Leber 'plus' disease dysplasia syndrome receptor antibodies 199251 Ledderhose disease 2736 Lethal omphalocele-cleft palate syndrome 276402 Limbic encephalitis with caspr2 antibodies 99111 Left superior vena cava persisting to left- 1832 Lethal osteosclerotic bone dysplasia 163908 Limbic encephalitis with VGKC antibodies sided atrium 210144 Lethal polymalformative syndrome, Boissel 163914 Limbic encephalitis, with nCMAgs 54260 Left ventricular noncompaction type antibodies 2380 Legg-Calve-Perthes disease 1423 Lethal recessive chondrodysplasia 69085 Limb-mammary syndrome 549 Legionellosis 1662 Lethal 220402 Limited cutaneous systemic sclerosis 137605 99870 Letterer-Siwe disease 220407 Limited systemic sclerosis 506 Leigh syndrome 2968 Leukocyte adhesion deficiency 79150 Linear and whorled nevoid hypermelanosis 70474 Leigh syndrome with cardiomyopathy 99842 Leukocyte adhesion deficiency type I 140933 Linear atrophoderma of Moulin 255241 Leigh syndrome with leukodystrophy 99843 Leukocyte adhesion deficiency type II 228236 Linear focal dermal elastosis 255249 Leigh syndrome with nephrotic syndrome 99844 Leukocyte adhesion deficiency type III 46488 Linear IgA dermatosis 64720 171857 Leukodystrophy - spastic paraplegia - 79466 Linear inflammatory verrucous epidermal 213807 Leiomyosarcoma of the cervix uteri dystonia nevus 213625 Leiomyosarcoma of the corpus uteri 2385 Leukodystrophy, Reunion type 254379 Linear lichen planus 507 Leishmaniasis 137639 Leukoencephalopathy - ataxia - hypodontia 2612 Linear nevus sebaceus syndrome - hypomyelination 140936 Lelis syndrome 2611 Linear verrucous nevus syndrome 163684 Leukoencephalopathy - dystonia - motor 137839 Lemierre syndrome neuropathy 77243 Lipedema 2382 Lennox-Gastaut syndrome 83629 Leukoencephalopathy - metaphyseal 156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, 2658 Lenz-Majewski hyperostotic dwarfism chondrodysplasia and hypertrophic cardiomyopathy 99682 Lenz-passarge dysplasia 2386 Leukoencephalopathy - palmoplantar keratoderma 247762 500 LEOPARD syndrome 139444 Leukoencephalopathy with bilateral 50811 Lipodystrophy - intellectual deficit - 508 Leprechaunism anterior temporal lobe cysts deafness 548 Leprosy 137898 Leukoencephalopathy with brain stem and 1979 Lipodystrophy due to peptidic growth 268838 Leptomyelolipoma involvement - lactate elevation factors deficiency 509 Leptospirosis 2387 Leukonychia totalis 79089 Lipodystrophy in Immunodeficiency Virus-infected patients 2900 Leri pleonosteosis 210133 Leukonychia totalis - acanthosis-nigricans- like lesions - abnormal hair 530 Lipoid proteinosis 240 Léri-Weill dyschondrosteosis 95854 Levocardia 268835 Lipomyelomeningocele 510 Lesch-Nyhan syndrome 48162 Lewis-Sumner syndrome 69078 Liposarcoma 101031 Leshima-Koeda-Inagaki syndrome - intellectual deficit 755 hypoplasia 98955 Lisch epithelial corneal dystrophy 158687 Lethal acantholytic epidermolysis bullosa 96265 LH resistance due to complete LH receptor 101356 Lissencephaly - demyelinating axonal inactivation neuropathy 53696 Lethal arthrogryposis - anterior horn cell disease 96266 LH resistance due to partial LH receptor 95232 Lissencephaly due to LIS1 mutation inactivation 1187 Lethal ataxia with deafness and optic 171680 Lissencephaly due to TUBA1A mutation atrophy 65285 Lhermitte-Duclos disease

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 32 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 89844 Lissencephaly syndrome, Norman-Roberts 2408 Lowe-Kohn-Cohen syndrome 79489 Macrocystic lymphatic malformation type 2487 Lower limb deficiency - hypospadias 295044 Macrodactyly of fingers 2148 Lissencephaly type 1 due to doublecortin 295051 Lower limb hypertrophy 295241 Macrodactyly of fingers, bilateral gene mutation 141064 Lower lip fistula 295239 Macrodactyly of fingers, unilateral 86821 Lissencephaly type 3 - familial fetal akinesia sequence 276435 Lower motor neuron syndrome with late- 295047 Macrodactyly of toes adult onset 86822 Lissencephaly type 3 - metacarpal bone 295245 Macrodactyly of toes, bilateral 140949 Low-flow priapism dysplasia 295243 Macrodactyly of toes, unilateral 2409 Lowry-MacLean syndrome 100011 Lissencephaly with cerebellar hypoplasia 592 Macrophagic myofasciitis type A 1824 Lowry-Wood syndrome 2432 Macrosomia - microphthalmia - cleft palate 100012 Lissencephaly with cerebellar hypoplasia 2455 Lumbar malsegmentation - short stature type B 83619 Macrostomia - preauricular tags - external 268388 Lumbosacral spina bifida aperta ophthalmoplegia 100013 Lissencephaly with cerebellar hypoplasia type C 268758 Lumbosacral spina bifida cystica 220448 Macrothrombocytopenia with mitral valve insufficiency 100014 Lissencephaly with cerebellar hypoplasia 1120 Lung agenesis - heart defect - thumb type D anomalies 217335 MACS syndrome 100015 Lissencephaly with cerebellar hypoplasia 137631 Lung fibrosis - immunodeficiency - 46,XX 137814 Macular amyloidosis gonadal dysgenesis type E 91494 Macular coloboma - cleft palate - hallux 100016 Lissencephaly with cerebellar hypoplasia 90285 Lupus erythematosus panniculitis valgus type F 90283 Lupus erythematosus tumidus 98969 Macular corneal dystrophy 533 Listeriosis 537 Lyell syndrome 90287 Maculopapular lupus rash 369 Liver phosphorylase deficiency 91546 Lyme disease 35688 Madelung deformity 93924 Lobar holoprosencephaly 538 295223 Madelung deformity, bilateral 93685 Localized Castleman disease 2035 Lymphatic filariasis 295221 Madelung deformity, unilateral 2199 Localized epidermolytic palmoplantar 2415 Lymphatic malformation 137867 Madras motor neuron disease hyperkeratosis 86915 Lymphedema - atrial septal defects - facial 163634 1823 Localized epiphyseal dysplasia changes 77297 Majeed syndrome 251393 Localized junctional epidermolysis bullosa, 86914 Lymphedema - cerebral arteriovenous 210272 Mal de debarquement non-Herlitz type anomaly 87503 Mal de Meleda 86795 Localized lichen myxedematosus 86917 Lymphedema - cleft palate 556 Malakoplakia 90398 Localized lichen myxedematosus with 33001 Lymphedema - distichiasis mixed features of different subtypes 673 Malaria 158793 Lymphoadenopathic mastocytosis with 90399 Localized lichen myxedematosus with eosinophilia 2234 Male hypergonadotropic hypogonadism - monoclonal gammopathy or systemic intellectual deficit - skeletal anomalies symptoms 98846 Lymphocyte-depleted classical Hodgkin lymphoma 137893 Male infertility associated with large- 178517 Localized pagetoid reticulosis headed multiflagellar polyploid 98845 Lymphocyte-rich classical Hodgkin spermatozoa 263534 Localized peeling skin syndrome lymphoma 217034 Male infertility with normal virilization 90289 Localized 65279 Lymphocytic colitis due to meiosis defect 2406 Locked-in syndrome 289682 Lymphoepithelial-like carcinoma 289385 Malignancy diagnosed during pregnancy 75566 Loeffler's endocarditis 79128 Lymphoid interstitial pneumonia 679 Malignant atrophic papulosis 60030 Loeys-Dietz syndrome type 1 86869 Lymphomatoid granulomatosis 99912 Malignant dysgerminomatous germ cell 2407 LOGIC syndrome 98842 Lymphomatoid papulosis tumor 250831 Logopenic progressive aphasia 470 Lysinuric protein intolerance 2023 Malignant fibrous 2404 Loiasis 275761 Lysosomal acid lipase deficiency 213837 Malignant germ cell tumor of the cervix uteri 5 Long chain 3-hydroxyacyl-CoA 276238 Machado-Joseph disease type 1 dehydrogenase deficiency 213751 Malignant germ cell tumor of the corpus 276241 Machado-Joseph disease type 2 99900 Long chain Acyl-CoA dehydrogenase uteri 276244 Machado-Joseph disease type 3 deficiency 423 Malignant hyperthermia 60040 Macrocephaly - capillary malformation 180157 Longitudinal 2215 Malignant hyperthermia - arthrogryposis - 168 94061 Macrocephaly - immune deficiency - torticollis anemia 1532 Lopez-Hernandez syndrome 168999 Malignant melanoma of the mucosa 2426 Macrocephaly - mesomelic - talipes 79395 Loricrin keratoderma 293181 Malignant migrating partial seizures of 2427 Macrocephaly - short stature - paraplegia infancy 2621 - dwarfism - dysgammaglobulinemia 2429 Macrocephaly - spastic paraplegia - 213512 Malignant mixed epithelial mesenchymal dysmorphism tumor of the ovary 251633 Low grade ependymoma 210548 Macrocephaly-autism syndrome 213610 Malignant mixed müllerian tumor of the 69663 Low phospholipid associated cholelithiasis corpus uteri

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 33 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 213787 Malignant müllerian mixed tumor of the 254534 Maternal 14q32.2 hypermethylation 2006 Median cleft lip/mandibule cervix uteri syndrome 141239 Median cleft of the upper lip and 252128 Malignant perineurioma 254528 Maternal 14q32.2 microdeletion syndrome 2699 Median nodule of the upper lip 3148 Malignant peripheral nerve sheath tumor 2209 Maternal hyperphenylalaninemia 63999 Mediastinal fibrosis 213812 Malignant peripheral neuroectodermal 2216 Maternal hyperthermia induced birth 101022 Mediterranean macrothrombocytopenia tumor of the cervix uteri defects 101338 Mediterranean spotted fever 213630 Malignant peripheral neuroectodermal 251009 Maternal uniparental disomy of tumor of the corpus uteri 42 Medium chain acyl-CoA dehydrogenase deficiency 168811 Malignant peritoneal 97678 Maternal uniparental disomy of 171851 MEDNIK syndrome 252212 Malignant triton tumor 96184 Maternal uniparental disomy of 1309 Medullary sponge kidney 180242 Malignant tumor of fallopian tube chromosome 14 1332 Medullary thyroid carcinoma 943 Malonic aciduria 96185 Maternal uniparental disomy of 616 Medulloblastoma 99090 Malposition of the coronary ostium 251858 Medulloblastoma with extensive nodularity 52417 MALT lymphoma 96179 Maternal uniparental disomy of 251883 Medulloepithelioma 50920 Mammary polyadenomatosis 98954 Meesmann corneal dystrophy 238744 Mammary-digital-nail syndrome 96186 Maternal uniparental disomy of chromosome 20 97252 Mega-cisterna magna 141174 Mandibular arteriovenous malformation 96187 Maternal uniparental disomy of 2241 Megacystis - microcolon - intestinal 2457 hypoperistalsis - hydronephrosis 90153 Mandibuloacral dysplasia with type A 96188 Maternal uniparental disomy of 238637 Megacystis-megaureter syndrome lipodystrophy 2478 Megalencephalic leukoencephalopathy 90154 Mandibuloacral dysplasia with type B 96180 Maternal uniparental disomy of with subcortical cysts lipodystrophy 2477 Megalencephaly 2458 Mandibulofacial dysostosis - deafness - 96181 Maternal uniparental disomy of postaxial polydactyly 83473 Megalencephaly - polymicrogyria - post- axial polydactyly - hydrocephalus 99143 Mandibulo-facial dysostosis - lymphedema 96183 Maternal uniparental disomy of syndrome chromosome 9 238763 Megalocornea - spherophakia - secondary glaucoma 79113 Mandibulofacial dysostosis-microcephaly 261519 Maternal uniparental disomy of syndrome chromosome X 2479 Megalocornea-intellectual deficit syndrome 2459 Mansonellosis 225 Maternally inherited diabetes and deafness 85282 MEHMO syndrome 52416 255210 Maternally-inherited Leigh syndrome 90186 Meige disease 511 Maple syrup urine disease 255222 Maternally-inherited mitochondrial dilated 252206 Melanoma neural system tumor syndrome 228157 Marburg acute multiple sclerosis cardiomyopathy 97338 Melanoma of soft part 99826 Marburg disease 254851 Maternally-inherited mitochondrial 51013 Melanoma-pancreatic cancer syndrome dystonia 221074 Marchiafava-Bignami disease 550 MELAS syndrome 255225 Maternally-inherited mitochondrial 91412 Marcus-Gunn syndrome hypertrophic cardiomyopathy 2482 Melhem-Fahl syndrome 2461 Marden-Walker syndrome 663 Maternally-inherited progressive external 31202 Melioidosis 558 ophthalmoplegia 2483 Melkersson-Rosenthal syndrome 284963 Marfan syndrome type 1 2470 Matthew-Wood syndrome 2485 Melorheostosis 284973 Marfan syndrome type 2 141171 Maxillary arteriovenous malformation 1879 Melorheostosis with osteopoikilosis 2463 Marfanoid habitus - intellectual deficit, 1248 Maxillo-nasal dysplasia 54370 Membranoproliferative glomerulonephritis autosomal recessive 3109 Mayer-Rokitansky-Küster-Hauser syndrome 93570 Membranoproliferative glomerulonephritis 2464 Marfanoid syndrome, De Silva type 850 May-Hegglin thrombocytopenia type 1 90338 Margarita island ectodermal dysplasia 57782 Mazabraud syndrome 93571 Membranoproliferative glomerulonephritis type 2 444 Marie Unna congenital hypotrichosis 562 McCune-Albright syndrome 93572 Membranoproliferative glomerulonephritis 101104 Marin-Amat syndrome 2471 McDonough syndrome type 3 559 Marinesco-Sjögren syndrome 2473 McKusick-Kaufman syndrome 69063 Membranous congenital glomerulonephritis 101337 Marseilles fever 2474 McLain-Dekaban syndrome due to anti-maternal neutral endopeptidase alloimmunisation 560 59306 McLeod syndrome 748 Mendelian susceptibility to mycobacterial 42642 Marshall's syndrome with periodic fever 3097 Meacham syndrome diseases 561 Marshall-Smith syndrome 564 Meckel syndrome 2494 Menetrier's disease 2466 MASA syndrome 70588 Meconium aspiration syndrome 45360 Meniere disease 98851 Mast cell leukemia 2476 Medeira-Dennis-Donnai syndrome 252046 Meningeal melanocytoma 66661

