May 2015 List of rare diseases and synonyms: Listed in alphabetical order www.orpha.net www.orphadata.org METHODOLOGY Orphanet provides a comprehensive inventory of rare diseases in Europe, published biannually as a list. Rare diseases registered in Orphanet are defined according to two scopes: • • Every entity is defined by its clinical homogeneity, regardless of its etiology or the number of causing genes identified. The rarity is defined according to the European legislation defining a prevalence threshold of not more than 5 affected persons per 10’000 (Regulation (EC) N°141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products, http://ec.europa.eu/health/files/eudralex/vol1/reg_2000_141/reg_2000_141_en.pdf) Registered rare diseases have been described in the international scientific literature (peer-reviewed articles) with at least two cases confirming that the clinical signs are not associated fortuitously. However, some diseases are registered although only one case has been reported in order to reproduce the comprehensiveness of a specific classification (notably within the classification of inborn errors of metabolism). Rare diseases are registered with a preferred name and as many synonyms as necessary. A unique identifier, the ORPHA number, is randomly attributed by the database to each disease. This number is never re-used, so it is stable in time. ORPHA number of rare diseases registered in the past may be absent from the current inventory. This is due to: • Obsolescence of entries (e.g. duplicated entities, diseases that are not rare anymore). • Deprecation of entities when an entity no longer exists per se but has been recognised as being another entity. In this case, information regarding the deprecated entity is moved and the users are redirected to the target entry. Data collection As new scientific knowledge arises, the Orphanet rare diseases inventory is updated through the regular addition/update of diseases via two non-exclusive sources: documented sources and/or expert advice. The scientific knowledge is monitored through: • A bi-monthly analysis of a defined set of international peer-reviewed scientific journals covering the diversity of medical specialities represented in Orphanet. • A monthly Medline search algorithm: (nosology[Title] OR classification[Title] OR nomenclature[Title] OR terminology[Title]) AND (rare disease* OR syndrome* OR disorder*). • Specific Medline queries according to requests from experts, users of the database or needs arising from services newly registered in Orphanet (e.g. diagnostic test, expert centre, patient organisation). Update of the inventory of rare diseases is assessed monthly by a medical and scientific committee within Orphanet and further validated by consulted experts. Data presentation Preferred names and synonyms of diseases are listed by alphabetical order with their ORPHA number. Deprecated entities are listed with the ORPHA number to be used preceded by the sign “→ “. A table in annex lists the name of the rare disease and its ORPHA number to be used instead of the deprecated entries. Obsolete entries are not listed here. In the case of duplicates, the nomenclature of the obsolete entry has been added to the rare disease listed here. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 2 Rare diseases listed in alphabetical order ORPHA Disease name number 289157 1-alpha-hydroxylase deficiency 976 2,8-dihydroxyadenine urolithiasis 79154 2-aminoadipic 2-oxoadipic aciduria 391417 2-methyl-3-hydroxybutyric aciduria 391428 391428 391457 391417 391428 391428 391457 79095 79157 79157 255182 869 2616 2671 79301 20 20 35701 939 134 6 67046 111 67047 67048 66634 352328 67046 2-methyl-3-hydroxybutyric aciduria, classic type 2-methyl-3-hydroxybutyric aciduria, infantile type 2-methyl-3-hydroxybutyric aciduria, neonatal type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type 2-methylacyl-CoA racemase deficiency 2-methylbutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2-oxoglutarate complex deficiency 2A syndrome 3-M syndrome 3-Phosphoglycerate dehydrogenase deficiency, neonatal form 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxyisobutyric aciduria 3-ketothiolase deficiency 3-methylcrotonylglycinuria 3-methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 2 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria type 5 3-methylglutaconic aciduria with deafness - encephalopathy - Leighlike syndrome 3-methylglutaconyl-CoA hydratase deficiency ORPHA number 79351 79350 869 7 2616 293843 67046 2118 2118 22 2118 869 88637 250977 217064 217064 240839 33572 99135 13 818 168588 320 752 752 752 99763 99763 881 881 1772 1772 1772 1772 243 2973 2975 243 243 2138 Disease name 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form 3-phosphoserine phosphatase deficiency 3A syndrome 3C syndrome 3M syndrome 3MC syndrome 3MG-CoA hydratase deficiency 4-HPPD deficiency 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxybutyric aciduria 4-hydroxyphenylpyruvic acid dioxygenase deficiency 4A syndrome 4H syndrome 5-amino-4-imidazole carboxamide ribosiduria 5-fluorouracil intoxication 5-fluorouracil poisoning 5-fluorouracil toxicity 5-oxoprolinase deficiency 6-phosphogluconate dehydrogenase deficiency 6-pyruvoyl-tetrahydropterin synthase deficiency 7-dehydrocholesterol reductase deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 1 11-beta-hydroxysteroid dehydrogenase deficiency type 2 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17-ketoreductase deficiency 17-ketosteroidreductase deficiency 18-hydroxylase deficiency 18-oxidase deficiency 45,X syndrome 45,X/46,XX syndrome 45,X/46,XY MGD 45,X/46,XY mixed gonadal dysgenesis 45,X0/46,XY MGD 45,X0/46,XY mixed gonadal dysgenesis 46,XX complete gonadal dysgenesis 46,XX disorder of sex development - anorectal anomalies 46,XX disorder of sex development - skeletal anomalies 46,XX gonadal dysgenesis 46,XX ovarian dysgenesis 46,XX ovotesticular DSD ORPHA number 2138 243 393 393 199310 242 753 755 325448 96265 96265 96265 96265 755 325448 96266 96266 96266 251510 242 96266 96266 96266 168558 752 753 755 Disease name 46,XX ovotesticular disorder of sex development 46,XX pure gonadal dysgenesis 46,XX testicular DSD 46,XX testicular disorder of sex development 46,XX/46,XY chimerism 46,XY CGD 46,XY DSD due to 5-alpha-reductase 2 deficiency 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to LHB deficiency 46,XY DSD due to complete LH receptor inactivation 46,XY DSD due to complete LH resistance 46,XY DSD due to complete luteinizing hormone receptor inactivation 46,XY DSD due to complete luteinizing hormone resistance 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY DSD due to partial LH receptor inactivation 46,XY DSD due to partial LH resistance 46,XY DSD due to partial luteinizing hormone resistance 46,XY PGD 46,XY complete gonadal dysgenesis 46,XY disorder of sex developement due to partial LH receptor inactivation 46,XY disorder of sex developement due to partial LH resistance 46,XY disorder of sex developement due to partial luteinizing hormone resistance 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 3 ORPHA number 325448 96265 96265 96265 96265 90796 755 325448 168563 325345 325345 251510 251510 242 3375 8 9 96263 10 99329 11 96264 261534 99330 293948 401986 1606 250989 250994 250999 250999 238769 363680 261349 261349 163693 163693 Disease name 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to complete LH receptor inactivation 46,XY disorder of sex development due to complete LH resistance 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY disorder of sex development due to isolated 17,20 lyase deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency 46,XY gonadal dysgenesis - motor and sensory neuropathy 46,XY ovotesticular DSD 46,XY ovotesticular disorder of sex development 46,XY partial gonadal dysgenesis 46,XY partial testicular dysgenesis 46,XY pure gonadal dysgenesis 47,XXX syndrome 47,XYY syndrome 48,XXXX syndrome 48,XXXY syndrome 48,XXYY syndrome 48,XYYY syndrome 49,XXXXX syndrome 49,XXXXY syndrome 49,XXXYY syndrome 49,XYYYY syndrome 1p21.3 microdeletion syndrome 1p31p32 microdeletion syndrome 1p36 deletion syndrome 1q21.1 microdeletion syndrome 1q21.1 microduplication syndrome 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome 1q44 microdeletion syndrome 2p13.2 microdeletion syndrome 2p15-p16.1 microdeletion syndrome 2p15p16.1 microdeletion syndrome 2p21 deletion syndrome 2p21 microdeletion syndrome ORPHA number 369881 228402 313947 1617 251014 294026 251019 251019 251028 1001 65286 65286 1621 96095 356947 356947 397695 65286 251038 280 96072 238750 329802 86841 228384 314655 228415 96125 251046 96125 75857 171829 251056 314034 96121 251061 96092 168953 251066 251071 251076 228399 2496 284160 178303 261112 261112 324313 96147 96147 352665 Disease name 2p21 microdeletion syndrome without cystinuria 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome 2q24 microdeletion syndrome 2q31.1 microdeletion syndrome 2q31.1 microduplication syndrome 2q32-q33 microdeletion syndrome 2q32q33 microdeletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3q subtelomere deletion syndrome 3qter deletion 3q13 microdeletion syndrome 3q26 microduplication syndrome 3q26-q27microdeletion syndrome 3q26q27 microdeletion syndrome 3q27.3 microdeletion syndrome 3q29 microdeletion syndrome 3q29 microduplication 4p- syndrome 4p16.3 microduplication syndrome 4q21 microdeletion syndrome 5p13 microduplication syndrome 5q- syndrome 5q14.3 microdeletion syndrome 5q31.3 microdeletion syndrome 5q35 microduplication syndrome 6p subtelomeric deletion syndrome 6p22 microdeletion syndrome 6p25 microdeletion syndrome 6q terminal deletion syndrome 6q16 deletion syndrome 6q25 microdeletion syndrome 7p22.1 microduplication syndrome 7q11.23 microduplication syndrome 7q31 microdeletion syndrome 8p inverted duplication/deletion syndrome 8p11 myeloproliferative syndrome 8p11.2 deletion syndrome 8p23.1 microdeletion syndrome 8p23.1 microduplication syndrome 8q12 microduplication syndrome 8q13 microdeletion syndrome 8q21.11 microdeletion syndrome 8q22.1 microdeletion syndrome 9p deletion syndrome 9p- syndrome 9p13 microdeletion syndrome 9q subtelomeric deletion syndrome 9qSTDS 9q21 microdeletion syndrome ORPHA number 401923 284169 284169 276413 276422 1307 52022 300305 313884 280325 94063 289513 412035 1590 261120 261229 261144 1102 264200 264200 401935 314585 238446 238446 261183 238446 238446 199318 261190 94065 1596 363992 261211 261211 261204 261236 261243 96078 352629 261250 Disease name 9q31.1q31.3 microdeletion syndrome 10p11.21p12.31 microdeletion syndrome 10p12p11 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome 10q22.3q23.3 microduplication syndrome 10q24 microduplication syndrome 11p11.2 deletion 11p15.4 microduplication syndrome 12p12.1 microdeletion syndrome 12p13.33 microdeletion syndrome 12q14 microdeletion syndrome 12q15q21.1 microdeletion syndrome 13q12.3 microdeletion syndrome 13q32 deletion 14q11.2 microdeletion syndrome 14q11.2 microduplication syndrome 14q12 microdeletion syndrome 14q22 microdeletion syndrome 14q22-q23 microdeletion syndrome 14q22q23 microdeletion syndrome 14q24.1q24.3 microdeletion syndrome 15q overgrowth syndrome 15q11-q13 duplication syndrome 15q11-q13 microduplication syndrome 15q11.2 microdeletion syndrome 15q11q13 duplication syndrome 15q11q13 microduplication syndrome 15q13.3 microdeletion syndrome 15q14 microdeletion syndrome 15q24 microdeletion syndrome 15q26 deletion syndrome 15q26.3 microdeletion syndrome 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome 16p11.2p12.2 microduplication syndrome 16p13.11 microdeletion syndrome 16p13.11 microduplication syndrome 16p13.3 microduplication syndrome 16q24.1 microdeletion syndrome 16q24.3 microdeletion syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 4 ORPHA Disease name number 819 17p11.2 microdeletion syndrome 1713 217385 217385 97685 139474 261265 261272 363958 217340 261279 261279 1598 1600 254346 357001 217346 313781 261295 313781 363659 261311 574 574 261323 261323 268261 268261 567 567 1727 48652 98829 402020 370026 102724 402017 17p11.2 microduplication syndrome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome 17q11 microdeletion syndrome 17q11.2 microduplication syndrome 17q12 microdeletion syndrome 17q12 microduplication syndrome 17q21.31 microdeletion syndrome 17q21.31 microduplication syndrome 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome 18p- syndrome 18q- syndrome 19p13.12 microdeletion syndrome 19p13.13 microdeletion syndrome 19q13.11 microdeletion syndrome 20p subtelomeric deletion syndrome 20p12.3 microdeletion syndrome 20p13 microdeletion syndrome 20q11.2 microduplication syndrome 20q13.33 microdeletion syndrome 21q deletion syndrome 21q- syndrome 21q22.11-q22.12 microdeletion syndrome 21q22.11q22.12 microdeletion syndrome 21q22.13-q22.2 microdeletion syndrome 21q22.13q22.2 microdeletion syndrome 22q11DS 22q11.2 deletion syndrome 22q11.2 microduplication syndrome 22q13 deletion 'AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)' 'AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)' 'AML with t(8;16)(p11;p13) translocation' 'AML with t(8;21)(q22;q22) translocation' 'AML with t(9;11)(p22;q23)' ORPHA number 520 402014 402023 869 35708 91385 100055 100055 1414 284460 915 1974 3163 915 124 916 124 916 240841 69663 →897 2970 800 14 920 99089 99050 1164 921 69739 2310 99112 1658 289465 1658 99112 101206 99048 980 99114 99114 99114 93322 Disease name 'AML with t(15;17)(q22;q12);(PML/RARalpha) and variants' 'AMLa with t(6;9)(p23;q34)' 'Megakaryoblastic AML with t(1;22)(p13;q13)' AAA syndrome AADC deficiency AAE AAE 2 AAE II Aagenaes syndrome AAOR Aarskog syndrome Aarskog-like syndrome Aarskog-Ose-Pande syndrome Aarskog-Scott syndrome Aase syndrome Aase-Smith I syndrome Aase-Smith II syndrome Aase-Smith syndrome Abacavir toxicity ABCB4 gene mutation-associated cholelithiasis ABCD syndrome Abdominal muscle deficiency syndrome Aberfeld syndrome Abetalipoproteinemia Ablepharon macrostomia syndrome Abnormal number of coronary ostia Abnormal origin of right or left pulmonary artery from the aorta ABPA Abruzzo-Erickson syndrome ABSD Absence deformity of leg - cataract Absence of brachiocephalic vein Absence of dermatoglyphics congenital milia Absence of fingerprints Absence of fingerprints - congenital milia Absence of innominate vein Absence of pulmonary valve Fallot's tetralogy - absence of ductus arteriosus Absence of pulmonary valve ventricular septal defect - persistent ductus arteriosus Absence of the pulmonary artery Absence of the superior caval vein Absence of the superior vena cava Absence of the SVC Absence of tibia ORPHA Disease name number 2879 Absence of ulna and fibula 96269 Absence of vagina 294986 Absent foot 295107 Absent foot, bilateral 295105 Absent foot, unilateral 294983 Absent hand 295103 Absent hand, bilateral 295101 Absent hand, unilateral Absent patellae - scrotal hypoplasia 85201 - renal anomalies - facial 2951 988 3328 99901 42 26792 945 67043 79468 300504 90301 926 561 180182 99061 141096 674 95462 210122 48818 99736 99736 2008 929 930 869 →869 294983 295103 295101 931 931 49382 932 93299 dysmorphism - intellectual disability Absent thumb - short stature immunodeficiency Absent tibia - polydactyly Absent tibia - polydactyly arachnoid cyst ACAD9 deficiency ACADM deficiency ACADS deficiency Acalvaria Acanthamoeba keratitis Acanthokeratolytic verrucous nevus Acanthoma of the nail matrix Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement Acatalasemia Accelerated skeletal maturation peculiar facies - failure to thrive Accessory breasts Accessory mitral valve tissue Accessory nostril Accessory pancreas Accessory tricuspid valve tissue ACDMPV Aceruloplasminemia Acetazolamide-responsive congenital myotonia Acetazolamide-responsive myotonia ACFS Achalasia - microcephaly Achalasia cardia Achalasia-addisonianism-alacrima syndrome Achalasia-alacrimia syndrome Acheiria Acheiria, bilateral Acheiria, unilateral Acheiropodia Acheiropody ACHM Achondrogenesis Achondrogenesis type 1A → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 5 ORPHA Disease name number 93298 Achondrogenesis type 1B 93296 Achondrogenesis type 2 93299 93296 93298 15 935 935 935 49382 355 35121 424046 40366 79099 2561 43115 252175 252175 252175 65759 65798 3128 3128 306431 90065 91385 100056 100055 91385 100056 100055 91385 91385 95626 95626 91365 228285 46487 98818 79086 228247 231401 Achondrogenesis, Houston-Harris type Achondrogenesis, Langer-Saldino type Achondrogenesis, Parenti-Fraccaro type Achondroplasia Achondroplasia-SCID syndrome Achondroplasia-severe combined immunodeficiency syndrome Achondroplasia-Swiss type agammaglobulinemia syndrome Achromatopsia Acid beta-glucosidase deficiency Acid phosphatase deficiency Acinar cell carcinoma of pancreas Acitretin/etretinate embryopathy Ackerman dermatitis syndrome Ackerman syndrome Aconitase deficiency Acoustic neurilemoma Acoustic neurinoma Acoustic neuroma ACPS 2 ACPS 4 ACPS III ACPS with leg hypoplasia Acquired adult-onset immunodeficiency Acquired aneurysmal subarachnoid hemorrhage Acquired angioedema Acquired angioedema type 1 Acquired angioedema type 2 Acquired angioneurotic edema Acquired angioneurotic edema type 1 Acquired angioneurotic edema type 2 Acquired bradykinine-induced angioedema Acquired C1 inhibitor deficiency Acquired CDI Acquired central diabetes insipidus Acquired ciliary dyskinesia Acquired cutis laxa Acquired epidermolysis bullosa Acquired epileptic aphasia Acquired generalized lipodystrophy Acquired Gronblad-StrandbergTouraine syndrome Acquired HbH disease ORPHA Disease name number 231401 Acquired hemoglobin H disease Acquired hemophagocytic 158057 lymphohistiocytosis associated with 73274 2221 26348 454 75564 404514 37559 79086 589 391490 95626 84142 91385 314697 729 26348 228247 49566 228247 206575 93585 93585 99147 99147 263534 97360 158673 263534 90396 263534 281127 281127 945 2008 978 1784 2211 2211 2980 85203 a malignant disease Acquired hemophilia Acquired hypertrichosis lanuginosa Acquired hypoprothrombinemia Acquired ichthyosis Acquired idiopathic sideroblastic anemia Acquired kidney disease-associated renal cell carcinoma Acquired kinky hair syndrome Acquired lipoatrophic diabetes Acquired myasthenia Acquired myasthenia gravis Acquired neurogenic diabetes insipidus Acquired neuromyotonia Acquired non histamine-induced angioedema Acquired porencephaly Acquired primary erythocytosis Acquired prothrombin deficiency Acquired pseudoxanthoma elasticum Acquired purpura fulminans Acquired PXE Acquired rippling muscle disease Acquired thrombotic thrombocytopenic purpura Acquired TTP Acquired von Willebrand disease Acquired von Willebrand syndrome Acral deciduous skin Acral dysostosis with facial and genital abnormalities Acral dystrophic epidermolysis bullosa Acral peeling skin syndrome Acral persistent papular mucinosis Acral PSS Acral self-healing collodion baby Acral SHCB Acrania Acro-cardio-facial syndrome Acro-dermato-ungual-lacrimaltooth syndrome Acro-fronto-facio-nasal dysostosis Acro-fronto-facio-nasal dysostosis type 2 Acro-fronto-facio-nasal syndrome type 2 Acro-oto-ocular syndrome Acro-pectoral syndrome ORPHA Disease name number 956 Acro-pectoro-renal dysplasia 958 Acro-renal-mandibular syndrome 959 Acro-renal-ocular syndrome 36 63446 221054 221054 65759 3128 65798 87 794 710 63440 949 955 163931 37 280651 2956 1786 246 64542 1787 1788 952 2500 2500 38 166113 166113 79151 965 963 →2796 39 1827 968 2098 968 40 2500 969 Acrocallosal syndrome Acrocapitofemoral dysplasia Acrocephalopolydactylous dysplasia Acrocephalopolydactyly Acrocephalopolysyndactyly type 2 Acrocephalopolysyndactyly type 3 Acrocephalopolysyndactyly type 4 Acrocephalosyndactyly type 1 Acrocephalosyndactyly type 3 Acrocephalosyndactyly type 5 Acrocephaly Acrocraniofacial dysostosis Acrodentoosteodysplasia Acrodermatitis continua suppurativa of Hallopeau Acrodermatitis enteropathica Acrodysostosis with multiple hormone resistance Acrodysplasia scoliosis Acrofacial dysostosis, Catania type Acrofacial dysostosis, GeneeWiedmann type Acrofacial dysostosis, KennedyTeebi type Acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Rodríguez type Acrofacial dysostosis, Weyers type Acrogeria Acrogeria, Gottron type Acrokeratoelastoidosis of Costa Acrokeratosis of Bazex Acrokeratosis paraneoplastica Acrokeratosis verruciformis of Hopf Acromegaloid facial appearance syndrome Acromegaly Acromegaly-cutis verticis gyratacorneal leukoma syndrome Acromelanosis Acromelic frontonasal dysplasia Acromesomelic dwarfism Acromesomelic dysplasia, Grebe type Acromesomelic dysplasia, HunterThomson type Acromesomelic dysplasia, Maroteaux type Acrometageria Acromicric dysplasia → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 6 ORPHA Disease name number 955 Acroosteolysis dominant type 955 363665 957 41 1133 971 85203 36 87 794 710 361 189427 98904 254395 254395 330061 163696 397596 101089 73423 95409 95409 95409 73423 99870 284460 86849 69736 98837 2901 83597 83597 163703 363549 279888 318 243367 3243 293173 Acroosteolysis with osteoporosis and changes in skull and mandible Acroosteolysis-keloid-like lesionspremature aging syndrome Acropectorovertebral dysplasia Acropigmentation of Dohi Acrorenal defect - ectodermal dysplasia - diabetes Acrorenal syndrome ACRP syndrome ACS ACS1 ACS3 ACS5 ACTH resistance ACTH-independent macronodular adrenal hyperplasia Actin myopathy Actinic lichen planus Actinic LP Actinic prurigo Action myoclonus - renal failure syndrome Activated PIK3-delta syndrome Activation-induced cytidine deaminase deficiency Acute ackee fruit intoxication Acute adrenal failure Acute adrenal insufficiency Acute adrenocortical insufficiency Acute akee fruit intoxication Acute and disseminated Langerhans cell histiocytosis Acute annular outer retinopathy Acute basophilic leukemia Acute bilateral depigmentation of the iris Acute biphenotypic leukemia Acute brachial plexus neuritis Acute disseminated encephalitis Acute disseminated encephalomyelitis Acute encephalitis with refractory repetitive partial seizures Acute encephalopathy with biphasic seizures and late reduced diffusion Acute endophthalmitis Acute erythroid leukemia Acute fatty liver of pregnancy Acute febrile neutrophilic dermatosis Acute generalized exanthematous pustulosis ORPHA Disease name number 99920 Acute graft versus host disease 90062 Acute hepatic failure 98916 363549 217371 217371 370088 98916 98916 79276 79126 79126 73423 90062 178320 518 99887 329469 514 514 98918 98917 98917 98917 228157 228157 98833 98834 520 514 318 518 98834 98833 86843 Acute idiopathic demyelinating polyneuropathy Acute infantile encephalopathy predominantly affecting the frontal lobes Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Acute infantile liver failuremultisystemic involvement syndrome Acute inflammatory demyelinating polyradiculoneuropathy Acute inflammatory polyneuropathy Acute intermittent porphyria Acute interstitial pneumonia Acute interstitial pneumonitis Acute intoxication by Blighia sapida Acute liver failure Acute lung injury Acute megakaryoblastic leukemia Acute megakaryoblastic leukemia in Down syndrome Acute megakaryoblastic leukemia without Down syndrome Acute monoblastic leukemia Acute monocytic leukemia Acute motor axonal neuropathy Acute motor-sensory axonal GBS Acute motor-sensory axonal Guillain-Barré syndrome Acute motor-sensory axonal neuropathy Acute multiple sclerosis, Marburg type Acute multiple sclerosis, Marburg variant Acute myeloblastic leukemia type 1 Acute myeloblastic leukemia type 2 Acute myeloblastic leukemia type 3 Acute myeloblastic leukemia type 5 Acute myeloblastic leukemia type 6 Acute myeloblastic leukemia type 7 Acute myeloblastic leukemia with maturation Acute myeloblastic leukemia without maturation Acute myelodysplasia with myelofibrosis ORPHA Disease name number 86843 Acute myelofibrosis Acute myeloid leukemia and 102379 myelodysplastic syndromes related 164726 102381 98831 98829 319480 402020 86845 402026 402014 370026 102724 402017 520 517 86843 263524 247546 247546 77260 163703 35889 231457 231457 231457 231457 86843 90064 to alkylating agent Acute myeloid leukemia and myelodysplastic syndromes related to radiation Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Acute myeloid leukemia with 11q23 abnormalities Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Acute myeloid leukemia with CEBPA somatic mutations Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) Acute myeloid leukemia with multilineage dysplasia Acute myeloid leukemia with NPM1 somatic mutations Acute myeloid leukemia with t(6;9)(p23;q34) Acute myeloid leukemia with t(8;16)(p11;p13) translocation Acute myeloid leukemia with t(8;21)(q22;q22) translocation Acute myeloid leukemia with t(9;11)(p22;q23) Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants Acute myelomonocytic leukemia Acute myelosclerosis Acute necrotizing encephalopathy of childhood Acute neonatal citrullinemia type 1 Acute neonatal citrullinemia type I Acute neuronopathic Gaucher disease Acute non-herpetic encephalitis with severe refractory status epilepticus Acute opioid poisoning Acute panautonomic GBS Acute panautonomic Guillain-Barré syndrome Acute panautonomic neuropathy Acute pandysautonomia Acute panmyelosis with myelofibrosis Acute peripheral arterial occlusion → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 7 ORPHA number 43119 520 98918 98918 231450 231450 231450 3099 90059 231466 231466 231466 139417 43117 91500 98835 284454 137754 141 99901 99736 99736 93608 428 314889 169189 1810 2314 277 295118 295116 295114 973 216796 55881 974 88619 314404 90348 86814 85138 95409 Disease name Acute poisoning by drugs with membrane-stabilizing effect Acute promyelocytic leukemia Acute pure motor GBS Acute pure motor Guillain-Barré syndrome Acute pure sensory GBS Acute pure sensory Guillain-Barré syndrome Acute pure sensory neuropathy Acute rheumatic fever Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma Acute sensory ataxic GBS Acute sensory ataxic Guillain-Barré syndrome Acute sensory ataxic neuropathy Acute transverse myelitis Acute tricyclic antidepressant poisoning Acute tubulointerstitial nephritis and uveitis syndrome Acute undifferentiated leukemia Acute zonal occult outer retinopathy ACY1D ACY2 deficiency Acyl-CoA dehydrogenase 9 deficiency ACZ-responsive congenital myotonia ACZ-responsive myotonia AD dRTA AD hypocalcemia AD pRTA AD-CNM AD-HED AD-HIES ADA deficiency Adactyly of foot, bilateral Adactyly of foot, unilateral Adactyly of hand, bilateral Adactyly of hand, unilateral Adair-Dighton syndrome Adamantinoma Adams-Oliver syndrome ADANE ADCA-DN ADCL ADCME Addison disease Addisonian crisis ORPHA number 2953 2952 2953 101046 83597 976 424016 99976 424991 424991 424943 424943 213504 363478 398053 104075 104075 213772 95512 213828 213823 213741 93292 26790 213792 213600 45 28 91127 46 46 137817 89937 36397 36397 36397 289290 101046 178464 98784 329211 Disease name Adducted thumb-clubfoot syndrome Adducted thumbs-arthrogryposis syndrome, Christian type Adducted thumbs-arthrogryposis syndrome, Dundar type ADEAF ADEM Adenine phosphoribosyltransferase deficiency Adenocarcinoma of anal canal Adenocarcinoma of esophagus Adenocarcinoma of gallbladder and EBT Adenocarcinoma of gallbladder and extrahepatic biliary tract Adenocarcinoma of liver and IBT Adenocarcinoma of liver and intrahepatic biliary tract Adenocarcinoma of ovary Adenocarcinoma of paratestis Adenocarcinoma of penis Adenocarcinoma of small bowel Adenocarcinoma of small instestine Adenocarcinoma of the cervix uteri Adenohypophysitis Adenoid basal carcinoma of the cervix uteri Adenoid cystic carcinoma of the cervix uteri Adenoid cystic carcinoma of the corpus uteri Adenoma of pancreas Adenomucinosis Adenosarcoma of the cervix uteri Adenosarcoma of the corpus uteri Adenosine monophosphate deaminase deficiency Adenosylcobalamin deficiency Adenovirus infection in immunocompromised patients Adenylosuccinase deficiency Adenylosuccinate lyase deficiency Adhesive arachnoiditis ADHR Adiposalgia Adipose tissue rheumatism Adiposis dolorosa ADK hypermethioninemia ADLTE ADMERF ADNFLE ADNIV ORPHA number Disease name ADNP-related multiple congenital 404448 anomalies-intellectual disability1544 306588 36355 2924 101046 254892 95409 463 869 1501 231625 95409 99889 189427 139399 977 228169 46 70578 70578 93605 157846 874 2666 309169 210159 874 210159 247676 2688 178487 178487 178487 178487 206448 79262 79262 247676 206583 902 99874 98872 autism spectrum disorder Adolescent benign focal crisis ADOS ADP platelet receptor P2Y12 defect ADPCLD ADPEAF adPEO Adrenal crisis Adrenal incidentaloma Adrenal insufficiency-achalasiaalacrima Adrenocortical carcinoma Adrenocortical carcinoma with pure aldosterone hypersecretion Adrenocortical crisis Adrenocorticotropic hormone secretion syndrome Adrenocorticotropic hormoneindependent macronodular adrenal hyperplasia Adrenomyeloneuropathy Adrenomyodystrophy ADSD ADSL deficiency Adult acute respiratory distress syndrome Adult ARDS Adult Bartter syndrome Adult basal ganglia disease Adult cardiac tumor Adult familial nephronophthisis spastic quadriparesia Adult GM2 gangliosidosis 0 variant Adult HCC Adult heart tumor Adult hepatocellular carcinoma Adult hypophosphatasia Adult idiopathic neutropenia Adult intestinal botulism Adult intestinal colonization botulism Adult intestinal toxemia botulism Adult intestinal toxin-mediated botulism Adult Krabbe disease Adult NCL Adult neuronal ceroid lipofuscinosis Adult phosphoethanolaminuria Adult polyglucosan body disease Adult progeria Adult pulmonary Langerhans cell histiocytosis Adult pure red cell aplasia → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 8 ORPHA Disease name number 247676 Adult Rathburn disease 978 ADULT syndrome 86875 Adult T-cell leukemia/lymphoma ORPHA number 391490 Adult-onset acquired myasthenia 209335 79280 391490 99027 284289 255132 420492 329336 247585 247573 247585 247573 247585 329336 411641 329478 199351 99000 99000 99000 79257 306431 313808 329314 329314 171442 276608 35689 Adult-onset Alpha-Nacetylgalactosaminidase deficiency Adult-onset autoimmune myasthenia gravis Adult-onset autosomal dominant leukodystrophy Adult-onset autosomal recessive cerebellar ataxia Adult-onset autosomal recessive sideroblastic anemia Adult-onset cervical dystonia, DYT23 type Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset citrin deficiency Adult-onset citrullinemia type 1 Adult-onset citrullinemia type 2 Adult-onset citrullinemia type I Adult-onset citrullinemia type II Adult-onset CPEO with mitochondrial myopathy Adult-onset cystinosis Adult-onset distal myopathy due to VCP mutation Adult-onset dystonia-parkinsonism Adult-onset foveomacular dystrophy Adult-onset foveomacular dystrophy with choroidal neovascularization Adult-onset foveomacular vitelliform dystrophy Adult-onset GM1 gangliosidosis Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency Adult-onset nemaline myopathy Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia Adult-onset PLS 35689 829 99000 3086 682 37 1071 281139 163703 363549 178345 37 220460 313772 243367 398147 139507 101334 3385 33110 83617 388 35704 180142 52055 99114 99114 99114 293173 873 86873 86873 98850 989 990 824 100070 100070 2131 Disease name Adult-onset primary lateral sclerosis Adult-onset proximal spinal muscular atrophy, autosomal dominant Adult-onset Still disease Adult-onset vitelliform macular dystrophy ADVIRC Adynamia episodica hereditaria AE AEC syndrome AEI AERRPS AESD AEXS AEZ AFAP AFG3L2-related spastic ataxianeuropathy syndrome AFLP AFP African iron overload African tick typhus African trypanosomiasis Agammaglobulinemia, non-Bruton type Agammaglobulinemiamicrocephaly-craniosynostosissevere dermatitis syndrome Aganglionic megacolon AGAT deficiency Agenesis and aplasia of uterine body Agenesis of the corpus callosumintellectual disability-colobomamicrognathia syndrome Agenesis of the superior caval vein Agenesis of the superior vena cava Agenesis of the SVC AGEP Aggressive fibromatosis Aggressive NK-cell leukemia Aggressive NK-cell lymphoma Aggressive systemic mastocytosis Aglossia-adactylia syndrome Agnathia-holoprosencephaly-situs inversus syndrome Agnogenic myeloid metaplasia Agramatic variant of PPA Agramatic variant of primary progressive aphasia AHC ORPHA number Disease name AHDC1-related intellectual 412069 disability-obstructive sleep apnea- mild dysmorphism syndrome AHDS 50812 Ahn-Lerman-Sagie syndrome 79443 AHO - PHP Ia 79445 AHO - PPHP 2134 aHUS 93581 aHUS with anti-factor H antibodies 93578 aHUS with B factor anomaly 93575 aHUS with C3 anomaly 357008 aHUS with DGKE deficiency 93579 aHUS with H factor anomaly 93580 aHUS with I factor anomaly 93576 aHUS with MCP/CD46 anomaly aHUS with thrombomodulin 217023 anomaly 250977 AICA-ribosiduria 50 Aicardi syndrome 51 Aicardi-Goutières syndrome 101089 AID deficiency 98916 AIDP 90081 AIDS wasting syndrome 178333 AIED 363549 AIEF 86886 AILT 189427 AIMAH 103919 AIP 280302 AIP type 1 280315 AIP type 2 75564 AISA 33355 AK2 deficiency 38 AKE 79482 Akesson syndrome 85443 AL amyloidosis 2232 Al Awadi-Farag-Teebi syndrome Al Awadi-Raas-Rothschild 2879 syndrome 1102 Al Frayh-Facharzt-Haque syndrome 2725 Al Gazali-Al Talabani syndrome 2865 Al Gazali-Aziz-Salem syndrome 2153 Al Gazali-Donnai-Muller syndrome 2725 Al Gazali-Lytle syndrome 2773 Al Gazali-Nair syndrome →324737 Al-Gazali-Dattani syndrome Alacrimia-choreoathetosis-liver 404454 dysfunction syndrome 100924 ALAD porphyria 52 Alagille syndrome Alagille syndrome due to 20p12 261600 microdeletion Alagille syndrome due to a JAG1 261619 point mutation 59 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 9 ORPHA number 261629 261600 261600 52 261619 261629 261600 178333 2007 53 918 998 665 79443 79445 1001 1001 98841 60039 1915 1915 36899 43 324977 35664 99763 99764 99764 369929 369929 85332 158799 58 Disease name Alagille syndrome due to a NOTCH2 point mutation Alagille syndrome due to del(20)(p12) Alagille syndrome due to monosomy 20p12 Alagille-Watson syndrome Alagille-Watson syndrome due to a JAG1 point mutation Alagille-Watson syndrome due to a NOTCH2 point mutation Alagille-Watson syndrome due to monosomy 20p12 Åland Islands eye disease Alar cartilages hypoplasiacoloboma-telecanthus syndrome Albers-Schönberg osteopetrosis Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome Albinism-deafness syndrome Albright hereditary osteodystrophy Albright hereditary osteodystrophy - PHP Ia Albright hereditary osteodystrophy - PPHP Albright hereditary osteodystrophy type 3 Albright hereditary osteodystrophylike syndrome ALCL Alcock syndrome Alcohol-related birth defects Alcohol-related neurodevelopmental disorder Alcohol-responsive dystonia ALD ALDD syndrome ALDH18A1-related De Barsy syndrome Aldosterone synthase deficiency Aldosterone synthase deficiency unrelated to CYP11B2 Aldosterone synthase deficiency unrelated to the aldosterone synthase gene Aldosterone-producing adenoma with seizures and neurological abnormalities Aldosterone-secreting adenoma with seizures and neurological abnormalities Aldred syndrome Aleukemic mast cell leukemia Alexander disease ORPHA Disease name number 363717 Alexander disease type I 363722 Alexander disease type II 261112 Alfi syndrome 79327 79326 79321 79320 79325 79328 280071 79324 324422 99995 300895 300895 364043 364043 300903 300903 300903 300895 364043 56 59 1164 1164 869 69063 240845 93925 1006 700 701 2316 1005 202 2574 1008 →3464 2850 1014 ALG1-CDG ALG2-CDG ALG3-CDG ALG6-CDG ALG8-CDG ALG9-CDG ALG11-CDG ALG12-CDG ALG13-CDG Algodystrophy ALK+ ALCL ALK+ anaplastic large cell lymphoma ALK+ large B-cell lymphoma ALK+ LBCL ALK- ALCL ALK- anaplastic large cell lymphoma ALK-negative anaplastic large cell lymphoma ALK-positive anaplastic large cell lymphoma ALK-positive large B-cell lymphoma Alkaptonuria Allan-Herndon-Dudley syndrome Allergic aspergillosis Allergic bronchopulmonary aspergillosis Allgrove syndrome Alloimmune neonatal renal disease Allopurinol toxicity Alobar holoprosencephaly Alopecia antibody deficiency Alopecia totalis Alopecia universalis Alopecia-anosmia-deafnesshypogonadism syndrome Alopecia-contractures-dwarfismintellectual disability syndrome Alopecia-deafness-hypogonadism syndrome Alopecia-epilepsy-oligophrenia syndrome, Moynahan type Alopecia-epilepsy-pyorrheaintellectual disability syndrome Alopecia-hypogonadismextrapyramidal disorder syndrome Alopecia-intellectual disability syndrome Alopecia-intellectual disabilityhypergonadotropic hypogonadism syndrome ORPHA number 157954 726 726 726 734 734 134 721 98791 98791 365 308552 420429 93594 60 79154 399058 98910 324 100025 100025 31 349 579 61 309288 309282 134 79095 3137 79279 79280 79281 62 846 163596 93616 163596 Disease name Alopecia-progressive neurological defect-endocrinopathy syndrome Alpers progressive sclerosing poliodystrophy Alpers syndrome Alpers-Huttenlocher syndrome Alpha delta granule deficiency Alpha dense granule deficiency Alpha methylacetoacetic aciduria Alpha storage pool deficiency Alpha thalassemia-intellectual disability syndrome, deletion type Alpha thalassemia-retardation syndrome Alpha-1,4-glucosidase acid deficiency Alpha-1,4-glucosidase acid deficiency, infantile onset Alpha-1,4-glucosidase acid deficiency, late onset Alpha-1-antichymotrypsin deficiency Alpha-1-antitrypsin deficiency Alpha-aminoadipic aciduria Alpha-B crystallin-related lateonset distal myopathy Alpha-crystallinopathy Alpha-galactosidase A deficiency Alpha-HCD Alpha-heavy chain disease Alpha-ketoglutarate dehydrogenase deficiency Alpha-L-fucosidase deficiency Alpha-L-iduronidase deficiency Alpha-mannosidosis Alpha-mannosidosis, adult form Alpha-mannosidosis, infantile form Alpha-methyl-acetoacetyl-CoA thiolase deficiency Alpha-methyl-acyl-CoA racemase deficiency Alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase deficiency type 1 Alpha-N-acetylgalactosaminidase deficiency type 2 Alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-sarcoglycanopathy Alpha-thalassemia Alpha-thalassemia hydrops fetalis Alpha-thalassemia intermedia Alpha-thalassemia major → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 10 ORPHA number Disease name Alpha-thalassemia-intellectual 98791 disability syndrome linked to 231401 847 63 63 1984 1019 86818 3261 268114 268114 275517 803 357043 86815 313808 64 99971 2131 2131 210122 210122 284 99756 163699 163699 →1071 3354 306542 391474 228390 169095 79095 98918 65 1021 1023 294969 295059 295057 294967 295055 295053 chromosome 16 Alpha-thalassemia-myelodysplastic syndrome Alpha-thalassemia-X-linked intellectual disability syndrome Alport deafness-nephropathy Alport syndrome Alport syndrome with leukocyte inclusions and macrothrombocytopenia Alport syndrome with macrothrombocytopenia Alport syndrome-intellectual disability-midface hypoplasiaelliptocytosis syndrome ALPS ALPS type 4 ALPS type IV ALPS with recurrent viral infections ALS ALS4 ALSG ALSP Alström syndrome ALT Alternating hemiplegia in childhood Alternating hemiplegia of childhood Alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia with misalignment of pulmonary vessels Alveolar echinococcosis Alveolar rhabdomyosarcoma Alveolar soft-part sarcoma Alveolar soft-tissue sarcoma Alveolar synechia-ankyloblepharonectodermal dysplasia syndrome Alves-dos Santos-Castelo syndrome ALX1-related frontonasal dysplasia ALX3-related frontonasal dysplasia ALX4-related FNDAG Alymphoid cystic thymic dysgenesis AMACR deficiency AMAN Amaurosis congenita of Leber Amaurosis-hypertrichosis syndrome Ambras syndrome Amelia of lower limb Amelia of lower limb, bilateral Amelia of lower limb, unilateral Amelia of upper limb Amelia of upper limb, bilateral Amelia of upper limb, unilateral ORPHA number 1946 1028 314422 314419 88661 100031 100033 100032 100034 171836 1031 83595 3386 2116 141 1908 221120 1908 1245 171714 99742 98902 518 102379 164726 102381 98831 319480 86845 402026 514 318 86818 86818 251663 67 68 45 1035 66529 300557 Disease name Amelo-cerebro-hypohidrotic syndrome Amelo-onycho-hypohidrotic syndrome Ameloblastic carcinoma Ameloblastoma Amelogenesis imperfecta Amelogenesis imperfecta type 1 Amelogenesis imperfecta type 2 Amelogenesis imperfecta type 3 Amelogenesis imperfecta type 4 Amelogenesis imperfecta-gingival hyperplasia syndrome Amelogenesis imperfectanephrocalcinosis syndrome American mountain fever American trypanosomiasis Aminoaciduria, Hartnup type Aminoacylase 2 deficiency Aminopterin embryopathy syndrome Aminopterin syndrome-like sine aminopterin Aminopterin/methotrexate embryofetopathy Amish brittle hair syndrome Amish infantile epilepsy syndrome Amish lethal microcephaly Amish nemaline myopathy AMKL AML and myelodysplastic syndromes related to alkylating agent AML and myelodysplastic syndromes related to radiation AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor AML with 11q23 abnormalities AML with CEBPA somatic mutations AML with multilineage dysplasia AML with NPM1 somatic mutations AML-M5 AML-M6 AMME complex AMME syndrome aMOA Amoebiasis due to Entamoeba histolytica Amoebiasis due to free-living amoebae AMP deaminase deficiency Ampola syndrome Ampulla cardiomyopathy Ampullary carcinoma ORPHA Disease name number 300557 Ampulloma 98917 AMSAN 366 Amylo-1,6-glucosidase deficiency 49804 85445 319635 319635 85450 367 803 357043 94091 90020 90020 2615 228113 31150 761 251589 251646 251957 98841 251663 251630 142 251855 93347 79262 78 1496 37553 367 37553 37553 71 324 99916 329813 157954 263524 1044 1054 95484 284984 353344 Amyloid lichen Amyloidosis AA Amyloidosis cutis dyschromia Amyloidosis cutis dyschromica Amyloidosis, Ostertag type Amylopectinosis Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 4 Amyotrophic lateral sclerosis, hemiplegic type Amyotrophic lateral sclerosisparkinsonism-dementia complex Amyotrophic lateral sclerosisparkinsonism-dementia of Guam Amyotrophy-fat tissue anomaly syndrome Anal fistula Analphalipoproteinemia Anaphylactoid purpura Anaplastic astrocytoma Anaplastic ependymoma Anaplastic ganglioglioma Anaplastic large cell lymphoma Anaplastic oligoastrocytoma Anaplastic oligodendroglioma Anaplastic thyroid carcinoma Anaplastic/large cell medulloblastoma Anauxetic dysplasia ANCL Ancylostomiasis Andermann syndrome Andersen cardiodysrhythmic periodic paralysis Andersen disease Andersen syndrome Andersen-Tawil syndrome Anderson disease Anderson-Fabry disease Androblastoma Androgenetic/biparental mosaicism ANE syndrome ANEC Anemia due to adenosine triphosphatase deficiency Aneurysm of sinus of Valsalva Aneurysm or dilatation of ascending aorta Aneurysm-osteoarthritis syndrome Aneurysmal telangiectasia → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 11 ORPHA number 63442 72 411511 411515 98794 98794 98795 251671 86879 79093 98839 160 160 86886 324 95429 2346 75508 263413 74 98839 370039 76 76 238468 98813 69088 3022 1067 1064 1069 1065 1068 1070 86873 Disease name Angel-shaped phalango-epiphyseal dysplasia Angelman syndrome Angelman syndrome due to a point mutation Angelman syndrome due to imprinting defect in 15q11-q13 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to maternal monosomy 15q11q13 Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angiocentric glioma Angiocentric T-cell lymphoma Angiodysgenetic necrotizing myelopathy Angioendotheliomatosis proliferans systemisata Angiofollicular ganglionic hyperplasia Angiofollicular lymph hyperplasia Angioimmunoblastic T-cell lymphoma Angiokeratoma corporis diffusum Angioma serpiginosum Angioosteohypertrophic syndrome Angioosteohypotrophic syndrome Angiosarcoma Angiostrongyliasis Angiotropic large cell lymphoma Angora hair nevus Anguilluliasis Anguillulosis Anhidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia with immunodeficiency Anhidrotic ectodermal dysplasiaimmunodeficiency-osteopetrosislymphedema syndrome Anhidrotic ectodermic dysplasiacleft lip/palate syndrome Aniridia - ptosis - intellectual disability - familial obesity Aniridia - renal agenesis psychomotor retardation Aniridia-absent patella syndrome Aniridia-cerebellar ataxiaintellectual disability syndrome Aniridia-intellectual disability syndrome Anisakiosis ANKCL ORPHA number 1071 1074 1072 2206 1077 78 254411 254411 281139 254424 254424 675 229 99797 101932 99055 1094 90390 1487 94150 69125 →2470 →3157 1101 2470 1104 1106 77298 1882 93976 2987 93604 70596 178148 1931 Disease name Ankyloblepharon - ectodermal defects - cleft lip/palate Ankyloblepharon filiforme imperforate anus Ankyloblepharon filiforme adnatum - cleft palate Ankylosing vertebral hyperostosis with tylosis Ankylosis of teeth Ankylostomiasis Annular atrophic lichen planus Annular atrophic LP Annular epidermolytic ichthyosis Annular lichen planus Annular LP Annular pancreas Annuloaortic ectasia Anodontia Anomaly of the mitral subvalvular apparatus Anomaly of the tricuspid valve chordae Anonychia - microcephaly Anonychia - onychodystrophy Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges Anonychia congenita totalis Anonychia with flexural pigmentation Anophthalmia - heart and pulmonary anomalies - intellectual disability Anophthalmia - hypothalamopituitary insufficiency Anophthalmia - megalocornea cardiopathy - skeletal anomalies Anophthalmia - pulmonary hypoplasia Anophthalmia plus syndrome Anophthalmia-syndactyly syndrome Anophthalmia/microphthalmia esophageal atresia ANOTHER syndrome Anotia Antecubital pterygium syndrome Antenatal Bartter syndrome Antenatal Epstein-Barr virus infection Antenatal multiminicore disease with arthrogryposis multiplex congenita Anterior encephalocele ORPHA number 98961 98960 95512 98988 98988 90079 36412 375 375 2194 206569 81 639 206569 413667 2821 81 83 63269 →95699 63269 63269 1190 56305 1168 64753 99000 1190 70590 56305 1457 2037 60030 1110 2299 99079 →91387 95448 101043 99071 99070 3400 Disease name Anterior limiting membrane dystrophy type I Anterior limiting membrane dystrophy type II Anterior pituitary hypophysitis Anterior polar cataract Anterior subcapsular cataract Anthracycline extravasations Anti-C1q vasculitis Anti-GBM syndrome Anti-glomerular basement membrane disease Anti-HLA hyperimmunization Anti-HMG-CoA myopathy Anti-Jo1 syndrome Anti-MAG neuropathy Anti-SRP myopathy Antidepressant or antipsychotics toxicity or dose selection Antinolo-Nieto-Borrego syndrome Antisynthetase syndrome Antley-Bixler syndrome Antley-Bixler syndrome type 2 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Antley-Bixler syndrome, PORrelated Antley-Bixler-like syndrome ambiguous genitalia - disordered steroidogenesis AO1 AO3 AOA1 AOA2 AOFMD AOI AOI AOIII Aorta coarctation Aorta-pulmonary artery fistula Aortic aneurysm syndrome due to TGF-beta receptors anomalies Aortic arch anomaly - peculiar facies - intellectual disability Aortic arch interruption Aortic arch syndrome Aortic dilatation - joint hypermobility - arterial tortuosity Aortic valve atresia Aortic valve dysplasia Aorto-left ventricular tunnel Aorto-right ventricular tunnel Aorto-ventricular tunnel → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 12 ORPHA number 99086 2037 2037 974 284984 829 280763 369929 206583 247806 247806 247806 247806 397596 3453 87 162521 1112 1113 49 324540 324540 66529 324530 1117 1114 3339 1116 370046 86815 3329 2879 70590 99981 425 294986 295107 295105 Disease name Aortopulmonary coronary arterial course Aortopulmonary septal defect Aortopulmonary window AOS AOS AOSD AP4 deficiency syndrome APA with seizures and neurological abnormalities APBD APC-related AFAP APC-related attenuated familial adenomatous polyposis APC-related attenuated familial polyposis coli APC-related attenuated FAP APDS APECED syndrome Apert syndrome Apertura pyriformis with holoprosencephaly Aphalangy - hemivertebrae urogenital-intestinal dysgenesis Aphalangy - syndactyly microcephaly Aphallia Aphonia - deafness - retinal dystrophy - bifid halluces intellectual disability Aphonia - deafness - retinal dystrophy - duplicated halluces intellectual disability Apical ballooning syndrome APLAID Aplasia cutis - myopia Aplasia cutis congenita Aplasia cutis congenita - epibulbar dermoids Aplasia cutis congenita - intestinal lymphangiectasia Aplasia cutis congenita-nevus sebaceus syndrome Aplasia of lacrimal and salivary glands Aplasia of tibia with splithand/split-foot deformity Aplasia/hypoplasia of limbs and pelvis Apnea of infancy Apnea of prematurity ApoA-I deficiency Apodia Apodia, bilateral Apodia, unilateral ORPHA Disease name number 425 Apolipoprotein A-I deficiency 93560 Apolipoprotein AI amyloidosis 238269 Apolipoprotein AII amyloidosis 320 Apparent mineralocorticoid excess 100079 Appendiceal endocrine tumor 391723 1201 1126 976 3453 3143 227982 227990 3453 3143 227982 227990 101206 99048 402041 93611 93611 93609 93609 331226 93607 98856 101101 101102 169186 248 169446 331226 1129 1130 2356 137817 324442 1915 2697 88644 139485 90349 357074 357074 357064 357058 357064 324442 Appendiceal mucinous adenocarcinoma Apple peel syndrome Aprosencephaly cerebellar dysgenesis APRT deficiency APS1 APS2 APS3 APS4 APS type 1 APS type 2 APS type 3 APS type 4 APV/ADA, Fallot type APV/PDA, non-Fallot type AR dRTA AR dRTA with deafness AR dRTA with hearing loss AR dRTA without deafness AR dRTA without hearing loss AR hyper-IgE syndrome due to TYK2 deficiency AR pRTA AR-CMT2B1 AR-CMT2B2 AR-CMT2C AR-CNM AR-HED AR-HIES AR-HIES due to TYK2 deficiency Arachnodactyly - abnormal ossification - intellectual disability Arachnodactyly - intellectual disability - dysmorphism Arachnoid cyst Arachnoiditis ARAN-NM ARBD ARC syndrome ARCA1 ARCA2 ARCL1 ARCL2, classic type ARCL2, Debré type ARCL2, progeroid type ARCL2A ARCL2B ARCMT2-NM ORPHA Disease name number 101097 ARCMT2K 1133 AREDYLD syndrome 101096 Aregenerative anemia 85333 75377 319223 319223 90 90 23 247525 247525 247525 247525 23 60014 97342 289176 79235 2318 85276 1915 167635 268882 1136 268882 1136 91 178345 35708 254886 99916 1134 1135 260305 98 314603 583 357107 357107 1682 357107 357107 357107 357107 3342 357107 Arena syndrome Areolar atrophy of the macula Argentine hemorrhagic fever Argentinian hemorrhagic fever Arginase deficiency Argininemia Argininosuccinase deficiency Argininosuccinate synthase deficiency Argininosuccinate synthetase deficiency Argininosuccinic acid synthase deficiency Argininosuccinic acid synthetase deficiency Argininosuccinic aciduria Argyria Argyrophilic grain disease ARHR Arias syndrome Arima syndrome Armfield syndrome ARND Arndt-Gottron disease Arnold-Chiari malformation type 1 Arnold-Chiari malformation type 2 Arnold-Chiari malformation type I Arnold-Chiari malformation type II Aromatase deficiency Aromatase excess syndrome Aromatic L-amino acid decarboxylase deficiency arPEO Arrhenoblastoma Arrhinia Arrhinia - choanal atresia microphthalmia ARSA ARSACS ARSAL ARSB deficiency Arterial cervical rib syndrome Arterial costoclavicular syndrome Arterial dissection - lentiginosis Arterial hyperabduction syndrome Arterial scalenus anticus syndrome Arterial thoracic outlet compression syndrome Arterial thoracic outlet syndrome Arterial tortuosity syndrome Arterial TOS → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 13 ORPHA Disease name number 52 Arteriohepatic dysplasia 261619 261629 261600 29207 955 955 3200 1485 2697 65720 1155 994 1150 1154 1144 1149 2848 1187 423655 512 309271 309263 309256 583 276212 276223 81 231466 583 2302 2302 1253 1478 352490 99104 Arteriohepatic dysplasia due to a JAG1 point mutation Arteriohepatic dysplasia due to a NOTCH2 point mutation Arteriohepatic dysplasia due to monosomy 20p12 Arthritis urethritica Arthro-dento-ostéodysplasie Arthrodentoosteodysplasia Arthrogryposis - ectodermal dysplasia - other anomalies Arthrogryposis - hyperkeratosis, lethal form Arthrogryposis - renal dysfunction cholestasis Arthrogryposis - severe scoliosis Arthrogryposis due to muscular dystrophy Arthrogryposis multiplex congenita - pulmonary hypoplasia Arthrogryposis multiplex congenita - whistling face Arthrogryposis with oculomotor limitation and electroretinal anomalies Arthrogryposis-like hand anomaly sensorineural deafness Arthrogryposis-like syndrome Arthropathy-camptodactyly syndrome Arts syndrome ARX-related encephalopathy-brain malformation spectrum Arylsulfatase A deficiency Arylsulfatase A deficiency, adult form Arylsulfatase A deficiency, juvenile form Arylsulfatase A deficiency, late infantile form Arylsulfatase B deficiency Arylsulfatase B deficiency, rapidly progressing Arylsulfatase B deficiency, slowly progressing AS syndrome ASAN ASB deficiency Asbestos intoxication Asbestosis Ascher syndrome ASD ASD due to AUTS2 deficiency ASD, coronary sinus type ORPHA Disease name number 99106 ASD, ostium primum type 99103 ASD, ostium secundum type 99105 ASD, sinus venosus type 54251 97337 3314 2380 97336 97332 2054 97335 57194 54251 137686 276198 391376 141 93 93 63442 1163 474 163699 247525 221120 85175 251679 647 137639 1227 1180 1168 64753 2585 1184 1178 96 3008 3008 94147 96 1188 Aseptic abscesses syndrome Aseptic necrosis of patella Aseptic necrosis of phalangeal epiphyses Aseptic necrosis of the capital femoral epiphysis Aseptic necrosis of the capital humerus Aseptic necrosis of the lunate bone Aseptic necrosis of the tarsal bone Aseptic necrosis of the tibial tubercle Aseptic osteitis Aseptic systemic abscesses Asherman syndrome Asidan Asparagine synthetase deficiency Aspartoacylase deficiency Aspartylglucosaminidase deficiency Aspartylglucosaminuria ASPED Aspergillosis Asphyxiating thoracic dystrophy of the newborn ASPS ASS deficiency ASSA Astley-Kendall dysplasia Astroblastoma AT V1 Ataxia - delayed dentition hypomyelination Ataxia - diabetes - goiter - gonadal insufficiency Ataxia - hypogonadism - choroidal dystrophy Ataxia - oculomotor apraxia type 1 Ataxia - oculomotor apraxia type 2 Ataxia - pancytopenia Ataxia - photosensitivity - short stature Ataxia - tapetoretinal degeneration Ataxia with isolated vitamin E deficiency Ataxia with lactic acidosis type 2 Ataxia with lactic acidosis type II Ataxia with pigmentary retinopathy Ataxia with vitamin E deficiency Ataxia-deafness-intellectual disability syndrome ORPHA number Disease name Ataxia-intellectual disability370022 oculomotor apraxia-cerebellar cysts 100 370109 647 251347 1183 2953 3469 1190 56304 56305 1190 56304 56305 69739 69739 1192 95713 1226 250977 1193 99666 251347 86875 139423 231401 163934 357107 31150 98791 98791 98791 847 30391 1201 105 1344 99107 1478 1479 99104 99106 syndrome Ataxia-telangiectasia Ataxia-telangiectasia variant Ataxia-telangiectasia, variant 1 Ataxia-telangiectasia-like disorder Ataxo-opso-myoclonus syndrome ATCS Atelencephaly Atelosteogenesis type 1 Atelosteogenesis type 2 Atelosteogenesis type 3 Atelosteogenesis type I Atelosteogenesis type II Atelosteogenesis type III Athabascan brainstem dysgenesis syndrome Athabaskan brainstem dysgenesis syndrome Atherosclerosis - deafness diabetes - epilepsy - nephropathy Athyreosis Athyroidal hypothyroidism-spiky hair-cleft palate syndrome ATIC deficiency Atkin-Flaitz syndrome Atlantoaxial subluxation ATLD ATLL ATM/TM ATMDS Atopic keratoconjunctivitis ATOS ATP-binding cassette transporter A1 deficiency ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome ATR-X syndrome Atresia of bile ducts Atresia of small intestine Atresia of urethra Atrial cardiomyopathy with heart block Atrial septal aneurysm Atrial septal defect Atrial septal defect atrioventricular conduction defects Atrial septal defect, coronary sinus type Atrial septal defect, ostium primum type → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 14 ORPHA number 99103 99105 1344 844 86819 168796 392 1350 1342 1352 86813 649 254449 254449 79100 99966 71289 3342 86818 352723 220460 220460 220460 85451 95487 199627 98824 352723 1456 314466 314721 398147 309252 289863 98961 238523 2134 93581 93578 93575 Disease name Atrial septal defect, ostium secundum type Atrial septal defect, sinus venosus type Atrial stand still Atrial tachyarrhythmia with short PR interval Atrichia with papular lesions Atrio-digital dysplasia, Slovenian type Atriodigital dysplasia type 1 Atriodigital dysplasia type 2 Atriodigital dysplasia type 3 Atrioventricular defect blepharophimosis -radial defects Atrophia areata Atrophia bulborum hereditaria Atrophic lichen planus Atrophic LP Atrophoderma vermiculata ATRT ATRUS syndrome ATS ATS-MR Attenuated Chédiak-Higashi syndrome Attenuated familial adenomatous polyposis Attenuated familial polyposis coli Attenuated FAP ATTR cardiomyopathy Atypical arterial duct Atypical autism Atypical chronic myeloid leukemia Atypical Chédiak-Higashi syndrome Atypical coarctation of aorta Atypical Demons-Meigs syndrome Atypical dentin dysplasia due to SMOC2 deficiency Atypical facial pain Atypical Gaucher disease due to saposin C deficiency Atypical glycine encephalopathy Atypical granular corneal dystrophy Atypical HCS Atypical hemolytic-uremic syndrome Atypical hemolytic-uremic syndrome with anti-factor H antibodies Atypical hemolytic-uremic syndrome with B factor anomaly Atypical hemolytic-uremic syndrome with C3 anomaly ORPHA number 357008 93579 93580 93576 217023 2134 93581 93578 93575 357008 93579 93580 93576 217023 238523 391411 86797 99971 99971 247768 314466 247768 289863 289863 261501 261501 261501 216873 251902 95487 79474 99750 99750 3095 247768 3095 99966 Disease name Atypical hemolytic-uremic syndrome with DGKE deficiency Atypical hemolytic-uremic syndrome with H factor anomaly Atypical hemolytic-uremic syndrome with I factor anomaly Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly Atypical hemolytic-uremic syndrome with thrombomodulin anomaly Atypical HUS Atypical HUS with anti-factor H antibodies Atypical HUS with B factor anomaly Atypical HUS with C3 anomaly Atypical HUS with DGKE deficiency Atypical HUS with H factor anomaly Atypical HUS with I factor anomaly Atypical HUS with MCP/CD46 anomaly Atypical HUS with thrombomodulin anomaly Atypical hypotonia - cystinuria syndrome Atypical juvenile parkinsonism Atypical lichen myxedematosus Atypical lipoma Atypical lipomatous tumor Atypical Mayer-Rokitansky-KüsterHauser syndrome Atypical Meigs syndrome Atypical MRKH syndrome Atypical NKA Atypical non-ketotic hyperglycinemia Atypical Norrie disease due to del(X)(p11.3) Atypical Norrie disease due to monosomy Xp11.3 Atypical Norrie disease due to Xp11.3 microdeletion Atypical pantothenate kinaseassociated neurodegeneration Atypical papilloma of choroid plexus Atypical patent ductus arteriosus Atypical progeroid syndrome Atypical progressive supranuclear palsy Atypical PSP Atypical Rett syndrome Atypical Rokitansky syndrome Atypical RTT Atypical teratoid rhabdoid tumor ORPHA number 90393 79474 16 166415 1074 1488 1219 77300 137888 71270 114 →794 1995 585 137911 352490 370943 308410 324636 85138 85138 420789 391487 37042 103916 103917 1959 90033 2137 36913 3453 3453 3261 268114 Disease name Atypical tuberous myxedema of Jadassohn-Dosseker Atypical Werner syndrome Atypical X-linked achromatopsia Audiogenic seizures Aughton-Hufnagle syndrome Aural atresia - multiple congenital anomalies - intellectual disability Auralcephalosyndactyly Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Auriculocondylar syndrome Auriculoocular anomalies - cleft lip Auriculoosteodysplasia Aurocephalosyndactyly Ausems-Wittebol Post-Hennekam syndrome Austin type juvenile sulfatidosis Autism - facial port-wine stain Autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder-epilepsyarthrogryposis syndrome Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Autoerythrocyte sensitization syndrome Autoimmune Addison's disease Autoimmune adrenalitis Autoimmune encephalopathy with parasomnia and obstructive sleep apnoea Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Autoimmune enteropathy type 1 Autoimmune enteropathy type 2 Autoimmune enteropathy type 3 Autoimmune hemolytic anemia and autoimmune thrombocytopenia Autoimmune hemolytic anemia, warm type Autoimmune hepatitis Autoimmune hypoparathyroidism Autoimmune hypoparathyroidism chronic candidiasis - Addison's disease Autoimmune hypoparathyroidism chronic candidosis - Addison's disease Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome type 4 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 15 ORPHA number 268114 275517 589 206569 206569 103919 280302 280315 747 3453 3143 227982 227990 3453 3453 3453 3143 227982 227990 3453 3143 227982 227990 747 93585 3143 592 324977 Disease name Autoimmune lymphoproliferative syndrome type IV Autoimmune lymphoproliferative syndrome with recurrent viral infections Autoimmune myasthenia gravis Autoimmune necrotizing myopathy Autoimmune necrotizing myositis Autoimmune pancreatitis Autoimmune pancreatitis type 1 Autoimmune pancreatitis type 2 Autoimmune PAP Autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrine syndrome type 2 Autoimmune polyendocrine syndrome type 3 Autoimmune polyendocrine syndrome type 4 Autoimmune polyendocrinopathy candidiasis - ectodermal dystrophy syndrome Autoimmune polyendocrinopathy candidosis - ectodermal dystrophy syndrome Autoimmune polyendocrinopathy type 1 Autoimmune polyendocrinopathy type 2 Autoimmune polyendocrinopathy type 3 Autoimmune polyendocrinopathy type 4 Autoimmune polyglandular syndrome type 1 Autoimmune polyglandular syndrome type 2 Autoimmune polyglandular syndrome type 3 Autoimmune polyglandular syndrome type 4 Autoimmune pulmonary alveolar proteinosis Autoimmune thrombotic thrombocytopenic purpura Autoimmune thyroid disease and/or type 1 diabetes - Addison disease Autoimmune/inflammatory syndrome induced by adjuvant with persisting aluminic granuloma Autoinflammation-lipodystrophydermatoses syndrome ORPHA number Disease name Autoinflammation-PLCG2324530 associated antibody deficiency- 210115 329173 33110 88918 1810 314399 314399 1216 314652 93304 169189 314404 314404 324611 397735 401964 99946 99947 99936 99937 99938 99939 99940 99941 immune dysregulation Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Autosomal agammaglobulinemia Autosomal dominant Alport syndrome Autosomal dominant anhidrotic ectodermal dysplasia Autosomal dominant aplasia and myelodysplasia Autosomal dominant aplastic anemia and myelodysplasia Autosomal dominant benign distal spinal muscular atrophy Autosomal dominant beta2microglobulinic amyloidosis Autosomal dominant brachyolmia Autosomal dominant centronuclear myopathy Autosomal dominant cerebellar ataxia, deafness and narcolepsy Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Autosomal dominant CharcotMarie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant CharcotMarie-Tooth disease type 2 due to MARS mutation Autosomal dominant CharcotMarie-Tooth disease type 2 with giant axons Autosomal dominant CharcotMarie-Tooth disease type 2A1 Autosomal dominant CharcotMarie-Tooth disease type 2A2 Autosomal dominant CharcotMarie-Tooth disease type 2B Autosomal dominant CharcotMarie-Tooth disease type 2C Autosomal dominant CharcotMarie-Tooth disease type 2D Autosomal dominant CharcotMarie-Tooth disease type 2E Autosomal dominant CharcotMarie-Tooth disease type 2F Autosomal dominant CharcotMarie-Tooth disease type 2G ORPHA number 99942 99943 99944 99945 228179 228174 284232 300319 329258 98975 306561 306561 363447 363454 209341 79344 →2526 1455 1216 98975 86814 90348 75381 79499 2337 139518 93608 Disease name Autosomal dominant CharcotMarie-Tooth disease type 2I Autosomal dominant CharcotMarie-Tooth disease type 2J Autosomal dominant CharcotMarie-Tooth disease type 2K Autosomal dominant CharcotMarie-Tooth disease type 2L Autosomal dominant CharcotMarie-Tooth disease type 2M Autosomal dominant CharcotMarie-Tooth disease type 2N Autosomal dominant CharcotMarie-Tooth disease type 2O Autosomal dominant CharcotMarie-Tooth disease type 2P Autosomal dominant CharcotMarie-Tooth disease type 2Q Autosomal dominant CHED Autosomal dominant childhoodonset cortical cataract Autosomal dominant childhoodonset progressive cortical cataract Autosomal dominant childhoodonset proximal spinal muscular atrophy Autosomal dominant childhoodonset proximal spinal muscular atrophy with contractures Autosomal dominant childhoodonset proximal spinal muscular atrophy without contractures Autosomal dominant chondrodysplasia punctata Autosomal dominant chorioretinopathy - microcephaly Autosomal dominant coarctation of aorta Autosomal dominant congenital benign spinal muscular atrophy Autosomal dominant congenital hereditary endothelial dystrophy Autosomal dominant cortical myoclonus and epilepsy Autosomal dominant cutis laxa Autosomal dominant cystoid macular edema Autosomal dominant deafnessonychodystrophy syndrome Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type Autosomal dominant distal juvenile spinal muscular atrophy type 1 Autosomal dominant distal renal tubular acidosis → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 16 ORPHA number Disease name Autosomal dominant doparesponsive dystonia Autosomal dominant dystrophic →231568 epidermolysis bullosa, CockayneTouraine type Autosomal dominant dystrophic 231568 epidermolysis bullosa, Pasini and Cockayne-Touraine types Autosomal dominant dystrophic →231568 epidermolysis bullosa, Pasini type Autosomal dominant ectodermal 300576 dysplasia-cancer predisposition syndrome syndrome Autosomal dominant Emery98853 Dreifuss muscular dystrophy Autosomal dominant epilepsy with 101046 auditory features Autosomal dominant familial 73229 hematuria - retinal arteriolar tortuosity - contractures Autosomal dominant familial 100988 spastic paraplegia type 3 Autosomal dominant focal 329466 dystonia, DYT25 Autosomal dominant focal non402003 epidermolytic palmoplantar keratoderma with plantar blistering Autosomal dominant gingival 2024 fibromatosis Autosomal dominant gingival 2024 hyperplasia Autosomal dominant hereditary 139491 hemochromatosis Autosomal dominant hereditary 401964 motor and sensory neuropathy type 2 with giant axons 2314 Autosomal dominant HIES Autosomal dominant hyper-IgE 2314 syndrome Autosomal dominant 2314 hyperimmunoglobulin E syndrome Autosomal dominant 276580 hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Autosomal dominant 276575 hyperinsulinemic hypoglycemia due to SUR1 deficiency Autosomal dominant 276580 hyperinsulinism due to Kir6.2 deficiency Autosomal dominant 276575 hyperinsulinism due to SUR1 deficiency 428 Autosomal dominant hypocalcemia Autosomal dominant hypohidrotic 1810 ectodermal dysplasia 98808 ORPHA number 89937 89937 100043 100044 100045 100046 93114 352670 324585 90635 90635 90635 90635 93325 2334 293936 503 411602 67042 101046 313808 266 264 265 34516 34517 Disease name Autosomal dominant hypophosphatemia Autosomal dominant hypophosphatemic rickets Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Autosomal dominant isolated neurosensory deafness type DFNA Autosomal dominant isolated neurosensory hearing loss type DFNA Autosomal dominant isolated sensorineural deafness type DFNA Autosomal dominant isolated sensorineural hearing loss type DFNA Autosomal dominant Kenny-Caffey syndrome Autosomal dominant keratitis Autosomal dominant keratoconus with early-onset anterior polar cataracts Autosomal dominant Larsen syndrome Autosomal dominant late-onset Parkinson disease Autosomal dominant late-onset retinal degeneration Autosomal dominant lateral temporal lobe epilepsy Autosomal dominant leukoencephalopathy with neuroaxonal spheroids Autosomal dominant limb-girdle muscular dystrophy type 1A Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant limb-girdle muscular dystrophy type 1D Autosomal dominant limb-girdle muscular dystrophy type 1E ORPHA number 55595 55596 238755 140957 88950 34149 88949 319581 319589 319581 319589 330041 2514 319581 319589 319581 319589 65743 99846 79153 329211 98784 178469 Disease name Autosomal dominant limb-girdle muscular dystrophy type 1F Autosomal dominant limb-girdle muscular dystrophy type 1G Autosomal dominant limb-girdle muscular dystrophy type 1H Autosomal dominant macrothrombocytopenia Autosomal dominant medullary cystic kidney disease with hyperuricemia Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Autosomal dominant medullary cystic kidney disease without hyperuricemia Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency Autosomal dominant methemoglobinemia Autosomal dominant microcephaly Autosomal dominant MSMD due to partial IFNgammaR1 deficiency Autosomal dominant MSMD due to partial IFNgammaR2 deficiency Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency Autosomal dominant multiple pterygium syndrome Autosomal dominant myoglobinuria Autosomal dominant nail dysplasia Autosomal dominant neovascular inflammatory vitreoretinopathy Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nonsyndromic intellectual disability → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 17 ORPHA number Disease name ORPHA number Autosomal dominant non90635 syndromic neurosensory deafness 90635 90635 90635 93328 306588 306588 306588 67036 →1215 255117 250932 1215 67036 98673 98673 2783 1798 2790 1010 1010 88924 2924 1300 type DFNA Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA Autosomal dominant nonsyndromic sensorineural deafness type DFNA Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA Autosomal dominant omodysplasia Autosomal dominant Opitz BBB/G syndrome Autosomal dominant Opitz G/BBB syndrome Autosomal dominant Opitz syndrome Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy and congenital deafness Autosomal dominant optic atrophy and late-onset deafness Autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy type 3 Autosomal dominant optic atrophy, classic type Autosomal dominant optic atrophy, Kjer type Autosomal dominant osteopetrosis type 1 Autosomal dominant osteosclerosis, Stanescu type Autosomal dominant osteosclerosis, Worth type Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia Autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant polycystic liver disease Autosomal dominant popliteal pterygium syndrome Disease name Autosomal dominant primary 34528 hypomagnesemia with 2964 254892 88659 314889 171871 209867 3107 247511 247511 98808 486 140481 251282 100984 100985 100988 100989 100990 100991 100993 100994 100998 100999 101009 101011 320365 hypocalciuria Autosomal dominant prognathism Autosomal dominant progressive external ophthalmoplegia Autosomal dominant progressive nephropathy with hypertension Autosomal dominant proximal renal tubular acidosis Autosomal dominant pseudohypoaldosteronism type 1 Autosomal dominant rhegmatogenous retinal detachment Autosomal dominant Robinow syndrome Autosomal dominant secondary erythrocytosis Autosomal dominant secondary polycythemia Autosomal dominant Segawa syndrome Autosomal dominant severe congenital neutropenia Autosomal dominant slowed nerve conduction velocity Autosomal dominant spastic ataxia type 1 Autosomal dominant spastic paraplegia type 3 Autosomal dominant spastic paraplegia type 4 Autosomal dominant spastic paraplegia type 6 Autosomal dominant spastic paraplegia type 8 Autosomal dominant spastic paraplegia type 9 Autosomal dominant spastic paraplegia type 10 Autosomal dominant spastic paraplegia type 12 Autosomal dominant spastic paraplegia type 13 Autosomal dominant spastic paraplegia type 17 Autosomal dominant spastic paraplegia type 19 Autosomal dominant spastic paraplegia type 29 Autosomal dominant spastic paraplegia type 31 Autosomal dominant spastic paraplegia type 36 ORPHA number 171612 171617 320355 171863 1797 1797 228169 98757 3357 3086 88919 1027 248 1116 139485 247815 139485 88644 101101 101097 98856 101102 101101 101097 324442 139455 →3460 Disease name Autosomal dominant spastic paraplegia type 37 Autosomal dominant spastic paraplegia type 38 Autosomal dominant spastic paraplegia type 41 Autosomal dominant spastic paraplegia type 42 Autosomal dominant spondylocostal dysostosis Autosomal dominant spondylocostal dysplasia Autosomal dominant striatal neurodegeneration Autosomal dominant striatonigral degeneration Autosomal dominant trichoodontoonychodysplasiasyndactyly Autosomal dominant vitreoretinochoroidopathy Autosomal recessive Alport syndrome Autosomal recessive amelia Autosomal recessive anhidrotic ectodermal dysplasia Autosomal recessive aplasia cutis Autosomal recessive ataxia due to coenzyme Q10 deficiency Autosomal recessive ataxia due to PEX10 deficiency Autosomal recessive ataxia due to ubiquinone deficiency Autosomal recessive ataxia, Beauce type Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K Autosomal recessive axonal CMT4C1 Autosomal recessive axonal CMT4C2 Autosomal recessive axonal CMT4C3 Autosomal recessive axonal CMT4C4 Autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive bestrophinopathy Autosomal recessive carpotarsal osteolysis → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 18 ORPHA number 169186 95433 352403 284271 95434 352641 412057 88644 139485 352641 404499 404493 284282 363429 1170 363969 324442 98856 101097 90118 293603 217046 2518 Disease name Autosomal recessive centronuclear myopathy Autosomal recessive cerebellar ataxia - blindness - deafness Autosomal recessive cerebellar ataxia - cognitive defect Autosomal recessive cerebellar ataxia - psychomotor retardation Autosomal recessive cerebellar ataxia - saccadic intrusion Autosomal recessive cerebellar ataxia due to GBA2 deficiency Autosomal recessive cerebellar ataxia due to STUB1 deficiency Autosomal recessive cerebellar ataxia type 1 Autosomal recessive cerebellar ataxia type 2 Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmusoculomotor apraxia syndrome Autosomal recessive cerebelloparenchymal disorder type 3 Autosomal recessive cerebral atrophy Autosomal recessive CharcotMarie-Tooth disease type 2 with neuromyotonia Autosomal recessive CharcotMarie-Tooth disease type 2B1 Autosomal recessive CharcotMarie-Tooth disease with hoarseness Autosomal recessive CharcotMarie-Tooth disease, Ouvrier type Autosomal recessive CHED Autosomal recessive childhoodonset cortical cataract Autosomal recessive chorioretinopathy-microcephaly ORPHA number Disease name Autosomal recessive congenital 363432 cerebellar ataxia due to GRID2 deficiency Autosomal recessive congenital cerebellar ataxia due to ionotropic 363432 glutamate receptor delta-2 subunit deficiency Autosomal recessive congenital cerebellar ataxia due to 324262 metabotropic glutamate receptor 1 deficiency Autosomal recessive congenital 324262 cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive congenital 293603 hereditary endothelial dystrophy Autosomal recessive congenital 99951 hypomyelinating neuropathy Autosomal recessive cutis laxa type 90349 1 Autosomal recessive cutis laxa type 357074 2, classic type Autosomal recessive cutis laxa type 357074 2, Debré type Autosomal recessive cutis laxa type 357064 2, progeroid type Autosomal recessive cutis laxa type 357058 2A Autosomal recessive cutis laxa type 357064 2B Autosomal recessive cutis laxa with 90349 severe systemic involvement Autosomal recessive cutis laxa, 90349 pulmonary emphysema type Autosomal recessive deafness79500 onychodystrophy syndrome Autosomal recessive distal 2776 osteolysis syndrome Autosomal recessive distal renal 402041 tubular acidosis Autosomal recessive distal renal →402041 tubular acidosis with deafness Autosomal recessive distal renal 93611 tubular acidosis with hearing loss Autosomal recessive distal renal →402041 tubular acidosis without deafness Autosomal recessive distal renal 93609 tubular acidosis without hearing loss 402041 Autosomal recessive distal RTA Autosomal recessive distal RTA 93611 with deafness Autosomal recessive distal spinal 98920 muscular atrophy type 1 Autosomal recessive distal spinal 139552 muscular atrophy type 2 ORPHA number 139547 206580 314485 101150 79408 89842 89842 79408 238569 238569 98855 289586 1974 329329 169446 169446 331226 79644 79643 79644 79643 248 289176 300547 Disease name Autosomal recessive distal spinal muscular atrophy type 3 Autosomal recessive distal spinal muscular atrophy type 4 Autosomal recessive distal spinal muscular atrophy type 5 Autosomal recessive doparesponsive dystonia Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis Autosomal recessive dystrophic epidermolysis bullosa, generalized other Autosomal recessive dystrophic epidermolysis bullosa, HallopeauSiemens type Autosomal recessive early-onset IBD Autosomal recessive early-onset inflammatory bowel disease Autosomal recessive EmeryDreifuss muscular dystrophy Autosomal recessive exfoliative ichthyosis Autosomal recessive facio-digitogenital syndrome Autosomal recessive frontotemporal pachygyria Autosomal recessive HIES Autosomal recessive hyper-IgE syndrome Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Autosomal recessive hyperinsulinism due to SUR1 deficiency Autosomal recessive hypohidrotic ectodermal dysplasia Autosomal recessive hypophosphatemic rickets Autosomal recessive infantile hypercalcemia → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 19 ORPHA number 93591 93591 352530 217055 254334 369867 210110 90636 90636 93324 263463 1842 33108 314572 363543 352479 254361 267 268 353 62 119 219 34514 1878 Disease name Autosomal recessive infantile nephronophthisis Autosomal recessive infantile NPHP Autosomal recessive intellectual disability due to TRAPPC9 deficiency Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Autosomal recessive intermediate Charcot-Marie-Tooth disease type C Autosomal recessive intermediate osteopetrosis Autosomal recessive isolated neurosensory deafness type DFNB Autosomal recessive isolated sensorineural deafness type DFNB Autosomal recessive Kenny-Caffey syndrome Autosomal recessive Larsen syndrome Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type Autosomal recessive lethal multiple pterygium syndrome Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency Autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy type 2C Autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2H ORPHA number 34515 140922 86812 206549 206554 206559 206564 280333 254361 363543 369840 363623 352479 206580 238505 667 319569 319574 319569 319574 175 319569 319574 Disease name Autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2L Autosomal recessive limb-girdle muscular dystrophy type 2M Autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2P Autosomal recessive limb-girdle muscular dystrophy type 2Q Autosomal recessive limb-girdle muscular dystrophy type 2R Autosomal recessive limb-girdle muscular dystrophy type 2S Autosomal recessive limb-girdle muscular dystrophy type 2T Autosomal recessive limb-girdle muscular dystrophy type 2U Autosomal recessive lower motor neuron disease with childhood onset Autosomal recessive lymphoproliferative disease Autosomal recessive malignant osteopetrosis Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency Autosomal recessive metaphyseal chondrodysplasia Autosomal recessive MSMD due to partial IFNgammaR1 deficiency Autosomal recessive MSMD due to partial IFNgammaR2 deficiency ORPHA number Disease name Autosomal recessive MSMD due to 319569 partial interferon gamma receptor 1 319574 93307 2990 424261 319332 319332 280654 2990 88616 90636 90636 93329 67047 67047 99012 227976 178389 178389 1366 1366 731 1234 88628 2512 deficiency Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency Autosomal recessive multiple epiphyseal dysplasia Autosomal recessive multiple pterygium syndrome Autosomal recessive muscular dystrophy due to LAP1B deficiency Autosomal recessive myogenic AMC Autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive nail dysplasia Autosomal recessive non-lethal multiple pterygium syndrome Autosomal recessive nonsyndromic intellectual disability Autosomal recessive nonsyndromic neurosensory deafness type DFNB Autosomal recessive nonsyndromic sensorineural deafness type DFNB Autosomal recessive omodysplasia Autosomal recessive optic atrophy plus syndrome Autosomal recessive optic atrophy type 3 Autosomal recessive optic atrophy, OPA6 type Autosomal recessive optic atrophy, OPA7 type Autosomal recessive osteoclastpoor osteopetrosis with hypogammaglobulinemia Autosomal recessive osteopetrosis type 7 Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia Autosomal recessive palmoplantar keratoderma and congenital alopecia Autosomal recessive polycystic kidney disease Autosomal recessive popliteal pterygium syndrome Autosomal recessive posterior column ataxia and retinitis pigmentosa Autosomal recessive primary microcephaly → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 20 ORPHA number 254886 93607 171876 1507 247378 247378 247378 247378 101150 970 70594 420702 420699 331176 423384 260305 300345 254343 98 314603 254343 313772 314603 101005 100986 Disease name Autosomal recessive progressive external ophthalmoplegia Autosomal recessive proximal renal tubular acidosis Autosomal recessive pseudohypoaldosteronism type 1 Autosomal recessive Robinow syndrome Autosomal recessive secondary erythrocytosis not associated with VHL gene Autosomal recessive secondary erythrocytosis, non Chuvash type Autosomal recessive secondary polycythemia not associated with VHL gene Autosomal recessive secondary polycythemia, non Chuvash type Autosomal recessive Segawa syndrome Autosomal recessive sensory radicular neuropathy Autosomal recessive sepiapterin reductase-deficient DRD Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Autosomal recessive sideroblastic anemia Autosomal recessive SLE Autosomal recessive spastic ataxia optic atrophy - dysarthria Autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal recessive spastic ataxia type 3 Autosomal recessive spastic ataxia type 4 Autosomal recessive spastic ataxia type 5 Autosomal recessive spastic ataxia with leukoencephalopathy Autosomal recessive spastic paraplegia - disc herniation Autosomal recessive spastic paraplegia type 5A ORPHA number 99013 2822 100995 100996 209951 101000 101001 101003 101004 101005 101006 101007 101008 101010 171622 171629 139480 320370 320401 320396 320391 306511 320385 319199 320380 320375 320411 397946 Disease name Autosomal recessive spastic paraplegia type 7 Autosomal recessive spastic paraplegia type 11 Autosomal recessive spastic paraplegia type 14 Autosomal recessive spastic paraplegia type 15 Autosomal recessive spastic paraplegia type 18 Autosomal recessive spastic paraplegia type 20 Autosomal recessive spastic paraplegia type 21 Autosomal recessive spastic paraplegia type 23 Autosomal recessive spastic paraplegia type 24 Autosomal recessive spastic paraplegia type 25 Autosomal recessive spastic paraplegia type 26 Autosomal recessive spastic paraplegia type 27 Autosomal recessive spastic paraplegia type 28 Autosomal recessive spastic paraplegia type 30 Autosomal recessive spastic paraplegia type 32 Autosomal recessive spastic paraplegia type 35 Autosomal recessive spastic paraplegia type 39 Autosomal recessive spastic paraplegia type 43 Autosomal recessive spastic paraplegia type 44 Autosomal recessive spastic paraplegia type 45 Autosomal recessive spastic paraplegia type 46 Autosomal recessive spastic paraplegia type 48 Autosomal recessive spastic paraplegia type 49 Autosomal recessive spastic paraplegia type 53 Autosomal recessive spastic paraplegia type 54 Autosomal recessive spastic paraplegia type 55 Autosomal recessive spastic paraplegia type 56 Autosomal recessive spastic paraplegia type 58 ORPHA number 401795 401800 401780 401785 401805 401810 320396 401815 401820 401825 401830 401835 401840 401849 98920 284332 284324 139485 284289 284271 284282 324262 352403 404499 2311 401979 250984 Disease name Autosomal recessive spastic paraplegia type 59 Autosomal recessive spastic paraplegia type 60 Autosomal recessive spastic paraplegia type 61 Autosomal recessive spastic paraplegia type 62 Autosomal recessive spastic paraplegia type 63 Autosomal recessive spastic paraplegia type 64 Autosomal recessive spastic paraplegia type 65 Autosomal recessive spastic paraplegia type 66 Autosomal recessive spastic paraplegia type 67 Autosomal recessive spastic paraplegia type 68 Autosomal recessive spastic paraplegia type 69 Autosomal recessive spastic paraplegia type 70 Autosomal recessive spastic paraplegia type 71 Autosomal recessive spastic paraplegia type 72 Autosomal recessive spinal muscular atrophy with respiratory distress Autosomal recessive spinocerebellar ataxia type 6 Autosomal recessive spinocerebellar ataxia type 7 Autosomal recessive spinocerebellar ataxia type 9 Autosomal recessive spinocerebellar ataxia type 10 Autosomal recessive spinocerebellar ataxia type 11 Autosomal recessive spinocerebellar ataxia type 12 Autosomal recessive spinocerebellar ataxia type 13 Autosomal recessive spinocerebellar ataxia type 14 Autosomal recessive spinocerebellar ataxia type 15 Autosomal recessive spondylocostal dysostosis Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Autosomal recessive Stickler syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 21 ORPHA number 300345 280365 168629 352490 96 98963 99000 58 363717 363722 98978 782 782 1834 2777 168549 401911 401911 401911 401911 90119 101102 209004 1435 413687 284454 3471 217034 217034 98757 99121 99121 99121 79332 75496 99860 67038 67038 Disease name Autosomal recessive systemic lupus erythematosus Autosomal semi-dominant severe lipodystrophic laminopathy Autosomal thrombocytopenia with normal platelets AUTS2 syndrome AVED Avellino corneal dystrophy AVMD AxD AxD type I AxD type II Axenfeld anomaly Axenfeld syndrome Axenfeld-Rieger syndrome Axial mesodermal dysplasia spectrum Axial osteosclerosis Axial spondylometaphyseal dysplasia AXIN2-related AFAP AXIN2-related attenuated familial adenomatous polyposis AXIN2-related attenuated familial polyposis coli AXIN2-related attenuated FAP Axonal Charcot-Marie-Tooth disease with acrodystrophy Axonal Charcot-Marie-Tooth disease with pyramidal involvement Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy Ayazi syndrome Azathioprine or 6-mercatopurine toxicity or dose selection AZOOR Azoospermia - sinopulmonary infections Azoospermia due to maturation arrest Azoospermia due to meiosis defect Azorean disease of the nervous system Azygos continuation of the inferior caval vein Azygos continuation of the inferior vena cava Azygos continuation of the IVC B4GALT1-CDG B4GALT7-CDG B-ALL B-cell chronic lymphocytic leukemia B-cell chronic lymphoid leukemia ORPHA Disease name number 86852 B-cell prolymphocytic leukemia 67038 B-CLL 404560 B-K mole syndrome 86852 108 206994 36234 36234 86814 2819 352577 1658 139471 1223 1223 139450 363746 363746 93395 1225 66529 228165 634 1226 1226 98955 1227 130 1228 109 139507 289539 1229 2753 1229 2995 2237 1231 110 34592 572 3317 79087 2698 111 64692 50839 B-PLL Babesiosis Bacterial myositis Bacterial toxic-shock syndrome Bacterial TSS BAFME Bahemuka-Brown syndrome Bainbridge-Roppers syndrome Baird syndrome Bakrania-Ragge syndrome Balantidiasis Balantidiosis Balikova-Vermeesch syndrome Balint syndrome Balint-Holmes syndrome Ballard syndrome Baller-Gerold syndrome Ballooning cardiomyopathy Baló concentric sclerosis Bamboo hair syndrome Bamforth syndrome Bamforth-Lazarus syndrome Band-shaped and whorled microcystic dystrophy of the corneal epithelium Bangstad syndrome Bangungut Banki syndrome Bannayan-Riley-Ruvalcaba syndrome Bantu siderosis BAP1-related tumor predisposition syndrome Baraitser-Brett-Piesowicz syndrome Baraitser-Burn syndrome Baraitser-Reardon syndrome Baraitser-Winter syndrome Barakat syndrome Barber-Say syndrome Bardet-Biedl syndrome Bare lymphocyte syndrome type 1 Bare lymphocyte syndrome type 2 Barnes syndrome Barraquer-Simons syndrome Bart-Pumphrey syndrome Barth syndrome Bartonellosis due to Bartonella bacilliformis infection Bartonellosis due to Bartonella henselae infection ORPHA number 64694 1234 112 93605 89938 263417 93605 89938 263417 263417 93604 93604 377 268829 1235 50810 244283 14 1875 100976 1948 79264 1401 166113 113 65284 110 41751 1997 312 511 511 1236 247203 113 115 115 1059 1555 98895 98895 64755 116 231127 96076 231130 Disease name Bartonellosis due to Bartonella quintana infection Bartsocas-Papas syndrome Bartter syndrome Bartter syndrome type 3 Bartter syndrome type 4 Bartter syndrome type 5 Bartter syndrome type III Bartter syndrome type IV Bartter syndrome type V Bartter syndrome with hypocalcemia Bartter syndrome, furosemide type Bartter syndrome, furosemideamiloride type Basal cell nevus syndrome Basal encephalocele Basan syndrome Basel-Vanagaite-Sirota syndrome BASM syndrome Bassen-Kornzweig disease Bassoe syndrome Bathing suit ichthyosis Battaglia-Neri syndrome Batten disease Baughman syndrome Bazex syndrome Bazex-Dupré-Christol syndrome BBGD BBS BCD BCD syndrome BCIE BCKD deficiency BCKDH deficiency Bd syndrome BDC BDCS Beals syndrome Beals-Hecht syndrome Bean syndrome Beare-Stevenson cutis gyrata syndrome Becker dystrophinopathy Becker muscular dystrophy Becker nevus syndrome Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 22 ORPHA number 231120 231117 238613 96193 1945 1945 2572 322 1237 275864 1239 2705 117 2810 247203 247203 1240 1492 100978 1241 86814 86814 610 157997 98816 98815 2841 251287 254864 180284 1945 276148 71269 1429 1945 163717 1949 Disease name Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 BECRS BECTS Bedouin spastic ataxia syndrome BEEC Beemer-Ertbruggen syndrome Behavioral variant of frontotemporal dementia Behr syndrome Behrens-Baumann-Vogel syndrome Behçet disease Bell palsy Bellini carcinoma Bellini duct carcinoma Bellini syndrome Ben Ari-Shuper-Mimouni syndrome Benallegue-Lacete syndrome Bencze syndrome Benign adult familial myoclonic epilepsy Benign adult familial myoclonus epilepsy Benign autosomal dominant myopathy Benign cephalic histiocytosis Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign chronic familial pemphigus of Hailey-Hailey Benign concentric annular macular dystrophy Benign COX deficiency Benign ductal tumor of breast Benign epilepsy of childhood with centrotemporal spikes Benign epithelial tumor of salivary glands Benign exophthalmos syndrome Benign familial chorea Benign familial epilepsy of childhood with rolandic spikes Benign familial mesial temporal lobe epilepsy Benign familial neonatal convulsions ORPHA Disease name number 1949 Benign familial neonatal epilepsy 1949 Benign familial neonatal seizures 140927 209973 209973 65684 1544 64545 166308 166305 238624 285 168816 86909 86909 140927 25968 342 1179 71518 166299 166302 65682 99960 99961 342 1945 324581 252164 180237 2198 54247 528 171839 Benign familial neonatal-infantile seizures Benign familial nocturnal alternating hemiplegia in childhood Benign familial nocturnal alternating hemiplegia of childhood Benign focal amyotrophy Benign focal seizures of adolescence Benign idiopathic neonatal seizures Benign infantile focal epilepsy with midline spikes and wave during sleep Benign infantile seizures associated to mild gastroenteritis Benign intracranial hypertension Benign joint hypermobility syndrome Benign multicystic peritoneal mesothelioma Benign myoclonic epilepsy of infancy Benign myoclonus epilepsy of infancy Benign neonatal-infantile epilepsy Benign occipital epilepsy Benign paroxysmal peritonitis Benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal torticollis of infancy Benign partial epilepsy of infancy with complex partial seizures Benign partial epilepsy with secondarily generalized seizures in infancy Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis type 2 Benign recurrent polyserositis Benign rolandic epilepsy Benign Samaritan congenital myopathy Benign schwannoma Benign tumor of fallopian tubes Bennion-Patterson syndrome Benson syndrome Beradinelli-Seip syndrome Berant syndrome ORPHA number 528 2241 647 274 178528 133 133 133 71269 797 321 1243 1243 1243 85446 79332 65287 309310 354 584 134 118 118 329284 119 →33364 231393 231222 231214 65287 610 2114 2114 127 140927 293284 293284 98964 180086 180106 180106 180111 2088 2182 Disease name Berardinelli-Seip congenital lipodystrophy Berdon syndrome Berlin breakage syndrome Bernard-Soulier syndrome Berti lymphoma Berylliosis Beryllium granulomatosis Beryllium pneumonosis BES Besnier-Boeck-Schaumann disease Bessel-Hagen disease Best disease Best macular dystrophy Best vitelliform macular dystrophy Beta2-microglobulinic amyloidosis Beta-1,4-galactosyltransferase deficiency Beta-alanine synthase deficiency Beta-D-galactosidase deficiency Beta-galactosidase-1 deficiency Beta-glucuronidase deficiency Beta-ketothiolase deficiency Beta-mannosidase deficiency Beta-mannosidosis Beta-propeller protein-associated neurodegeneration Beta-sarcoglycanopathy Beta-thalassemia trichothiodystrophy Beta-thalassemia - X-linked thrombocytopenia Beta-thalassemia intermedia Beta-thalassemia major Beta-ureidopropionase deficiency Bethlem myopathy Beukes familial hip dysplasia BFHD BFLS BFNIS BH4-responsive HPA/PKU BH4-responsive hyperphenylalaninemia/phenylketo nuria Biber-Haab-Dimmer dystrophy Bicervical bicornuate uterus Bicervical bicornuate uterus and blind hemivagina Bicervical bicornuate uterus oneeyed hemi-vagina Bicervical bicornuate uterus with patent cervix and vagina Bickel-Fanconi glycogenosis Bickers-Adams syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 23 ORPHA Disease name number 79138 Bickerstaff brainstem encephalitis 3286 Bidirectional tachycardia 3286 →33364 1246 141333 41751 41751 41751 1986 295006 295177 295175 295006 295177 295175 295006 295177 295175 2695 217266 99771 99771 300 319205 325124 2048 1229 208444 101070 208447 319205 97364 140963 97364 97364 208441 98889 268940 295150 1980 276066 Bidirectional tachycardia induced by catecholamine BIDS syndrome Biemond syndrome Biemond syndrome type 2 Bietti crystalline corneoretinal dystrophy Bietti crystalline dystrophy Bietti crystalline retinopathy Bifid femur - monodactylous ectrodactyly Bifid great toes Bifid great toes, bilateral Bifid great toes, unilateral Bifid halluces Bifid halluces, bilateral Bifid halluces, unilateral Bifid hallux Bifid hallux, bilateral Bifid hallux, unilateral Bifid nose Bifid nose with or without anorectal and renal anomalies Bifid uvula Bifidity of the uvula Bifunctional enzyme deficiency Bilateral adrenal hemorrhage Bilateral anorchia Bilateral anterior opercular syndrome Bilateral band-like calcification with polymicrogyria Bilateral frontal polymicrogyria Bilateral frontoparietal polymicrogyria Bilateral generalized polymicrogyria Bilateral massive adrenal hemorrhage Bilateral MCDK Bilateral microtia - deafness - cleft palate Bilateral multicystic dysplastic kidney Bilateral multicystic renal dysplasia Bilateral parasagittal parietooccipital polymicrogyria Bilateral perisylvian polymicrogyria Bilateral polymicrogyria Bilateral PPD2 Bilateral striopallidodentate calcinosis Bile acid CoA ligase deficiency and defective amidation ORPHA Disease name number 70567 Bile duct cancer 30391 Biliary atresia 244283 424982 386 →2697 98836 415286 205 79234 79235 205 79234 79235 1799 1248 3304 1249 65284 65284 79241 54247 364198 99908 2617 179 179 179 179 122 79133 2213 285 123 124 93930 322 37202 98922 254379 254379 86870 86870 Biliary atresia with splenic malformation syndrome Biliary cystadenocarcinoma Biliary hamartoma Biliary tract malformation - renal failure Bilineal acute leukemia Bilirubin encephalopathy Bilirubin uridinediphosphate glucuronosyltransferase deficiency Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-UGT deficiency Bilirubin-UGT deficiency type 1 Bilirubin-UGT deficiency type 2 Billard-Toutain-Maheut syndrome Binder syndrome Bindewald-Ulmer-Müller syndrome Binswanger disease Biotin-responsive basal ganglia disease Biotin-thiamine-responsive basal ganglia disease Biotinidase deficiency Biparietal Alzheimer disease Bipartite talus Bird fancier lung Bird headed-dwarfism, Montreal type Birdshot chorioretinitis Birdshot chorioretinopathy Birdshot retinochoroiditis Birdshot retinochoroidopathy Birt-Hogg-Dubé syndrome Bitemporal aplasia cutis congenita Bixler-Christian-Gorlin syndrome BJHS Björnstad syndrome Blackfan-Diamond anemia Bladder exstrophy Bladder exstrophy-epispadiascloacal extrophy complex Bladder pain syndrome Blake pouch cyst Blaschkoid lichen planus Blaschkoid LP Blastic NK-cell lymphoma Blastic plasmacytoid dendritic cell neoplasm ORPHA Disease name number 1834 Blastogenesis defect 90340 Blau syndrome 50945 BLC 1229 73271 98885 98886 220443 420566 420566 1997 2353 1253 1997 →2353 1252 126 261559 261572 261559 261559 261579 2057 1256 1968 2728 126 261559 261572 261559 BLC-PMG Bleeding diathesis due to a collagen receptor defect Bleeding diathesis due to glycoprotein VI deficiency Bleeding diathesis due to integrin alpha2-beta1 deficiency Bleeding diathesis due to thromboxane synthesis deficiency Bleeding disorder due to calciumand DAG-regulated guanine exchange factor-1 deficiency Bleeding disorder due to CalDAGGEFI deficiency Blepharo-cheilo-odontic syndrome Blepharo-facio-skeletal syndrome Blepharochalasis - double lip Blepharocheilodontic syndrome Blepharofacioskeletal syndrome Blepharonasofacial malformation syndrome Blepharophimosis - epicanthus inversus - ptosis Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion Blepharophimosis - epicanthus inversus - ptosis due to a point mutation Blepharophimosis - epicanthus inversus - ptosis due to del(3)(q23) Blepharophimosis - epicanthus inversus - ptosis due to monosomy 3q23 Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion Blepharophimosis - ptosis esotropia - syndactyly - short stature Blepharophimosis - radioulnar synostosis Blepharophimosis - telecanthus microstomia Blepharophimosis syndrome, Ohdo type Blepharophimosis types 1 and 2 Blepharophimosis types 1 and 2 due to 3q23 microdeletion Blepharophimosis types 1 and 2 due to a point mutation Blepharophimosis types 1 and 2 due to del(3)(q23) → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 24 ORPHA number 261559 261579 329255 293725 293707 293707 2728 3047 293725 1258 1259 93964 171844 464 464 50945 50945 50945 125 2768 88629 16 16 94086 1059 98989 319205 1243 98895 293725 293707 293707 2728 293725 217266 50945 217008 1292 2724 48686 Disease name Blepharophimosis types 1 and 2 due to monosomy 3q23 Blepharophimosis types 1 and 2 due to polyA expansion Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency Blepharophimosis-intellectual disability syndrome type V Blepharophimosis-intellectual disability syndrome, Maat-KievitBrunner type Blepharophimosis-intellectual disability syndrome, MKB type Blepharophimosis-intellectual disability syndrome, Ohdo type Blepharophimosis-intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, Verloes type Blepharoptosis - cleft palate ectrodactyly - dental anomalies Blepharoptosis - myopia - ectopia lentis Blepharospasm - oromandibular dystonia Blindness-scoliosis-arachnodactyly syndrome Bloch-Siemens syndrome Bloch-Sulzberger syndrome Blomstrand chondrodysplasia Blomstrand lethal chondrodysplasia Blomstrand osteochondrodysplasia Bloom syndrome Blount disease Blue colour blindness Blue cone monochromacy Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus Blue-dot cataract BMAH BMD BMD BMRS type V BMRS, Maat-Kievit-Brunner type BMRS, MKB type BMRS, Ohdo type BMRS, Verloes type BNAR syndrome BOCD Bockenheimer syndrome BOD syndrome Boder syndrome Body cavity-based lymphoma ORPHA number Disease name Body skin hyperlaxity due to 91135 vitamin K-dependent coagulation 797 797 1297 97297 97297 84081 401874 319229 85182 1844 1842 2050 300284 88 2934 163 2941 1261 53719 1263 1303 1933 107 206473 206473 127 1264 90001 36273 97297 69737 2250 85128 128 1267 1180 805 83313 3331 →912 1270 1270 97353 factor deficiency Boeck sarcoid Boeck's sarcoid BOFS Bohring syndrome Bohring-Opitz syndrome Boichis disease BOLA3 deficiency Bolivian hemorrhagic fever Bone dysplasia - medullary fibrosarcoma Bone dysplasia, Azouz type Bone dysplasia, lethal Holmgren type Bone fragility - craniosynostosis proptosis - hydrocephalus Bone fragility-contractures-arterial rupture-deafness syndrome Bone marrow failure Bonneau syndrome Bonneau-Beaumont syndrome Bonnemann-Meinecke syndrome Bonnemann-Meinecke-Reich syndrome Bonnet-Dechaume-Blanc syndrome Boomerang dysplasia BOOP Booth-Haworth-Dilling syndrome BOR syndrome Borderline epithelial tumor of ovary Borderline ovarian epithelial tumor Borjeson-Forssman-Lehmann syndrome Bork syndrome Bornholm eye disease Borrmann gastric cancer type 4 BOS syndrome Bosley-Salih-Alorainy syndrome Bosma-Henkin-Christiansen syndrome Bothnia retinal dystrophy Bothriocephalosis Botulism Boucher-Neuhäuser syndrome Bourneville syndrome Boutonneuse fever Bowed tibiae - radial anomalies osteopenia - fractures Bowen syndrome Bowen syndrome, Hutterite type Bowen-Conradi syndrome Boxer's dementia ORPHA Disease name number 50814 Boyadjiev-Jabs syndrome 2680 Boylan-Dew syndrome 329284 BPAN 70589 86870 97342 2901 199 1519 1272 2619 1276 1275 1275 2946 1277 1246 1278 2956 294996 295130 295128 294998 295134 295132 93388 93396 93394 93389 93382 93397 93383 140908 93384 93387 93395 93388 2946 93396 93397 93394 1001 391646 BPD BPDCN Braak disease Brachial plexus neuritis Brachmann-de Lange syndrome Brachycephalofrontonasal dysplasia Brachycephaly - deafness - cataract - intellectual disability Brachydactylous dwarfism, Mseleni type Brachydactyly - arterial hypertension Brachydactyly - elbow wrist dysplasia Brachydactyly - joint dysplasia Brachydactyly - long thumb Brachydactyly - mesomelia intellectual disability - heart defects Brachydactyly - nystagmus cerebellar ataxia Brachydactyly - preaxial hallux varus Brachydactyly - scoliosis - carpal fusion Brachydactyly of fingers Brachydactyly of fingers, bilateral Brachydactyly of fingers, unilateral Brachydactyly of toes Brachydactyly of toes, bilateral Brachydactyly of toes, unilateral Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly types B and E combined Brachydactyly, Farabee type Brachydactyly, long thumb type Brachydactyly, Mohr-Wriedt type Brachydactyly, Smorgasbord type Brachydactyly, Temtamy type Brachydactyly-intellectual disability Brachydactyly-short staturemicrocephaly syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 25 ORPHA number 3168 93409 93394 1292 93301 93303 93302 93304 93302 2899 79345 1295 441 52047 3323 1538 75374 178506 168598 352649 75389 36383 209905 255182 511 511 1296 1297 52429 1299 50815 107 79133 2669 319239 1945 85284 85284 65682 99960 Disease name Brachydactyly-symphalangism syndrome Brachydactyly-syndactyly, Zhao type Brachymesophalangy II and V Brachymorphism - onychodysplasia - dysphalangism Brachyolmia type 1, Hobaek type Brachyolmia type 1, Toledo type Brachyolmia type 2 Brachyolmia type 3 Brachyolmia, Maroteaux type Brachyolmia-amelogenesis imperfecta syndrome Brachytelephalangic chondrodysplasia punctata Brachytelephalangy - dysmorphism - Kallmann syndrome Bradbury-Eggleston syndrome Braddock syndrome Braddock-Carey syndrome Braddock-Jones-Superneau syndrome Bradyopsia Brain calcification, Rajab type Brain demyelination due to methionine adenosyltransferase deficiency Brain dopamine-serotonin vesicular transport disease Brain malformation - congenital heart disease - postaxial polydactyly Brain small vessel disease with hemorrhage Brain-lung-thyroid syndrome Branched chain alpha-ketoacid dehydrogenase complex deficiency Branched-chain 2-ketoacid dehydrogenase deficiency Branched-chain ketoaciduria Branchial dysplasia - intellectual disability - inguinal hernia Branchio-oculo-facial syndrome Branchio-otic syndrome Branchio-skeleto-genital syndrome Branchiogenic deafness syndrome Branchiootorenal syndrome Brauer syndrome Braun-Bayer syndrome Brazilian hemorrhagic fever BRE BRESEK syndrome BRESHECK syndrome BRIC BRIC1 ORPHA Disease name number 99961 BRIC2 99960 BRIC type 1 99961 BRIC type 2 99990 99990 666 90354 3123 →33364 783 783 412 53347 97287 97287 97287 →3471 1302 1303 2357 70589 1116 99829 79493 97229 109 2353 1304 2771 130 1305 391641 391646 528 1060 47 528 79304 100976 46489 1980 125 65284 79241 111 47 2314 131 36258 481 2285 Brill disease Brill-Zinsser disease Brittle bone disease Brittle cornea syndrome Brittle hair - mental deficiency Brittle hair syndrome, Sabinas type Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Broad-betalipoproteinemia Brody myopathy Bronchial carcinoid tumor Bronchial endocrine tumor Bronchial neuroendocrine tumor Bronchiectasis - oligospermia Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans with obstructive pulmonary disease Bronchogenic cyst Bronchopulmonary dysplasia Bronspiegel-Zelnick syndrome Bronze John Brooke-Spiegler syndrome Brown-Vialetto-van Laere syndrome BRRS BRSS Brucellosis Bruck syndrome Brugada syndrome Brunner-Winter syndrome Brunner-Winter syndrome type 1 Brunner-Winter syndrome type 2 Brunzell syndrome Brunzell syndrome Bruton type agammaglobulinemia BSCL BSEP deficiency BSI BSLE BSPDC BSyn BTBGD BTD deficiency BTHS BTK-deficiency Buckley syndrome Budd-Chiari syndrome Buerger disease Bulbospinal muscular atrophy Bull-Nixon syndrome ORPHA number Disease name Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform 312 erythroderma of Brock 280785 Bullous DCM Bullous diffuse cutaneous 280785 mastocytosis 1867 Bullous dystrophy, macular type 312 Bullous ichthyosis 36237 Bullous impetigo 33408 Bullous lichen planus 703 Bullous pemphigoid Bullous systemic lupus 46489 erythematosus 3271 Buntinx-Lormans-Martin syndrome 98976 Buphthalmia 98976 Buphthalmos 98976 Buphthalmus 543 Burkitt lymphoma 1200 Burn-McKeown syndrome 800 Burton disease 800 Burton skeletal dysplasia 800 Burton syndrome 352763 Buschke scleredema 79501 Buschke-Fischer-Brauer syndrome 1306 Buschke-Ollendorff syndrome Butterfly-shaped pigment 99001 dystrophy 1307 Buttiens-Fryns syndrome 132 Butyrylcholinesterase deficiency 275864 bv-FTD 1243 BVMD 116 BWS 79306 Byler disease 1262 Böök syndrome 280133 C3 deficiency C3 deposition glomerulonephritis →329931 without proliferation 329931 C3 glomerulonephritis 329918 C3 glomerulopathy C9ORF72-related Huntington 401901 disease phenocopy C9ORF72-related Huntington 401901 disease-like syndrome 1308 C syndrome 231242 C-beta-thalassemia 97297 C-like syndrome 401948 CA-VA deficiency 85293 Cabezas syndrome 1309 Cacchi-Ricci disease 75377 CACD 135 CACH syndrome 2848 CACP syndrome 159 CACT deficiency 312 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 26 ORPHA number 56425 CAD 136 CADASIL 369942 CADDS 1578 1310 90791 90795 90793 1375 99429 199260 90290 280065 1416 1408 228123 83483 85192 1317 3003 2163 →1466 79395 83472 1318 140 140 1319 1320 1320 376 1321 1323 3447 85164 1325 295016 1327 1326 2848 Disease name CADH deficiency Caffey disease CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency CAH due to 11-beta-hydroxylase deficiency CAH due to 17-alpha-hydroxylase deficiency CAHMR syndrome CAIS Calcified aponeurotic fibroma Calcinosis - Raynaud phenomenon esophageal involvement sclerodactyly - telangiectasia Calciphylaxis cutis Calcium pyrophosphate dihydrate crystal deposition disease Calderón-González-Cantu syndrome California disease Californian encephalitis Calvarial doughnut lesions - bone fragility CAMAK syndrome Camera syndrome Camero-Lituania-Cohen syndrome CAMFAK syndrome Camisa disease CAMOS syndrome Campomelia, Cumming type Campomelic dwarfism Campomelic dysplasia Camptobrachydactyly Camptocormia Camptocormism Camptodactyly - cleft palateclubfoot Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia Camptodactyly - joint contractures facial skeletal defects Camptodactyly - overgrowth unusual facies Camptodactyly - tall stature scoliosis - hearing loss Camptodactyly - taurinuria Camptodactyly of fingers Camptodactyly syndrome, Guadalajara type 1 Camptodactyly syndrome, Guadalajara type 2 Camptodactyly-arthropathy-coxavara-pericarditis syndrome ORPHA Disease name number 1766 CAMRQ syndrome 141194 CAMS1 53719 CAMS2 141199 CAMS3 3319 CAMT 1328 3261 141 289385 180242 71505 2700 325004 71279 2233 1335 1335 363705 171881 160148 171881 160148 85199 166260 75327 75327 188 188 79490 79490 137667 1171 171839 71505 199354 147 147 147 147 1923 79318 79319 79320 Camurati-Engelmann disease Canale-Smith syndrome Canavan disease Cancer diagnosed during pregnancy Cancer of fallopian tubes Cancer-associated retinopathy Cancrum oris CANDLE syndrome CANOMAD syndrome Cantalamessa-Baldini-Ambrosi syndrome Cantrell deformity Cantrell syndrome Cantu craniofaciofrontodigital syndrome Cap disease Cap inflammatory polyposis Cap myopathy Cap polyposis CAP syndrome Capdepont teeth CAPE dystrophy CAPED Capillary hyperpermeability syndrome Capillary leak syndrome Capillary lymphangioma Capillary lymphatic malformation Capillary malformation arteriovenous malformation CAPOS syndrome Capra-DeMarco syndrome CAR syndrome CARASIL Carbamoyl-phosphate synthase 1 deficiency Carbamoyl-phosphate synthase deficiency Carbamoyl-phosphate synthetase 1 deficiency Carbamoyl-phosphate synthetase deficiency Carbimazole embryofetopathy Carbohydrate deficient glycoprotein syndrome type Ia Carbohydrate deficient glycoprotein syndrome type Ib Carbohydrate deficient glycoprotein syndrome type Ic ORPHA number 79321 79322 79323 79324 79325 79326 79329 79330 79332 79333 238459 263508 95428 263487 263501 86309 79327 79328 91131 244310 263494 280071 300536 329178 306686 2785 213605 424019 424996 423994 Disease name Carbohydrate deficient glycoprotein syndrome type Id Carbohydrate deficient glycoprotein syndrome type Ie Carbohydrate deficient glycoprotein syndrome type If Carbohydrate deficient glycoprotein syndrome type Ig Carbohydrate deficient glycoprotein syndrome type Ih Carbohydrate deficient glycoprotein syndrome type Ii Carbohydrate deficient glycoprotein syndrome type IIa Carbohydrate deficient glycoprotein syndrome type IIb Carbohydrate deficient glycoprotein syndrome type IId Carbohydrate deficient glycoprotein syndrome type IIe Carbohydrate deficient glycoprotein syndrome type IIf Carbohydrate deficient glycoprotein syndrome type IIg Carbohydrate deficient glycoprotein syndrome type IIh Carbohydrate deficient glycoprotein syndrome type IIi Carbohydrate deficient glycoprotein syndrome type IIj Carbohydrate deficient glycoprotein syndrome type Ij Carbohydrate deficient glycoprotein syndrome type Ik Carbohydrate deficient glycoprotein syndrome type IL Carbohydrate deficient glycoprotein syndrome type Im Carbohydrate deficient glycoprotein syndrome type In Carbohydrate deficient glycoprotein syndrome type Io Carbohydrate deficient glycoprotein syndrome type Ip Carbohydrate deficient glycoprotein syndrome type Ir Carbohydrate deficient glycoprotein syndrome type Iu Carbon monoxide-induced parkinsonism Carbonic anhydrase 2 deficiency Carcinofibroma of the corpus uteri Carcinoid carcinoma of anal canal Carcinoid carcinoma of ballblader and EBT Carcinoid carcinoma of colon → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 27 ORPHA number 424996 424975 424975 424039 424002 423968 423968 418959 100093 97289 319308 418945 423781 300557 137628 369891 168796 1686 208600 875 2872 37553 1340 97292 2229 1342 500 1345 91130 90022 70474 70474 111 111 3238 Disease name Carcinoid carcinoma of gallbladder and extrahepatic biliary tract Carcinoid carcinoma of liver and IBT Carcinoid carcinoma of liver and intrahepatic biliary tract Carcinoid carcinoma of pancreas Carcinoid carcinoma of rectum Carcinoid carcinoma of small bowel Carcinoid carcinoma of small intestine Carcinoid carcinoma of stomach Carcinoid tumor and carcinoid syndrome Carcinoid tumor of thymus Carcinoma associated with MITF/TFE translocation Carcinoma of esophagus, salivary gland type Carcinoma of stomach, salivary gland type Carcinoma of the ampulla of Vater Cardiac anomalies - heterotaxy Cardiac anomalies-developmental delay-facial dysmorphism syndrome Cardiac conduction disease - dilated cardiomyopathy - brachydactyly Cardiac diverticulum Cardiac papillary fibroelastoma Cardiac tumor of the child Cardiocranial syndrome, Pfeiffer type Cardiodysrhythmic potassiumsensitive periodic paralysis Cardiofaciocutaneous syndrome Cardiogenic shock Cardiogenital syndrome Cardiomelic syndrome type 3 Cardiomyopathic lentiginosis Cardiomyopathy - cataract - hip spine disease Cardiomyopathy - hypotonia - lactic acidosis Cardiomyopathy - renal anomalies Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency Cardiomyopathy with myopathy due to COX deficiency Cardioskeletal myopathy with neutropenia and abnormal mitochondria Cardioskeletal myopathyneutropenia Cardiospondylocarpofacial syndrome ORPHA Disease name number 2072 Cardiovascular Gaucher disease 1358 Carey-Fineman-Ziter syndrome 79403 Carmi syndrome →293843 Carnevale syndrome 2947 2998 1359 319340 319340 97286 1359 139411 97286 97286 42 156 228302 228305 228308 228302 228308 228305 156 228302 228305 228308 228302 228308 228305 157 157 Carnevale-Hernández-del Castillo syndrome Carnevale-Krajewska-Fischetto syndrome Carney complex Carney complex variant Carney complex-trismuspseudocamptodactyly syndrome Carney dyad Carney syndrome Carney triad Carney-Stratakis dyad Carney-Stratakis syndrome Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency Carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyl transferase deficiency type 2, adult-onset form Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, myopathic form Carnitine palmitoyl transferase deficiency type 2, neonatal form Carnitine palmitoyl transferase deficiency type 2, severe infantile form Carnitine palmitoyl transferase IA deficiency Carnitine palmitoyl transferase II deficiency, adult-onset form Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form Carnitine palmitoyl transferase II deficiency, lethal systemic form Carnitine palmitoyl transferase II deficiency, myopathic form Carnitine palmitoyl transferase II deficiency, neonatal form Carnitine palmitoyl transferase II deficiency, severe infantile form Carnitine palmitoyltransferase deficiency type 2 Carnitine palmitoyltransferase II deficiency ORPHA Disease name number 158 Carnitine transporter defect 158 Carnitine uptake deficiency 159 1361 1361 53035 65759 93973 2767 64692 175 1838 65282 209908 56425 94095 275517 275517 1101 160 2513 195 50839 926 1373 1366 1368 1383 1375 1381 1387 1317 1317 2712 1380 98985 98987 314993 162 1377 Carnitine-acylcarnitine translocase deficiency Carnosinase deficiency Carnosinemia Caroli disease Carpenter syndrome Carpenter-Waziri syndrome Carpotarsal osteochondromatosis Carrion disease Cartilage-hair hypoplasia Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis Carvajal syndrome CAS CAS Casamassima-Morton-Nance syndrome Caspase 8 deficiency syndrome Caspase eight deficiency state Cassia Stocco dos Santos syndrome Castleman disease Castro Gago-Pombo-Novo syndrome Cat-eye syndrome Cat-scratch disease Catalase deficiency Cataract - aberrant oral frenula growth delay Cataract - alopecia - sclerodactyly Cataract - ataxia - deafness Cataract - deafness - hypogonadism Cataract - hypertrichosis intellectual disability Cataract - intellectual disability anal atresia - urinary defects Cataract - intellectual disability hypogonadism Cataract - microcephaly arthrogryposis - kyphosis Cataract - microcephaly - failure to thrive - kyphoscoliosis Cataract - microphthalmia radiculomegaly - septal heart defect Cataract - nephropathy encephalopathy Cataract with Y-shaped suture opacities Cataract, Hutterite type Cataract-congenital heart diseaseneural tube defect syndrome Cataract-glaucoma Cataract-microcornea syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 28 ORPHA number 100990 567 3286 800 1388 228337 60015 85164 1123 1756 3027 3027 99994 1329 99068 99066 99067 99066 99067 99068 2124 79489 79489 165958 567 94122 363972 79282 79283 79284 369955 70567 115 2444 280832 280840 280847 98972 48431 2008 99827 661 289499 319276 2505 280779 86870 98841 293825 Disease name Cataracts motor neuropathy - short stature - skeletal anomalies CATCH 22 Catecholaminergic polymorphic ventricular tachycardia Catel-Hempel syndrome Catel-Manzke syndrome Cathepsin D deficiency Catlin marks CATSHL syndrome Caudal appendage - deafness Caudal duplication Caudal dysplasia Caudal regression sequence Causalgia CAVC CAVC - Fallot tetralogy CAVC - left heart obstruction CAVC - ventricle hypoplasia CAVC type A CAVC type B CAVC type C Cavernous hemangiomas of face supraumbilical midline raphe Cavernous lymphangioma Cavernous lymphatic malformation Cavitary myiasis Cayler cardiofacial syndrome Cayman ataxia CBL syndrome CblC defect CblD defect CblF defect CblJ defects CCA CCA syndrome CCAM CCAM type 1 CCAM type 2 CCAM type 3 CCDF CCFDN CCGE syndrome CCHF CCHS CCMCO CCRCC CCSF CCV CD4+/CD56+ hematodermic neoplasm CD30 positive anaplastic large cell lymphoma CDA due to KLF1 mutation ORPHA number 98869 CDA I 98873 CDA II 98870 CDA III Disease name 293825 CDA IV 98869 CDA type 1 98873 98870 293825 98869 98873 98870 293825 85199 293825 247203 79318 79319 79320 79321 79322 79323 79324 79325 79326 86309 79327 79328 91131 244310 263494 280071 324737 300536 324422 319646 329178 404454 79329 79330 99843 79332 79333 238459 263508 95428 263487 263501 314667 356961 79318 79319 79320 79321 CDA type 2 CDA type 3 CDA type 4 CDA type I CDA type II CDA type III CDA type IV CDAGS syndrome CDAN4 CDC CDG1A CDG1B CDG1C CDG1D CDG1E CDG1F CDG1G CDG1H CDG1I CDG1J CDG1K CDG1L CDG1M CDG1N CDG1O CDG1P CDG1Q CDG1R CDG1S CDG1t CDG1U CDG1V CDG2A CDG2B CDG2C CDG2D CDG2E CDG2F CDG2G CDG2H CDG2I CDG2J CDG2K CDG2M CDG syndrome type Ia CDG syndrome type Ib CDG syndrome type Ic CDG syndrome type Id ORPHA Disease name number 79322 CDG syndrome type Ie 79323 CDG syndrome type If 79324 CDG syndrome type Ig 79325 79326 79329 79330 99843 79332 79333 238459 263508 95428 263487 263501 314667 356961 86309 79327 79328 91131 244310 263494 280071 300536 324422 319646 329178 79318 79319 79320 79321 79322 79323 79324 79325 79326 79329 79330 99843 79332 79333 238459 263508 95428 263487 263501 314667 356961 86309 79327 79328 91131 CDG syndrome type Ih CDG syndrome type Ii CDG syndrome type IIa CDG syndrome type IIb CDG syndrome type IIc CDG syndrome type IId CDG syndrome type IIe CDG syndrome type IIf CDG syndrome type IIg CDG syndrome type IIh CDG syndrome type IIi CDG syndrome type IIj CDG syndrome type IIk CDG syndrome type IIm CDG syndrome type Ij CDG syndrome type Ik CDG syndrome type IL CDG syndrome type Im CDG syndrome type In CDG syndrome type Io CDG syndrome type Ip CDG syndrome type Ir CDG syndrome type Is CDG syndrome type It CDG syndrome type Iu CDG-Ia CDG-Ib CDG-Ic CDG-Id CDG-Ie CDG-If CDG-Ig CDG-Ih CDG-Ii CDG-IIa CDG-IIb CDG-IIc CDG-IId CDG-IIe CDG-IIf CDG-IIg CDG-IIh CDG-IIi CDG-IIj CDG-IIk CDG-IIm CDG-Ij CDG-Ik CDG-IL CDG-Im → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 29 ORPHA number 244310 CDG-In 263494 CDG-Io 280071 CDG-Ip Disease name 324737 CDG-Iq 300536 CDG-Ir 324422 CDG-Is 319646 CDG-It 329178 CDG-Iu 2140 CDH ORPHA Disease name number 295010 Central polydactyly of toes 295185 295183 759 75327 411527 CDHS 90156 178029 CDI 1490 CDPD 89841 1529 35173 35173 158 1459 2718 1515 66631 275517 1459 293208 93942 3258 3258 3258 75377 75377 75327 2431 98972 98972 661 597 178029 →98967 99832 3240 73256 295004 295173 295171 295010 295004 CDPX2 CDPXD CDSP CEC Cecato de Lima-Pinheiro syndrome CED CEDNIK syndrome CEDS Celiac disease, epilepsy and cerebral calcification syndrome Celiac trunk compression syndrome Celosomia Cenani syndactyly Cenani-Lenz syndactyly Cenani-Lenz syndrome Central areolar choroidal dystrophy Central areolar choroidal sclerosis Central areolar pigment epithelial dystrophy Central bilateral macrogyria Central cloudy corneal dystrophy of Francois Central cloudy dystrophy of Francois Central congenital hypoventilation syndrome Central core disease Central diabetes insipidus Central discoid corneal dystrophy Central hypothyroidism due to TRH receptor deficiency Central nervous system calcification - deafness - tubular acidosis anemia Central neurocytoma Central polydactyly of fingers Central polydactyly of fingers, bilateral Central polydactyly of fingers, unilateral Central polydactyly of foot Central polydactyly of hand 89841 89841 319160 1945 79277 2398 79506 333 1171 1174 1173 1766 83472 276183 94122 97249 2246 251931 251858 94147 1454 2318 475 1532 1397 46724 46724 Central polydactyly of toes, bilateral Central polydactyly of toes, unilateral Central precocious puberty Central retinal pigment epithelial dystrophy Central retinal vein occlusion Centrifugal lipodystrophy Centripetal dystrophic epidermolysis bullosa Centripetal recessive dystrophic epidermolysis bullosa Centripetalis recessive dystrophic epidermolysis bullosa Centronuclear myopathy type 4 Centrotemporal epilepsy CEP Cephalothoracic lipodystrophy CEPT deficiency Ceramidase deficiency Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss Cerebellar ataxia - ectodermal dysplasia Cerebellar ataxia - hypogonadism Cerebellar ataxia - intellectual disability - dysequilibrium syndrome Cerebellar ataxia - intellectual disability - optic atrophy - skin abnormalities Cerebellar ataxia with azoospermia and intellectual disability Cerebellar ataxia, Cayman type Cerebellar atrophy with progressive microcephaly Cerebellar hypoplasia tapetoretinal degeneration Cerebellar liponeurocytoma Cerebellar neuroblastoma Cerebellar syndrome - pigmentary maculopathy Cerebellar vermis hypoplasia oligophrenia - congenital ataxia coloboma - hepatic fibrosis Cerebello-oculo-renal syndrome Cerebelloparenchymal disorder IV Cerebellotrigeminal - dermal dysplasia Cerebellum agenesis - hydrocephaly Cerebral arteriovenous fistula Cerebral arteriovenous malformation ORPHA Disease name number 46724 Cerebral arteriovenous shunt 136 199354 66631 821 2081 2691 77261 221126 329217 1393 397922 314679 1394 1458 94084 66625 1396 141194 53719 141199 2995 912 2406 1466 313838 3421 909 1980 169079 169079 169079 98989 213772 213828 213823 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Cerebral dysgenesis-neuropathyichthyosis-palmoplantar keratoderma syndrome Cerebral gigantism Cerebral gigantism - jaw cysts Cerebral gigantism, Nevo type Cerebral juvenile and adult form of Gaucher disease Cerebral proliferative glomeruloid vasculopathy Cerebral sinovenous thrombosis Cerebro-costo-mandibular syndrome Cerebro-cutaneous syndrome with iron overload Cerebro-facio-articular syndrome Cerebro-facio-thoracic dysplasia Cerebro-oculo-dento-auriculoskeletal syndrome Cerebro-oculo-facial-lymphatic syndrome Cerebro-oculo-nasal syndrome Cerebro-reno-digital syndrome Cerebrofacial arteriovenous metameric syndrome type 1 Cerebrofacial arteriovenous metameric syndrome type 2 Cerebrofacial arteriovenous metameric syndrome type 3 Cerebrofrontofacial syndrome type 3 Cerebrohepatorenal syndrome Cerebromedullospinal disconnection Cerebrooculofacioskeletal syndrome Cerebroretinal microangiopathy with calcifications and cysts Cerebroretinal vasculopathy Cerebrotendinous xanthomatosis Cerebrovascular ferrocalcinosis Cernunnos deficiency Cernunnos XLFD Cernunnos-XLF deficiency Cerulean cataract Cervical adenocarcinoma Cervical adenoid basal carcinoma Cervical adenoid cystic carcinoma → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 30 ORPHA Disease name number 213792 Cervical adenosarcoma 99079 Cervical aortic arch 141046 Cervical dermoid cyst 93962 213837 2218 213807 213837 213787 213812 213817 213812 213802 268392 268762 213767 3456 141067 141067 137923 268397 268766 586 2032 1340 1520 1520 2020 379 2026 2388 307766 307766 3386 →1071 98979 1401 2235 88642 3282 319244 46627 1964 803 90658 90103 Cervical dystonia Cervical germ cell cancer Cervical hypertrichosis - peripheral neuropathy Cervical leiomyosarcoma Cervical malignant germ cell tumor Cervical malignant müllerian mixed tumor Cervical malignant peripheral neuroectodermal tumor Cervical papillary carcinoma Cervical peripheral neuroectodermal cancer Cervical rhabdomyosarcoma Cervical spina bifida aperta Cervical spina bifida cystica Cervical squamous cell carcinoma Cervico-oculo-acoustic syndrome Cervicofacial enchondroma Cervicofacial fibrochondroma Cervicofacial lymphatic malformation Cervicothoracic spina bifida aperta Cervicothoracic spina bifida cystica CF CFA CFC syndrome CFND CFNS CFTDM CGD CGHT ChAc CHAC syndrome CHACS Chagas disease CHAND syndrome Chandler syndrome CHANDS Chang-Davidson-Carlson syndrome Channelopathy-associated congenital insensitivity to pain Chaotic atrial tachycardia Chapare hemorrhagic fever Char syndrome Char-Douglas-Dungan syndrome Charcot disease Charcot-Marie-Tooth disease deafness Charcot-Marie-Tooth disease deafness - intellectual disability ORPHA number 93114 64751 101081 101082 101083 101084 90658 101085 98856 101101 101102 397968 64748 99948 99955 99956 363981 99949 99950 99951 99952 99953 99954 139515 391351 90120 363981 138 138 1496 1406 Disease name Charcot-Marie-Tooth disease nephropathy Charcot-Marie-Tooth disease pyramidal features Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2H Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease type 4K Charcot-Marie-Tooth disease type 6 Charcot-Marie-Tooth disease with focally folded myelin CHARGE association CHARGE syndrome Charlevoix disease Charlie M syndrome ORPHA Disease name number 168577 CHC type 2 98975 CHED1 293603 CHED2 98975 CHEDI 293603 CHEDII 1221 Cheilitis glandularis 99647 955 812 184 3019 2113 268882 1136 268882 1136 33402 324625 90280 139 139 64280 209908 135 168782 293955 391497 363677 284324 33402 247667 171439 247667 247667 101000 3474 2888 3218 3331 757 Cheirospondyloenchondromatosis Cheney syndrome Cherry-red spot-myoclonus syndrome Cherubism Cherubism - gingival fibromatosis intellectual disability CHHS Chiari malformation type 1 Chiari malformation type 2 Chiari malformation type I Chiari malformation type II Chidhood-onset HCC Chikungunya Chilblain lupus CHILD nevus CHILD syndrome Childhood absence epilepsy Childhood apraxia of speech Childhood ataxia with diffuse central nervous system hypomyelination Childhood disintegrative disorder Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Childhood myasthenia gravis Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Childhood-onset hepatocellular carcinoma Childhood-onset hypophosphatasia Childhood-onset nemaline myopathy Childhood-onset phosphoethanolaminuria Childhood-onset Rathburn disease Childhood-onset spastic paraparesis - distal muscle wasting CHIME syndrome Chitayat-Meunier-Hodgkinson syndrome Chitty-Hall-Baraitser syndrome Chitty-Hall-Webb syndrome Chloride shunt syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 31 ORPHA Disease name number 86850 Chloroma 180 CHM 137914 Choanal atresia 137920 Choanal atresia, bilateral 137917 Choanal atresia, unilateral 1200 70567 69663 173 1415 79303 1414 102069 3438 75234 79506 75234 166272 1422 1422 79344 79346 79347 263463 280586 3144 50945 2098 35173 289 319195 404507 55880 251674 178 2388 2388 Choanal atresia-deafness-cardiac defects-dysmorphism syndrome Cholangiocarcinoma Cholelithiasis with ABCB4 gene mutation Cholera Cholestasis - pigmentary retinopathy - cleft palate Cholestasis, with delta(4)-3oxosteroid 5-beta-reductase deficiency Cholestasis-lymphedema syndrome Cholestatic hepatic amyloidosis Cholestatic jaundice - renal tubular insufficiency Cholesterol ester storage disease Cholesterol-ester transfer protein deficiency Cholesteryl ester storage disease Chondrodysplasia - dentinogenesis imperfecta - joint laxity Chondrodysplasia - disorder of sex development Chondrodysplasia pseudohermaphroditism Chondrodysplasia punctata, Sheffield type Chondrodysplasia punctata, tibialmetacarpal type Chondrodysplasia punctata, Toriello type Chondrodysplasia with congenital joint dislocations, CHST3 type Chondrodysplasia with joint dislocations, gPAPP type Chondrodysplasia with snail-like pelvis Chondrodysplasia, Blomstrand type Chondrodysplasia, Grebe type Chondrodystrophia calcificans congenita Chondroectodermal dysplasia Chondroectodermal dysplasia with night blindness Chondromyxoid fibroma Chondrosarcoma Chordoid glioma Chordoma Chorea-acanthocytosis Choreoacanthocytosis ORPHA number 209905 252015 91353 251899 1433 39044 180 1435 1434 94087 181 1436 2621 85278 1808 98879 1201 182 182 319303 319303 1450 3380 195 330064 314928 99871 99873 137817 71279 325004 2137 133 133 133 56425 79078 103907 314373 Disease name Choreoathetosis - hypothyroidism neonatal respiratory distress Choriocarcinoma of the central nervous system Choristoma Choroid plexus carcinoma Choroidal atrophy - alopecia Choroidal melanoma Choroideremia Choroideremia - deafness - obesity Choroideremia - hypopituitarism CHP Christ-Siemens-Touraine syndrome Christian syndrome Christian-Rosenberg syndrome Christianson syndrome Christianson-Fourie syndrome Christmas disease Christmas tree syndrome Chromoblastomycosis Chromomycosis Chromophobe renal cell adenocarcinoma Chromophobe renal cell carcinoma Chromosome 8-derived supernumerary ring /marker Chromosome 18 duplication Chromosome 22 inversion/duplication Chronic actinic dermatitis Chronic adult hydrocephalus Chronic and localized Langerhans cell histiocytosis Chronic and multifocal Langerhans cell histiocytosis Chronic arachnoiditis Chronic ataxic neuropathy ophthalmoplegia - IgM paraprotein cold agglutinins - disialosyl antibodies Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome Chronic autoimmune hepatitis Chronic berylliosis Chronic beryllium disease Chronic beryllium lung disease Chronic cold agglutinin disease Chronic dacryoadenitis and sialoadenitis Chronic diarrhea due to glucoamylase deficiency Chronic diarrhea due to guanylate cyclase 2C overactivity ORPHA number 397606 397606 1670 279891 168940 2902 99921 521 379 396 396 1451 83418 2932 2932 294422 2978 284448 1334 1334 521 521 98823 77261 86829 95426 91359 324964 77297 217566 71279 379 83418 70591 97353 37748 Disease name Chronic diarrhea with hereditary sensory and autonomic neuropathy Chronic diarrhea with HSAN Chronic diarrhea with villous atrophy Chronic endophthalmitis Chronic eosinophilic leukemia Chronic eosinophilic pneumonia Chronic graft versus host disease Chronic granulocytic leukemia Chronic granulomatous disease Chronic hiccough Chronic hiccup Chronic infantile neurological cutaneous articular syndrome Chronic infantile spinal muscular atrophy Chronic inflammatory demyelinating polyneuropathy Chronic inflammatory demyelinating polyradiculoneuropathy Chronic intestinal failure Chronic intestinal pseudoobstruction Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids Chronic mucocutaneous candidiasis Chronic mucocutaneous candidosis Chronic myelogenous leukemia Chronic myeloid leukemia Chronic myelomonocytic leukemia Chronic neuronopathic Gaucher disease Chronic neutrophilic leukemia Chronic pain requiring intraspinal analgesia Chronic pneumonitis of infancy Chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia neutrophilic dermatosis Chronic respiratory distress with surfactant metabolism deficiency Chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies Chronic septic granulomatosis Chronic spinal muscular atrophy Chronic thromboembolic pulmonary hypertension Chronic traumatic encephalopathy Chronic urticaria with gammapathy → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 32 ORPHA number 37748 263463 2953 2953 93971 93971 314597 3068 183 238557 238557 71 1160 167 167 381 167 46486 217390 317473 317476 317428 157949 317430 314689 231154 231154 2932 79394 294422 1223 2114 1451 2978 217410 217410 69744 309854 57777 240863 157820 247525 247585 247525 247585 251383 Disease name Chronic urticaria with macroglobulinemia CHST3-related skeletal dysplasia CHST14-related EDS CHST14-related Ehlers-Danlos syndrome Chudley-Lowry syndrome Chudley-Lowry-Hoar syndrome Chudley-McCullough syndrome Chudley-Rozdilsky syndrome Churg-Strauss syndrome Chuvash erythrocytosis Chuvash polycythemia Chylomicron retention disease Chylous ascites Chédiak-Higashi disease Chédiak-Higashi syndrome Chédiak-Higashi-like syndrome Chédiak-Higashi-Steinbrink syndrome Cicatricial pemphigoid CID due to DOCK8 deficiency CID due to ikaros deficiency CID due to MAGT1 deficiency CID due to ORAI1 deficiency CID due to RAG 1/2 deficiency CID due to STIM1 deficiency CID due to STK4 deficiency CID T+ B+ due to partial RAG1 deficiency CID with expansion of gamma delta T cells CIDP CIE CIF Ciliary dysentery Cilliers-Beighton syndrome CINCA syndrome CIPO Circumscribed lymphangioma Circumscribed lymphatic malformation Circumscribed palmoplantar hypokeratosis Cirrhosis-dystonia-polycythemiahypermanganesemia