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 34 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 2495 Meningioma 26 Methylmalonic acidemia with 2519 Microcephaly - seizures - intellectual homocystinuria deficit - heart disease 33475 Meningococcal meningitis 79282 Methylmalonic acidemia with 268907 Microcephaly vera 565 homocystinuria, type cblC 268912 Microcephaly with simplified gyral pattern 551 MERRF syndrome 79283 Methylmalonic acidemia with 294016 Microcephaly-capillary malformation 99701 Mesial temporal lobe epilepsy with homocystinuria, type cblD syndrome hippocampal sclerosis 79284 Methylmalonic acidemia with 2528 Microcephaly-microcornea syndrome, 157801 Mesoaxial synostotic syndactyly with homocystinuria, type cblF Seemanova type phalangeal reduction 293355 Methylmalonic acidemia without 2535 Microcornea - corectopia - macular 95443 Mesocardia homocystinuria hypoplasia 2631 Mesomelic dwarfism - cleft palate - 944 Methylmalonic aciduria - microcephaly - 2536 Microcornea - glaucoma - absent frontal camptodactyly cataract sinuses 2633 Mesomelic dwarfism, Nievergelt type 280183 Methylmalonic aciduria due to 231736 Microcornea - posterior megalolenticonus transcobalamin receptor defect 2634 Mesomelic dwarfism, Reinhardt-Pfeiffer - persistent fetal vasculature - coloboma type 29 Mevalonic aciduria 98956 Microcystic corneal dystrophy 1835 Mesomelic dysplasia - skin dimples 2507 Mickleson syndrome 79490 Microcystic lymphatic malformation 1836 Mesomelic dysplasia, Kantaputra type 2508 Micrencephaly - corpus callosum agenesis 83642 with liver iron overload 85170 Mesomelic dysplasia, Savarirayan type - abnormal genitalia 1643 Microdeletion Xp22.3 50251 Mesothelioma 2510 Micro syndrome 217377 Microduplication Xp11.22-p11.23 2511 Microbrachycephaly - ptosis - cleft lip 171690 Metabolic myopathy due to lactate syndrome transporter defect 2643 Microcephalic - , 280200 Microform holoprosencephaly 2499 Toriello type 2538 Microgastria - limb reduction defect 512 Metachromatic leukodystrophy 85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type 1083 1240 Metaphyseal acroscyphodysplasia 2636 Microcephalic osteodysplastic primordial 50810 Microlissencephaly - micromelia 1040 Metaphyseal anadysplasia dwarfism types 1 and 3 101052 Microlissencephaly type B 166035 Metaphyseal chondrodysplasia - retinitis 2637 Microcephalic osteodysplastic primordial 2641 Micromelic dwarfism, Fryns type pigmentosa short stature type 2 85275 Microphthalmia - ankyloblepharon - 33067 Metaphyseal chondrodysplasia, Jansen 2513 Microcephaly - albinism - digital anomalies intellectual deficit type 3433 Microcephaly - brachydactyly - 77299 Microphthalmia - brain atrophy 166038 Metaphyseal chondrodysplasia, Kaitila kyphoscoliosis type 2543 Microphthalmia - cataract 2523 Microcephaly - brain defect - spasticity - 174 Metaphyseal chondrodysplasia, Schmid hypernatremia 2547 Microphthalmia - microtia - fetal akinesia type 2516 Microcephaly - cardiac defect - lung 251279 Microphthalmia - retinitis pigmentosa - 2501 Metaphyseal chondrodysplasia, Spahr type malsegmentation foveoschisis - optic disc drusen 99646 Metaphyseal chondromatosis with d-2- 2515 Microcephaly - cardiomyopathy 139471 Microphthalmia with brain and hydroxyglutaric aciduria anomalies 2522 Microcephaly - cervical spine fusion 2502 Metaphyseal dysostosis - intellectual anomalies 1106 Microphthalmia with limb anomalies deficit - conductive deafness 2521 Microcephaly - cleft palate 568 Microphthalmia, Lenz type 2504 - maxillary 58220 Microscopic colitis hypoplasia - brachydacty 99142 Microcephaly - cutis verticis gyrata - lymphedema 727 Microscopic polyangiitis 1838 Metaphyseal dysplasia without hypotrichosis 2533 Microcephaly - deafness - intellectual 2551 Microspherophakia - metaphyseal dysplasia deficit 85188 Metaphyseal dysplasia, Braun-Tinschert 2552 Microsporidiosis type 137653 Microcephaly - digital anomalies - intellectual deficit 83463 Microtia 213531 Metaplastic carcinoma of the breast 217026 Microcephaly - facio-cardio-skeletal 139450 Microtia - eye coloboma - imperforation of 95504 Metastatic pituitary hormone deficiency syndrome, Hadziselimovic type the nasolacrimal duct 99866 Metastatic spermatocytic seminoma 2172 Microcephaly - glomerulonephritis - 289522 Microtriplication 11q24.1 2635 Metatropic dysplasia type 1 marfanoid habitus 2290 Microvillous inclusion disease 31825 Methanol poisoning 137658 Microcephaly - intellectual deficit - 166430 Micturation-induced seizures phalangeal and neurological anomalies 1923 Methimazole embryofetopathy 2556 MIDAS syndrome 2526 Microcephaly - lymphedema - 90070 Methotrexate toxicity chorioretinopathy 228299 Mid-dermal elastolysis 86904 Methotrexate-associated 171703 Microcephaly - polymicrogyria - corpus 100084 Middle ear endocrine tumor lymphoproliferative disorders callosum agenesis 141288 Midline cervical cleft 2169 Methylcobalamin deficiency type cblE 228418 Microcephaly - seizures - developmental 93926 Midline interhemispheric variant of 2170 Methylcobalamin deficiency type cblG delay holoprosencephaly 2557 Mietens syndrome

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 35 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 2558 Mikati-Najjar-Sahli syndrome 252021 Mixed germ cell tumor of the central 1706 trisomy 15 nervous system 79078 Mikulicz disease 1708 Mosaic 90036 Mixed-type autoimmune hemolytic anemia 169808 Mild hemophilia A 1711 Mosaic trisomy 17 45448 Miyoshi myopathy 169799 Mild hemophilia B 1723 Mosaic trisomy 2 3434 MMEP syndrome 79651 Mild hyperphenylalaninemia 1724 Mosaic trisomy 20 2560 Möbius syndrome - axonal neuropathy - 171439 Mild nemaline myopathy 96068 Mosaic hypogonadotropic hypogonadism 79253 Mild phenylketonuria 100071 Mosaic trisomy 3 90056 Moderate and severe traumatic brain injury 93279 Mild spondyloepiphyseal dysplasia due 96059 Mosaic trisomy 4 178145 Moderate multiminicore disease with hand to COL2A1 mutation with early-onset involvement 96060 Mosaic trisomy 5 osteoarthritis 169805 Moderately severe hemophilia A 1747 Mosaic trisomy 7 531 Miller-Dieker syndrome 169796 Moderately severe hemophilia B 96061 Mosaic 98919 Miller-Fisher syndrome 263335 Moderately-differentiated thymic 99776 Mosaic 94091 Mills syndrome neuroendocrine carcinoma 1052 Mosaic variegated syndrome 79452 Milroy disease 552 MODY syndrome 254516 Motor developmental delay due to 14q32.2 98832 Minimally differentiated acute myeloblastic 570 Moebius syndrome paternally expressed gene defect leukemia 52368 Mohr-Tranebjaerg syndrome 2152 Mowat-Wilson syndrome 3004 Mirror polydactyly - vertebral segmentation - limbs defects 2563 MOMO syndrome 261552 Mowat-Wilson syndrome due to a point mutation 293822 MITF-related melanoma and renal cell 573 carcinoma predisposition syndrome 261537 Mowat-Wilson syndrome due to monosomy 3057 Monoamine oxidase-A deficiency 2q22 35698 Mitochondrial DNA depletion syndrome 91136 Monoclonal Ig light chain-associated 2573 Moyamoya disease 1933 Mitochondrial DNA depletion syndrome, Fanconi syndrome encephalomyopathic form with 280679 Moyamoya disease - short stature - 228423 Monocytopenia with susceptibility to methylmalonic aciduria facial dysmorphism - hypergonadotropic infections hypogonadism 255235 Mitochondrial DNA depletion syndrome, 65684 Monomelic amyotrophy encephalomyopathic form with renal 2574 Moynahan syndrome 2565 Mononen-Karnes-Senac syndrome 263347 MRCS syndrome 1587 Monosomy 13q14 254871 Mitochondrial DNA depletion syndrome, 100024 Mu heavy-chain disease hepatocerebral form 96168 Monosomy 13q34 575 Muckle-Wells syndrome 279934 Mitochondrial DNA depletion syndrome, 1598 Monosomy 18p hepatocerebral form due to DGUOK 2451 Mucocutaneous venous malformations 1600 Monosomy 18q deficiency 576 Mucolipidosis type 2 1606 Monosomy 1p36 254875 Mitochondrial DNA depletion syndrome, 577 Mucolipidosis type 3 myopathic form 574 Monosomy 21 578 Mucolipidosis type 4 1194 Mitochondrial encephalo-cardio-myopathy 96123 Monosomy 22 due to TMEM70 deficiency 579 type 1 567 Monosomy 22q11 2597 Mitochondrial myopathy - lactic acidosis 580 Mucopolysaccharidosis type 2 48652 Monosomy 22q13 2598 Mitochondrial myopathy and sideroblastic 217085 Mucopolysaccharidosis type 2A 281 Monosomy 5p anemia 217093 Mucopolysaccharidosis type 2B 261112 Monosomy 9p 254864 Mitochondrial myopathy with reversible 581 Mucopolysaccharidosis type 3 cytochrome C oxidase deficiency 77301 Monosomy 9q22.3 582 Mucopolysaccharidosis type 4 298 Mitochondrial neurogastrointestinal 99226 Monosomy X encephalomyopathy 583 Mucopolysaccharidosis type 6 261476 Monosomy Xp21 90641 Mitochondrial nonsyndromic sensorineural 276212 Mucopolysaccharidosis type 6, rapidly deafness 93277 Monostotic fibrous dysplasia progressing 168609 Mitochondrial nonsyndromic sensorineural 2569 Moore-Federman syndrome 276223 Mucopolysaccharidosis type 6, slowly progressing deafness with susceptibility to 77296 Morgagni-Stewart-Morel syndrome aminoglycoside exposure 584 Mucopolysaccharidosis type 7 75858 MORM syndrome 746 Mitochondrial trifunctional protein 46486 Mucous membrane pemphigoid 35737 Morning glory syndrome deficiency 53271 2570 Morse-Rawnsley-Sargent syndrome 1205 Mitral atresia 587 Muir-Torre syndrome 83467 Morvan syndrome 99062 Mitral valve agenesis 2576 MULIBREY nanism 99228 Mosaic monosomy X 98844 Mixed cellularity classical Hodgkin 73217 Mullerian aplasia lymphoma 1692 Mosaic trisomy 1 1655 Mullerian derivatives - lymphangiectasia - 809 Mixed connective tissue disease 96063 Mosaic trisomy 10 polydactyly 91138 Mixed cryoglobulinemia 1698 Mosaic trisomy 12 2491 Mullerian duct anomalies - limb anomalies 180234 Mixed germ cell tumor 1703 Mosaic trisomy 14

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 36 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 2774 Multicentric carpo-tarsal osteolysis with or 3151 Multiple sclerosis - ichthyosis - factor VIII 2601 Myopathy - growth delay - intellectual without nephropathy deficiency deficit - hypospadias 93686 Multicentric Castleman disease 585 Multiple sulfatase deficiency 2596 Myopathy and diabetes mellitus 139436 Multicentric reticulohistiocytosis 3237 Multiple synostoses syndrome 88635 Myopathy due to calsequestrin and SERCA1 protein overload 1851 Multicystic renal dysplasia 99156 Multiple syringomas 97234 Myopathy due to phosphoglycerate mutase 641 Multifocal motor neuropathy with 102 Multiple system atrophy deficiency conduction block 227510 Multiple system atrophy, cerebellar type 171889 Myopathy with hexagonally cross-linked 2033 Multifocal muscular fibrosis - obstructed 98933 Multiple system atrophy, parkinsonian tubular arrays vessels type 289685 Myopericytoma 99003 Multifocal pattern dystrophy simulating 99096 Multiple ventricular septal defects fundus flavimaculatus 368 Myophosphorylase deficiency 2578 MURCS association 97366 Multiloculated 178493 Myopic 83315 Murine typhus 598 Multiminicore myopathy 289380 Myosclerosis 588 Muscle eye brain disease 2091 Multinodular goiter - cystic kidney - 275534 Myostatin-related muscle hypertrophy polydactyly 171445 Muscle filaminopathy 98911 Myotilin-related myofibrillar myopathy 2505 Multiple benign circumferential skin 371 Muscle phosphofructokinase deficiency without spheroid body creases on limbs 2579 Muscular atrophy - ataxia - retinitis 99734 Myotonia fluctuans 148 Multiple carboxylase deficiency pigmentosa - diabetes mellitus 99735 Myotonia permanens 280633 Multiple congenital anomalies - hypotonia 1877 Muscular dystrophy - white matter 54238 type 3 - seizures syndrome spongiosis 79105 Myxofibrosarcoma 254519 Multiple congenital anomalies due to 199340 Muscular dystrophy, Selcen type 99967 14q32.2 maternally expressed gene defect 2349 Muscular pseudohypertrophy - 300496 Multiple congenital anomalies-hypotonia- hypothyroidism 251643 Myxopapillary ependymoma seizures syndrome type 2 247798 MUTYH-related attenuated familial 2608 N syndrome adenomatous polyposis 652 Multiple endocrine neoplasia type 1 69087 Naegeli-Franceschetti-Jadassohn syndrome 2582 Myalgia-eosinophilia syndrome associated 653 Multiple endocrine neoplasia type 2 2613 Nail patella-like - renal disease with 247698 Multiple endocrine neoplasia type 2A 2614 Nail-patella syndrome 589 Myasthenia gravis 247709 Multiple endocrine neoplasia type 2B 2615 Nakajo-Nishimura syndrome 2583 Mycetoma 276152 Multiple endocrine neoplasia type 4 247868 NALP12-associated hereditary periodic 268249 Mycophenolate mofetil embryopathy 251 Multiple epiphyseal dysplasia fever syndrome 83482 Mycoplasma encephalitis 166002 Multiple epiphyseal dysplasia due to 627 Nance-Horan syndrome 268813 Myelocystocele collagen 9 anomaly 35612 Nanophthalmia 86841 associated with 93308 Multiple epiphyseal dysplasia type 1 83465 Narcolepsy without cataplexy isolated del(5q) 93307 Multiple epiphyseal dysplasia type 4 2073 Narcolepsy-cataplexy 52688 Myelodysplastic syndromes 93311 Multiple epiphyseal dysplasia type 5 644 NARP syndrome 824 Myelofibrosis with myeloid metaplasia 166024 Multiple epiphyseal dysplasia, Al-Gazali 141103 Nasal dermoid cyst type 168953 Myeloid neoplasm associated with FGFR1 rearrangement 141219 Nasal dorsum fistula/cyst 166011 Multiple epiphyseal dysplasia, Beighton type 168947 Myeloid neoplasm associated with PDGFRA 141118 Nasal encephalocele rearrangement 166016 Multiple epiphyseal dysplasia, Lowry type 141115 Nasal ganglioglioma 168950 Myeloid neoplasm associated with PDGFRB 93313 Multiple epiphyseal dysplasia, unclassified 141112 Nasal glial heterotopia rearrangement type 141083 Nasolacrimal duct cyst 86850 Myeloid sarcoma 166032 Multiple epiphyseal dysplasia, with 2399 Nasopalpebral lipoma - coloboma - miniepiphyses 2587 Myeloperoxidase deficiency telecanthus 166029 Multiple epiphyseal dysplasia, with severe 2588 Myhre syndrome 150 Nasopharyngeal carcinoma proximal femoral dysplasia 75110 Myiasis 141107 Nasopharyngeal teratoma 2300 Multiple intestinal atresia 36899 Myoclonic dystonia 1654 Natal teeth - intestinal pseudoobstruction 65748 Multiple keratoacanthoma, Ferguson- 210566 Myoclonic dystonia 15 - patent ductus Smith type 86913 Myoclonic epilepsy in non-progressive 2663 Nathalie syndrome 29073 168572 Native American myopathy 2029 Multiple non-ossifying fibromatosis 86909 Myoclonic epilepsy of infancy 255229 Navajo neurohepatopathy 321 Multiple 2589 Myoclonus - cerebellar ataxia - deafness 34217 Naxos disease 79446 Multiple pterygium syndrome, Aslan type 593 Myofibrillar myopathy 158011 Necrobiotic xanthogranuloma 79447 Multiple pterygium syndrome, X-linked 104077 Myopathic intestinal pseudoobstruction 199244 Nelson syndrome

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 37 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 607 Nemaline myopathy 33445 Neuroectodermal melanolysosomal disease 1390 Night blindness - skeletal anomalies - dysmorphism 217563 Neonatal acute respiratory distress with 2316 Neuroectodermal syndrome, Johnson type surfactant metabolism deficiency 647 Nijmegen breakage syndrome 2676 Neuroectodermal-endocrine syndrome 44 Neonatal 240760 Nijmegen breakage syndrome-like disorder 217560 Neuroendocrine cell hyperplasia of infancy 137929 Neonatal brainstem dysfunction 99825 Nipah fever 2677 Neuroepithelioma 79118 Neonatal diabetes - congenital 263665 NK-cell enteropathy 2673 Neurofaciodigitorenal syndrome hypothyroidism - congenital glaucoma - 31204 Nocardiosis hepatic fibrosis - polycystic kidneys 157846 Neuroferritinopathy 98784 Nocturnal frontal lobe epilepsy 224 Neonatal diabetes mellitus 252183 86867 Nodal marginal zone B-cell lymphoma 289857 Neonatal glycine encephalopathy 68388 Neurofibromatosis 137810 Nodular cutaneous amyloidosis 446 Neonatal hemochromatosis 638 Neurofibromatosis - 90393 Nodular lichen myxedematosus 137577 Neonatal hypoxic and ischemic brain injury 636 Neurofibromatosis type 1 86893 Nodular lymphocyte predominant Hodgkin 294023 Neonatal inflammatory skin and bowel 637 Neurofibromatosis type 2 lymphoma disease 93921 Neurofibromatosis type 3 2149 Nodular neuronal heterotopia 247598 Neonatal intrahepatic cholestasis due to 2678 Neurofibromatosis type 6 citrin deficiency 33577 Nodular non-suppurative panniculitis 1143 Neurogenic arthrogryposis multiplex 48372 Nodular regenerative hyperplasia of the 238688 Neonatal iodine exposure congenita liver 284979 Neonatal Marfan syndrome 94093 Neuroleptic malignant syndrome 98843 Nodular sclerosis classical Hodgkin 97668 Neonatal membranous glomerulopathy 163746 Neurologic Waardenburg-Shah syndrome lymphoma with maternal NEP deficiency 137754 Neurological conditions associated with 158772 Nodular 491 Neonatal aminoacylase 1 deficiency 85196 Nodulosis-arthropathy-osteolysis 417 Neonatal severe primary 206586 Neurolymphomatosis syndrome hyperparathyroidism 71211 Neuromyelitis optica 2700 94058 Neovascular glaucoma 216 Neuronal ceroid lipofuscinosis 79450 Non hereditary congenital primary 654 Nephroblastoma 99811 Neuronal intestinal pseudoobstruction lymphedema 223 Nephrogenic diabetes insipidus 2289 Neuronal intranuclear inclusion disease 90185 Non hereditary late-onset primary 3145 Nephrogenic diabetes insipidus - lymphedema intracranial calcification 139512 Neuropathy with hearing impairment 101106 Non secreting chemodectoma 93606 Nephrogenic syndrome of inappropriate 3228 Neurosensory deafness - pituitary dwarfism 94080 Non secreting paraganglioma antidiuresis 137596 Neurotrophic keratopathy 467 Nonacquired combined pituitary hormone 137617 Nephrogenic systemic fibrosis 165 Neutral storage disease deficiency 2668 Nephropathy - deafness - 98908 Neutral lipid storage myopathy 231720 Nonacquired combined pituitary hormone hyperparathyroidism 2690 Neutropenia - monocytopenia - deafness deficiency with spine abnormalities 2669 - deafness - urinary tract - 30925 Non-acquired isolated central diabetes digital malformations 183707 Neutrophil immunodeficiency syndrome insipidus 300333 Nephrotic syndrome-deafness-pretibial 624 Nevi flammei 631 Nonacquired isolated growth hormone epidermolysis bullosa syndrome 2691 Nevo syndrome deficiency 280576 Nestor-Guillermo progeria syndrome 64754 Nevus comedonicus syndrome 97566 Nonamyloid fibrillary glomerulopathy 634 263432 Nevus of Ito 86861 Non-amyloid monoclonal immunoglobulin 2672 Neuhauser-Eichner-Opitz syndrome 263425 Nevus of Ota deposition disease 99078 Neuhauser's anomaly 645 Niemann-Pick disease 95698 Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2671 Neu-Laxova syndrome 77292 Niemann-Pick disease type A 1581 Non-distal monosomy 10q 268865 Neurenteric cyst 77293 Niemann-Pick disease type B 96160 Non-distal monosomy 12q 2675 Neuroaxonal dystrophy - renal tubular 646 Niemann-Pick disease type C acidosis 96164 Non-distal monosomy 20q 216986 Niemann-Pick disease type C, adult 101187 Neuroaxonal dystrophy, Schindler type neurologic onset 96136 Non-distal monosomy 7p 635 Neuroblastoma 216981 Niemann-Pick disease type C, juvenile 1695 Non-distal trisomy 10q 2481 Neurocutaneous melanocytosis neurologic onset 1699 Non-distal trisomy 12p 88639 Neurodegeneration due to 216978 Niemann-Pick disease type C, late infantile 1702 Non-distal trisomy 13q 3-hydroxyisobutyryl-CoA hydrolase neurologic onset 96112 Non-distal trisomy 9q deficiency 216975 Niemann-Pick disease type C, severe early 2972 Noneruption of teeth - maxillary 289560 Neurodegeneration with brain iron infantile neurologic onset hypoplasia - accumulation due to C19orf12 mutation 216972 Niemann-Pick disease type C, severe 217629 Non-familial dilated cardiomyopathy 217382 Neurodegenerative syndrome due to perinatal cerebral folate transport deficiency 99022 Niemann-Pick disease type E 217598 Non-familial hypertrophic cardiomyopathy

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 38 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 217720 Non-familial restrictive cardiomyopathy 2711 Oculo digital syndrome 93293 Okihiro syndrome 289356 Non-gestational ovarian choriocarcinoma 157962 Oculoauricular syndrome, Schorderet type 261638 Okihiro syndrome due to 20q13 microdeletion 163924 Non-herpetic acute limbic encephalitis 141132 Oculo-auriculo-vertebral spectrum 261647 Okihiro syndrome due to a point mutation 90061 Non-infectious uveitis affecting the 2549 Oculoauriculovertebral spectrum with posterior segment of the eye radial defects 85410 Oligoarticular juvenile arthritis 141179 Non-involuting congenital hemangioma 2705 Oculocerebral dysplasia 247839 Oligoarticular juvenile arthritis with anti- nuclear antibodies 99790 Nonopalescent opalescent dentin 2719 Oculocerebral hypopigmentation syndrome, Cross type 247846 Oligoarticular juvenile arthritis without 209989 Non-papillary transitional cell carcinoma anti-nuclear antibodies of the bladder 2720 Oculocerebral hypopigmentation syndrome, Preus type 251656 Oligoastrocytoma 99817 Nonpolyposis Turcot syndrome 2706 Oculo-cerebro-acral syndrome 75378 Oligocone trichromacy 99648 Non-progressive congenital heart block 1647 Oculocerebrocutaneous syndrome 46484 Oligodendroglial tumor 176 Non-rhizomelic chondrodysplasia punctata 2707 Oculocerebrofacial syndrome, Kaufman 251627 Oligodendroglioma 91349 Non-secreting type 99798 Oligodontia 91364 Nonspecific interstitial pneumonia 2708 Oculo-cerebro-osseous syndrome 300576 Oligodontia - cancer predisposition 90031 Nonspherocytic hemolytic anemia due to 534 Oculocerebrorenal syndrome syndrome 55 2260 Oligomeganephronia 648 Noonan syndrome 79431 Oculocutaneous albinism type 1A 2920 Oliver syndrome 2701 Noonan-like syndrome with loose anagen hair 79434 Oculocutaneous albinism type 1B 2732 Olivopontocerebellar atrophy - deafness 680 Normokalemic periodic paralysis 79432 Oculocutaneous albinism type 2 659 Olmsted syndrome 432 Normosmic congenital hypogonadotropic 79433 Oculocutaneous albinism type 3 39041 Omenn syndrome hypogonadism 79435 Oculocutaneous albinism type 4 2733 Omodysplasia 649 Norrie disease 2709 Oculodental syndrome, Rutherfurd type 660 Omphalocele 75327 North Carolina macular dystrophy 2710 Oculodentodigital dysplasia 3164 Omphalocele syndrome, Shprintzen- 77304 Not NOTCH3-related small vessel disease of Goldberg type 99674 Oculodentodigital syndrome type 2 the brain 490 Omphalomesenteric cyst 2712 Oculofaciocardiodental syndrome 3032 NPHP3-related Meckel-like syndrome 2737 Onchocerciasis 1876 Oculogastrointestinal muscular dystrophy 98991 Nuclear cataract 661 Ondine syndrome 1794 Oculomaxillofacial dysostosis 280234 Null syndrome 300504 Onychocytic matricoma 2713 Oculoosteocutaneous syndrome 88643 Obesity - colitis - hypothyroidism - cardiac 300512 Onychomatricoma hypertrophy - developmental delay 99806 Oculootodental syndrome 2739 Onycho-tricho-dysplasia - neutropenia 217031 Obesity due MC3R deficiency 77302 Oculo-oto-facial dysplasia 268363 Open iniencephaly 66628 Obesity due to congenital leptin deficiency 2714 Oculo-palato-cerebral syndrome 2741 Ophthalmomandibulomelic dysplasia 179494 Obesity due to leptin receptor gene 270 Oculopharyngeal muscular dystrophy 2743 Ophthalmoplegia - intellectual deficit - deficiency 98897 Oculopharyngodistal myopathy lingua scrotalis 71529 Obesity due to melanocortin-4 receptor 2715 Oculo-reno-cerebellar syndrome deficiency 2742 Ophthalmoplegia - myalgia - tubular 2716 Oculo-skeletal-renal syndrome aggregates 71528 Obesity due to prohormone convertase-I deficiency 2717 Oculotrichoanal syndrome 2745 Opitz BBB/G syndrome 71526 Obesity due to pro-opiomelanocortin 2718 Oculotrichodysplasia 2746 deficiency 247685 Odontohypophosphatasia 1183 Opsoclonus-myoclonus syndrome 99704 Obesity, hyperphagia, and severe 77295 Odontoleukodystrophy 2086 Optic pathway glioma developmental delay due toTrkB gene deficiency 2724 Odontomatosis - aortae esophagus 31142 Oral erosive lichen stenosis 268823 Occipital encephalocele 2750 Oral-facial-digital syndrome type 1 1811 Odontomicronychial dysplasia 198 2756 Oral-facial-digital syndrome type 10 2722 Odonto-onycho dysplasia - alopecia 280640 Occipital and polymicrogyria 141000 Oral-facial-digital syndrome type 11 2721 Odonto-onycho-dermal dysplasia 247834 Occult macular dystrophy 141327 Oral-facial-digital syndrome type 12 3391 Odonto-onycho-hypohidrotic dysplasia - 2751 Oral-facial-digital syndrome type 2 99909 Occupational allergic alveolitis midline scalp defects 2752 Oral-facial-digital syndrome type 3 2704 Ochoa syndrome 2723 Odontotrichomelic syndrome 2753 Oral-facial-digital syndrome type 4 1000 - late-onset sensorineural 69082 Odonto-tricho-ungual-digito-palmar deafness syndrome 2919 Oral-facial-digital syndrome type 5 1125 Ocular motor apraxia, Cogan type 75382 90649 Oral-facial-digital syndrome type 7 99922 Ocular pemphigoid 2729 Okamoto syndrome 2755 Oral-facial-digital syndrome type 8

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 39 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 141007 Oral-facial-digital syndrome type 9 2791 Otodental syndrome 28455 Pancreatic beta cell agenesis with neonatal diabetes mellitus 52994 Orbital 2792 Otofaciocervical syndrome 217074 Pancreatic carcinoma 96369 Organic early-onset schizophrenia 2793 Oto-onycho-peroneal syndrome 97253 Pancreatic endocrine tumor 166421 Orgasm-induced seizures 669 Otopalatodigital syndrome 2255 Pancreatic hypoplasia - diabetes - heart 664 transcarbamylase deficiency 90650 Otopalatodigital syndrome type 1 disease 141330 Orofaciodigital syndrome type 13 90652 Otopalatodigital syndrome type 2 199337 Pancreatic insufficiency - anemia - 93958 Oromandibular dystonia 1427 Otospondylomegaepiphyseal dysplasia hyperostosis 2749 Oro-mandibular-limb hypogenesis 213504 Ovarian adenocarcinoma 677 syndrome 35807 Ovarian germ cell malignant tumor 66624 PANDAS 64692 Oroya fever 206484 Ovarian gonadoblastoma 95513 Panhypophysitis 97335 Osgood-Schlatter disease 64739 Ovarian hyperstimulation syndrome 90695 Panhypopituitarism 2760 OSLAM syndrome 99916 Ovarian malignant Sertoli-Leydig cell 97336 Panner disease 73230 Ossification anomalies - psychomotor tumor 90159 Panniculitis and localized lipodystrophy development delay 35808 Ovarian malignant tumor of sex cord- 157850 Pantothenate-kinase-associated 58040 Osteoblastoma stromal origin neurodegeneration 2054 Osteochondritis of tarsal/metatarsal bone 99853 Ovarioleukodystrophy 213817 Papillary carcinoma of the cervix uteri 2653 Osteochondrodysplatic nanism - deafness - 2096 Overgrowth - craniosynostosis - 213726 Papillary carcinoma of the corpus uteri retinitis pigmentosa arthrogryposis 208600 Papillary fibroelastoma of the heart 2763 Osteocraniostenosis 137634 Overgrowth - macrocephaly - facial dysmorphism 251962 Papillary glioneuronal tumor 2484 Osteodysplasty, Melnick-Needles type 3203 Overhydrated hereditary stomatocytosis 146 Papillary or follicular thyroid carcinoma 666 Osteogenesis imperfecta 206572 Overlap myositis 97290 Papillary thyroid carcinoma with renal 2773 Osteogenesis imperfecta - retinopathy - papillary neoplasia seizures - intellectual deficit 2138 Ovotesticular disorder of sex development 251915 Papillary tumour of the pineal region 91134 Osteogenesis imperfecta - shortened long 31 Oxoglutaricaciduria bones - white sclerae 2807 Papilloma of choroid plexus 36355 P2Y12 deficiency 216796 Osteogenesis imperfecta type 1 678 Papillon-Lefèvre syndrome 2796 216804 Osteogenesis imperfecta type 2 228264 Papular elastorrhexis 94084 Pachygyria - epilepsy - intellectual deficit 216812 Osteogenesis imperfecta type 3 - dysmorphism 90395 Papular mucinosis of infancy 216820 Osteogenesis imperfecta type 4 2798 Pachygyria - intellectual deficit - epilepsy 158008 Papular xanthoma 216828 Osteogenesis imperfecta type 5 2309 99056 Parachute tricuspid valve 2645 Osteoglophonic dwarfism 1952 Pacman dysplasia 73260 Paracoccidioidomycosis 2777 Osteomesopyknosis 180275 Paget's disease of the nipple 141242 Paramedian nasal cleft 2780 Osteopathia striata - cranial sclerosis 991 PAGOD syndrome 684 Paramyotonia congenita of Von Eulenburg 2779 Osteopathia striata - pigmentary 1993 Pai syndrome 2812 Parana hard-skin syndrome dermopathy - white forelock 300501 Painful orbital and systemic - 63455 Paraneoplastic pemphigus 91133 Osteopenia - myopia - hearing loss - marfanoid habitus syndrome 231445 Paraparetic variant of Guillain-Barré intellectual deficit - facial dysmorphism 672 Pallister-Hall syndrome syndrome 178389 Osteopetrosis - hypogammaglobulinemia 86922 Palmoplantar keratoderma - amyotrophy 2823 Paraplegia - brachydactyly - cone-shaped 2785 Osteopetrosis with renal tubular acidosis 2202 Palmoplantar keratoderma - deafness 2787 Osteoporosis - macrocephaly - blindness - 2824 Paraplegia - intellectual deficit - 384 Palmoplantar keratoderma - joint hyperlaxity hyperkeratosis 2201 Palmoplantar keratoderma - spastic 2788 Osteoporosis - pseudoglioma 31827 Paraquat poisoning paralysis 2786 Osteoporosis-oculocutaneous- 2646 Parastremmatic dwarfism 85112 Palmoplantar keratoderma - XX sex hypopigmentation syndrome reversal - predisposition to squamous cell 143 Parathyroid carcinoma 668 Osteosarcoma carcinoma 2825 PARC syndrome 178377 Osteosclerosis - developmental delay - 89833 Palmoplantar keratoderma with 268826 Parietal encephalocele craniosynostosis tonotubular 60015 Parietal foramina 75325 Osteosclerosis - ichthyosis - premature 2200 Palmoplantar keratosis, focal and gingival ovarian failure 251290 Parietal foramina with cleidocranial 736 Palmoplantar porokeratosis of Mantoux dysplasia 99965 O'Sullivan-McLeod syndrome 79501 Palmoplantar punctate keratoderma type 1 851 Paris-Trousseau thrombocytopenia 166457 Other forms of non-paraneoplastic limbic 79502 Palmoplantar punctate keratoderma type 2 encephalitis 90307 93292 Pancreatic adenoma 206606 Other and/or chronic 171695 Parkinsonian-pyramidal syndrome muscle pain 97355 Parkinsonism with dementia of Guadeloupe