syndrome Cirrhotic cardiomyopathy Cisplatin toxicity CISS Citrullinemia type 1 Citrullinemia type 2 Citrullinemia type I Citrullinemia type II CK syndrome ORPHA Disease name number 90790 CLAH 97249 CLAM 168984 CLAPO syndrome 188 90794 315306 315311 85138 329977 329977 93605 268145 268145 268145 247525 247546 247546 325524 90794 315306 315311 325524 329977 93930 79239 98962 289857 98962 391 391 98845 98844 98843 394 475 313 98964 268145 158796 251867 Clarkson disease Classic 21-OHD CAH Classic 21-OHD CAH, salt wasting form Classic 21-OHD CAH, simple virilizing form Classic Addison's disease Classic appendiceal endocrine tumor Classic appendix endocrine tumor Classic Bartter syndrome Classic BCKD deficiency Classic branched-chain 2-ketoacid dehydrogenase deficiency Classic branched-chain ketoaciduria Classic citrullinemia Classic citrullinemia type 1 Classic citrullinemia type I Classic CLAH Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Classic congenital lipoid adrenal hyperplasia due to STAR deficency Classic endocrine tumor of appendix Classic exstrophy of the bladder Classic galactosemia Classic GCD Classic glycine encephalopathy Classic granular corneal dystrophy Classic Hodgkin disease Classic Hodgkin lymphoma Classic Hodgkin lymphoma, lymphocyte-rich type Classic Hodgkin lymphoma, mixed cellularity type Classic Hodgkin lymphoma, nodular sclerosis type Classic homocystinuria Classic Joubert syndrome Classic lamellar ichthyosis Classic lattice corneal dystrophy Classic maple syrup urine disease Classic mast cell leukemia Classic medulloblastoma ORPHA Disease name number 324604 Classic MmD 268145 Classic MSUD 324604 Classic multiminicore disease 324604 Classic multiminicore myopathy 2584 Classic mycosis fungoides 216866 163898 163898 93258 79254 79254 280219 240071 240071 18 3467 98846 2272 319276 398971 404511 319276 319276 319276 97338 97338 3429 101023 1995 2319 2003 2389 2328 2001 888 3253 3253 95465 141242 2014 Classic pantothenate kinaseassociated neurodegeneration Classic paraneoplastic limbic encephalitis Classic paraneoplastic limbic encephalitis, with or without intracellular antigens Classic Pfeiffer syndrome Classic phenylketonuria Classic PKU classic PMD Classic progressive supranuclear palsy Classic PSP Classic RTA Classic xanthinuria Classical Hodgkin lymphoma, lymphocyte-depleted type Clayton Smith-Donnai syndrome Clear cell adenocarcinoma Clear cell adenocarcinoma of ovary Clear cell papillary renal cell carcinoma Clear cell renal carcinoma Clear cell renal cell adenocarcinoma Clear cell renal cell carcinoma Clear cell sarcoma of soft tissue Clear cell sarcoma of the tendons and aponeuroses Cleft - limb-heart malformation syndrome Cleft hard palate Cleft lip - retinopathy Cleft lip/palate - abnormal thumbs microcephaly Cleft lip/palate - deafness - sacral lipoma Cleft lip/palate - ectrodactyly Cleft lip/palate - facial, eye, heart and intestinal anomalies Cleft lip/palate - intestinal malrotation - cardiopathy Cleft lip/palate with mucous cysts of lower lip Cleft lip/palate-ectodermal dysplasia syndrome Cleft lip/palate-syndactyly-pili torti Cleft mitral valve Cleft nose Cleft palate → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 33 ORPHA number 2008 921 2013 2015 2010 2016 99772 99772 1997 1452 1452 3472 1453 284448 228329 228349 228346 228340 228343 228360 228363 228366 228354 1947 228357 228337 314629 314632 352709 93929 314950 221083 268366 189 140944 100978 93274 93267 411493 3253 192 85136 137667 289504 Disease name Cleft palate - cardiac defect - genital anomalies - ectrodactyly Cleft palate - coloboma - deafness Cleft palate - large ears - small head Cleft palate - short stature vertebral anomalies Cleft palate - stapes fixation oligodontia Cleft palate-lateral synechia syndrome Cleft velum Cleft velum palatinum Clefting - ectropion - conical teeth Cleidocranial dysostosis Cleidocranial dysplasia Cleidocranial dysplasia micrognathia - absent thumbs Cleidorhizomelic syndrome CLIPPERS CLN1 disease CLN2 disease CLN3 disease CLN4A disease CLN4B disease CLN5 disease CLN6 disease CLN7 disease CLN8 disease CLN8 disease, Northern epilepsy variant CLN9 disease CLN10 disease CLN11 disease CLN12 disease CLN13 disease Cloacal exstrophy Clonal hypereosinophilic syndrome Clonic hemifacial spasm Closed iniencephaly Clouston syndrome CLOVE syndrome Cloverleaf skull - asphyxiating thoracic dysplasia Cloverleaf skull - micromelic bone dysplasia Cloverleaf skull - multiple congenital anomalies CLP1-related pontocerebellar hypoplasia CLPED1 CLS CLWM CM-AVM CMAMMA ORPHA number 1334 CMC 258 CMD1A 98893 CMD1B 52428 Disease name CMD1C 370959 CMD with cerebellar involvement 370968 CMD with intellectual disability 329178 370980 370959 370968 370980 371007 252202 99763 99763 238459 86830 71 101081 101082 101083 101084 90658 101085 101075 401964 99946 99947 99936 99937 99938 99939 99940 99941 99942 99943 99944 99945 228179 228174 284232 300319 329258 397968 101076 101077 99948 99955 99956 363981 99949 99950 CMD with intellectual disability and severe epilepsy CMD without intellectual disability CMD-CRB CMD-MR CMD-no MR CMDH CMMR-D syndrome CMO I CMO II CMP-sialic acid transporter deficiency CMPD-U CMRD CMT1A CMT1B CMT1C CMT1D CMT1E CMT1F CMT1X CMT2 with giant axons CMT2A1 CMT2A2 CMT2B CMT2C CMT2D CMT2E CMT2F CMT2G CMT2I CMT2J CMT2K CMT2L CMT2M CMT2N CMT2O CMT2P CMT2Q CMT2R CMT2X CMT3X CMT4A CMT4B1 CMT4B2 CMT4B3 CMT4C CMT4D ORPHA number 99951 CMT4E 99952 CMT4F 99953 CMT4G 99954 Disease name CMT4H 139515 CMT4J 391351 CMT4K 101078 CMT4X 99014 CMT5X 90120 CMT6 352675 CMT6X 324611 CMT due to KIF5A mutation 397735 CMT due to MARS mutation 1556 CMTC 100043 CMTDIA 100044 CMTDIB 100045 CMTDIC 100046 CMTDID 93114 CMTDIE 352670 CMTDIF 101075 CMTX1 101076 CMTX2 101077 CMTX3 101078 CMTX4 99014 CMTX5 352675 CMTX6 294 137698 319160 306686 1454 1456 397725 190 313838 79282 79283 79284 369955 53721 352682 352682 1911 90068 228123 228123 3233 191 90321 CMV antenatal infection CMV disease in patients with impaired cell mediated immunity deemed at risk CNM4 CO-induced parkinsonism COACH syndrome Coarctation of the abdominal aorta COASY protein-associated neurodegeneration Coats disease Coats plus syndrome Cobalamin C defect Cobalamin D defect Cobalamin F defect Cobalamin J defect Cobb syndrome Cobblestone lissencephaly without muscular or eye involvement Cobblestone lissencephaly without muscular or ocular involvement Cocaine embryofetopathy Cocaine poisoning Coccidioides infection Coccidioidomycosis Cochleosaccular degeneration cataract Cockayne syndrome Cockayne syndrome type 1 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 34 ORPHA Disease name number 90322 Cockayne syndrome type 2 90324 Cockayne syndrome type 3 1458 CODAS syndrome ORPHA number 240867 Codeine toxicity 192 Coffin-Lowry syndrome 424099 1465 1466 263508 263501 263487 79333 95428 1467 98980 193 2969 79144 79144 31824 56425 56425 157820 324561 2050 84087 36205 247203 2412 3474 168 138 98942 98943 98946 155889 98944 98945 1471 1475 98947 155884 →138 98938 Coffin-Siris syndrome COFS syndrome COG1-CDG COG4-CDG COG5-CDG COG7-CDG COG8-CDG Cogan syndrome Cogan-Reese syndrome Cohen syndrome Cohen-Hayden syndrome COIF COIF syndrome Colchicine poisoning Cold agglutinin disease Cold agglutinin syndrome Cold-induced sweating syndrome Cole disease Cole-Carpenter syndrome Collagen type III glomerulopathy Collagenous colitis Collecting duct carcinoma Collins-Pope syndrome Coloboma - congenital heart disease - ichthyosiform dermatosis intellectual disability - ear anomalies syndrome Coloboma - hair abnormality Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities Coloboma of choroid and retina Coloboma of eye lens Coloboma of eyelid Coloboma of inferior eyelid Coloboma of iris Coloboma of macula Coloboma of macula brachydactyly type B Coloboma of optic nerve with renal disease Coloboma of optic papilla Coloboma of superior eyelid Colobomatous - microphthalmia heart disease - hearing loss Colobomatous microphthalmia Disease name ORPHA number Colobomatous microphthalmia363741 obesity-hypogenitalism-intellectual 1198 16 83595 83595 83595 733 261584 370114 356978 356978 26 79282 79283 79284 369955 369962 35909 99732 308386 308393 disability syndrome Colobomatous microphthalmiarhizomelic dysplasia syndrome Colonic atresia Color blindness, blue monocone monochromatic type Colorado tick encephalitis Colorado tick fever Colorado tick-borne disease Colorectal adenomatous polyposis Colorectal adenomatous polyposis due to monosomy 5q22.2 Combined cervical dystonia Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria Combined defect in adenosylcobalamin and methylcobalamin synthesis Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX Combined deficiency of factor V and factor VIII Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B Disease name Combined deficiency of sulfite 308400 oxidase, xanthine dehydrogenase 221078 169079 169082 169090 217390 217390 317473 317476 397964 317428 157949 317430 314689 911 231154 221139 39041 157949 228423 1979 289504 289504 254920 254925 and aldehyde oxidase type C Combined hyperactive dysfunction syndrome of the cranial nerves Combined immunodeficiency microcephaly - growth retardation sensitivity to ionizing radiation Combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CRAC channel dysfunction Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency Combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to ikaros deficiency Combined immunodeficiency due to MAGT1 deficiency Combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to RAG 1/2 deficiency Combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency T+ B+ due to partial RAG1 deficiency Combined immunodeficiency with facio-oculo-skeletal anomalies Combined immunodeficiency with hypereosinophilia Combined immunodeficiency with skin granulomas Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency Combined malonic and methylmalonic acidemia Combined malonic and methylmalonic aciduria Combined oxidative phosphorylation defect type 2 Combined oxidative phosphorylation defect type 4 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 35 ORPHA number 137908 254930 319504 319509 314637 324535 319514 319519 319524 352563 369913 420728 420733 309111 95494 139406 300564 166286 141276 141061 3384 3384 1329 →288 620 1572 280821 280133 99429 99429 1329 99068 Disease name Combined oxidative phosphorylation defect type 5 Combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 10 Combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 14 Combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 16 Combined oxidative phosphorylation defect type 17 Combined oxidative phosphorylation deficiency type 20 Combined oxidative phosphorylation deficiency type 21 Combined pancreatic lipasecolipase deficiency Combined pituitary hormone deficiencies, genetic forms Combined prosaposin deficiency Combined pulmonary fibrosisemphysema syndrome Comedo nevus of the palm Commissural facial cleft Commissural lip fistula Common aortico-pulmonary trunk Common arterial trunk Common atrioventricular canal Common hereditary elliptocytosis Common mesentery Common variable immunodeficiency Communicating congenital bronchopulmonary-foregut malformation Complement component 3 deficiency Complete androgen insensitivity syndrome Complete androgen resistance syndrome Complete atrioventricular canal Complete atrioventricular canal Fallot tetralogy ORPHA number 99066 99067 99066 99067 99068 1329 98949 289916 633 254688 79293 29 254688 49382 101063 101063 180074 180074 83452 99995 99994 306644 268316 168966 168966 634 228165 3216 3236 383 1871 209932 209932 209932 Disease name Complete atrioventricular canal left heart obstruction Complete atrioventricular canal ventricle hypoplasia Complete atrioventricular canal type A Complete atrioventricular canal type B Complete atrioventricular canal type C Complete atrioventricular septal defect Complete cryptophthalmia Complete deficiency of methylmalonyl-CoA mutase Complete growth hormone insensitivity Complete hydatidiform mole Complete LCAT deficiency Complete mevalonate kinase deficiency Complete molar pregnancy Complete or incomplete color blindness Complete situs inversus Complete situs inversus viscerum Complete unilateral aplasia of the Müllerian ducts Complete unilateral müllerian aplasia Complex regional pain syndrome Complex regional pain syndrome type 1 Complex regional pain syndrome type 2 Complication after organ transplantation Complication in hemodialysis Composite Hodgkin and nonHodgkin lymphoma Composite lymphoma Comèl-Netherton syndrome Concentric demyelination Conductive deafness - malformed external ear Conductive deafness - ptosis skeletal anomalies Conductive deafness with stapes fixation Cone dystrophy Cone dystrophy with supernormal rod electroretinogram Cone dystrophy with supernormal rod ERG Cone dystrophy with supernormal rod response ORPHA number 209932 1872 1873 221142 294979 295095 295093 294981 295099 295097 86815 217399 294977 295091 295089 294975 295087 295085 247775 96269 294990 295114 973 294988 295112 295110 324353 93583 Disease name Cone dystrophy with supernormal scotopic electroretinogram Cone rod dystrophy Cone rod dystrophy - amelogenesis imperfecta Confetti-like macular atrophy Congenital absence of both forearm and hand Congenital absence of both forearm and hand, bilateral Congenital absence of both forearm and hand, unilateral Congenital absence of both lower leg and foot Congenital absence of both lower leg and foot, bilateral Congenital absence of both lower leg and foot, unilateral Congenital absence of lacrimal puncta and salivary glands Congenital absence of pain with hyperhidrosis Congenital absence of thigh and lower leg with foot present Congenital absence of thigh and lower leg with foot present, bilateral Congenital absence of thigh and lower leg with foot present, unilateral Congenital absence of upper arm and forearm with hand present Congenital absence of upper arm and forearm with hand present, bilateral Congenital absence of upper arm and forearm with hand present, unilateral Congenital absence of uterus and vagina Congenital absence of vagina Congenital absence/hypoplasia of fingers excluding thumb Congenital absence/hypoplasia of fingers excluding thumb, bilateral Congenital absence/hypoplasia of fingers excluding thumb, unilateral Congenital absence/hypoplasia of thumb Congenital absence/hypoplasia of thumb, bilateral Congenital absence/hypoplasia of thumb, unilateral Congenital achiasma Congenital ADAMTS-13 deficiency → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 36 ORPHA number Disease name Congenital adrenal hyperplasia due 90791 to 3-beta-hydroxysteroid 90795 90793 95699 95699 95701 33355 79 210122 3319 3319 86816 217399 95507 91489 95449 3093 93322 353334 353334 1195 60041 162526 1216 48 48 48 93177 79301 79303 dehydrogenase deficiency Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome POR deficiency Congenital adrenal hypoplasia of maternal cause Congenital aleukocytosis Congenital alpha2 antiplasmin deficiency Congenital alveolar capillary dysplasia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenic purpura Congenital analbuminemia Congenital analgesia with hyperhidrosis Congenital anomaly of hepatic vein Congenital anterior megalophthalmia Congenital aortic valve insufficiency Congenital aortic valve stenosis Congenital aplasia and dysplasia of the tibia with intact fibula Congenital arteriovenous anastomoses of the retina Congenital arteriovenous communication of the retina Congenital atransferrinemia Congenital atrioventricular block Congenital auditory ossicle malformation without external ear abnormality Congenital benign spinal muscular atrophy with contractures Congenital bilateral absence of vas deferens Congenital bilateral agenesis of vas deferens Congenital bilateral aplasia of vas deferens Congenital bilateral megacalycosis Congenital bile acid synthesis defect type 1 Congenital bile acid synthesis defect type 2 ORPHA number 79302 79095 300337 2292 71278 2040 3161 1369 1376 330054 330054 289499 98983 300313 300313 48431 99803 661 2345 53689 329242 329242 264688 2505 91413 269505 99129 115 178382 Disease name Congenital bile acid synthesis defect type 3 Congenital bile acid synthesis defect type 4 Congenital blindness due to retinal non-attachment Congenital bowing of long bones Congenital brain dysgenesis due to glutamine synthetase deficiency Congenital bronchobiliary fistula Congenital bronchopulmonary sequestration Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy Congenital cataract - ichthyosis Congenital cataract - progressive muscular hypotonia - deafness developmental delay Congenital cataract - progressive muscular hypotonia - hearing loss developmental delay Congenital cataract microcornea with corneal opacity Congenital cataract, Volkmann type Congenital cataract-deafnesssevere developmental delay syndrome Congenital cataract-hearing losssevere developmental delay syndrome Congenital cataracts - facial dysmorphism - neuropathy Congenital central alveolar hypoventilation - Hirschsprung disease Congenital central alveolar hypoventilation syndrome Congenital cervical vertebral fusion Congenital chloride diarrhea Congenital chronic diarrhea with exudative enteropathy Congenital chronic diarrhea with protein-losing enteropathy Congenital chylothorax Congenital circumferential skin folds Congenital Claude-Bernard-Horner syndrome Congenital communicating hydrocephalus Congenital complete agenesis of pericardium Congenital contractural arachnodactyly Congenital convex foot ORPHA Disease name number 178382 Congenital convex pes valgus 53691 Congenital cornea plana 95491 2444 280827 280832 280840 280847 280854 2444 280827 280832 280840 280847 280854 2444 280832 280840 280847 168612 2140 3474 79318 79319 79320 79321 79322 79323 79324 Congenital coronary artery aneurysm Congenital cystic adenomatoid malformation of the lung Congenital cystic adenomatoid malformation of the lung type 0 Congenital cystic adenomatoid malformation of the lung type 1 Congenital cystic adenomatoid malformation of the lung type 2 Congenital cystic adenomatoid malformation of the lung type 3 Congenital cystic adenomatoid malformation of the lung type 4 Congenital cystic adenomatous malformation of the lung Congenital cystic adenomatous malformation of the lung type 0 Congenital cystic adenomatous malformation of the lung type 1 Congenital cystic adenomatous malformation of the lung type 2 Congenital cystic adenomatous malformation of the lung type 3 Congenital cystic adenomatous malformation of the lung type 4 Congenital cystic disease of the lung Congenital cystic disease of the lung type 1 Congenital cystic disease of the lung type 2 Congenital cystic disease of the lung type 3 Congenital deficiency in alphafetoprotein Congenital diaphragmatic hernia Congenital disorder of glycosylation due to PIGL deficiency Congenital disorder of glycosylation type 1a Congenital disorder of glycosylation type 1b Congenital disorder of glycosylation type 1c Congenital disorder of glycosylation type 1d Congenital disorder of glycosylation type 1e Congenital disorder of glycosylation type 1f Congenital disorder of glycosylation type 1g → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 37 ORPHA number 79325 79326 86309 79327 79328 91131 244310 280071 300536 324422 79329 79330 79332 79333 238459 95428 356961 79318 79319 79320 79321 79322 79323 79324 79325 79326 79329 79330 Disease name Congenital disorder of glycosylation type 1h Congenital disorder of glycosylation type 1i Congenital disorder of glycosylation type 1j Congenital disorder of glycosylation type 1k Congenital disorder of glycosylation type 1L Congenital disorder of glycosylation type 1m Congenital disorder of glycosylation type 1n Congenital disorder of glycosylation type 1p Congenital disorder of glycosylation type 1r Congenital disorder of glycosylation type 1s Congenital disorder of glycosylation type 2a Congenital disorder of glycosylation type 2b Congenital disorder of glycosylation type 2d Congenital disorder of glycosylation type 2e Congenital disorder of glycosylation type 2f Congenital disorder of glycosylation type 2h Congenital disorder of glycosylation type 2m Congenital disorder of glycosylation type Ia Congenital disorder of glycosylation type Ib Congenital disorder of glycosylation type Ic Congenital disorder of glycosylation type Id Congenital disorder of glycosylation type Ie Congenital disorder of glycosylation type If Congenital disorder of glycosylation type Ig Congenital disorder of glycosylation type Ih Congenital disorder of glycosylation type Ii Congenital disorder of glycosylation type IIa Congenital disorder of glycosylation type IIb ORPHA number 79332 79333 238459 263508 95428 263487 263501 356961 86309 79327 79328 91131 244310 263494 280071 300536 324422 329178 293825 98869 98873 98870 293825 98869 98873 98870 293825 67044 Disease name Congenital disorder of glycosylation type IId Congenital disorder of glycosylation type IIe Congenital disorder of glycosylation type IIf Congenital disorder of glycosylation type IIg Congenital disorder of glycosylation type IIh Congenital disorder of glycosylation type IIi Congenital disorder of glycosylation type IIj Congenital disorder of glycosylation type IIm Congenital disorder of glycosylation type Ij Congenital disorder of glycosylation type Ik Congenital disorder of glycosylation type IL Congenital disorder of glycosylation type Im Congenital disorder of glycosylation type In Congenital disorder of glycosylation type Io Congenital disorder of glycosylation type Ip Congenital disorder of glycosylation type Ir Congenital disorder of glycosylation type Is Congenital disorder of glycosylation type Iu Congenital dyserythropoietic anemia due to KLF1 mutation Congenital dyserythropoietic anemia type 1 Congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type 3 Congenital dyserythropoietic anemia type 4 Congenital dyserythropoietic anemia type I Congenital dyserythropoietic anemia type II Congenital dyserythropoietic anemia type III Congenital dyserythropoietic anemia type IV Congenital dyserythropoietic anemia with thombocytopenia ORPHA Disease name number 91491 Congenital ectropion uveae 295032 Congenital elbow dislocation 295227 295225 103910 168601 168601 292 70596 157826 231573 90042 369992 79277 91358 215 91 280811 99176 570 325 326 327 328 329 330 331 92050 2020 335 45358 90045 2345 2026 1023 79495 295232 295229 Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital enterocyte heparan sulfate deficiency Congenital enterokinase deficiency Congenital enteropathy due to enteropeptidase deficiency Congenital enterovirus infection Congenital Epstein-Barr virus infection Congenital epulis Congenital erosive and vesicular dermatosis Congenital erythrocytosis due to erythropoietin receptor mutation Congenital erythrodermahypotrichosis-recurrent infectionsmultiple food allergies syndrome Congenital erythropoietic porphyria Congenital esophageal diverticulum Congenital essential nyctalopia Congenital estrogen deficiency Congenital extrapulmonary sequestration Congenital eyelid retraction Congenital facial diplegia Congenital factor II deficiency Congenital factor V deficiency Congenital factor VII deficiency Congenital factor X deficiency Congenital factor XI deficiency Congenital factor XII deficiency Congenital factor XIII deficiency Congenital familial intractable diarrhea with epithelial or epithelium abnormalities Congenital fiber-type disproportion myopathy Congenital fibrinogen deficiency Congenital fibrosis of extraocular muscles Congenital folate malabsorption Congenital fused cervical segments Congenital generalized hypertrichosis terminalis Congenital generalized hypertrichosis, Ambras type Congenital generalized hypertrichosis, Macias-Flores type Congenital genu flexum Congenital genu recurvatum → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 38 ORPHA Disease name number 157826 Congenital gingival cell tumor 98976 Congenital glaucoma 157826 Congenital granular cell tumor 330 60041 139 238691 98975 293603 98975 293603 306530 306530 306530 306530 101068 293 483 91413 2185 2190 478 124 →672 226313 95715 1195 79458 352333 352333 2271 2271 88621 Congenital Hageman factor deficiency Congenital heart block Congenital hemidysplasia with ichthyosiform nevus and limbs defects Congenital hepatic hemangioma Congenital hereditary endothelial dystrophy type 1 Congenital hereditary endothelial dystrophy type 2 Congenital hereditary endothelial dystrophy type I Congenital hereditary endothelial dystrophy type II Congenital hereditary facial palsy with variable deafness Congenital hereditary facial palsy with variable hearing loss Congenital hereditary facial paralysis with variable deafness Congenital hereditary facial paralysis with variable hearing loss Congenital hereditary stromal dystrophy Congenital herpes virus infection Congenital high-molecular-weight kininogen deficiency Congenital Horner syndrome Congenital hydrocephalus Congenital hydronephrosis Congenital hypogonadotropic hypogonadism with anosmia Congenital hypoplastic anemia, Blackfan-Diamond type Congenital hypothalamic hamartoma syndrome Congenital hypothyroidism due to maternal intake of antithyroid drugs Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies Congenital hypotransferrinemia Congenital hypotrichosis - milia Congenital ichthyosis - intellectual disability - spastic quadriplegia Congenital ichthyosis - intellectual disability - spastic tetraplegia Congenital ichthyosis microcephalus - quadriplegia Congenital ichthyosis microcephalus - tetraplegia Congenital ichthyosis type 4 ORPHA Disease name number 631 Congenital IGHD 231662 Congenital IGHD type IA 231671 Congenital IGHD type IB 231679 Congenital IGHD type II 231692 Congenital IGHD type III 217399 64752 217399 391397 388 280802 1229 332 199296 631 231662 231671 231679 231692 631 231662 231671 231679 231692 209893 209893 295034 53690 70472 313 99872 141124 137932 2374 2373 Congenital indifference to pain with hyperhidrosis Congenital insensitivity to pain and thermal analgesia Congenital insensitivity to pain with hyperhidrosis Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction Congenital intestinal aganglionosis Congenital intrapulmonary sequestration Congenital intrauterine infectionlike syndrome Congenital intrinsic factor deficiency Congenital isolated ACTH deficiency Congenital isolated GH deficiency Congenital isolated GH deficiency type IA Congenital isolated GH deficiency type IB Congenital isolated GH deficiency type II Congenital isolated GH deficiency type III Congenital isolated growth hormone deficiency Congenital isolated growth hormone deficiency type IA Congenital isolated growth hormone deficiency type IB Congenital isolated growth hormone deficiency type II Congenital isolated growth hormone deficiency type III Congenital isolated TBG deficiency Congenital isolated thyroxinebinding globulin deficiency Congenital knee dislocation Congenital lactase deficiency Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Congenital lamellar ichthyosis Congenital Langerhans cell histiocytosis Congenital laryngeal cyst Congenital laryngeal palsy Congenital laryngeal web Congenital laryngomalacia ORPHA Disease name number 1954 Congenital lethal erythroderma 210163 93937 90790 140944 238691 1928 1928 768 93323 93321 93322 93320 2430 95430 83620 141214 93109 280671 69063 2665 391376 566 199293 2290 2290 566 99057 98905 1875 258 157973 280671 Congenital lethal myopathy, Compton-North type Congenital limb amputation Congenital lipoid adrenal hyperplasia due to STAR deficency Congenital lipomatous overgrowth - vascular malformation - epidermal nevi Congenital liver hemangioma Congenital lobar emphysema Congenital lobar hyperinflation Congenital long QT syndrome Congenital longitudinal deficiency of the fibula Congenital longitudinal deficiency of the radius Congenital longitudinal deficiency of the tibia Congenital longitudinal deficiency of the ulna Congenital macroglossia Congenital major airway collapse Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Congenital maxillomandibular fusion Congenital megacalycosis Congenital megaconial myopathy Congenital membranous nephropathy due to maternal antineutral endopeptidase alloimmunization Congenital mesoblastic nephroma Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Congenital microcoria Congenital microgastria Congenital microvillous atrophy Congenital microvillus atrophy Congenital miosis Congenital mitral stenosis Congenital multicore myopathy with external ophthalmoplegia Congenital muscular dystrophy infantile cataract - hypogonadism Congenital muscular dystrophy due to laminin alpha2 deficiency Congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 39 ORPHA number Disease name Congenital muscular dystrophy type 1A Congenital muscular dystrophy 98893 type 1B Congenital muscular dystrophy →370953 type 1C Congenital muscular dystrophy →370953 type 1D Congenital muscular dystrophy 370959 with cerebellar involvement Congenital muscular dystrophy 371007 with hyperlaxity Congenital muscular dystrophy 34520 with integrin alpha-7 deficiency Congenital muscular dystrophy 370968 with intellectual disability Congenital muscular dystrophy 329178 with intellectual disability and severe epilepsy Congenital muscular dystrophy 34520 with ITGA7 deficiency Congenital muscular dystrophy 280671 with mitochondrial structural abnormalities Congenital muscular dystrophy 370980 without intellectual disability Congenital muscular dystrophy, 272 Fukuyama type Congenital muscular dystrophy, 75840 Ullrich type 590 Congenital myasthenic syndrome Congenital myasthenic syndromes 353327 with glycosylation defect Congenital myopathy - cleft palate 168572 malignant hyperthermia Congenital myopathy with excess of 98904 thin filaments Congenital myopathy with internal 319160 nuclei and atypical cores Congenital myopathy with 424107 myasthenic-like onset 199329 Congenital myopathy, Paradas type Congenital myosclerosis, Löwenthal 289380 type Congenital narrowing of cervical 831 spinal canal Congenital nasal pyriform aperture 162521 stenosis with holoprosencephaly 141083 Congenital nasolacrimal mucocele 168486 Congenital NCL Congenital nephrotic syndrome, 839 Finnish type Congenital nephrotic syndrome306504 interstitial lung diseaseepidermolysis bullosa syndrome 258 ORPHA number 168486 369852 369852 79394 269510 269505 1216 208513 269510 79144 79144 157713 99012 2772 465 2805 313906 139414 264675 99130 99124 295036 295237 295234 99072 332 626 465 2907 90042 124 749 83461 Disease name Congenital neuronal ceroid lipofuscinosis Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome Congenital neutropeniamyelofibrosis-nephromegaly syndrome Congenital non-bullous ichthyosiform erythroderma Congenital non-communicating hydrocephalus Congenital non-obstructive hydrocephalus Congenital nonprogressive spinal muscular atrophy Congenital nonprogressive spinocerebellar ataxia Congenital obstructive hydrocephalus Congenital onychodysplasia Congenital onychodysplasia of the index fingers Congenital or early infantile CACH syndrome Congenital or early infantile optic atrophy Congenital osteogenesis imperfecta - microcephaly - cataracts Congenital PAI-1 deficiency Congenital pancreatic agenesis Congenital pancreatic cyst Congenital panfollicular nevus Congenital PAP Congenital partial agenesis of pericardium Congenital partial pulmonary venous return anomaly Congenital patella dislocation Congenital patella dislocation, bilateral Congenital patella dislocation, unilateral Congenital patent ductus arteriosus aneurysm Congenital pernicious anemia Congenital pigmented nevus Congenital plasminogen activator inhibitor type 1 deficiency Congenital poikiloderma with bullae, Weary type Congenital polycythemia due to erythropoietin receptor mutation Congenital PRCA Congenital prekallikrein deficiency Congenital primary aphakia ORPHA Disease name number 617 Congenital primary megalo-ureter 617 Congenital primary megaureter 238654 238646 238650 327 66630 295020 295022 157808 295024 295018 295026 91411 2444 280827 280832 280840 280847 280854 264675 2414 3161 3189 185 124 295032 97598 97598 281190 353334 353334 Congenital primary megaureter, nonrefluxing and unobstructed form Congenital primary megaureter, obstructed form Congenital primary megaureter, refluxing form Congenital proconvertin deficiency Congenital pseudoarthrosis of clavicle Congenital pseudoarthrosis of the femur Congenital pseudoarthrosis of the fibula Congenital pseudoarthrosis of the limbs Congenital pseudoarthrosis of the radius Congenital pseudoarthrosis of the tibia Congenital pseudoarthrosis of the ulna Congenital ptosis Congenital pulmonary airway malformation Congenital pulmonary airway malformation type 0 Congenital pulmonary airway malformation type 1 Congenital pulmonary airway malformation type 2 Congenital pulmonary airway malformation type 3 Congenital pulmonary airway malformation type 4 Congenital pulmonary alveolar proteinosis Congenital pulmonary lymphangiectasia Congenital pulmonary sequestration Congenital pulmonary valve stenosis Congenital pulmonary venolobar syndrome Congenital pure red cell aplasia Congenital radial head dislocation Congenital renal artery stenosis Congenital renovascular hypoplasia Congenital reticular ichthyosiform erythroderma Congenital retinal arteriovenous anastomoses Congenital retinal arteriovenous communication → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 40 ORPHA Disease name number 300337 Congenital retinal detachment 190 Congenital retinal telangiectasia 178382 Congenital rocker-bottom foot 290 974 974 2301 1987 295030 93400 260305 369861 263435 103908 94068 215 75382 99122 99122 99122 3197 101068 328 141121 35122 306446 306474 306436 306462 306486 35122 Congenital rubella syndrome Congenital scalp defects with distal limb anomalies Congenital scalp defects with distal limb reduction anomalies Congenital short bowel syndrome Congenital short femur Congenital shoulder dislocation Congenital sialidosis type 2 Congenital sideroblastic anemia Congenital sideroblastic anemia-Bcell immunodeficiency-periodic fever-developmental delay syndrome Congenital smooth muscle hamartoma Congenital sodium diarrhea Congenital spondyloepiphyseal dysplasia Congenital stationary night blindness Congenital stationary night blindness, Oguchi type Congenital stenosis of the inferior caval vein Congenital stenosis of the inferior vena cava Congenital stenosis of the IVC Congenital stiff man syndrome Congenital stromal corneal dystrophy Congenital Stuart factor deficiency Congenital subglottic stenosis Congenital sucrase-isomaltase deficiency Congenital sucrase-isomaltase deficiency with minimal starch tolerance Congenital sucrase-isomaltase deficiency with starch and lactose intolerance Congenital sucrase-isomaltase deficiency with starch intolerance Congenital sucrase-isomaltase deficiency without starch intolerance Congenital sucrase-isomaltase deficiency without sucrose intolerance Congenital sucrase-isomaltose malabsorption ORPHA number Disease name Congenital sucrase-isomaltose 306446 malabsorption with minimal starch 306474 306436 306462 35122 306446 306474 306436 306462 306486 3465 99059 98948 141214 99856 210576 93583 99125 858 141127 3347 95430 95459 231013 210576 88629 98686 93583 141099 99060 95457 1166 2258 1864 tolerance Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance Congenital sucrase-isomaltose malabsorption with starch intolerance Congenital sucrase-isomaltose malabsorption without starch intolerance Congenital sucrose intolerance Congenital sucrose intolerance with minimal starch tolerance Congenital sucrose intolerance with starch and lactose intolerance Congenital sucrose intolerance with starch intolerance Congenital sucrose intolerance without starch intolerance Congenital sucrose-isomaltose malabsorption without sucrose intolerance Congenital suprabulbar paresis Congenital supravalvular mitral ring Congenital symblepharon Congenital syngnathia Congenital syringomyelia Congenital temporomandibular joint ankylosis Congenital thrombotic thrombocytopenic purpura Congenital total pulmonary venous return anomaly Congenital toxoplasmosis Congenital tracheal stenosis Congenital tracheobronchomegaly Congenital tracheomalacia Congenital tricuspid stenosis Congenital trigeminal anesthesia Congenital trismus Congenital tritanopia Congenital trochlear nerve palsy Congenital TTP Congenital tubular nose Congenital unguarded mitral orifice Congenital unguarded tricuspid orifice Congenital unilateral hypoplasia of depressor anguli oris Congenital unilateral pulmonary hypoplasia Congenital valvular dysplasia ORPHA number 2291 178382 295203 295201 137932 216694 216694 2391 860 216729 99042 860 216729 99042 99827 99827 97231 369929 280210 300284 300284 →2909 420794 140969 567 35173 319651 252202 295000 1303 369942 Disease name Congenital velopharyngeal incompetence Congenital vertical talus Congenital vertical talus, bilateral Congenital vertical talus, unilateral Congenital vocal cord paralysis Congenitally corrected transposition of the great arteries Congenitally corrected transposition of the great vessels Congenitally short costocoracoid ligament Congenitally uncorrected transposition of the great arteries Congenitally uncorrected transposition of the great arteries with cardiac malformation Congenitally uncorrected transposition of the great arteries with coarctation Congenitally uncorrected transposition of the great vessels Congenitally uncorrected transposition of the great vessels with cardiac malformation Congenitally uncorrected transposition of the great vessels with coarctation Congo fever Congo hemorrhagic fever Conjunctivitis lignosa Conn adenoma with seizures and neurological abnormalities Connatal PMD Connective tissue disorder due to LH3 deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency Connective tissue dysplasia, Spellacy type Cono-spondylar dysplasia Conorenal syndrome Conotruncal anomaly face syndrome Conradi-Hünermann-Happle syndrome Constitutional megaloblastic anemia with severe neurologic disease Constitutional mismatch repair deficiency syndrome Constriction rings syndrome Constrictive bronchiolitis Contiguous ABCD1 DXS1357E deletion syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 41 ORPHA number 84142 725 725 1484 314002 1487 231214 1488 397725 2062 98986 99098 99098 99099 99099 98990 180118 366 366 1051 1490 1661 98962 98969 98961 98960 1490 352662 3177 199 96095 3194 2041 2041 2041 94062 99085 Disease name Continuous muscle fiber activity syndrome Continuous spikes and waves during sleep Continuous spikes and waves during slow-wave sleep Contractures - ectodermal dysplasia - cleft lip/palate Contractures-webbed neckmicrognathia-hypoplastic nipples syndrome Cooks syndrome Cooley anemia Cooper-Jabs syndrome CoPAN Copenhagen syndrome Coppock-like cataract Cor triatriatum dexter Cor triatriatum dextrum Cor triatriatum sinister Cor triatriatum sinistrum Coralliform cataract Cordiform uterus Cori disease Cori-Forbes disease Corneal anesthesia - deafness intellectual disability Corneal dystrophy - perceptive deafness Corneal dystrophy epithelial - short stature Corneal dystrophy Groenouw type I Corneal dystrophy Groenouw type II Corneal dystrophy of Bowman layer type I Corneal dystrophy of Bowman layer type II Corneal dystrophy with progressive deafness Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis Corneal-cerebellar syndrome Cornelia de Lange syndrome Cornelia de Lange-like syndrome Corneo-dermato-osseous syndrome Coronaro-cardiac fistula Coronary arterial fistulas Coronary arterial malformations Coronary artery disease hyperlipidemia - hypertension diabetes - osteoporosis Coronary artery intramyocardial course ORPHA Disease name number 99118 Coronary sinus atresia 99117 Coronary sinus stenosis 3338 1492 1496 1553 50 →3157 275543 2318 1389 300570 163681 65683 3152 278 199247 54251 99763 96253 189427 423668 423668 141163 67047 67047 3071 1507 1914 93333 1507 99932 101078 201 201 391658 Corpus callosum agenesis blepharophimosis - Robin sequence Corpus callosum agenesis - double urinary collecting system Corpus callosum agenesis neuronopathy Corpus callosum agenesis polysyndactyly Corpus callosum agenesis of with chorioretinal abnormality Corpus callosum dysgenesis hypopituitarism Corpus callosum hypoplasiaretardation-adducted thumbsspasticity-hydrocephalus syndrome CORS Cortical blindness - intellectual disability - polydactyly Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Cortical dysplasia - focal epilepsy syndrome Cortical dysplasia, Taylor type Cortical hyperostosis - syndactyly Corticobasal degeneration Corticosteroid-binding globulin deficiency Corticosteroid-sensitive aseptic abscess syndrome Corticosterone methyloxidase deficiency type I Corticotroph pituitary adenoma Corticotropin-independent macronodular adrenal hyperplasia Cortisol-producing adrenal carcinoma Cortisol-producing adrenal tumor Cosack syndrome Costeff optic atrophy syndrome Costeff syndrome Costello syndrome Costovertebral segmentation defect - mesomelia Coumarin embryopathy Cousin syndrome COVESDEM syndrome Cow's milk hypersensitivity Cowchock syndrome Cowden disease Cowden syndrome Cowpox infection ORPHA number 70472 781 1508 1509 254920 254925 137908 254930 319504 319509 314637 324535 319514 319519 319524 352563 369913 2444 280827 280832 280840 280847 280854 475 300564 91359 2016 759 147 156 157 228302 228305 228308 228302 228308 228305 157 228302 228305 228308 228302 228308 228305 3286 35173 2081 202 1512 97339 97339 268820 Disease name COX deficiency, French-Canadian type Coxiellosis Coxoauricular syndrome Coxopodopatellar syndrome COXPD2 COXPD4 COXPD5 COXPD7 COXPD8 COXPD9 COXPD10 COXPD11 COXPD13 COXPD14 COXPD15 COXPD16 COXPD17 CPAM CPAM type 0 CPAM type 1 CPAM type 2 CPAM type 3 CPAM type 4 CPD IV CPFE CPI CPLS syndrome CPP CPS1 deficiency CPT1A deficiency CPT2 CPT2, adult-onset form CPT2, hepatocardiomuscular form CPT2, lethal systemic form CPT2, myopathic form CPT2, neonatal form CPT2, severe infantile form CPTII CPTII, adult-onset form CPTII, hepatocardiomuscular form CPTII, lethal systemic form CPTII, myopathic form CPTII, neonatal form CPTII, severe infantile form CPVT CPXD Cramer-Niederdellmann syndrome Crandall syndrome Crane-Heise syndrome Cranial dural arteriovenous fistula Cranial dural arteriovenous malformations Cranial meningocele → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 42 ORPHA Disease name number 98919 Cranial variant of GBS 98919 420485 2115 1525 2053 2053 7 1513 1514 1515 2099 85168 1777 →1394 1798 2095 314555 1516 1529 293843 363705 1520 1521 228390 1519 1520 50814 85184 1522 1524 54595 63260 157832 1532 Cranial variant of Guillain-Barré syndrome Cranio-cervical dystonia with laryngeal and upper-limb involvement Cranio-facio-digito-genital syndrome Cranio-osteoarthropathy Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy Craniocerebellocardiac dysplasia Craniodiaphyseal dysplasia Craniodigital syndrome intellectual disability Cranioectodermal dysplasia Craniofacial and osseous defects intellectual disability Craniofacial conodysplasia Craniofacial dysmorphism coloboma - corpus callosum agenesis Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome Craniofacial dysostosis - diaphyseal hyperplasia Craniofacial dysostosis - genital, dental, cardiac anomalies Craniofacial dysplasia-osteopenia syndrome Craniofacial dyssynostosis Craniofacial-deafness-hand syndrome Craniofacial-ulnar-renal syndrome Craniofaciofrontodigital syndrome Craniofrontonasal dysplasia Craniofrontonasal dysplasia Poland anomaly Craniofrontonasal dysplasia with alopecia and hypogonadism Craniofrontonasal dysplasia, Teebi type Craniofrontonasal syndrome Craniolenticulosutural dysplasia Craniometadiaphyseal dysplasia, wormian bone type Craniometaphyseal dysplasia Craniomicromelic syndrome Craniopharyngioma Craniorachischisis Craniorhiny Craniosynostosis - alopecia - brain defect ORPHA number 85199 1530 2872 1538 1535 1533 171839 52054 1540 284149 1541 2145 1527 1541 1528 2095 75373 275543 184 71 52503 99854 504 280569 90290 204 281 281190 205 79234 79235 99827 99827 1545 1461 1461 891 313838 324964 1380 2930 2719 Disease name Craniosynostosis - anal anomalies porokeratosis Craniosynostosis - cataract Craniosynostosis - congenital heart disease - intellectual disability Craniosynostosis - Dandy-Walker malformation - hydrocephalus Craniosynostosis - dysmorphism brachydactyly Craniosynostosis - fibular aplasia Craniosynostosis - hydrocephalus Arnold-Chiari malformation type I radioulnar synostosis Craniosynostosis - intracranial calcifications Craniosynostosis - midfacial hypoplasia - foot abnormalities Craniosynostosis and dental anomalies Craniosynostosis, Boston type Craniosynostosis, Herrmann-Opitz type Craniosynostosis, Philadelphia type Craniosynostosis, Warman type Craniotelencephalic dysplasia Cranofacial dysostosishypertrichosis-hypoplasia of labia majora CRAPB CRASH syndrome CRBM CRD Creatine transporter deficiency Cree leukoencephalopathy Creeping myiasis Crescentic glomerulonephritis CREST syndrome Creutzfeldt-Jakob disease Cri du chat syndrome CRIE Crigler-Najjar syndrome Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 2 Crimean hemorrhagic fever Crimean-Congo hemorrhagic fever Crisponi syndrome Criss-cross atrioventricular relationships Criss-cross heart Criswick-Schepens syndrome CRMCC CRMO Crome syndrome Cronkhite-Canada syndrome Cross syndrome ORPHA Disease name number 2935 Crossed polydactyly 2935 Crossed polysyndactyly 207 Crouzon craniofacial dysostosis 207 93262 93262 2905 3421 411527 98910 91139 91138 1546 2032 163708 1302 1547 1547 2052 1548 1549 357329 98967 101068 35122 306446 306474 306436 306462 306486 1465 329217 725 725 70591 247525 247585 909 158 2245 413693 3207 98960 1401 Crouzon disease Crouzon syndrome - acanthosis nigricans Crouzon-dermoskeletal syndrome Crow-Fukase syndrome CRV CRVO CRYAB-related myofobrillar myopathy Cryoglobulinemia type 1 Cryoglobulinemic vasculitis Cryptococcosis Cryptogenic fibrosing alveolitis Cryptogenic late-onset epileptic spasms Cryptogenic organizing pneumonia Cryptomicrotia - brachydactyly excess fingertip arch Cryptomicrotia-brachydactyly syndrome Cryptophthalmos-syndactyly syndrome Cryptorchidism - arachnodactyly intellectual disability Cryptosporidiosis Cryptosporidiosis - chronic cholangitis - liver disease Crystalline stromal dystrophy CSCD CSID CSID with minimal starch tolerance CSID with starch and lactose intolerance CSID with starch intolerance CSID without starch intolerance CSID without sucrose intolerance CSS CSVT CSWS CSWSS syndrome CTEPH CTLN1 CTLN2 CTX CUD Culler-Jones syndrome Curariform drugs toxicity Curatolo-Cilio-Pessagno syndrome Curly fiber corneal dystrophy Curly hair - ankyloblepharon - nail dysplasia syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 43 ORPHA number Disease name Curly hair-acral keratoderma-caries syndrome 1525 Currarino disease Currarino idiopathic 1525 osteoarthropathy 1552 Currarino syndrome 1552 Currarino triad Current pressure-sensitive 640 neuropathy 952 Curry-Hall syndrome 1553 Curry-Jones syndrome 96253 Cushing disease Cushing syndrome due to ectopic 99889 ACTH secretion Cutaneomeningospinal 53721 angiomatosis Cutaneous and mucosal venous 2451 malformation Cutaneous collagenous 280779 vasculopathy Cutaneous hemangioma with 329324 muscle or bone atrophy Cutaneous hypersensitivity 889 vasculitis 178475 Cutaneous infectious botulism 423717 Cutaneous larva migrans 889 Cutaneous leukocytoclastic angiitis 79455 Cutaneous local mastocytoma Cutaneous lymphangioma 79490 circumscriptum 79455 Cutaneous mastocytoma 90395 Cutaneous mucinosis of infancy Cutaneous neuroendocrine 79140 carcinoma Cutaneous photosensitivity - lethal 2881 colitis 889 Cutaneous small vessel vasculitis 178475 Cutaneous toxin-mediated botulism Cutis gyrata - acanthosis nigricans 1555 craniosynostosis Cutis laxa - corneal clouding 2962 intellectual disability 228285 Cutis laxa acquisita Cutis laxa with severe pulmonary, 221145 gastrointestinal and urinary anomalies 171719 Cutis laxa-Marfanoid syndrome Cutis marmorata telangiectatica 1556 congenita Cutis verticis gyrata - intellectual →357225 disability Cutis verticis gyrata - retinitis 217315 pigmentosa - neurosensory deafness 307766 ORPHA number Disease name ORPHA number Cutis verticis gyrata - retinitis 217315 pigmentosa - neurosensory hearing loss Cutis verticis gyrata - retinitis →357225 pigmentosa - sensorineural deafness Cutis verticis gyrata - retinitis 217315 pigmentosa - sensorineural hearing loss Cutis verticis gyrata - thyroid →357225 aplasia - intellectual disability 3327 Cutler-Bass-Romshe syndrome 1572 CVID 306692 Cyanide-induced parkinsonism 2686 Cyclic neutropenia Cyclosporine-induced 228379 folliculodystrofy 210 Cyclosporosis 171886 Cylindrical spirals myopathy 90795 CYP11B1 deficiency Cyprus facial-neuromusculoskeletal 2674 syndrome 212 Cystathionase deficiency Cystathione gamma - lyase 212 deficiency Cystathionine beta-synthase 394 deficiency 212 Cystathioninuria 400 Cystic echinococcosis 586 Cystic fibrosis Cystic fibrosis - gastritis 2575 megaloblastic anemia Cystic hamartoma of lung and 2111 kidney 79486 Cystic hygroma Cystic leukoencephalopathy 85136 without megalencephaly 229 Cystic medial necrosis of aorta 1560 Cysticercosis 213 Cystinosis 214 Cystinuria 214 Cystinuria - lysinuria 93612 Cystinuria type A 93613 Cystinuria type B 75381 Cystoid macular dystrophy 180261 Cystosarcoma phyllode 180261 Cystosarcoma phylloide Cytochrome C oxidase deficiency, 70472 French-Canadian type Cytochrome oxidase deficiency, 70472 Saguenay-Lac-Saint-Jean type Cytomegalic congenital adrenal 95702 hypoplasia Cytomegalovirus antenatal 294 infection Disease name Cytomegalovirus disease in patients 137698 with impaired cell mediated 94087 137678 2736 2917 2437 2953 2953 90038 356978 356978 356978 79315 79315 79315 93599 941 941 941 2134 93581 93578 93575 357008 93579 93580 93576 217023 1146 1146 329457 1495 251515 1562 141083 2186 1563 1563 2181 275523 1183 1183 1564 1566 2091 34587 immunity deemed at risk Cytophagic histiocytic panniculitis Czech dysplasia, metatarsal type Czeizel syndrome Czeizel-Brooser syndrome Czeizel-Losonci syndrome D4ST1-deficient EDS D4ST1-deficient Ehlers-Danlos syndrome D+HUS D,L-2-HGA D,L-2-hydroxyglutaric acidemia D,L-2-hydroxyglutaric aciduria D-2-HGA D-2-hydroxyglutaric acidemia D-2-hydroxyglutaric aciduria D-glycerate dehydrogenase deficiency D-glycerate kinase deficiency D-glyceric acidemia D-glyceric aciduria D-HUS D-HUS with anti-factor H antibodies D-HUS with B factor anomaly D-HUS with C3 anomaly D-HUS with DGKE deficiency D-HUS with H factor anomaly D-HUS with I factor anomaly D-HUS with MCP/CD46 anomaly D-HUS with thrombomodulin anomaly DA1 DA1A DA5D Da Silva syndrome DA10 Dacryocystitis - osteopoikilosis Dacryocystocele Daentl-Townsend-Siegel syndrome Dahlberg syndrome Dahlberg-Borer-Newcomer syndrome Daish-Hardman-Lamont syndrome DALD Dancing eye syndrome Dancing eye-dancing feet syndrome Dandy-Walker malformation - facial hemangioma Dandy-Walker malformation postaxial polydactyly Daneman-Davy-Mancer syndrome Danon disease → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 44 ORPHA Disease name number 99645 Dappled diaphyseal dysplasia 218 Darier disease 316 Darier-Gottron disease 218 390 293978 75565 2806 2143 1775 79456 66634 75381 99789 99791 79407 231568 231568 216989 231568 99970 79499 52368 300536 2962 1130 1598 →782 1831 56304 393 3157 244275 →910 1570 33355 71277 3214 3217 2663 52368 3232 3220 Darier-White disease Darling disease DAVID syndrome Davies disease Dawson's encephalitis DBS/FOAR syndrome DC DCM DCMA syndrome DCMD DD-I DD-II DDEB, Cockayne-Touraine type DDEB, generalized DDEB, Pasini and CockayneTouraine types DDEB, Pasini type DDEB-gen DDLS DDOD syndrome DDON syndrome DDOST-CDG De Barsy syndrome De Die-Smulders-Vles-Fryns syndrome De Grouchy syndrome De Hauwere syndrome De Hauwere-Chitty syndrome De la Chapelle dysplasia De la Chapelle syndrome De Morsier syndrome De novo thrombotic microangiopathy after kidney transplantation De Sanctis-Cacchione syndrome De Smet-Fabry-Fryns syndrome De Vaal disease De Vivo disease Deaf blind hypopigmentation syndrome, Yemenite type Deafness - small bowel diverticulosis - neuropathy Deafness - cataracts - skeletal anomalies Deafness - dystonia - optic neuronopathy syndrome Deafness - ear malformation - facial palsy Deafness - enamel hypoplasia - nail defects ORPHA number 254898 3218 3224 90646 85321 3226 2408 3230 →52368 123 3219 3219 3237 3221 3239 90024 3241 94064 3231 79500 79500 1981 158673 79411 89843 158673 79411 158676 89843 79410 99970 397587 31150 75496 Disease name Deafness - encephaloneuropathy obesity - valvulopathy Deafness - epiphyseal dysplasia short stature Deafness - genital anomalies metacarpal and metatarsal synostosis Deafness - hypogonadism Deafness - intellectual disability, Martin-Probst type Deafness - lymphedema - leukemia Deafness - nephritis - ano-rectal malformation Deafness - oligodontia Deafness - opticoacoustic nerve atrophy - dementia Deafness - pili torti - hypogonadism Deafness - skeletal dysplasia coarse face with full lips Deafness - skeletal dysplasia - lip granuloma Deafness - symphalangism syndrome, Hermann type Deafness - thyroid hormone resistance Deafness - vitiligo - achalasia Deafness with labyrinthine aplasia, microtia, and microdontia Deafness-craniofacial syndrome Deafness-infertility syndrome Deafness-onychodystrophy syndrome Deafness-onychodystrophyosteodystrophy-intellectual disability syndrome Deafness-onychoosteodystrophyintellectual disability syndrome Deal-Barrat-Dillon syndrome DEB, acral DEB, bullous dermolysis of the newborn DEB, pruriginosa DEB-ac DEB-BDN DEB-na DEB-Pr DEB-Pt Dedifferentiated liposarcoma Deep dermatophytosis Defective adenosine triphosphatebinding cassette transporter A1 Defective biosynthesis of proteodermatan sulfate ORPHA number Disease name Deficiency in anterior pituitary 293978 function-variable immunodeficiency 169150 404546 404546 158 679 315 1578 3202 64748 2318 401986 1606 250989 250999 238769 293948 363680 261349 163693 369881 228402 1617 251014 251019 251019 251028 1001 1621 356947 397695 65286 238750 228384 314655 251046 171829 251056 251061 251066 251071 284160 2496 324313 352665 401923 284169 276413 syndrome Deficiency of complement of terminal pathway Deficiency of IL-36R antagonist Deficiency of IL-36Ra Deficiency of plasma-membrane carnitine transporter Degos disease Degos genodermatosis "en cocardes" Dehydratase deficiency Dehydrated hereditary stomatocytosis Dejerine-Sottas syndrome Dekaban-Arima syndrome Del(1)(p31p32) Del(1)(p36) Del(1)(q21) Del(1)(q41q42) Del(1)(q44) Del(1)p(21.3) Del(2)(p13.2) Del(2)(p15p16.1) Del(2)(p21) Del(2)(p21) without cystinuria Del(2)(q23.1) Del(2)(q24) Del(2)(q31.1) Del(2)(q32) Del(2)(q32q33) Del(2)(q33.1) Del(2)(q37) Del(3)(q13) Del(3)(q26q27) Del(3)(q27.3) Del(3)(q29) Del(4)(q21) Del(5)(q14.3) Del(5)(q31.3) Del(6)(p22) Del(6)(q16) Del(6)(q25) Del(7)(q31) Del(8)(p11.2) Del(8)(p23.1) Del(8)(q21.11) Del(8)q(13) Del(9)(p13) Del(9)(q21) Del(9)(q31.1q31.3) Del(10)(p11.21p12.31) Del(10)(q22.3q23.3) → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 45 ORPHA Disease name number 2308 Del(11)(q23.3) 2308 Del(11)(qter) 313884 Del(12)(p12.1) ORPHA Disease name number 1600 Deletion 18q 1647 Delleman syndrome 1647 Delleman-Oorthuys syndrome 280325 Del(12)(p13.33) 94063 Del(12)(q14) 79101 289513 Del(12)(q15)(q21.1) 412035 Del(13)(q12.3) 35664 1587 96168 261120 261144 264200 401935 261183 199318 261190 94065 261211 261236 352629 261250 97685 261265 363958 261279 254346 357001 217346 261295 313781 261311 261323 268261 261476 1643 3034 3038 1606 1606 1001 1001 281 904 284160 502 284169 276413 893 94063 289513 1587 1590 Del(13)(q14) Del(13)(q34) Del(14)(q11.2) Del(14)(q12) Del(14)(q22q23) Del(14)(q24.1q24.3) Del(15)(q11.2) Del(15)(q13.3) Del(15)(q14) Del(15)(q24) Del(16)(p11.2p12.2) Del(16)(p13.11) Del(16)(q24.1) Del(16)(q24.3) Del(17)(q11) Del(17)(q12) Del(17)(q21.31) Del(17)(q23.1q23.2) Del(19)(p13.12) Del(19)(p13.13) Del(19)(q13.11) Del(20)(p12.3) Del(20)(p13) Del(20)(q13.33) Del(21)(q22.11q22.12) Del(21)(q22.13q22.2) Del(X)(p21) Del(X)(p23) Delayed membranous cranial ossification Delayed speech - facial asymmetry strabismus - ear lobe creases Deletion 1p36 Deletion 1pter Deletion 2q37 Deletion 2q37-qter Deletion 5p Deletion 7q11.23 Deletion 8q21.11 Deletion 8q24.1 Deletion 10p11.21p12.31 Deletion 10q22.3q23.3 Deletion 11p13 Deletion 12q14 Deletion 12q15q21.1 Deletion 13q14 Deletion 13q32 231237 219 168782 97353 283 283 314451 79134 86903 99828 99828 2109 93571 1652 93622 93623 1652 2095 1077 101 101 99792 314721 99789 99791 71267 166260 166265 166260 166265 77295 228423 220 3177 3270 Delta1-pyrroline-5-carboxylate dehydrogenase deficiency Delta-1-pyrroline 5-carboxylate synthetase deficiency Delta-beta-thalassemia Delta-sarcoglycanopathy Dementia Infantilis Dementia pugilistica Demodicidosis Demodicosis Demons-Meigs syndrome DEND syndrome Dendritic cell sarcoma not otherwise specified Dengue fever Dengue virus infection Dennis-Fairhurst-Moore syndrome Dense deposit disease Dent disease Dent disease type 1 Dent disease type 2 Dent syndrome Dental and eye anomalies-patent ductus arteriosus-normal intelligence Dental ankylosis Dentatorubral pallidoluysian atrophy Dentatorubropallidoluysian atrophy Dentin dysplasia - sclerotic bones Dentin dysplasia type 1 with microdontia and shape anomalies Dentin dysplasia type I Dentin dysplasia type II Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability Dentinogenesis imperfecta type 2 Dentinogenesis imperfecta type 3 Dentinogenesis imperfecta, Shields type 2 Dentinogenesis imperfecta, Shields type 3 Dentoleukoencephalopathy Dentritic cell, monocyte, B and NK lymphoid deficiency Denys-Drash syndrome Der Kaloustian-Jarudi-Khoury syndrome Der Kaloustian-McIntosh-Silver syndrome ORPHA Disease name number 369950 Der(8)t(8;12) 96170 Der(22)t(11;22) syndrome 36397 Dercum's disease 297 1656 1266 31112 1659 221 1657 86920 36426 1660 79149 141051 141046 99688 1916 1916 1425 1425 163703 228123 228123 98909 84132 98909 873 873 251940 83469 251863 35107 98852 158014 163703 313892 163988 2101 Dermacentor-borne necrosis erythema - lymphadenopathy Dermatitis herpetiformis Dermato-cardio-skeletal syndrome, Borrone type Dermatofibrosarcoma protuberans Dermatoleukodystrophy Dermatomyositis Dermatoosteolysis, Kirghizian type Dermatopathia pigmentosa reticularis Dermatostomatitis, Stevens Johnson type Dermo-odonto dysplasia Dermochondrocorneal dystrophy Dermoid cyst of the face Dermoid cyst of the neck Dermotrichic syndrome DES embryofetopathy DES syndrome Desbuquois dysplasia Desbuquois syndrome DESC syndrome Desert fever Desert rheumatism Desmin-related myofibrillar myopathy Desmin-related myopathy with Mallory body-like inclusions Desminopathy Desmoid tumor Desmoid type fibromatosis Desmoplastic infantile astrocytoma/ganglioglioma Desmoplastic small round cell tumor Desmoplastic/nodular medulloblastoma Desmosterolosis Desquamative interstitial pneumonia Destombes-Rosaï-Dorfman disease Devastating epileptic encephalopathy in school-aged children Developmental and speech delay due to SOX5 deficiency Developmental delay - deafness, Hildebrand type Developmental delay - hypotonia extremities hypertrophy → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 46 ORPHA number Disease name Developmental delay due to 279157 methylbutyryl-CoA dehydrogenase 289307 289307 289307 329195 329195 79134 99989 363444 79107 209908 71211 1011 1014 403 1666 98861 99828 383 31112 166260 373 319651 139518 139525 139547 139536 100998 98920 139589 357043 139552 75376 166260 251940 deficiency Developmental delay due to ALDH6A1 deficiency Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Developmental delay due to MMSDH deficiency Developmental delay with ASD and gait instability Developmental delay with autism spectrum disorder and gait instability Developmental delay-epilepsyneonatal diabetes syndrome Developmental delay-epilepsyneonatal diabetes syndrome, intermediate form Developmental delaymicrocephaly-facial dysmorphism syndrome, Hutterite type Developmental malformations deafness - dystonia Developmental verbal dyspraxia Devic disease Devriendt-Legius-Fryns syndrome Devriendt-Vandenberghe-Fryns syndrome Dexamethasone sensitive hypertension Dextrocardia Dextrocardia - bronchiectasis sinusitis DF DFNX2 DFSP DGI-2 DGSX DHFR deficiency dHMN1 dHMN2 dHMN3 and dHMN4 dHMN5 dHMN5B dHMN6 dHMN7 dHMN with upper motor neuron signs dHMNJ DHRD DI-2 DIA/DIG ORPHA number 3464 3463 1926 85446 85446 275523 66637 255182 2140 2141 2059 2143 2143 98920 404521 1802 85182 85182 103909 97282 1671 628 628 276603 276598 2195 284343 180086 3463 370046 1672 319192 1916 1916 146 90060 324 Disease name Diabetes - hypogonadism deafness - intellectual disability Diabetes insipidus - diabetes mellitus - optic atrophy - deafness Diabetic embryopathy Dialysis-related amyloidosis Dialysis-related arthropathy Dianzani autoimmune lymphoproliferative disease Diaphanospondylodysostosis Diaphorase deficiency Diaphragmatic agenesia Diaphragmatic defect - limb deficiency - skull defect Diaphragmatic hernia - abnormal face - distal limb anomalies Diaphragmatic hernia-exomphaloshypertelorism syndrome Diaphragmatic herniahypertelorism-myopia-deafness syndrome Diaphragmatic spinal muscular atrophy Diaphragmatic spinal muscular atrophy type 2 Diaphyseal dysplasia - anemia Diaphyseal medullary stenosis bone malignancy Diaphyseal medullary stenosis malignant fibrous histiocytoma Diarrhea-vomiting due to trehalase deficiency Diarrheogenic islet cell tumor Diastematomyelia Diastrophic dwarfism Diastrophic dysplasia Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Dicarboxylic aminoaciduria DICER1 syndrome Didelphys uterus DIDMOAD syndrome Didymosis aplasticosebacea Diencephalic syndrome Diencephalic-mesencephalic junction dysplasia Diethylstilbestrol embryofetopathy Diethylstilbestrol syndrome Differentiated thyroid carcinoma Diffuse alveolar hemorrhage Diffuse angiokeratoma ORPHA Disease name number 251595 Diffuse astrocytoma Diffuse cerebral and cerebellar 404437 atrophy-intractable seizures79456 79456 220393 220393 2199 2199 702 3165 300849 300888 252031 141209 141209 141209 168811 2123 86918 369999 86918 171700 71274 66627 66627 567 567 238 141071 352487 1305 391641 31828 progressive microcephaly syndrome Diffuse cutaneous maculopapulous mastocytosis Diffuse cutaneous mastocytosis Diffuse cutaneous systemic scleroderma Diffuse cutaneous systemic sclerosis Diffuse erythrodermic palmoplantar keratoderma, Voerner type Diffuse erythrodermic palmoplantar keratoderma, Vörner type Diffuse familial brain sclerosis Diffuse fasciitis with eosinophilia Diffuse large B-cell lymphoma of the central nervous system Diffuse large B-cell lymphoma with chronic inflammation Diffuse leptomeningeal melanocytosis Diffuse lymphangioma Diffuse lymphangiomatosis Diffuse lymphatic malformation Diffuse malignant peritoneal mesothelioma Diffuse neonatal hemangiomatosis Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Diffuse palmoplantar keratoderma with painful fissures Diffuse palmoplantar keratodermaacrocyanosis syndrome Diffuse panbronchiolitis Diffuse peritoneal leiomyomatosis Diffuse-type GCT Diffuse-type giant cell tumor DiGeorge sequence DiGeorge syndrome Digestive duplication Digestive duplication cyst of the tongue Digital anomalies - intellectual disability - short stature Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1 Digitalis poisoning → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 47 ORPHA Disease name number →79500 Digitorenocerebral syndrome 1146 Digitotalar dysmorphism 294990 Digits 2-5 hypodactyly 295114 Digits 2-5 hypodactyly, bilateral 973 Digits 2-5 hypodactyly, unilateral 294990 Digits 2-5 oligodactyly 295114 Digits 2-5 oligodactyly, bilateral 973 319651 79244 2394 255182 79244 226 38874 1675 38874 99102 99102 99101 99101 2229 66634 231111 243343 →3157 314002 1493 227 1679 128 1681 1756 210115 166291 94064 35122 306446 306474 Digits 2-5 oligodactyly, unilateral Dihydrofolate reductase deficiency Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency Dihydrolipoamide dehydrogenase deficiency Dihydrolipoyl dehydrogenase deficiency Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency Dihydropteridine reductase deficiency Dihydropyrimidinase deficiency Dihydropyrimidine dehydrogenase deficiency Dihydropyrimidinuria Dilatation of the left appendage Dilatation of the left auricle Dilatation of the right atrial appendage Dilatation of the right atrial auricle Dilated cardiomyopathy hypergonadotropic hypogonadism Dilated cardiomyopathy with ataxia DILE Dimethylglycine dehydrogenase deficiency Dincsoy-Salih-Patel syndrome Dinno syndrome Dionisi-Vici-Sabetta-Gambarara syndrome Diphallia Diphtheria Diphyllobothriasis Diprosopia Dipygus DIRA Dirofilariasis DIS Disaccharide intolerance Disaccharide intolerance with minimal starch tolerance Disaccharide intolerance with starch and lactose intolerance ORPHA number 306436 306462 306486 90281 216694 99052 99051 90394 139420 210272 2412 8 2983 345 54251 1306 397587 141209 141209 141209 228264 71274 79152 1620 1627 254351 261102 1580 1590 1596 261222 319171 261257 1597 Disease name Disaccharide intolerance with starch intolerance Disaccharide intolerance without starch intolerance Disaccharide intolerance without sucrose intolerance Discoid lupus erythematosus Discordant ventriculoarterial and atrioventricular connections Discrete fibromuscular subaortic stenosis Discrete fixed membranous subaortic stenosis Discrete papular lichen myxedematosus Disease-associated transverse myelitis Disembarkment syndrome Dislocation of the hip dysmorphism Disomy Y Disorder of sex development intellectual disability Dissecting cellulitis of the scalp Disseminated aseptic abscesses Disseminated dermatofibrosis with osteopoikilosis Disseminated granulomatous dermatophytosis Disseminated lymphangioma Disseminated lymphangiomatosis Disseminated lymphatic malformation Disseminated nevus anelasticus Disseminated peritoneal leiomyomatosis Disseminated superficial actinic porokeratosis Distal 3p deletion Distal 5q deletion Distal 7q11.23 microdeletion syndrome Distal 7q11.23 microduplication syndrome Distal 10p deletion Distal 13q deletion Distal 15q deletion syndrome Distal 16p11.2 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.3 microdeletion syndrome Distal 17q deletion ORPHA number 261330 261337 63273 399096 178400 1146 2053 1147 376 65720 1154 329457 329457 329457 1144 3377 65743 115 251515 376 1154 65720 1154 254351 261222 319171 261257 261330 36367 280 96145 96125 96126 1636 1642 96148 2308 280325 96149 96168 96150 96129 96152 261102 261337 293939 96069 96070 Disease name Distal 22q11.2 microdeletion syndrome Distal 22q11.2 microduplication syndrome Distal ABD-filaminopathy Distal anoctaminopathy Distal anterior compartment myopathy Distal arthrogryposis type 1 Distal arthrogryposis type 2A Distal Arthrogryposis type 2B Distal arthrogryposis type 3 Distal arthrogryposis type 4 Distal arthrogryposis type 5 Distal arthrogryposis type 5 without ophthalmoparesis Distal arthrogryposis type 5 without ophthalmoplegia Distal arthrogryposis type 5D Distal arthrogryposis type 6 Distal arthrogryposis type 7 Distal arthrogryposis type 8 Distal arthrogryposis type 9 Distal arthrogryposis type 10 Distal arthrogryposis type IIA Distal arthrogryposis type IIB Distal arthrogryposis type IID Distal arthrogryposis with ophthalmoplegia Distal del(7)(q11.23) Distal del(16)(p11.2) Distal del(17)(p13.1) Distal del(17)(p13.3 ) Distal del(22)(q11.2) Distal deletion 1q Distal deletion 4p Distal deletion 4q Distal deletion 6p Distal deletion 7p Distal deletion 7q36 Distal deletion 9p Distal deletion 10q Distal deletion 11q Distal deletion 12p Distal deletion 12q Distal deletion 13q34 Distal deletion 14q Distal deletion 19p Distal deletion 20q Distal dup(7)(q11.23) Distal dup(22)(q11.2) Distal dup(X)q(28) Distal duplication 1p36 Distal duplication 2p → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 48 ORPHA Disease name number 96094 Distal duplication 2q 96071 Distal duplication 3p 96072 Distal duplication 4p 96096 96097 1745 96098 96074 96100 96101 96102 96103 96105 1705 1707 96078 96106 3379 1716 1717 96107 96109 1762 139518 139525 139547 139536 100998 98920 139589 357043 139552 1307 36367 1620 280 96145 1627 96125 96126 254351 1636 1642 1580 Distal duplication 4q Distal duplication 5q Distal duplication 6p Distal duplication 6q Distal duplication 7p Distal duplication 8q Distal duplication 9q Distal duplication 10q Distal duplication 11q Distal duplication 13q Distal duplication 14q Distal duplication 15q Distal duplication 16p Distal duplication 16q Distal duplication 17q Distal duplication 18q Distal duplication 19q Distal duplication 20q Distal duplication 22q Distal duplication Xq Distal hereditary motor neuropathy type 1 Distal hereditary motor neuropathy type 2 Distal hereditary motor neuropathy type 3 and type 4 Distal hereditary motor neuropathy type 5 Distal hereditary motor neuropathy type 5B Distal hereditary motor neuropathy type 6 Distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy with upper motor neuron signs Distal hereditary motor neuropathy, Jerash type Distal limb deficiencies micrognathia syndrome Distal monosomy 1q Distal monosomy 3p Distal monosomy 4p Distal monosomy 4q Distal monosomy 5q Distal monosomy 6p Distal monosomy 7p Distal monosomy 7q11.23 Distal monosomy 7q36 Distal monosomy 9p Distal monosomy 10p ORPHA Disease name number 96148 Distal monosomy 10q 2308 Distal monosomy 11q 280325 Distal monosomy 12p 96149 1590 96150 1596 261222 261257 1597 96129 96152 261330 59135 399086 178400 34521 63273 602 600 602 603 609 603 98911 2776 18 93611 93609 93610 139525 139547 206580 139536 139589 3248 314588 609 96069 96070 96094 96071 96072 Distal monosomy 12q Distal monosomy 13q Distal monosomy 14q Distal monosomy 15q Distal monosomy 16p11.2 Distal monosomy 17p13.3 Distal monosomy 17q Distal monosomy 19p13.3 Distal monosomy 20q Distal monosomy 22q11.2 Distal myopathy type 1 Distal myopathy type 3 Distal myopathy with anterior tibial onset Distal myopathy with early respiratory muscle involvement Distal myopathy with posterior leg and anterior hand involvement Distal myopathy with rimmed vacuoles Distal myopathy with vocal cord weakness Distal myopathy, Nonaka type Distal myopathy, Swedish type Distal myopathy, Udd type Distal myopathy, Welander type Distal myotilinopathy Distal osteolysis - short stature intellectual disability Distal renal tubular acidosis Distal renal tubular acidosis type 1b Distal renal tubular acidosis type 1c Distal renal tubular acidosis with anemia Distal spinal muscular atrophy type 2 Distal spinal muscular atrophy type 3 Distal spinal muscular atrophy type 4 Distal spinal muscular atrophy type 5 Distal spinal muscular atrophy with vocal cord paralysis Distal symphalangism Distal tetrasomy 15q Distal titinopathy Distal trisomy 1p36 Distal trisomy 2p Distal trisomy 2q Distal trisomy 3p Distal trisomy 4p ORPHA Disease name number 96096 Distal trisomy 4q 96097 Distal trisomy 5q 1745 Distal trisomy 6p 96098 96074 261102 96100 96101 96102 96103 96105 1705 1707 96078 96106 3379 1716 1717 96107 96109 261337 293939 293939 →33001 1916 1685 1685 404546 99099 99098 91131 3439 1775 300849 300888 2394 252031 221 273 98896 243343 243343 602 99812 251946 404443 251975 1215 217390 Distal trisomy 6q Distal trisomy 7p Distal trisomy 7q11.23 Distal trisomy 8q Distal trisomy 9q Distal trisomy 10q Distal trisomy 11q Distal trisomy 13q Distal trisomy 14q Distal trisomy 15q Distal trisomy 16p Distal trisomy 16q Distal trisomy 17q Distal trisomy 18q Distal trisomy 19q Distal trisomy 20q Distal trisomy 22q Distal trisomy 22q11.2 Distal trisomy Xq28 Distal Xq28 microduplication syndrome Distichiasis - congenital heart defects - peripheral vascular anomalies Distilbene embryofetopathy Distomatosis Distomiasis DITRA Divided left atrium Divided right atrium DK1-CDG DK phocomelia syndrome DKC DLBCL of the CNS DLBCL with chronic inflammation DLD deficiency DLM DM DM1 DMD DMG dehydrogenase deficiency DMGDH deficiency DMRV DNA ligase IV deficiency DNET DNMT3A-related overgrowth syndrome DNT of the cerebellum DOA+ DOCK8 immunodeficiency syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 49 ORPHA number 79322 91131 2616 86309 3427 231226 75376 898 244305 75376 90035 90035 2143 508 79500 79500 1942 70594 230 98907 3426 423712 99043 869 216694 1464 141091 3427 3426 423712 99047 99046 423693 99044 Disease name Dol-P-mannosyltransferase deficiency Dolichol kinase deficiency Dolichospondylic dysplasia Dolichyl-phosphate Nacetylgalactosamine phosphotransferase deficiency DOLV Dominant beta-thalassemia Dominant drusen Dominant hyaloideoretinal dystrophy of Wagner Dominant hypophosphatemia with nephrolithiasis or osteoporosis Dominant radial drusen Donath-Landsteiner hemolytic anemia Donath-Landsteiner syndrome Donnai-Barrow syndrome Donohue syndrome DOOR syndrome DOORS syndrome Doose syndrome Dopa-responsive dystonia due to sepiapterin reductase deficiency Dopamine beta-hydroxylase deficiency Dorfman-Chanarin disease DORV DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy DORV, Fallot type Double A syndrome Double discordance Double inlet left ventricle Double nose Double outlet left ventricle Double outlet right ventricle Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy Double outlet right ventricle with doubly committed ventricular septal defect Double outlet right ventricle with non-committed subpulmonary ventricular septal defect Double outlet right ventricle with subaortic or doubly committed ventricular septal defect Double outlet right ventricle with subaortic ventricular septal defect ORPHA number Disease name Double outlet right ventricle with 99045 subpulmonary ventricular septal 99043 3286 3411 3411 8 95474 79145 75376 86309 314621 71274 79322 329178 263494 231 231 220 33069 1674 70594 130 139402 101 233 18 93611 93609 93610 139402 139402 90037 90037 90157 231111 94086 33069 99887 98920 139525 139547 206580 314485 defect Double outlet right ventricle, Fallot type Double tachycardia induced by catecholamines Double uterus - hemivagina - renal agenesis Double uterus and obstructed hemivagina syndrome Double Y Double-orifice mitral valve Dowling-Degos disease Doyne honeycomb retinal dystrophy DPAGT1-CDG DPG-plus syndrome DPL DPM1-CDG DPM2-CDG DPM3-CDG Dracunculiasis Dracunculosis Drash syndrome Dravet syndrome DRC syndrome DRD due to SRD Dream disease DRESS syndrome DRPLA DRS dRTA dRTA type 1b dRTA type 1c dRTA with anemia Drug rash with eosinophilia and systemic symptoms Drug reaction eosinophilic systemic syndrome Drug-induced AIHA Drug-induced autoimmune hemolytic anemia Drug-induced localized lipodystrophy Drug-induced lupus erythematosus Drummond syndrome DS DS-AMKL dSMA1 dSMA2 dSMA3 dSMA4 dSMA5 ORPHA number 83469 DSRCT 412181 99789 99791 2639 50817 233 233 93293 261647 261638 234 234 235 98896 280315 2442 2348 137862 1203 250994 313947 294026 96095 329802 228415 314034 96121 251076 228399 276422 300305 261229 238446 261204 261243 96078 217385 139474 261272 217340 261290 363659 261318 1727 284180 284180 314389 Disease name DST-related epidermolysis bullosa simplex DTDP1 DTDP2 Du Pan syndrome Duane anomaly - myopathy scoliosis Duane retraction syndrome Duane syndrome Duane-radial ray syndrome Duane-radial ray syndrome due to a point mutation Duane-radial ray syndrome due to monosomy 20q13 Dubin-Johnson syndrome Dubin-Sprinz disease Dubowitz syndrome Duchenne muscular dystrophy Duct-centric pancreatitis Duncan disease Dunnigan syndrome Duodenal and extrahepatic biliary atresia - hypoplastic pancreas intestinal malrotation Duodenal atresia Dup(1)(q21.1) Dup(2)(q23.1) Dup(2)(q31.1) Dup(3)(q26) Dup(5)(p13) Dup(5)(q35) Dup(7)(p22.1) Dup(7)(q11.23) Dup(8)(p23.1) Dup(8)(q12) Dup(10)(q22.3q23.3) Dup(11)p(15.4) Dup(14)(q11.2) Dup(15)(q11q13) Dup(16)(p11.2p12.2) Dup(16)(p13.11) Dup(16)(p13.3) Dup(17)(p13.3) Dup(17)(q11.2) Dup(17)(q12) Dup(17)(q21.31) Dup(17p) Dup(20)(q11.2) Dup(20p) Dup(22)(q11) Dup(X)(p22) Dup(X)(p22.13p22.2) Dup(X)(q12-q13.3) → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 50 ORPHA Disease name number 261483 Dup(X)(q27.3q28) 261344 Duplication 1q 1738 Duplication 4p Duplication 5p 264450 Duplication 8p 1752 Duplication 8q 96167 Duplication 8q/deletion 8p 236 Duplication 9p 1699 Duplication 12p 1715 Duplication 18p 1727 Duplication 22q11.2 261318 Duplication of 20p 314621 Duplication of the pituitary gland Duplication of the pituitary gland314621 plus syndrome Duplication of the short arm of 1738 chromosome 4 Duplication of the short arm of 1742 chromosome 5 Duplication of the short arm of 236 chromosome 9 Duplication of the short arm of 1715 chromosome 18 237 Duplication of urethra 284180 Duplication Xp22 3306 Duplication/inversion 15q11 97339 Dural sinus malformation 1656 Durhing-Brocq disease 233 DURS →331176 Dursun syndrome 98984 Dusty cataract 3377 Dutch-Kentucky syndrome Dwarfism - intellectual disability 2650 eye abnormality Dwarfism - stiff joint - ocular 2569 abnormalities →2616 Dwarfism - tall vertebrae 1566 DWM with postaxial polydactyly 239 Dyggve-Melchior-Clausen disease 2274 Dykes-Markes-Harper syndrome 296 Dyschondroplasia 1765 Dyschondrosteosis - nephritis Dyschromatosis symmetrica 41 hereditaria 241 Dyschromatosis universalis Dysembryoplastic neuroepithelial 251946 tumor Dysembryoplastic neuroepithelial 251975 tumor of cerebellum 1766 Dysequilibrium syndrome Dysgerminomatous germ cell 99912 cancer of ovary Dysharmonic skeletal maturation 3010 muscular fiber disproportion 1775 Dyskeratosis congenita 1742 ORPHA number 3088 412 1779 289553 1780 2104 2282 2282 1782 800 1798 99082 1822 168621 398189 2204 65285 325 2476 1804 156731 1865 85198 71517 →98808 210571 98811 420492 420485 256 412217 199351 293381 293381 79409 89843 Disease name Dyskeratosis congenita with bilateral exudative retinopathy Dyslipidemia type 3 Dysmorphism - cleft palate - loose skin Dysmorphism - conductive hearing loss - heart defect Dysmorphism - multiple structural anomalies Dysmorphism - pectus carinatum joint laxity Dysmorphism - short stature deafness - disorder of sex development Dysmorphism - short stature deafness - pseudohermaphroditism Dysosteosclerosis Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Dysostosis, Stanescu type Dysphagia lusoria Dysplasia epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplasie faciale focale préauriculaire Dysplastic cortical hyperostosis Dysplastic gangliocytoma of the cerebellum Dysprothrombinemia Dysraphism - cleft lip/palate - limb reduction defects Dyssegmental dysplasia - glaucoma Dyssegmental dysplasia, RollandDesbuquois type Dyssegmental dysplasia, SilvermanHandmaker type Dysspondyloenchondromatosis Dystonia 12 Dystonia 14 Dystonia 16 Dystonia 18 Dystonia 23 Dystonia 24 Dystonia musculorum deformans Dystonia-aphonia syndrome Dystonia-parkinsonism, Paisan-Ruiz type Dystrophia Helsinglandica Dystrophia Smolandiensis Dystrophic epidermolysis bullosa inversa Dystrophic epidermolysis bullosa pruriginosa ORPHA number 158676 256 99657 53351 98805 98808 101150 98806 53583 36899 71517 98807 101151 210566 210571 98811 306734 420492 420485 2394 231249 2970 40923 2554 1934 1934 369894 1935 1935 411986 157941 1020 98815 1177 84132 1667 210571 Disease name Dystrophic epidermolysis bullosa, nails only DYT1 DYT2 DYT3 DYT4 DYT5a DYT5b DYT6 DYT9 DYT11 DYT12 DYT13 DYT14 DYT15 DYT16 DYT18 DYT21 DYT23 DYT24 E3-deficient maple syrup urine disease E-beta-thalassemia Eagle-Barret syndrome Eales disease Ear-patella-short stature syndrome Early infantile epileptic encephalopathy Early infantile epileptic encephalopathy with suppressionbursts Early infantile epileptic encephalopathy without suppression burst Early myoclonic encephalopathy Early myoclonic encephalopathy with suppression-bursts Early onset epileptic encephalopathy-cortical blindnessintellectual disability-facial dysmorphism syndrome Early onset prion disease with prominent psychiatric features Early-onset autosomal dominant Alzheimer disease Early-onset benign childhood occipital epilepsy Early-onset cerebellar ataxia with retained tendon reflexes Early-onset desmin-related myopathy Early-onset diabetes mellitus with multiple epiphyseal dysplasia Early-onset dystonia parkinsonism → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 51 ORPHA number Disease name Early-onset epileptic 289266 encephalopathy and intellectual 1020 256 256 88660 324290 79242 289377 217052 2828 2379 256 352654 →90340 364055 313772 256 1243 98890 199343 391320 83594 83594 1973 166418 86880 79406 79405 319218 319218 319218 412181 412189 89838 79400 257 158681 79397 79401 158684 89839 disability due to GRIN2A mutation Early-onset familial autosomal dominant Alzheimer disease Early-onset generalized limb-onset dystonia Early-onset generalized torsion dystonia Early-onset hypertension with exacerbation in pregnancy Early-onset Lafora body disease Early-onset multiple carboxylase deficiency Early-onset myopathy with fatal cardiomyopathy Early-onset non-syndromic cataract Early-onset Parkinson disease Early-onset parkinsonism intellectual disability Early-onset primary dystonia Early-onset progressive neurodegeneration - blindness ataxia - spasticity Early-onset sarcoidosis Early-onset severe retinal dystrophy Early-onset spastic ataxianeuropathy syndrome Early-onset torsion dystonia Early-onset vitelliform macular dystrophy Early-onset X-linked optic atrophy EAST syndrome East Texas bleeding disorder Eastern equine encephalitis Eastern equine encephalomyelitis Eastman-Bixler syndrome Eating seizures EATL EB progressive EBJ-I Ebola fever Ebola hemorrhagic fever Ebola virus disease EBS-AR BP230 EBS-AR exophilin 5 EBS-AR KRT14 EBS-loc EBS-MD EBS-migr EBS-MP EBS-O EBS-PA EBSS ORPHA number 1880 1880 313920 289661 313920 50944 199332 1889 99102 99102 99101 99101 35737 →1658 140936 3391 1806 3354 247827 1897 1812 1883 158668 247820 3022 69083 1809 1816 3022 1818 423454 1884 1885 99889 Disease name Ebstein anomaly of the tricuspid valve Ebstein malformation EBV-associated gastric carcinoma EBV-positive DLBCL of the elderly EBVaGC Eccrine tumors-ectodermal dysplasia ECO syndrome ECP syndrome Ectasia of the left appendage Ectasia of the left auricle Ectasia of the right atrial appendage Ectasia of the right atrial auricle Ectasic coloboma Ectodermal dysplasia - absent dermatoglyphs Ectodermal dysplasia - acanthosis nigricans Ectodermal dysplasia - adrenal cyst Ectodermal dysplasia - blindness Ectodermal dysplasia - cataracts kyphoscoliosis Ectodermal dysplasia - cutaneous syndactyly syndrome Ectodermal dysplasia - ectrodactyly - macular dystrophy Ectodermal dysplasia - intellectual disability - central nervous system malformation Ectodermal dysplasia sensorineural deafness Ectodermal dysplasia - skin fragility syndrome Ectodermal dysplasia - syndactyly syndrome Ectodermal dysplasia syndrome, Rapp-Hodgkin type Ectodermal dysplasia with natal teeth, Turnpenny type Ectodermal dysplasia with skin anomalies and intellectual disability Ectodermal dysplasia, Berlin type Ectodermal dysplasia, RappHodgkin type Ectodermal dysplasia, trichoodontoonychial type Ectodermal dysplasia-short stature syndrome Ectopia lentis - chorioretinal dystrophy - myopia Ectopia lentis syndrome Ectopic ACTH secreting tumor ORPHA number 231632 99889 95496 2440 →1896 1896 →1896 1892 1894 1997 906 98813 247827 293936 1895 93308 93307 93311 261 98863 98853 98855 90309 90318 285 286 198 286 75497 1900 1899 99875 99876 1901 75392 82004 300179 300179 75501 2295 2953 230851 287 Disease name Ectopic aldosterone-producing tumor Ectopic Cushing syndrome Ectopic neurohypophysis Ectrodactyly Ectrodactyly - cleft palate Ectrodactyly - ectodermal dysplasia - cleft lip/palate Ectrodactyly - ectodermal dysplasia without clefting Ectrodactyly - polydactyly Ectrodactyly - spina bifida cardiopathy Ectropion inferior - cleft lip and or palate Eczema-thrombocytopeniaimmunodeficiency syndrome EDA-ID EDCS EDICT syndrome Edinburgh malformation syndrome EDM1 EDM4 EDM5 EDMD EDMD1 EDMD2 EDMD3 EDS I EDS II EDS III EDS IV EDS IX EDS type 4 EDS V EDS VIA EDS VII EDS VIIA EDS VIIB EDS VIIC EDS VIII EDS with periventricular heterotopia EDS with progressive kyphoscoliosis, myopathy, and deafness EDS with progressive kyphoscoliosis, myopathy, and hearing loss EDS X EDS XI EDS, arthrogryposic type EDS, cardiac valvular type EDS, classic type → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 52 ORPHA Disease name number 230839 EDS, classic-like type 2953 EDS, Kosho type 300179 1900 2953 1900 75496 157965 230845 230857 247820 247820 247827 178464 3380 2668 322 1896 1888 1897 240869 357131 101039 2070 183 319218 312 230839 90309 90318 285 286 75497 1900 1899 99875 99876 1901 75392 75501 2295 286 198 82004 75501 300179 EDS, kyphoscoliotic and hearing loss type EDS, kyphoscoliotic type EDS, musculocontractural type EDS, oculoscoliotic type EDS, progeroid type EDS, spondylocheirodysplastic type EDS, vascular-like type EDS/OI syndrome EDSS EDSS1 EDSS2 Edström Myopathy Edwards syndrome Edwards-Patton-Dilly syndrome EEC EEC syndrome EEC syndrome without cleft lip/palate EEM syndrome Efavirenz toxicity Effort subclavian vein thrombosis EFMR EGE EGPA EHF EHK Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos syndrome type 1 Ehlers-Danlos syndrome type 2 Ehlers-Danlos syndrome type 3 Ehlers-Danlos syndrome type 4 Ehlers-Danlos syndrome type 5 Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome type 7 Ehlers-Danlos syndrome type 7A Ehlers-Danlos syndrome type 7B Ehlers-Danlos syndrome type 7C Ehlers-Danlos syndrome type 8 Ehlers-Danlos syndrome type 10 Ehlers-Danlos syndrome type 11 Ehlers-Danlos syndrome type IV Ehlers-Danlos syndrome type IX Ehlers-Danlos syndrome with periventricular heterotopia Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness ORPHA number Disease name Ehlers-Danlos syndrome with 300179 progressive kyphoscoliosis, 1899 1899 2953 230851 287 230839 1901 75501 75501 285 285 2953 300179 300179 1900 2953 1900 75392 75496 157965 198 286 230845 230857 1902 820 312 1934 165991 79106 myopathy, and hearing loss Ehlers-Danlos syndrome, arthrochalasia type Ehlers-Danlos syndrome, arthrochalasic type Ehlers-Danlos syndrome, arthrogryposic type Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, classic-like type Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome, fibronectin-deficient Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndrome, hypermobile type Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, Kosho type Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type Ehlers-Danlos syndrome, kyphoscoliotic type Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, oculoscoliotic type Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndrome, progeroid type Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, type 9 Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome, vascularlike type Ehlers-Danlos/osteogenesis imperfecta syndrome Ehrlichiosis Ehrmann-Sneddon syndrome EI EIEE EIHI Eiken syndrome ORPHA Disease name number 97214 Eisenmenger syndrome 317 EKV 228240 Elastoderma 228243 Elastofibroma dorsi 228254 Elastoma 79148 Elastosis perforans serpiginosa 228236 Elastotic striae 26791 26791 33445 221054 289 2516 1997 96170 1942 3226 1914 180226 48736 48736 99757 178315 1664 983 139431 98863 261 1927 83600 221126 2396 3205 319678 1261 1035 71277 79155 Electron transfer flavoprotein deficiency Electron transfer flavoprotein ubiquinone oxidoreductase deficiency Elejalde disease Elejalde syndrome Ellis Van Creveld syndrome Ellis-Yale-Winter syndrome Elsching syndrome Emanuel syndrome EMAS Emberger syndrome Embryofetopathy due to oral anticoagulant therapy Embryonal carcinoma Embryonal carcinoma of the central nervous system Embryonal carcinoma of the CNS Embryonal rhabdomyosarcoma Embryonal sarcoma of the liver Embryonary disorganization syndrome Embryonic testicular regression syndrome EMEA Emerinopathy Emery-Dreifuss muscular dystrophy Emery-Nelson syndrome Encephalitis lethargica Encephaloclastic proliferative vasculopathy Encephalocraniocutaneous lipomatosis Encephalofacial angiomatosis Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease Encephalopathy - intracerebral calcification - retinal degeneration Encephalopathy due to betamercaptolactate-cysteine disulfiduria Encephalopathy due to GLUT1 deficiency Encephalopathy due to hydroxykynureninuria → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 53 ORPHA number 139406 833 210128 51 51 3205 296 99075 100082 100080 100081 100079 199332 876 252006 252006 98974 213741 213726 213716 213711 213746 213721 2022 199323 209959 2790 85186 293936 137602 1937 53540 60015 83620 141071 99745 86880 Disease name Encephalopathy due to prosaposin deficiency Encephalopathy due to sulfite oxidase deficiency Encephalopathy due to urocanase deficiency Encephalopathy with basal ganglia calcification Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid Encephalotrigeminal angiomatosis Enchondromatosis Encircling double aortic arch Endocrine tumor of anal canal Endocrine tumor of colon Endocrine tumor of rectum Endocrine tumor of the appendix Endocrine-cerebro-osteodysplasia syndrome Endodermal sinus tumor Endodermal sinus tumor of central nervous system Endodermal sinus tumor of CNS Endoepithelial corneal dystrophy Endometrial adenoid cystic carcinoma Endometrial capillary carcinoma Endometrial squamous cell carcinoma Endometrial stromal sarcoma Endometrial transitional cell carcinoma Endometrial undifferentiated carcinoma Endomyocardial fibroelastosis Endophthalmitis Endophthalmitis phacoanaphylactica Endosteal hyperostosis, Worth type Endosteal sclerosis - cerebellar hypoplasia Endothelial dystrophy-iris hypoplasia-congenital cataractstromal thinning syndrome Endotheliitis Eng-Strom syndrome Enhanced S-cone syndrome Enlarged parietal foramina Enteric anendocrinosis Enteric duplication cyst of the tongue Enteric fever Enteropathy-associated T-cell lymphoma ORPHA Disease name number 86880 Enteropathy-type T-cell lymphoma 292 Enterovirus antenatal infection 85438 Enthesitis-related arthritis 1939 1939 1177 1177 370334 73247 1020 168829 901 402035 75566 2070 73247 3165 2070 2070 99871 183 482 364055 256 251880 251636 99169 185 83314 35125 35125 302 46487 79404 412181 412189 158668 79400 89839 2325 158681 79397 Envenomization by Bothrops lanceolatus Envenomization by the Martinique lancehead viper EOCA EOCARR EOE EoE EOFAD EOPPC Eosinophilic cellulitis Eosinophilic colitis Eosinophilic endocarditis Eosinophilic enteritis Eosinophilic esophagitis Eosinophilic fasciitis Eosinophilic gastroenteritis Eosinophilic gastroenterocolitis Eosinophilic granuloma Eosinophilic granulomatosis with polyangiitis Eosinophilic lymphogranuloma EOSRD EOTD Ependymoblastoma Ependymoma Epiblepharon Epibronchial right pulmonary artery syndrome Epidemic typhus Epidermal hamartoma syndrome Epidermal nevus syndrome Epidermodysplasia verruciformis Epidermolysis bullosa acquisita Epidermolysis bullosa letalis Epidermolysis bullosa simplex due to BP230 deficiency Epidermolysis bullosa simplex due to exophilin 5 deficiency Epidermolysis bullosa simplex due to plakophilin deficiency Epidermolysis bullosa simplex of palms and soles Epidermolysis bullosa simplex superficialis Epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with mottled pigmentation ORPHA number 257 158684 79396 79396 79399 79399 79401 79400 312 312 2199 2199 2199 141077 1946 1948 65683 1951 86911 1942 1942 411986 725 353217 79238 1819 1825 1824 1952 399329 399329 649 Disease name Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, herpetiformis Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Köbner type Epidermolysis bullosa simplex, Ogna type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolytic hyperkeratosis Epidermolytic ichthyosis Epidermolytic palmoplantar keratoderma Epidermolytic palmoplantar keratoderma of Voerner Epidermolytic palmoplantar keratoderma of Vörner Epignathus Epilepsy - dementia - amelogenesis imperfecta Epilepsy - microcephaly - skeletal dysplasia Epilepsy due to FCD Epilepsy telangiectasia Epilepsy with myoclonic absences Epilepsy with myoclonic-astatic seizures Epilepsy with myoclonic-atonic seizures Epilepsy-cortical blindnessintellectual disability-facial dysmorphism syndrome Epileptic encephalopathy with continuous spike-and-wave during slow sleep Epileptic encephalopathy with global cerebral demyelination Epimerase deficiency galactosemia Epimetaphyseal skeletal dysplasia Epiphyseal dysplasia - hearing loss dysmorphism Epiphyseal dysplasia - microcephaly - nystagmus Epiphyseal stippling syndrome osteoclastic hyperplasia Epiphysiolysis of the hip Epiphysiolysis of the upper femur Episkopi blindness → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 54 ORPHA number Disease name Episodic ataxia - vertigo - tinnitus myokymia 37612 Episodic ataxia type 1 97 Episodic ataxia type 2 79135 Episodic ataxia type 3 79136 Episodic ataxia type 4 211067 Episodic ataxia type 5 209967 Episodic ataxia type 6 209970 Episodic ataxia type 7 401953 Episodic ataxia type 8 37612 Episodic ataxia with myokymia 401953 Episodic ataxia with slurred speech 53583 Episodic choreoathetosis/spasticity 29822 Episodic spontaneous hypothermia 93928 Epispadias Epithelial recurrent erosion 293381 dystrophy Epithelio-exfoliative colitis 103912 deafness 157791 Epithelioid hemangioendothelioma 293202 Epithelioid sarcoma 254698 Epithelioid trophoblastic tumor 91414 Epithelioma calcificans of Malherbe 79278 EPP 2199 EPPK →182050 Epstein syndrome Epstein-Barr virus-associated 313920 gastric carcinoma Epstein-Barr virus-positive diffuse 289661 large B-cell lymphoma of the elderly 85438 ERA 229 Erdheim disease 35687 Erdheim-Chester disease 293381 ERED 999 Ermine phenotype 160148 Eroded polypoid hyperplasia Eronen-Somer-Gustafsson 1674 syndrome Erosive pustular dermatosis of the 222 scalp 228264 Eruptive collagenoma 90000 Erythema elevatum diutinum 231031 Erythema palmaris hereditarium 729 Erythremia Erythrocyte epimerase deficiency 308473 galactosemia Erythrocyte galactose epimerase 308473 deficiency 308473 Erythrocyte GALE deficiency 308473 Erythrocyte GALE-D Erythrocyte lactate transporter 171690 defect Erythrocyte UDP-galactose-4308473 epimerase deficiency 79135 ORPHA number 308473 314 79394 247165 315 316 317 171851 171851 317 1955 50943 318 1956 79278 280379 99977 2405 2990 2990 99976 1199 418945 100047 99977 99977 91138 2056 98981 91138 2843 98682 3318 3318 1957 785 3318 31826 51188 983 86880 2892 99172 1959 2990 319 Disease name Erythrocyte uridine diphosphate galactose-4-epimerase deficiency Erythroderma desquamativum Erythrodermic ichthyosis Erythroedema polyneuritis Erythrokeratoderma "en cocardes" Erythrokeratodermia progressiva symmetrica Erythrokeratodermia variabilis Erythrokeratodermia variabilis 3 Erythrokeratodermia variabilis, Kamouraska type Erythrokeratodermia variabilis, Mendes da Costa type Erythrokeratodermia with ataxia Erythrokeratolysis hiemalis Erythroleukemia Erythromelalgia Erythropoietic protoporphyria Erythropoietic uroporphyria associated with myeloid malignancy ESCC Escher-Hirt syndrome Escobar syndrome Escobar variant multiple pterygium syndrome Esophageal adenocarcinoma Esophageal atresia Esophageal carcinoma, salivary gland type Esophageal duplication cyst Esophageal epidermoid carcinoma Esophageal squamous cell carcinoma Essential cryoglobulinemia Essential fructosuria Essential iris atrophy Essential mixed cryoglobulinemia Essential pentosuria Essential strabismus Essential thrombocythemia Essential thrombocytosis Esthesioneuroblastoma Estrogen resistance syndrome ET Ethylene glycol poisoning Ethylmalonic encephalopathy ETRS ETTL Euhidrotic ectodermal dysplasia Euryblepharon Evans syndrome EVMPS Ewing sarcoma ORPHA number 99734 165991 165991 289586 2853 116 1962 374 322 321 3294 141074 141074 231632 168829 66662 182127 280811 280811 2800 86850 100022 100002 52417 86879 370334 370334 370334 370334 209916 1964 251927 2725 3172 2985 Disease name Exercise-induced delayed-onset myotonia Exercise-induced hyperinsulinemic hypoglycemia Exercise-induced hyperinsulinism Exfoliative ichthyosis Exner syndrome Exomphalos - macroglossia gigantism Exostoses - anetodermia brachydactyly type E Expanded spectrum of hemifacial microsomia Exstrophy-epispadias complex EXT1/EXT2-CDG Extensor tendons of finger anomalies External auditory canal aplasia/hypoplasia External auditory canal stenosis/atresia Extra-adrenal aldosteroneproducing tumor Extra-ovarian primary peritoneal carcinoma Extracutaneous mastocytoma Extragonadal germinoma Extralobar congenital bronchopulmonary sequestration Extralobar congenital pulmonary sequestration Extramammary Paget disease Extramedullary myeloid tumor Extramedullary soft tissue plasmacytoma Extraneural perineurioma Extranodal marginal zone B-cell lymphoma Extranodal nasal NK/T cell lymphoma Extraosseous Ewing sarcoma Extraosseous Ewing tumor Extraskeletal Ewing sarcoma Extraskeletal Ewing tumor Extraskeletal myxoid chondrosarcoma Extrasystoles - short stature hyperpigmentation - microcephaly Extraventricular neurocytoma Eye defects - arachnodactyly cardiopathy Eyebrow duplication - syndactyly Eyebrows and eyelashes absence intellectual disability → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 55 ORPHA number 139431 35909 957 95 324 1969 1167 141051 1678 352712 2588 1970 1778 412022 412022 221083 85162 3237 1974 1300 2143 2048 374 1973 3071 915 915 269 269 269 98879 220436 98878 300359 Disease name Eyelid myoclonia with and without absences F5F8D F syndrome FA Fabry disease FACES syndrome Facial asymmetry - temporal seizures Facial dermoid cyst Facial dysmorphism - ambiguous genitalia - hypopituitarism - short limbs Facial dysmorphism immunodeficiency - livedo - short stature Facial dysmorphism - intellectual disability - short stature - hearing loss Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation Facial dysmorphism - shawl scrotum - joint laxity Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Facial hemispasm Facial onset sensory and motor neuronopathy Facio-audio-symphalangism Facio-digito-genital syndrome, Kuwait type Facio-genito-popliteal syndrome Facio-oculo-acoustico-renal syndrome Facio-pharyngo-glosso-masticatory diplegia Facioauriculovertebral dysplasia Faciocardiorenal syndrome Faciocutaneoskeletal syndrome Faciodigitogenital syndrome Faciogenital dysplasia Facioscapulohumeral dystrophy Facioscapulohumeral muscular dystrophy Facioscapulohumeral myopathy Factor IX deficiency Factor V Quebec Factor VIII deficiency FACU ORPHA Disease name number 306550 FADD-related immunodeficiency 994 FADS 882 FAH deficiency 329308 FAHN →168569 Faisalabad histiocytosis 3304 86814 397685 86 637 637 88619 733 261584 261584 261584 404 95700 95700 95700 86814 164736 98880 1020 280397 319465 85450 93560 238269 93562 93561 85447 85448 85448 228277 199279 91378 229 425 Fallot complex - intellectual disability - growth delay FAME Familial hyperprolactinemia Familial abdominal aortic aneurysm Familial acoustic neurinoma Familial acoustic neuroma Familial acute necrotizing encephalopathy Familial adenomatous polyposis Familial adenomatous polyposis due to 5q22.2 microdeletion Familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to monosomy 5q22.2 Familial adrenal adenoma Familial adrenal hypoplasia with absent pituitary LH Familial adrenal hypoplasia with absent pituitary luteinizing hormone Familial adrenal hypoplasia, miniature type Familial adult myoclonic epilepsy Familial advanced sleep-phase syndrome Familial afibrinogenemia Familial Alzheimer disease Familial Alzheimer-like prion disease Familial AML Familial amyloid nephropathy Familial amyloid nephropathy due to apolipoprotein AI variant Familial amyloid nephropathy due to apolipoprotein AII variant Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Familial amyloid nephropathy due to lysozyme variant Familial amyloid polyneuropathy Familial amyloid polyneuropathy type 4 Familial amyloidosis, Finnish type Familial anetoderma Familial angiolipomatosis Familial angioneurotic edema Familial aortic dissection Familial apoA-I deficiency ORPHA Disease name number 309020 Familial apoC-II deficiency 309020 1416 334 615 300359 404560 404560 404560 86820 2398 2841 1551 363989 405 405 231160 402075 221061 221061 227535 227535 36382 2678 1416 91415 1768 1416 169085 892 221061 221061 231160 36382 1428 404560 293144 238578 293150 199315 Familial apolipoprotein C-II deficiency Familial articular chondrocalcinosis Familial atrial fibrillation Familial atrial myxoma Familial atypical cold urticaria Familial atypical mole syndrome Familial atypical multiple mole melanoma syndrome Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome Familial avascular necrosis of femoral head Familial benign cervical lipomatosis Familial benign chronic pemphigus Familial benign copper deficiency Familial benign flecked retina Familial benign hypercalcemia Familial benign hypocalciuric hypercalcemia Familial berry aneurysm Familial bicuspid aortic valve Familial brain cavernous angioma Familial brain cavernous hemangioma Familial breast cancer Familial breast carcinoma Familial CAD Familial café-au-lait spots Familial calcium pyrophosphate deposition Familial capillary hemangioma Familial caudal dysgenesis Familial CC Familial CD8 deficiency Familial cerebelloretinal angiomatosis Familial cerebral cavernoma Familial cerebral cavernous malformation Familial cerebral saccular aneurysm Familial cervical artery dissections Familial chondromalacia patellae Familial Clark nevus syndrome Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to PITX1 point mutation Familial clubfoot with or without associated lower limb anomalies → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 56 ORPHA number 47045 247868 47045 300359 238722 95494 238722 91498 86814 319189 1416 85453 53296 313846 211 97345 97346 313808 1799 26106 26106 85169 300751 18 85192 75376 79142 1764 314381 412 98881 324588 404560 1885 2762 85110 101039 391384 Disease name Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome type 2 Familial cold urticaria Familial cold urticaria with common variable immunodeficiency Familial congenital controlateral synkinesia Familial congenital hypopituitarism Familial congenital mirror movements Familial congenital palsy of trochlear nerve Familial cortical myoclonic tremor and epilepsy Familial cortical myoclonus Familial CPPD Familial cutaneous amyloidosis Familial cutaneous collagenoma Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Familial cylindromatosis Familial dementia, British type Familial dementia, Danish type Familial dementia, Neumann type Familial developmental dysphasia Familial diffuse cancer of stomach Familial diffuse gastric cancer Familial digital arthropathybrachydactyly Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial distal primary acidosis Familial doughnut lesions of skull Familial drusen Familial Dupuytren contracture Familial dysautonomia Familial dysautonomia with contractures Familial dysbetalipoproteinemia Familial dysfibrinogenemia Familial dyskinesia and facial myokymia Familial dysplastic nevus syndrome Familial ectopia lentis Familial ectopic ossification Familial encephalopathy with neuroserpin inclusion bodies Familial epilepsy and mental retardation limited to females Familial episodic pain syndrome ORPHA number Disease name Familial episodic pain syndrome 391392 with predominantly lower limb 391389 90042 225968 85195 891 98820 314022 231040 99819 361 3000 540 32960 540 2604 404 251274 403 404 251274 79506 94086 238475 411 178345 757 682 412 682 99763 99764 424 413 427 425 405 involvement Familial episodic pain syndrome with predominantly upper body involvement Familial erythrocytosis Familial essential thrombocythemia Familial expansile osteolysis Familial exudative vitreoretinopathy Familial focal epilepsy with variable foci Familial fundic gland polyposis with gastric cancer Familial generalized lentiginosis Familial gestational hyperthyroidism Familial glucocorticoid deficiency Familial gonadotropin-independent male-limited sexual precocity Familial hemophagocytic lymphohistiocytosis Familial Hibernian fever Familial HLH Familial hollow visceral myopathy Familial hyperaldosteronism type 2 Familial hyperaldosteronism type 3 Familial hyperaldosteronism type I Familial hyperaldosteronism type II Familial hyperaldosteronism type III Familial hyperalphalipoproteinemia Familial hypercalcemia nephrocalcinosis - indicanuria Familial hypercholanemia Familial hyperchylomicronemia Familial hyperestrogenism Familial hyperkalemic hypertension Familial hyperkalemic periodic paralysis Familial hyperlipoproteinemia type 3 Familial hyperPP Familial hyperreninemic hypoaldosteronism type 1 Familial hyperreninemic hypoaldosteronism type 2 Familial hyperthyroidism due to mutations in TSH receptor Familial hypertriglyceridemia Familial hypoaldosteronism Familial hypoalphalipoproteinemia Familial hypocalciuric hypercalcemia ORPHA number 93372 101049 101050 248408 101041 440 225154 1677 656 656 93214 93217 93213 93213 93216 225154 300373 300547 352582 352582 225154 225154 2454 2300 231160 217656 217656 Disease name Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial hypodysfibrinogenemia Familial hypofibrinogenemia Familial hypospadias Familial IBSN Familial idiopathic dilatation of the right atrium Familial idiopathic nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes Familial infantile bilateral striatal necrosis Familial infantile gigantism Familial infantile hypercalcemia with suppressed intact parathyroid hormone Familial infantile myoclonic epilepsy Familial infantile myoclonus epilepsy Familial infantile striatonigral degeneration Familial infantile striatonigral necrosis Familial intestinal malrotation facial anomalies Familial intestinal polyatresia syndrome Familial intracranial saccular aneurysm Familial isolated arrhythmogenic right ventricular cardiomyopathy Familial isolated arrhythmogenic right ventricular dysplasia → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 57 ORPHA number 217656 293899 293910 293888 293910 217656 293899 293910 293888 293910 217656 217656 295014 101351 154 99879 2238 2239 189466 314777 397685 75249 411788 96 2295 2295 180176 Disease name Familial isolated arrhythmogenic ventricular cardiomyopathy Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form Familial isolated arrhythmogenic ventricular dysplasia Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, classic form Familial isolated arrhythmogenic ventricular dysplasia, left dominant form Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Familial isolated ARVC Familial isolated ARVD Familial isolated clinodactyly of fingers Familial isolated congenital asplenia Familial isolated dilated cardiomyopathy Familial isolated hyperparathyroidism Familial isolated hypoparathyroidism Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Familial isolated hypoparathyroidism due to impaired PTH secretion Familial isolated pituitary adenoma Familial isolated prolactin receptor deficiency Familial isolated restrictive cardiomyopathy Familial isolated trichomegaly Familial isolated vitamin E deficiency Familial joint instability syndrome Familial joint laxity Familial juvenile gigantomastia ORPHA number 209886 180176 209886 217330 493 293936 3267 79293 523 523 523 231040 871 871 871 309015 768 75381 3000 401942 342 99361 35858 618 165805 741 276399 99361 276399 35909 523 338 500 231040 199276 263662 624 624 Disease name Familial juvenile gouty nephropathy Familial juvenile hypertrophy of the breast Familial juvenile hyperuricemic nephropathy type 1 Familial juvenile hyperuricemic nephropathy type 2 Familial keratoacanthoma Familial keratoconus with cataract Familial lambdoid synostosis Familial LCAT deficiency Familial leiomyomatosis and renal cell cancer Familial leiomyomatosis cutis et uteri Familial leiomyomatosis with renal carcinoma Familial lentigines profusa Familial Lenègre disease Familial Lev disease Familial Lev-Lenègre disease Familial lipoprotein lipase deficiency Familial long QT syndrome Familial macular edema Familial male-limited precocious puberty Familial median cleft of the upper and lower lips Familial Mediterranean fever Familial medullary thyroid carcinoma Familial megaloblastic anemia Familial melanoma Familial mesial temporal lobe epilepsy with febrile seizures Familial mitral valve prolapse Familial MNG Familial MTC Familial multinodular goiter Familial multiple coagulation factor deficiency Familial multiple cutaneous leiomyomas Familial multiple fibrofolliculoma Familial multiple lentigines syndrome Familial multiple lentigines syndrome without systemic involvement Familial multiple lipomatosis Familial multiple meningioma Familial multiple nevi flammei Familial multiple port-wine stains ORPHA Disease name number 867 Familial multiple trichoepithelioma 922 Familial nasal acilia 209886 Familial nephropathy with gout 424 88632 280403 154 75249 569 251262 2769 2801 86820 79093 1333 1333 319487 97290 99877 99878 97 98809 342 228140 98820 280356 79083 79085 79084 2348 79083 2348 79084 Familial non-immune hyperthyroidism Familial ocular anterior segment mesenchymal dysgenesis Familial omphalocele syndrome with facial dysmorphism Familial or idiopathic dilated cardiomyopathy Familial or idiopathic restrictive cardiomyopathy Familial or sporadic hemiplegic migraine Familial osteochondritis dissecans Familial osteodysplasia, Anderson type Familial osteoectasia Familial osteonecrosis of the femoral head Familial osteosclerosis with abnormalities of the nervous system and meninges Familial pancreatic cancer Familial pancreatic carcinoma Familial papillary or follicular thyroid carcinoma Familial papillary thyroid carcinoma with renal papillary neoplasia Familial parathyroid adenoma Familial parathyroids hyperplasia Familial paroxysmal ataxia Familial paroxysmal kinesigenic dyskinesia Familial paroxysmal polyserositis Familial paroxysmal ventricular fibrillation, not Brugada type Familial partial epilepsy with variable foci Familial partial lipodystrophy associated with PLIN1 mutations Familial partial lipodystrophy associated with PPARG mutations Familial partial lipodystrophy due to AKT2 mutations Familial partial lipodystrophy type 1 Familial partial lipodystrophy type 2 Familial partial lipodystrophy type 3 Familial partial lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 58 ORPHA Disease name number 871 Familial PCCD 93333 Familial pelvis-scapular dysplasia 29072 98809 71290 71290 71290 330061 733 261584 99810 2196 31043 34527 353220 2257 65748 871 871 280628 79146 313808 1767 1331 90044 →3202 275777 319487 1675 Familial pheochromocytomaparaganglioma Familial PKD Familial platelet disorder with associated myeloid malignancy Familial platelet syndrome Familial platelet syndrome with predisposition to acute myelogenous leukemia Familial polymorphous light eruption of American Indians Familial polyposis coli Familial polyposis coli due to monosomy 5q22.2 Familial porencephaly Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement Familial primary hypomagnesemia with normocalciuria and normocalcemia Familial primary localized cutaneous amyloidosis Familial primary pulmonary hypoplasia Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type Familial progressive cardiac conduction defect Familial progressive heart block Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation Familial progressive subcortical gliosis Familial progressive vestibulocochlear dysfunction Familial prostate cancer Familial pseudohyperkalemia Familial pseudohyperkalemia type 1 Familial pulmonary arterial hypertension Familial pure nonmedullary thyroid carcinoma Familial pyrimidinemia ORPHA number Disease name Familial reactive perforating collagenosis 46348 Familial rectal pain 69126 Familial recurrent arthritis Familial recurrent peripheral facial 2809 palsy 85450 Familial renal amyloidosis Familial renal amyloidosis due to 93560 Apolipoprotein AI variant Familial renal amyloidosis due to 238269 Apolipoprotein AII variant Familial renal amyloidosis due to 93562 fibrinogen A alpha-chain variant Familial renal amyloidosis due to 93561 lysozyme variant 69076 Familial renal glucosuria Familial retinal arterial 284247 macroaneurysm 231108 Familial rhabdoid tumor 254712 Familial Rosaï-Dorfman disease Familial scaphocephaly - radioulnar 171839 synostosis Familial scaphocephaly syndrome, 168624 McGillivray type 3135 Familial Scheuermann disease Familial Scheuermann juvenile 3135 kyphosis 254712 Familial SHML 51083 Familial short QT syndrome 166282 Familial sick sinus syndrome Familial sinus histiocytosis with →168569 massive lymphadenopathy 166282 Familial sinus node dysfunction 300345 Familial SLE 3135 Familial spinal osteochondrosis Familial spontaneous 2903 pneumothorax 3197 Familial startle disease Familial steroid-resistant nephrotic 280406 syndrome with sensorineural deafness Familial streblodactyly with amino1325 aciduria 2456 Familial supernumerary nipples 370034 Familial syringomyelia Familial systemic lupus 300345 erythematosus 91387 Familial TAAD 98819 Familial temporal epilepsy Familial thoracic aortic aneurysm 91387 and aortic dissection 71493 Familial thrombocythemia 71493 Familial thrombocytosis Familial thrombocytosis with 329319 transverse limb defect 79147 ORPHA number Disease name Familial thrombomodulin anomalies 93953 Familial thyroglossal duct cyst Familial thyroid 95716 dyshormonogenesis 53372 Familial trembling of the chin 93583 Familial TTP 306661 Familial tumoral calcinosis Familial vascular 36383 leukoencephalopathy 289365 Familial vesicoureteral reflux 637 Familial vestibular schwannoma 2604 Familial visceral myopathy 2808 Familial vocal cord dysfunction 289365 Familial VUR 170 Familial woolly hair syndrome 170 Familial wooly hair syndrome 404560 FAMM-PC syndrome 404560 FAMMM syndrome 84 Fanconi anemia 84 Fanconi pancytopenia Fanconi syndrome - ichthyosis →2697 dysmorphism 2088 Fanconi-Bickel disease 163654 Fantasy Island syndrome 733 FAP 261584 FAP due to monosomy 5q22.2 2792 Fara-Chlupackova syndrome 333 Farber disease 333 Farber lipogranulomatosis 99906 Farmer's lung disease 1915 FAS 3261 FAS deficiency 1915 FASD 164736 FASPS FASTKD2-related infantile 166105 mitochondrial encephalomyopathy 466 Fatal familial insomnia Fatal infantile 1561 cardioencephalomyopathy due to cytochrome c oxidase deficiency 1561 Fatal infantile COX deficiency Fatal infantile cytochrome C 1561 oxidase deficiency Fatal infantile encephalopathy with 166073 mitochondrial respiratory chain defects Fatal infantile encephalopathy with 166063 olivopontocerebellar hypoplasia Fatal infantile encephalopathy→370114 pulmonary hypertension syndrome Fatal infantile HCM due to 289527 mitochondrial complex I deficiency Fatal infantile hypertonic 280553 myofibrillar myopathy 3324 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 59 ORPHA number Disease name Fatal infantile hypertrophic 289527 cardiomyopathy due to 289527 289527 17 168566 289573 401869 401874 363424 391343 816 329308 2064 56965 405 405 404451 47045 47045 247868 98970 268961 268973 268980 268987 268994 269001 269008 272 86814 99654 3071 47045 324 324588 26106 412022 mitochondrial complex I deficiency Fatal infantile hypertrophic cardiomyopathy due to NADHcoenzyme Q reductase deficiency Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 Fatal multiple mitochondrial dysfunction syndrome Fatal multiple mitochondrial dysfunction syndrome type 1 Fatal multiple mitochondrial dysfunction syndrome type 2 Fatal multiple mitochondrial dysfunction syndrome type 3 Fatal post-viral neurodegenerative disorder Fatty acid alcohol oxidoreductase deficiency Fatty acid hydroxylase-associated neurodegeneration Faulk-Epstein-Jones syndrome Fazio-Londe disease FBH FBHH FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome FCAS FCAS1 FCAS2 FCD FCD type I FCD type Ia FCD type Ib FCD type Ic FCD type II FCD type IIa FCD type IIb FCMD FCMTE FCPD FCS syndrome FCU FD FDFM FDGC FDLAB syndrome ORPHA number Disease name Febrile infection-related epilepsy syndrome 98974 FECD →182050 Fechtner syndrome 79292 FED 247165 Feer disease 98969 Fehr corneal dystrophy Feigenbaum-Bergeron-Richardson 1192 syndrome 1305 Feingold syndrome 391641 Feingold syndrome type 1 391646 Feingold syndrome type 2 53693 Fellman disease 47612 Felty syndrome Female infertility due to zona 404466 pellucida defect Female pseudohermaphroditism 2973 anorectal anomalies Female pseudohermaphroditism 2975 skeletal anomalies Female restricted epilepsy with 101039 intellectual disability 1987 Femoral agenesis/hypoplasia Femoral agenesis/hypoplasia, 295067 bilateral Femoral agenesis/hypoplasia, 295065 unilateral 399329 Femoral head epiphysiolysis Femoral hypoplasia - unusual facies 1988 syndrome 1987 Femoral intercalary meromelia Femoral intercalary meromelia, 295067 bilateral Femoral intercalary meromelia, 295065 unilateral Femoral trochlear groove 1863 insufficiency 1988 Femoral-facial syndrome Femorotibiofibular intercalary 294977 transverse meromelia Femorotibiofibular intercalary 295091 transverse meromelia, bilateral Femorotibiofibular intercalary 295089 transverse meromelia, unilateral 2019 Femur-fibula-ulna complex 2019 Femur-fibula-ulna dysostosis 2019 Femur-fibula-ulna syndrome 60015 Fenestrae parietales symmetricae 85110 FENIB Fenton-Wilkinson-Toselano 1184 syndrome 45358 FEOM 391384 FEPS 65748 Ferguson-Smith disease 2180 Ferlini-Ragno-Calzolari syndrome 163703 ORPHA Disease name number 157846 Ferritin-related neurodegeneration 397922 Ferro-cerebro-cutaneous syndrome 139491 Ferroportin disease 40366 994 363409 1915 1915 1908 1041 853 1665 370076 1911 294 1912 97360 85212 1912 1041 1909 1910 1055 284362 1917 1918 295 3312 1913 1906 1906 291 1914 166068 95431 69063 163703 891 254492 398166 79133 398173 1807 398189 79133 398173 1807 Fetal acitretin/etretinate syndrome Fetal akinesia deformation sequence Fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal alcohol spectrum disorders Fetal alcohol syndrome Fetal aminopterin syndrome Fetal anasarca Fetal and neonatal alloimmune thrombocytopenia Fetal brain disruption sequence Fetal carbamazepine syndrome Fetal cocaine syndrome Fetal cytomegalovirus syndrome Fetal dihydantoin syndrome Fetal face syndrome Fetal Gaucher disease Fetal hydantoin syndrome Fetal hydrops Fetal indomethacin syndrome Fetal iodine syndrome Fetal left ventricular aneurysm Fetal lung interstitial tumor Fetal methylmercury syndrome Fetal minoxidil syndrome Fetal parvovirus syndrome Fetal thalidomide syndrome Fetal trimethadione syndrome Fetal valproate syndrome Fetal valproic acid syndrome Fetal varicella syndrome Fetal warfarin syndrome Fetal-onset olivopontocerebellar hypoplasia Feto-fetal transfusion syndrome Fetomaternal alloimmunization with antenatal glomerulopathies Fever-induced refractory epileptic encephalopathy in school-aged children FEVR FFA FFDD FFDD1 FFDD2 FFDD3 FFDD4 FFDD type I FFDD type II FFDD type III → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 60 ORPHA Disease name number 398189 FFDD type IV 98820 FFEVF 1988 FFS 2019 FFU complex ORPHA Disease name number 295081 Fibular hemimelia, unilateral 2854 93323 313855 FGFR2-related bent bone dysplasia 1305 FGLDS 295083 391641 FGLDS1 391646 FGLDS2 295081 403 404 251274 403 404 251274 254707 401920 405 93372 101049 101050 99763 99764 2196 31043 263479 397618 1988 251601 331 93562 99654 99654 2021 337 122 401920 401920 79105 84090 2030 63999 249 2639 1118 1757 93323 295083 FH1 FH2 FH3 FH-I FH-II FH-III FHC FHCC FHH FHH type 1 FHH type 2 FHH type 3 FHHA1 FHHA2 FHHNC with severe ocular involvement FHHNC without severe ocular involvement FHI FHONDA syndrome FHUFS Fibrillary astrocytoma Fibrin-stabilizing factor deficiency Fibrinogen A alpha-chain amyloidosis Fibrocalculous pancreatic diabetes Fibrocalculous pancreatopathy Fibrochondrogenesis Fibrodysplasia ossificans progressiva Fibrofolliculomas with trichodiscomas and acrochordons Fibrolamellar hepatocarcinoma Fibrolamellar hepatocellular carcinoma Fibromyxosarcoma Fibronectin glomerulopathy Fibrosarcoma Fibrosing mediastinitis Fibrous dysplasia of bone Fibular aplasia - complex brachydactyly Fibular aplasia - ectrodactyly Fibular dimelia - diplopodia Fibular hemimelia Fibular hemimelia, bilateral 2256 79306 29207 29207 2756 99879 3255 352712 352582 1272 369979 97232 209335 2036 839 609 399086 1825 314777 163703 141136 141013 141013 141013 79292 98919 840 2823 2824 2820 293812 3092 209886 217330 1968 79293 98970 409 Fibular hypoplasia or aplasia femoral bowing - oligodactyly Fibular longitudinal meromelia Fibular longitudinal meromelia, bilateral Fibular longitudinal meromelia, unilateral Fibulo-ulnar hypoplasia - renal anomalies FIC1 deficiency Fiessinger-Leroy disease Fiessinger-Leroy-Reiter syndrome Figuera syndrome FIHPT Filippi syndrome FILS syndrome FIME Fine-Lubinsky syndrome Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Fingerprint body myopathy Finkel disease Finlay-Marks syndrome Finnish congenital nephrosis Finnish tibial muscular dystrophy Finnish upper limb-onset distal myopathy Finucane-Kurtz-Scott syndrome FIPA FIRES First branchial arch syndrome First branchial cleft anomaly First branchial cleft cyst First branchial cleft fistula Fish-eye disease Fisher syndrome Fistulous vegetative verrucous hydradenoma Fitzsimmons-Guilbert syndrome Fitzsimmons-McLachlan-Gilbert syndrome Fitzsimmons-Walson-Mellor syndrome Fixed pigmented erythema Fixed subaortic stenosis FJHN type 1 FJHN type 2 Flat face - microstomia - ear anomaly FLD Fleck corneal dystrophy Flegel disease ORPHA Disease name number 284362 FLIT 2044 Floating-Harbor syndrome 83451 Florid cemento-osseous dysplasia 83451 2045 240871 99734 1685 2047 69063 342 276399 3000 319487 137675 2143 308013 83451 2092 352587 352587 398166 79133 398173 1807 398189 79133 79133 398173 1807 398189 398189 221083 48918 48918 2200 2200 370002 79093 2048 79097 113 Florid osseous dysplasia FLOTCH syndrome Flucloxacilline toxicity Fluctuating myotonia Fluke infection Flynn-Aird syndrome FMAIG FMF FMNG FMPP FNMTC Foamy myocardial transformation of infancy FOAR syndrome Focal acral hyperkeratosis Focal cemento-osseous dysplasia Focal dermal hypoplasia Focal epilepsy - intellectual disability - cerebro-cerebellar malformation Focal epilepsy - intellectual disability - dysarthria - ataxia Focal facial dermal dysplasia Focal facial dermal dysplasia 1, Brauer type Focal facial dermal dysplasia 2, Brauer-Setleis type Focal facial dermal dysplasia 3, Setleis type Focal facial dermal dysplasia 4 Focal facial dermal dysplasia type 1 Focal facial dermal dysplasia type I Focal facial dermal dysplasia type II Focal facial dermal dysplasia type III Focal facial dermal dysplasia type IV Focal facial preauricular dysplasia Focal myoclonus of face Focal myositis Focal nodular myositis Focal palmoplantar and gingival hyperkeratosis Focal palmoplantar and gingival keratoderma Focal palmoplantar keratoderma with joint keratoses Foix-Alajouanine syndrome Foix-Chavany-Marie syndrome Folinic acid-responsive seizures Follicular atrophoderma and basal cell carcinomas → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 61 ORPHA number 79459 300552 86902 69745 2112 525 545 300552 243 79100 178512 228371 3454 337 60015 366 141071 51208 51208 3238 3238 178333 178333 85162 3219 141037 141037 141037 2253 397618 221126 2795 1799 275777 71290 280628 353220 79084 2348 79083 280356 280356 Disease name Follicular atrophoderma-basal cell carcinoma Follicular cholangitis and pancreatitis Follicular dendritic cell sarcoma Follicular dyskeratoma Follicular hamartoma - alopecia cystic fibrosis Follicular lichen planus Follicular lymphoma Follicular pancreatocholangitis Follicular stimulating hormoneresistant ovaries Folliculitis ulerythematosa reticulate Folliculotropic mycosis fungoides Foodborne botulism Foot contractures-muscle atrophyoculomotor apraxia FOP Foramina parietalia permagna Forbes disease Foregut duplication cyst of the tongue Formiminoglutamic aciduria Formiminotransferase cyclodeaminase deficiency Forney syndrome Forney-Robinson-Pascoe syndrome Forsius-Eriksson syndrome Forsius-Eriksson type ocular albinism FOSMN syndrome Fountain syndrome Fourth branchial cleft anomaly Fourth branchial cleft cyst Fourth branchial cleft fistula Foveal hypoplasia - presenile cataract Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Fowler syndrome Fowler-Christmas-Chapple syndrome FOXP2-associated dysphasia FPAH FPD/AML syndrome FPHH FPLCA FPLD1 FPLD2 FPLD3 FPLD4 FPLD due to PLIN1 mutations ORPHA Disease name number 71290 FPS/AML syndrome 313808 FPSG 69126 FRA 908 93256 284247 861 2523 137834 100026 2108 79149 98970 2052 →2052 347 908 908 100973 100974 95 834 309324 2053 1147 2673 2723 2055 85335 99672 2487 1969 95 96 1931 254492 1791 1826 141168 228390 228390 306542 391474 275872 Fragile X syndrome Fragile X-associated tremor/ataxia syndrome FRAM Franceschetti-Klein syndrome Franek-Bocker-Kahlen syndrome Frank-Ter Haar syndrome Franklin disease François dyscephalic syndrome François syndrome François-Neetens speckled corneal dystrophy Fraser syndrome Fraser-like syndrome Frasier syndrome FraX syndrome FRAXA syndrome FRAXE intellectual disability FRAXF syndrome FRDA Free sialic acid storage disease Free sialic acid storage disease, infantile form Freeman-Sheldon syndrome Freeman-Sheldon syndrome variant Freire Maia-Pinheiro-Opitz syndrome Freire-Maia syndrome Frias syndrome Fried syndrome Fried's tooth and nail syndrome Fried-Goldberg-Mundel syndrome Friedman-Goodman syndrome Friedreich ataxia Friedreich-like ataxia Frontal encephalocele Frontal fibrosing alopecia Frontofacionasal dysplasia Frontometaphyseal dysplasia Frontonasal arteriovenous malformation Frontonasal dysplasia with alopecia and genital abnomality Frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontorhiny Frontotemporal dementia with amyotrophic lateral sclerosis ORPHA number 275872 293848 2141 2215 2056 348 2057 2429 1104 2059 94084 2497 2058 1305 391641 391646 269 243 269 51208 275872 275872 247790 247790 98974 263479 349 2854 2854 2060 551 272 35063 24 24 882 882 622 308380 2169 2170 91348 Disease name Frontotemporal dementia with motor neuron disease Frontotemporal dementia, right temporal atrophy variant Froster-Huch syndrome Froster-Iskenius-Waterson syndrome Fructokinase deficiency Fructose-1,6-bisphosphatase deficiency Frydman-Cohen-Karmon syndrome Fryns macrocephaly Fryns microphthalmia syndrome Fryns syndrome Fryns-Aftimos syndrome Fryns-Hofkens-Fabry syndrome Fryns-Smeets-Thiry syndrome FS FS1 FS2 FSH dystrophy FSH-RO FSHD FTCD deficiency FTD-ALS FTD-MND FTH1-associated iron overload FTH1-related iron overload Fuchs endothelial corneal dystrophy Fuchs heterochromic iridocyclitis Fucosidosis Fuhrmann syndrome Fuhrmann-Rieger-de Sousa syndrome Fukuda-Miyanomae-Nakata syndrome Fukuhara syndrome Fukuyama congenital muscular dystrophy Fulminant viral hepatitis Fumarase deficiency Fumaric aciduria Fumarylacetoacetase deficiency Fumarylacetoacetate hydrolase deficiency Functional methionine synthase deficiency Functional methionine synthase deficiency type cblDv1 Functional methionine synthase deficiency type cblE Functional methionine synthase deficiency type cblG Functioning gonadotropic adenoma → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 62 ORPHA number 91348 227796 827 99004 207000 →60030 2579 591 591 591 228119 228119 2287 2498 35909 908 93256 364 79258 79259 79259 79259 25 2066 79402 90041 487 79237 79237 309297 79238 79239 79239 79237 79238 351 487 75496 487 79238 79238 79237 79237 100086 2065 2065 309297 306661 79239 2325 Disease name Functioning pituitary gonadotropic adenoma Fundus albipunctatus Fundus flavimaculatus Fundus pulverulentus Fungal myositis Furlong syndrome Furukawa-Takagi-Nakao syndrome Furuncular myiasis Furunculoid myiasis Furunculous myiasis Fusariosis Fusarium infection Fused mandibular incisors Fusion of metacarpals 4 and 5 FV and FVIII combined deficiency FXS FXTAS syndrome G6P deficiency G6P deficiency type a G6P deficiency type b G6P translocase deficiency G6PT deficiency GA1 GABA transaminase deficiency GABEB Gaisböck syndrome Galactocerebrosidase deficiency Galactokinase deficiency Galactokinase deficiency galactosemia Galactosamine-6-sulfatase deficiency Galactose epimerase deficiency Galactose-1-phosphate uridyltransferase deficiency Galactosemia type 1 Galactosemia type 2 Galactosemia type 3 Galactosialidosis Galactosylceramidase deficiency Galactosyltransferase I deficiency GALC deficiency GALE deficiency GALE-D GALK deficiency GALK-D Gallbladder endocrine tumor Galloway syndrome Galloway-Mowat syndrome GALNS deficiency GALNT3-CDG GALT deficiency Gamborg-Nielsen syndrome ORPHA Disease name number 3035 Game-Friedman-Paradice syndrome 2066 212 33573 33574 100026 100026 353 682 682 382 251937 251949 251877 251992 2067 314022 3469 79665 324636 2075 99000 314022 418959 423781 141071 100075 332 36273 418959 913 2069 2930 2930 44890 44890 2368 355 2072 77259 77260 77261 2072 Gamma-aminobutyric acid transaminase deficiency Gamma-cystathionase deficiency Gamma-glutamyl transpeptidase deficiency Gamma-glutamylcysteine synthetase deficiency Gamma-HCD Gamma-heavy chain disease Gamma-sarcoglycanopathy Gamstorp disease Gamstorp episodic adynamy GAMT deficiency Gangliocytoma Ganglioglioma Ganglioneuroblastoma Ganglioneuroma GAPO syndrome GAPPS Garcia-Lurie syndrome Gardner syndrome Gardner-Diamond syndrome Gardner-Silengo-Wachtel syndrome Gass disease Gastric adenocarcinoma and proximal polyposis of the stomach Gastric carcinoid carcinoma Gastric carcinoma, salivary gland type Gastric duplication cyst of the tongue Gastric endocrine tumor Gastric intrinsic factor deficiency Gastric linitis plastica Gastric squamous cell carcinoma Gastrinoma Gastrocutaneous syndrome Gastrointestinal polyposis ectodermal changes Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes Gastrointestinal stromal sarcoma Gastrointestinal stromal tumor Gastroschisis Gaucher disease Gaucher disease - ophthalmoplegia - cardiovascular calcification Gaucher disease type 1 Gaucher disease type 2 Gaucher disease type 3 Gaucher disease type 3C ORPHA number 77261 2072 308712 308684 308698 308670 308655 308638 308621 360 98916 329984 98962 98963 25 98962 98963 528 228429 2095 380 79330 363976 98957 53697 366 324636 36387 411777 26790 98957 2623 2623 85448 2074 251604 2084 51608 79402 168632 Disease name Gaucher disease, subacute neuronopathic type Gaucher-like disease GBE deficiency, adult neuromuscular form GBE deficiency, childhood combined hepatic and myopathic form GBE deficiency, childhood neuromuscular form GBE deficiency, congenital neuromuscular form GBE deficiency, fatal perinatal neuromuscular form GBE deficiency, non progressive hepatic form GBE deficiency, progressive hepatic form GBM GBS, acute inflammatory demyelinating polyradiculoneuropathic form GCC GCD1 GCD2 GCDHD GCDI GCDII GCL GCL4 GCM syndrome GCPS GCS1-CDG GCT of bone GDCD GDD GDE deficiency GDS GEFS+ GEKA Gelatinous ascites Gelatinous drop-like corneal dystrophy Geleophysic dwarfism Geleophysic dysplasia Gelsolin amyloidosis Gemignani syndrome Gemistocytic astrocytoma GEMSS syndrome Generalized arterial calcification of infancy Generalized atrophic benign epidermolysis bullosa Generalized basaloid follicular hamartoma syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 63 ORPHA number 98806 528 228429 228429 263543 263548 263553 263558 231568 79399 79399 79137 36387 308487 157991 157991 411777 411777 280774 36236 1041 308487 308487 308487 33355 79402 329971 167635 89842 167635 263543 263548 263553 Disease name Generalized cervical and upperlimb-onset dystonia Generalized congenital lipodystrophy Generalized congenital lipodystrophy type 4 Generalized congenital lipodystrophy with myopathy Generalized deciduous skin Generalized deciduous skin type A Generalized deciduous skin type B Generalized deciduous skin type C Generalized dominant dystrophic epidermolysis bullosa Generalized EBS, non-DowlingMeara type Generalized epidermolysis bullosa