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 40 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 90035 Paroxysmal cold hemoglobinuria 2439 Patterson-Stevenson-Fontaine syndrome 58208 Pericarditis 1431 Paroxysmal dyskinesia 93126 Pauci-immune glomerulonephritis 247623 Perinatal lethal hypophosphatasia 98811 Paroxysmal exertion-induced dyskinesia 97563 Pauci-immune glomerulonephritis with 85102 Perineurioma ANCA 46348 Paroxysmal extreme pain disorder 139426 Perioral myoclonia with absences 97564 Pauci-immune glomerulonephritis without 157835 Paroxysmal hemicrania 563 Peripartum cardiomyopathy ANCA 98812 Paroxysmal hypnogenic dyskinesia 1795 Peripheral dysostosis 699 Pearson syndrome 98809 Paroxysmal kinesigenic dyskinesia 2400 Peripheral motor neuropathy - 2835 - macrocephaly - dysautonomia 447 Paroxysmal nocturnal hemoglobinuria dysplastic nails 171848 Peripheral neuropathy, Fiskerstrand type 98810 Paroxysmal non-kinesigenic dyskinesia 93565 Pediatric Behcet disease 178040 Peripheral precocious puberty 2901 Parsonage- 93682 Pediatric Castleman disease 97927 Peripheral resistance to thyroid 79087 Partial acquired lipodystrophy 93564 Pediatric polyarteritis nodosa 168816 Peritoneal cystic mesothelioma 90797 Partial androgen insensitivity syndrome 93566 Pediatric Sjögren syndrome 90063 Peritumoral edema derived from brain 1330 Partial atrioventricular canal 93552 Pediatric systemic lupus erythematosus tumors 1646 Partial chromosome Y deletion 93567 Pediatric systemic sclerosis 171676 Periventricular leukomalacia 98992 Partial congenital cataract 817 Peeling skin syndrome 98892 Periventricular nodular heterotopia 98950 Partial cryptophthalmia 2836 PEHO syndrome 2849 90076 Partial deep dermal and full thickness 99807 PEHO-like syndrome 99885 Permanent neonatal diabetes mellitus burns 702 Pelizaeus-Merzbacher disease 65288 Permanent neonatal diabetes mellitus - 79312 Partial deficiency of methylmalonyl-CoA 280229 Pelizaeus-Merzbacher disease in female pancreatic and cerebellar agenesis mutase carriers 2971 Peroxisomal acyl-CoA oxidase deficiency 2805 Partial pancreas agenesis 280219 Pelizaeus-Merzbacher disease, classic form 2855 Perrault syndrome 93178 Partial prune belly syndrome 280210 Pelizaeus-Merzbacher disease, connatal 178509 Perry syndrome 94083 Partington syndrome form 99120 Persistent eustachian valve 2829 Partington-Anderson syndrome 280224 Pelizaeus-Merzbacher disease, transitional 99076 Persistent fifth aortic arch 86789 Patella aplasia/hypoplasia form 91495 Persistent hyperplastic primary vitreous 295041 Patella aplasia/hypoplasia, bilateral 280293 Pelizaeus-Merzbacher-like due to AIMP1 mutation 99109 Persistent left superior vena cava 295038 Patella aplasia/hypoplasia, unilateral 280282 Pelizaeus-Merzbacher-like due to GJC2 connecting to the left-sided atrium 706 Patent arterial duct mutation 2856 Persistent Mullerian duct syndrome 228190 Patent ductus arteriosus - bicuspid aortic 280288 Pelizaeus-Merzbacher-like due to HSPD1 97341 Persistent placoid maculopathy valve - hand anomalies mutation 300324 Persistent polyclonal B-cell lymphocytosis 99108 Patent foramen ovale 280296 Pelizaeus-Merzbacher-like due to SLC16A2 708 Peters anomaly 254531 Paternal 14q32.2 hypomethylation mutation syndrome 97352 101033 Peters anomaly - cataract 254525 Paternal 14q32.2 microdeletion syndrome 2837 Pellagra-like skin rash - neurological 709 Peters-plus syndrome 261304 Paternal 20q13.2q13.3 microdeletion manifestations 2869 Peutz-Jeghers syndrome syndrome 137672 Pellucid marginal degeneration 710 251004 Paternal uniparental disomy of 2840 Pelvic dysplasia - arthrogryposis of lower 93258 Pfeiffer syndrome type 1 chromosome 1 limbs 93259 Pfeiffer syndrome type 2 99324 Paternal uniparental disomy of 83628 syndrome chromosome 13 93260 Pfeiffer syndrome type 3 93333 Pelviscapular dysplasia 96334 Paternal uniparental disomy of 2871 Pfeiffer-Palm-Teller syndrome 2839 Pelvis-shoulder dysplasia chromosome 14 42775 PHACE syndrome 63275 Pemphigoid gestationis 96194 Paternal uniparental disomy of 209959 Phako-anaphylactic uveitis chromosome 20 79480 Pemphigus erythematosus 79483 cesioflammea 96195 Paternal uniparental disomy of 79481 Pemphigus foliaceus chromosome 21 79484 Phakomatosis cesiomarmorata 79479 Pemphigus vegetans 96190 Paternal uniparental disomy of 2874 Phakomatosis pigmentokeratotica 704 Pemphigus vulgaris 2875 Phakomatosis pigmentovascularis 705 96191 Paternal uniparental disomy of 79485 Phakomatosis spilorosea chromosome 6 49 agenesis 231426 Pharyngeal-cervical-brachial variant of 96192 Paternal uniparental disomy of 2842 Penoscrotal transposition Guillain-Barré syndrome 11 2876 Phaver syndrome 261524 Paternal uniparental disomy of 2843 Pentosuria chromosome X 1919 Phenobarbital embryopathy 2847 Pericardial and diaphragmatic defect

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 41 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 716 Phenylketonuria 300385 Pituitary carcinoma 295150 Polydactyly of a triphalangeal thumb, bilateral 2878 - ectrodactyly - deafness - 91354 Pituitary deficiency due to empty sella sinus turcica syndrome 295148 Polydactyly of a triphalangeal thumb, unilateral 2879 Phocomelia, Schinzel type 91350 Pituitary deficiency due to Rathke's pouch cysts 93337 Polydactyly of an 79316 Phosphoenolpyruvate carboxykinase 1 deficiency 91351 Pituitary dermoid and epidermoid cysts 295154 Polydactyly of an index finger, bilateral 79317 Phosphoenolpyruvate carboxykinase 2 95496 Pituitary stalk interruption syndrome 295152 Polydactyly of an index finger, unilateral deficiency 2897 Pityriasis rubra pilaris 295146 Polydactyly of the thumb, bilateral 2880 Phosphoenolpyruvate carboxykinase 99928 Placental site trophoblastic tumor 295144 Polydactyly of the thumb, unilateral deficiency 707 Plague 2916 Polydactyly postaxial - dental and vertebral 713 Phosphoglycerate kinase 1 deficiency anomalies 158769 Plaque-form urticaria pigmentosa 3222 Phosphoribosylpyrophosphate synthetase 2917 Polydactyly-myopia syndrome superactivity 289666 Plasmablastic lymphoma 180229 Polyembryoma 284417 Phosphoserine aminotransferase deficiency 86855 Plasmacytoma 35981 Polymicrogyria 166409 Photosensitive epilepsy 99146 Platelet function disease associated with renal insufficiency 2925 Polymicrogyria - turricephaly - 180261 Phyllode tumor hypogenitalism 85166 Platyspondylic dysplasia, Torrance type 670 PIBIDS syndrome 300573 Polymicrogyria due to TUBB2B mutation 1417 Platyspondylic lethal chondrodysplasia 2885 Piebald trait - neurologic defects 250972 Polymicrogyria with optic nerve hypoplasia 2899 Platyspondyly - amelogenesis imperfecta 2884 732 Polymyositis 99969 Pleomorphic liposarcoma 156723 Piepkorn dysplasia 2926 Polyneuropathy - hand defect 293199 Pleomorphic rhabdomyosarcoma 2888 Pierre Robin syndrome - faciodigital 2927 Polyneuropathy - hepatosplenomegaly - anomaly 293190 Pleomorphic undifferentiated sarcoma hyperpigmentation 2670 Pierson syndrome 251607 Pleomorphic xanthoastrocytoma 2928 Polyneuropathy - intellectual deficit - 99908 Pigeon-breeder's lung disease 99131 Pleuro-pericardial cyst acromicria - premature menopause 254723 Pigmented hypertrichosis with insulin 64742 639 Polyneuropathy associated with IgM dependent diabetes mellitus syndrome 284343 Pleuropulmonary blastoma family tumor monoclonal gammopathy with anti-MAG 251295 Pigmented paravenous retinochoroidal susceptibility syndrome 93276 Polyostotic fibrous dysplasia atrophy 99933 Pleuro-pulmonary blastoma type I 96321 Polyploidy 66627 Pigmented villonodular synovitis 99934 Pleuro-pulmonary blastoma type II 208981 Polyradiculoneuropathy associated with 720 Pili bifurcati 99935 Pleuro-pulmonary blastoma type III IgG/IgA/IgM monoclonal gammopathy without known antibodies 719 Pili canulati 54028 Plummer-Vinson syndrome 141091 Polyrrhinia 79492 Pili gemini 64741 Pneumoblastoma 93338 Polysyndactyly 79491 Pili multibifurcati 55655 Pneumococcal meningitis 2934 Polysyndactyly - cardiac malformation 2889 723 Pneumocystosis 2937 Polysyndactyly - microcephaly - ptosis 2891 Pili torti - developmental delay - 228019 Pneumonia caused by serotype O1 neurological abnormalities Pseudomonas Aeruginosa 295161 Polysyndactyly, bilateral 2890 Pili torti - onychodysplasia 90066 Pneumonia caused by serotype O11 295159 Polysyndactyly, unilateral 251612 Pilocytic astrocytoma Pseudomonas Aeruginosa 2936 Polysyndactyly- 2892 Pilodental dysplasia - refractive errors 2905 POEMS syndrome 228410 Polyvalvular heart disease syndrome 159780 Pilo-dento-ungular dysplasia with 221046 Poikiloderma with neutropenia 99748 Pontiac fever microcephaly 2911 269229 Pontine tegmental cap dysplasia 91414 Pilomatrixoma 2912 Poliomyelitis 2254 Pontocerebellar hypoplasia type 1 251615 Pilomyxoid astrocytoma 75790 Pollitt syndrome 2524 Pontocerebellar hypoplasia type 2 2894 Pilotto syndrome 767 Polyarteritis nodosa 97249 Pontocerebellar hypoplasia type 3 251919 Pineal parenchymal tumor of intermediate 2770 Polycystic lipomembranous osteodysplasia 166063 Pontocerebellar hypoplasia type 4 differenciation - sclerosing leukoencephalopathy 166068 Pontocerebellar hypoplasia type 5 251909 Pineoblastoma 2924 Polycystic 166073 Pontocerebellar hypoplasia type 6 251912 Pineocytoma 2795 Polycystic ovaries - urethral sphincter 284339 Pontocerebellar hypoplasia type 7 34 dysfunction 213777 Poorly differentiated endocrine carcinoma 2896 Pitt-Hopkins syndrome 729 of the cervix uteri 221150 Pitt-Hopkins-like syndrome 2914 Polydactyly alopecia seborrheic dermatitis 213731 Poorly differentiated endocrine carcinoma 251623 Pituicytoma 93339 Polydactyly of a biphalangeal thumb of the corpus uteri 95613 93336 Polydactyly of a triphalangeal thumb 263339 Poorly-differentiated thymic neuroendocrine carcinoma

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 42 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 2940 Porencephaly 70568 Post-transplant lymphoproliferative 247522 Primary ciliary dyskinesia - retinitis disease pigmentosa 2941 Porencephaly - cerebellar hypoplasia - internal malformations 99859 Post-traumatic syringomyelia 98861 Primary ciliary dyskinesia, Kartagener type 735 Porokeratosis of Mibelli 612 Potassium-aggravated myotonia 178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma 737 Porokeratosis plantaris palmaris and 52022 Potocki-Shaffer syndrome disseminata 300865 Primary cutaneous anaplastic large cell 217067 Pouchitis lymphoma 89835 Porokeratosis punctata palmaris et 97278 PPoma plantaris 541 Primary cutaneous CD30+ T-cell 739 Prader-Willi syndrome lymphoproliferative disease 166286 Porokeratotic eccrine ostial and dermal duct nevus 177910 Prader-Willi syndrome due to imprinting 178522 Primary cutaneous CD4+ small/medium- mutation sized pleomorphic T-cell lymphoma 101330 Porphyria cutanea tarda 98754 Prader-Willi syndrome due to maternal 178544 Primary cutaneous diffuse large B-cell 100924 Porphyria due to ALA dehydratase uniparental disomy of lymphoma, leg type deficiency 98793 Prader-Willi syndrome due to paternal 178540 Primary cutaneous follicle center 79473 Porphyria variegata 15q11q13 deletion lymphoma 854 Portal vein 177901 Prader-Willi syndrome due to paternal 178533 Primary cutaneous gamma/delta-positive 2703 Port-wine nevi - mega cisterna magna - deletion of 15q11q13 type 1 T-cell lymphoma hydrocephalus 177904 Prader-Willi syndrome due to paternal 178536 Primary cutaneous marginal zone B-cell 90071 Post transplantation graft dysfunction deletion of 15q11q13 type 2 lymphoma 246 Postaxial acrofacial dysostosis 177907 Prader-Willi syndrome due to translocation 86885 Primary cutaneous unspecified peripheral 2918 Postaxial polydactyly 2956 Prata-Liberal-Goncalves syndrome T-cell lymphoma 93335 Postaxial polydactyly type B 2922 Preaxial polydactyly 98807 Primary dystonia, DYT13 type 295008 Postaxial polydactyly of toes 2921 Preaxial polydactyly - colobomata - 99657 Primary dystonia, DYT2 type intellectual deficit 295181 Postaxial polydactyly of toes, bilateral 98805 Primary dystonia, DYT4 type 295006 Preaxial polydactyly of toes 295179 Postaxial polydactyly of toes, unilateral 98806 Primary dystonia, DYT6 type 295177 Preaxial polydactyly of toes, bilateral 93334 Postaxial polydactyly type A 48686 Primary effusion lymphoma 295175 Preaxial polydactyly of toes, unilateral 295165 Postaxial polydactyly type A, bilateral 90026 Primary erythermalgia 99860 Precursor B-cell acute lymphoblastic 295163 Postaxial polydactyly type A, unilateral 90042 Primary familial polycythemia leukemia 295169 Postaxial polydactyly type B, bilateral 3337 Primary Fanconi syndrome 99861 Precursor T-cell acute lymphoblastic 2232 Primary hypergonadotropic hypogonadism 295167 Postaxial polydactyly type B, unilateral leukemia - partial alopecia 2730 Postaxial tetramelic 293462 Pre-Descemet corneal dystrophy 93598 Primary hyperoxaluria type 1 263352 Postcardiotomy right ventricular failure 183710 Predisposition to invasive bacterial 90023 Primary immunodeficiency syndrome due infections 97349 Postencephalitic parkinsonism to p14 deficiency 275555 Pre-eclampsia 98971 Posterior amorphous corneal dystrophy 157949 Primary immunodeficiency with skin 99141 Posterior choanal atresia - lymphedema 2860 Preeyasombat-Varavithya syndrome granulomas syndrome 216445 Prelingual nonsyndromic genetic deafness 100049 Primary interstitial lung disease specific 88628 Posterior column ataxia - retinitis 276432 Premature ageing appearance- to childhood due to pulmonary surfactant pigmentosa developmental delay-cardiac arrhythmia protein anomalies 54247 Posterior cortical atrophy syndrome 90362 Primary intestinal lymphangiectasia 99662 Posterior fossa tumors 52183 Premature chromosome condensation with 279904 Primary intraocular lymphoma microcephaly and intellectual deficit 2064 Posterior fusion of lumbosacral vertebrae 140436 Primary intraosseous 95486 Premature closure of the arterial duct - blepharoptosis 137926 Primary laryngeal lymphangioma 247638 Prenatal benign hypophosphatasia 268810 Posterior meningocele 35689 Primary lateral sclerosis 90160 Pressure-induced localized lipoatrophy 98993 Posterior polar cataract 98838 Primary mediastinal large B-cell lymphoma 98914 Presynaptic congenital myasthenic 98973 Posterior polymorphous corneal dystrophy 238642 Primary megaureter, adult-onset form syndromes 93110 Posterior urethral valve 252050 Primary melanoma of the central nervous 79410 Pretibial dystrophic epidermolysis bullosa 216452 Postlingual nonsyndromic genetic deafness system 85443 Primary amyloidosis 94060 Post-neonatal intracerebral hemorrhage 279897 Primary oculocerebral lymphoma 228272 Primary anetoderma 279947 Postorgasmic illness syndrome 238606 Primary orthostatic tremor 140989 Primary angiitis of the central nervous 99878 Primary parathyroids hyperplasia 2942 Post-poliomyelitic syndrome system 168829 Primary peritoneal carcinoma 98913 Postsynaptic congenital myasthenic 2285 Primary basilar impression syndromes 189439 Primary pigmented nodular adrenocortical 186 Primary biliary cirrhosis 163921 Post-transplant acute limbic encephalitis disease 46135 Primary central nervous system lymphoma 100021 Primary plasmacytoma of the bone 244 Primary ciliary dyskinesia