simplex, non-Dowling-Meara type Generalized epilepsy - paroxysmal dyskinesia Generalized epilepsy with febrile seizures-plus Generalized epimerase deficiency galactosemia Generalized eruptive histiocytoma Generalized eruptive histiocytosis Generalized eruptive keratoacanthoma Generalized eruptive keratoacanthomas of Grzybowski Generalized essential telangiectasia Generalized exfoliative disease Generalized fetal edema Generalized galactose epimerase deficiency Generalized GALE deficiency Generalized GALE-D Generalized hematopoietic hypoplasia Generalized junctional epidermolysis bullosa, non-Herlitz type Generalized juvenile polyposis/juvenile polyposis coli Generalized lichenoid papular eruption Generalized mitis RDEB Generalized papular and sclerodermoid lichen myxedematosus Generalized peeling skin syndrome Generalized peeling skin syndrome type A Generalized peeling skin syndrome type B ORPHA number 263558 171876 263543 247353 3221 308487 308487 254704 99845 226316 2075 85201 2163 85197 93398 329813 1454 217008 98961 35686 79137 99095 2808 213837 213751 2077 91352 2078 1117 221117 356 99926 63275 280774 84090 314769 633 1802 1802 83450 180267 643 397 Disease name Generalized peeling skin syndrome type C Generalized pseudohypoaldosteronism type 1 Generalized PSS Generalized pustular psoriasis Generalized resistance to thyroid hormone Generalized UDP-galactose-4epimerase deficiency Generalized uridine diphosphate galactose-4-epimerase deficiency Genetic hyperferritinemia without iron overload Genetic recurrent myoglobinuria Genetic transient congenital hypothyroidism Genito-palato-cardiac syndrome Genitopatellar syndrome Genoa syndrome Genochondromatosis type 1 Genochondromatosis type 2 Genome-wide paternal uniparental disomy mosaicism Gentile syndrome Genuine diffuse phlebectasia Geographic corneal dystrophy Geographic helicoid peripapillary choroidopathy GEPD Gerbode defect Gerhardt syndrome Germ cell cancer of cervix uteri Germ cell cancer of corpus uteri German syndrome Germinoma of the central nervous system Geroderma osteodysplastica Gershoni-Baruch-Leibo syndrome Gerstmann syndrome Gerstmann-Straussler-Scheinker syndrome Gestational choriocarcinoma Gestational pemphigoid GET GFND GH and PRL cosecreting pituitary adenoma GH receptor deficiency Ghosal hematodiaphyseal dysplasia Ghosal syndrome Ghost teeth Giant adenofibroma of the breast Giant axonal neuropathy Giant cell arteritis ORPHA Disease name number 1190 Giant cell chondrodysplasia 251579 Giant cell glioblastoma 139436 Giant cell histiocytomatosis 363976 Giant cell tumor of bone 626 Giant congenital melanocytic nevus 2494 626 274 1065 2025 3473 2027 2026 2709 44890 97286 358 3268 849 666 1535 213833 2084 2085 238763 354 360 360 269197 251582 251576 73223 404476 2791 487 83454 2087 84090 391651 Giant hypertrophic gastritis Giant pigmented hairy nevus Giant platelet syndrome Gillespie syndrome Gingival fibromatosis - facial dysmorphism Gingival fibromatosis hepatosplenomegaly - other anomalies Gingival fibromatosis - progressive deafness Gingival fibromatosishypertrichosis syndrome Gingival hypertrophy - corneal dystrophy GIST GIST-paraganglioma dyad Gitelman syndrome Giuffré-Tsukahara syndrome Glanzmann thrombasthenia Glass bone disease Glass-Chapman-Hockley syndrome Glassy cell carcinoma of the cervix uteri Glaucoma - ectopia microspherophakia - stiff joints short stature Glaucoma - sleep apnea Glaucoma secondary to spherophakia/ectopia lentis and megalocornea GLB1 deficiency Glioblastoma Glioblastoma multiforme Glioependymal/ependymal cyst Gliomatosis cerebri Gliosarcoma Global developmental delay osteopenia - ectodermal defect Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome Globodontia Globoid cell leukodystrophy Glomangiomatosis Glomerulonephritis - sparse hair telangiectasis Glomerulopathy with fibronectin deposits Glomus tumor → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 64 ORPHA Disease name number 83454 Glomuvenous malformation 2616 Gloomy face syndrome 141163 Glossopalatine ankylosis 221098 Glossopharyngeal neuralgia 221098 Glossovasopharyngeal neuralgia 404476 GLOW syndrome 255132 GLRX5-related sideroblastic anemia 97280 97280 355 786 403 403 79272 71277 35710 79330 79320 79325 71277 71277 3006 51208 2195 33574 25 26791 35706 25 26791 35706 25 35706 25 32 289846 289849 33573 284414 284408 Glucagonoma Glucagonoma syndrome Glucocerebrosidase deficiency Glucocorticoid resistance Glucocorticoid sensitive hypertension Glucocorticoid-remediable aldosteronism Glucosamine N-acetyl-6-sulfatase deficiency Glucose transporter type 1 deficiency Glucose-galactose malabsorption Glucosidase 1 deficiency Glucosyltransferase 1 deficiency Glucosyltransferase 2 deficiency Glut1-DS Glut-1 deficiency Syndrome Glutamate decarboxylase deficiency Glutamate formiminotransferase deficiency Glutamate-aspartate transport defect Glutamate-cysteine ligase deficiency Glutaric acidemia type 1 Glutaric acidemia type 2 Glutaric acidemia type 3 Glutaric aciduria type 1 Glutaric aciduria type 2 Glutaric aciduria type 3 Glutaryl-CoA dehydrogenase deficiency Glutaryl-CoA oxidase deficiency Glutaryl-coenzyme A dehydrogenase deficiency Glutathione synthetase deficiency Glutathione synthetase deficiency with 5-oxoprolinuria Glutathione synthetase deficiency without 5-oxoprolinuria Glutathionuria Glycerol kinase deficiency, adult form Glycerol kinase deficiency, infantile form ORPHA number 284411 261476 255182 407 289891 365 308552 420429 57 364 79258 79259 364 79258 79259 2088 367 308712 308684 308698 308670 308655 Disease name Glycerol kinase deficiency, juvenile form Glycerol kinase deficiencycontiguous gene syndrome Glycine cleavage system L protein deficiency Glycine encephalopathy Glycine N-methyltransferase deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to G6P deficiency Glycogen storage disease due to G6P deficiency type a Glycogen storage disease due to G6P deficiency type b Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency type a Glycogen storage disease due to glucose-6-phosphatase deficiency type b Glycogen storage disease due to GLUT2 deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA number Disease name Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to 308621 glycogen branching enzyme deficiency, progressive hepatic form Glycogen storage disease due to 366 glycogen debranching enzyme deficiency Glycogen storage disease due to 263297 glycogenin deficiency Glycogen storage disease due to 2089 hepatic glycogen synthase deficiency Glycogen storage disease due to 2364 lactate dehydrogenase deficiency Glycogen storage disease due to 284435 lactate dehydrogenase H-subunit deficiency Glycogen storage disease due to 284426 lactate dehydrogenase M-subunit deficiency Glycogen storage disease due to 34587 LAMP-2 deficiency Glycogen storage disease due to 79240 liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to 369 liver glycogen phosphorylase deficiency Glycogen storage disease due to 2089 liver glycogen synthase deficiency Glycogen storage disease due to 264580 liver phosphorylase kinase deficiency Glycogen storage disease due to 137625 muscle and heart glycogen synthase deficiency Glycogen storage disease due to 99849 muscle beta-enolase deficiency Glycogen storage disease due to 368 muscle glycogen phosphorylase deficiency Glycogen storage disease due to 371 muscle phosphofructokinase deficiency Glycogen storage disease due to 715 muscle phosphorylase kinase deficiency Glycogen storage disease due to →319646 phosphoglucomutase deficiency Glycogen storage disease due to 713 phosphoglycerate kinase 1 deficiency Glycogen storage disease due to 97234 phosphoglycerate mutase deficiency 308638 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 65 ORPHA Disease name number 2089 Glycogen storage disease type 0a 137625 Glycogen storage disease type 0b 364 Glycogen storage disease type 1 79258 79259 →79259 →79259 365 308552 420429 366 367 308712 308684 308698 308670 308655 308638 308621 368 369 371 264580 79240 264580 715 715 284426 57 711 263297 264580 79240 264580 715 715 263297 365 308552 57 79258 Glycogen storage disease type 1a Glycogen storage disease type 1b Glycogen storage disease type 1C Glycogen storage disease type 1D Glycogen storage disease type 2 Glycogen storage disease type 2, infantile onset Glycogen storage disease type 2, late onset Glycogen storage disease type 3 Glycogen storage disease type 4 Glycogen storage disease type 4, adult neuromuscular form Glycogen storage disease type 4, childhood combined hepatic and myopathic form Glycogen storage disease type 4, childhood neuromuscular form Glycogen storage disease type 4, congenital neuromuscular form Glycogen storage disease type 4, fatal perinatal neuromuscular form Glycogen storage disease type 4, non progressive hepatic form Glycogen storage disease type 4, progressive hepatic form Glycogen storage disease type 5 Glycogen storage disease type 6B Glycogen storage disease type 7 Glycogen storage disease type 9A Glycogen storage disease type 9B Glycogen storage disease type 9C Glycogen storage disease type 9D Glycogen storage disease type 9E Glycogen storage disease type 11 Glycogen storage disease type 12 Glycogen storage disease type 14 Glycogen storage disease type 15 Glycogen storage disease type IXa Glycogen storage disease type IXb Glycogen storage disease type IXc Glycogen storage disease type IXd Glycogen storage disease type IXe Glycogen storage disease type XV Glycogenosis due to acid maltase deficiency Glycogenosis due to acid maltase deficiency, infantile onset Glycogenosis due to aldolase A deficiency Glycogenosis due to glucose-6phosphatase deficiency type a ORPHA number 79259 79259 2088 367 308712 308684 308698 308670 308655 308638 308621 366 263297 2364 284435 284426 34587 79240 369 264580 137625 99849 368 Disease name Glycogenosis due to glucose-6phosphatase deficiency type b Glycogenosis due to glucose-6phosphatase transport defect Glycogenosis due to GLUT2 deficiency Glycogenosis due to glycogen branching enzyme deficiency Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form Glycogenosis due to glycogen debranching enzyme deficiency Glycogenosis due to glycogenin deficiency Glycogenosis due to lactate dehydrogenase deficiency Glycogenosis due to lactate dehydrogenase H-subunit deficiency Glycogenosis due to lactate dehydrogenase M-subunit deficiency Glycogenosis due to LAMP-2 deficiency Glycogenosis due to liver and muscle phosphorylase kinase deficiency Glycogenosis due to liver glycogen phosphorylase deficiency Glycogenosis due to liver phosphorylase kinase deficiency Glycogenosis due to muscle and heart glycogen synthase deficiency Glycogenosis due to muscle betaenolase deficiency Glycogenosis due to muscle glycogen phosphorylase deficiency ORPHA number 371 715 711 713 97234 2089 137625 364 365 308552 420429 366 367 308712 308684 308698 308670 308655 308638 308621 368 369 371 264580 79240 264580 715 715 284426 57 99849 711 263297 79258 79259 264580 79240 264580 715 715 263297 Disease name Glycogenosis due to muscle phosphofructokinase deficiency Glycogenosis due to muscle phosphorylase kinase deficiency Glycogenosis due to phosphoglucomutase deficiency Glycogenosis due to phosphoglycerate kinase 1 deficiency Glycogenosis due to phosphoglycerate mutase deficiency Glycogenosis type 0a Glycogenosis type 0b Glycogenosis type 1 Glycogenosis type 2 Glycogenosis type 2, infantile onset Glycogenosis type 2, late onset Glycogenosis type 3 Glycogenosis type 4 Glycogenosis type 4, adult neuromuscular form Glycogenosis type 4, childhood combined hepatic and myopathic form Glycogenosis type 4, childhood neuromuscular form Glycogenosis type 4, congenital neuromuscular form Glycogenosis type 4, fatal perinatal neuromuscular form Glycogenosis type 4, non progressive hepatic form Glycogenosis type 4, progressive hepatic form Glycogenosis type 5 Glycogenosis type 6B Glycogenosis type 7 Glycogenosis type 9A Glycogenosis type 9B Glycogenosis type 9C Glycogenosis type 9D Glycogenosis type 9E Glycogenosis type 11 Glycogenosis type 12 Glycogenosis type 13 Glycogenosis type 14 Glycogenosis type 15 Glycogenosis type Ia Glycogenosis type Ib Glycogenosis type IXa Glycogenosis type IXb Glycogenosis type IXc Glycogenosis type IXd Glycogenosis type IXe Glycogenosis type XV → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 66 ORPHA Disease name number 93598 Glycolic aciduria 354 GM1 gangliosidosis 79255 GM1 gangliosidosis type 1 79256 79257 796 309246 309192 309178 309185 845 309239 101006 626 2090 53697 602 79272 329984 329984 329984 329984 705 373 351 66629 166272 166272 3026 2261 374 53540 3032 1791 1986 2092 2092 1770 432 759 562 2090 1482 3034 169105 1321 GM1 gangliosidosis type 2 GM1 gangliosidosis type 3 GM2 gangliosidosis 0 variant GM2 gangliosidosis, AB variant GM2 gangliosidosis, B variant, adult form GM2 gangliosidosis, B variant, infantile form GM2 gangliosidosis, B variant, juvenile form GM2 gangliosidosis, B, B1 variant GM2 gangliosidosis, B1 variant GM2 synthase deficiency GMN GMS syndrome Gnathodiaphyseal dysplasia GNE myopathy GNS deficiency Goblet cell adenocarcinoid Goblet cell carcinoid Goblet cell carcinoma Goblet cell tumor Goiter - deafness Golabi-Rosen syndrome Goldberg syndrome Goldberg-Shprintzen megacolon syndrome Goldblatt chondrodysplasia Goldblatt syndrome Goldblatt-Viljoen syndrome Goldblatt-Wallis syndrome Goldenhar syndrome Goldmann-Favre syndrome Goldston syndrome Gollop syndrome Gollop-Wolfgang complex Goltz syndrome Goltz-Gorlin syndrome Gonadal dysgenesis, XY type associated anomalies Gonadotropic deficiency Gonadotropin-dependant precocious puberty Gonadotropin-independent femalelimited sexual precocity Goniodysgenesis - intellectual disability - short stature Gonococcal conjunctivitis Gonzales-del Angel syndrome Good syndrome Goodman camptodactyly ORPHA Disease name number 65798 Goodman syndrome 375 Goodpasture syndrome 75389 Goossens-Devriendt syndrome 757 376 1173 73 73 73 377 2095 66629 2500 59135 900 280586 247353 721 313808 403 2763 53693 39812 505 505 2111 52055 3421 79094 79094 2097 98962 98963 98962 98963 98961 98963 86850 900 183 64722 33111 99915 99915 69665 721 293375 276405 99826 1426 Gordon hyperkalemia-hypertension syndrome Gordon syndrome Gordon-Holmes syndrome Gorham disease Gorham syndrome Gorham-Stout disease Gorlin syndrome Gorlin-Chaudhry-Moss syndrome GOSHS Gottron syndrome Gowers disease GPA gPAPP deficiency GPP GPS GPSC GRA Gracile bone dysplasia GRACILE syndrome Graft versus host disease Graham Little syndrome Graham Little-Piccardi-Lassueur syndrome Graham-Boyle-Troxell syndrome Graham-Cox syndrome Grand-Kaine-Fulling syndrome Grange occlusive arterial syndrome Grange syndrome Grant syndrome Granular corneal dystrophy type 1 Granular corneal dystrophy type 2 Granular corneal dystrophy type I Granular corneal dystrophy type II Granular corneal dystrophy type III Granular-lattice corneal dystrophy Granulocytic sarcoma Granulomatosis with polyangiitis Granulomatous allergic angiitis Granulomatous mastitis Granulomatous slack skin Granulosa cell cancer Granulosa cell malignant tumor Gravidic intrahepatic cholestasis Gray platelet syndrome Grayson-Wilbrandt corneal dystrophy Green jaundice Green monkey disease Greenberg dysplasia ORPHA number Disease name Greig cephalopolysyndactyly syndrome 495 Greither disease 97261 GRF tumor 97261 GRFoma 139474 Grisart-Destrée syndrome 381 Griscelli disease 79476 Griscelli disease type 1 79477 Griscelli disease type 2 79478 Griscelli disease type 3 381 Griscelli-Pruniéras syndrome 79476 Griscelli-Pruniéras syndrome type 1 79477 Griscelli-Pruniéras syndrome type 2 79478 Griscelli-Pruniéras syndrome type 3 Grix-Blankenship-Peterson 2099 syndrome 3217 Groll-Hirschowitz syndrome Gronblad-Strandberg-Touraine 758 syndrome 314613 Growing teratoma syndrome Growth and developmental delay391348 hypotonia-vision impairment-lactic acidosis syndrome Growth deficiency - brachydactyly →264200 dysmorphism Growth delay - alopecia 2067 pseudoanodontia - optic atrophy Growth delay - aminoaciduria 53693 cholestasis - iron overload - lactic acidosis - early death Growth delay - deafness73272 intellectual disability Growth delay - hydrocephaly - lung 3035 hypoplasia Growth delay - intellectual disability - mandibulofacial 79113 dysostosis - microcephaly - cleft palate Growth delay due to insulin-like 73273 growth factor I resistance Growth delay due to insulin-like 73272 growth factor type 1 deficiency Growth hormone and prolactin 314769 cosecreting pituitary adenoma Growth hormone receptor 633 deficiency Growth hormone releasing factor 97261 tumor Growth restriction - aminoaciduria 53693 cholestasis - iron overload - lactic acidosis - early death Growth retardation-mild 391366 developmental delay-chronic hepatitis syndrome Grubben-de Cock-Borghgraef 2101 syndrome 380 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 67 ORPHA Disease name number 411777 Grzybowski syndrome 35858 Gräsbeck-Imerslund disease 365 GSD due to acid maltase deficiency 308552 420429 57 364 79258 79259 79259 2088 367 308712 308684 308698 308670 308655 308638 308621 366 263297 2089 2364 284435 284426 34587 79240 369 264580 GSD due to acid maltase deficiency, infantile onset GSD due to acid maltase deficiency, late onset GSD due to aldolase A deficiency GSD due to G6P deficiency GSD due to G6P deficiency type a GSD due to G6P deficiency type b GSD due to G6PT deficiency GSD due to GLUT2 deficiency GSD due to glycogen branching enzyme deficiency GSD due to glycogen branching enzyme deficiency, adult neuromuscular form GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form GSD due to glycogen branching enzyme deficiency, non progressive hepatic form GSD due to glycogen branching enzyme deficiency, progressive hepatic form GSD due to glycogen debranching enzyme deficiency GSD due to glycogenin deficiency GSD due to hepatic glycogen synthase deficiency GSD due to lactate dehydrogenase deficiency GSD due to lactate dehydrogenase H-subunit deficiency GSD due to lactate dehydrogenase M-subunit deficiency GSD due to LAMP-2 deficiency GSD due to liver and muscle phosphorylase kinase deficiency GSD due to liver glycogen phosphorylase deficiency GSD due to liver phosphorylase kinase deficiency ORPHA number 137625 99849 368 371 715 711 713 97234 2089 137625 364 79259 79258 79259 365 308552 420429 366 367 308712 308684 308698 308670 308655 308638 308621 368 369 371 264580 79240 264580 715 715 97234 284426 57 711 263297 264580 Disease name GSD due to muscle and heart glycogen synthase deficiency GSD due to muscle beta-enolase deficiency GSD due to muscle glycogen phosphorylase deficiency GSD due to muscle phosphofructokinase deficiency GSD due to muscle phosphorylase kinase deficiency GSD due to phosphoglucomutase deficiency GSD due to phosphoglycerate kinase 1 deficiency GSD due to phosphoglycerate mutase deficiency GSD type 0a GSD type 0b GSD type 1 GSD type 1 non a GSD type 1a GSD type 1b GSD type 2 GSD type 2, infantile onset GSD type 2, late onset GSD type 3 GSD type 4 GSD type 4, adult neuromuscular form GSD type 4, childhood combined hepatic and myopathic form GSD type 4, childhood neuromuscular form GSD type 4, congenital neuromuscular form GSD type 4, fatal perinatal neuromuscular form GSD type 4, non progressive hepatic form GSD type 4, progressive hepatic form GSD type 5 GSD type 6B GSD type 7 GSD type 9A GSD type 9B GSD type 9C GSD type 9D GSD type 9E GSD type 10 GSD type 11 GSD type 12 GSD type 14 GSD type 15 GSD type IXa ORPHA Disease name number 79240 GSD type IXb 264580 GSD type IXc 715 GSD type IXd 715 GSD type IXe 263297 GSD type XV 79258 GSDIa 79259 366 308712 308684 308698 308670 308655 308638 308621 99849 711 2102 98808 98808 2102 90020 319234 382 2785 98916 231 1562 1858 324561 2957 1661 2104 39812 293375 99914 414 2073 1532 79277 GSDIb GSDIII GSDIV, adult neuromuscular form GSDIV, childhood combined hepatic and myopathic form GSDIV, childhood neuromuscular form GSDIV, congenital neuromuscular form GSDIV, fatal perinatal neuromuscular form GSDIV, non progressive hepatic form GSDIV, progressive hepatic form GSDXIII GSDXIV GTP cyclohydrolase I deficiency GTPCH1-deficient dopa-responsive dystonia GTPCH1-deficient DRD GTPCH deficiency Guam disease Guanarito hemorrhagic fever Guanidinoacetate methyltransferase deficiency Guibaud-Vainsel syndrome Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form Guinea worm disease Gunal-Seber-Basaran syndrome Gurrieri-Sammito-Bellussi syndrome Guttate hypopigmentation and punctate palmoplantar keratoderma Guttmacher syndrome Guízar Vázquez-Luengas-Muñoz syndrome Guízar Vázquez-Sánchez-Manzano syndrome GVH GWCD Gynandroblastoma Gyrate atrophy of choroid and retina Gélineau disease Gómez-López-Hernández syndrome Günther disease → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 68 ORPHA Disease name number 168569 H syndrome 139441 H-ABC 2396 Haberland syndrome 99803 71212 217026 91378 100051 100054 100050 100051 100054 966 79263 2841 2342 1408 69084 58017 300878 2220 3387 955 2157 2985 2521 1809 185 138 2107 2108 2109 2109 157850 2110 3453 289326 314555 2926 1217 2869 93946 79126 73229 1927 2438 2438 99873 Haddad syndrome HADH deficiency Hadziselimovic syndrome HAE HAE 2 HAE 3 HAE-I HAE-II HAE-III HAFF Hagberg-Santavuori disease Hailey-Hailey disease Haim-Munk syndrome Hair defect - photosensitivity intellectual disability Hair-nail ectodermal dysplasia Hairy cell leukemia Hairy cell leukemia variant Hairy elbows Hairy throat syndrome Hajdu-Cheney syndrome HAL deficiency Hal-Berg-Rudolph syndrome Halal syndrome Halal-Setton-Wang syndrome Halasz syndrome Hall-Hittner syndrome Hall-Riggs syndrome Hallermann-Streiff syndrome Hallermann-Streiff-François syndrome, severe form Hallermann-Streiff-like syndrome Hallervorden-Spatz syndrome Hallux varus - preaxial polysyndactyly HAM syndrome HAM/TSP Hamamy syndrome Hamanishi-Ueba-Tsuji syndrome Hamano-Tsukamoto syndrome Hamartomatous intestinal polyposis Hamel cerebro-palato-cardiac syndrome Hamman-Rich syndrome HANAC syndrome Hand and foot deformity - flat facies Hand-foot-genital syndrome Hand-foot-uterus syndrome Hand-Schüller-Christian disease ORPHA Disease name number 989 Hanhart syndrome 186 Hanot syndrome 340 Hantavirosis 340 Hantavirus fever 319247 Hantavirus pulmonary syndrome 3294 Hapnes-Boman-Skeie syndrome Harboyan syndrome 899 HARD syndrome 2812 Hard-skin syndrome, Parana type 85182 Hardcastle syndrome 1415 Hardikar syndrome 1177 Harding ataxia 457 Harlequin ichthyosis 199282 Harlequin syndrome →216866 HARP syndrome 2115 Harrod syndrome 2116 Hartnup disease 2116 Hartnup disorder 2117 Hartsfield-Bixler-Demyer syndrome 84085 HAS 83601 Hashimoto encephalitis 99872 Hashimoto-Pritzker syndrome Haspeslagh-Fryns-Muelenaere 2994 syndrome 3325 HAT 2118 Hawkinsinuria 1071 Hay-Wells syndrome 163596 Hb Bart's hydrops fetalis 231242 HbC - beta-thalassemia 231249 HbE - beta-thalassemia 93616 HbH disease 352657 HBID 330032 HbLepore - beta-thalassemia 251359 HbS - beta-thalassemia 251365 HbSC disease 251370 HbSD disease 251375 HbSE disease 363412 HBSL 88673 HCC 86864 HCD 93556 HCDD 85458 HCHWA 324723 HCHWA, Arctic type 100006 HCHWA, Dutch type 324718 HCHWA, Flemish type 100008 HCHWA, Icelandic type 324708 HCHWA, Iowa type 324713 HCHWA, Italian type 324703 HCHWA, Piedmont type 100006 HCHWA-D 58017 HCL 300878 HCL-v 163690 HCS 306741 HD-HA syndrome 1490 ORPHA number 26106 HDGC 157941 HDL1 98934 HDL2 Disease name 157946 HDL3 98759 HDL4 313808 HDLS 2237 HDR syndrome 67037 254898 3225 1355 1338 1354 875 392 1350 1342 168796 1342 1342 93556 86864 2119 3377 3377 2492 238468 98813 2787 3220 99932 178330 86813 168782 252054 2330 90053 2128 86908 2128 306741 1241 141145 Head and neck squamous cell carcinoma Hearing loss - encephaloneuropathy - obesity - valvulopathy Hearing loss - familial salivary gland insensitivity to aldosterone Heart defect - round face congenital developmental delay Heart defect-tongue hamartomapolysyndactyly syndrome Heart defects - limb shortening Heart tumor of the child Heart-hand syndrome type 1 Heart-hand syndrome type 2 Heart-hand syndrome type 3 Heart-hand syndrome, Slovenian type Heart-hand syndrome, Spanish type Heart-limb syndrome type 3 Heavy chain deposition disease Heavy chain disease HEC syndrome Hecht syndrome Hecht-Beals syndrome Hecht-Scott syndrome HED HED-ID Heide syndrome Heimler syndrome Heiner syndrome Heinz body anemia Helicoid peripapillary chorioretinal degeneration Heller syndrome Hemangioblastoma Hemangioma-thrombocytopenia syndrome Hematopoietic stem cell transplantation Hemi 3 syndrome Hemiconvulsion-hemiplegiaepilepsy syndrome Hemicorporal hypertrophy Hemidystonia-hemiatrophy syndrome Hemifacial hyperplasia - strabismus Hemifacial hypertrophy → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 69 ORPHA Disease name number 141136 Hemifacial microsomia 2549 141148 276280 2128 99802 306669 99050 139491 79230 225123 139491 163596 231242 2132 90039 231249 2133 93616 330032 330041 280615 86817 714 99138 712 90030 248305 35120 766 275944 90038 2134 Hemifacial microsomia - radial defects Hemifacial myohyperplasia Hemihyperplasia-multiple lipomatosis syndrome Hemihypertrophy Hemimegalencephaly Hemiparkinsonism-hemiatrophy syndrome Hemitruncus arteriosus Hemochromatosis due to defect in ferroportin Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Hemoglobin Bart's hydrops fetalis Hemoglobin C - beta-thalassemia Hemoglobin C disease Hemoglobin D disease Hemoglobin E - beta-thalassemia Hemoglobin E disease Hemoglobin H disease Hemoglobin Lepore - betathalassemia Hemoglobin M disease Hemoglobinopathy Toms River Hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia due to diphosphoglycerate mutase deficiency Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hemolytic anemia due to glucophosphate isomerase deficiency Hemolytic anemia due to glutathione reductase deficiency Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hemolytic anemia due to red cell pyruvate kinase deficiency Hemolytic disease of the newborn with Kell alloimmunization Hemolytic-uremic syndrome with diarrhea Hemolytic-uremic syndrome without diarrhea ORPHA number Disease name Hemolytic-uremic syndrome 93581 without diarrhea with anti-factor H 93578 93575 357008 93579 93580 93576 217023 158048 98878 98879 329 178396 340 274 324632 2136 2135 761 95159 79269 79271 3325 3325 3325 102069 156 156 386 2031 antibodies Hemolytic-uremic syndrome without diarrhea with B factor anomaly Hemolytic-uremic syndrome without diarrhea with C3 anomaly Hemolytic-uremic syndrome without diarrhea with DGKE deficiency Hemolytic-uremic syndrome without diarrhea with H factor anomaly Hemolytic-uremic syndrome without diarrhea with I factor anomaly Hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly Hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly Hemophagocytic syndrome associated with an infection Hemophilia A Hemophilia B Hemophilia C Hemorrhagic disease due to alpha1-antitrypsin Pittsburgh mutation Hemorrhagic fever - renal syndrome Hemorrhagiparous thrombocytic dystrophy Hendra virus infection Hennekam syndrome Hennekam-Beemer syndrome Henoch-Schönlein purpura HEP Heparan sulfamidase deficiency Heparan-alpha-glucosaminide Nacetyltransferase deficiency Heparin-associated thrombocytopenia Heparin-induced thrombocytopenia Heparin-induced thrombocytopenia type 2 Hepatic amyloidosis with intrahepatic cholestasis Hepatic carnitine palmitoyl transferase 1 deficiency Hepatic carnitine palmitoyl transferase I deficiency Hepatic cystic hamartoma Hepatic fibrosis - renal cysts intellectual disability ORPHA number 369 369 890 79124 90073 402823 449 54272 88673 137681 137681 95159 905 64743 364 882 86882 306539 2907 85450 93560 238269 93562 93561 85448 228277 91378 100050 100051 100054 91378 100050 100051 100054 73229 Disease name Hepatic glycogen phosphorylase deficiency Hepatic phosphorylase deficiency Hepatic veno-occlusive disease Hepatic veno-occlusive disease immunodeficiency Hepatitis B reinfection following liver transplantation Hepatitis delta Hepatoblastoma Hepatocellular adenoma Hepatocellular carcinoma Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 Hepatoencephalopathy due to COXPD1 Hepatoerythropoietic porphyria Hepatolenticular degeneration Hepatoportal sclerosis Hepatorenal glycogenosis Hepatorenal tyrosinemia Hepatosplenic T-cell lymphoma Hereditary acrokeratotic poikiloderma of Kindler-Weary Hereditary acrokeratotic poikiloderma, Weary type Hereditary amyloid nephropathy Hereditary amyloid nephropathy due to apolipoprotein AI variant Hereditary amyloid nephropathy due to Apolipoprotein AII variant Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant Hereditary amyloid nephropathy due to lysozyme variant Hereditary amyloidosis, Finnish type Hereditary anetoderma Hereditary angioedema Hereditary angioedema type 1 Hereditary angioedema type 2 Hereditary angioedema type 3 Hereditary angioneurotic edema Hereditary angioneurotic edema type 1 Hereditary angioneurotic edema type 2 Hereditary angioneurotic edema type 3 Hereditary angiopathynephropathy-aneurysms-muscle cramps syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 70 ORPHA number 3115 289601 1416 1429 352657 352657 91378 221061 221061 145 227535 227535 871 36382 1416 1416 30925 30925 221061 221061 85458 324723 100006 324718 100008 324708 324713 324703 48818 36382 53372 53372 676 422526 Disease name Hereditary areflexic dystasia, Roussy-Lévy type Hereditary arterial and articular multiple calcification syndrome Hereditary articular chondrocalcinosis Hereditary benign chorea Hereditary benign corneal intraepithelial dyskeratosis Hereditary benign intraepithelial dyskeratosis Hereditary bradykinine-induced angioedema Hereditary brain cavernous angioma Hereditary brain cavernous hemangioma Hereditary breast and ovarian cancer syndrome Hereditary breast cancer Hereditary breast carcinoma Hereditary bundle branch defect Hereditary CAD Hereditary calcium pyrophosphate deposition Hereditary CC Hereditary CDI Hereditary central diabetes insipidus Hereditary cerebral cavernoma Hereditary cerebral cavernous malformation Hereditary cerebral hemorrhage with amyloidosis Hereditary cerebral hemorrhage with amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Icelandic type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Hereditary ceruloplasmin deficiency Hereditary cervical artery dissections Hereditary chin myoclonus Hereditary chin-trembling Hereditary chronic pancreatitis Hereditary clear cell renal cell adenocarcinoma ORPHA number 422526 293144 238578 293150 98434 98434 238722 238722 972 79273 60015 168577 398088 168577 98967 100008 26106 26106 26106 313808 313808 63261 98873 36899 85195 157846 90045 469 469 469 53372 Disease name Hereditary clear cell renal cell carcinoma Hereditary clubfoot due to 5q31 microdeletion Hereditary clubfoot due to 17q23.1q23.2 microduplication Hereditary clubfoot due to PITX1 point mutation Hereditary combined deficiency of factors II, VII, IX and X Hereditary combined deficiency of vitamin K-dependent clotting factors Hereditary congenital controlateral synkinesia Hereditary congenital mirror movements Hereditary continuous muscle fiber activity Hereditary coproporphyria Hereditary cranium bifidum Hereditary cryohydrocytosis type 2 Hereditary cryohydrocytosis with normal stomatin Hereditary cryohydrocytosis with reduced stomatin Hereditary crystalline stromal dystrophy of Schnyder Hereditary cystatin C amyloid angiopathy Hereditary diffuse cancer of stomach Hereditary diffuse gastric adenocarcinoma Hereditary diffuse gastric cancer Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hereditary diffuse leukoencephalopathy with spheroids Hereditary endotheliopathy retinopathy - nephropathy - stroke Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) Hereditary essential myoclonus Hereditary expansile polyostotic osteolytic dysplasia Hereditary ferritinopathy Hereditary folate malabsorption Hereditary fructose intolerance Hereditary fructose-1-phosphate aldolase deficiency Hereditary fructosemia Hereditary geniospasm ORPHA Disease name number 2024 Hereditary gingival fibromatosis 2024 Hereditary gingival hyperplasia 774 2604 199285 238475 3197 3197 163 163 2801 157215 55654 90368 217407 79091 602 79091 324381 178464 300373 397692 332 2334 493 411602 523 523 523 79452 90186 228277 621 330041 Hereditary hemorrhagic telangiectasia Hereditary hollow visceral myopathy Hereditary hypercarotenemia and vitamin A deficiency Hereditary hypercholanemia Hereditary hyperekplexia Hereditary hyperexplexia Hereditary hyperferritinemia with congenital cataracts Hereditary hyperferritinemiacataract syndrome Hereditary hyperphosphatasia Hereditary hypophosphatemic rickets with hypercalciuria Hereditary hypotrichosis simplex Hereditary hypotrichosis simplex of the scalp Hereditary hypotrichosis with recurrent skin vesicles Hereditary inclusion body myopathy - joint contractures ophthalmoplegia Hereditary inclusion body myopathy type 2 Hereditary inclusion body myopathy type 3 Hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy with early respiratory failure Hereditary infantile gigantism Hereditary isolated aplastic anemia Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency Hereditary keratitis Hereditary keratoacanthoma Hereditary late-onset Parkinson disease Hereditary leiomyomatosis Hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis with renal carcinoma Hereditary lymphedema type I Hereditary lymphedema type II Hereditary macular atrophy Hereditary methemoglobinemia Hereditary methemoglobinemia due to hemoglobin mutation → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 71 ORPHA number 157794 64748 773 64751 90120 90119 90103 99950 90117 90117 99953 1839 171723 136 523 83454 2590 43115 1062 30925 640 279943 91378 168583 56 30 98868 79141 86923 86923 Disease name Hereditary mixed polyposis syndrome Hereditary motor and sensory neuropathy type 3 Hereditary motor and sensory neuropathy type 4 Hereditary motor and sensory neuropathy type 5 Hereditary motor and sensory neuropathy type 6 Hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers Hereditary motor and sensory neuropathy, Lom type Hereditary motor and sensory neuropathy, Okinawa type Hereditary motor and sensory neuropathy, proximal type Hereditary motor and sensory neuropathy, Russe Type Hereditary mucoepithelial dysplasia Hereditary mucosal leukokeratosis Hereditary multi-infarct dementia Hereditary multiple cutaneous leiomyomas Hereditary multiple glomangiomas Hereditary myoclonus - progressive distal muscular atrophy Hereditary myopathy with lactic acidosis due to ISCU deficiency Hereditary neurocutaneous angioma Hereditary neurogenic diabetes insipidus Hereditary neuropathy with liability to pressure palsies Hereditary neutrophilia Hereditary non histamine-induced angioedema Hereditary North American Indian childhood cirrhosis Hereditary ochronosis Hereditary orotic aciduria Hereditary ovalocytosis Hereditary painful callosities Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Hereditary palmoplantar keratoderma, Gamborg-Nielsen type ORPHA number 47044 99878 168615 46532 251380 29072 300373 330061 178345 828 98808 158025 178464 275777 →288 85450 93560 238269 93562 93561 94088 788 357027 221043 221039 280598 36386 139564 139564 Disease name Hereditary papillary renal cell carcinoma Hereditary parathyroids hyperplasia Hereditary persistence of alphafetoprotein Hereditary persistence of fetal hemoglobin - beta-thalassemia Hereditary persistence of fetal hemoglobin - sickle cell disease Hereditary pheochromocytomaparaganglioma Hereditary pituitary hyperplasia Hereditary polymorphous light eruption of American Indians Hereditary prepubertal gynecomastia Hereditary progressive arthroophthalmopathy Hereditary progressive dystonia with marked diurnal fluctuation Hereditary progressive mucinous histiocytosis Hereditary proximal myopathy with early respiratory failure Hereditary pulmonary arterial hypertension Hereditary pyropoikilocytosis Hereditary renal amyloidosis Hereditary renal amyloidosis due to apolipoprotein AI variant Hereditary renal amyloidosis due to apolipoprotein AII variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to lysozyme variant Hereditary renal hypouricemia Hereditary resistance to antivitamin K Hereditary retinoblastoma Hereditary sclerosing poikiloderma with tendon and pulmonary involvement Hereditary sclerosing poikiloderma, Weary type Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy type 1 Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux Hereditary sensory and autonomic neuropathy type 1B ORPHA number 970 1764 642 64752 314381 391397 139573 391397 139578 213524 100996 822 84093 71493 268322 329319 82 82 217467 217467 745 743 745 205 79234 79235 71291 Disease name Hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy type 3 Hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy with deafness and global delay Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction Hereditary sensory and autonomic neuropathy with spastic paraplegia Hereditary site-specific ovarian cancer syndrome Hereditary spastic paraparesis type 15 Hereditary spherocytosis Hereditary thermosensitive neuropathy Hereditary thrombocythemia Hereditary thrombocytopenia with normal platelets Hereditary thrombocytosis with transverse limb defect Hereditary thrombophilia due to congenital antithrombin 3 deficiency Hereditary thrombophilia due to congenital antithrombin deficiency Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Hereditary thrombophilia due to congenital HRG deficiency Hereditary thrombophilia due to congenital protein C deficiency Hereditary thrombophilia due to congenital protein S deficiency Hereditary thrombophilia due to PC deficiency Hereditary unconjugated hyperbilirubinemia Hereditary unconjugated hyperbilirubinemia type 1 Hereditary unconjugated hyperbilirubinemia type 2 Hereditary vascular retinopathy → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 72 ORPHA number 71291 93160 903 98805 170 170 3467 3202 773 275777 3411 79430 183678 231531 231537 280663 183678 231500 231512 63261 2139 2786 1930 1930 293 1930 208524 369 1486 168956 314970 314950 314950 314962 640 3450 3450 845 309192 Disease name Hereditary vascular retinopathy Raynaud phenomenon - migraine Hereditary vitamin D-resistant rickets Hereditary von Willebrand disease Hereditary whispering dysphonia Hereditary woolly hair syndrome Hereditary wooly hair syndrome Hereditary xanthinuria Hereditary xerocytosis Heredopathia atactica polyneuritiformis Heritable pulmonary arterial hypertension Herlyn-Werner syndrome Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome type 2 Hermansky-Pudlak syndrome type 7 Hermansky-Pudlak syndrome type 8 Hermansky-Pudlak syndrome type 9 Hermansky-Pudlak syndrome with neutropenia Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis HERNS syndrome Hernández-Aguirre Negrete syndrome Hernández-Fragoso syndrome Herpes simplex encephalitis Herpes simplex neuroinvasion Herpes virus antenatal infection Herpetic encephalitis Herpetiform pemphigus Hers disease Herva disease HES HES-L HES-M HES-N HES-R Heterozygous microdeletion 17p11.2p12 Heterozygous OSMED Heterozygous otospondylomegaepiphyseal dysplasia Hexosaminidase A deficiency Hexosaminidase A deficiency, adult form ORPHA number 309239 309178 309185 309246 796 309169 309155 309162 1041 2438 2744 740 79271 163 86908 415 276280 157215 774 457 435 35878 88639 602 79091 324381 178464 189 1808 1809 343 137577 330012 171201 314029 314029 363396 3181 231080 251646 101088 101089 Disease name Hexosaminidase A deficiency, B1 variant Hexosaminidase A deficiency, infantile form Hexosaminidase A deficiency, juvenile form Hexosaminidase activator deficiency Hexosaminidases A and B deficiency Hexosaminidases A and B deficiency, adult form Hexosaminidases A and B deficiency, infantile form Hexosaminidases A and B deficiency, juvenile form HF HFGS HGPPS HGPS HGSNAT deficiency HHCS HHE syndrome HHH syndrome HHML HHRH HHT HI HI syndrome HI/HA syndrome HIBCH deficiency HIBM2 HIBM3 HIBM4 HIBM-ERF Hidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, Halal type HIDS HIE High altitude pulmonary edema High anorectal malformation High bone mass OI High bone mass osteogenesis imperfecta High myopia-sensorineural deafness syndrome High scapula High-grade dysplasia in patients with Barrett esophagus High-grade ependymoma HIGM1 HIGM2 ORPHA number 101090 HIGM3 101091 HIGM4 101092 HIGM5 183663 183666 99978 99978 84085 84085 1164 3408 2114 411593 65684 388 2155 2151 2152 2153 2150 261537 261552 261537 261537 2026 2156 3283 2157 2157 2157 2157 2157 2158 50918 86896 137675 Disease name HIGM with susceptibility to opportunistic infections HIGM without susceptibility to opportunistic infections Hilar CCA Hilar cholangiocarcinoma Hinman syndrome Hinman-Allen syndrome Hinson-Pepys disease Hip dysplasia - enchondromata ecchondroma Hip dysplasia, Beukes type Hirata disease Hirayama disease Hirschsprung disease Hirschsprung disease - deafness polydactyly Hirschsprung disease ganglioneuroblastoma Hirschsprung disease - intellectual disability Hirschsprung disease - nail hypoplasia - dysmorphism Hirschsprung disease - type D brachydactyly Hirschsprung disease and intellectual disability due to 2q22 microdeletion Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Hirschsprung disease and intellectual disability due to del(2)(q22) Hirschsprung disease and intellectual disability due to monosomy 2q22 Hirsutism-congenital gingival hyperplasia syndrome Hirsutism-skeletal dysplasiaintellectual disability syndrome His bundle tachycardia HIS deficiency Histidase deficiency Histidine ammonia-lyase deficiency Histidinemia Histidinuria Histidinuria - renal tubular defect Histiocytic necrotizing lymphadenitis Histiocytic sarcoma Histiocytoid cardiomyopathy → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 73 ORPHA Disease name number 390 Histoplasmosis 3325 HIT 1474 Hittner-Hirsch-Kreh syndrome 1573 572 2248 412 523 2213 178464 35701 64748 773 64751 401964 90119 99950 99950 90117 99953 69084 93111 640 67037 1979 2349 391665 414 995 3328 93970 2143 79242 2162 2165 2163 2117 2166 3186 392 2167 30924 34528 31043 2168 HJMD HLA class 2-negative severe combined immunodeficiency HLHS HLP type 3 HLRCC HMC syndrome HMERF HMG-CoA synthase deficiency HMSN 3 HMSN 4 HMSN 5 HMSN2 with giant axons HMSN with acrodystrophy HMSN, Lom type HMSN-Lom HMSNP HMSNR HNED HNF1B-MODY HNPP HNSCC Hoepffner-Dreyer-Reimers syndrome Hoffman syndrome HoFH HOGA Holmes-Benacerraf syndrome Holmes-Collins syndrome Holmes-Gang syndrome Holmes-Schepens syndrome Holocarboxylase synthetase deficiency Holoprosencephaly Holoprosencephaly - caudal dysgenesis Holoprosencephaly craniosynostosis Holoprosencephaly - ectrodactyly cleft lip palate Holoprosencephaly - postaxial polydactyly Holoprosencephaly - radial heart renal anomalies Holt-Oram syndrome Holzgreve-Wagner-Rehder syndrome HOMG1 HOMG2 HOMG3 Homocarnosinase deficiency ORPHA Disease name number 2168 Homocarnosinosis 394 395 622 56 163596 391665 14 →288 98958 98960 78 307936 2744 397 392 166412 1352 99907 2198 3322 306669 275777 98808 2162 46532 251380 247262 436 293958 47044 79233 510 510 79233 79233 79233 79233 79430 183678 231531 231537 280663 Homocystinuria due to cystathionine beta-synthase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria without methylmalonic aciduria Homogentisic acid oxidase deficiency Homozygous alpha0-thalassemia Homozygous familial hypercholesterolemia Homozygous familial hypobetalipoproteinemia Homozygous hereditary elliptocytosis Honey-droplet corneal dystrophy Honeycomb corneal dystrophy Hookworm infection HOPP syndrome Horizontal gaze palsy with progressive scoliosis Horton disease HOS Hot water reflex epilepsy Houlston-Ironton-Temple syndrome House allergic alveolitis Howell-Evans syndrome Hoyeraal-Hreidarsson syndrome HP-HA syndrome HPAH HPD with marked diurnal fluctuation HPE HPFH - beta-thalassemia HPFH - sickle cell disease HPMR HPP HPPD HPRCC HPRT1 partial deficiency HPRT complete deficiency HPRT deficiency grade IV HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPS HPS2 HPS7 HPS8 HPS9 ORPHA Disease name number 231500 HPS with pulmonary fibrosis 231512 HPS without pulmonary fibrosis 99880 HPT-JT 2323 84085 139564 970 1764 642 64752 314381 391397 139564 139573 391397 139578 2182 388 391417 85295 391428 391428 391457 391417 85295 391428 391428 391457 30924 1930 285 289326 228116 289326 289326 294973 295063 295061 294973 295063 295061 3265 HRD syndrome HS HSAN1B HSAN2 HSAN3 HSAN4 HSAN5 HSAN6 HSAN7 HSAN with cough and gastroesophageal reflux HSAN with deafness and global delay HSAN with hyperhidrosis and gastrointestinal dysfunction HSAN with spastic paraplegia HSAS HSCR HSD10 deficiency HSD10 deficiency, atypical type HSD10 deficiency, classic type HSD10 deficiency, infantile type HSD10 deficiency, neonatal type HSD10 disease HSD10 disease, atypical type HSD10 disease, classic type HSD10 disease, infantile type HSD10 disease, neonatal type HSH HSV encephalitis HT-EDS HTLV-1-associated myelopathy/tropical spastic paraparesis Hughes-Stovin syndrome Human T-lymphotropic virus type Iassociated myelopathy/tropical spastic paraparesis Human T-lymphotropic virus type1-associated myelopathy/tropical spastic paraparesis Humeral agenesis/hypoplasia Humeral agenesis/hypoplasia, bilateral Humeral agenesis/hypoplasia, unilateral Humeral intercalary meromelia Humeral intercalary meromelia, bilateral Humeral intercalary meromelia, unilateral Humero-radial fusion → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 74 ORPHA Disease name number 295211 Humero-radial fusion, bilateral 295209 Humero-radial fusion, unilateral 3265 Humero-radial synostosis 295211 Humero-radial synostosis, bilateral Humero-radial synostosis, 295209 unilateral 3266 Humero-radio-ulnar fusion Humero-radio-ulnar fusion, 295207 bilateral Humero-radio-ulnar fusion, 295205 unilateral Humero-radio-ulnar intercalary 294975 transverse meromelia Humero-radio-ulnar intercalary 295087 transverse meromelia, bilateral Humero-radio-ulnar intercalary 295085 transverse meromelia, unilateral 3266 Humero-radio-ulnar synostosis Humero-radio-ulnar synostosis, 295207 bilateral Humero-radio-ulnar synostosis, 295205 unilateral 93280 Humero-spinal dysostosis 94056 Humero-ulnar fusion 295215 Humero-ulnar fusion, bilateral 295213 Humero-ulnar fusion, unilateral 94056 Humero-ulnar synostosis 295215 Humero-ulnar synostosis, bilateral 295213 Humero-ulnar synostosis, unilateral →263463 Humerospinal dysostosis 3383 Humerus trochlea aplasia 580 Hunter syndrome 217085 Hunter syndrome type A 217093 Hunter syndrome type B Hunter-Carpenter-McDonald →35069 syndrome Hunter-Jurenka-Thompson 2715 syndrome 97340 Hunter-McAlpine craniosynostosis 3365 Hunter-Rudd-Hoffmann syndrome 1390 Hunter-Thompson-Reed syndrome 399 Huntington chorea 399 Huntington disease Huntington disease phenocopy due 401901 to C9ORF72 expansions 157941 Huntington disease-like 1 98934 Huntington disease-like 2 157946 Huntington disease-like 3 98759 Huntington disease-like 4 Huntington disease-like syndrome 401901 due to C9ORF72 expansions 363694 HUPRA syndrome 384 Huriez syndrome 93473 Hurler disease 93473 Hurler syndrome ORPHA Disease name number 93476 Hurler-Scheie syndrome 330061 Hutchinson summer prurigo 740 93160 71291 53698 70587 530 67041 400 99927 400 2898 2177 330021 330061 330058 364039 899 2186 1237 916 2180 2119 2183 2182 899 2184 2181 221126 2189 2473 2704 1426 1041 20 401 309147 Hutchinson-Gilford progeria syndrome HVDRR HVR Hyaline body myopathy Hyaline membrane disease Hyalinosis cutis et mucosae Hyaluronidase deficiency Hydatid disease Hydatidiform mole Hydatidosis Hyde Forster-McCarthy-Berry syndrome Hydranencephaly Hydrargyria Hydroa aestivale Hydroa vacciniforme Hydroa vacciniforme-like lymphoma Hydrocephalus - agyria - retinal dysplasia Hydrocephalus - blue sclerae nephropathy Hydrocephalus - cardiac malformation - dense bones Hydrocephalus - cleft palate - joint contractures Hydrocephalus - costovertebral dysplasia - Sprengel anomaly Hydrocephalus - endocardial fibroelastosis - cataract Hydrocephalus - obesity hypogonadism Hydrocephalus with stenosis of the aqueduct of Sylvius Hydrocephalus-agyria-retinal dysplasia syndrome Hydrocephaly - low insertion umbilicus Hydrocephaly - tall stature - joint laxity Hydrocephaly/hydranencephaly due to cerebral vasculopathy Hydrolethalus Hydrometrocolpos - postaxial polydactyly Hydronephrosis - inverted smile Hydrops - ectopic calcification motheaten Hydrops fetalis Hydroxymethylglutaric aciduria Hymenolepiasis Hyper-beta-alaninemia ORPHA Disease name number 343 Hyper-IgD syndrome 101090 101088 101088 101092 101092 101088 101089 101090 101091 101092 183663 183666 309147 927 401948 168588 90 234 3111 276405 306661 2196 209902 83639 1032 470 3197 163985 168956 3260 408 2410 243 Hyper-IgM syndrome due to CD40 deficiency Hyper-IgM syndrome due to CD40 ligand deficiency Hyper-IgM syndrome due to CD40L deficiency Hyper-IgM syndrome due to UNG deficiency Hyper-IgM syndrome due to uracil N-glycosylase Hyper-IgM syndrome type 1 Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyper-IgM syndrome with susceptibility to opportunistic infections Hyper-IgM syndrome without susceptibility to opportunistic infections Hyperalaninemia Hyperammonemia due to Nacetylglutamate synthetase deficiency Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Hyperandrogenism due to cortisone reductase deficiency Hyperargininemia Hyperbilirubinemia type 2 Hyperbilirubinemia, Rotor type Hyperbiliverdinemia Hypercalcemic tumoral calcinosis Hypercalciuria - bilateral macular coloboma Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hyperdibasic aminoaciduria type 1 Hyperdibasic aminoaciduria type 2 Hyperekplexia Hyperekplexia - epilepsy Hypereosinophilic syndrome Hypereosinophilic syndrome of undetermined significance Hyperglycerolemia Hypergonadotropic hypogonadism cataract syndrome Hypergonadotropic ovarian dysgenesis → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 75 ORPHA Disease name number 2157 Hyperhistidinemia 742 Hyperimidodipeptiduria 343 2314 169446 2314 343 343 79299 324575 263455 263458 263458 276603 71212 276598 276556 79299 71212 71212 324575 263455 263458 165991 71212 71212 Hyperimmunoglobinemia D with recurrent fever Hyperimmunoglobulin E syndrome type 1 Hyperimmunoglobulin E syndrome type 2 Hyperimmunoglobulin E-recurrent infection syndrome Hyperimmunoglobulinemia D syndrome Hyperimmunoglobulinemia D with periodic fever Hyperinsulinemic hypoglycemia due to glucokinase deficiency Hyperinsulinemic hypoglycemia due to HNF1A deficiency Hyperinsulinemic hypoglycemia due to HNF4A deficiency Hyperinsulinemic hypoglycemia due to INSR deficiency Hyperinsulinemic hypoglycemia due to insulin receptor deficiency Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxideresistant focal form Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacylCoA dehydrogenase deficiency Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxideresistant focal form Hyperinsulinemic hypoglycemia due to UCP2 deficiency Hyperinsulinism due to glucokinase deficiency Hyperinsulinism due to glutamodehydrogenase deficiency Hyperinsulinism due to HADH deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Hyperinsulinism due to SCHAD deficiency Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ORPHA number 165991 276556 35878 682 682 757 409 1662 1336 682 140905 412 411 412 413 70470 2203 2203 3124 289891 289891 88618 289290 289290 73267 414 414 415 2801 3416 77296 2780 99880 295002 295140 Disease name Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to UCP2 deficiency Hyperinsulinism-hyperammonemia syndrome Hyperkalemic periodic paralysis Hyperkalemic PP Hyperkaliemia - hypertension, Gordon type Hyperkeratosis lenticularis perstans Hyperkeratosis-contracture syndrome Hyperkeratosis-hyperpigmentation syndrome HyperKPP Hyperlipidemia due to hepatic triglyceride lipase deficiency Hyperlipidemia type 3 Hyperlipoproteinemia type 1 Hyperlipoproteinemia type 3 Hyperlipoproteinemia type 4 Hyperlipoproteinemia type 5 Hyperlysinemia Hyperlysinemia type I Hyperlysinemia type II Hypermethioninemia due to glycine N-methyltransferase deficiency Hypermethioninemia due to GNMT deficiency Hypermethioninemia due to Sadenosylhomocysteine hydrolase deficiency Hypermethioninemia encephalopathy due to adenosine kinase deficiency Hypermethioninemia encephalopathy due to ADK deficiency Hypernychthemeral syndrome Hyperornithinemia Hyperornithinemia - gyrate atrophy of choroid and retina Hyperornithinemiahyperammonemia-homocitrullinuria Hyperostosid corticalis deformans juvenilis Hyperostosis corticalis generalisata Hyperostosis frontalis interna Hyperostosis generalisata with striations Hyperparathyroidism-jaw tumor syndrome Hyperphalangy Hyperphalangy in digits 2-5 ORPHA Disease name number 295142 Hyperphalangy, bilateral 295140 Hyperphalangy, unilateral 1388 238583 13 238583 1578 226 2102 1578 238583 1578 2209 247262 34 157798 682 419 79101 93604 727 2211 1519 2213 2745 293958 293958 88660 757 423 2026 1231 Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome Hyperphenylalaninemia Hyperphenylalaninemia due to 6pyruvoyltetrahydropterin synthase deficiency Hyperphenylalaninemia due to BH4 deficiency Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to dihydropteridine reductase deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia with primapterinuria Hyperphenylalaninemic embryopathy Hyperphosphatasia-intellectual disability syndrome Hyperpipecolatemia Hyperplastic polyposis syndrome HyperPP Hyperprolinemia type 1 Hyperprolinemia type 2 Hyperprostaglandin E syndrome Hypersensitivity angiitis Hypertelorism - hypospadias polysyndactyly syndrome Hypertelorism, Teebi type Hypertelorism-microtia-facial clefting syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypertelorism-preauricular sinuspunctual pits-deafness syndrome Hypertelorism-preauricular sinuspunctual pits-hearing loss syndrome Hypertension due to gain-offunction mutations in the mineralocorticoid receptor Hypertensive hyperkalemia Hyperthermia of anesthesia Hypertrichose avec ou sans hyperplasie gingivale Hypertrichosis - atrophic skin ectropion - macrostomia → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 76 ORPHA Disease name number 2220 Hypertrichosis cubiti - short stature ORPHA Disease name number 989 Hypoglossia-hypodactyly syndrome Hypertrichosis lanuginosa congenita Hypertrichosis universalis Hypertrichosis with or without gingival hyperplasia Hypertrichosis-acromegaloid facial appearance syndrome Hypertrichosis-acromegaloid facial features syndrome Hypertrichosis-coarse face syndrome Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome Hypertrichotic osteochondrodysplasia, Cantu type Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation Hypertrophic cardiomyopathy due to intensive athletic training Hypertrophic gastropathy without hypoproteinemia Hypertrophic neuropathy of infancy Hypertrophic or verrucous lupus erythematosus Hypertryptophanemia Hyperuricemia - anemia - renal failure Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Hyperzincemia and hypercalprotectinemia Hypnic headache Hypo- and hypermelanotic cutaneous macules - retarded growth - intellectual disability Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypocalcified amelogenesis imperfecta Hypochondrogenesis Hypochondroplasia Hypocomplementemic urticarial vasculitis Hypodermyiasis Hypodontia - dysplasia of nails Hypodontia - nail dysgenesis Hypogenetic lung syndrome Hypogonadism - gynecomastia - Xlinked intellectual disability Hypogonadism - mitral valve prolapse - intellectual disability Hypogonadism-short staturecoloboma-preaxial polydactyly syndrome Hypogonadotropic hypogonadism frontoparietal alopecia Hypogonadotropic hypogonadism retinitis pigmentosa Hypogonadotropic hypogonadismsevere microcephaly-sensorineural deafness-dysmorphism syndrome Hypogonadotropic hypogonadismsevere microcephaly-sensorineural hearing loss-dysmorphism syndrome Hypohidrosis-enamel hypoplasiapalmoplantar keratodermaintellectual disability syndrome Hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia hypothyroidism - ciliary dyskinesia Hypohidrotic ectodermal dysplasia with immunodeficiency Hypoinsulinemic hypoglycemia and body hemihypertrophy Hypokalemic periodic paralysis Hypomagnesemia caused by selective magnesium malabsorption Hypomagnesemia intestinal type 1 Hypomandibular faciocranial dysostosis Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Hypomelanosis of Ito Hypomyelination - congenital cataract Hypomyelination hypogonadotropic hypogonadism hypodontia Hypomyelination neuropathy arthrogryposis Hypomyelination with atrophy of basal ganglia and cerebellum Hypomyelination with brain stem and spinal cord involvement and leg spasticity Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis 2222 2222 2026 966 966 966 319182 1517 324525 324525 217601 329883 64748 90282 2224 217330 363694 251523 276429 2435 289157 93160 100032 93297 429 36412 430 2228 2228 185 3423 2233 141333 2230 2235 293967 293967 363523 238468 1882 98813 293964 681 30924 30924 1790 100033 100034 435 85163 88637 2680 139441 363412 3453 ORPHA number 3453 2237 2323 2323 436 314621 99725 79477 79476 324561 42665 324561 →3157 →3157 →3157 91354 1863 99058 722 100031 2248 293864 3332 157855 327 2494 325 2250 157788 2261 Disease name Hypoparathyroidism - Addison's disease - mucocutaneous candidosis Hypoparathyroidism - deafness renal disease Hypoparathyroidism - intellectual disability - dysmorphism Hypoparathyroidism - short stature - intellectual disability - seizures Hypophosphatasia Hypophyseal duplication Hypophyseal gigantism Hypopigmentation immunodeficiency with or without neurologic impairment Hypopigmentation - neurologic impairment Hypopigmentation and punctate keratosis of the palms and soles Hypopigmentation-deafness syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopituitarism - micropenis - cleft lip/palate Hypopituitarism - microphthalmia Hypopituitarism - postaxial polydactyly Hypopituitarism due to empty sella turcica syndrome Hypoplasia of the femoral trochlea Hypoplasia of the mitral valve annulus Hypoplasminogenemia Hypoplastic amelogenesis imperfecta Hypoplastic left heart syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Hypoplastic tibiae - postaxial polydactyly Hypoprebetalipoproteinemia acanthocytosis - retinitis pigmentosa - pallidal degeneration Hypoproconvertinemia Hypoproteinemic hypertrophic gastropathy Hypoprothrombinemia Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism Hypospadias - hypertelorism coloboma and deafness Hypospadias - intellectual disability, Goldblatt type → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 77 ORPHA Disease name number 2745 Hypospadias-dysphagia syndrome 2745 2353 672 86906 370006 1226 3047 226307 90673 79507 91131 137908 363424 163690 371364 69735 55654 90368 1573 1573 444 91132 330029 2266 307936 307936 307936 Hypospadias-hypertelorism syndrome Hypotelorism - cleft palate hypospadias Hypothalamic hamartoblastoma syndrome Hypothalamic hamartomas with gelastic seizures Hypothalamic insufficiencysecondary microcephaly-visual impairment-urinary anomalies Hypothyroidism - cleft palate Hypothyroidism - dysmorphism postaxial polydactyly - intellectual disability Hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism due to TSH receptor mutations Hypotonia - failure to thrive microcephaly Hypotonia and ichthyosis due to dolichol phosphate deficiency Hypotonia with lactic acidemia and hyperammonemia Hypotonia-cerebral atrophyhyperglycinemia syndrome Hypotonia-cystinuria syndrome Hypotonia-speech impairmentsevere cognitive delay syndrome Hypotrichosis - lymphedema telangiectasia Hypotrichosis simplex Hypotrichosis simplex of the scalp Hypotrichosis with juvenile macular degeneration Hypotrichosis with juvenile macular dystrophy Hypotrichosis, Marie Unna type Hypotrichosis-congenital ichthyosis syndrome Hypotrichosis-deafness syndrome Hypotrichosis-intellectual disability, Lopes type Hypotrichosis-osteolysisperiodontitis-palmoplantar hyperkeratosis syndrome Hypotrichosis-osteolysisperiodontitis-palmoplantar keratoderma syndrome Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysisperiodontitis syndrome ORPHA number Disease name Hypotrichosis-striate palmoplantar 307936 keratoderma-acroosteolysis- 79233 510 79233 510 79233 137577 137577 682 63440 63440 576 724 158048 293168 254509 95619 363424 →33364 611 602 79091 52430 1576 31709 64734 2268 2269 2274 59303 2278 →1643 2272 455 457 periodontitis syndrome Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency Hypoxanthine guanine phosphoribosyltransferase complete deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxic and ischemic brain injury in the newborn Hypoxic-ischemic encephalopathy HYPP Hypsicephaly Hypsocephaly I-cell disease IAEP IAHS IAHSP Iatrogenic botulism Iatrogenic or traumatic pituitary deficiency IBA57 deficiency IBIDS syndrome IBM IBM2 IBM3 IBMPFD IBSN ICCA syndrome ICE syndrome ICF syndrome Ichthyosis - alopecia - eclabion ectropion - intellectual disability Ichthyosis - hepatosplenomegaly cerebellar degeneration Ichthyosis - hypotrichosis sclerosing cholangitis Ichthyosis - intellectual disability dwarfism - renal impairment Ichthyosis - male hypogonadism Ichthyosis - oral and digital anomalies Ichthyosis bullosa of Siemens Ichthyosis congenita, harlequin type ORPHA Disease name number 289586 Ichthyosis exfoliativa 457 Ichthyosis fetalis, Harlequin type 2273 2273 79504 79503 79503 88621 281190 281190 79504 2267 91132 91132 91132 363992 289347 3306 930 930 724 139423 422 280914 88 399307 399307 1980 171684 84065 60033 188 163703 228000 169615 2902 95717 209919 256 Ichthyosis follicularis - alopecia photophobia Ichthyosis follicularis - atrichia photophobia Ichthyosis hystrix gravior Ichthyosis hystrix of Curth-Macklin Ichthyosis hystrix, Curth-Macklin type Ichthyosis prematurity syndrome Ichthyosis variegata Ichthyosis with confetti Ichthyosis, Lambert type Ichthyosis-cheek-eyebrow syndrome Ichthyosis-follicular atrophodermahypotrichosis syndrome Ichthyosis-follicular atrophodermahypotrichosis-hypohidrosis syndrome Ichthyosis-hypotrichosis syndrome Ichthyosis-short staturebrachydactyly-microspherophakia syndrome IDH idic(15) Idiopathic achalasia Idiopathic achalasia of esophagus Idiopathic acute eosinophilic pneumonia Idiopathic acute transverse myelitis Idiopathic and/or familial pulmonary arterial hypertension Idiopathic anterior uveitis Idiopathic aplastic anemia Idiopathic avascular necrosis Idiopathic AVN Idiopathic basal ganglia calcification Idiopathic bilateral vestibulopathy Idiopathic bile acid malabsorption Idiopathic bronchiectasis Idiopathic capillary leak syndrome Idiopathic catastrophic epileptic encephalopathy Idiopathic CD4 lymphocytopenia Idiopathic central precocious puberty Idiopathic chronic eosinophilic pneumonia Idiopathic congenital hypothyroidism Idiopathic copper-associated cirrhosis Idiopathic dystonia → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 78 ORPHA Disease name number 247724 Idiopathic eosinophilic myositis 2810 Idiopathic facial palsy 329874 Idiopathic giant cell myocarditis 64722 86908 2197 33208 228315 228318 1572 51608 35062 238624 85193 247234 314017 33577 90158 353344 353351 84065 73 97560 2774 824 45452 33577 51608 441 280921 747 280917 747 275766 1676 2032 99931 35061 Idiopathic granulomatous mastitis Idiopathic hemiconvulsionhemiplegia syndrome Idiopathic hypercalciuria Idiopathic hypersomnia Idiopathic hypersomnia with long sleep time Idiopathic hypersomnia without long sleep time Idiopathic immunoglobulin deficiency Idiopathic infantile arterial calcification Idiopathic infection disseminated by cytomegalovirus Idiopathic intracranial hypertension Idiopathic juvenile osteoporosis Idiopathic late-onset cerebellar ataxia Idiopathic linear interstitial keratitis Idiopathic lobular panniculitis Idiopathic localized lipodystrophy Idiopathic macular telangiectasia type 1 Idiopathic macular telangiectasia type 3 Idiopathic malabsorption due to bile acid synthesis defects Idiopathic massive osteolysis Idiopathic membranous glomerulonephritis Idiopathic multicentric osteolysis with or without nephropathy Idiopathic myelofibrosis Idiopathic neonatal atrial flutter Idiopathic nodular panniculitis Idiopathic obliterative arteriopathy Idiopathic orthostatic hypotension Idiopathic panuveitis Idiopathic PAP Idiopathic posterior uveitis Idiopathic pulmonary alveolar proteinosis Idiopathic pulmonary arterial hypertension Idiopathic pulmonary artery dilatation Idiopathic pulmonary fibrosis Idiopathic pulmonary hemosiderosis Idiopathic recurrent and disabling cutaneous herpes ORPHA Disease name number 251307 Idiopathic recurrent pericarditis 276174 Idiopathic recurrent stupor 251307 Idiopathic relapsing pericarditis 40923 40923 209943 35065 69061 93209 93206 93206 93207 99858 256 98806 3347 209956 130 228140 280384 580 217085 217093 92050 91132 2273 332 329903 329903 761 329874 79099 73272 79078 364013 86908 91132 Idiopathic retinal perivasculitis Idiopathic retinal vasculitis Idiopathic retinal-aneurysmsneuroretinitis syndrome Idiopathic severe pneumococcemia Idiopathic steroid-sensitive nephrotic syndrome Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Idiopathic steroid-sensitive nephrotic syndrome with minimal change Idiopathic syringomyelia Idiopathic torsion dystonia Idiopathic torsion dystonia of mixed type Idiopathic tracheobronchomegaly Idiopathic uveal effusion syndrome Idiopathic ventricular fibrillation, Brugada type Idiopathic ventricular fibrillation, not Brugada type IDMDC Iduronate 2-sulfatase deficiency Iduronate 2-sulfatase deficiency type A Iduronate 2-sulfatase deficiency type B IED IFAH syndrome IFAP syndrome IFD Ig-mediated membranoproliferative glomerulonephritis Ig-mediated MPGN IgA vasculitis IGCM IGDA IGF-1 deficiency IgG4-related dacryoadenitis and sialoadenitis IHF IHHS IHS ORPHA number 59303 IHSC 238624 IIH 85193 IJO Disease name 100078 Ileal endocrine tumor 238621 1150 79466 85173 247718 42062 284362 398987 289465 98861 2901 169090 37042 364013 364013 364013 364013 1959 3002 3002 206569 206575 86886 2268 647 34592 572 169147 169150 169150 Ileal pouch anal anastomosis related faecal incontinence Illum syndrome ILVEN IMAGe syndrome IMAM Iminoglycinuria Immature interstitial mesenchymal tumor Immature teratoma of ovary Immigration delay disease Immotile cilia syndrome, Kartagener type Immune brachial plexus neuropathy Immune dysfunction due to T-cell inactivation due to calcium entry defect Immune dysregulationpolyendocrinopathy-enteropathy-Xlinked syndrome Immune fetal edema Immune fetal hydrops Immune HF Immune hydrops fetalis Immune pancytopenia Immune thrombocytopenia Immune thrombocytopenic purpura Immune-mediated necrotizing myopathy Immune-mediated rippling muscle disease Immunoblastic lymphadenopathy Immunodeficiency - centromeric instability - facial anomalies Immunodeficiency - microcephaly chromosomal instability Immunodeficiency by defective expression of HLA class 1 Immunodeficiency by defective expression of HLA class 2 Immunodeficiency due to a C1, C4, or C2 component complement deficiency Immunodeficiency due to a C5 to C9 component complement deficiency Immunodeficiency due to a late component of complements deficiency → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 79 ORPHA number Disease name Immunodeficiency due to an early 169147 component of complement 169100 331190 70592 331187 70593 200421 200418 75391 935 761 169110 329903 329903 85443 100025 97567 857 2759 71276 35069 35069 254509 45453 79263 231226 199267 602 79091 52430 611 254693 254693 deficiency Immunodeficiency due to CD25 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency with factor H anomaly Immunodeficiency with factor I anomaly Immunodeficiency with naturalkiller cell deficiency and adrenal insufficiency Immunodeficiency-short limb dwarfism syndrome Immunoglobulin A vasculitis Immunoglobulin heavy chain deficiency Immunoglobulin-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN Immunoglobulinic amyloidosis Immunoproliferative small intestinal disease Immunotactoid glomerulopathy Imperforate anus with hand, foot and ear anomalies Imperforate oropharynx - costo vetebral anomalies Imploding antrum syndrome INAD INAD1 Inadvertent botulism Incessant infant ventricular tachycardia INCL Inclusion body beta-thalassemia Inclusion body fibromatosis Inclusion body myopathy type 2 Inclusion body myopathy type 3 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myositis Incomplete hydatidiform mole Incomplete molar pregnancy ORPHA Disease name number 157769 Incomplete situs inversus 180079 180079 464 435 158019 1388 101335 98848 1909 70587 70587 178478 1943 178478 178478 178478 70587 178487 247165 99749 99725 70590 51608 2679 89938 1576 178478 314911 137675 217557 313850 402364 77260 1313 31709 1310 199267 87876 Incomplete unilateral aplasia of the Müllerian ducts Incomplete unilateral müllerian aplasia Incontinentia pigmenti Incontinentia pigmenti type 1 Indeterminate cell histiocytosis Index finger anomaly - Pierre Robin syndrome Indian tick typhus Indolent systemic mastocytosis Indomethacin embryofetopathy Infant acute respiratory distress syndrome Infant ARDS Infant botulism Infant epilepsy with migrant focal crisis Infant intestinal botulism Infant intestinal toxemia botulism Infant intestinal toxin-mediated botulism Infant respiratory distress syndrome Infant-like botulism Infantile acrodynia Infantile agranulocytosis Infantile and juvenile forms of acromegaly Infantile apnea Infantile arteriosclerosis Infantile axonal neuropathy Infantile Bartter syndrome with sensorineural deafness Infantile bilateral striatal necrosis Infantile botulism Infantile Canavan disease Infantile cardiomyopathy with histiocytoid change Infantile cellular interstitial pneumonitis Infantile cerebellar-retinal degeneration Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile cerebral Gaucher disease Infantile choroidocerebral calcification syndrome Infantile convulsions and choreoathetosis Infantile cortical hyperostosis Infantile digital fibromatosis Infantile dysmorphic sialidosis ORPHA Disease name number 238455 Infantile dystonia-parkinsonism 364063 300373 289860 79255 309155 293603 352563 247651 79076 206436 1928 667 247165 247165 2591 79263 93591 35069 79263 289860 289860 251304 1186 67047 85179 247651 247651 772 254864 263410 3451 3173 83330 1576 1576 1575 Infantile epileptic-dyskinetic encephalopathy Infantile gigantism due to pituitary hyperplasia Infantile glycine encephalopathy Infantile GM1 gangliosidosis Infantile GM2 gangliosidosis 0 variant Infantile hereditary endothelial dystrophy Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypophosphatasia Infantile juvenile polyposis syndrome Infantile Krabbe disease Infantile lobar hyperinflation Infantile malignant osteopetrosis Infantile mercury intoxication Infantile mercury poisoning Infantile myofibromatosis Infantile NCL Infantile nephronophthisis Infantile neuroaxonal dystrophy Infantile neuronal ceroid lipofuscinosis Infantile NKH Infantile non-ketotic hyperglycinemia Infantile onset panniculitis with uveitis and systemic granulomatosis Infantile onset spinocerebellar ataxia Infantile optic atrophy with chorea and spastic paraplegia Infantile osteopetrosis with neuroaxonal dysplasia Infantile phosphoethanolaminuria Infantile Rathburn disease Infantile Refsum disease Infantile reversible cytochrome c oxidase deficiency myopathy Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease Infantile spasms Infantile spasms - broad thumbs Infantile spinal muscular atrophy Infantile striatonigral degeneration Infantile striatonigral necrosis Infantile striatothalamic degeneration → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 80 ORPHA number Disease name Infantile subacute necrotizing 255241 encephalopathy with 255249 3311 2176 1577 2768 137675 293168 284332 391316 1451 171714 781 137593 289347 289347 289347 99123 155889 99123 280794 280794 85445 79466 178342 160148 247718 263553 48918 90003 238305 95513 leukodystrophy Infantile subacute necrotizing encephalopathy with nephrotic syndrome Infantile symmetrical thalamic degeneration Infantile systemic hyalinosis Infantile thalamic degeneration Infantile tibia vara Infantile xanthomatous cardiomyopathy Infantile-onset ascending hereditary spastic paralysis Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression Infantile-onset multisystem inflammatory disease Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness Infection due to Coxiella burnetii Infectious epithelial keratitis Infective dermatitis associated with HTLV-1 Infective dermatitis associated with human T-lymphotropic virus type 1 Infective dermatitis associated with human T-lymphotropic virus type I Inferior caval vein interruption Inferior palpebral coloboma Inferior vena cava interruption Infiltrative small vesicular DCM Infiltrative small vesicular diffuse cutaneous mastocytosis Inflammatory amyloidosis Inflammatory linear verrucous epidermal nevus Inflammatory myofibroblastic tumor Inflammatory myoglandular polyps Inflammatory myopathy with abundant macrophages Inflammatory peeling skin syndrome Inflammatory pseudotumor of skeletal muscle Inflammatory pseudotumor of the liver Infundibulo-neurohypophysitis Infundibulo-panhypophysitis ORPHA number 1849 247257 254504 247257 254504 319465 319465 319462 282166 210141 210141 282166 859 100054 100054 100054 100054 71278 71278 289548 225968 37 63259 178475 642 411593 2297 2298 97279 127 289483 1236 3041 168972 3042 Disease name Infundibulopelvic stenosis multicystic kidney Inhalation anthrax disease Inhalation botulism Inhalational anthrax Inhalational botulism Inherited acute myeloid leukemia Inherited AML Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited CJD Inherited congenital spastic quadriplegia Inherited congenital spastic tetraplegia Inherited Creutzfeldt-Jakob disease Inherited deficiency of transcobalamin Inherited estrogen-associated angioedema Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema Inherited glutamine synthetase deficiency Inherited GS deficiency Inherited isolated adrenal insufficiency due to CYP11A1 deficiency Inherited predisposition to essential thrombocythemia Inherited zinc deficiency Iniencephaly Inoculation botulism Insensitivity to pain - anhidrosis Insulin autoimmune syndrome Insulin-resistance syndrome type A Insulin-resistance syndrome type B Insulinoma Intellectual deficiency - epilepsy endocrine disorders Intellectual disability - alacrima achalasia Intellectual disability - athetosis microphthalmia Intellectual disability - balding patella luxation - acromicria Intellectual disability - cataract coloboma - kyphosis Intellectual disability - cataracts calcified pinnae - myopathy ORPHA number 171860 329224 3044 98788 171851 2139 1495 166108 3050 356996 3451 3067 3068 3071 352530 3082 3409 3074 1240 3051 1891 75858 100973 166108 Disease name Intellectual disability - cataracts kyphosis Intellectual disability - craniofacial dysmorphism - cryptorchidism Intellectual disability dysmorphism - hypogonadism diabetes mellitus Intellectual disability dysmorphism - intrauterine growth retardation Intellectual disability - enteropathy - deafness - peripheral neuropathy ichthyosis - keratodermia intellectual disability - epilepsy bulbous nose Intellectual disability - hypoplastic corpus callosum - preauricular tag Intellectual disability - hypotonia facial dysmorphism Intellectual disability - hypotonia skin hyperpigmentation Intellectual disability - hypotonia spasticity - sleep disorder Intellectual disability hypsarrhythmia Intellectual disability microcephaly - phalangeal - facial abnormalities Intellectual disability - myopathy short stature - endocrine defect Intellectual disability - nasal papillomata Intellectual disability - obesity brain malformations - facial dysmorphism Intellectual disability - polydactyly uncombable hair Intellectual disability - short stature - hand contractures - genital anomalies Intellectual disability - short stature - hypertelorism Intellectual disability - short stature - wedge shaped epiphyses of knees Intellectual disability - sparse hair brachydactyly Intellectual disability - spasticity ectrodactyly Intellectual disability - truncal obesity - retinal dystrophy micropenis Intellectual disability associated with fragile site FRAXE Intellectual disability, Birk-Barel type → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 81 ORPHA number 3079 168972 2557 3080 2466 364577 397709 397709 3454 404440 370010 363611 369847 314575 397973 369837 369950 391372 363528 397941 1478 51890 86900 86900 210115 Disease name Intellectual disability, Buenos-Aires type Intellectual disability, Kahrizi type Intellectual disability, MietensWeber type Intellectual disability, Wolff type Intellectual disability-aphasiashuffling gait-adducted thumbs syndrome Intellectual disabilitybrachydactyly-Pierre Robin syndrome Intellectual disability-coarse facemacrocephaly-cerebellar hypoplasia syndrome Intellectual disability-coarse facemacrocephaly-cerebellar hypotrophy syndrome Intellectual disabilitydevelopmental delay-contractures syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial dysmorphism-hand anomalies syndrome Intellectual disability-feeding difficulties-developmental delaymicrocephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypotoniabrachycephaly-pyloric stenosiscryptorchidism syndrome Intellectual disability-obesityprognathism-eye and skin anomalies syndrome Intellectual disability-seizureshypotonia-ophthalmologic-skeletal anomalies syndrome Intellectual disability-seizuresmacrocephaly-obesity syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-strabismus syndrome Intellectual disability-truncal obesity syndrome Interauricular communication Intercostal nerve syndrome Interdigitating cell sarcoma Interdigitating dendritic cell sarcoma Interleukin-1 receptor antagonist deficiency ORPHA number 169100 171208 268162 268162 411634 99989 86797 268162 268162 171433 210110 309331 83418 268173 268173 329967 268173 268173 →2686 981 37202 79099 99092 1201 178481 178481 92050 30924 3452 3452 314376 86880 178481 178481 228371 46724 252006 91352 252006 Disease name Interleukin-2 receptor alpha chain deficiency Intermediate anorectal malformation Intermediate BCKD deficiency Intermediate branched-chain 2ketoacid dehydrogenase deficiency Intermediate cystinosis Intermediate DEND syndrome Intermediate lichen myxedematosus Intermediate maple syrup urine disease Intermediate MSUD Intermediate nemaline myopathy Intermediate osteopetrosis Intermediate severe Salla disease Intermediate spinal muscular atrophy Intermittent BCKD deficiency Intermittent branched-chain 2ketoacid dehydrogenase deficiency Intermittent hydrarthrosis Intermittent maple syrup urine disease Intermittent MSUD Intermittent neutropenia Internal carotid agenesis Interstitial cystitis Interstitial granulomatous dermatitis with arthritis Interventricular septum aneurysm Intestinal atresia type IIIb Intestinal botulism Intestinal colonization botulism Intestinal epithelial dysplasia Intestinal hypomagnesemia with secondary hypocalcemia Intestinal lipodystrophy Intestinal lipophagic granulomatosis Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intestinal T-cell lymphoma Intestinal toxemia botulism Intestinal toxin-mediated botulism Intoxication botulism Intracranial arteriovenous malformation Intracranial endodermal sinus tumor Intracranial germinoma Intracranial yolk sac tumor ORPHA number 137622 424058 424982 69665 280802 280802 99088 100003 268139 140436 137686 85173 137686 98839 98839 332 3306 90078 90078 99925 324648 96092 79405 329324 98951 79409 79409 96092 2704 1451 1186 275766 238455 37042 88621 100025 70592 772 209981 64734 240885 Disease name Intractable diarrhea - choanal atresia - eye anomalies Intraductal papillary mucinous carcinoma of pancreas Intrahepatic bile duct cystadenocarcinoma Intrahepatic cholestasis of pregnancy Intralobar congenital bronchopulmonary sequestration Intralobar congenital pulmonary sequestration Intramural coronary arterial course Intraneural perineurioma Intraocular medulloepithelioma Intraosseous hemangioma Intrauterine adhesions Intrauterine growth retardation metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies Intrauterine synechiae Intravascular large B-cell lymphoma Intravascular lymphomatosis Intrinsic factor deficiency Inv dup(15) Invasive infections due to vancomycin-resistant enterococci Invasive infections due to VRE Invasive mole Invasive non-typhoidal salmonellosis Invdupdel(8p) Inverse JEB Inverse Klippel-Trénaunay syndrome Inverse Marcus-Gunn phenomenon Inverse RDEB Inverse recessive dystrophic epidermolysis bullosa Inverted 8p duplication/deletion syndrome Inverted smile - neurogenic bladder IOMID syndrome IOSCA IPAH IPD IPEX IPS IPSID IRAK4 deficiency IRD IRIDA syndrome Iridocorneal endothelial syndrome Irinotecan toxicity → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 82 ORPHA number 2995 1831 39044 209981 43115 86915 209943 84142 84142 972 85200 85200 85200 1509 43115 79144 79159 79159 3309 3310 884 884 3307 96055 98797 98798 99731 3306 6 263524 289465 229717 180188 268868 263524 1048 140989 250923 91397 79143 3387 162516 268936 Disease name Iris coloboma-ptosis-intellectual disability syndrome Iris dysplasia - hypertelorism deafness Iris melanoma Iron-refractory iron deficiency anemia Iron-sulfur cluster deficiency myopathy Irons-Bianchi syndrome IRVAN syndrome Isaac syndrome Isaac-Mertens syndrome Isaacs-Mertens syndrome Ischio-spinal dysostosis Ischio-vertebral dysplasia Ischio-vertebral syndrome Ischiopatellar dysplasia ISCU myopathy Iso-Kikuchi syndrome Isobutyric aciduria Isobutyryl-CoA dehydrogenase deficiency Isochromosome 5p Isochromosome 9p Isochromosome 12p mosaicism Isochromosome 12p syndrome Isochromosome 18p Isochromosome 21 Isochromosomy Yp Isochromosomy Yq ISOD Isodicentric 15 chromosome Isolated 3-methylcrotonyl-CoA carboxylase deficiency Isolated acute necrotizing encephalopathy Isolated adermatoglyphia Isolated agammaglobulinemia Isolated amastia Isolated amyelia Isolated ANE Isolated anencephaly/exencephaly Isolated angiitis of the central nervous system Isolated aniridia Isolated ankyloblepharon filiforme adnatum Isolated anonychia Isolated anterior cervical hypertrichosis Isolated apertura pyriformis stenosis Isolated arhinencephaly ORPHA Disease name number 1166 Isolated asymmetric crying facies 206599 254913 34528 199326 269221 158778 35099 180188 1398 269203 199630 2343 1460 217059 91416 79143 88620 162526 238722 217059 99171 432 141152 91489 238722 217059 162516 91490 216718 216718 1460 254905 91396 254905 217 Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase deficiency Isolated autosomal dominant hypomagnesemia Isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated bilateral hemispheric cerebellar hypoplasia Isolated bone marrow mastocytosis Isolated brachycephaly Isolated breast aplasia Isolated cerebellar hypoplasia/agenesis Isolated cerebellar vermis agenesis Isolated cerebellar vermis hypoplasia Isolated cloverleaf skull syndrome Isolated coenzyme Q-cytochrome C reductase deficiency Isolated congenital acropachy Isolated congenital alacrima Isolated congenital anonychia Isolated congenital anosmia Isolated congenital auditory ossicle malformation Isolated congenital controlateral synkinesia Isolated congenital digital clubbing Isolated congenital ectropion Isolated congenital gonadotropin deficiency Isolated congenital hypoglossia/aglossia Isolated congenital megalocornea Isolated congenital mirror movements Isolated congenital nail clubbing Isolated congenital nasal pyriform aperture stenosis Isolated congenital sclerocornea Isolated congenitally uncorrected transposition of the great arteries Isolated congenitally uncorrected transposition of the great vessels Isolated CoQ-cytochrome C reductase deficiency Isolated COX deficiency Isolated cryptophthalmia Isolated cytochrome C oxidase deficiency Isolated Dandy-Walker malformation ORPHA number 269212 269215 248340 248340 248340 248340 99177 35093 1885 199647 221106 65683 268961 268973 268980 268987 268994 269001 269008 52901 52901 408 231662 231671 231679 231692 2128 306527 229717 2345 1084 268920 391474 268920 238593 95707 90641 Disease name Isolated Dandy-Walker malformation with hydrocephalus Isolated Dandy-Walker malformation without hydrocephalus Isolated delta-SPD Isolated delta-storage pool disease Isolated dense-SPD Isolated dense-storage pool disease Isolated distichiasis Isolated dolichocephaly Isolated ectopia lentis Isolated encephalocele Isolated facial myokymia Isolated focal cortical dysplasia Isolated focal cortical dysplasia type I Isolated focal cortical dysplasia type Ia Isolated focal cortical dysplasia type Ib Isolated focal cortical dysplasia type Ic Isolated focal cortical dysplasia type II Isolated focal cortical dysplasia type IIa Isolated focal cortical dysplasia type IIb Isolated follicle stimulating hormone deficiency Isolated FSH deficiency Isolated glycerol kinase deficiency Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IB Isolated growth hormone deficiency type II Isolated growth hormone deficiency type III Isolated hemihyperplasia Isolated hereditary congenital facial paralysis Isolated hypogammaglobulinemia Isolated Klippel-Feil syndrome Isolated lissencephaly type 1 without known genetic defects Isolated macrencephaly Isolated median cleft syndrome Isolated megalencephaly Isolated mesenteric lipodystrophy Isolated micropenis Isolated mitochondrial neurosensory deafness → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 83 ORPHA number 2609 3208 1460 254905 254913 90641 2609 2609 2609 162516 137902 166119 63440 269209 96269 718 718 35098 2924 2456 216452 216445 238670 238670 264691 34528 35093 178311 3208 3208 3208 99731 90674 238670 238670 238670 Disease name Isolated mitochondrial respiratory chain complex I deficiency Isolated mitochondrial respiratory chain complex II deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated mitochondrial respiratory chain complex IV deficiency Isolated mitochondrial respiratory chain complex V deficiency Isolated mitochondrial sensorineural deafness Isolated NADH-coenzyme Q reductase deficiency Isolated NADH-CoQ reductase deficiency Isolated NADH-ubiquinone reductase deficiency Isolated nasal pyriform aperture hypoplasia Isolated optic nerve hypoplasia Isolated osteopoikilosis Isolated oxycephaly Isolated partial cerebellar vermis agenesis Isolated partial vaginal agenesis Isolated Pierre Robin sequence Isolated Pierre Robin syndrome Isolated plagiocephaly Isolated polycystic liver disease Isolated polythelia Isolated postlingual genetic deafness Isolated prelingual genetic deafness Isolated prothyroliberin deficiency Isolated protirelin deficiency Isolated pulmonary capillaritis Isolated renal magnesium wasting Isolated scaphocephaly Isolated sternocostoclavicular hyperostosis Isolated succinate-coenzyme Q reductase deficiency Isolated succinate-CoQ reductase deficiency Isolated succinate-ubiquinone reductase deficiency Isolated sulfite oxidase deficiency Isolated thyroid-stimulating hormone deficiency Isolated thyroliberin deficiency Isolated thyrotropin-releasing factor deficiency Isolated thyrotropin-releasing hormone deficiency ORPHA number 269206 103909 238670 238670 3366 90674 238670 1460 269218 860 96 240887 472 2305 2305 2306 33 33 309324 2739 435 3002 99123 294415 97548 2307 281190 3236 1540 2848 2308 1941 2029 93277 2269 1873 300605 73423 73423 1891 2590 168491 79139 2311 474 91412 313795 397715 Disease name Isolated total cerebellar vermis agenesis Isolated trehalose intolerance Isolated TRF deficiency Isolated TRH deficiency Isolated trigonocephaly Isolated TSH deficiency Isolated TSH-releasing factor deficiency Isolated ubiquinone-cytochrome C reductase deficiency Isolated unilateral hemispheric cerebellar hypoplasia Isolated ventriculoarterial discordance Isolated vitamin E deficiency Isoniazid toxicity Isosporiasis Isotretinoin embryopathy Isotretinoin syndrome Isotretinoin-like syndrome Isovaleric acid CoA dehydrogenase deficiency Isovaleric acidemia ISSD Itin syndrome Ito hypomelanosis ITP IVC interruption Ivemark II syndrome Ivemark syndrome IVIC syndrome IWC Jackson-Barr syndrome Jackson-Weiss syndrome Jacobs syndrome Jacobsen syndrome JAE Jaffe-Campanacci syndrome Jaffe-Lichtenstein disease Jagell-Holmgren-Hofer syndrome Jalili syndrome JALS Jamaican vomiting sickness Jamaican vomiting syndrome Jancar syndrome Jankovic-Rivera syndrome Jansky-Bielschowsky disease Japanese encephalitis Jarcho-Levin syndrome JATD Jaw-winking syndrome Jawad syndrome JBTS with JATD ORPHA Disease name number 139431 Jeavons syndrome 79404 JEB-H 79405 JEB-I 79406 79402 251393 79403 1201 100077 1201 89840 3213 90647 33314 33314 33314 3283 474 474 248111 2929 65684 307 324999 289596 79264 2314 2315 2316 85320 2316 1112 1485 324999 2295 2027 1256 475 475 1454 1454 397715 397715 JEB-lo JEB-nH gen JEB-nH loc JEB-PA Jejunal atresia Jejunal endocrine tumor Jejunoileal atresia JEN-nH Jensen syndrome Jervell and Lange-Nielsen syndrome Jessner's benign lymphocytic infiltration of the skin Jessner's lymphocytic infiltration of the skin Jessner-Kanof lymphocytic infiltration of the skin JET Jeune asphyxiating thoracic dystrophy Jeune syndrome JHD JIP JMADUE JME JMP syndrome JNA JNCL Job syndrome Johanson-Blizzard syndrome Johnson neuroectodermal syndrome Johnson syndrome Johnson-McMillin syndrome Johnson-Munson syndrome Johnston-Aarons-Schelley syndrome Joint contractures-muscular atrophy-microcytic anemiapanniculitis-associated lipodystrophy syndrome Joint instability syndrome Jones syndrome Jorgenson-Lenz syndrome Joubert syndrome Joubert syndrome type A Joubert syndrome with congenital hepatic fibrosis Joubert syndrome with hepatic defect Joubert syndrome with JATD Joubert syndrome with Jeune asphyxiating thoracic dystrophy → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 84 ORPHA number 220493 2318 2754 2754 220497 220493 2318 475 2801 247604 2929 2318 1454 220493 2318 220497 2319 93972 3283 79403 79404 79402 79405 79402 79404 79404 89840 2321 319223 989 1941 391497 300605 199260 391497 314918 247794 300605 Disease name Joubert syndrome with ocular defect Joubert syndrome with oculorenal defect Joubert syndrome with oral-facialdigital syndrome Joubert syndrome with orofaciodigital defect Joubert syndrome with renal defect Joubert syndrome with retinopathy Joubert syndrome with SeniorLoken syndrome Joubert-Boltshauser syndrome JPG JPLS JPS JS type B JS-H JS-O JS-OR JS-R Juberg-Hayward syndrome Juberg-Marsidi syndrome Junctional ectopic tachycardia Junctional epidermolysis bullosa pyloric atresia Junctional epidermolysis bullosa generalisata gravis Junctional epidermolysis bullosa generalisata mitis Junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa, Disentis type Junctional epidermolysis bullosa, Herlitz type Junctional epidermolysis bullosa, Herlitz-Pearson type Junctional epidermolysis bullosa, non-Herlitz type Jung-Wolff-Back-Stahl syndrome Junin hemorrhagic fever Jussieu syndrome Juvenile absence epilepsy Juvenile acquired myasthenia Juvenile amyotrophic lateral sclerosis Juvenile aponeurotic fibromatosis Juvenile autoimmune myasthenia gravis Juvenile Canavan disease Juvenile cataract - microcornea renal glucosuria Juvenile Charcot disease ORPHA number 86834 411634 93672 93672 228254 2929 98977 79256 309162 79230 98954 248111 248111 2028 2929 300605 65684 65684 391497 86834 307 307 289596 79264 93592 411634 79264 157719 85193 329894 2801 2801 247604 93568 93568 79076 2929 247604 85436 85408 247854 247861 Disease name Juvenile chronic myelomonocytic leukemia Juvenile cystinosis Juvenile dermatomyositis Juvenile DM Juvenile elastoma without osteopoikilosis Juvenile gastrointestinal polyposis Juvenile glaucoma Juvenile GM1 gangliosidosis Juvenile GM2 gangliosidosis 0 variant Juvenile hemochromatosis Juvenile hereditary epithelial dystrophy of Meesmann Juvenile Huntington chorea Juvenile Huntington disease Juvenile hyaline fibromatosis Juvenile intestinal polyposis Juvenile Lou Gehrig disease Juvenile muscular atrophy of distal upper extremity Juvenile muscular atrophy of the distal upper limb Juvenile myasthenia gravis Juvenile myelomonocytic leukemia Juvenile myoclonic epilepsy Juvenile myoclonus epilepsy Juvenile nasopharyngeal angiofibroma Juvenile NCL Juvenile nephronophthisis Juvenile nephropathic cystinosis Juvenile neuronal ceroid lipofuscinosis Juvenile or adult CACH syndrome Juvenile osteoporosis Juvenile overlap myositis Juvenile Paget disease Juvenile Paget's disease Juvenile PLS Juvenile PM Juvenile polymyositis Juvenile polyposis of infancy Juvenile polyposis syndrome Juvenile primary lateral sclerosis Juvenile psoriatic arthritis Juvenile rheumatoid factornegative polyarthritis Juvenile rheumatoid factornegative polyarthritis with antinuclear antibodies Juvenile rheumatoid factornegative polyarthritis without antinuclear antibodies ORPHA number Disease name Juvenile rheumatoid factor-positive polyarthritis 93399 Juvenile sialidosis type 2 83419 Juvenile spinal muscular atrophy 85438 Juvenile spondylarthropathy 26137 Juvenile temporal arteritis 158000 Juvenile xanthogranuloma Juvenile-onset multiple carboxylase 79241 deficiency Juvenile-onset vitelliform macular 1243 dystrophy Juxtaposition of the atrial 99100 appendages 99100 Juxtaposition of the atrial auricles 1540 JWS 2322 Kabuki make-up syndrome 2322 Kabuki syndrome 85146 Kaeser syndrome 29073 Kahler's disease →324737 Kahrizi syndrome 2324 Kaler-Garrity-Stern syndrome 2325 Kallin syndrome 478 Kallmann syndrome 2326 Kallmann syndrome - heart disease 99179 Kandori fleck retina 1836 Kantaputra mesomelic dysplasia 79280 Kanzaki disease 949 Kaplan-Plauchu-Fitch syndrome 2244 Kaplowitz-Bodurtha syndrome 33276 Kaposi sarcoma Kaposiform 2122 hemangioendothelioma Kappa light chain-associated 91136 Fanconi syndrome 2328 Kapur-Toriello syndrome Karandikar-Maria-Kamble 1381 syndrome 2329 Karsch-Neugebauer syndrome 98861 Kartagener syndrome 401996 Karyomegalic interstitial nephritis 2330 Kasabach-Merritt syndrome Kasznica-Carlson-Coppedge 1894 syndrome Katsantoni-Papadakou Lagoyanni 3360 syndrome 2473 Kaufman-Mckusick syndrome 2331 Kawasaki disease 2306 Kawashima syndrome 2533 Kawashima-Tsuji syndrome 2332 KBG syndrome 96169 KdVS 480 Kearns-Sayre syndrome 199260 Keasby tumor 2662 Keipert syndrome 85435 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 85 ORPHA Disease name number 79233 Kelley-Seegmiller syndrome 137653 Kelly-Kirson-Wyatt syndrome 54028 Kelly-Paterson syndrome 481 64542 2333 2333 101336 101336 477 79395 494 79395 420686 79501 50943 495 218 2339 2340 281201 86919 678 28378 50944 2342 79141 50942 50942 495 87503 50942 Kennedy disease Kennedy-Teebi syndrome Kenny syndrome Kenny-Caffey syndrome Kenya tick typhus Kenya tick-bite fever Keratitis - ichthyosis deafness/Hystrix-like ichthyosis deafness Keratoderma - ichthyosiform dermatosis - elevated betaglucuronidase Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans with ichthyosis Keratoderma with woolly hair type IV Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type Keratolytic winter erythema Keratosis extremitatum hereditaria progrediens Keratosis follicularis Keratosis follicularis - dwarfism cerebral atrophy Keratosis follicularis spinulosa decalvans Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis palmaris et plantaris clinodactyly Keratosis palmoplantar periodontopathy Keratosis palmoplantaris - corneal dystrophy Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis Keratosis palmoplantaris periodontopathia - onychogryposis Keratosis palmoplantaris nummularis Keratosis palmoplantaris striata Keratosis palmoplantaris striata et areata Keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris transgrediens of Siemens Keratosis palmoplantaris varians of Wachters ORPHA number 34217 2198 499 415286 3351 293807 1399 2056 35 85202 2988 98841 477 477 97332 50918 50918 482 401996 2908 99741 565 565 1183 100996 98673 99978 261494 96147 96147 261652 96147 96147 896 33543 2110 399081 281201 2345 2345 90308 2346 157823 Disease name Keratosis palmoplantaris with arrythmogenic cardiomyopathy Keratosis palmoplantarisesophageal carcinoma syndrome Kerion celsi Kernicterus Kersey syndrome Ketamine-induced biliary dilatation Ketoaciduria - intellectual disability - ataxia - deafness Ketohexokinase deficiency Ketotic hyperglycinemia Keutel syndrome Khalifa-Graham syndrome Ki-1 positive anaplastic large cell lymphoma KID syndrome KID/HID syndrome Kienbock disease Kikuchi disease Kikuchi-Fujimoto disease Kimura disease KIN Kindler syndrome King-Denborough syndrome Kinky hair disease Kinky hair syndrome Kinsbourne syndrome Kjellin syndrome Kjer disease Klatskin tumor Kleefstra syndrome Kleefstra syndrome due to 9q subtelomeric deletion Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to a point mutation Kleefstra syndrome due to del(9)(q34) Kleefstra syndrome due to monosomy 9q34 Klein-Waardenburg syndrome Kleine-Levin syndrome Kleiner-Holmes syndrome KLHL9-related childhood-onset distal myopathy KLICK syndrome Klippel-Feil malformation Klippel-Feil sequence Klippel-Trénaunay syndrome Klippel-Trénaunay-Weber syndrome Klüver-Bucy syndrome ORPHA Disease name number 485 Kniest dysplasia 1571 Knobloch syndrome 1571 Knobloch-Layer syndrome 2698 2698 2349 1946 3197 51890 99077 3212 96169 363965 2892 2839 99749 1129 99741 2351 629 2352 3082 2204 487 206436 206436 206443 1345 709 709 284149 89838 2908 293936 306674 79262 83419 →1487 2505 1219 1149 2798 319254 Knuckle pads-leukonychiasensorineural deafnesspalmoplantar hyperkeratosis syndrome Knuckle pads-leukonychiasensorineural deafnesspalmoplantar keratoderma syndrome Kocher-Debré-Semelaigne syndrome Kohlschutter-Tonz syndrome Kok disease Komar syndrome Kommerell diverticulum Konigsmark-Knox-Hussels syndrome Koolen-De Vries syndrome Koolen-De Vries syndrome due to a point mutation Kopysc-Barczyk-Krol syndrome Kosenow syndrome Kostmann syndrome Kosztolanyi syndrome Koussef-Nichols syndrome Kousseff syndrome Kowarski syndrome Kozlowski-Brown-Hardwick syndrome Kozlowski-Krajewska syndrome Kozlowski-Tsuruta syndrome Krabbe disease Krabbe disease, classic form Krabbe disease, early-onset Krabbe disease, late-onset Krasnow-Qazi syndrome Krause-Kivlin syndrome Krause-van Schooneveld-Kivlin syndrome Kreiborg-Pakistani syndrome KRT14-related epidermolysis bullosa simplex KS KTCNCT Kufor-Rakeb syndrome Kufs disease Kugelberg-Welander disease Kumar-Levick syndrome Kunze-Riehm syndrome Kurczynski-Casperson syndrome Kuskokwim disease Kuzniecky syndrome Kyasanur forest disease → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 86 ORPHA Disease name number 319254 Kyasanur hemorrhagic fever 79155 Kynureninase deficiency 1801 Kyphomelic dysplasia 2764 679 679 767 275543 275543 79314 79314 79314 35704 157973 156 156 93599 216694 83483 53696 3473 2363 2363 284426 284435 2965 2968 99844 99842 99843 99844 2363 1484 158687 501 1997 59135 275761 538 306507 1296 43393 98995 313 137871 137871 Kônig disease Köhlmeier-Degos disease Köhlmeier-Degos-Delort-Tricort syndrome Küssmaul-Maier disease L1 syndrome L1CAM syndrome L-2-HGA L-2-hydroxyglutaric acidemia L-2-hydroxyglutaric aciduria L-Arginine:glycine amidinotransferase deficiency L-CMD L-CPT1 deficiency L-CPTI deficiency L-glyceric aciduria L-transposition of the great arteries La Crosse encephalitis LAAHD Laband syndrome Lacrimoauriculodentodigital syndrome Lacrimoauriculoradiodental syndrome Lactate dehydrogenase A deficiency Lactate dehydrogenase B deficiency Lactotroph adenoma LAD LAD-1 variant LAD-I LAD-II LAD-III LADD syndrome Ladda-Zonana-Ramer syndrome LAEB Lafora disease Lagophthalmia - cleft lip and palate Laing early-onset distal myopathy LAL deficiency LAM LAMB2-related infantile-onset nephrotic syndrome Lambert syndrome Lambert-Eaton myasthenic syndrome Lamellar cataract Lamellar ichthyosis Laminopathy type DecaudainVigouroux Laminopathy with severe metabolic syndrome and myopathy ORPHA Disease name number 90024 LAMM syndrome 98818 Landau-Kleffner syndrome 354 Landing disease 269 Landouzy-Dejerine myopathy 231031 Lane disease 2632 Langer mesomelic dysplasia 502 86897 2368 2654 2363 98838 626 633 220465 220465 633 2370 284139 2808 2375 2407 100083 2407 2004 2005 280205 93938 93939 93940 93941 2004 2372 137935 1202 99824 99824 98974 157716 Langer-Giedion syndrome Langerhans cell sarcoma Laparoschisis Laplane-Fontaine-Lagardere syndrome LARD syndrome Large cell lymphoma of the mediastinum Large congenital melanocytic nevus Laron syndrome Laron syndrome with immunodeficiency Laron-like syndrome Laron-type dwarfism Larsen-like osseous dysplasia short stature Larsen-like syndrome, B3GAT3 type Laryngeal abductor paralysis Laryngeal abductor paralysis intellectual disability Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Laryngeal endocrine tumor Laryngo-onycho-cutaneous syndrome Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft pulmonary hypoplasia Laryngo-tracheo-esophageal cleft type 0 Laryngo-tracheo-esophageal cleft type 1 Laryngo-tracheo-esophageal cleft type 2 Laryngo-tracheo-esophageal cleft type 3 Laryngo-tracheo-esophageal cleft type 4 Laryngo-tracheo-esophageal diastema Laryngocele Laryngotracheal angioma Larynx atresia Lassa fever Lassa hemorrhagic fever Late hereditary endothelial dystrophy Late infantile CACH syndrome ORPHA Disease name number 168491 Late infantile NCL 168491 98816 79256 206443 247573 247573 399058 98912 228227 163708 199299 79406 231556 79241 93589 67042 2789 141136 46059 98964 98964 99094 2398 2377 2378 79086 79086 2379 137898 2369 2004 99900 650 1486 137776 137783 98964 93558 98964 5 5 52416 626 363618 65285 Late infantile neuronal ceroid lipofuscinosis Late onset benign childhood occipital epilepsy Late-infantile GM1 gangliosidosis Late-infantile/juvenile Krabbe disease Late-onset citrullinemia type 1 Late-onset citrullinemia type I Late-onset distal crystallinopathy Late-onset distal myopathy, Markesbery-Griggs type Late-onset focal dermal elastosis Late-onset infantile spasms Late-onset isolated ACTH deficiency Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa - intellectual disability Late-onset multiple carboxylase deficiency Late-onset nephronophthisis Late-onset retinal degeneration Lateral meningocele syndrome Laterofacial microsomia Lathosterolosis Lattice corneal dystrophy type 1 Lattice corneal dystrophy type I Laubry-Pezzi syndrome Launois-Bensaude lipomatosis Laurence-Moon syndrome Laurin-Sandrow syndrome Lawrence syndrome Lawrence-Seip syndrome Laxova-Opitz syndrome LBSL LBWC syndrome LC LCAD LCAT deficiency LCCS1 LCCS2 LCCS3 LCD1 LCDD LCDI LCHAD deficiency LCHADD LCM LCMN LCPS LDD → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 87 ORPHA Disease name number 2364 LDH deficiency 284435 LDH-H subunit deficiency 284426 LDH-M subunit deficiency 2616 330015 330015 3246 65 104 190 104 99718 98955 650 199251 71273 99111 99111 99111 54260 54260 99095 1757 2380 549 549 137605 2789 1647 255241 70474 255249 3008 3008 3008 70474 255241 255249 70472 Le Merrer syndrome Lead intoxication Lead poisoning Learman syndrome Leber congenital amaurosis Leber hereditary optic neuropathy Leber miliary aneurysm Leber optic atrophy Leber plus disease LECD Lecithin-cholesterol acyltransferase deficiency Ledderhose disease Left renal vein entrapment syndrome Left superior caval vein persisting to left-sided atrium Left superior vena cava persisting to left-sided atrium Left SVC persisting to left-sided atrium Left ventricular hypertrabeculation Left ventricular noncompaction Left ventricular-to-right atrial communication Leg duplication - mirror foot Legg-Calvé-Perthes disease Legionellosis Legionnaires' disease Legius syndrome Lehman syndrome Leichtman-Wood-Rohn syndrome Leigh disease with leukodystrophy Leigh disease with myopathy Leigh disease with nephrotic syndrome Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency Leigh syndrome due to PC deficiency Leigh syndrome due to pyruvate carboxylase deficiency Leigh syndrome with cardiomyopathy Leigh syndrome with leukodystrophy Leigh syndrome with nephrotic syndrome Leigh syndrome, French-Canadian type ORPHA number 70472 314 71274 64720 104076 213807 213625 507 140936 137839 137839 2382 209959 209959 209959 568 2658 500 330032 508 548 252031 268838 509 2900 510 158687 314718 53696 1187 1420 1421 1486 137776 137783 330050 1972 1046 254857 Disease name Leigh syndrome, Saguenay-LacSaint-Jean type Leiner disease Leiomyomatosis peritonealis disseminate Leiomyosarcoma Leiomyosarcoma of small intestine Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri Leishmaniasis Lelis syndrome Lemierre postanginal sepsis Lemierre syndrome Lennox-Gastaut syndrome Lens-induced endophthalmitis Lens-induced iridocyclitis Lens-induced uveitis Lenz microphthalmia Lenz-Majewski hyperostotic dwarfism LEOPARD syndrome Lepore - beta-thalassemia Leprechaunism Leprosy Leptomeningeal melanomatosis Leptomyelolipoma Leptospirosis Leri pleonosteosis Lesch-Nyhan syndrome Lethal acantholytic epidermolysis bullosa Lethal arteriopathy syndrome due to fibulin-4 deficiency Lethal arthrogryposis - anterior horn cell disease Lethal ataxia with deafness and optic atrophy Lethal chondrodysplasia, Moerman type Lethal chondrodysplasia, Seller type Lethal congenital contracture syndrome type 1 Lethal congenital contracture syndrome type 2 Lethal congenital contracture syndrome type 3 Lethal encephalopathy due to mitochondrial and peroxisomal fission defect Lethal faciocardiomelic dysplasia Lethal hemolytic anemia - genital anomalies Lethal infantile mitochondrial disease ORPHA number 254857 2347 2371 86879 33108 300313 293925 2736 216804 1832 210144 1234 1423 1662 79022 99870 58017 300878 2968 99842 99843 99844 99844 77295 137639 163684 83629 314051 139444 137898 137898 Disease name Lethal infantile mitochondrial myopathy Lethal Kniest-like dysplasia Lethal Larsen-like syndrome Lethal midline granuloma Lethal multiple pterygium syndrome Lethal neurodegenerative disorder due to copper transport defect Lethal occipital encephaloceleskeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Lethal osteogenesis imperfecta Lethal osteosclerotic bone dysplasia Lethal polymalformative syndrome, Boissel type Lethal popliteal pterygium syndrome Lethal recessive chondrodysplasia Lethal restrictive dermopathy Lethal variant of Simpson-GolabiBehmel syndrome Letterer-Siwe disease Leukemic reticuloendotheliosis Leukemic reticuloendotheliosis variant Leukocyte adhesion deficiency Leukocyte adhesion deficiency type I Leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type III Leukocyte adhesion deficiency-1 variant Leukodystrophy with oligodontia Leukoencephalopathy - ataxia hypodontia - hypomyelination Leukoencephalopathy - dystonia motor neuropathy Leukoencephalopathy metaphyseal chondrodysplasia Leukoencephalopathy - thalamus and brainstem anomalies - high lactate Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement high lactate Leukoencephalopathy with brain stem and spinal cord involvement lactate elevation → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 88 ORPHA number Disease name Leukoencephalopathy with mild 363540 cerebellar ataxia and white matter 135 2386 1816 2387 210133 2045 79507 2743 2388 216694 95854 95854 2363 302 →1896 48162 755 96265 96265 96265 96265 325448 325448 96266 96266 96266 96266 99824 266 264 265 edema Leukoencephalopathy with vanishing white matter Leukoencephalopathypalmoplantar keratoderma syndrome Leukomelanoderma - intellectual disability - hypotrichosis Leukonychia totalis Leukonychia totalis - acanthosisnigricans-like lesions - abnormal hair Leukonychia totalis - trichilemmal cysts - ciliary dystrophy Leukotriene C4 synthase deficiency Levic-Stefanovic-Nikolic syndrome Levine-Critchley syndrome Levo-transposition of the great arteries Levocardia Levocardia-situs inversus Levy-Hollister syndrome Lewandowsky-Lutz syndrome Lewis-Pashayan syndrome Lewis-Sumner syndrome Leydig cell hypoplasia Leydig cell hypoplasia due to complete LH receptor inactivation Leydig cell hypoplasia due to complete LH resistance Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Leydig cell hypoplasia due to partial LH receptor inactivation Leydig cell hypoplasia due to partial LH resistance Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance LF LGMD1A LGMD1B LGMD1C ORPHA number 34516 LGMD1D 34517 LGMD1E 55595 LGMD1F 55596 Disease name LGMD1G 238755 LGMD1H 267 LGMD2A 268 353 62 119 219 34514 1878 34515 140922 86812 206549 206554 206559 206564 280333 254361 363543 369840 363623 352479 93557 65285 104 313 524 49804 49804 525 525 254395 525 254478 254463 254463 254463 254395 254395 254395 2390 526 1275 99812 99812 93557 93558 85443 97231 LGMD2B LGMD2C LGMD2D LGMD2E LGMD2F LGMD2G LGMD2H LGMD2I LGMD2J LGMD2K LGMD2L LGMD2M LGMD2N LGMD2O LGMD2P LGMD2Q LGMD2R LGMD2S LGMD2T LGMD2U LHCDD Lhermitte-Duclos disease LHON LI Li-Fraumeni syndrome Lichen amyloidosis Lichen amyloidosus Lichen follicularis Lichen planopilaris Lichen planus actinus Lichen planus follicularis Lichen planus pemphigoides Lichen planus pigmentosa Lichen planus pigmentosus Lichen planus pigmentosus inversus Lichen planus subtropicus Lichen planus tropicus Lichenoid melanodermatitis Lichstenstein syndrome Liddle syndrome Liebenberg syndrome LIG4 syndrome Ligase 4 syndrome Light and heavy chain deposition disease Light chain deposition disease Light-chain amyloidosis Ligneous conjunctivitis ORPHA Disease name number 2369 Limb body wall complex 2492 974 86812 62 119 267 265 219 268 34515 353 264 266 34514 1878 257 52430 69085 171673 83467 276402 329341 329341 329341 163908 163908 217253 163914 Limb transversal defect - cardiac anomaly Limb, scalp and skull defects Limb-girdle muscular dystrophy intellectual disability Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to calpain deficiency Limb-girdle muscular dystrophy due to caveolin-3 deficiency Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Limb-girdle muscular dystrophy due to dysferlin deficiency Limb-girdle muscular dystrophy due to FKRP deficiency Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Limb-girdle muscular dystrophy due to lamin A/C deficiency Limb-girdle muscular dystrophy due to myotilin deficiency Limb-girdle muscular dystrophy due to telethonin deficiency Limb-girdle muscular dystrophy due to TRIM32 deficiency Limb-girdle muscular dystrophy with epidermolysis bullosa simplex Limb-girdle muscular dystrophy with Paget disease of bone Limb-mammary syndrome Limbal stem cell deficiency Limbic encephalitis neuromyotonia - hyperhidrosis polyneuropathy Limbic encephalitis with caspr2 antibodies Limbic encephalitis with dipeptidylpeptidase 6 antibodies Limbic encephalitis with DPP6 antibodies Limbic encephalitis with DPPX antibodies Limbic encephalitis with leucinerich glioma-inactivated 1 antibodies Limbic encephalitis with LGI1 antibodies Limbic encephalitis with N-methylD-aspartate receptor antibodies Limbic encephalitis with nCMAgs antibodies → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 89 ORPHA number 217253 163914 254857 366 220402 220402 220407 168491 892 3077 79150 140933 228236 2611 46488 254379 254379 2612 2611 36273 888 77243 255182 528 156156 247762 50811 3163 1979 401859 139436 530 36397 238593 812 268835 329481 69078 238593 401862 98955 2400 101003 Disease name Limbic encephalitis with NMDA receptor antibodies Limbic encephalitis with novel Cell Membrane Antigens antibodies LIMD Limit dextrinosis Limited cutaneous systemic scleroderma Limited cutaneous systemic sclerosis Limited systemic sclerosis LINCL Lindau disease Lindsay-Burn syndrome Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear focal dermal elastosis Linear hamartoma syndrome Linear IgA dermatosis Linear lichen planus Linear LP Linear nevus sebaceus syndrome Linear verrucous nevus syndrome Linitis plastica of the stomach Lip-pit syndrome Lipedema Lipoamide dehydrogenase deficiency Lipoatrophic diabetes Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Lipoblastoma Lipodystrophy - intellectual disability - deafness Lipodystrophy - Rieger anomaly diabetes Lipodystrophy due to peptidic growth factors deficiency Lipoic acid synthetase deficiency Lipoid dermatoarthritis Lipoid proteinosis Lipomatosis dolorosa Lipomatous mesenteritis Lipomucopolysaccharidosis Lipomyelomeningocele Lipoprotein glomerulopathy Liposarcoma Liposclerotic mesenteritis Lipoyl transferase 1 deficiency Lisch epithelial corneal dystrophy Lisker-Garcia-Ramos syndrome Lison syndrome ORPHA number 531 95232 171680 89844 2148 352682 352682 86821 86822 100011 100012 100013 100014 100015 100016 533 1680 820 820 79095 369 98818 363618 157973 33108 69085 93924 666 2440 2407 314709 93685 263534 79400 Disease name Lissencephaly due to 17p13.3 deletion Lissencephaly due to LIS1 mutation Lissencephaly due to TUBA1A mutation Lissencephaly syndrome, NormanRoberts type Lissencephaly type 1 due to doublecortin gene mutation Lissencephaly type 2 without muscular or eye involvement Lissencephaly type 2 without muscular or ocular involvement Lissencephaly type 3 - familial fetal akinesia sequence Lissencephaly type 3 - metacarpal bone dysplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type F Listeriosis Little syndrome Livedo racemosa and cerebrovascular accidents Livedo reticularis and cerebrovascular accidents Liver disease - retinitis pigmentosa polyneuropathy - epilepsy Liver glycogen phosphorylase deficiency LKS LMNA-related cardiocutaneous progeria syndrome LMNA-related congenital muscular dystrophy LMPS LMS Lobar holoprosencephaly Lobstein disease Lobster-claw deformity LOC syndrome Localized AL amyloidosis Localized Castleman disease Localized deciduous skin Localized epidermolysis bullosa simplex ORPHA Disease name number 90289 Localized fibrosing scleroderma 314709 251393 90398 90399 178517 263534 163927 90289 2406 75566 60030 2407 250831 250831 250831 2404 5 99900 3363 90647 65283 65283 180157 52054 168 411602 2832 2266 67042 79395 803 100 171215 2621 251633 69663 140949 1652 534 Localized immunoglobulinic amyloidosis Localized junctional epidermolysis bullosa, non-Herlitz type Localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized pagetoid reticulosis Localized PSS Localized pustular psoriasis Localized scleroderma Locked-in syndrome Loeffler endocarditis Loeys-Dietz syndrome LOGIC syndrome Logopenic primary progressive aphasia Logopenic progressive aphasia Logopenic variant PPA Loiasis Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long chain acyl-CoA dehydrogenase deficiency Long eyelashes - intellectual disability Long QT interval - deafness Long QT syndrome - syndactyly Long QT syndrome type 8 Longitudinal vaginal septum Longman-Tolmie syndrome Loose anagen syndrome LOPD Lopes-Gorlin syndrome Lopes-Marques de Faria syndrome LORD Loricrin keratoderma Lou Gehrig disease Louis-Bar syndrome Low anorectal malformation Low birth weight - dwarfism dysgammaglobulinemia Low grade ependymoma Low phospholipid associated cholelithiasis Low-flow priapism Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Lowe disease → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 90 ORPHA number 534 534 2408 363447 363454 209341 2487 295051 141064 276435 844 1533 2409 1824 2003 254478 254463 254463 250831 71274 329481 470 309015 163927 525 37553 65283 314051 79507 2004 280205 93938 93939 93940 93941 93938 93939 93940 93941 53351 53351 2575 2410 Disease name Lowe oculo-cerebro-renal syndrome Lowe syndrome Lowe-Kohn-Cohen syndrome Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures Lower limb deficiency hypospadias Lower limb hypertrophy Lower lip fistula Lower motor neuron syndrome with late-adult onset Lown-Ganong-Levine syndrome Lowry syndrome Lowry-MacLean syndrome Lowry-Wood syndrome Lowry-Yong syndrome LP pemphigoides LP pigmentosa LP pigmentosus LPA LPD LPG LPI LPL deficiency LPP LPP LQT7 LQT8 LTBL LTC4 synthase deficiency LTEC LTEC0 LTEC1 LTEC2 LTEC3 LTEC4 LTEC I LTEC II LTEC III LTEC IV Lubag Lubag syndrome Lubani-Al Saleh-Teebi syndrome Lubinsky syndrome ORPHA Disease name number 85281 Lubs-Arena Syndrome 2312 Lucey-Driscoll syndrome 776 Lujan syndrome 776 Lujan-Fryns syndrome ORPHA Disease name number 79128 Lymphoid interstitial pneumonia 86869 Lymphomatoid granulomatosis 98842 Lymphomatoid papulosis 329998 Lymphomatous meningitis 319213 Lujo hemorrhagic fever 268388 Lumbosacral spina bifida aperta 178528 268758 Lumbosacral spina bifida cystica 97332 Lunatomalacia 33226 Lundberg syndrome Lung agenesis - heart defect 1120 thumb anomalies Lung fibrosis - immunodeficiency 137631 46,XX gonadal dysgenesis 90285 Lupus erythematosus panniculitis 90285 Lupus erythematosus profundus 90283 Lupus erythematosus tumidus Luteinizing hormone-releasing 1173 hormone deficiency with ataxia Lutz-Lewandowsky 302 epidermodysplasia verruciformis 3438 Lutz-Richner-Landolt syndrome 54260 LVNC 537 Lyell syndrome 86869 LYG 91546 Lyme borreliosis 91546 Lyme disease 538 Lymphangioleiomyomatosis 2035 Lymphatic filariasis Lymphedema - atrial septal defects 86915 - facial changes Lymphedema - cerebral 86914 arteriovenous anomaly 86917 Lymphedema - cleft palate 33001 Lymphedema - distichiasis Lymphedema - hypoparathyroidism 1563 syndrome Lymphedema - lymphangiectasia 2136 intellectual disability →33001 Lymphedema - ptosis →289825 Lymphedema praecox →289825 Lymphedema tarda 662 Lymphedema with yellow nails Lymphoadenopathic mastocytosis 158793 with eosinophilia Lymphoblastoid variant of NK-cell 86870 lymphoma 65279 Lymphocytic colitis Lymphocytic hypereosinophilic 314970 syndrome 79128 Lymphocytic interstitial pneumonia 314970 Lymphocytic variant HES 289682 Lymphoepithelial-like carcinoma 86886 Lymphogranulomatosis X 314970 Lymphoid HES 2928 67038 33226 280302 67038 1123 3196 98842 2203 470 275761 61 309288 309282 34587 79284 93561 90020 240 240 330041 247262 98938 2083 36412 36412 2220 98757 98757 276238 276241 276244 319229 79495 1574 2477 Lymphome agressif épidermotrope type Berti Lymphoplasmacytic immunocytoma Lymphoplasmacytic leukemia Lymphoplasmacytic lymphoma Lymphoplasmacytic sclerosing pancreatitis Lymphoplasmacytoid immunocytoma Lynch-Lee-Murday syndrome Lyngstadaas syndrome LyP Lysine alpha-ketoglutarate reductase deficiency Lysinuric protein intolerance Lysosomal acid lipase deficiency Lysosomal alpha-D-mannosidase deficiency Lysosomal alpha-D-mannosidase deficiency, adult form Lysosomal alpha-D-mannosidase deficiency, infantile form Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal membrane cobalamin transporter deficiency Lysozyme amyloidosis Lytico-Bodig disease Léri-Weill dyschondrosteosis Léri-Weill syndrome M hemoglobinopathy Mabry syndrome MAC Mac Dermot-Winter syndrome Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie syndrome MacDermot-Patton-Williams syndrome Machado disease Machado-Joseph disease Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Machupo hemorrhagic fever Macias Flores-Garcia Cruz-Rivera syndrome Mackay-Shek-Carr syndrome Macrencephaly → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 91 ORPHA number Disease name Macroblepharon - ectropion 357158 hypertelorism - macrostomia 217335 60040 94061 2427 2429 210548 60040 397612 2563 79489 79489 295044 295241 295239 295047 295245 295243 295044 295241 295239 295047 295245 295243 158061 592 2432 2563 141276 83619 807 220448 217335 137814 91494 98969 syndrome Macrocephaly - alopecia - cutis laxa - scoliosis Macrocephaly - cutis marmorata telangiectatica congenita Macrocephaly - immune deficiency - anemia Macrocephaly - short stature paraplegia Macrocephaly - spastic paraplegia dysmorphism Macrocephaly-autism syndrome Macrocephaly-capillary malformation syndrome Macrocephaly-developmental delay syndrome Macrocephaly-obesity-mental disability-ocular abnormalities syndrome Macrocystic lymphangioma Macrocystic lymphatic malformation Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of foot Macrodactyly of foot, bilateral Macrodactyly of foot, unilateral Macrodactyly of hand Macrodactyly of hand, bilateral Macrodactyly of hand, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Macrophage activation syndrome Macrophagic myofasciitis Macrosomia - microphthalmia cleft palate Macrosomia-obesity-macrocephalyocular abnormalities syndrome Macrostomia Macrostomia - preauricular tags external ophthalmoplegia Macrothrombocytopenia with leukocyte inclusions Macrothrombocytopenia with mitral valve insufficiency MACS syndrome Macular amyloidosis Macular coloboma - cleft palate hallux valgus Macular corneal dystrophy ORPHA number Disease name Maculopapular cutaneous mastocytosis 90287 Maculopapular lupus rash 2457 MAD 26791 MAD deficiency 26791 MADD 35688 Madelung deformity 295223 Madelung deformity, bilateral 295221 Madelung deformity, unilateral 2398 Madelung disease 137867 Madras motor neuron disease 48162 MADSAM 2583 Madura foot 1942 MAE Mae infertility due to round171709 headed spermatozoa 199354 Maeda syndrome 163634 Maffucci syndrome 324972 MAGIC syndrome 77297 Majeed syndrome Majewski osteodysplastic 2637 primordial dwarfism type II 70470 Major hyperlipidemia 210272 Mal de débarquement 87503 Mal de Meleda 556 Malakoplakia 420179 Malan overgrowth syndrome 673 Malaria 75376 Malattia leventinese Male EBP disorder with 401973 neurological defects Male hypergonadotropic 2234 hypogonadism - intellectual disability - skeletal anomalies Male infertility due to 171709 globozoospermia Male infertility due to large-headed 137893 multiflagellar polyploid spermatozoa Male infertility due to NANOS1 →399808 mutation Male infertility with azoospermia or 399805 oligozoospermia due to single gene mutation Male infertility with normal 217034 virilization due to maturation arrest Male infertility with normal →399805 virilization due to meiosis defect Male infertility with 399808 teratozoospermia due to single gene mutation Male pseudohermaphroditism due 753 to 5-alpha-reductase 2 deficiency 79457 ORPHA number 752 755 755 1646 3000 99915 289385 98839 679 99912 276145 213837 213751 423 423 2215 168999 293181 293181 213512 213610 213787 3148 3148 206538 99912 3286 252128 3148 252212 Disease name Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Male pseudohermaphroditism due to LH resistance or LHB deficiency Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency Male sterility due to chromosome Y deletion Male-limited precocious puberty Maligant granulosa cell tumor of ovary Malignancy diagnosed during pregnancy Malignant angioendotheliomatosis Malignant atrophic papulosis Malignant dysgerminomatous germ cell tumor of ovary Malignant epithelial tumor of salivary glands Malignant germ cell tumor of cervix uteri Malignant germ cell tumor of corpus uteri Malignant hyperpyrexia Malignant hyperthermia Malignant hyperthermia arthrogryposis - torticollis Malignant melanoma of the mucosa Malignant migrating partial epilepsy of infancy Malignant migrating partial seizures of infancy Malignant mixed epithelial mesenchymal tumor of ovary Malignant mixed müllerian tumor of corpus uteri Malignant müllerian mixed tumor of cervix uteri Malignant neurilemmoma Malignant neurofibroma Malignant non-dysgerminomatous germ cell tumor of ovary Malignant ovarian dysgerminoma Malignant paroxysmal ventricular tachycardia Malignant perineurioma Malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 92 ORPHA number Disease name Malignant peripheral 213812 neuroectodermal tumor of cervix uteri Malignant peripheral 213630 neuroectodermal tumor of corpus uteri 168811 Malignant peritoneal mesothelioma 69077 Malignant rhabdoid tumor 3148 Malignant schwannoma Malignant Sertoli-Leydig cell tumor 99916 of ovary 398987 Malignant teratoma of ovary 99868 Malignant thymoma 252212 Malignant triton tumor 180242 Malignant tubal tumor 180242 Malignant tumor of fallopian tubes 943 Malonic aciduria Malonyl-CoA decarboxylase 943 deficiency 2229 Malouf syndrome 99090 Malposition of the coronary ostium 2453 Malpuech facial clefting syndrome →293843 Malpuech syndrome 52417 MALT lymphoma 103907 Maltase-glucoamylase deficiency 52417 MALToma 50920 Mammary polyadenomatosis 238744 Mammary-digital-nail syndrome 397941 MAN1B1-CDG Man5GlcNAc2-PP-Dol flippase 244310 deficiency Mandibular arteriovenous 141174 malformation Mandibular hypoplasia-deafness363649 progeroid syndrome Mandibulfacial dysostosis with 246 postaxial limb anomalies Mandibulo-palpebral synkinesis 91412 ptosis 2457 Mandibuloacral dysplasia Mandibuloacral dysplasia with type 90153 A lipodystrophy Mandibuloacral dysplasia with type 90154 B lipodystrophy Mandibulofacial dysostosis 357158 macroblepharon - macrostomia Mandibulofacial dysostosis with 245 preaxial limb anomalies Mandibulofacial dysostosis without 861 limb anomalies Mandibulofacial dysostosis, Guion79113 Almeida type Mandibulofacial dysostosis, Toriello 1131 type ORPHA number 79113 306682 306682 306682 2717 79327 79326 79321 79328 79324 2459 2459 52416 52416 511 3013 2785 228157 99826 99826 221074 447 91412 91412 2461 2460 1120 558 284963 284973 2462 97295 314041 2463 2464 →3253 444 444 101104 559 2717 2717 583 Disease name Mandibulofacial dysostosismicrocephaly syndrome Manganese intoxication Manganese poisoning Manganism Manitoba oculotrichoanal syndrome Mannosyltransferase 1 deficiency Mannosyltransferase 2 deficiency Mannosyltransferase 6 deficiency Mannosyltransferase 7-9 deficiency Mannosyltransferase 8 deficiency Mansonelliasis Mansonellosis Mantle cell lymphoma Mantle zone lymphoma Maple syrup urine disease Marashi-Gorlin syndrome Marble brain disease Marburg acute multiple sclerosis Marburg hemorrhagic fever Marburg virus disease Marchiafava-Bignami disease Marchiafava-Micheli disease Marcus-Gunn phenomenon Marcus-Gunn syndrome Marden-Walker syndrome Marden-Walker-like syndrome Mardini--Nyhan syndrome Marfan syndrome Marfan syndrome type 1 Marfan syndrome type 2 Marfanoid craniosynostosis syndrome Marfanoid habitus craniosynostosis syndrome Marfanoid habitus - inguinal hernia - advanced bone age Marfanoid habitus - intellectual disability, autosomal recessive Marfanoid syndrome, De Silva type Margarita island ectodermal dysplasia Marie Unna congenital hypotrichosis Marie Unna hereditary hypotrichosis Marin-Amat syndrome Marinesco-Sjögren syndrome Marles syndrome Marles-Greenberg-Persaud syndrome Maroteaux-Lamy disease ORPHA number Disease name Maroteaux-Le Merrer-Bensahel syndrome Maroteaux-Stanescu-Cousin 1423 syndrome Maroteaux-Verloes-Stanescu 1040 syndrome 101337 Marseilles fever 560 Marshall syndrome Marshall syndrome with periodic 42642 fever 561 Marshall-Smith syndrome 908 Martin-Bell syndrome 85321 Martin-Probst syndrome 1387 Martsolf syndrome →293864 Martínez-Frías syndrome 2466 MASA syndrome →284963 MASS syndrome 66661 Mast cell sarcoma 101001 Mast syndrome Mastocytosis - short stature 2135 hearing loss 3282 MAT 168598 MAT deficiency 168598 MAT I/III deficiency Maternal 14q32.2 254534 hypermethylation syndrome Maternal 14q32.2 microdeletion 254528 syndrome Maternal anti-Kell 275944 alloimmunization 254528 Maternal del(14)(q32.2) 2209 Maternal hyperphenylalaninemia Maternal hyperthermia induced 2216 birth defects 254528 Maternal monosomy 14q32.2 2209 Maternal phenylketonuria 2209 Maternal PKU 411712 Maternal riboflavin deficiency Maternal uniparental disomy of 251009 chromosome 1 Maternal uniparental disomy of 96179 chromosome 2 Maternal uniparental disomy of 96180 chromosome 4 Maternal uniparental disomy of 96181 chromosome 6 Maternal uniparental disomy of 96183 chromosome 9 Maternal uniparental disomy of 97678 chromosome 13 Maternal uniparental disomy of 96184 chromosome 14 Maternal uniparental disomy of 96185 chromosome 16 2767 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 93 ORPHA number Disease name Maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of 96187 chromosome 21 Maternal uniparental disomy of 96188 chromosome 22 Maternal uniparental disomy of 261519 chromosome X Maternally-inherited 1349 cardiomyopathy and deafness Maternally-inherited 1349 cardiomyopathy and hearing loss Maternally-inherited chronic 663 progressive external ophthalmoplegia 663 Maternally-inherited CPEO Maternally-inherited diabetes and 225 deafness Maternally-inherited infantile 255210 subacute necrotizing encephalopathy 255210 Maternally-inherited Leigh disease Maternally-inherited Leigh 255210 syndrome Maternally-inherited mitochondrial 254851 dystonia Maternally-inherited progressive 663 external ophthalmoplegia Maternally-inherited spastic 320360 paraplegia 320360 Maternally-inherited SPG 2015 Mathieu-De Broca-Bony syndrome 2470 Matthew-Wood syndrome Maturity-onset diabetes of the 552 young 293603 Maumenee corneal dystrophy Maxillary arteriovenous 141171 malformation 1248 Maxillonasal dysostosis 1248 Maxillonasal dysplasia 850 May-Hegglin anomaly 850 May-Hegglin syndrome →182050 May-Hegglin thrombocytopenia Mayer-Rokitansky-Küster-Hauser 3109 syndrome Mayer-Rokitansky-Küster-Hauser 247775 syndrome type 1 Mayer-Rokitansky-Küster-Hauser 2578 syndrome type 2 57782 Mazabraud syndrome 91138 MC 71529 MC4R deficiency 93554 MC type II 93555 MC type III 96186 ORPHA number 254519 42 42 300496 2640 60040 368 79140 6 85195 6 562 93686 98969 1851 2471 1557 75327 319640 36412 36412 308425 158668 2473 52416 59306 60040 60040 77298 85275 178364 139471 2556 3434 2470 77299 2512 2001 2999 228418 59 809 523 565 273 258 98893 52428 98894 210272 210272 Disease name MCA due to 14q32.2 maternally expressed gene defect MCAD deficiency MCADD MCAHS type 2 McAlister-Crane syndrome MCAP McArdle disease MCC MCC deficiency McCabe's disease MCCD McCune-Albright syndrome MCD MCD MCDK McDonough syndrome McDowall syndrome MCDR1 MCDR2 McDuffie hypocomplementemic urticarial vasculitis McDuffie syndrome MCEE deficiency McGrath syndrome McKusick-Kaufman syndrome MCL McLeod neuroacanthocytosis syndrome MCM MCMTC MCOPS3 MCOPS4 MCOPS5 MCOPS6 MCOPS7 MCOPS8 MCOPS9 MCOPS10 MCPH McPherson-Clemens syndrome McPherson-Hall syndrome MCSZ MCT8 deficiency MCTD MCUL MD MD1 MDC1A MDC1B MDC1C MDC1D MdD MdDS ORPHA Disease name number 1836 MDK 238744 MDN syndrome 363649 MDP syndrome 3097 3097 370997 588 98954 564 3032 564 3032 70588 314376 93308 93307 93311 98838 3453 2476 57196 2006 2006 1993 141239 2699 98838 63999 370127 370127 231 231 231214 100025 101022 101338 42 171851 3050 29073 1309 1332 616 251858 Meacham syndrome Meacham-Winn-Culler syndrome MEB disease with bilateral multicystic leucodystrophy MEB syndrome MECD Meckel syndrome Meckel syndrome type 7 Meckel-Gruber syndrome Meckel-like syndrome type 1 Meconium aspiration syndrome Meconium ileus due to guanylate cyclase 2C deficiency MED1 MED4 MED5 Med-DLBCL MEDAC syndrome Medeira-Dennis-Donnai syndrome Medial condensing osteitis of the clavicle Median cleft lip/mandibule Median cleft lower facial stage Median cleft of the upper lip corpus callosum lipoma - cutaneous polyps Median cleft of the upper lip and maxilla Median nodule of the upper lip Mediastinal diffuse large-cell lymphoma with sclerosis Mediastinal fibrosis Medich giant platelet syndrome Medich macrothrombocytopenia Medina worm disease Medinensis Mediterranean anemia Mediterranean lymphoma Mediterranean macrothrombocytopenia Mediterranean spotted fever Medium chain acyl-CoA dehydrogenase deficiency MEDNIK syndrome Medrano-Roldan syndrome Medullary plasmacytoma Medullary sponge kidney Medullary thyroid carcinoma Medulloblastoma Medulloblastoma with extensive nodularity → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 94 ORPHA Disease name number 251883 Medulloepithelioma 98954 Meesmann corneal dystrophy 97252 Mega-cisterna magna 66629 280671 238637 2241 2241 2604 402023 2478 2478 2477 60040 2478 83473 60040 60040 238763 2479 238637 352328 3038 85282 2196 2554 90186 93964 90186 93964 90185 314451 98868 98868 252206 97338 97338 Megacolon - microcephaly Megaconial congénital muscular dystrophy Megacystis-megaureter syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Megaduodenum and/or megacystis Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megalencephalic leukodystrophy Megalencephalic leukoencephalopathy with subcortical cysts Megalencephaly Megalencephaly - cutis marmorata telangiectatica congenita Megalencephaly - cystic