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 43 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 95432 Primary progressive aphasia 240112 Progressive supranuclear palsy - 26790 Pseudomyxoma peritonei progressive non fluent aphasia 75567 Primary progressive freezing gait 129 Pseudo-pelade of Brocq 240094 Progressive supranuclear palsy - pure 2420 Primary pulmonary lymphoma 2985 Pseudoprogeria syndrome akinesia with gait freezing 171 Primary sclerosing cholangitis 79445 Pseudopseudohypoparathyroidism 316 Progressive symmetric erythrokeratodermia 99856 Primary syringomyelia 83316 Pseudotyphus of California 2965 Prolactinoma 268871 Primary syringomyelia/hydromyelia 52530 Pseudo-Von Willebrand disease 742 2284 Primary T cell immunodeficiency 758 Pseudoxanthoma elasticum 492 Proliferating 268861 Primary tethered chord syndrome 228293 Pseudoxanthoma elasticum-like papillary 2083 Prominent glabella - microcephaly - dermal elastocytosis 231580 Primary unilateral adrenal hyperplasia hypogenitalism 280794 Pseudoxanthomatous diffuse cutaneous 46658 Primordial short stature - microdontia - 2966 mastocytosis opalescent and rootless teeth 35 2981 Pseudo- 141099 Proboscis lateralis 2967 Protein R deficiency 71519 Psychogenic movement disorders 2959 Progeria - short stature - pigmented nevi 26349 Protein S acquired deficiency 88618 Psychomotor retardation due to 99706 Progeria-associated arthropathy 744 S-adenosylhomocysteine hydrolase 300382 Progeroid and marfanoid aspect- deficiency 2969 Proteus-like syndrome - intellectual deficit lipodystrophy syndrome - eye defects 2988 Pterygium colli - intellectual deficit - 2963 Progeroid syndrome, Petty type digital anomalies 251598 Protoplasmic astrocytoma 75373 Progressive bifocal chorioretinal atrophy 2989 Pterygium of the conjunctiva, familial 606 Proximal myotonic myopathy 56965 Progressive bulbar paralysis of childhood form 3269 Proximal radioulnar synostosis 139447 Progressive cavitating 2999 Ptosis - strabismus - ectopic pupils 93607 Proximal renal tubular acidosis with ocular leukoencephalopathy 238766 Ptosis - syndactyly - learning difficulties abnormalities and intellectual deficit 247198 Progressive cerebello-cerebral atrophy 228396 Ptosis - upper ocular movement limitation 70 Proximal spinal muscular atrophy 1871 Progressive cone dystrophy - absence of lacrimal punctum 83330 Proximal spinal muscular atrophy type 1 3235 Progressive deafness with stapes fixation 2997 Ptosis - vocal cord paralysis 83418 Proximal spinal muscular atrophy type 2 217396 Progressive demyelinating neuropathy 984 Pulmonary agenesis 83419 Proximal spinal muscular atrophy type 3 with bilateral striatal necrosis 60025 Pulmonary alveolar microlithiasis 83420 Proximal spinal muscular atrophy type 4 1947 Progressive epilepsy - intellectual deficit, 1137 Pulmonary obstructive Finnish type 3250 Proximal symphalangism uropathy 172 Progressive familial intrahepatic 3390 Proximal tubulopathy - diabetes mellitus - 2038 Pulmonary arteriovenous fistula cholestasis cerebellar ataxia 99049 Pulmonary artery coming from patent 79306 Progressive familial intrahepatic 2970 Prune belly syndrome ductus arteriosus cholestasis type 1 89843 Pruriginous dystrophic epidermolysis 99050 Pulmonary artery coming from the aorta 79304 Progressive familial intrahepatic bullosa 1676 Pulmonary artery familial dilatation cholestasis type 2 64745 Pruritic urticarial papules and plaques of 99083 Pulmonary artery hypoplasia 79305 Progressive familial intrahepatic pregnancy cholestasis type 3 1208 Pulmonary atresia - intact ventricular 180079 Pseudo unicornuate uterus septum 1214 Progressive hemifacial atrophy 750 1207 Pulmonary atresia with ventricular septal 217260 Progressive multifocal 221120 Pseudoaminopterin syndrome defect leukoencephalopathy 85174 Pseudodiastrophic dysplasia 99084 Pulmonary branch stenosis 263516 Progressive myoclonic epilepsy type 3 88660 Pseudohyperaldosteronism type 2 199241 Pulmonary capillary hemangiomatosis 280620 Progressive myoclonic epilepsy type 6 756 Pseudohypoaldosteronism type 1 210136 Pulmonary fibrosis - hepatic hyperplasia - 158022 Progressive nodular histiocytosis 757 Pseudohypoaldosteronism type 2 bone marrow hypoplasia 100070 Progressive non-fluent aphasia 88938 Pseudohypoaldosteronism type 2A 217080 Pulmonary fungal infections in patients 2062 Progressive non-infectious anterior deemed at risk vertebral fusion 88939 Pseudohypoaldosteronism type 2B 217557 Pulmonary interstitial glycogenosis 2762 Progressive osseous heteroplasia 88940 Pseudohypoaldosteronism type 2C 60026 Pulmonary nodular lymphoid hyperplasia 1159 Progressive pseudorheumatoid arthropathy 300525 Pseudohypoaldosteronism type 2D 982 Pulmonary valve agenesis of childhood 300530 Pseudohypoaldosteronism type 2E 101206 Pulmonary valve agenesis - Fallot's 228012 Progressive sensorineural hearing loss - 79443 type 1A tetralogy - absence of ductus arteriosus hypertrophic cardiomyopathy 94089 Pseudohypoparathyroidism type 1B 99048 Pulmonary valve agenesis - ventricular 240103 Progressive supranuclear palsy - septal defect - persistent ductus arteriosus corticobasal syndrome 79444 Pseudohypoparathyroidism type 1C 99126 Pulmonary vein atresia 240085 Progressive supranuclear palsy - 94090 Pseudohypoparathyroidism type 2 parkinsonism 2976 Pseudoleprechaunism syndrome, Patterson 31837 Pulmonary venoocclusive disease type 99783 Pulp stones

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 44 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 99785 Pulpal dysplasia 70475 Radiation proctitis 64740 Recurrent acute pancreatitis 98984 Pulverulent cataract 99787 Radicular dentin dysplasia 90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients 99710 Punctate acrokeratoderma like 3013 Radiculomegaly of canine teeth- pigmentation congenital cataract 169142 Recurrent infection due to specific granule deficiency 441 Pure autonomic failure 3014 Radio-digito-facial dysplasia 251523 Recurrent infections - inflammatory 69084 Pure hair and nail ectodermal dysplasia 3015 Radio-renal syndrome syndrome due to zinc metabolism disorder 254854 Pure mitochondrial myopathy 71289 Radio-ulnar synostosis - amegakaryocytic 183675 Recurrent infections associated with rare thrombocytopenia 280239 Pure spastic paraplegia type 2 immunoglobulin isotypes deficiency 3270 Radioulnar synostosis - intellectual deficit 760 Purine nucleoside phosphorylase deficiency 169467 Recurrent Neisseria infections due to - hypotonia 49566 Purpura fulminans factor D deficiency 295219 Radio-ulnar synostosis, bilateral 93669 Pustulo-psoriatic hyperostotic 60032 Recurrent respiratory papillomatosis 295217 Radio-ulnar synostosis, unilateral spondylarthritis 97239 Reducing body myopathy 3016 Radius absent - anogenital anomalies 163927 Pustulosis palmaris et plantaris 310 Reflex epilepsy 3018 Rambaud-Galian syndrome 763 Pycnodysostosis 98826 Refractory anemia 3019 Ramon syndrome 293633 PYCR1-related DeBarsy syndrome 86839 Refractory anemia with excess blasts 3020 Ramsay-Hunt syndrome 3003 Pyknoachondrogenesis 168960 Refractory anemia with excess blasts in 3021 3005 Pyle disease transformation 141184 Rapidly involuting congenital hemangioma 48104 Pyoderma gangrenosum 100019 Refractory anemia with excess blasts-1 280569 Rapidly progressive glomerulonephritis 289478 Pyoderma gangrenosum - - 100020 Refractory anemia with excess blasts-2 suppurative 293987 Rapid-onset childhood obesity- 86836 Refractory cytopenia with multilineage hypothalamic dysfunction- 69126 Pyogenic arthritis - pyoderma gangrenosum dysplasia hypoventilation-autonomic dysregulation - acne 773 Refsum disease syndrome 183713 Pyogenic bacterial infections due to 99681 Regional ectodermal dysplasia with total 71517 Rapid-onset dystonia-parkinsonism MyD88 deficiency bilateral cleft 3022 Rapp-Hodgkin syndrome 764 Pyomyositis 83450 213528 Rare adenocarcinoma of the breast 79096 Pyridoxal phosphate-responsive seizures 98961 Reis-Bücklers corneal dystrophy 213574 Rare adenocarcinoma of the corpus uteri 3006 Pyridoxine-dependent epilepsy 90055 Rejection after corneal transplantation 97293 Rare benign ovarian tumor 3008 Pyruvate carboxylase deficiency 99991 Relapsing epidemic thyphus 68361 Rare deafness 765 Pyruvate dehydrogenase deficiency 91547 Relapsing fever 137820 Rare endometriosis 79243 Pyruvate dehydrogenase E1-alpha 728 Relapsing polychondritis deficiency 98619 Rare isolated myopia 2838 Renal caliceal diverticuli - deafness 255138 Pyruvate dehydrogenase E1-beta deficiency 213767 Rare squamous cell carcinoma of the cervix 217071 Renal cell carcinoma uteri 79244 Pyruvate dehydrogenase E2 deficiency 1475 Renal coloboma syndrome 268114 RAS-associated autoimmune 2394 Pyruvate dehydrogenase E3 deficiency lymphoproliferative disease 93111 Renal cysts and diabetes syndrome 255182 Pyruvate dehydrogenase E3-binding 1929 Rasmussen subacute encephalitis 93108 Renal dysplasia protein deficiency 3023 Rasmussen-Johnsen-Thomsen syndrome 1850 Renal dysplasia - megalocystis - 79246 Pyruvate dehydrogenase phosphatase deficiency 31205 Rat-bite fever 69076 Renal glucosuria 781 Q fever 99852 RAVINE syndrome 93101 Renal hypoplasia 3010 Qazi-Markouizos syndrome 29207 Reactive arthritis 71273 Renal nutcracker syndrome 220436 Quebec platelet disorder 166433 Reading seizures 171871 Renal pseudohypoaldosteronism type 1 346 Quinquaud's decalvans 1115 Recessive aplasia cutis congenita of limbs 93610 Renal tubular acidosis - anemia 770 Rabies 139373 Recessive hereditary methemoglobinemia type 1 93611 Renal tubular acidosis - deafness 769 Rabson-Mendenhall syndrome 139380 Recessive hereditary methemoglobinemia 88937 Renal tubular acidosis type 3 1121 Radial deficiency - tibial hypoplasia type 2 3033 Renal tubular dysgenesis 93321 Radial hemimelia 280384 Recessive - motor 97368 Renal tubular dysgenesis drugs-related 295071 Radial hemimelia, bilateral dysfunction - multiple joint contractures 97367 Renal tubular dysgenesis due to -twin 295069 Radial hemimelia, unilateral 94125 Recessive mitochondrial ataxic syndrome transfusion 2252 Radial hypoplasia - triphalangeal thumbs - 461 Recessive X-linked ichthyosis 97369 Renal tubular dysgenesis of genetic origin hypospadias - maxillary diastema 96167 Recombinant 8 syndrome 254902 Renal tubulopathy - encephalopathy - liver 3025 Radial ray agenesis 171220 Rectal duplication failure 3026 Radial ray hypoplasia - choanal atresia 100081 Rectal endocrine tumor 1092 Renal-genital-middle ear anomalies 90021 Radiation myelitis