leukodystrophy Megalencephaly - polymicrogyria postaxial polydactyly hydrocephalus Megalencephaly-capillary malformation syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Megalocornea - spherophakia secondary glaucoma Megalocornea-intellectual disability syndrome Megaureter-megacystis syndrome MEGDEL syndrome Mehes syndrome MEHMO syndrome Meier-Blumberg-Imahorn syndrome Meier-Gorlin syndrome Meige disease Meige dystonia Meige lymphedema Meige syndrome Meige-like disease Meigs syndrome Melanesian elliptocytosis Melanesian ovalocytosis Melanoma and neural system tumor syndrome Melanoma of soft parts Melanoma of soft tissue ORPHA Disease name number 252206 Melanoma-astrocytoma syndrome 404560 51013 79146 79146 550 87503 2482 31202 2483 2484 2485 1879 93571 652 653 247698 247709 276152 401973 319552 99898 319547 319558 319552 99898 319547 319558 319563 319600 Melanoma-pancreatic cancer syndrome Melanoma-pancreatic cancer syndrome Melanosis diffusa congenita Melanosis universalis hereditaria MELAS Meleda disease Melhem-Fahl syndrome Melioidosis Melkersson-Rosenthal syndrome Melnick-Needles syndrome Melorheostosis Melorheostosis with osteopoikilosis Membranoproliferative glomerulonephritis type 2 MEN 1 MEN2 MEN2A MEN2B MEN4 MEND syndrome Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency ORPHA number Disease name Mendelian susceptibility to 319600 mycobacterial diseases due to 319595 319595 2494 3216 252046 2495 →823 33475 45360 565 565 75858 330021 330021 330021 79140 258 551 54370 386 238593 238593 99701 295004 295173 295171 295010 295185 295183 157801 95443 289 2496 2496 2631 partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Menetrier disease Mengel-Konigsmark syndrome Meningeal melanocytoma Meningioma Meningocele Meningococcal meningitis Menière disease Menkes disease Menkes syndrome Mental retardation - truncal obesity - retinal dystrophy - micropenis Mercurialism Mercury intoxication Mercury poisoning Merkel cell carcinoma Merosin-negative congenital muscular dystrophy MERRF Mesangiocapillary glomerulonephritis Mesenchymal hamartoma of liver Mesenteric lipogranuloma Mesenteric panniculitis Mesial temporal lobe epilepsy with hippocampal sclerosis Mesoaxial polydactyly of fingers Mesoaxial polydactyly of fingers, bilateral Mesoaxial polydactyly of fingers, unilateral Mesoaxial polydactyly of toes Mesoaxial polydactyly of toes, bilateral Mesoaxial polydactyly of toes, unilateral Mesoaxial synostotic syndactyly with phalangeal reduction Mesocardia Mesodermic dysplasia Mesomelia-synostoses syndrome Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic dwarfism - cleft palate camptodactyly → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 95 ORPHA Disease name number 2632 Mesomelic dwarfism, Langer type 2633 2634 97360 85170 2496 1836 85170 1836 50251 171690 2499 512 309271 309263 309256 1240 1040 166035 33067 166038 175 174 2501 99646 2502 2504 →175 85188 3005 213531 Mesomelic dwarfism, Nievergelt type Mesomelic dwarfism, ReinhardtPfeiffer type Mesomelic dwarfism-small genitalia syndrome Mesomelic dysplasia with absent fibulas and triangular tibias Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesomelic dysplasia, Kantaputra type Mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Thai type Mesothelioma Metabolic myopathy due to lactate transporter defect Metachondromatosis Metachromatic leukodystrophy Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, late infantile form Metaphyseal acroscyphodysplasia Metaphyseal anadysplasia Metaphyseal chondrodysplasia retinitis pigmentosa Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, McKusick type Metaphyseal chondrodysplasia, Schmid type Metaphyseal chondrodysplasia, Spahr type Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal dysostosis intellectual disability - conductive deafness Metaphyseal dysplasia - maxillary hypoplasia - brachydacty Metaphyseal dysplasia without hypotrichosis Metaphyseal dysplasia, BraunTinschert type Metaphyseal dysplasia, Pyle type Metaplastic carcinoma of the breast ORPHA Disease name number 2635 Metatropic dwarfism 2635 Metatropic dysplasia 88639 Methacrylic aciduria 31825 1923 168598 306574 413690 86904 1917 622 308380 2169 2170 395 308425 308425 26 79284 79282 79283 369955 369962 280183 280183 308425 308425 280183 26 79282 Methanol poisoning Methimazole embryofetopathy Methionine adenosyltransferase deficiency Methotrexate dose selection Methotrexate toxicity or dose selection Methotrexate-associated lymphoproliferative disorders Methyl mercury antenatal infection Methylcobalamin deficiency Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblE Methylcobalamin deficiency type cblG Methylene tetrahydrofolate reductase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria type cblF Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic acidemia with homocystinuria, type cblX Methylmalonic acidemia, TCb1R type Methylmalonic acidemia, TCbIR type Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Methylmalonic aciduria with homocystinuria Methylmalonic aciduria with homocystinuria, type cblC ORPHA number Disease name Methylmalonic aciduria with homocystinuria, type cblD Methylmalonic aciduria with 79284 homocystinuria, type cblF Methylmalonic aciduria with 369955 homocystinuria, type cblJ Methylmalonic aciduria with 369962 homocystinuria, type cblX 29 Mevalonic aciduria 2710 Meyer-Schwickerath syndrome 79113 MFDM syndrome 558 MFS 284963 MFS1 284973 MFS2 111 MGA2 67047 MGA3 67048 MGA4 66634 MGA5 67046 MGA type 1 79329 MGAT2-CDG 850 MHA 391417 MHBD deficiency 391428 MHBD deficiency, classic type 391428 MHBD deficiency, infantile type 391457 MHBD deficiency, neonatal type 99826 MHF 386 MHL 79651 mHPA 294016 MIC-CAP syndrome 294016 MIC-CM syndrome 2505 Michelin tire baby syndrome →293843 Michels syndrome 163937 MICPCH Micrencephaly - corpus callosum 2508 agenesis - abnormal genitalia 2510 Micro syndrome Microbrachycephaly - ptosis - cleft 2511 lip 2512 Microcephalia vera Microcephalic osteodysplastic 85172 dysplasia, Saul-Wilson type Microcephalic osteodysplastic 2637 primordial dwarfism type II Microcephalic osteodysplastic 2636 primordial dwarfism types I and III Microcephalic osteodysplastic 2636 primordial dwarfism, Taybi-Linder type Microcephalic primordial dwarfism 329228 due to ZNF335 deficiency Microcephalic primordial dwarfism, 319671 Alazami type Microcephalic primordial dwarfism, 319675 Dauber type 79283 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 96 ORPHA number 2643 329228 2513 3433 2523 2516 2515 2522 2521 2533 137653 217026 2172 2065 2558 3132 647 137658 1305 391641 1229 2526 3434 1305 391641 171703 Disease name Microcephalic primordial dwarfism, Toriello type Microcephalic primordial dwarfism, Walsh type Microcephaly - albinism - digital anomalies Microcephaly - brachydactyly kyphoscoliosis Microcephaly - brain defect spasticity - hypernatremia Microcephaly - cardiac defect - lung malsegmentation Microcephaly - cardiomyopathy Microcephaly - cervical spine fusion anomalies Microcephaly - cleft palate Microcephaly - deafness intellectual disability Microcephaly - digital anomalies intellectual disability Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type Microcephaly - glomerulonephritis marfanoid habitus Microcephaly - hiatus hernia nephrotic syndrome Microcephaly - hypergonadotropic hypogonadism - short stature Microcephaly hypogammaglobulinemia abnormal immunity Microcephaly - immunodeficiency lymphoreticuloma Microcephaly - intellectual disability - phalangeal and neurological anomalies Microcephaly - intellectual disability - tracheoesophageal fistula Microcephaly - intellectual disability - tracheoesophageal fistula type 1 Microcephaly - intracranial calcification - intellectual disability Microcephaly - lymphedema chorioretinopathy Microcephaly - microphthalmia ectrodactyly of lower limbs prognathism Microcephaly - oculo-digitoesophageal-duodenal syndrome Microcephaly - oculo-digitoesophageal-duodenal syndrome type 1 Microcephaly - polymicrogyria corpus callosum agenesis ORPHA number 228418 2519 240760 2512 294016 329332 329332 423894 294016 1305 391646 391641 391646 2528 423306 397951 2670 2535 2536 231736 263347 369970 98956 79490 79490 79490 Disease name Microcephaly - seizures developmental delay Microcephaly - seizures intellectual disability - heart disease Microcephaly and chromosomal instability without immunodeficiency Microcephaly vera Microcephaly-capillary malformation syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome Microcephaly-complex motor and sensory axonal neuropathy Microcephaly-cutaneous capillary malformation syndrome Microcephaly-digital anomaliesnormal intelligence syndrome Microcephaly-digital anomaliesnormal intelligence syndrome type 2 Microcephaly-digital anomaliesnormal intelligence type 1 Microcephaly-intellectual disabilitytracheoesophageal fistula syndrome type 2 Microcephaly-microcornea syndrome, Seemanova type Microcephaly-short statureintellectual disability-facial dysmorphism syndrome Microcephaly-thin corpus callosumintellectual disability syndrome Microcoria - congenital nephrosis Microcornea - corectopia - macular hypoplasia Microcornea - glaucoma - absent frontal sinuses Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma Microcornea - rod-cone dystrophy cataract - posterior staphyloma Microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcystic corneal dystrophy Microcystic infiltrating lymphatic malformation Microcystic lymphangioma Microcystic lymphatic malformation ORPHA number 83642 77301 567 90024 101081 217377 280200 280200 2538 1388 50810 89844 101052 2641 93329 85275 98938 77299 2556 2895 2547 2705 251279 139471 98938 1106 2556 568 424099 727 58220 727 727 2551 2552 83463 Disease name Microcytic anemia with liver iron overload Microdeletion 9q22.3 Microdeletion 22q11.2 Microdontia - type I microtia deafness Microduplication 17p12 Microduplication Xp11.22-p11.23 syndrome Microform holoprosencephaly Microform HPE Microgastria - limb reduction defect Micrognathia digital syndrome Microlissencephaly - micromelia Microlissencephaly type A Microlissencephaly type B Micromelic dwarfism, Fryns type Micromelic dysplasia - dislocation of radius Microphthalmia - ankyloblepharon - intellectual disability Microphthalmia - anophthalmia coloboma Microphthalmia - brain atrophy Microphthalmia - dermal aplasia sclerocornea Microphthalmia - mental deficiency Microphthalmia - microtia - fetal akinesia Microphthalmia - optic nerve aplasia Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen Microphthalmia with brain and digit anomalies Microphthalmia with colobomatous cyst Microphthalmia with limb anomalies Microphthalmia with linear skin defects syndrome Microphthalmia, Lenz type Microphthalmia-colobomarhizomelic skeletal dysplasia Micropolyangiitis Microscopic colitis Microscopic polyangiitis Microscopic polyarteritis Microspherophakia - metaphyseal dysplasia Microsporidiosis Microtia → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 97 ORPHA number Disease name Microtia - eye coloboma - ORPHA Disease name number 411536 Mild PRPS1 superactivity 139450 imperforation of the nasolacrimal 2306 289522 2290 2290 166430 1456 1456 228299 1456 2556 225 1456 100084 93926 93926 2323 141288 95443 93926 2557 2867 293181 293181 504 93926 93926 93926 93926 2558 79078 314918 169799 169808 169808 169799 79651 79651 171439 216796 247815 79253 411536 79253 411536 duct Microtia-aortic arch syndrome Microtriplication 11q24.1 Microvillous inclusion disease Microvillus inclusion disease Micturation-induced seizures Mid-aortic dysplastic syndrome Mid-aortic syndrome Mid-dermal elastolysis Midaortic syndrome MIDAS syndrome MIDD Middle aortic syndrome Middle ear endocrine tumor Middle interhemispheric fusion variant Middle interhemispheric variant of holoprosencephaly Middle-East syndrome Midline cervical cleft Midline heart Midline interhemispheric variant of holoprosencephaly Mietens syndrome Mievis - Verellen-Dumoulin syndrome Migrating partial epilepsy of infancy Migrating partial seizures of infancy Migratory myiasis MIH MIH type HPE MIHF MIHV Mikati-Najjar-Sahli syndrome Mikulicz disease Mild Canavan disease Mild factor IX deficiency Mild factor VIII deficiency Mild hemophilia A Mild hemophilia B Mild HPA Mild hyperphenylalaninemia Mild nemaline myopathy Mild osteogenesis imperfecta Mild peroxismal disorder due to PEX10 deficiency Mild phenylketonuria Mild phosphoribosylpyrophosphate synthetase superactivity Mild PKU Mild PRPP synthetase superactivity 93279 246 531 98919 94091 79452 79450 255210 1917 757 2998 352734 98832 822 1918 94125 →193 295010 295185 295183 295004 295173 295171 2378 3004 293822 134 313850 353217 225 352470 352470 254803 1933 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with earlyonset osteoarthritis Miller syndrome Miller-Dieker syndrome Miller-Fisher syndrome Mills syndrome Milroy disease Milroy-like disease MILS Minamata disease Mineralocorticoid resistant hyperkalemia Mingarelli syndrome Minimal pigment oculocutaneous albinism type 1 Minimally differentiated acute myeloblastic leukemia Minkowski-Chauffard disease Minoxidil antenatal infection MIRAS Mirhosseini-Holmes-Walton syndrome Mirror foot Mirror foot, bilateral Mirror foot, unilateral Mirror hand Mirror hand, bilateral Mirror hand, unilateral Mirror hands and feets - nasal defects Mirror polydactyly - vertebral segmentation - limbs defects MITF-related melanoma and renal cell carcinoma predisposition syndrome Mitochondrial acetoacetylcoenzyme A thiolase deficiency Mitochondrial aconitase deficiency Mitochondrial aspartate-glutamate carrier 1 deficiency Mitochondrial diabetes Mitochondrial DNA deletion syndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ORPHA number Disease name Mitochondrial DNA depletion 255235 syndrome, encephalomyopathic 369897 279934 363534 254875 352447 1194 1194 1194 1194 1933 238329 238329 550 280288 314637 168609 168609 168609 form with renal tubulopathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Mitochondrial DNA depletion syndrome, myopathic form Mitochondrial DNA maintenance syndrome due to MGME1 deficiency Mitochondrial encephalo-cardiomyopathy due to ATP synthase deficiency Mitochondrial encephalo-cardiomyopathy due to F1Fo ATPase deficiency Mitochondrial encephalo-cardiomyopathy due to mitochondrial respiratory chain complex V deficiency Mitochondrial encephalo-cardiomyopathy due to TMEM70 deficiency Mitochondrial encephalomyopathy - aminoacidopathy Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Mitochondrial HSP60 chaperonopathy Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 98 ORPHA number 168609 289560 2597 2597 2598 254864 254864 254864 550 298 90641 168609 168609 90641 168609 168609 254881 746 1205 3238 99062 99715 295012 90036 Disease name Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure Mitochondrial membrane proteinassociated neurodegeneration Mitochondrial myopathy - lactic acidosis - deafness Mitochondrial myopathy - lactic acidosis - hearing loss Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible complex IV deficiency Mitochondrial myopathy with reversible COX deficiency Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial non-syndromic neurosensory deafness Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial non-syndromic sensorineural deafness Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure Mitochondrial spinocerebellar ataxia with epilepsy Mitochondrial trifunctional protein deficiency Mitral atresia Mitral regurgitation - deafness skeletal anomalies Mitral valve agenesis Mitral valve-aorta-skeleton-skin syndrome Mitten hand Mixed AIHA ORPHA Disease name number 809 Mixed connective tissue disease 91138 Mixed cryoglobulinemia 93555 Mixed cryoglobulinemia type III ORPHA Disease name number 99732 MOCOD 308386 MOCOD type A 308393 MOCOD type B 180234 Mixed germ cell tumor 308400 MOCOD type C 1305 MODED syndrome 252021 252021 213610 251656 2785 2785 1879 324364 90036 399096 45448 98757 565 423461 423470 423461 423470 2598 2478 2526 512 309271 309263 309256 59306 2556 369970 598 399096 3434 592 268249 2241 641 641 137867 293181 293181 2479 1305 391641 391646 298 565 251656 77299 Mixed germ cell tumor of central nervous system Mixed germ cell tumor of CNS Mixed müllerian cancer of corpus uteri Mixed oligoastrocytoma Mixed renal tubular acidosis Mixed RTA Mixed sclerosing bone dystrophy Mixed sclerosing bone dystrophy with extra-skeletal manifestations Mixed-type autoimmune hemolytic anemia Miyoshi muscular dystrophy type 3 Miyoshi myopathy MJD MK ML 3 alpha/beta ML 3 gamma ML III alpha/beta ML III gamma MLASA MLC MLCRD MLD MLD, adult form MLD, juvenile form MLD, late infantile form MLS MLS syndrome MMCAT syndrome MmD MMD3 MMEP syndrome MMF MMF embryopathy MMIHS MMN MMNCB MMND MMPEI MMPSI MMR syndrome MMT MMT type 1 MMT type 2 MNGIE MNK MOA MOBA syndrome 391641 MODED syndrome type 1 90056 178145 169796 169805 169805 169796 263335 552 93111 570 1420 3198 2549 2751 52368 99927 2650 1433 397973 2563 371428 573 573 319254 319254 3057 59 91136 91136 228423 228423 228423 99885 228423 65684 86870 2565 Moderate and severe traumatic brain injury Moderate multiminicore disease with hand involvement Moderately severe factor IX deficiency Moderately severe factor VIII deficiency Moderately severe hemophilia A Moderately severe hemophilia B Moderately-differentiated thymic neuroendocrine carcinoma MODY MODY5 Moebius syndrome Moerman-Vandenberghe-Fryns syndrome Moersch-Woltman syndrome Moeschler-Clarren syndrome Mohr syndrome Mohr-Tranebjaerg syndrome Molar pregnancy Mollica-Pavone-Antener syndrome Moloney syndrome MOMES syndrome MOMO syndrome MONA spectrum Monilethrix Moniliform hair syndrome Monkey disease Monkey fever Monoamine oxidase A deficiency Monocarboxylate transporter 8 deficiency Monoclonal Ig light chainassociated Fanconi syndrome Monoclonal kappa Ig light chainassociated Fanconi syndrome Monocyte - B - natural killer dendritic cell deficiency Monocytopenia and mycobacterial infection syndrome Monocytopenia with susceptibility to infections Monogenic diabetes of infancy MonoMAC Monomelic amyotrophy Monomorphic NK-cell lymphoma Mononen-Karnes-Senac syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 99 ORPHA number 2901 293948 401986 1606 1606 250989 250999 250999 238769 36367 261349 261349 163693 228402 1617 251014 251019 251019 251019 251028 1001 1620 1621 356947 356947 65286 65286 238750 96145 281 228384 314655 1627 251046 96125 171829 251056 96126 904 251061 1636 251066 251071 2496 284160 178303 502 261112 324313 1642 77301 401923 284169 Disease name Mononeuritis multiplex with brachial predilection Monosomy 1p21.3 Monosomy 1p31p32 Monosomy 1p36 Monosomy 1pter Monosomy 1q21.1 Monosomy 1q41-q42 Monosomy 1q41q42 Monosomy 1q44 Monosomy 1qter Monosomy 2p15-p16.1 Monosomy 2p15p16.1 Monosomy 2p21 Monosomy 2q23.1 Monosomy 2q24 Monosomy 2q31.1 Monosomy 2q32 Monosomy 2q32-q33 Monosomy 2q32q33 Monosomy 2q33.1 Monosomy 2q37-qter Monosomy 3pter Monosomy 3q13 Monosomy 3q26-q27 Monosomy 3q26q27 Monosomy 3q29 Monosomy 3qter Monosomy 4q21 Monosomy 4qter Monosomy 5p Monosomy 5q14.3 Monosomy 5q31.3 Monosomy 5qter Monosomy 6p22 Monosomy 6p25 Monosomy 6q16 Monosomy 6q25 Monosomy 7pter Monosomy 7q11.23 Monosomy 7q31 Monosomy 7qter Monosomy 8p11.2 Monosomy 8p23.1 Monosomy 8q13 Monosomy 8q21.11 Monosomy 8q22.1 Monosomy 8q24.1 Monosomy 9p Monosomy 9p13 Monosomy 9pter Monosomy 9q22.3 Monosomy 9q31.1q31.3 Monosomy 10p11.21p12.31 ORPHA Disease name number 1580 Monosomy 10pter 276413 Monosomy 10q22.3q23.3 96148 Monosomy 10qter 893 2308 313884 94063 289513 96149 412035 1587 1590 96168 261120 261144 1102 264200 264200 401935 261183 199318 261190 94065 1596 261211 261211 261236 352629 261250 531 97685 261265 363958 261279 261279 1597 1598 1600 254346 357001 217346 261295 313781 261311 96152 574 261323 261323 268261 268261 96123 567 48652 Monosomy 11p13 Monosomy 11qter Monosomy 12p12.1 Monosomy 12q14 Monosomy 12q15q21.1 Monosomy 12qter Monosomy 13q12.3 Monosomy 13q14 Monosomy 13q32 Monosomy 13q34 Monosomy 14q11.2 Monosomy 14q12 Monosomy 14q22 Monosomy 14q22-q23 Monosomy 14q22q23 Monosomy 14q24.1q24.3 Monosomy 15q11.2 Monosomy 15q13.3 Monosomy 15q14 Monosomy 15q24 Monosomy 15q26 Monosomy 16p11.2-p12.2 Monosomy 16p11.2p12.2 Monosomy 16p13.11 Monosomy 16q24.1 Monosomy 16q24.3 Monosomy 17p13.3 Monosomy 17q11 Monosomy 17q12 Monosomy 17q21.31 Monosomy 17q23.1-q23.2 Monosomy 17q23.1q23.2 Monosomy 17qter Monosomy 18p Monosomy 18q Monosomy 19p13.12 Monosomy 19p13.13 Monosomy 19q13.11 Monosomy 20p12.3 Monosomy 20p13 Monosomy 20q13.33 Monosomy 20qter Monosomy 21 Monosomy 21q22.11-q22.12 Monosomy 21q22.11q22.12 Monosomy 21q22.13-q22.2 Monosomy 21q22.13q22.2 Monosomy 22 Monosomy 22q11 Monosomy 22q13 ORPHA Disease name number 99226 Monosomy X 261476 Monosomy Xp21 93277 Monostotic fibrous dysplasia 158003 Montgomery syndrome →969 Moore-Federman syndrome 2637 2636 52056 77296 75858 35737 582 309297 309310 2570 83467 83467 329813 329813 99228 96193 1692 1723 100071 96059 96060 1747 96061 99776 96063 1698 1703 1706 1708 1711 1724 96068 1052 54057 2717 254516 3347 83595 83595 2572 324972 2152 MOPD type II MOPD types I and III Morava-Mehes syndrome Morgagni-Stewart-Morel syndrome MORM syndrome Morning glory syndrome Morquio disease Morquio disease type A Morquio disease type B Morse-Rawnsley-Sargent syndrome Morvan syndrome Morvan's fibrillary chorea Mosaic genome-wide paternal uniparental disomy Mosaic genome-wide paternal UPD Mosaic monosomy X Mosaic paternal uniparental disomy of chromosome 11 Mosaic trisomy 1 Mosaic trisomy 2 Mosaic trisomy 3 Mosaic trisomy 4 Mosaic trisomy 5 Mosaic trisomy 7 Mosaic trisomy 8 Mosaic trisomy 9 Mosaic trisomy 10 Mosaic trisomy 12 Mosaic trisomy 14 Mosaic trisomy 15 Mosaic trisomy 16 Mosaic trisomy 17 Mosaic trisomy 20 Mosaic trisomy 22 Mosaic variegated aneuploidy syndrome Moschcowitz disease MOTA syndrome Motor developmental delay due to 14q32.2 paternally expressed gene defect Mounier-Kühn syndrome Mountain fever Mountain tick fever Mousa-Al Din-Al Nassar syndrome Mouth and genital ulcers with inflamed cartilage Mowat-Wilson syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 100 ORPHA number 261537 261552 261537 261537 2573 280679 401945 2574 352734 727 289560 59135 399086 79323 293181 54370 79319 79253 3148 252212 2587 231736 83473 579 93473 93476 93474 583 276212 276223 293181 581 309297 309310 583 276212 276223 99967 263347 67045 3109 247775 2578 3059 85274 Disease name Mowat-Wilson syndrome due to 2q22 microdeletion Mowat-Wilson syndrome due to a ZEB2 point mutation Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to monosomy 2q22 Moyamoya disease Moyamoya disease - short stature facial dysmorphism hypergonadotropic hypogonadism Moyamoya disease with earlyonset achalasia Moynahan syndrome MP OCA type 1 MPA MPAN MPD1 MPD3 MPDU1-CDG MPEI MPGN MPI-CDG mPKU MPNST MPNST with rhabdomyosarcomatous differentiation MPO deficiency MPPC syndrome MPPH syndrome MPS1 MPS1H MPS1H/S MPS1S MPS6 MPS6, rapidly progressing MPS6, slowly progressing MPSI MPSIII MPSIVA MPSIVB MPSVI MPSVI, rapidly progressing MPSVI, slowly progressing MRCLS MRCS syndrome MRGH MRKH syndrome MRKH syndrome type 1 MRKH syndrome type 2 MRX35 MRXS7 ORPHA number 85324 MRXS9 93952 MRXSH 2598 MSA 102 227510 98933 227510 98933 1879 254881 585 2619 1309 99898 319547 319558 319552 99898 319547 319552 319558 319563 319600 319600 319595 319595 157801 65748 511 2505 1332 352470 352470 254803 1933 Disease name MSA MSA, cerebellar type MSA, parkinsonian type MSA-c MSA-p MSBD syndrome MSCAE MSD Mseleni joint disease MSK MSMD due to complete IFNgammaR1 deficiency MSMD due to complete IFNgammaR2 deficiency MSMD due to complete IL12B deficiency MSMD due to complete IL12RB1 deficiency MSMD due to complete interferon gamma receptor 1 deficiency MSMD due to complete interferon gamma receptor 2 deficiency MSMD due to complete interleukin 12 receptor beta 1 deficiency MSMD due to complete interleukin 12B deficiency MSMD due to complete ISG15 deficiency MSMD due to partial interferon regulatory factor 8 deficiency MSMD due to partial IRF8 deficiency MSMD due to partial signal transducer and activator of transcription 1 deficiency MSMD due to partial STAT1 deficiency MSSD MSSE MSUD MTBS MTC mtDNA deletion syndrome with progressive myopathy mtDNA deletion syndromesyndrome with limb-girdle weakness mtDNA depletion syndrome, encephalomyopathic form mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria ORPHA number Disease name mtDNA depletion syndrome, 255235 encephalomyopathic form with 369897 363534 254875 352447 395 252212 100024 100024 398961 391723 424053 319322 575 2331 2451 423461 423470 576 577 423461 423470 578 579 93473 93476 93474 580 217093 217085 217085 217093 581 79269 79270 79271 79272 582 309297 309310 583 renal tubulopathy mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies mtDNA depletion syndrome, hepatocerebrorenal form mtDNA depletion syndrome, myopathic form mtDNA maintenance syndrome due to MGME1 deficiency MTHFR deficiency MTT mu-HCD Mu-heavy chain disease Mucinous adenocarcinoma of ovary Mucinous adenocarcinoma of the appendix Mucinous cystadenocarcinoma of pancreas Mucinous tubular and spindle cell carcinoma Muckle-Wells syndrome Mucocutaneous lymph node syndrome Mucocutaneous venous malformations Mucolipidosis type 3 alpha/beta Mucolipidosis type 3 gamma Mucolipidosis type II Mucolipidosis type III Mucolipidosis type III alpha/beta Mucolipidosis type III gamma Mucolipidosis type IV Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 1H Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis type 1S Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 2A Mucopolysaccharidosis type 2B Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 3A Mucopolysaccharidosis type 3B Mucopolysaccharidosis type 3C Mucopolysaccharidosis type 3D Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 6 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 101 ORPHA number 276212 276223 584 67041 579 93473 93476 580 217093 217085 217085 217093 79269 79270 79271 79272 93474 582 309297 309310 67041 584 73263 52417 52417 46486 585 46486 46486 586 53271 444 587 2576 2576 2774 93686 93686 85196 371428 139436 1851 168816 1851 Disease name Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 7 Mucopolysaccharidosis type 9 Mucopolysaccharidosis type I Mucopolysaccharidosis type IH Mucopolysaccharidosis type IH/S Mucopolysaccharidosis type II Mucopolysaccharidosis type II, attenuated form Mucopolysaccharidosis type II, severe form Mucopolysaccharidosis type IIA Mucopolysaccharidosis type IIB Mucopolysaccharidosis type IIIA Mucopolysaccharidosis type IIIB Mucopolysaccharidosis type IIIC Mucopolysaccharidosis type IIID Mucopolysaccharidosis type IS Mucopolysaccharidosis type IV Mucopolysaccharidosis type IVA Mucopolysaccharidosis type IVB Mucopolysaccharidosis type IX Mucopolysaccharidosis type VII Mucormycosis Mucosa-associated lymphatic tissue lymphoma Mucosa-associated lymphoid tissue lymphoma Mucosal pemphigoid Mucosulfatidosis Mucosynechial pemphigoid Mucous membrane pemphigoid Mucoviscidosis Muenke syndrome MUHH Muir-Torre syndrome MULIBREY dwarfism MULIBREY nanism Multicentric carpo-tarsal osteolysis with or without nephropathy Multicentric Castleman disease Multicentric giant lymph node hyperplasia Multicentric osteolysis - nodulosis arthropathy Multicentric osteolysis-nodulosisarthropathy spectrum Multicentric reticulohistiocytosis Multicystic dysplastic kidney Multicystic mesothelioma Multicystic renal dysplasia ORPHA number 48162 3282 99873 641 641 2033 99003 3286 319287 319287 319287 319287 97366 319287 319287 168816 97366 97366 598 598 2091 26791 394532 394529 2505 2678 2678 321 280633 254519 300496 1486 137776 Disease name Multifocal acquired demyelinating sensory and motor neuropathy Multifocal atrial tachycardia Multifocal eosinophilic granuloma Multifocal motor neuropathy Multifocal motor neuropathy with conduction block Multifocal muscular fibrosis obstructed vessels Multifocal pattern dystrophy simulating fundus flavimaculatus Multifocal ventricular premature beats Multilocular clear cell adenocarcinoma Multilocular clear cell carcinoma Multilocular clear cell renal cell adenocarcinoma Multilocular clear cell renal cell carcinoma Multilocular cyst of the kidney Multilocular cystic renal cell adenocarcinoma Multilocular cystic renal cell carcinoma Multilocular peritoneal inclusion cyst Multilocular renal cyst Multiloculated renal cyst Multiminicore disease Multiminicore myopathy Multinodular goiter - cystic kidney polydactyly Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenation deficiency, mild type Multiple acyl-CoA dehydrogenation deficiency, severe neonatal type Multiple benign circumferential skin creases on limbs Multiple café-au-lait spots Multiple café-au-lait syndrome Multiple cartilaginous exostoses Multiple congenital anomalies hypotonia - seizures syndrome Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect Multiple congenital anomalieshypotonia-seizures syndrome type 2 Multiple contracture syndrome, Finnish type Multiple contracture syndrome, Israeli-Bedouin type ORPHA number 523 3453 3453 652 653 247698 247709 247709 276152 166024 166011 166002 93308 93307 93311 166016 166024 166011 166016 166032 166029 50920 83454 201 2300 284139 294049 493 65748 587 79455 29073 Disease name Multiple cutaneous and uterine leiomyomas Multiple endocrine deficiency Addison's disease - candidiasis Multiple endocrine deficiency Addison's disease - candidosis Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 3 Multiple endocrine neoplasia type 4 Multiple epiphyseal dysplasia macrocephaly - distinctive facies Multiple epiphyseal dysplasia myopia - deafness Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia with Robin phenotype Multiple epiphyseal dysplasia, AlGazali type Multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple fibroadenoma of the breast Multiple glomus tumors Multiple hamartoma syndrome Multiple intestinal atresia Multiple joint dislocations - short stature - craniofacial dysmorphism congenital heart defects multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome Multiple keratoacanthoma Multiple keratoacanthoma, Ferguson-Smith type Multiple keratoacanthoma, MuirTorre type Multiple mastocytoma Multiple myeloma → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 102 ORPHA Disease name number 2029 Multiple non-ossifying fibromatosis 321 Multiple osteochondromas 324299 324299 95494 →1234 3151 65748 585 2398 3237 102 227510 98933 99096 102 404463 2959 2578 83315 2028 99849 171445 97234 588 370997 588 2576 2579 1877 424261 199340 99849 324416 2349 3079 494 Multiple paragangliomas associated with erythrocytosis Multiple paragangliomas associated with polycythemia Multiple pituitary hormone deficiencies, genetic forms Multiple pterygium syndrome, Aslan type Multiple sclerosis - ichthyosis factor VIII deficiency Multiple self-healing squamous epithelioma Multiple sulfatase deficiency Multiple symmetric lipomatosis Multiple synostoses syndrome Multiple system atrophy Multiple system atrophy, cerebellar type Multiple system atrophy, parkinsonian type Multiple ventricular septal defects Multisystem atrophy Multisystemic smooth muscle dysfunction syndrome Mulvihill-Smith syndrome MURCS association Murine typhus Murray-Puretic-Drescher syndrome Muscle enolase deficiency Muscle filaminopathy Muscle phosphoglycerate mutase deficiency Muscle-eye-brain disease Muscle-eye-brain disease with bilateral multicystic leucodystrophy Muscle-eye-brain syndrome Muscle-liver-brain-eye nanism Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus Muscular dystrophy - white matter spongiosis Muscular dystrophy with progressive weakness, distal contractures and rigid spine Muscular dystrophy, Selcen type Muscular enolase deficiency Muscular hypertrophy hepatomegaly - polyhydramnios Muscular pseudohypertrophy hypothyroidism Mutchinick syndrome Mutilating keratoderma of Vohwinkel ORPHA number 494 659 659 247798 247798 247798 247798 29 2290 2582 589 2583 314946 268249 83482 2584 178512 183713 59298 135 2585 268813 86841 824 168953 168947 168950 86850 91136 29073 93969 2587 824 182050 182050 182050 Disease name Mutilating keratoderma plus deafness Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques Mutilating palmoplantar keratoderma with periorificial keratotic plaques MUTYH-related AFAP MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial polyposis coli MUTYH-related attenuated FAP MVA MVID Myalgia-eosinophilia syndrome associated with tryptophan Myasthenia gravis Mycetoma Mycobacterium xenopi infection Mycophenolate mofetil embryopathy Mycoplasma encephalitis Mycosis fungoides, Alibert-Bazin type Mycosis fungoides-associated follicular mucinosis MyD88 deficiency Myelinoclastic diffuse sclerosis Myelinosis centralis diffusa Myelocerebellar disorder Myelocystocele Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelofibrosis with myeloid metaplasia Myeloid neoplasm associated with FGFR1 rearrangement Myeloid neoplasm associated with PDGFRA rearrangement Myeloid neoplasm associated with PDGFRB rearrangement Myeloid sarcoma Myeloma-associated Fanconi syndrome Myelomatosis Myelomeningocele Myeloperoxidase deficiency Myelosclerosis with myeloid metaplasia MYH9-RD MYH9-related disease MYH9-related disorder ORPHA Disease name number 182050 MYH9-related syndrome 182050 2588 109 45 1942 36899 →36899 86913 86909 1942 1942 2589 551 86913 36899 210566 178464 104077 2601 1358 2596 88635 97234 43115 171889 2598 289685 368 178493 178493 289380 337 764 764 306553 275534 MYH9-related syndromic thrombocytopenia Myhre syndrome Myhre-Riley-Smith syndrome Myoadenylate deaminase deficiency Myoclonic atonic epilepsy Myoclonic dystonia Myoclonic dystonia 15 Myoclonic epilepsy in nonprogressive encephalopathies Myoclonic epilepsy of infancy Myoclonic-astastic epilepsy Myoclonic-astatic epilepsy in early childhood Myoclonus - cerebellar ataxia deafness Myoclonus epilepsy associated with ragged-red fibers Myoclonus epilepsy in nonprogressive encephalopathies Myoclonus-dystonia syndrome Myoclonus-dystonia type 15 Myofibrillar myopathy with early respiratory failure Myopathic intestinal pseudoobstruction Myopathy - growth delay intellectual disability - hypospadias Myopathy - Moebius - Robin syndrome Myopathy and diabetes mellitus Myopathy due to calsequestrin and SERCA1 protein overload Myopathy due to phosphoglycerate mutase deficiency Myopathy with exercise intolerance, Swedish type Myopathy with hexagonally crosslinked tubular arrays Myopathy, lactic acidosis and sideroblastic anemia Myopericytoma Myophosphorylase deficiency Myopic macular degeneration Myopic maculopathy Myosclerosis Myositis ossificans progressiva Myositis purulenta tropica Myositis tropicans Myospherulosis Myostatin-related muscle hypertrophy → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 103 ORPHA number 3101 99736 614 99734 99735 800 273 606 →52430 800 596 79105 79105 99967 1359 57782 251643 50815 570 2560 1655 2491 2578 2608 79270 583 309297 576 79329 137754 103908 178303 139373 139380 139373 139380 Disease name Myotonia - intellectual disability skeletal anomalies Myotonia - painful contractions Myotonia congenita Myotonia fluctuans Myotonia permanens Myotonic chondrodystrophy Myotonic dystrophy type 1 Myotonic dystrophy type 2 Myotonic dystrophy type 3 Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Myotubular myopathy Myxofibrosarcoma Myxoid malignant fibrous histiocytoma Myxoid/round cell liposarcoma Myxoma - spotty pigmentation endocrine overactivity Myxoma with fibrous dysplasia Myxopapillary ependymoma Mégarbané-Loiselet syndrome Möbius syndrome Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism Müllerian derivatives lymphangiectasia - polydactyly Müllerian duct anomalies - limb anomalies Müllerian duct aplasia-renal dysplasia-cervical somite dysplasia anomalies syndrome N syndrome N-acetyl-alpha-glucosaminidase deficiency N-acetylgalactosamine 4-sulfatase deficiency N-acetylgalactosamine-6-sulfate sulfatase deficiency N-acetylglucosamine 1phosphotransferase deficiency N-acetylglucosaminyltransferase 2 deficiency N-acyl-L-amino acid amidohydrolase deficiency Na-H exchange deficiency Nablus mask-like facial syndrome NADH-cytochrome b5reductase deficiency type 1 NADH-cytochrome b5reductase deficiency type 2 NADH-diaphorase deficiency type 1 NADH-diaphorase deficiency type 2 ORPHA Disease name number 69087 Naegeli syndrome 69087 245 3137 79279 79280 79281 245 245 927 2211 423454 2355 2614 2613 158676 853 101 2229 1063 2615 2822 44 206569 →1359 383 627 35612 85196 247868 83465 2073 644 141103 141103 141219 141118 141115 141112 141112 86879 2662 141083 2399 150 141107 2770 Naegeli-Franceschetti-Jadassohn syndrome NAFD NAGA deficiency NAGA deficiency type 1 NAGA deficiency type 2 NAGA deficiency type 3 Nager acrofacial dysostosis Nager syndrome NAGS deficiency Naguib-Richieri-Costa syndrome Nail and teeth abnormalitiesmarginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail dysplasia - camptodactyly brachydactyly type B Nail-patella syndrome Nail-patella-like renal disease Nails-only DEB NAIT Naito-Oyanagi disease Najjar syndrome Nakagawa angioblastoma Nakajo-Nishimura syndrome Nakamura-Osame syndrome NALD NAM NAME syndrome Nance deafness Nance-Horan syndrome Nanophthalmia NAO syndrome NAPS12 Narcolepsy without cataplexy Narcolepsy-cataplexy NARP syndrome Nasal dermoid cyst Nasal dermoid sinus cyst Nasal dorsum fistula/cyst Nasal encephalocele Nasal ganglioglioma Nasal glial heterotopia Nasal glioma Nasal T/natural killer-cell lymphoma Nasodigitoacoustic syndrome Nasolacrimal duct cyst Nasopalpebral lipoma - coloboma telecanthus Nasopharyngeal carcinoma Nasopharyngeal teratoma Nasu-Hakola disease ORPHA number 1654 2663 168572 69739 255229 255229 34217 377 157850 216873 216866 289560 329284 397725 289560 647 240760 240760 95698 217560 1947 2481 75327 300337 399103 158011 391673 217560 199244 607 607 607 217563 44 398109 398109 398097 398097 398109 137929 314911 313906 398117 79118 Disease name Natal teeth - intestinal pseudoobstruction - patent ductus Nathalie syndrome Native American myopathy Navajo brainstem syndrome Navajo neurohepatopathy Navajo neuropathy Naxos disease NBCCS NBIA1 NBIA1, atypical form NBIA1, classic form NBIA4 NBIA5 NBIA6 NBIA due to C19orf12 mutation NBS NBS-like disorder NBSLD NCAH NCHI NCL, Northern epilepsy variant NCM NCMD NCRNA disease Nebulin-related early-onset distal myopathy Necrobiotic xanthogranuloma Necrotizing enterocolitis NEHI Nelson syndrome NEM Nemaline myopathy Nemaline rod myopathy Neonatal acute respiratory distress with surfactant metabolism deficiency Neonatal adrenoleukodystrophy Neonatal AHA Neonatal AIHA Neonatal antiphospholipid antibody syndrome Neonatal antiphospholipid syndrome Neonatal autoimmune hemolytic anemia Neonatal brainstem dysfunction Neonatal Canavan disease Neonatal congenital pancreatic cyst Neonatal dermatomyositis Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis polycystic kidneys → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 104 ORPHA Disease name number 398117 Neonatal DM 289857 Neonatal glycine encephalopathy 446 Neonatal hemochromatosis 398097 Neonatal Hughes syndrome 137577 294023 247598 247598 238688 398124 284979 69063 69063 284979 79242 391504 →42738 289857 289857 56304 3455 70587 398127 417 1451 314950 94058 654 2849 223 3145 137617 93606 137617 93622 93623 655 Neonatal hypoxic and ischemic brain injury Neonatal inflammatory skin and bowel disease Neonatal intrahepatic cholestasis caused by citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal iodine exposure Neonatal lupus erythematosus Neonatal Marfan syndrome Neonatal membranous glomerulopathy with maternal NEP deficiency Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency Neonatal MFS Neonatal multiple carboxylase deficiency Neonatal myasthenia gravis Neonatal neutropenia Neonatal NKH Neonatal non-ketotic hyperglycinemia Neonatal osseous dysplasia type 1 Neonatal progeroid syndrome Neonatal respiratory distress syndrome Neonatal scleroderma Neonatal severe primary hyperparathyroidism Neonatal-onset multisystem inflammatory disease Neoplastic hypereosinophilic syndrome Neovascular glaucoma Nephroblastoma Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor Nephrogenic diabetes insipidus Nephrogenic diabetes insipidus intracranial calcification Nephrogenic fibrosing dermopathy Nephrogenic syndrome of inappropriate antidiuresis Nephrogenic systemic fibrosis Nephrolithiasis type 1 Nephrolithiasis type 2 Nephronophthisis ORPHA number Disease name Nephronophthisis - hepatic fibrosis 84081 - tapetoretinal degeneration 3156 411629 2668 2669 2065 300333 300333 2337 280576 634 2671 99078 3350 2672 2479 635 2901 2901 351 268865 252164 93921 252164 635 2481 2481 35664 88639 289560 397725 157850 216873 216866 intellectual disability Nephronophthisis with retinal dystrophy Nephropathic infantile cystinosis Nephropathy-deafnesshyperparathyroidism syndrome Nephrosis - deafness - urinary tract - digital malformations Nephrosis - neuronal dysmigration syndrome Nephrotic syndrome-deafnesspretibial epidermolysis bullosa syndrome Nephrotic syndrome-hearing losspretibial epidermolysis bullosa syndrome NEPPK Nestor-Guillermo progeria syndrome Netherton syndrome Neu-Laxova syndrome Neuhauser anomaly Neuhauser-Daly-Magnelli syndrome Neuhauser-Eichner-Opitz syndrome Neuhäuser syndrome Neural crest tumor Neuralgic amyotrophy Neuralgic shoulder amyotrophy Neuraminidase deficiency with beta-galactosidase deficiency Neurenteric cyst Neurilemmoma Neurilemmomatosis Neurilemoma Neuroblastoma Neurocutaneous melanocytosis Neurocutaneous melanosis Neurocutaneous syndrome, Bicknell type Neurodegeneration due to 3hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegeneration with brain iron accumulation due to COASY mutation Neurodegeneration with brain iron accumulation type 1 Neurodegeneration with brain iron accumulation type 1, atypical form Neurodegeneration with brain iron accumulation type 1, classic form ORPHA number 289560 329284 217382 3474 33445 3474 2676 217560 2677 2673 157846 252183 137605 636 363700 97685 638 637 93921 2678 638 3148 970 1143 100073 100073 178029 644 3148 85146 100073 100073 100073 252164 94093 36397 Disease name Neurodegeneration with brain iron accumulation type 4 Neurodegeneration with brain iron accumulation type 5 Neurodegenerative syndrome due to cerebral folate transport deficiency Neuroectodermal dysplasia, CHIME type Neuroectodermal melanolysosomal disease Neuroectodermal syndrome, Zunich type Neuroectodermal-endocrine syndrome Neuroendocrine cell hyperplasia of infancy Neuroepithelioma Neurofaciodigitorenal syndrome Neuroferritinopathy Neurofibroma Neurofibromatosis 1-like syndrome Neurofibromatosis type 1 Neurofibromatosis type 1 due to NF1mutation or intragenic deletion Neurofibromatosis type 1 microdeletion syndrome Neurofibromatosis type 1-Noonan syndrome Neurofibromatosis type 2 Neurofibromatosis type 3 Neurofibromatosis type 6 Neurofibromatosis-Noonan syndrome Neurofibrosarcoma Neurogenic acroosteolysis Neurogenic arthrogryposis multiplex congenita Neurogenic cervical rib syndrome Neurogenic costoclavicular syndrome Neurogenic diabetes insipidus Neurogenic muscle weakness ataxia - retinitis pigmentosa Neurogenic sarcoma Neurogenic scapuloperoneal syndrome Neurogenic thoracic outlet compression syndrome Neurogenic thoracic outlet syndrome Neurogenic TOS Neurolemmoma Neuroleptic malignant syndrome Neurolipomatosis → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 105 ORPHA number 163746 137754 206586 71211 1947 99811 2289 644 639 139512 217622 217622 137596 137596 98907 98908 98908 →86872 2690 183707 169142 575 370059 623 →1900 377 228264 64754 228254 370059 263425 263432 263425 2612 Disease name Neurologic Waardenburg-Shah syndrome Neurological conditions associated with aminoacylase 1 deficiency Neurolymphomatosis Neuromyelitis optica Neuronal ceroid lipofuscinosis, Northern epilepsy variant Neuronal intestinal pseudoobstruction Neuronal intranuclear inclusion disease Neuropathy - ataxia - retinitis pigmentosa Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein Neuropathy with hearing impairment Neurosensory deafness with dilated cardiomyopathy Neurosensory hearing loss with dilated cardiomyopathy Neurotrophic keratitis Neurotrophic keratopathy Neutral lipid storage disease with ichthyosis Neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage myopathy Neutropenia - hyperlymphocytosis with large granular lymphocytes Neutropenia - monocytopenia deafness Neutrophil immunodeficiency syndrome Neutrophil-specific granule deficiency Neutrophilic urticaria NEVADA syndrome Nevi - atrial myxoma - myxoid neurofibromata - ephelides Nevo syndrome Nevoid basal cell carcinoma syndrome Nevus anelasticus Nevus comedonicus syndrome Nevus elasticus Nevus epidermicus verrucosus with angiodysplasia and aneurysms Nevus fusculoceruleus ophthalmomaxillaris Nevus of Ito Nevus of Ota Nevus sebaceus of Jadassohn ORPHA Disease name number 2612 Nevus sebaceus syndrome 363558 83471 636 97685 137605 637 93921 2678 69087 638 91349 401869 289356 404454 404454 280576 2770 169079 276608 247598 141179 3051 77292 77293 646 216986 216981 216981 216978 216975 216972 →646 99022 79289 2633 1390 98757 432 2322 647 240760 781 New-onset refractory status epilepticus Nezelof syndrome NF1 NF1 microdeletion syndrome NF1-like syndrome NF2 NF3 NF6 NFJ syndrome NFNS NFPA NFU1 deficiency NGCO NGLY1 deficiency NGLY1-CDG NGPS NHD NHEJ1 deficiency NI-PHH NICCD NICH Nicolaides-Baraitser syndrome Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, classic form Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type D Niemann-Pick disease type E Niemann-Pick disease, Nova Scotia type Nievergelt syndrome Night blindness - skeletal anomalies - dysmorphism Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia nIHH Niikawa-Kuroki syndrome Nijmegen breakage syndrome Nijmegen breakage syndrome-like disorder Nine Mile fever ORPHA Disease name number 99825 Nipah encephalitis 99825 Nipah fever 99825 Nipah virus disease 59303 1422 263665 86873 86873 86879 407 86879 86893 247868 98907 98908 607 391504 86867 2615 1884 31204 98812 86867 137810 90393 86893 2149 33577 48372 158772 85196 2700 1451 289362 289362 →79452 73267 231720 631 97566 86861 NISCH syndrome Nivelon-Nivelon-Mabille syndrome NK-cell enteropathy NK-cell large granular lymphocyte leukemia NK-cell LGL leukemia NK/T-cell lymphoma NKA NKTCL NLPHL NLRP12-associated hereditary periodic fever syndrome NLSDI NLSDM NM NMG NMZL NNS Noble-Bass-Sherman syndrome Nocardiosis Nocturnal paroxysmal dystonia Nodal marginal zone B-cell lymphoma Nodular cutaneous amyloidosis Nodular lichen myxedematosus Nodular lymphocyte predominant Hodgkin lymphoma Nodular neuronal heterotopia Nodular non-suppurative panniculitis Nodular regenerative hyperplasia of the liver Nodular urticaria pigmentosa Nodulosis-arthropathy-osteolysis syndrome Noma NOMID syndrome Non central nervous systemlocalized embryonal carcinoma Non CNS-localized embryonal carcinoma Non hereditary congenital primary lymphedema Non-24-hour sleep-wake syndrome Non-acquired combined pituitary hormone deficiency with spine abnormalities Non-acquired isolated growth hormone deficiency Non-amyloid fibrillary glomerulopathy Non-amyloid MIDD → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 106 ORPHA number 86861 79394 77259 48372 95698 325529 216796 1581 96136 96160 96164 96112 1695 1702 96136 1581 96160 96164 3306 96112 1695 1702 329469 206538 363494 2337 496 2972 100070 91349 26137 →90186 357034 163924 329883 329918 Disease name Non-amyloid monoclonal immunoglobulin deposition disease Non-bullous congenital ichthyosiform erythroderma Non-cerebral juvenile Gaucher disease Non-cirrhotic nodulation Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Non-deforming osteogenesis imperfecta Non-distal 10q deletion Non-distal deletion 7p Non-distal deletion 12q Non-distal deletion 20q Non-distal duplication 9q Non-distal duplication 10q Non-distal duplication 13q Non-distal monosomy 7p Non-distal monosomy 10q Non-distal monosomy 12q Non-distal monosomy 20q Non-distal tetrasomy 15q Non-distal trisomy 9q Non-distal trisomy 10q Non-distal trisomy 13q Non-DS-AMKL Non-dysgerminomatous germ cell cancer of ovary Non-dysgerminomatous germ cell tumor of testis Non-epidermolytic palmoplantar keratoderma Non-epidermolytic palmoplantar keratoderma Non-eruption of teeth - maxillary hypoplasia - genu valgum Non-fluent variant PPA Non-functioning pituitary adenoma Non-giant cell granulomatous temporal arteritis with eosinophilia Non-hereditary late-onset primary lymphedema Non-hereditary retinoblastoma Non-herpetic acute limbic encephalitis Non-hypoproteinemic hypertrophic gastropathy Non-Ig-mediated membranoproliferative glomerulonephritis ORPHA Disease name number 329918 Non-Ig-mediated MPGN 363999 Non-immune fetal edema 363999 Non-immune fetal hydrops 363999 Non-immune HF 363999 Non-immune hydrops fetalis 329918 329918 263548 263548 141179 407 98890 411641 84085 209989 209989 238583 79651 99817 1766 314647 101106 94080 363494 169446 91364 91364 90031 35099 30391 91492 300337 276234 276234 3366 Non-immunoglobulin-mediated membranoproliferative glomerulonephritis Non-immunoglobulin-mediated MPGN Non-inflammatory generalized peeling skin syndrome type A. Non-inflammatory peeling skin syndrome type A Non-involuting congenital hemangioma Non-ketotic hyperglycinemia Non-Leber type optic atrophy with early-onset Non-nephropathic cystinosis Non-neurogenic neurogenic bladder Non-papillary transitional cell carcinoma of the bladder Non-papillary urothelial carcinoma Non-phenylketonuric hyperphenylalaninemia Non-PKU HPA Non-polyposis Turcot syndrome Non-progressive cerebellar ataxia intellectual disability Non-progressive cerebellar ataxia with intellectual disability Non-secreting chemodectoma Non-secreting paraganglioma Non-seminomatous germ cell tumor of testis Non-skeletal hyper-IgE syndrome Non-specific idiopathic interstitial pneumonia Non-specific interstitial pneumonia Non-spherocytic hemolytic anemia due to hexokinase deficiency Non-syndromic bicoronal synostosis Non-syndromic biliary atresia Non-syndromic congenital cataract Non-syndromic congenital retinal non-attachment Non-syndromic male infertility due asthenozoospermia Non-syndromic male infertility due to sperm motility disorder Non-syndromic metopic craniosynostosis ORPHA Disease name number 35093 Non-syndromic sagittal synostosis 35098 96136 1581 96160 96164 3306 96112 1695 1702 411703 209919 602 79452 648 363972 363972 2701 230 230 314928 2254 79255 306658 →682 680 680 812 680 432 432 649 649 363558 75327 75327 1947 79293 1134 77304 178 2703 2005 Non-syndromic unicoronal synostosis Non-telomeric monosomy 7p Non-telomeric monosomy 10q Non-telomeric monosomy 12q Non-telomeric monosomy 20q Non-telomeric tetrasomy 15q Non-telomeric trisomy 9q Non-telomeric trisomy 10q Non-telomeric trisomy 13q Non-tuberculous mycobacterial lung disease Non-Wilsonian hepatic copper toxicosis of infancy and childhood Nonaka myopathy Nonne-Milroy lymphedema Noonan syndrome Noonan syndrome-like disorder with JMML Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Noonan syndrome-like disorder with loose anagen hair Noradrenaline deficiency Norepinephrine deficiency Normal pressure hydrocephalus Norman disease Norman-Landing disease Normocalcemic tumoral calcinosis Normokalemic periodic paralysis Normokalemic PP NormoKPP Normomorphic sialidosis NormoPP Normosmic congenital hypogonadotropic hypogonadism Normosmic idiopathic hypogonadotropic hypogonadism Norrie disease Norrie-Warburg disease NORSE North Carolina macular dystrophy North Carolina macular dystrophy, retinal 1 Northern epilepsy Norum disease Nose agenesis Not NOTCH3-related small vessel disease of the brain Notochordal sarcoma Nova syndrome Novak syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 107 ORPHA number 314928 NPH 3032 634 88616 417 93606 91364 100073 98991 314790 280234 999 2253 99965 54 398156 1106 374 374 97297 88643 397615 66628 179494 217031 71529 71526 71528 369873 1303 64743 2970 3411 352731 352734 352737 79431 79434 79432 79433 79435 370091 370097 352745 Disease name NPHP3-related Meckel-like syndrome NS NS-ARID NSHPT NSIAD NSIP NTOS Nuclear cataract Null pituitary adenoma Null syndrome O'Doherty syndrome O'Donnell-Pappas syndrome O'Sullivan-McLeod syndrome OA1 OAFNS OAS OAV dysplasia OAVS Oberklaid-Danks syndrome Obesity - colitis - hypothyroidism cardiac hypertrophy developmental delay Obesity due to CEP19 deficiency Obesity due to congenital leptin deficiency Obesity due to leptin receptor gene deficiency Obesity due to MC3R deficiency Obesity due to melanocortin 4 receptor deficiency Obesity due to proopiomelanocortin deficiency Obesity due to prohormone convertase I deficiency Obesity due to SIM1 deficiency Obliterative bronchiolitis Obliterative portal venopathy Obrinsky syndrome Obstructed hemivagina and ipsilateral renal anomaly OCA1 OCA1-MP OCA1-TS OCA1A OCA1B OCA2 OCA3 OCA4 OCA5 OCA6 OCA7 ORPHA number 217017 268823 198 280640 280640 280640 353351 51608 1647 99889 247834 84085 2704 247834 534 534 664 54 352740 1000 54 195 411641 2788 1125 99922 534 534 1305 391641 77302 2307 2714 2714 2998 2716 157962 398156 374 374 2549 Disease name Occipital atretic cephalocele unusual facies - large feet Occipital encephalocele Occipital horn syndrome Occipital malformations of cortical development Occipital MCD Occipital pachygyria and polymicrogyria Occlusive idiopathic juxtafoveolar retinal telangiectasis Occlusive infantile arteriopathy OCCS Occult ectopic ACTH secretion Occult macular dystrophy Occult neuropathic bladder Ochoa syndrome OCMD OCR OCRL OCT deficiency Ocular albinism type 1 Ocular albinism with congenital sensorineural deafness Ocular albinism with late-onset sensorineural deafness Ocular albinism, Nettleship-Falls type Ocular coloboma - imperforate anus Ocular cystinosis Ocular form of osteogenesis imperfecta Ocular motor apraxia, Cogan type Ocular pemphigoid Oculo-cerebro-renal dystrophy Oculo-cerebro-renal syndrome Oculo-digito-esophageal-duodenal syndrome Oculo-digito-esophageal-duodenal syndrome type 1 Oculo-oto-facial dysplasia Oculo-oto-radial syndrome Oculo-palato-cerebral dwarfism Oculo-palato-cerebral syndrome Oculo-skeletal-abdominal syndrome Oculo-skeletal-renal syndrome Oculoauricular syndrome, Schorderet type Oculoauriculofrontonasal syndrome Oculoauriculovertebral dysplasia Oculoauriculovertebral spectrum Oculoauriculovertebral spectrum with radial defects ORPHA Disease name number 374 Oculoauriculovertebral syndrome 2705 Oculocerebral dysplasia 2719 2720 1647 2707 534 534 352731 79431 79434 79432 79433 79435 370091 370097 352745 79434 28378 2709 2710 2710 3339 2712 1876 1794 1154 1125 2713 99806 2506 98897 270 98897 2715 2717 2718 166272 2710 1305 391641 2722 2721 →2036 69082 Oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Preus type Oculocerebrocutaneous syndrome Oculocerebrofacial syndrome, Kaufman type Oculocerebrorenal dystrophy Oculocerebrorenal syndrome Oculocutaneous albinism type 1 Oculocutaneous albinism type 1A Oculocutaneous albinism type 1B Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism type 4 Oculocutaneous albinism type 5 Oculocutaneous albinism type 6 Oculocutaneous albinism type 7 Oculocutaneous albinism type Amish Oculocutaneous tyrosinemia Oculodental syndrome, Rutherfurd type Oculodentodigital dysplasia Oculodentoosseous dysplasia Oculoectodermal syndrome Oculofaciocardiodental syndrome Oculogastrointestinal muscular dystrophy Oculomaxillofacial dysostosis Oculomelic amyoplasia Oculomotor apraxia, Cogan type Oculoosteocutaneous syndrome Oculootodental syndrome Oculopalatoskeletal syndrome Oculopharyngeal distal myopathy Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy Oculorenocerebellar syndrome Oculotrichoanal syndrome Oculotrichodysplasia ODCD ODDD syndrome ODED syndrome ODED syndrome type 1 Odonto-onycho dysplasia - alopecia Odonto-onycho-dermal dysplasia Odonto-onycho-hypohidrotic dysplasia - midline scalp defects Odonto-tricho-ungual-digitopalmar syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 108 ORPHA number Disease name Odonto-tricho-ungual-digito69082 palmar syndrome, Mendoza- Valiente type 166272 Odontochondrodysplasia 247685 Odontohypophosphatasia 77295 Odontoleukodystrophy 2724 1811 2723 1487 93929 2676 2792 2712 2750 2751 2752 2753 2919 2754 90649 2755 141007 2756 141000 141327 141330 369902 2750 2750 391655 424080 276432 75382 75382 1186 2728 2728 64739 1934 3411 666 216796 216804 216812 216820 216828 2729 93293 261638 Odontomatosis - aortae esophagus stenosis Odontomicronychial dysplasia Odontotrichomelic syndrome ODP OEIS complex Oerter-Friedman-Anderson syndrome OFC syndrome OFCD syndrome OFD1 OFD2 OFD3 OFD4 OFD5 OFD6 OFD7 OFD8 OFD9 OFD10 OFD11 OFD12 OFD13 OFD14 OFDI OFDSI Off-periods in Parkinson disease not responding to oral treatment OGCT of pancreas Ogden syndrome Oguchi disease Oguchi syndrome Ohaha syndrome Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome OHSS Ohtahara syndrome OHVIRA syndrome OI OI type 1 OI type 2 OI type 3 OI type 4 OI type 5 Okamoto syndrome Okihiro syndrome Okihiro syndrome due to 20q13 microdeletion ORPHA number 261647 261638 261638 69088 79458 478 1957 85410 247839 247846 251656 75378 75378 251627 99798 300576 2260 2260 137831 2920 3363 2732 166063 296 659 1183 247834 39041 2741 2733 660 93929 3164 490 210115 1183 319266 3191 2737 137675 352540 352540 661 Disease name Okihiro syndrome due to a point mutation Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to monosomy 20q13 OL-EDA-ID Oley syndrome Olfacto-genital pathological sequence Olfactory neuroblastoma Oligoarticular juvenile arthritis Oligoarticular juvenile arthritis with anti-nuclear antibodies Oligoarticular juvenile arthritis without anti-nuclear antibodies Oligoastrocytoma Oligocone syndrome Oligocone trichromacy Oligodendroglioma Oligodontia Oligodontia - cancer predisposition syndrome Oligomeganephronia Oligomeganephronic renal hypoplasia Oligophrenin-1 syndrome Oliver syndrome Oliver-McFarlane syndrome Olivopontocerebellar atrophy deafness Olivopontocerebellar hypoplasia Ollier disease Olmsted syndrome OMA syndrome OMD Omenn syndrome OMM syndrome Omodysplasia Omphalocele Omphalocele - cloacal exstrophy imperforate anus - spinal defect Omphalocele syndrome, Shprintzen-Goldberg type Omphalomesenteric cyst OMPP OMS Omsk hemorrhagic fever Onat syndrome Onchocerciasis Oncocytic cardiomyopathy Oncogenic hypophosphatemic osteomalacia Oncogenic osteomalacia Ondine curse ORPHA Disease name number 661 Ondine syndrome 99803 Ondine-Hirschsprung disease 99803 Ondine-Hirschsprung syndrome 2739 ONMR syndrome 238744 Onycho-digito-mammary syndrome →33364 300504 79153 300512 2614 2786 99806 2721 98890 67036 98897 268363 137831 1106 2741 1186 2743 2742 1308 2745 2745 1308 1308 97297 1786 2745 270 256 2788 2746 1183 1183 363746 1215 3349 98890 401777 313800 Onycho-tricho-dysplasia neutropenia Onychocytic matricoma Onychodystrophy totalis Onychomatricoma Onychoosteodysplasia OOCHS OOD OODD OPA2 OPA3, autosomal dominant OPDM Open iniencephaly OPHN1 syndrome Ophthalmoacromelic syndrome Ophthalmomandibulomelic dysplasia Ophthalmoplegia - hypotonia ataxia - hypoacusis - athetosis Ophthalmoplegia - intellectual disability - lingua scrotalis Ophthalmoplegia - myalgia tubular aggregates Opitz C trigonocephaly Opitz G/BBB syndrome Opitz syndrome Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome Opitz trigonocephaly-like syndrome Opitz-Caltabiano syndrome Opitz-Frias syndrome OPMD Oppenheim dystonia OPPG Opsismodysplasia Opsoclonus-myoclonus syndrome Opsoclonus-myoclonus-ataxia syndrome Optic ataxia-gaze apraxiasimultanagnosia syndrome Optic atrophy - deafnesspolyneuropathy - myopathy Optic atrophy - ophthalmoplegia ptosis - deafness - myopathy Optic atrophy type 2 Optic atrophy-intellectual disability syndrome Optic nerve edema-splenomegaly syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 109 ORPHA Disease name number 2086 Optic pathway glioma 413681 31142 357154 2750 2751 2752 2753 2919 2754 90649 2755 141007 2756 141000 141327 141330 369902 141007 2755 141000 1647 52994 268139 2612 166421 49041 414 664 664 2319 2750 2751 2752 2753 2919 2754 →2750 2755 141007 2756 141000 141327 141330 369902 Oral antidiabetic drugs toxicity or dose selection Oral erosive lichen Oral submucous fibrosis Oral-facial-digital syndrome type 1 Oral-facial-digital syndrome type 2 Oral-facial-digital syndrome type 3 Oral-facial-digital syndrome type 4 Oral-facial-digital syndrome type 5 Oral-facial-digital syndrome type 6 Oral-facial-digital syndrome type 7 Oral-facial-digital syndrome type 8 Oral-facial-digital syndrome type 9 Oral-facial-digital syndrome type 10 Oral-facial-digital syndrome type 11 Oral-facial-digital syndrome type 12 Oral-facial-digital syndrome type 13 Oral-facial-digital syndrome type 14 Oral-facial-digital syndrome with retinal abnormalities Oral-facial-digital syndrome, Edwards type Oral-facial-digital syndrome, Gabrielli type Orbital cyst with cerebral and focal dermal malformations Orbital leiomyoma Orbital medulloepithelioma Organoid nevus syndrome Orgasm-induced seizures Ormond disease Ornithine aminotransferase deficiency Ornithine carbamoyltransferase deficiency Ornithine transcarbamylase deficiency Orocraniodigital syndrome Orofaciodigital syndrome type 1 Orofaciodigital syndrome type 2 Orofaciodigital syndrome type 3 Orofaciodigital syndrome type 4 Orofaciodigital syndrome type 5 Orofaciodigital syndrome type 6 Orofaciodigital syndrome type 7 Orofaciodigital syndrome type 8 Orofaciodigital syndrome type 9 Orofaciodigital syndrome type 10 Orofaciodigital syndrome type 11 Orofaciodigital syndrome type 12 Orofaciodigital syndrome type 13 Orofaciodigital syndrome type 14 ORPHA number 2756 141007 2755 141000 2919 93958 141077 30 30 64692 2998 93382 97335 2760 729 1427 357154 140436 73230 58040 2764 251262 3314 2054 2380 97332 97335 2653 2653 800 2768 97337 3314 2380 97336 97332 2054 97335 Disease name Orofaciodigital syndrome with fibular aplasia Orofaciodigital syndrome with retinal abnormalities Orofaciodigital syndrome, Edwards type Orofaciodigital syndrome, Gabrielli type Orofaciodigital syndrome, Thurston type Oromandibular dystonia Oropharyngeal teratoma Oroticaciduria Orotidylic decarboxylase deficiency Oroya fever OSA syndrome Osebold-Remondini syndrome Osgood-Schlatter disease OSLAM syndrome Osler-Vaquez disease OSMED OSMF Osseous vascular malformation Ossification anomalies psychomotor development delay Osteoblastoma Osteochondritis dissecans Osteochondritis dissecans and short stature Osteochondritis of phalangeal epiphyses Osteochondritis of tarsal/metatarsal bone Osteochondritis of the capital femoral epiphysis Osteochondritis of the lunate bone Osteochondritis of the tibial tubercle Osteochondrodysplatic dwarfism deafness - retinitis pigmentosa Osteochondrodysplatic nanism deafness - retinitis pigmentosa Osteochondromuscular dystrophy Osteochondrosis deformans tibiae Osteochondrosis of patella Osteochondrosis of phalangeal epiphyses Osteochondrosis of the capital femoral epiphysis Osteochondrosis of the capital humerus Osteochondrosis of the lunate bone Osteochondrosis of the tarsal bone Osteochondrosis of the tibial tubercle ORPHA number 424080 2763 2763 2484 249 666 2771 2773 216796 216804 216812 216820 216828 668 2645 2775 2777 399293 2780 2779 2324 91133 178389 53 2785 94063 2787 2786 2788 666 668 2760 75325 178377 2905 Disease name Osteoclastic giant cell tumor of pancreas Osteocraniosplenic syndrome Osteocraniostenosis Osteodysplasty, Melnick-Needles type Osteofibrous dysplasia Osteogenesis imperfecta Osteogenesis imperfecta congenital joint contractures Osteogenesis imperfecta retinopathy - seizures - intellectual disability Osteogenesis imperfecta type 1 Osteogenesis imperfecta type 2 Osteogenesis imperfecta type 3 Osteogenesis imperfecta type 4 Osteogenesis imperfecta type 5 Osteogenic sarcoma Osteoglophonic dwarfism Osteolysis hereditary multicentric Osteomesopyknosis Osteonecrosis of the jaw Osteopathia striata - cranial sclerosis Osteopathia striata - pigmentary dermopathy - white forelock Osteopenia - intellectual disability sparse hair Osteopenia - myopia - hearing loss intellectual disability - facial dysmorphism Osteopetrosis hypogammaglobulinemia Osteopetrosis autosomal dominant type 2 Osteopetrosis with renal tubular acidosis Osteopoikilosis - short stature intellectual disability Osteoporosis - macrocephaly blindness - joint hyperlaxity Osteoporosis - oculocutaneous hypopigmentation syndrome Osteoporosis - pseudoglioma Osteopsathyrosis Osteosarcoma Osteosarcoma - limb anomalies erythroid macrocytosis Osteosclerosis - ichthyosis premature ovarian failure Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerotic myeloma → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 110 ORPHA number 1338 664 1308 2791 2791 2792 141136 141136 2793 669 90650 90652 1427 69082 50943 1179 213504 213512 398971 314473 314478 206484 64739 398987 99916 398987 398961 99916 206473 99853 137634 3203 326 832 31 33572 79302 36355 35664 35120 397596 98971 2796 Disease name Ostravik-Lindemann-Solberg syndrome OTC deficiency OTCS Otodental dysplasia Otodental syndrome Otofaciocervical syndrome Otomandibular dysostosis Otomandibular syndrome Otoonychoperoneal syndrome Otopalatodigital syndrome Otopalatodigital syndrome type 1 Otopalatodigital syndrome type 2 Otospondylomegaepiphyseal dysplasia OTUDP syndrome Oudtshoorn disease Ouvrier-Billson syndrome Ovarian adenocarcinoma Ovarian carcinosarcoma Ovarian clear cell adenocarcinoma Ovarian fibroma Ovarian fibrothecoma Ovarian gonadoblastoma Ovarian hyperstimulation syndrome Ovarian immature teratoma Ovarian malignant Sertoli-Leydig cell tumor Ovarian malignant teratoma Ovarian mucinous adenocarcinoma Ovarian Sertoli-Leydig cell cancer Ovarian tumor of low malignant potential Ovarioleukodystrophy Overgrowth - macrocephaly - facial dysmorphism Overhydrated hereditary stomatocytosis Owren disease OXCT1 deficiency Oxoglutaricaciduria Oxoprolinuria due to oxoprolinase deficiency Oxysterol 