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 45 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 294415 Renal-hepatic-pancreatic dysplasia 59315 163727 Rolandic epilepsy - paroxysmal exercise- induced dystonia - writer's cramp 774 Rendu-Osler-Weber disease 140976 RHYNS syndrome 163721 Rolandic epilepsy - speech dyspraxia 93975 Renier-Gabreels-Jasper syndrome 1399 Richards-Rundle syndrome 86921 Rolled and spiral - palmoplantar 100057 Renin-angiotensin-aldosterone system- 3101 Richieri Costa-da Silva syndrome keratoderma blocker-induced angioedema 3102 Richieri Costa-Pereira syndrome 101016 Romano-Ward syndrome 3242 Renpenning syndrome 83312 Rickettsialpox 3110 Rombo syndrome 99832 Resistance to thyrotropin-releasing 64744 Riedel thyroiditis hormone syndrome 99784 Roothless teeth 91483 Rieger's anomaly 79127 Respiratory bronchiolitis - interstitial lung 251975 Rosette-forming glioneuronal tumour of disease 99081 Right aortic arch the fourth ventricule 284102 Response to polyethylene glycol/ 99119 Right inferior vena cava connecting to 90339 Rosselli-Gulienetti syndrome interferon-ribavirin in hepatitis C virus left-sided atrium 2909 Rothmund-Thomson syndrome 33355 Reticular dysgenesis 99110 Right superior vena cava connecting to 221008 Rothmund-Thomson syndrome type 1 left-sided atrium 99002 Reticular dystrophy of the retinal pigment 221016 Rothmund-Thomson syndrome type 2 293848 Right temporal lobar atrophy 3111 Rotor syndrome 100000 Reticular perineurioma 439 Right ventricular hypoplasia 99968 Round-cell liposarcoma 178307 Reticulate acropigmentation of Kitamura 97244 Rigid spine syndrome 3115 Roussy-Levy syndrome 75326 Retinal arteries tortuosity 1437 1 83616 Rubella panencephalitis 71213 Retinal 1438 Ring chromosome 10 783 Rubinstein-Taybi syndrome 1574 Retinal degeneration - nanophthalmos - 96175 Ring 3118 Rudiger syndrome glaucoma 1439 Ring 3121 Ruvalcaba syndrome 71862 Retinal dystrophy 96176 Ring chromosome 13 3124 791 Retinitis pigmentosa 1440 Ring chromosome 14 1773 Sacrococcygeal dysgenesis association 3085 Retinitis pigmentosa - intellectual deficit - 96177 deafness - hypogenitalism 794 Saethre-Chotzen syndrome 96178 Ring chromosome 16 261512 Retinitis pigmentosa and intellectual 300493 Sagliker syndrome deficit due to monosomy Xp11.3 1441 Ring 70472 Saguenay-Lac-St. Jean cytochrome oxidase 1442 Ring 52427 Retinitis punctata albescens deficiency 1443 Ring 790 Retinoblastoma 3128 Sakati-Nyhan syndrome 96171 Ring chromosome 2 3087 Retinohepatoendocrinologic syndrome 99673 Salamon-milicevic syndrome 1444 Ring chromosome 20 3088 Retinopathy - anemia- central nervous 140969 Saldino-Mainzer syndrome system anomalies 1445 Ring chromosome 21 213557 Salivary gland type cancer of the breast 90050 Retinopathy of prematurity 1446 795 Salmonellosis 139455 Retinopathy, Burgess-Black type 96172 Ring 796 Sandhoff disease 269200 Retrocerebellar cyst 1447 Ring chromosome 4 71272 Sandifer syndrome 49041 Retroperitoneal fibrosis 251043 Ring chromosome 5 79269 type A 778 Rett syndrome 1448 Ring chromosome 6 79270 Sanfilippo syndrome type B 294049 Reunion island's Larsen syndrome 1449 Ring chromosome 7 79271 Sanfilippo syndrome type C 284388 Reversible cerebral vasoconstriction 1450 Ring syndrome 79272 Sanfilippo syndrome type D 96173 Ring chromosome 9 3096 Reye's syndrome 2323 Sanjad-Sakati syndrome 261529 Ring chromosome Y 779 Reynolds syndrome 793 SAPHO syndrome 91481 Ring dermoid of cornea 71275 Rh deficiency syndrome 54368 Sarcocystosis 169 Ringed 69077 Rhabdoid tumor 797 Sarcoidosis 97238 Rippling muscle disease 780 Rhabdomyosarcoma 3129 206575 Rippling muscle disease with myasthenia 3130 Satoyoshi syndrome 213802 Rhabdomyosarcoma of the cervix uteri gravis 3132 Say-Barber-Miller syndrome 213615 Rhabdomyosarcoma of the corpus uteri 3103 3133 Say-Field-Coldwell syndrome 3099 Rheumatic fever 3104 Robin sequence - oligodactyly 1003 Scalp defects - postaxial polydactyly 177 Rhizomelic chondrodysplasia punctata 97360 Robinow syndrome 2036 Scalp-ear-nipple syndrome 2831 Rhizomelic dysplasia, Patterson-Lowry 3105 Robinow-like syndrome type 85146 Scapuloperoneal amyotrophy 3106 Robinow-Sorauf syndrome 93569 Rhizomelic pseudopolyarthritis 3134 SCARF syndrome 529 Roch-Leri mesosomatous lipomatosis 3098 Rhizomelic syndrome 90080 Scarring in glaucoma filtration surgical 83311 Rocky Mountain spotted fever procedures

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 46 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 93474 Scheie syndrome 84081 Senior-Boichis syndrome 171430 Severe congenital nemaline myopathy 2353 Schilbach-Rott syndrome 3156 Senior-Loken syndrome 42738 Severe congenital neutropenia 59298 Schilder disease 217622 Sensorineural deafness with dilated 228374 Severe early-onset axonal neuropathy due cardiomyopathy to NEFL deficiency 1830 Schimke immuno-osseous dysplasia 66633 Sensorineural hearing loss - early greying 169802 Severe hemophilia A 798 Schinzel-Giedion syndrome - essential tremor 169793 Severe hemophilia B 63862 Schisis association 70595 Sensory ataxic neuropathy - dysarthria - 95706 Severe hypospadias 1247 Schistosomiasis ophthalmoparesis 94075 Severe immune-mediated enteropathy 799 2683 Sensory neuropathy - spastic paraplegia 94066 Severe intellectual deficit - epilepsy - anal 3141 Schizophrenia - intellectual deficit - 90051 in premature anomalies - distal phalangeal hypoplasia deafness - retinitis 180154 Septate vagina 280763 Severe intellectual deficit and progressive 3144 Schneckenbecken dysplasia 3157 Septo-optic dysplasia spastic paraplegia 37748 Schnitzler syndrome 1853 Septooptic dysplasia - digital anomalies 209370 Severe neonatal-onset encephalopathy 98967 Schnyder corneal dystrophy with microcephaly 280195 Septopreoptic holoprosencephaly 50944 Schopf-Schulz-Passarge syndrome 169095 Severe T-cell immunodeficiency - 139466 SERKAL syndrome 800 Schwartz-Jampel syndrome congenital alopecia - nail dystrophy 43116 syndrome 185 Scimitar syndrome 3078 Severe X-linked intellectual deficit, 206470 Serous or mucinous cystadenoma of Gustavson type 801 Scleroderma childhood 238329 Severe X-linked mitochondrial 167635 Scleromyxedema 2853 Serpentine fibula - polycystic kidneys encephalomyopathy 90400 Scleromyxedema without monoclonal 35686 Serpiginous choroiditis 3162 Sezary's syndrome gammopathy 199343 SeSAME syndrome 91355 Sheehan syndrome 238593 Sclerosing mesenteritis 85165 Severe achondroplasia - developmental 1147 Sheldon-Hall syndrome 100001 Sclerosing perineurioma delay - acanthosis nigricans 810 Shigellosis 3152 Sclerosteosis 140896 Severe acute respiratory syndrome 99063 Shone complex 806 Scott syndrome 90057 Severe closed traumatic brain injury 35123 Short chain 3-hydroxyacyl-CoA 83317 Scrub typhus 183660 Severe combined immunodeficiency dehydrogenase deficiency 158029 Sea-blue histiocytosis 169079 Severe combined immunodeficiency 66518 Short fifth metacarpals - insulin resistance - microcephaly - growth retardation - 807 Sebastian syndrome 1505 Short -polydactyly syndrome sensitivity to ionizing radiation 841 Sebocystomatosis 93268 Short rib-polydactyly syndrome, Beemer- 268330 Severe combined immunodeficiency and Langer type 168606 Seborrhea-like dermatitis with psoriasiform related disorders elements 93269 Short rib-polydactyly syndrome, Majewski 277 Severe combined immunodeficiency due to type 808 adenosine deaminase deficiency 93270 Short rib-polydactyly syndrome, Saldino- 141022 Second branchial cleft anomaly 228003 Severe combined immunodeficiency due to Noonan type 139420 Secondary acute transverse myelitis CORO1A deficiency 93271 Short rib-polydactyly syndrome, Verma- 169090 Severe combined immunodeficiency due to 85445 Secondary amyloidosis Naumoff type CRAC channel dysfunction 169618 Secondary central precocious puberty 2858 Short stature - contractures - hypotonia 217390 Severe combined immunodeficiency due to 91365 Secondary ciliary dyskinesia DOCK8 deficiency 2994 Short stature - craniofacial anomalies - genital hypoplasia 90363 Secondary intestinal lymphangiectasia 280142 Severe combined immunodeficiency due to 99930 Secondary pulmonary hemosiderosis LCK deficiency 2866 Short stature - deafness - neutrophil dysfunction - dysmorphism 95427 Secondary short bowel syndrome 169160 Severe combined immunodeficiency T- B+ due to CD3delta/CD3epsilon/CD3zeta 1088 Short stature - heart defect - craniofacial 99857 Secondary syringomyelia anomalies 169157 Severe combined immunodeficiency T- B+ 67039 Segmental odontomaxillary dysplasia due to CD45 deficiency 2649 Short stature - intellectual deficit - eye anomalies - cleft lip/palate 137608 Segmental outgrowth - lipomatosis - 276 Severe combined immunodeficiency T- B+ arteriovenous malformation - epidermal due to gamma chain deficiency 2651 Short stature - intellectual deficit - eye nevus defects - absent patella 169154 Severe combined immunodeficiency T- B+ 79156 Seizures - intellectual deficit due to due to IL-7Ralpha deficiency 99697 Short stature - kidney insufficiency hydroxylysinuria - ophtalmological anomaly - growth 35078 Severe combined immunodeficiency T- B+ retardation - ectodermal dysplasia 165994 Selective pituitary resistance to thyroid due to JAK3 deficiency hormone 2861 Short stature - microcephaly - heart defect 231154 Severe combined immunodeficiency T+ B+ 281122 Self-healing collodion baby due to partial RAG1 deficiency 85442 Short stature - pituitary and cerebellar defects - small sella turcica 90397 Self-healing papular mucinosis 275 Severe combined immunodeficiency, 100069 Semantic dementia alymphocytotic type 2864 Short stature - prognathism - short femoral necks 220386 Semilobar holoprosencephaly 300298 Severe congenital with ringed sideroblasts

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 47 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 2868 Short stature - valvular heart disease - 1260 Sino-auricular heart block 3011 Spastic quadriplegia - retinitis pigmentosa characteristic facies - intellectual deficit 158014 Sinus histiocytosis with massive 2865 Short stature - webbed neck - heart disease lymphadenopathy 3175 Spasticity - intellectual deficit - X-linked epilepsy 2863 Short stature - wormian bones - 3122 Sinus node disease - myopia dextrocardia 169443 Specific antibody deficiency with normal 3169 Sirenomelia immunoglobulin concentrations and 629 Short stature due to growth hormone 2882 Sitosterolemia normal numbers of B cells qualitative anomaly 157769 Situs ambiguus 209908 Speech-language disorder type 1 632 Short stature due to isolated growth hormone deficiency with X-linked 101063 Situs inversus totalis 99865 Spermatocytic seminoma hypogammaglobulinemia 816 Sjögren-Larsson syndrome 98866 Spherocytic elliptocytosis 140941 Short stature due to primary acid-labile 1858 Skeletal dysplasia - epilepsy - short stature 268129 Spheroid body myopathy subunit deficiency 1436 Skeletal dysplasia - intellectual deficit 3176 Spina bifida - hypospadias 2867 Short stature, Brussels type 1841 Skeletal dysplasia - orofacial anomalies 268369 Spina bifida aperta 171706 Short stature-delayed due to thyroid hormone metabolism deficiency 293165 Skin fragility-woolly hair-palmoplantar 268744 Spina bifida cystica keratoderma syndrome 3163 SHORT syndrome 1217 Spinal atrophy - ophthalmoplegia - 104075 Small bowel adenocarcinoma pyramidal syndrome 2832 Short - absence of lower eyelashes 104076 Small bowel leiomyosarcoma 90058 Spinal cord injury 2580 Shoulder and girdle defects - familial intellectual deficit 284400 Small cell carcinoma of the bladder 73245 Spinal muscular atrophy - Dandy-Walker complex - cataracts 1940 Shoulder and deformity - congenital 70573 Small cell lung cancer heart disease 93974 Smith-Fineman-Myers syndrome 98920 Spinal muscular atrophy with respiratory distress 2462 Shprintzen-Goldberg syndrome 818 Smith-Lemli-Opitz syndrome 210584 Spindle cell hemangioma 811 Shwachman-Diamond syndrome 819 Smith-Magenis syndrome 1185 Spinocerebellar ataxia - dysmorphism 98932 Shy-Drager syndrome 178355 Smith-McCort dysplasia 98755 Spinocerebellar ataxia type 1 812 Sialidosis type 1 158775 Smouldering systemic mastocytosis 94124 Spinocerebellar ataxia type 1 with axonal 87876 Sialidosis type 2 820 Sneddon syndrome neuropathy 3166 Sialuria, French type 91496 Snowflake vitreoretinal degeneration 98761 Spinocerebellar ataxia type 10 75789 SIBIDS syndrome 97230 Solar urticaria 98767 Spinocerebellar ataxia type 11 166282 Sick sinus syndrome 83468 Solitary bone cyst 98762 Spinocerebellar ataxia type 12 251359 Sickle cell - beta-thalassemia disease 2286 Solitary median maxillary central incisor 98768 Spinocerebellar ataxia type 13 251365 Sickle cell - hemoglobin C disease syndrome 98763 Spinocerebellar ataxia type 14 251370 Sickle cell - hemoglobin D disease 100035 Solitary necrotic tumor of the liver 98769 Spinocerebellar ataxia type 15 251375 Sickle cell - hemoglobin E disease 209964 Solitary rectal ulcer syndrome 98770 Spinocerebellar ataxia type 16 232 Sickle cell anemia 97283 Somatostatinoma 98759 Spinocerebellar ataxia type 17 3167 Siegler-Brewer-Carey syndrome 59181 Sorsby's fundus dystrophy 98771 Spinocerebellar ataxia type 18 71276 Silent sinus syndrome 821 98772 Spinocerebellar ataxia type 19 3168 Sillence syndrome 98868 Southeast asian ovalocytosis 98756 Spinocerebellar ataxia type 2 813 Silver-Russell syndrome 79132 Sparse hair - short stature - skin anomalies 101110 Spinocerebellar ataxia type 20 231144 Silver-Russell syndrome due to 11p15 279882 Spasmus nutans 98773 Spinocerebellar ataxia type 21 microduplication 2572 Spastic ataxia - corneal dystrophy 101107 Spinocerebellar ataxia type 22 231137 Silver-Russell syndrome due to 7p11.2p13 1182 Spastic ataxia with congenital miosis microduplication 101108 Spinocerebellar ataxia type 23 98 Spastic ataxia, Charlevoix-Saguenay type 231140 Silver-Russell syndrome due to imprinting 101111 Spinocerebellar ataxia type 25 1680 Spastic diplegia, infantile type defect of 11p15 101112 Spinocerebellar ataxia type 26 2815 Spastic paraparesis - deafness 231147 Silver-Russell syndrome due to maternal 98764 Spinocerebellar ataxia type 27 uniparental disomy of chromosome 11 2819 Spastic paraplegia - facial-cutaneous 101109 Spinocerebellar ataxia type 28 96182 Silver-Russell syndrome due to maternal lesions uniparental disomy of chromosome 7 2818 Spastic paraplegia - glaucoma - intellectual 208513 Spinocerebellar ataxia type 29 91139 Simple cryoglobulinemia deficit 98757 Spinocerebellar ataxia type 3 373 Simpson-Golabi-Behmel syndrome 2820 Spastic paraplegia - nephritis - deafness 211017 Spinocerebellar ataxia type 30 79022 Simpson-Golabi-Behmel syndrome type 2 2821 Spastic paraplegia - neuropathy - 217012 Spinocerebellar ataxia type 31 poikiloderma 97337 Sinding-Larsen-Johansson disease 276183 Spinocerebellar ataxia type 32 2826 Spastic paraplegia - precocious puberty 99097 Single ventricular septal defect 276193 Spinocerebellar ataxia type 35 99015 Spastic paraplegia type 2 85191 Singleton-Merten dysplasia 276198 Spinocerebellar ataxia type 36

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 48 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 98765 Spinocerebellar ataxia type 4 93352 Spondyloepimetaphyseal dysplasia, Shohat 611 Sporadic inclusion body myositis type 98766 Spinocerebellar ataxia type 5 225147 Sporadic infantile bilateral striatal necrosis 94068 Spondyloepiphyseal dysplasia congenita 98758 Spinocerebellar ataxia type 6 255199 Sporadic Leigh syndrome 93284 Spondyloepiphyseal dysplasia tarda 94147 Spinocerebellar ataxia type 7 276624 Sporadic pheochromocytoma 163665 Spondyloepiphyseal dysplasia tarda, Kohn 98760 Spinocerebellar ataxia type 8 276621 Sporadic pheochromocytoma/secreting type paraganglioma 64753 Spinocerebellar ataxia with axonal 163654 Spondyloepiphyseal dysplasia, Cantu type neuropathy type 2 276627 Sporadic secreting paraganglioma 93283 Spondyloepiphyseal dysplasia, Kimberley 254881 Spinocerebellar ataxia with epilepsy 826 Sporotrichosis type 99903 Spirillary rat-bite fever 3181 Sprengel deformity 163668 Spondyloepiphyseal dysplasia, MacDermot 300869 Splenic diffuse red pulp lymphoma type 67037 Squamous cell carcinoma of head and neck 86854 Splenic marginal zone lymphoma 263482 Spondyloepiphyseal dysplasia, Maroteaux 213716 Squamous cell carcinoma of the corpus uteri 2063 Splenogonadal fusion - limb defects - type micrognathia 163649 Spondyloepiphyseal dysplasia, Nishimura 83484 St Louis encephalitis 294994 Split foot type 3183 Stampe-Sorensen syndrome 295126 Split foot, bilateral 163662 Spondyloepiphyseal dysplasia, Reardon 140917 Stapes ankylosis with broad thumbs and type toes 295124 Split foot, unilateral 228387 Spondylo-megaepiphyseal-metaphyseal 36238 Staphylococcal necrotizing pneumonia 294992 Split hand dysplasia 36236 Staphylococcal scalded skin syndrome 71271 Split hand - split foot - deafness 168552 Spondylometaphyseal dysplasia - bowed 36235 Staphylococcal scarlet fever 2437 Split hand - urinary anomalies - spina - facial dysmorphism bifida 85167 Spondylometaphyseal dysplasia - cone-rod 99919 Staphylococcal toxic-shock syndrome 295122 Split hand, bilateral dystrophy 827 Stargardt disease 295120 Split hand, unilateral 50816 Spondylometaphyseal dysplasia with 166427 Startle epilepsy combined immunodeficiency 2440 Split hand-split foot malformation 3184 - natal teeth 168555 Spondylometaphyseal dysplasia, A4 type 93357 SPONASTRIME dysplasia 273 Steinert myotonic dystrophy 93315 Spondylometaphyseal dysplasia, 'corner 3180 Spondylocamptodactyly syndrome fracture' type 90074 transplantation 94095 Spondylocostal dysostosis - anal and 168544 Spondylometaphyseal dysplasia, Golden 268316 Stenosis and/or thrombosis of fistula in genitourinary malformations type hemodialysis 1855 Spondyloenchondrodysplasia 93314 Spondylometaphyseal dysplasia, Kozlowski 90054 Stenosis in synthetic grafts used in hemodialysis 168451 Spondyloepimetaphyseal dysplasia - type abnormal dentition 93316 Spondylometaphyseal dysplasia, Schmidt 99087 Stenosis or atrophy of the coronary ostium 168443 Spondyloepimetaphyseal dysplasia - type 210115 Sterile multifocal osteomyelitis with hypotrichosis 93317 Spondylometaphyseal dysplasia, periostitis and pustulosis 93358 Spondyloepimetaphyseal dysplasia - short Sedaghatian type 2017 limb - abnormal calcification 85194 Spondylo-ocular syndrome 3195 Sternal malformation - vascular dysplasia 93346 Spondyloepimetaphyseal dysplasia 1856 Spondyloperipheral dysplasia - short ulna 3194 Stern-Lubinsky-Durrie syndrome congenita, Strudwick type 29822 Spontaneous periodic hypothermia 3196 Steroid dehydrogenase deficiency - dental 93359 Spondyloepimetaphyseal dysplasia with anomalies joint laxity 99722 Sporadic achalasia 83601 Steroid-responsive encephalopathy 93360 Spondyloepimetaphyseal dysplasia with 247234 Sporadic adult-onset ataxia of unknown associated with autoimmune thyroiditis multiple dislocations etiology 97552 Steroid-sensitive nephrotic syndrome 171866 Spondyloepimetaphyseal dysplasia, 84271 Sporadic idiopathic steroid-resistant without renal biopsy aggrecan type nephrotic syndrome 36426 Stevens-Johnson syndrome 168448 Spondyloepimetaphyseal dysplasia, 97555 Sporadic idiopathic steroid-resistant Bieganski type nephrotic syndrome with collapsing 828 Stickler syndrome glomerulopathy 168454 Spondyloepimetaphyseal dysplasia, 90653 Stickler syndrome type 1 Genevieve type 93222 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial 90654 Stickler syndrome type 2 99642 Spondyloepimetaphyseal dysplasia, proliferation 166100 Stickler syndrome type 3 Handigodu type 93220 Sporadic idiopathic steroid-resistant 2833 Stiff skin syndrome 93351 Spondyloepimetaphyseal dysplasia, Irapa nephrotic syndrome with diffuse mesangial 3198 Stiff-man syndrome type sclerosis 3199 Stimmler syndrome 156728 Spondyloepimetaphyseal dysplasia, 93218 Sporadic idiopathic steroid-resistant matrilin-3 type nephrotic syndrome with focal segmental 3200 Stoll-Alembik-Finck syndrome hyalinosis 93356 Spondyloepimetaphyseal dysplasia, 3204 Stormorken-Sjaastad-Langslet syndrome Missouri type 93221 Sporadic idiopathic steroid-resistant 99064 Straddling and/or overriding mitral valve 93282 Spondyloepimetaphyseal dysplasia, nephrotic syndrome with minimal changes Pakistani type 95461 Straddling or overriding tricuspid valve

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 49 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 99905 Streptobacillary rat-bite fever 295138 Symbrachydactyly of hand and foot, 90291 Systemic sclerosis bilateral 99918 Streptococcal toxic-shock syndrome 85414 Systemic-onset juvenile idiopathic 295136 Symbrachydactyly of hand and foot, arthritis 137599 Stromal keratitis unilateral 3284 Tachycardia - hypertension - 76 Strongyloidiasis 1570 Symbrachydactyly of and feet microphthalmos - hyperglycinuria 830 Stuccokeratosis 1314 Symmetrical thalamic calcifications 99974 TACI-related selective deficiency of IgA 3205 Sturge-Weber syndrome 79098 Sympathetic ophthalmia 3287 Takayasu arteritis 3206 Stuve-Wiedemann syndrome 3246 Symphalangism with multiple anomalies of 66529 Tako-Tsubo cardiomyopathy 166277 Suarez-Stickler syndrome hands and feet 50809 Talo-patello-scaphoid osteolysis 163525 Subacute cutaneous lupus erythematosus 276630 Symptomatic form of Coffin-Lowry 31150 Tangier disease 206594 Subacute inflammatory demyelinating syndrome in female carriers 1776 Tardive dyskinesia polyneuropathy 177926 Symptomatic form of hemophilia A in 2886 TARP syndrome 2806 Subacute sclerosing leukoencephalitis female carriers 99170 Tarsal kink syndrome 99113 Subaortic course of innominate vein 177929 Symptomatic form of hemophilia B in female carriers 1412 Tarsal-carpal coalition syndrome 3191 Subaortic stenosis - short stature 206546 Symptomatic form of muscular dystrophy 2731 Taurodontia - absent teeth - sparse hair 48377 Subcorneal pustular dermatosis of Duchenne and Becker in female carriers 3289 Taurodontism 99796 Subcortical band heterotopia 98915 Synaptic congenital myasthenic syndromes 101042 Taussig-Bing syndrome 101029 Sub-cortical nodular heterotopia 140952 Syndactyly - telecanthus - anogenital and 845 Tay-Sachs disease 86884 Subcutaneous panniculitis-like T-cell renal malformations lymphoma 93402 Syndactyly type 1 86872 T-cell large granular lymphocyte leukemia 251618 Subependymal giant cell astrocytoma 93403 Syndactyly type 2 86871 T-cell prolymphocytic leukemia 101030 Subependymal nodular heterotopia 93404 Syndactyly type 3 300857 T-cell/ rich large B cell lymphoma 251639 Subependymoma 93405 Syndactyly type 4 3291 Teebi-Shaltout syndrome 98959 Subepithelial mucinous corneal dystrophy 93406 Syndactyly type 5 3292 Tel Hashomer camptodactyly syndrome 155878 Submucosal cleft palate 295012 Syndactyly type 6 90389 Telangiectasia macularis eruptiva perstans 3190 Subpulmonary stenosis 2498 Syndactyly type 8 3293 Telecanthus - hypertelorism - strabismus - pes cavus 180129 Subtotal septate uterus 3259 Syndactyly-polydactyly-ear lobe syndrome 284227 TEMPI syndrome 936 Succinic acidemia 84064 Syndromic diarrhea 1777 Temtamy syndrome 832 Succinyl-CoA acetoacetate transferase 178364 Syndromic microphthalmia type 5 deficiency 252018 Teratoma of the central nervous system 228426 Syndromic multisystem autoimmune 168593 Sudden infant - dysgenesis of the disease due to Itch deficiency 88630 Terminal osseous dysplasia - pigmentary testes defects 137905 Syndromic optic nerve hypoplasia 99732 Sulfite oxidase deficiency due to 93937 Terminal transverse defects of arm molybdenum cofactor deficiency 98606 Syndromic orbital border hypoplasia 141258 Tessier number 4 facial cleft 3210 Summitt syndrome 281090 Syndromic X-linked ichthyosis 141261 Tessier number 5 facial cleft 57145 SUNCT syndrome 85274 Syndromic X-linked intellectual deficit 7 141265 Tessier number 6 facial cleft 455 Superficial epidermolytic ichthyosis 85279 Syndromic X-linked intellectual deficit due to JARID1C mutation 842 Testicular seminoma 46485 Superficial pemphigus 3263 Syngnathia - cleft palate 3000 Testotoxicosis 247245 Superficial 3262 Syngnathia multiple anomalies 3299 Tetanus 88633 Superior limbic keratoconjunctivitis 3268 Synostosis - microcephaly - scoliosis 294971 Tetraamelia 180182 Supernumerary 3273 3301 Tetraamelia - multiple malformations 141096 Supernumerary nostril 295195 type 1 199310 Tetragametic chimerism 3193 Supravalvular aortic stenosis 295197 Synpolydactyly type 2 293284 Tetrahydrobiopterin-responsive 3192 Supravalvular pulmonary stenosis hyperphenylalaninemia/phenylketonuria 295199 Synpolydactyly type 3 838 Susac syndrome 3303 Tetralogy of Fallot 3275 Synspondylism 284121 Susceptibility to adverse reaction due to 2564 Tetramelic monodactyly clozapine 840 Syringocystadenoma papilliferum 3305 Tetraploidy 284113 Susceptibility to adverse reaction due to 3280 Syringomyelia 884 12p mercaptopurine 2039 Systemic arteriovenous fistula 3307 Tetrasomy 18p 2566 Susceptibility to chronic infection by 2467 Systemic mastocytosis Epstein-Barr virus 96055 Tetrasomy 21 98849 Systemic mastocytosis with an associated 169085 Susceptibility to respiratory infections clonal hematologic non-mast cell lineage 3309 Tetrasomy 5p associated with CD8alpha chain mutation disease 3310 3243 Sweet syndrome 90069 Systemic monochloroacetate poisoning

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 50 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 9 95720 Thyroid hypoplasia 169139 Transient hypogammaglobulinemia of infancy 3312 Thalidomide embryopathy 97285 Thyroid lymphoma 1153 Transient neonatal arthrogryposis 1860 Thanatophoric dwarfism type I 95721 Thyroid pyramidal lobe 99886 Transient neonatal diabetes mellitus 93274 Thanatophoric dwarfism type II 79102 Thyrotoxic periodic paralysis 93164 Transient pseudohypoaldosteronism 2655 91347 Thyrotroph adenoma 213746 Transitional cell carcinoma of the corpus 93275 Thanatophoric dysplasia, Glasgow variant 3329 Tibial aplasia - ectrodactyly uteri 99917 Theca steroid-producing cell malignant 93322 Tibial hemimelia 56970 Transmissible spongiform encephalopathies tumor, not further specified 295079 Tibial hemimelia, bilateral 85451 Transthyretin-related familial amyloid 199348 Thiamine-responsive encephalopathy 295077 Tibial hemimelia, unilateral cardiomyopathy 49827 Thiamine-responsive 609 Tibial muscular dystrophy 2486 Transverse limb deficiency - hemangioma syndrome 295028 Tibio-fibular synostosis 180160 Transverse vaginal septum 268184 Thiamin-responsive maple syrup urine disease 297 Tick-borne encephalitis 32960 TRAPS syndrome 2405 Thickened earlobes - conductive deafness 42665 861 Treacher-Collins syndrome 98960 Thiel-Behnke corneal dystrophy 65283 97291 Treatment of aspiration pneumotitis requiring intubation and mechanical 3314 Thiemann disease, familial form 228407 TMCO1 defect syndrome ventilation 1506 Thin - tubular bones - dysmorphism 64686 Tolosa-Hunt syndrome 97292 Treatment of cardiogenic shock 166424 Thinking seizures 1920 Toluene embryopathy 3349 Treft-Sanborn-Carey syndrome 3315 Thiopurine S-methyltransferase deficiency 3336 Tomé-Brunet-Fardeau syndrome 3350 Tremor - nystagmus - duodenal ulcer 141030 Third branchial cleft anomaly 3460 Torg-Winchester syndrome 64694 Trench fever 3316 Thomas syndrome 3338 Toriello-Carey syndrome 1463 Triatrial heart 614 Thomsen and Becker disease 3339 Toriello-Lacassie-Droste syndrome 863 Trichinellosis 1861 Thoracic dysplasia-hydrocephalus 3340 Torres-Aybar syndrome 3351 Trichodental syndrome syndrome 51084 Torsade-de-pointes syndrome with short 3352 Tricho-dento-osseous syndrome 97330 Thoracic outlet syndrome coupling interval 3360 Trichodermal syndrome - intellectual 1759 Thoraco-abdominal enteric duplication 3341 Torticollis - keloids - cryptorchidism - renal dysplasia deficit 3317 Thoracolaryngopelvic dysplasia 98994 Total congenital cataract 3353 Trichodermodysplasia - dental alterations 268384 Thoracolumbosacral spina bifida aperta 99740 Total intestinal aganglionosis 79129 Trichodysplasia - amelogenesis imperfecta 268752 Thoracolumbosacral spina bifida cystica 180126 Total septate uterus 99686 Trichodysplasia - onychogryposis - 1803 Thoracomelic dysplasia deafness 268377 Total spina bifida aperta 496 Thost-Unna palmoplantar keratoderma 3361 Trichodysplasia - xeroderma 268748 Total spina bifida cystica 3320 Thrombocytopenia - absent radius 99695 Tricho-facio-hypohidrotic syndrome 857 Townes-Brocks syndrome 3323 Thrombocytopenia - Robin sequence 864 Trichofolliculoma 95455 Toxic epidermal necrolysis 54057 Thrombotic thrombocytopenic purpura 865 Trichomalacia 279894 Toxic maculopathy due to antimalarial 2944 Thumb absence - hypoplastic halluces drugs 3362 Trichomegaly - cataract - hereditary 2251 Thumb deformity - alopecia - pigmentation spherocytosis 227972 Toxic oil syndrome anomaly 3363 Trichomegaly - retina pigmentary 206619 Toxic or/and iatrogenic neuropathy 1078 Thumb stiffness - brachydactyly - degeneration - dwarfism intellectual deficit 3343 Toxocariasis 3354 Tricho-oculo-dermo-vertebral syndrome 99868 Thymic carcinoma 3346 Tracheal agenesis 3355 Tricho-odonto-onychial dysplasia 97289 Thymic endocrine tumor 3347 3356 Tricho-odonto-onycho-dermal syndrome 3398 Thymic epithelial neoplasm 3348 Tracheobronchopathia 3357 Tricho-odonto-onychodysplasia - dominant osteochondroplastica 99869 Thymic neuroendocrine carcinoma syndactyly 2042 Tracheo-esophageal fistula - hypospadias 3326 Thymic-renal-anal-lung dysplasia 99676 Tricho-odonto-onychodysplasia - pili torti 101028 Transaldolase deficiency 99867 Thymoma 99670 Tricho-odonto-onycho-hypohidrotic 859 Transcobalamin II deficiency dysplasia with cataract 263310 Thymoma type A 79411 Transient bullous dermolysis of the 99693 Tricho-onychodysplasia - xeroderma 263324 Thymoma type AB newborn 1264 Tricho-retino-dento-digital syndrome 263317 Thymoma type B 178045 Transient congenital hypothyroidism 77258 Trichorhinophalangeal syndrome type 1 3327 Thyrocerebrorenal syndrome 98871 Transient erythroblastopenia of childhood and 3 489 Thyroglossal duct cyst 2312 Transient familial neonatal 866 Trichostasis spinulosa 95712 Thyroid ectopia hyperbilirubinemia 33364 Trichothiodystrophy 95719 Thyroid hemiagenesis 289877 Transient hyperammonemia of the newborn 1209 Tricuspid atresia