7-alpha-hydroxylase deficiency P2Y12 defect P5CS deficiency P5N deficiency p110delta-activating mutation causing senescent T-cells, , lymphadenopathy and immunodeficiency PACD Pachydermoperiostosis ORPHA number →2995 2798 2309 1952 140989 706 441 95232 180275 180275 357131 52430 52430 178517 991 716 1993 37202 324636 99736 99736 64686 300501 90797 1388 171695 672 884 2804 737 2184 659 50944 2342 85112 34217 140966 2202 Disease name Pachygyria - epilepsy - intellectual disability - dysmorphism Pachygyria - intellectual disability epilepsy Pachyonychia congenita Pacman dysplasia PACNS PAD PAF PAFAH1B1-related lissencephaly Paget disease of the nipple Paget's disease of the nipple Paget-Schrotter disease Pagetoid amyotrophic lateral sclerosis Pagetoid neuroskeletal syndrome Pagetoid reticulosis, WoringerKolopp type PAGOD syndrome PAH deficiency Pai syndrome Painful bladder syndrome Painful bruising syndrome Painful congenital myotonia Painful myotonia Painful ophthalmoplegia Painful orbital and systemic neurofibromas-marfanoid habitus syndrome PAIS Palatodigital syndrome, CatelManzke type Pallidopyramidal syndrome Pallister-Hall syndrome Pallister-Killian syndrome Pallister-W syndrome Palmar, plantar and disseminated porokeratosis Palmer-Pagon syndrome Palmoplantar and periorificial keratoderma Palmoplantar hyperkeratosis cystic eyelids - hypodontia hypotrichosis Palmoplantar hyperkeratosis periodontopathia - onychogryposis Palmoplantar hyperkeratosis - XX sex reversal - predisposition to squamous cell carcinoma Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy Palmoplantar hyperkeratosis, Nagashima type Palmoplantar hyperkeratosisdeafness syndrome ORPHA number 2198 2202 384 2201 86919 50944 2342 85112 1010 1366 34217 →2199 140966 2202 2198 2202 384 2201 736 163927 397596 767 93564 98815 424039 424046 93292 65288 28455 97282 309108 2255 199337 Disease name Palmoplantar hyperkeratosisesophageal carcinoma syndrome Palmoplantar hyperkeratosishearing loss syndrome Palmoplantar hyperkeratosissclerodactyly syndrome Palmoplantar hyperkeratosisspastic paralysis syndrome Palmoplantar keratoderma clinodactyly Palmoplantar keratoderma - cystic eyelids - hypodontia - hypotrichosis Palmoplantar keratoderma periodontopathia - onychogryposis Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma Palmoplantar keratoderma and congenital alopecia, Stevanovic type Palmoplantar keratoderma and congenital alopecia, Wallis type Palmoplantar keratoderma with arrythmogenic cardiomyopathy Palmoplantar keratoderma with tonotubular keratin Palmoplantar keratoderma, Nagashima type Palmoplantar keratodermadeafness syndrome Palmoplantar keratodermaesophageal carcinoma syndrome Palmoplantar keratoderma-hearing loss syndrome Palmoplantar keratodermasclerodactyly syndrome Palmoplantar keratoderma-spastic paralysis syndrome Palmoplantar porokeratosis of Mantoux Palmoplantar pustulosis PALSI PAN PAN, pediatric onset Panayiotopoulos syndrome Panccreatic carcinoid carcinoma Pancreatic acinar cell carcinoma Pancreatic adenoma Pancreatic and cerebellar agenesis Pancreatic beta cell agenesis with neonatal diabetes mellitus Pancreatic cholera Pancreatic colipase deficiency Pancreatic hypoplasia - diabetes congenital heart disease Pancreatic insufficiency - anemia hyperostosis → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 111 ORPHA number 811 424058 424053 424080 97278 424073 424065 424039 309031 309031 424080 677 317473 401764 66624 95513 90695 97336 90159 157850 69126 213817 213726 208600 251962 146 319298 319298 251915 1475 2807 678 2750 86819 228264 Disease name Pancreatic insufficiency and bone marrow dysfunction Pancreatic intraductal papillary mucinous carcinoma Pancreatic mucinous cystadenocarcinoma Pancreatic osteoclastic giant cell tumor Pancreatic polypeptidoma Pancreatic serous cystadenocarcinoma Pancreatic solid pseudopapillary carcinoma Pancreatic squamous cell carcinoma Pancreatic triacylglycerol lipase deficiency Pancreatic triglyceride lipase deficiency Pancreatic undifferentiated carcinoma with osteoclast-like giant cells Pancreatoblastoma Pancytopenia due to IKZF1 mutations Pancytopenia-developmental delay syndrome PANDAS Panhypophysitis Panhypopituitarism Panner disease Panniculitis and localized lipodystrophy Pantothenate kinase-associated neurodegeneration PAPA syndrome Papillary carcinoma of the cervix uteri Papillary carcinoma of the corpus uteri Papillary fibroelastoma of the heart Papillary glioneuronal tumor Papillary or follicular thyroid carcinoma Papillary renal cell adenocarcinoma Papillary renal cell carcinoma Papillary tumour of the pineal region Papillo-renal syndrome Papilloma of choroid plexus Papillon-Lefèvre syndrome Papillon-Léage-Psaume syndrome Papular atrichia Papular elastorrhexis ORPHA number 313936 90395 158008 679 99056 73260 324299 97286 326 141242 684 684 2812 99889 1183 1183 63455 71505 231445 231445 2823 2824 31827 2646 363478 143 99745 2825 268826 60015 251290 251290 851 306674 199351 90307 171695 314632 178509 97355 Disease name Papular epidermal nevi with skyline basal cell layers syndrome Papular mucinosis of infancy Papular xanthoma Papulosis atrophican maligna Parachute tricuspid valve Paracoccidioidomycosis Paraganglioma - somatostatinoma polycythemia Paraganglioma and gastric stromal sarcoma Parahemophilia Paramedian nasal cleft Paramyotonia congenita Paramyotonia congenita of Von Eulenburg Parana hard-skin syndrome Paraneoplastic Cushing syndrome Paraneoplastic opsoclonusmyoclonus Paraneoplastic opsoclonusmyoclonus-ataxia syndrome Paraneoplastic pemphigus Paraneoplastic retinopathy Paraparetic variant of GBS Paraparetic variant of GuillainBarré syndrome Paraplegia - brachydactyly - coneshaped epiphysis Paraplegia - intellectual disability hyperkeratosis Paraquat poisoning Parastremmatic dwarfism Paratesticular adenocarcinoma Parathyroid carcinoma Paratyphoid fever PARC syndrome Parietal encephalocele Parietal foramina Parietal foramina with cleidocranial dysostosis Parietal foramina with cleidocranial dysplasia Paris-Trousseau thrombocytopenia PARK9 PARK14 Parkes Weber syndrome Parkinsonian-pyramidal syndrome Parkinsonism due to ATP13A2 deficiency Parkinsonism with alveolar hypoventilation and mental depression Parkinsonism with dementia of Guadeloupe ORPHA number 90020 90035 53583 98811 46348 157835 98812 98812 →98784 98809 98809 31709 98812 447 98810 3286 98810 1214 574 79087 2805 381 90797 90797 1330 1330 1646 98992 401959 98950 90076 79312 261318 261318 101046 101046 2704 Disease name Parkinsonism-dementia-ALS complex Paroxysmal cold hemoglobinuria Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity Paroxysmal exertion-induced dyskinesia Paroxysmal extreme pain disorder Paroxysmal hemicrania Paroxysmal hypnagogic dyskinesia Paroxysmal hypnagogic dystonia Paroxysmal hypnogenic dyskinesia Paroxysmal kinesigenic choreathetosis Paroxysmal kinesigenic dyskinesia Paroxysmal kinesigenic dyskinesia and infantile convulsions Paroxysmal nocturnal dyskinesia Paroxysmal nocturnal hemoglobinuria Paroxysmal non-kinesigenic dyskinesia Paroxysmal ventricular fibrillation Paroxystic non-kinesigenic choreoathetosis Parry-Romberg syndrome Partial 21q monosomy Partial acquired lipodystrophy Partial agenesis of the pancreas Partial albinism - immunodeficiency Partial androgen insensitivity syndrome Partial androgen resistance syndrome Partial atrioventricular canal Partial atrioventricular canal defect Partial chromosome Y deletion Partial congenital cataract Partial corpus callosum agenesiscerebellar vermis hypoplasia with posterior fossa cysts syndrome Partial cryptophthalmia Partial deep dermal and full thickness burns Partial deficiency of methylmalonyl-CoA mutase Partial duplication of chromosome 20p Partial duplication of the short arm of chromosome 20 Partial epilepsy with auditory aura Partial epilepsy with auditory features Partial facial palsy with urinary abnormalities → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 112 ORPHA number 744 254693 79292 343 254693 2805 157769 261318 261318 85453 94083 →193 94083 295 1394 42775 289478 1252 1252 2278 3378 →1509 86789 295041 295038 706 228190 706 228190 46627 99108 254531 254525 261304 261304 254525 261304 254525 261304 Disease name Partial gigantism - nevi hemihypertrophy - macrocephaly Partial hydatidiform mole Partial LCAT deficiency Partial mevalonate kinase deficiency Partial molar pregnancy Partial pancreatic agenesis Partial situs inversus Partial trisomy of chromosome 20p Partial trisomy of the short arm of chromosome 20 Partington disease Partington syndrome Partington-Anderson syndrome Partington-Mulley syndrome Parvovirus antenatal infection Pascual-Castroviejo syndrome type 1 Pascual-Castroviejo syndrome type 2 PASH syndrome Pashayan syndrome Pashayan-Prozansky syndrome Passwell-Goodman-Siprkowski syndrome Patau syndrome Patella aplasia - coxa vara - tarsal synostosis Patella aplasia/hypoplasia Patella aplasia/hypoplasia, bilateral Patella aplasia/hypoplasia, unilateral Patent arterial duct Patent arterial duct - bicuspid aortic valve - hand anomalies Patent ductus arteriosus Patent ductus arteriosus - bicuspid aortic valve - hand anomalies Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Patent foramen ovale Paternal 14q32.2 hypomethylation syndrome Paternal 14q32.2 microdeletion syndrome Paternal 20q13.2-q13.3 microdeletion syndrome Paternal 20q13.2q13.3 microdeletion syndrome Paternal del(14)(q32.2) Paternal del(20)(q13.2q13.3) Paternal monosomy 14q32.2 Paternal monosomy 20q13.2-q13.3 ORPHA Disease name number 261304 Paternal monosomy 20q13.2q13.3 251004 96190 96191 96192 99324 96334 96194 96195 261524 2439 2439 79136 93126 97563 97564 85410 247839 247846 1330 75373 289666 2309 54247 88628 231426 231426 1578 247198 244 178544 178540 90035 2254 2524 97249 166063 166068 166073 284339 Paternal uniparental disomy of chromosome 1 Paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 6 Paternal uniparental disomy of chromosome 7 Paternal uniparental disomy of chromosome 13 Paternal uniparental disomy of chromosome 14 Paternal uniparental disomy of chromosome 20 Paternal uniparental disomy of chromosome 21 Paternal uniparental disomy of chromosome X Patterson-Stevenson syndrome Patterson-Stevenson-Fontaine syndrome PATX Pauci-immune glomerulonephritis Pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis without ANCA Pauciarticular chronic arthritis Pauciarticular chronic arthritis with anti-nuclear antibodies Pauciarticular chronic arthritis without anti-nuclear antibodies PAVC PBCRA PBL PC PCA PCARP PCB variant of GBS PCB variant of Guillain-Barré syndrome PCBD deficiency PCCA PCD PCDLBCL,LT PCFCL PCH PCH1 PCH2 PCH3 PCH4 PCH5 PCH6 PCH7 ORPHA Disease name number 324569 PCH8 369920 PCH9 97249 PCH with optic atrophy 97249 PCH without dyskinesia 411493 PCH10 71528 PCI deficiency 2924 PCLD 178536 PCMZL 46135 PCNSL 140989 PCNSV 101330 PCT 163746 PCWH 90020 PDALS 293462 PDCD 289157 PDDRI 765 PDH 79246 79243 255138 765 2796 85453 75496 699 2835 98811 66624 66624 93682 33402 33402 93564 93552 263548 263553 2836 99807 48686 702 702 280229 280210 280219 PDH phosphatase deficiency PDHAD PDHBD PDHC PDP PDR PDS Pearson syndrome Pectus excavatum - macrocephaly dysplastic nails PED Pediatric autoimmune disorders associated with Streptococcus infections Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections Pediatric Castleman disease Pediatric HCC Pediatric hepatocellular carcinoma Pediatric polyarteritis nodosa Pediatric systemic lupus erythematosus Peeling skin syndrome type A Peeling skin syndrome type B PEHO syndrome PEHO-like syndrome PEL Pelizaeus-Merzbacher brain sclerosis Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease type II Pelizaeus-Merzbacher disease, classic form → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 113 ORPHA number 280210 280234 280224 280270 280293 280282 280288 97352 2837 137672 2840 83628 2839 93333 63275 79480 79481 79479 704 994 1466 705 398053 49 398058 49 2842 313936 11 1335 11 2843 352447 2905 79316 79317 2880 2576 767 2847 2576 58208 2848 Disease name Pelizaeus-Merzbacher disease, connatal form Pelizaeus-Merzbacher disease, null syndrome Pelizaeus-Merzbacher disease, transitional form Pelizaeus-Merzbacher-like disease Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Pelizaeus-Merzbacher-like disease due to GJC2 mutation Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Pellagra Pellagra-like skin rash - neurological manifestations Pellucid marginal degeneration Pelvic dysplasia - arthrogryposis of lower limbs PELVIS syndrome Pelvis-shoulder dysplasia Pelviscapular dysplasia Pemphigoid gestationis Pemphigus erythematosus Pemphigus foliaceus Pemphigus vegetans Pemphigus vulgaris Pena-Shokeir syndrome type 1 Pena-Shokeir syndrome type 2 Pendred syndrome Penile adenocarcinoma Penile agenesis Penile squamous cell carcinoma Penis agenesis Penoscrotal transposition PENS syndrome Penta-X Pentalogy of Cantrell Pentasomy X Pentosuria PEO - myopathy - emaciation PEP syndrome PEPCK1 deficiency PEPCK2 deficiency PEPCK deficiency Perheentupa syndrome Periarteritis nodosa Pericardial and diaphragmatic defect Pericardial constriction - growth failure Pericarditis Pericarditis - arthropathy camptodactyly ORPHA Disease name number 137577 Perinatal asphyxia 137577 Perinatal hypoxia 313855 Perinatal lethal bent bone dysplasia 85212 247623 83628 95706 65250 342 42642 680 397750 397755 79136 139426 563 163746 1795 252164 2400 84142 213812 213630 90120 171848 397744 397744 370348 370348 97927 168816 171676 98892 99885 Perinatal lethal Gaucher disease 247623 Perinatal lethal hypophosphatasia 247623 ORPHA Disease name number 2849 Perlman syndrome Perinatal lethal phosphoethanolaminuria Perinatal lethal Rathburn disease Perineal hemangioma - external genitalia malformations lipomyelomeningocele - vesicorenal abnormalities - imperforate anus Perineal, scrotal or penoscrotal hypospadias Perineural cyst Periodic disease Periodic fever-aphtous stomatitispharyngitis-adenopathy syndrome Periodic paralysis type 3 Periodic paralysis with later-onset distal motor neuropathy Periodic paralysis with transient compartment-like syndrome Periodic vestibulocerebellar ataxia Perioral myoclonia with absences Peripartum cardiomyopathy Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease Peripheral dysostosis Peripheral fibroblastoma Peripheral motor neuropathy dysautonomia Peripheral nerve hyperexcitability Peripheral neuroectodermal cancer of cervix uteri Peripheral neuroectodermal cancer of corpus uteri Peripheral neuropathy and optic atrophy Peripheral neuropathy, Fiskerstrand type Peripheral neuropathy-myopathyhoarseness-deafness syndrome Peripheral neuropathy-myopathyhoarseness-hearing loss syndrome Peripheral PNET Peripheral primitive neuroectodermal tumor Peripheral resistance to thyroid hormones Peritoneal cystic mesothelioma Periventricular leukomalacia Periventricular nodular heterotopia 65288 2850 2971 93598 2855 75374 178509 99120 91495 99076 91495 398147 99109 99109 99109 2856 2856 706 97341 300324 300324 2380 1489 708 101033 709 708 709 2776 2963 2869 42642 90042 412206 710 93258 Permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis Perniola-Krajewska-Carnevale syndrome Peroxisomal acyl-CoA oxidase deficiency Peroxisomal alanine-glyoxylate aminotransferase deficiency Perrault syndrome PERRS Perry syndrome Persistent eustachian valve Persistent fetal vasculature syndrome Persistent fifth aortic arch Persistent hyperplastic primary vitreous Persistent idiopathic facial pain Persistent left superior caval vein connecting to the left-sided atrium Persistent left superior vena cava connecting to the left-sided atrium Persistent left SVC connecting to the left-sided atrium Persistent Müllerian derivatives Persistent Müllerian duct syndrome Persistent patency of the arterial duct Persistent placoid maculopathy Persistent polyclonal B-cell lymphocytosis Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes Perthes disease Pertussis Peters anomaly Peters anomaly - cataract Peters anomaly with short limb dwarfism Peters congenital glaucoma Peters plus syndrome Petit-Fryns syndrome Petty-Laxova-Wiedemann syndrome Peutz-Jeghers syndrome PFAPA syndrome PFCP PFE Pfeiffer syndrome Pfeiffer syndrome type 1 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 114 ORPHA Disease name number 93259 Pfeiffer syndrome type 2 93260 Pfeiffer syndrome type 3 3224 Pfeiffer-Kapferer syndrome 2921 2871 2872 33577 2019 172 79306 79304 79305 91495 319646 251962 757 88938 88939 88940 300525 300530 756 42775 209959 209959 209959 209959 757 209959 79483 79484 2874 2875 79483 79485 79484 79485 352636 352636 171848 231426 231426 231426 231426 2876 Pfeiffer-Mayer syndrome Pfeiffer-Palm-Teller syndrome Pfeiffer-Singer-Zschiesche syndrome Pfeiffer-Weber-Christian syndrome PFFD PFIC PFIC1 PFIC2 PFIC3 PFVS PGM-CDG PGNT PHA2 PHA2A PHA2B PHA2C PHA2D PHA2E PHA type 1 PHACE syndrome Phacoallergic endophthalmitis Phacoanaphylactic uveitis Phacoantigenic endophthalmitis Phacolytic glaucoma PHAII Phako-anaphylactic endophthalmitis Phakomatosis cesioflammea Phakomatosis cesiomarmorata Phakomatosis pigmentokeratotica Phakomatosis pigmentovascularis Phakomatosis pigmentovascularis type 2 Phakomatosis pigmentovascularis type 3 Phakomatosis pigmentovascularis type 5 Phakomatosis spilorosea Phalangeal acro-osteolysis Phalangeal microgeodic syndrome PHARC syndrome Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial weakness Pharyngo-cervico-brachial variant of GBS Pharyngo-cervico-brachial variant of Guillain-Barré syndrome PHAVER syndrome ORPHA Disease name number 228410 PHD syndrome 48652 Phelan-McDermid syndrome 1919 Phenobarbital embryopathy 84064 716 716 226 2209 1912 414750 254723 75508 69084 294975 2878 3439 2879 534 79316 79317 2880 436 711 35069 79318 79319 3222 284417 166409 91495 30924 180261 180261 773 2882 →33364 505 2885 2884 →1263 Phenotypic diarrhea Phenylalanine hydroxylase deficiency Phenylketonuria Phenylketonuria type 2 Phenylketonuric embryopathy Phenytoin embryofetopathy Phenytoin or carbamazepine toxicity PHID Phlebectatic osteohypoplastic angiodysplasia PHNED Phocomelia Phocomelia - ectrodactyly deafness - sinus arrhythmia Phocomelia - thrombocytopenia encephalocele - urogenital malformations Phocomelia, Schinzel type Phosphatidylinositol 4,5biphosphate 5-phosphatase deficiency Phosphoenolpyruvate carboxykinase 1 deficiency Phosphoenolpyruvate carboxykinase 2 deficiency Phosphoenolpyruvate carboxykinase deficiency Phosphoethanolaminuria Phosphoglucomutase 1 deficiency Phospholipase A2-associated neurodegeneration Phosphomannomutase 2 deficiency Phosphomannose isomerase deficiency Phosphoribosylpyrophosphate synthetase superactivity Phosphoserine aminotransferase deficiency Photosensitive epilepsy PHPV PHSH Phyllode tumor Phylloide tumor Phytanic acid oxidase deficiency Phytosterolemia PIBIDS syndrome Piccardi-Lassueur-Little syndrome Piebald trait - neurologic defects Piebaldism Piepkorn dysplasia ORPHA Disease name number 1566 Pierquin syndrome Pierre Robin sequence - congenital heart defect - talipes Pierre Robin sequence - faciodigital 2888 anomaly Pierre Robin sequence - fetal 3450 chondrodysplasia Pierre Robin sequence 1388 hyperphalangy - clinodactyly Pierre Robin sequence 3104 oligodactyly Pierre Robin syndrome - congenital 2886 heart defect - talipes Pierre Robin syndrome - faciodigital 2888 anomaly Pierre Robin syndrome - fetal 3450 chondrodysplasia Pierre Robin syndrome 1388 hyperphalangy - clinodactyly 2670 Pierson syndrome 398147 PIFP 217557 PIG 99908 Pigeon-breeder lung disease 3474 PIGL-CDG 83639 PIGM-CDG Pigment anomaly - ectrodactyly 978 hypodontia Pigmentary disorder with hearing 999 loss 64755 Pigmentary hairy epidermal nevus 435 Pigmentary mosaicism, Ito type Pigmentary orthochromatic 313808 leukodystrophy Pigmentary retinopathy 3084 intellectual disability Pigmented hypertrichosis with →168569 insulin dependent diabetes mellitus syndrome Pigmented paravenous 251295 retinochoroidal atrophy 66627 Pigmented villonodular synovitis 169 Pili annulati 720 Pili bifurcati 79492 Pili gemini 79492 Pili multigemini 2889 Pili torti Pili torti - developmental delay 2891 neurological abnormalities 2890 Pili torti - onychodysplasia 1410 Pili trianguli et canaliculi 2741 Pillay syndrome 251612 Pilocytic astrocytoma Pilodental dysplasia - refractive 2892 errors 91414 Pilomatricoma 2886 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 115 ORPHA Disease name number 228379 Pilomatrix dysplasia 91414 Pilomatrixoma 251615 Pilomyxoid astrocytoma 2894 251919 251909 251912 49382 3353 247165 155838 →2510 279904 →79189 2896 221150 →280 93395 251623 95613 300385 96253 91354 91350 96253 91351 99725 2965 95496 91347 2897 1078 2869 157850 216873 216866 238455 716 226 199351 99928 707 300359 Pilotto syndrome Pineal parenchymal tumor of intermediate differenciation Pineoblastoma Pineocytoma Pingelapese blindness Pinheiro-Freire Maia-Miranda syndrome Pink disease Pinnae fistula or cyst Pinsky-Di George-Harley syndrome PIOL Pipecolic acidemia Pitt-Hopkins syndrome Pitt-Hopkins-like syndrome Pitt-Rogers-Danks syndrome Pitt-Williams brachydactyly Pituicytoma Pituitary apoplexy Pituitary carcinoma Pituitary corticotroph microadenoma Pituitary deficiency due to empty sella turcica syndrome Pituitary deficiency due to Rathke's pouch cysts Pituitary dependent Cushing syndrome Pituitary dermoid and epidermoid cysts Pituitary gigantism Pituitary lactotrophic adenoma Pituitary stalk interruption syndrome Pituitary thyrotrophic adenoma Pityriasis rubra pilaris Piussan-Lenaerts-Mathieu syndrome PJS PKAN PKAN, atypical form PKAN, classic form PKDYS PKU PKU type 2 PLA2G6-related dystoniaparkinsonism Placental site trophoblastic tumor Plague PLAID ORPHA number 79141 79141 35069 199251 251515 158769 29073 329 289666 86855 722 721 79434 85166 85166 85166 2899 300359 137810 99969 293199 251607 99131 284343 64742 284343 99933 99934 99935 2770 2770 2375 280234 678 35689 99969 85166 54028 732 764 702 2856 280620 Disease name Plamoplantar hyperkeratosis nummularis Plamoplantar keratoderma nummularis PLAN Plantar fibromatosis Plantar flexion contracture Plaque-form urticaria pigmentosa Plasma cell myeloma Plasma thromboplastin antecedent deficiency Plasmablastic lymphoma Plasmacytoma Plasminogen deficiency type 1 Platelet alpha-granule deficiency Platinum oculocutaneous albinism Platyspondylic dysplasia, Torrance type Platyspondylic dysplasia, TorranceLuton type Platyspondylic lethal skeletal dysplasia, Torrance type Platyspondyly - amelogenesis imperfecta PLCG2-associated antibody deficiency and immune dysregulation PLCNA Pleomorphic liposarcoma Pleomorphic rhabdomyosarcoma Pleomorphic xanthoastrocytoma Pleuro-pericardial cyst Pleuro-pulmonary blastoma family tumor susceptibility syndrome Pleuropulmonary blastoma Pleuropulmonary blastoma family tumor susceptibility syndrome Pleuropulmonary blastoma type 1 Pleuropulmonary blastoma type 2 Pleuropulmonary blastoma type 3 PLO-SL PLOSL Plott syndrome PLP1 null syndrome PLS PLS PLS PLSD-T Plummer-Vinson syndrome PM PM PMD PMDS PME type 6 ORPHA number 352596 PMED 280270 PMLD 280282 PMLD1 79318 26790 99885 64741 55655 723 90066 447 760 79096 79096 246 2905 2825 2908 2909 221008 221016 221046 221046 279947 130 2911 2911 2911 313808 2912 330009 →33364 11 29207 767 85435 85408 247854 247861 2770 Disease name PMM2-CDG PMP PNDM Pneumoblastoma Pneumococcal meningitis Pneumocystosis Pneumonia caused by Pseudomonas aeruginosa infection PNH PNP deficiency PNPO deficiency PNPO-related neonatal epileptic encephalopathy POADS POEMS syndrome Poikiloderma - alopecia retrognathism - cleft palate Poikiloderma of Kindler Poikiloderma of RothmundThomson Poikiloderma of RothmundThomson type 1 Poikiloderma of RothmundThomson type 2 Poikiloderma with neutropenia Poikiloderma with neutropenia, Clericuzio type POIS Pokkuri death syndrome Poland anomaly Poland sequence Poland syndrome POLD Poliomyelitis Poliomyelitis in patients with immunodeficiencies deemed at risk Pollitt syndrome Poly-X Polyarteritis enterica Polyarteritis nodosa Polyarthritis with rheumatoid factor Polyarthritis without rheumatoid factor Polyarthritis without rheumatoid factor with anti-nuclear antibodies Polyarthritis without rheumatoid factor without anti-nuclear antibodies Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 116 ORPHA number 2795 729 729 2754 93339 295146 295144 93336 295150 295148 93337 295154 295152 2919 2917 180229 93308 93307 93311 397937 180182 2925 300573 250972 64745 1243 93569 732 2905 2926 171848 2928 639 93276 Disease name Polycystic ovaries - urethral sphincter dysfunction Polycythemia rubra vera Polycythemia vera Polydactyly - cleft lip/palate psychomotor retardation Polydactyly of a biphalangeal thumb Polydactyly of a biphalangeal thumb, bilateral Polydactyly of a biphalangeal thumb, unilateral Polydactyly of a triphalangeal thumb Polydactyly of a triphalangeal thumb, bilateral Polydactyly of a triphalangeal thumb, unilateral Polydactyly of an index finger Polydactyly of an index finger, bilateral Polydactyly of an index finger, unilateral Polydactyly postaxial with median cleft of upper lip Polydactyly-myopia syndrome Polyembryoma Polyepiphyseal dysplasia type 1 Polyepiphyseal dysplasia type 4 Polyepiphyseal dysplasia type 5 Polyglucosan body myopathy Polymastia Polymicrogyria - turricephaly hypogenitalism Polymicrogyria due to TUBB2B mutation Polymicrogyria with optic nerve hypoplasia Polymorphic eruption of pregnancy Polymorphic vitelline macular degeneration Polymyalgia rheumatica Polymyositis Polyneuropathy - endocrinopathy plasma cell dyscrasia Polyneuropathy - hand defect Polyneuropathy - hearing loss ataxia - retinitis pigmentosa cataract Polyneuropathy - intellectual disability - acromicria - premature menopause Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG Polyostotic fibrous dysplasia ORPHA Disease name number 160148 Polypoid prolapsing folds 2869 Polyps and spots syndrome 208981 141091 141091 93338 2934 295161 93405 295159 228410 139426 1183 71526 365 308552 420429 99748 269229 284339 324569 2254 2524 97249 166063 166068 166073 284339 324569 369920 411493 213777 213731 213731 213777 284400 263339 1300 95699 666 95699 Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies Polyrhinia Polyrrhinia Polysyndactyly Polysyndactyly - cardiac malformation Polysyndactyly, bilateral Polysyndactyly, Haas type Polysyndactyly, unilateral Polyvalvular heart disease syndrome POMA POMA syndrome POMC deficiency Pompe disease Pompe disease, infantile onset Pompe disease, late onset Pontiac fever Pontine tegmental cap dysplasia Pontocerebellar hypoplasia - 46,XY disorder of sex development Pontocerebellar hypoplasia due to CHMP1A mutation Pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 2 Pontocerebellar hypoplasia type 3 Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 6 Pontocerebellar hypoplasia type 7 Pontocerebellar hypoplasia type 8 Pontocerebellar hypoplasia type 9 Pontocerebellar hypoplasia type 10 Poorly differentiated endocrine carcinoma of the cervix uteri Poorly differentiated endocrine carcinoma of the corpus uteri Poorly differentiated endocrine carcinoma of the endometrium Poorly differentiated endocrine cervical carcinoma Poorly differentiated neuroendocrine carcinoma of the bladder Poorly differentiated thymic neuroendocrine carcinoma Popliteal web syndrome POR deficiency Porak and Durante disease PORD ORPHA Disease name number 2940 Porencephaly 2941 306547 735 737 166286 166286 101330 100924 100924 100924 100924 79473 2703 854 854 420584 137839 246 246 2916 2920 295008 295008 295181 295179 93334 295165 295163 93335 295169 295167 93406 2730 Porencephaly - cerebellar hypoplasia - internal malformations Porencephaly-microcephalybilateral congenital cataract syndrome Porokeratosis of Mibelli Porokeratosis plantaris palmaris et disseminata Porokeratotic eccrine nevus Porokeratotic eccrine ostial and dermal duct nevus Porphyria cutanea tarda Porphyria due to ALA dehydratase deficiency Porphyria due to ALAD deficiency Porphyria due to deltaaminolevulinate dehydratase deficiency Porphyria of Doss Porphyria variegata Port-wine nevi - mega cisterna magna - hydrocephalus Portal hypertension due to infrahepatic block Portal vein thrombosis Post-axial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Postanginal sepsis secondary to orophyngeal infection Postaxial acrodysostosis Postaxial acrofacial dysostosis Postaxial polydactyly - dental and vertebral anomalies Postaxial polydactyly - intellectual disability Postaxial polydactyly of foot Postaxial polydactyly of toes Postaxial polydactyly of toes, bilateral Postaxial polydactyly of toes, unilateral Postaxial polydactyly type A Postaxial polydactyly type A, bilateral Postaxial polydactyly type A, unilateral Postaxial polydactyly type B Postaxial polydactyly type B, bilateral Postaxial polydactyly type B, unilateral Postaxial syndactyly with metacarpal synostosis Postaxial tetramelic oligodactyly → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 117 ORPHA number 263352 97349 98971 98971 88628 54247 2064 95706 268810 98993 98973 98973 98993 93110 48435 216452 279947 563 2942 2942 2942 2942 2942 98913 163921 70568 238606 680 640 1713 52022 3316 217067 2876 2201 314566 284343 284343 300324 168829 98973 93339 Disease name Postcardiotomy right ventricular failure Postencephalitic parkinsonism Posterior amorphous corneal dystrophy Posterior amorphous stromal dystrophy Posterior column ataxia - retinitis pigmentosa Posterior cortical atrophy Posterior fusion of lumbosacral vertebrae - blepharoptosis Posterior hypospadias Posterior meningocele Posterior polar cataract Posterior polymorphous corneal dystrophy Posterior polymorphous dystrophy Posterior subcapsular cataract Posterior urethral valve Postinfectious vasculitis Postlingual non-syndromic genetic deafness Postorgasmic illness syndrome Postpartum cardiomyopathy Postpolio sequelae Postpolio syndrome Postpoliomyelitic syndrome Postpoliomyelitis sequelae Postpoliomyelitis syndrome Postsynaptic congenital myasthenic syndromes Posttransplant acute limbic encephalitis Posttransplant lymphoproliferative disease POT Potassium-sensitive normokalemic periodic paralysis Potato-grubbing palsy Potocki-Lupski syndrome Potocki-Shaffer syndrome Potter sequence - cleft lip/palate cardiopathy Pouchitis Powell-Chandra-Saal syndrome Powell-Venencie-Gordon syndrome PPAOS PPB family tumor susceptibility syndrome PPBFTDS PPBL PPC PPCD PPD1 ORPHA number 93336 PPD2 93337 PPD3 93338 PPD4 Disease name 411696 PPI-REE 411696 411696 494 79141 86923 140966 1010 1366 2202 79501 79502 38 308013 3077 189439 370348 97278 163927 308013 79502 251295 398980 324977 739 3409 739 177910 98754 98793 177901 177904 398069 177907 398073 171829 398079 2956 PPI-responsive esophageal eosinophilia PPIRee PPK mutilans and deafness PPK nummularis PPK, Gamborg-Nielsen type PPK, Nagashima type PPK-CA, Stevanovic type PPK-CA, Wallis type PPK-deafness syndrome PPKP1 PPKP2 PPKP3 PPKP3 without elastoidosis PPM-X PPNAD PPNET PPoma PPP PPPK3 without elastoidosis PPPP PPRCA PPSPC PRAAS Prader-Labhart-Willi syndrome Prader-Willi habitus - osteopenia camptodactyly Prader-Willi syndrome Prader-Willi syndrome due to imprinting mutation Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi syndrome due to point mutation Prader-Willi syndrome due to translocation Prader-Willi-like syndrome Prader-Willi-like syndrome due to deletion 6q16 Prader-Willi-like syndrome due to point mutation Prata-Liberal-Goncalves syndrome ORPHA Disease name number 293462 Pre-Descemet corneal dystrophy 245 Preaxial acrodysostosis 2957 2921 295006 295006 295177 295175 93339 295146 295144 93336 295150 295148 93337 295154 295152 93338 295161 295159 1309 99860 99860 99860 99860 99861 99861 99861 99861 275555 69665 216445 276432 Preaxial deficiency - postaxial polydactyly - hypospadias Preaxial polydactyly - colobomata intellectual disability Preaxial polydactyly of foot Preaxial polydactyly of toes Preaxial polydactyly of toes, bilateral Preaxial polydactyly of toes, unilateral Preaxial polydactyly type 1 Preaxial polydactyly type 1, bilateral Preaxial polydactyly type 1, unilateral Preaxial polydactyly type 2 Preaxial polydactyly type 2, bilateral Preaxial polydactyly type 2, unilateral Preaxial polydactyly type 3 Preaxial polydactyly type 3, bilateral Preaxial polydactyly type 3, unilateral Preaxial polydactyly type 4 Preaxial polydactyly type 4, bilateral Preaxial polydactyly type 4, unilateral Precalicial canalicular ectasia Precursor B-cell acute lymphoblastic leukemia Precursor B-cell acute lymphoblastic leukemia/lymphoma Precursor B-cell acute lymphocytic leukemia Precursor B-cell acute lymphocytic leukemia/lymphoma Precursor T-cell acute lymphoblastic leukemia Precursor T-cell acute lymphoblastic leukemia/lymphoma Precursor T-cell acute lymphocytic leukemia Precursor T-cell acute lymphocytic leukemia/lymphoma Preeclampsia Pregnancy-related cholestasis Prelingual non-syndromic genetic deafness Premature aging appearancedevelopmental delay-cardiac arrhythmia syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 118 ORPHA number 363665 52183 95486 95486 2114 247638 247638 247638 90160 98914 79410 79410 2958 1451 930 75564 85138 85443 228272 140989 1572 2285 186 779 314684 46135 300865 267 169464 46135 140989 244 247522 →244 46135 90042 98976 91138 Disease name Premature aging syndrome, Penttinen type Premature chromosome condensation with microcephaly and intellectual disability Premature closure of the arterial duct Premature closure of the patent ductus arteriosus Premature degenerative osteoarthropathy of the hip Prenatal benign hypophosphatasia Prenatal benign phosphoethanolaminuria Prenatal benign Rathburn disease Pressure-induced localized lipoatrophy Presynaptic congenital myasthenic syndromes Pretibial DEB Pretibial dystrophic epidermolysis bullosa Prieto-Badia-Mulas syndrome Prieur-Griscelli syndrome Primary achalasia Primary acquired sideroblastic anemia Primary Addison's disease Primary amyloidosis Primary anetoderma Primary angiitis of the central nervous system Primary antibody deficiency Primary basilar impression Primary biliary cirrhosis Primary biliary cirrhosis and systemic scleroderma Primary bone lymphoma Primary brain lymphoma Primary C-ALCL Primary calpainopathy Primary CD59 deficiency Primary central nervous system lymphoma Primary central nervous system vasculitis Primary ciliary dyskinesia Primary ciliary dyskinesia - retinitis pigmentosa Primary ciliary dyskinesia, Kartagener type Primary CNS lymphoma Primary congenital erythrocytosis Primary congenital glaucoma Primary cryoglobulinemia ORPHA number Disease name Primary cutaneous aggressive 178528 epidermotropic CD8+ T-cell 300865 178522 178544 178528 178540 178533 178536 86885 98807 99657 98805 98806 98807 370103 306734 48686 90026 357220 412206 98957 90042 90042 3337 3337 633 633 633 633 100085 100085 314950 314950 2232 lymphoma Primary cutaneous anaplastic large cell lymphoma Primary cutaneous CD4+ small/medium-sized pleomorphic Tcell lymphoma Primary cutaneous diffuse large Bcell lymphoma, leg type Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma Primary cutaneous follicle center lymphoma Primary cutaneous gamma/deltapositive T-cell lymphoma Primary cutaneous marginal zone B-cell lymphoma Primary cutaneous unspecified peripheral T-cell lymphoma Primary dystonia with mixed phenotype Primary dystonia, DYT2 type Primary dystonia, DYT4 type Primary dystonia, DYT6 type Primary dystonia, DYT13 type Primary dystonia, DYT17 type Primary dystonia, DYT21 type Primary effusion lymphoma Primary erythermalgia Primary essential cutis verticis gyrata Primary failure of tooth eruption Primary familial amyloidosis of the cornea Primary familial and congenital polycythemia Primary familial polycythemia Primary Fanconi renotubular syndrome Primary Fanconi syndrome Primary GH insensitivity Primary GH resistance Primary growth hormone insensitivity Primary growth hormone resistance Primary hepatic carcinoid tumor Primary hepatic neuroendocrine carcinoma Primary HES Primary hypereosinophilic syndrome Primary hypergonadotropic hypogonadism - partial alopecia ORPHA number 682 416 93598 93599 93600 682 33208 1572 30924 90023 90023 73272 90362 279904 279904 140436 137926 35689 314709 137810 319667 319667 228272 168811 98838 98838 238642 252050 54370 306558 391408 824 357225 289356 Disease name Primary hyperkalemic periodic paralysis Primary hyperoxaluria Primary hyperoxaluria type 1 Primary hyperoxaluria type 2 Primary hyperoxaluria type 3 Primary hyperPP Primary hypersomnia Primary hypogammaglobulinemia Primary hypomagnesemia with secondary hypocalcemia Primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency syndrome with short stature Primary insulin-like growth factor deficiency Primary intestinal lymphangiectasia Primary intraocular lymphoma Primary intraocular non-Hodgkin's lymphoma Primary intraosseous vascular malformation Primary laryngeal lymphangioma Primary lateral sclerosis Primary localized amyloidosis Primary localized cutaneous nodular amyloidosis Primary lymphoid conjunctival tumor Primary lymphoma of the conjunctiva Primary macular atrophy Primary malignant peritoneal mesothelioma Primary mediastinal clear cell lymphoma of B-cell type Primary mediastinal large B-cell lymphoma Primary megaureter, adult-onset form Primary melanoma of the central nervous system Primary membranoproliferative glomerulonephritis Primary microcephaly-epilepsypermanent neonatal diabetes syndrome Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Primary myelofibrosis Primary non-essential cutis verticis gyrata Primary non-gestational choriocarcinoma of ovary → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 119 ORPHA number 289356 279897 279897 238606 99878 168829 168829 398980 189439 100021 314566 75567 275766 2420 358 412206 171 99856 98841 314701 268861 268861 99867 263310 263324 263317 99867 263310 263324 263317 98807 231580 140989 3033 Disease name Primary non-gestational ovarian choriocarcinoma Primary oculocerebral lymphoma Primary oculocerebral nonHodgkin's lymphoma Primary orthostatic tremor Primary parathyroids hyperplasia Primary peritoneal carcinoma Primary peritoneal serous carcinoma Primary peritoneal serous/papillary carcinoma Primary pigmented nodular adrenocortical disease Primary plasmacytoma of the bone Primary progressive apraxia of speech Primary progressive freezing gait Primary pulmonary arterial hypertension Primary pulmonary lymphoma Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria Primary retention of teeth Primary sclerosing cholangitis Primary syringomyelia Primary systemic ALCL Primary systemic amyloidosis Primary tethered chord syndrome Primary tethered spinal cord syndrome Primary thymic epithelial neoplasm Primary thymic epithelial neoplasm type A Primary thymic epithelial neoplasm type AB Primary thymic epithelial neoplasm type B Primary thymic epithelial tumor Primary thymic epithelial tumor type A Primary thymic epithelial tumor type AB Primary thymic epithelial tumor type B Primary torsion dystonia with predominant craniocervical or upper limb onset Primary unilateral adrenal hyperplasia Primary vasculitis of the central nervous system Primitive renal tubule syndrome ORPHA number 2636 →2637 3042 412066 2965 2965 326 141099 740 2959 99706 300382 2962 2963 79094 75373 56965 →97229 139447 79087 247198 1871 220393 220393 3235 216812 217396 1328 495 495 2836 Disease name Primordial microcephalic dwarfism, Crachami type Primordial short stature microdontia - opalescent and rootless teeth Primrose syndrome PRKAR1B-related neurodegenerative dementia with intermediate filaments PRL-secreting pituitary adenoma PRLoma Proaccelerin deficiency Proboscis lateralis Progeria Progeria - short stature - pigmented nevi Progeria-associated arthropathy Progeroid and marfanoid aspectlipodystrophy syndrome Progeroid syndrome, De Barsy type Progeroid syndrome, Petty type Progressive arterial occlusive disease - hypertension - heart defects - bone fragility brachysyndactyly Progressive bifocal chorioretinal atrophy Progressive bulbar palsy of childhood Progressive bulbar paralysis of childhood Progressive cavitating leukoencephalopathy Progressive cephalothoracic lipodystrophy Progressive cerebello-cerebral atrophy Progressive cone dystrophy Progressive cutaneous systemic scleroderma Progressive cutaneous systemic sclerosis Progressive deafness with stapes fixation Progressive deforming osteogenesis imperfecta Progressive demyelinating neuropathy with bilateral striatal necrosis Progressive diaphyseal dysplasia Progressive diffuse palmoplantar keratoderma Progressive diffuse PPK Progressive encephalopathy - optic atrophy ORPHA number 2836 99852 1947 352447 2744 172 79306 79304 79305 75327 1214 199282 73 217260 217260 424027 263516 308 501 263516 402082 280620 424027 352596 424027 263516 308 501 Disease name Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy Progressive encephalopathy with severe infantile anorexia Progressive epilepsy - intellectual disability, Finnish type Progressive external ophthalmoplegia - myopathy emaciation Progressive external ophthalmoplegia and scoliosis Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 3 Progressive foveal dystrophy Progressive hemifacial atrophy Progressive isolated segmental anhidrosis Progressive massive osteolysis Progressive multifocal leukoencephalitis Progressive multifocal leukoencephalopathy Progressive myoclonic epilepsy due to CERS1 deficiency Progressive myoclonic epilepsy due to KCTD7 deficiency Progressive myoclonic epilepsy type 1 Progressive myoclonic epilepsy type 2 Progressive myoclonic epilepsy type 3 Progressive myoclonic epilepsy type 5 Progressive myoclonic epilepsy type 6 Progressive myoclonic epilepsy type 8 Progressive myoclonic epilepsy with dystonia Progressive myoclonus epilepsy due to CERS1 deficiency Progressive myoclonus epilepsy due to KCTD7 deficiency Progressive myoclonus epilepsy type 1 Progressive myoclonus epilepsy type 2 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 120 ORPHA number 263516 402082 280620 352596 726 228012 228012 158022 100070 2062 2762 3322 1159 352718 228012 228012 683 240112 240103 240085 240112 240094 316 316 2965 2965 742 492 86872 221126 419 Disease name Progressive myoclonus epilepsy type 3 Progressive myoclonus epilepsy type 5 Progressive myoclonus epilepsy type 6 Progressive myoclonus epilepsy with dystonia Progressive neuronal degeneration of childhood with liver disease Progressive neurosensory deafness - hypertrophic cardiomyopathy Progressive neurosensory hearing loss - hypertrophic cardiomyopathy Progressive nodular histiocytosis Progressive non-fluent aphasia Progressive non-infectious anterior vertebral fusion Progressive osseous heteroplasia Progressive pancytopenia immunodeficiency - cerebellar hypoplasia Progressive pseudorheumatoid arthropathy of childhood Progressive retinal dystrophy due to retinol transport defect Progressive sensorineural deafness - hypertrophic cardiomyopathy Progressive sensorineural hearing loss - hypertrophic cardiomyopathy Progressive supranuclear palsy Progressive supranuclear palsy apraxia of speech Progressive supranuclear palsy corticobasal syndrome Progressive supranuclear palsy parkinsonism Progressive supranuclear palsy progressive non fluent aphasia Progressive supranuclear palsy pure akinesia with gait freezing Progressive symmetric erythrokeratodermia Progressive symmetric erythrokeratodermia, Gottron type Prolactin-secreting pituitary adenoma Prolactinoma Prolidase deficiency Proliferating trichilemmal cyst Proliferation of large granular lymphocytes Proliferative vasculopathy and hydranencephaly/hydrocephaly Proline oxidase deficiency ORPHA number 75374 300878 300878 2083 2966 35 35 35 324977 324977 213 2967 26349 744 2969 325 411696 251598 79473 2508 52022 261197 370079 261197 370079 2019 261197 401768 606 606 47159 93607 70 83330 83418 83419 83420 3250 370079 Disease name Prolonged electroretinal response suppression Prolymphocytic variant of hairy cell leukemia Prolymphocytic variant of HCL Prominent glabella - microcephaly hypogenitalism Properdin deficiency Propionic acidemia Propionic aciduria Propionyl-CoA carboxylase deficiency Proteasome disability syndrome Proteasome-associated autoinflammatory syndrome Protein defect of cystin transport Protein R deficiency Protein S acquired deficiency Proteus syndrome Proteus-like syndrome Prothrombin deficiency Proton-pomp inhibitor-responsive esophageal eosinophilia Protoplasmic astrocytoma Protoporphyrinogen oxidase deficiency Proud-Levine-Carpenter syndrome Proximal 11p deletion syndrome Proximal 16p11.2 microdeletion syndrome Proximal 16p11.2 microduplication syndrome Proximal del(16)(p11.2) Proximal dup(16)(p11.2) Proximal focal femoral deficiency Proximal monosomy 16p11.2 Proximal myopathy with extrapyramidal signs Proximal myotonic dystrophy Proximal myotonic myopathy Proximal renal tubular acidosis Proximal renal tubular acidosis with ocular abnormalities and intellectual disability Proximal spinal muscular atrophy Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 4 Proximal symphalangism Proximal trisomy 16p11.2 ORPHA number 3390 3222 3222 47159 2970 89843 64745 284417 171 228402 99000 314459 577 314459 263482 2971 2971 1229 2166 99000 52530 52530 →300 750 750 750 2971 526 221120 85174 2983 526 88660 756 757 88938 88939 88940 300525 300530 79443 94089 79444 94090 2976 Disease name Proximal tubulopathy - diabetes mellitus - cerebellar ataxia PRPP synthetase superactivity PRPS1 superactivity pRTA Prune belly syndrome Pruriginous dystrophic epidermolysis bullosa Pruritic urticarial papules and plaques of pregnancy PSAT deficiency PSC Pseudo-Angelman syndrome Pseudo-Best disease Pseudo-Demons-Meigs syndrome Pseudo-Hurler polydystrophy Pseudo-Meigs syndrome Pseudo-Morquio syndrome type 2 Pseudo-NALD Pseudo-neonatal adrenoleukodystrophy Pseudo-TORCH syndrome Pseudo-trisomy 13 syndrome Pseudo-vitelliform macular dystrophy Pseudo-von Willebrand disease Pseudo-von Willebrand disease type 2B Pseudo-Zellweger syndrome Pseudoachondroplasia Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia Pseudoadrenoleukodystrophy Pseudoaldosteronism Pseudoaminopterin syndrome Pseudodiastrophic dysplasia Pseudohermaphroditism intellectual disability Pseudohyperaldosteronism type 1 Pseudohyperaldosteronism type 2 Pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 2 Pseudohypoaldosteronism type 2A Pseudohypoaldosteronism type 2B Pseudohypoaldosteronism type 2C Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2E Pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 2 Pseudoleprechaunism syndrome, Patterson type → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 121 ORPHA Disease name number 26790 Pseudomyxoma peritonei 251962 251962 2980 129 2985 79445 3103 2518 238624 83316 180079 753 289157 758 228293 91135 228227 280794 280794 95496 683 240112 240103 240103 240085 240094 240085 240112 240094 263548 263553 99928 324636 88618 52530 329 247698 97290 269229 2988 2989 86789 Pseudopapillary ganglioglioneurocytoma Pseudopapillary neurocytoma with glial differentiation Pseudopapilledema blepharophimosis - hand anomalies Pseudopelade of Brocq Pseudoprogeria syndrome Pseudopseudohypoparathyroidism Pseudothalidomide syndrome Pseudotoxoplasmosis syndrome Pseudotumor cerebri Pseudotyphus of California Pseudounicornuate uterus Pseudovaginal perineoscrotal hypospadias Pseudovitamin D-deficient rickets Pseudoxanthoma elasticum Pseudoxanthoma elasticum-like papillary dermal elastocytosis Pseudoxanthoma elasticum-like syndrome Pseudoxanthoma-like late-onset focal dermal elastosis Pseudoxanthomatous DCM Pseudoxanthomatous diffuse cutaneous mastocytosis PSIS PSP PSP-AOS PSP-CBS PSP-corticobasal syndrome PSP-p PSP-PAGF PSP-parkinsonism PSP-PNFA PSP-pure akinesia with gait freezing PSS type A PSS type B PSST Psychogenic purpura Psychomotor retardation due to Sadenosylhomocysteine hydrolase deficiency PT-VWD PTA deficiency PTC syndrome PTC-RCC PTCD Pterygium colli - intellectual disability - digital anomalies Pterygium of the conjunctiva, familial form PTLAH ORPHA Disease name number 70568 PTLD 2999 Ptosis - strabismus - ectopic pupils 2998 238766 228396 2997 231580 60039 60039 60039 60039 60039 2038 984 60025 247257 178503 2038 99049 99050 99083 1208 1207 64741 99084 199241 210136 217080 99874 991 217557 2414 60026 411703 60026 Ptosis - strabismus - rectus abdominis diastasis Ptosis - syndactyly - learning difficulties Ptosis - upper ocular movement limitation - absence of lacrimal punctum Ptosis - vocal cord paralysis PUAH Pudendal algia Pudendal nerve entrapment syndrome Pudendal neuralgia Pudendal neuralgia by pudendal nerve entrapment Pudendalgia Pulmonar arteriovenous aneurysm Pulmonary agenesis Pulmonary alveolar microlithiasis Pulmonary anthrax Pulmonary arterial hypertension leukopenia - atrial septal defect Pulmonary arteriovenous fistula Pulmonary artery coming from patent ductus arteriosus Pulmonary artery coming from the aorta Pulmonary artery hypoplasia Pulmonary atresia - intact ventricular septum Pulmonary atresia with ventricular septal defect Pulmonary blastoma Pulmonary branch stenosis Pulmonary capillary hemangiomatosis Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia Pulmonary fungal infections in patients deemed at risk Pulmonary histiocytosis X Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome Pulmonary interstitial glycogenosis Pulmonary lymphangiomatosis Pulmonary nodular lymphoid hyperplasia Pulmonary non-tuberculous mycobacterial infection Pulmonary pseudolymphoma ORPHA number Disease name Pulmonary valve agenesis - Fallot's 101206 tetralogy - absence of ductus 99048 31837 85202 3444 98984 97353 79502 38 308013 79501 79502 38 308013 231625 231625 231625 441 441 319465 319465 69084 441 475 254854 2028 760 761 2442 293173 163927 48377 729 101206 arteriosus Pulmonary valve agenesis ventricular septal defect - persistent ductus arteriosus Pulmonary venoocclusive disease Pulmonic stenosis brachytelephalangism - calcification of cartilages Pulmonic stenosis with 'café-au-lait' spots Pulverulent cataract Punch-drunk syndrome Punctate palmoplantar hyperkeratosis type 2 Punctate palmoplantar hyperkeratosis type 3 Punctate palmoplantar hyperkeratosis type 3 without elastoidosis Punctate palmoplantar keratoderma type 1 Punctate palmoplantar keratoderma type 2 Punctate palmoplantar keratoderma type 3 Punctate palmoplantar keratoderma type 3 without elastoidosis Pure aldosterone-producing adrenocortical carcinoma Pure aldosterone-secreting adrenocortical carcinoma Pure APAC Pure autonomic failure Pure dysautonomia Pure familial acute myeloid leukemia Pure familial AML Pure hair and nail ectodermal dysplasia Pure idiopatic dysautonomia Pure Joubert syndrome Pure mitochondrial myopathy Puretic syndrome Purine nucleoside phosphorylase deficiency Purpura rheumatica Purtilo syndrome Pustular drug eruption Pustulosis palmaris et plantaris Pustulosis subcornealis PV PVA/ADA, Fallot type → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 122 ORPHA Disease name number 99048 PVA/PDA, non-Fallot type 398069 PWS due to point mutation 398073 PWS-like 398079 PWS-like due to point mutation 251607 PXA 758 228227 228293 91135 763 293633 293633 3003 763 64280 3005 48104 289478 69126 183713 764 2561 63440 79096 79096 79096 79096 3006 3006 32 293633 3008 353308 353314 353320 353320 353308 353314 79243 PXE PXE-like late-onset focal dermal elastosis PXE-like papillary dermal elastocytosis PXE-like syndrome Pycnodysostosis PYCR1 deficiency PYCR1-related De Barsy syndrome Pyknoachondrogenesis Pyknodysostosis Pyknolepsy Pyle disease Pyoderma gangrenosum Pyoderma gangrenosum - acne suppurative hidradenitis Pyogenic arthritis - pyoderma gangrenosum - acne Pyogenic bacterial infections due to MyD88 deficiency Pyomyositis Pyramidal molar - glaucoma - upper abnormal lip Pyrgocephaly Pyridoxal phosphate-dependent seizures Pyridoxal phosphate-responsive seizures Pyridoxamine 5'-oxidase deficiency Pyridoxamine 5'-phosphate oxidase deficiency Pyridoxine-dependent epilepsy Pyridoxine-responsive seizures Pyroglutamicaciduria Pyrroline-5-carboxylate reductase 1 deficiency Pyruvate carboxylase deficiency Pyruvate carboxylase deficiency type A Pyruvate carboxylase deficiency type B Pyruvate carboxylase deficiency type C Pyruvate carboxylase deficiency, benign type Pyruvate carboxylase deficiency, infantile form Pyruvate carboxylase deficiency, severe neonatal type Pyruvate decarboxylase deficiency ORPHA number 79244 255182 765 79243 255138 765 79243 255138 79244 2394 255182 79246 255182 766 781 3010 37553 602 781 9 424925 84142 869 220436 781 137888 346 261529 100057 100057 770 769 240760 93321 1121 93321 295071 Disease name Pyruvate dehydrogenase complex component E2 deficiency Pyruvate dehydrogenase complex component E3 deficiency Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex E1 component subunit alpha deficiency Pyruvate dehydrogenase complex E1 component subunit beta deficiency Pyruvate dehydrogenase deficiency Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3-binding protein deficiency Pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase protein X component deficiency Pyruvate kinase deficiency of erythrocytes Q fever Qazi-Markouizos syndrome QT long syndrome type 7 Quadriceps-sparing myopathy Quadrilateral fever Quadruple X Qualitative or quantitative defects of Lamina-associated polypeptide 1B Quantal squander syndrome Quaternary A syndrome Quebec platelet disorder Query fever Question mark ear syndrome Quinquaud's folliculitis decalvans r(Y) RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema Rabies Rabson-Mendenhall syndrome RAD50 deficiency Radial clubhand Radial deficiency - tibial hypoplasia Radial hemimelia Radial hemimelia, bilateral ORPHA Disease name number 295069 Radial hemimelia, unilateral 2252 93321 295071 295069 93321 2307 3026 90021 70475 99789 →2712 3015 3269 295219 295217 3269 71289 3270 →193 295219 295217 294979 295095 295093 420741 3016 100057 100019 100020 168960 1832 50811 268114 240905 99843 3018 Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema Radial longitidinal meromelia Radial longitidinal meromelia, bilateral Radial longitidinal meromelia, unilateral Radial ray agenesis Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia Radial ray hypoplasia - choanal atresia Radiation myelitis Radiation proctitis Radicular dentin dysplasia Radiculomegaly of canine teethcongenital cataract Radio-renal syndrome Radio-ulnar fusion Radio-ulnar fusion, bilateral Radio-ulnar fusion, unilateral Radio-ulnar synostosis Radio-ulnar synostosis amegakaryocytic thrombocytopenia Radio-ulnar synostosis - intellectual disability - hypotonia Radio-ulnar synostosis - retinal pigment abnormalities Radio-ulnar synostosis, bilateral Radio-ulnar synostosis, unilateral Radio-ulnar terminal transverse meromelia Radio-ulnar terminal transverse meromelia, bilateral Radio-ulnar terminal transverse meromelia, unilateral Radiosensitivity-immunodeficiencydysmorphic features-learning difficulties syndrome Radius absent - anogenital anomalies RAE RAEB-1 RAEB-2 RAEB-t Raine syndrome Rajab-Spranger syndrome RALD Raltegravir toxicity Rambam-Hasharon syndrome Rambaud-Gallian syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 123 ORPHA number 3018 3019 1051 412220 86861 3021 293987 293987 71517 141184 280569 178307 →1071 213528 137820 420755 101685 98619 101685 276142 213574 75564 268114 1929 1929 3023 31205 436 99852 2840 79127 98961 93111 177 284388 79408 89842 89841 79408 89842 Disease name Rambaud-Gallian-Touchard syndrome Ramon syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type II Randall disease RAPADILINO syndrome Rapid-onset childhood obesity hypothalamic dysfunction hypoventilation - autonomic dysregulation syndrome Rapid-onset childhood obesity hypothalamic dysfunctionhypoventilation-autonomic dysregulation - neural tumors Rapid-onset dystonia-parkinsonism Rapidly involuting congenital hemangioma Rapidly progressive glomerulonephritis RAPK Rapp-Hodgkin syndrome Rare adenocarcinoma of the breast Rare endometriosis Rare genetic odontal or periodontal disorder Rare intellectual disability without developmental anomaly Rare isolated myopia Rare non-syndromic intellectual deficiency Rare tumor of salivary glands Rare variants of adenocarcinoma of the corpus uteri RARS RAS-associated autoimmune leukoproliferative disease Rasmussen subacute encephalitis Rasmussen syndrome Rasmussen-Johnsen-Thomsen syndrome Rat-bite fever Rathburn disease RAVINE syndrome Ray-Peterson-Scott syndrome RB-ILD RBCD RCAD syndrome RCDP RCVS RDEB generalisata gravis RDEB generalisata mitis RDEB, centripetalis RDEB, Hallopeau-Siemens type RDEB, non-Hallopeau-Siemens type ORPHA Disease name number 89841 RDEB-Ce 89842 RDEB-generalized other 79409 RDEB-I 89842 79408 85445 29207 314962 166433 857 1188 2631 96167 96167 1115 139373 139380 79409 89842 89842 139373 139380 280384 94125 461 96167 96167 99990 424002 171220 100081 424002 51890 88619 64740 2672 90052 RDEB-O RDEB-sev gen Reactive amyloidosis Reactive arthritis Reactive hypereosinophilic syndrome Reading seizures REAR syndrome Reardon-Baraitser syndrome Reardon-Hall-Slaney syndrome Rec8 syndrome Rec(8) syndrome Recessive aplasia cutis congenita of limbs Recessive congenital methemoglobinemia type 1 Recessive congenital methemoglobinemia type 2 Recessive dystrophic epidermolysis bullosa inversa Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type Recessive dystrophic epidermolysis bullosa-generalized other Recessive hereditary methemoglobinemia type 1 Recessive hereditary methemoglobinemia type 2 Recessive intellectual disability motor dysfunction - multiple joint contractures Recessive mitochondrial ataxia syndrome Recessive X-linked ichthyosis Recombinant 8 syndrome Recombinant chromosome 8 syndrome Recrudescent typhus Rectal carcinoid carcinoma Rectal duplication Rectal endocrine tumor Rectal squamous cell carcinoma Rectus abdominis syndrome Recurrent acute necrotizing encephalopathy Recurrent acute pancreatitis Recurrent encephalophathy of childhood Recurrent hepatitis C virus induced liver disease in liver transplant recipients ORPHA number 293381 169142 251523 369852 369852 69665 169467 60032 199267 79433 231031 838 97239 523 3221 99995 98826 86839 168960 100019 100020 75564 398063 398063 398063 773 1525 1433 83450 300865 1040 2634 2634 98961 29207 99991 33577 Disease name Recurrent hereditary corneal erosions Recurrent infection due to specific granule deficiency Recurrent infections - inflammatory syndrome due to zinc metabolism disorder Recurrent infections-bone marrow fibrosis-nephromegaly syndrome Recurrent infections-myelofibrosisnephromegaly syndrome Recurrent intrahepatic cholestasis of pregnancy Recurrent Neisseria infections due to factor D deficiency Recurrent respiratory papillomatosis Recurring digital fibrous tumor of childhood Red oculocutaneous albinism Red palms disease RED-M Reducing body myopathy Reed syndrome Refetoff syndrome Reflex sympathetic dystrophy Refractory anemia Refractory anemia with excess blasts Refractory anemia with excess blasts in transformation Refractory anemia with excess blasts type 1 Refractory anemia with excess blasts type 2 Refractory anemia with ringed sideroblasts Refractory CD Refractory celiac disease Refractory sprue Refsum disease Reginato-Schiapachasse syndrome Regional choroidal atrophy and alopecia Regional odontodysplasia Regressive atypical histiocytosis Regressive metaphyseal dysplasia Reinhardt-Pfeiffer mesomelic dysplasia Reinhardt-Pfeiffer syndrome Reis-Bücklers corneal dystrophy Reiter syndrome Relapsing epidemic typhus Relapsing febrile nodular nonsuppurative panniculitis → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 124 ORPHA number 33577 91547 728 412 217330 217330 217330 411709 1848 93100 2838 319314 319314 1475 93111 93111 93111 93108 3404 1850 3404 3156 140969 93173 93172 654 1652 69076 34528 31043 93101 97362 97361 319319 71273 171871 18 47159 2785 3033 97368 Disease name Relapsing febrile nodular panniculitis Relapsing fever Relapsing polychondritis Remnant disease REN-associated familial juvenile hyperuricemic nephropathy REN-associated FJHN REN-associated kidney disease Renal agenesis Renal agenesis, bilateral Renal agenesis, unilateral Renal caliceal diverticuli - deafness Renal cell carcinoma after neuroblastoma Renal cell carcinoma associated with neuroblastoma Renal coloboma syndrome Renal cysts - maturity-onset diabetes of the young Renal cysts and diabetes syndrome Renal dysfunction - early-onset diabetes Renal dysplasia Renal dysplasia - limb defects Renal dysplasia - megalocystis sirenomelia Renal dysplasia - mesomelia radiohumeral fusion Renal dysplasia - retinal aplasia Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia skeletal dysplasia Renal dysplasia, bilateral Renal dysplasia, unilateral Renal embryonic tumor Renal Fanconi syndrome with nephrocalcinosis and renal stones Renal glucosuria Renal hypomagnesemia type 2 Renal hypomagnesemia type 3 Renal hypoplasia Renal hypoplasia, bilateral Renal hypoplasia, unilateral Renal medullary carcinoma Renal nutcracker syndrome Renal pseudohypoaldosteronism type 1 Renal tubular acidosis type 1 Renal tubular acidosis type 2 Renal tubular acidosis type 3 Renal tubular dysgenesis Renal tubular dysgenesis drugsrelated ORPHA number 97367 97369 112 254902 857 1092 294415 3032 774 774 93975 100057 100057 294415 3033 3242 364195 240935 73273 240947 424 99832 413684 247257 247257 79127 284102 284102 1662 33355 99002 100000 79145 178307 86900 Disease name Renal tubular dysgenesis due to twin-twin transfusion Renal tubular dysgenesis of genetic origin Renal tubular normotensive hypokalemic alkalosis with hypercalciuria Renal tubulopathy encephalopathy - liver failure Renal-ear-anal-radial syndrome Renal-genital-middle ear anomalies Renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia Dandy-Walker cysts Rendu-Osler disease Rendu-Osler-Weber disease Renier-Gabreels-Jasper syndrome Renin-angiotensin-aldosterone system-blocker-induced angioedema Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Renohepaticopancreatic dysplasia Renotubular dysgenesis Renpenning syndrome Resistance to bleomycine in the treatment of testicular cancer Resistance to clopidogrel Resistance to IGF-1 Resistance to tamoxifene Resistance to thyroid stimulating hormone Resistance to thyrotropin-releasing hormone syndrome Resistance to vitamin K antagonists Respiratory anthrax Respiratory anthrax disease Respiratory bronchiolitis interstitial lung disease Response to antiviral treatment in hepatitis C Response to PEG/IFN-ribavirin in HCV Restrictive dermopathy Reticular dysgenesis Reticular dystrophy of the retinal pigment epithelium Reticular perineurioma Reticular pigment anomaly of flexures Reticulate acropigmentation of Kitamura Reticulum cell sarcoma ORPHA number 284247 75326 75326 36383 71213 1574 1571 397758 397758 75326 3018 319640 353356 791 886 140976 3085 85332 85332 85332 52427 790 838 3087 2305 40366 2305 352718 90050 139455 Disease name Retinal arterial macroaneurysm and supravalvular pulmonic stenosis Retinal arterial tortuosity Retinal arteriolar tortuosity Retinal arteriolar tortuosity infantile hemiparesis - autosomal dominant leukoencephalopathy Retinal cavernous hemangioma Retinal degeneration nanophthalmos - glaucoma Retinal detachment - occipital encephalocele Retinal dystrophy with inner nuclear layer and ganglion cell anomalies Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Retinal hemorrhage with vascular tortuosity Retinal ischemic syndrome digestive tract small vessel hyalinosis - diffuse cerebral calcifications Retinal macular dystrophy type 2 Retinal vasoproliferative tumor Retinitis pigmentosa Retinitis pigmentosa - deafness Retinitis pigmentosa hypopituitarism - nephronophthisis - skeletal dysplasia Retinitis pigmentosa - intellectual disability - deafness hypogenitalism Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion Retinitis punctata albescens Retinoblastoma Retinocochleocerebral vasculopathy Retinohepatoendocrinologic syndrome Retinoic acid embryopathy Retinoid embryopathy Retinoids embryopathy Retinol dystrophy-iris colobomacomedogenic acne syndrome Retinopathy of prematurity Retinopathy, Burgess-Black type → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 125 ORPHA number 3088 838 53540 269200 90050 49041 778 3095 99852 294049 284388 254864 254864 3088 3088 3096 199267 779 244310 251975 71275 71275 69077 231108 3097 780 213802 213615 3099 761 177 309789 309796 309803 2831 93569 Disease name Retinopathy-anemia-central nervous system anomalies syndrome Retinopathy-encephalopathydeafness associated with microangiopathy Retinoschisis with early nyctalopia Retrocerebellar cyst Retrolental fibroplasia Retroperitoneal fibrosis Rett syndrome Rett syndrome variant Reunion island - anorexia - vomiting which is irrepressible - neurological signs Reunion Island's Larsen syndrome Reversible cerebral vasoconstriction syndrome Reversible infantile cytochrome c oxidase deficiency Reversible infantile respiratory chain deficiency Revesz syndrome Revesz-DeBuse syndrome Reye syndrome Reye tumor Reynolds syndrome RFT1-CDG RGNT Rh deficiency syndrome Rh-null syndrome Rhabdoid tumor Rhabdoid tumor predisposition syndrome Rhabdomyomatous dysplasia cardiopathy - genital anomalies Rhabdomyosarcoma Rhabdomyosarcoma of the cervix uteri Rhabdomyosarcoma of the corpus uteri Rheumatic fever Rheumatoid purpura Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 2 Rhizomelic chondrodysplasia punctata type 3 Rhizomelic dysplasia, PattersonLowry type Rhizomelic pseudopolyarthritis ORPHA number 1453 3098 59315 3022 140976 217055 254334 369867 97229 141184 2323 1399 240071 3101 2649 2511 1251 3102 1784 1794 28378 606 606 83312 420741 64744 91483 3163 782 319251 99081 99119 99119 99119 99110 99110 99110 293848 439 97244 97244 1764 217335 Disease name Rhizomelic shortness with clavicular defect Rhizomelic syndrome, Urbach type Rhombencephalosynapsis RHS RHYNS syndrome RI-CMT type A RI-CMT type B RI-CMT type C Riboflavin transporter deficiency RICH Richadson-