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 51 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 95457 Tricuspid valve agenesis 3392 Tularemia 93176 Unilateral congenital megacalycosis 95458 Tricuspid valve prolapse 53715 Tumoral calcinosis 268947 Unilateral focal polymicrogyria 157843 Trigeminal autonomic cephalalgia 879 Tungiasis 101071 Unilateral hemispheric polymicrogyria 221091 Trigeminal neuralgia 99053 Tunnel subaortic stenosis 97363 Unilateral multicystic renal dysplasia 3368 Trigonocephaly - bifid nose - acral 99818 Turcot syndrome with polyposis 268943 Unilateral polymicrogyria anomalies 881 Turner syndrome 93100 Unilateral renal agenesis 3365 Trigonocephaly - broad thumbs 99413 Turner syndrome due to structural X 93172 Unilateral renal dysplasia 3369 Trigonocephaly - short stature - chromosome anomalies 97361 Unilateral renal hypoplasia developmental delay 95431 Twin to twin transfusion syndrome 95483 Univentricular cardiopathy 35056 93554 Type II mixed cryoglobulinemia 1464 Univentricular heart 3374 Triopia 93555 Type III mixed cryoglobulinemia 99069 Univentricular heart with single atrio- 868 Triose phosphate-isomerase deficiency 99745 Typhoid ventricular valve 2950 Triphalangeal thumb - polysyndactyly 90038 Typical hemolytic uremic syndrome 84096 Unknown leukodystrophy syndrome 171436 Typical nemaline myopathy 308 Unverricht-Lundborg disease 2947 Triphalangeal thumbs - brachyectrodactyly 158766 Typical urticaria pigmentosa 3408 Upington disease 869 Triple A syndrome 3402 oxidase temporary deficiency 2489 Upper limb defect - eye and ear 3376 Triploidy abnormalities 882 type 1 3377 - pseudocamptodactyly 295049 Upper limb hypertrophy 28378 Tyrosinemia type 2 171929 Trisomy 10p 2497 Upper limb mesomelic dysplasia 69723 Tyrosinemia type 3 3378 Trisomy 13 268740 Upper thoracic spina bifida aperta 3403 Uhl anomaly 261290 Trisomy 17p 268770 Upper thoracic spina bifida cystica 3404 Ulbright-Hodes syndrome 3380 Trisomy 18 488 Urachal cyst 3406 Ulerythema ophryogenesis 1715 Trisomy 18p 3409 Urban-Rogers-Meyer syndrome 2249 Ulna hypoplasia - intellectual deficit 261344 Trisomy 1q 94059 Uremic pruritus 1837 Ulna metaphyseal dysplasia syndrome 261318 Trisomy 20p 210128 Urocanic aciduria 93320 Ulnar hemimelia 1738 Trisomy 4p 79457 Urticaria pigmentosa 295073 Ulnar hemimelia, bilateral 1742 Trisomy 5p 886 295075 Ulnar hemimelia, unilateral 264450 Trisomy 8p 231169 Usher syndrome type 1 1122 Ulnar hypoplasia - lobster-claw deformity 1752 Trisomy 8q of feet 231178 Usher syndrome type 2 236 Trisomy 9p 52056 Ulnar/fibula ray defect - brachydactyly 231183 Usher syndrome type 3 3375 3138 Ulnar-mammary syndrome 180145 Uterine cervical aplasia and agenesis 1762 Trisomy Xq28 3405 Umbilical cord ulceration - intestinal 180139 Uterine hypoplasia 88629 Tritanopia atresia 1473 Uveal coloboma - cleft lip and palate - 1863 Trochlear dysplasia 86830 Unclassified chronic myeloproliferative intellectual deficit disease 99664 Trochlear nerve palsy 39044 Uveal melanoma 97569 Unclassified glomerulonephritis 75565 Tropical endomyocardial fibrosis 178338 UV-sensitive syndrome 104078 Unclassified intestinal pseudoobstruction 103918 Tropical pancreatitis 3412 VACTERL with hydrocephalus 91140 Unclassified juvenile idiopathic arthritis 289326 Tropical spastic paraparesis 887 VACTERL/VATER association 90345 Unclassified metaphyseal chondrodysplasia 100073 True neurogenic thoracic outlet syndrome 65681 Vaginal atresia 98827 Unclassified myelodysplastic syndrome 180074 True unicornuate uterus 180247 Vaginal carcinoma 98825 Unclassified myelodysplastic/ 100072 True vascular thoracic outlet syndrome 206489 Vaginal germ cell malignant tumor myeloproliferative disease 93956 Truncal dystonia 99054 Valvular pulmonary stenosis 1410 3384 Truncus arteriosus 3417 Van den Bosch syndrome 103920 Undetermined colitis 3389 Tuberculosis 2460 Van den Ende-Gupta syndrome 213721 Undifferentiated carcinoma of the corpus 805 Tuberous sclerosis uteri 888 2593 Tubular aggregate myopathy 90002 Undifferentiated connective tissue 3419 Van Regemorter-Pierquin-Vamos syndrome 100048 Tubular duplication of the esophagus syndrome 3160 Vascular disruption sequence 73224 Tubular renal disease - cardiomyopathy 178315 Undifferentiated embryonal sarcoma of the 2452 Vascular malposition liver 91500 Tubulointerstitial nephritis and uveitis 3423 Vasquez-Hurst-Sotos syndrome syndrome 180114 Unicervical bicornuate uterus 1053 Vein of Galen aneurysm 1063 137917 Unilateral choanal atresia 3424 Velo-facial-skeletal syndrome

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 52 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 3201 Ventricular extrasystoles with syncopal 899 Walker-Warburg syndrome 79414 Woolly hair nevus episodes - perodactyly - Robin sequence 280558 Warsaw breakage syndrome 3465 Worster-Drought syndrome 1480 Ventricular septal defect 69745 178475 Wound botulism 3429 Verloove Vanhorick-Brubakk syndrome 100067 Waterhouse-Friderichsen syndrome 165955 Wound myiasis 70476 Vernal keratoconjunctivitis 3444 2834 Wrinkly skin syndrome 79467 Verrucous nevus 3447 3466 WT limb- syndrome 26793 Very long chain acyl-CoA dehydrogenase 3446 Weaver-like syndrome 53719 Wyburn-Mason syndrome deficiency 3448 Weaver- 96201 X small rings 252175 Vestibular schwannoma 900 Wegener granulomatosis 93601 Xanthinuria type I 99663 Vestibular torticollis 3449 Weill-Marchesani syndrome 93602 Xanthinuria type II 1493 3344 Weismann-Netter syndrome 158003 Xanthoma disseminatum 97282 VIPoma 3450 Weissenbacher- Zweymuller syndrome 3468 Xeroderma - talipes - enamel defects 341 Viral hemorrhagic fever 213736 Well differentiated endocrine neoplasm of 910 228379 Virus-associated trichodysplasia spinulosa the corpus uteri 276249 Xeroderma pigmentosum complementation 280068 Visceral calciphylaxis 284395 Well-differentiated fetal adenocarcinoma group A 73246 Visceral neuropathy - brain anomalies - of the lung 276252 Xeroderma pigmentosum complementation facial dysmorphism - developmental delay 99971 Well-differentiated liposarcoma group B 28 Vitamin B12-responsive methylmalonic 263331 Well-differentiated thymic neuroendocrine 276255 Xeroderma pigmentosum complementation acidemia carcinoma group C 79310 Vitamin B12-responsive methylmalonic 901 Wells syndrome 276258 Xeroderma pigmentosum complementation acidemia type cblA group D 902 Werner syndrome 79311 Vitamin B12-responsive methylmalonic 276261 Xeroderma pigmentosum complementation acidemia type cblB 99683 Wesser-vistnes ectodermal dysplasia with group E palatal paralysis 27 Vitamin B12-unresponsive methylmalonic 276264 Xeroderma pigmentosum complementation acidemia 3451 West syndrome group F 247871 Vitiligo-associated 83593 Western equine encephalitis 276267 Xeroderma pigmentosum complementation 3437 Vogt-Koyanagi-Harada disease 83476 West-Nile encephalitis group G 98941 Von Hippel anomaly 51636 WHIM syndrome 90342 Xeroderma pigmentosum variant 892 Von Hippel-Lindau disease 3452 Whipple disease 220295 Xeroderma pigmentosum/Cockayne syndrome complex 3439 Von Voss-Cherstvoy syndrome 228290 White fibrous papulosis of the neck 3469 XK aprosencephaly 903 Von Willebrand disease 2475 White forelock with malformations 43 X-linked adrenoleukodystrophy 166078 Von Willebrand disease type 1 3207 White matter hypoplasia - corpus callosum agenesis - intellectual deficit 47 X-linked agammaglobulinemia 166081 Von Willebrand disease type 2 171723 88917 X-linked Alport syndrome 166084 Von Willebrand disease type 2A 1489 Whooping cough 596 X-linked centronuclear myopathy 166087 Von Willebrand disease type 2B 3454 Wieacker-Wolff syndrome 247765 X-linked cerebellar ataxia 166090 Von Willebrand disease type 2M 3455 Wiedemann-Rautenstrauch syndrome 1175 X-linked cerebellar ataxia type 1 166093 Von Willebrand disease type 2N 3456 Wildervanck syndrome 139396 X-linked cerebral adrenoleukodystrophy 166096 Von Willebrand disease type 3 904 Williams syndrome 64747 X-linked Charcot-Marie-Tooth disease 137583 Vulvar intraepithelial neoplasia 3458 Wilms tumor - radial bilateral aplasia 101075 X-linked Charcot-Marie-Tooth disease type 83453 Vulvovaginal gingival syndrome 905 Wilson disease 1 206492 Vulvovaginal rhabdomyosarcoma 3459 Wilson-Turner syndrome 101076 X-linked Charcot-Marie-Tooth disease type 2804 W syndrome 2 906 Wiskott-Aldrich syndrome 3440 101077 X-linked Charcot-Marie-Tooth disease type 1667 Wolcott-Rallison syndrome 894 Waardenburg syndrome type 1 3 280 Wolf-Hirschhorn syndrome 895 Waardenburg syndrome type 2 101078 X-linked Charcot-Marie-Tooth disease type 3463 Wolfram syndrome 4 896 Waardenburg syndrome type 3 75233 Wolman disease 99014 X-linked Charcot-Marie-Tooth disease type 3441 Waardenburg syndrome, Pierpont type 5 3464 Woodhouse-Sakati syndrome 897 Waardenburg-Shah syndrome 1497 X-linked complicated corpus callosum 170 Woolly hair 898 Wagner disease dysgenesis 1409 Woolly hair - hypotrichosis - everted lower 893 WAGR syndrome 90001 X-linked cone dysfunction syndrome with lip - outstanding ears myopia 99692 Walbaum-Dehaene-Schlemmer syndrome 65282 Woolly hair - palmoplantar keratoderma - 79495 X-linked congenital generalized 33226 Waldenström macroglobulinemia dilated cardiomyopathy hypertrichosis

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 53 ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 1661 X-linked corneal dermoid 452 X-linked lissencephaly with abnormal 3472 Yunis-Varon syndrome genitalia 52503 X-linked creatine transporter deficiency 98912 ZASP-related myofibrillar myopathy 2442 X-linked lymphoproliferative disease 1018 X-linked diffuse leiomyomatosis - Alport 97240 Zebra body myopathy syndrome 1131 X-linked mandibulofacial dysostosis 217017 Zechi-Ceide syndrome 1145 X-linked distal arthrogryposis multiplex 25980 X-linked myopathy with excessive 912 Zellweger syndrome congenita autophagy 50812 Zellweger-like syndrome without 139557 X-linked distal spinal muscular atrophy 178461 X-linked myopathy with postural muscle peroxisomal anomalies atrophy 35173 X-linked dominant chondrodysplasia 3473 Zimmermann-Laband syndrome punctata 85334 X-linked neurodegenerative syndrome, Bertini type 3253 Zlotogora-Ogur syndrome 163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 85336 X-linked neurodegenerative syndrome, 101036 Zlotogura-Martinez syndrome Hamel type 93951 X-linked dominant intellectual deficit - 913 Zollinger-Ellison syndrome epilepsy 777 X-linked nonsyndromic intellectual deficit 98995 Zonular cataract 53351 X-linked dystonia-parkinsonism 90625 X-linked nonsyndromic sensorineural 3474 Zunich-Kaye syndrome deafness type DFN 98863 X-linked Emery-Dreifuss muscular 295187 Zygodactyly type 1 dystrophy 93952 X-linked recessive intellectual deficit - epilepsy 295189 Zygodactyly type 2 293621 X-linked endothelial corneal dystrophy 83648 X-linked recessive intellectual deficit - 295191 Zygodactyly type 3 85294 X-linked epilepsy - learning disabilities - macrocephaly - ciliary dysfunction behavior disorders 295193 Zygodactyly type 4 54 X-linked recessive ocular albinism 139583 X-linked hereditary sensory and autonomic 73263 Zygomycosis neuropathy with deafness 85453 X-linked reticulate pigmentary disorder with systemic manifestations 101088 X-linked hyper-IgM syndrome 1852 X-linked retinal dysplasia 89936 X-linked hypophosphatemia 792 X-linked retinoschisis 37042 X-linked immune dysregulation - polyendocrinopathy - enteropathy 86788 X-linked severe congenital neutropenia 2571 X-linked immunoneurologic disorder 75563 X-linked sideroblastic anemia 85338 X-linked intellectual deficit - ataxia - 2802 X-linked sideroblastic anemia - ataxia apraxia 100997 X-linked spastic paraplegia type 16 2076 X-linked intellectual deficit - epilepsy 171607 X-linked spastic paraplegia type 34 73220 X-linked intellectual deficit - hypotonic 85297 X-linked spinocerebellar ataxia type 3 face 85292 X-linked spinocerebellar ataxia type 4 67045 X-linked intellectual deficit with isolated growth hormone deficiency 93349 X-linked spondyloepimetaphyseal dysplasia 776 X-linked intellectual deficit with marfanoid habitus 852 X-linked thrombocytopenia with normal platelets 93944 X-linked intellectual deficit, Fichera type 284180 Xp22.13p22.2 duplication syndrome 93947 X-linked intellectual deficit, Golabi-Ito- Hall type 261483 Xq27.3q28 duplication syndrome 163937 X-linked intellectual deficit, Najm type 99829 Yellow fever 93945 X-linked intellectual deficit, Porteous type 662 85278 X-linked intellectual deficit, South African 876 Yolk sac tumor type 252006 Yolk sac tumor of the central nervous 85326 X-linked intellectual deficit, Stoll type system 93950 X-linked intellectual deficit, Sutherland- 2828 Young adult-onset Parkinsonism Haan type 3471 Young syndrome

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Editor-in-chief: Odile Kremp  Visual design : Céline Angin  Photography: Alliance Maladies Rares / Karine Lhémon

The correct form when quoting this document is : « List of rare diseases - listed in alphabetical order », Orphanet Report Series, Rare Diseases collection, December 2012, http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Orphanet Report Series - List of rare diseases - listed in alphabetical number - December 2012 - Number 1 54 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf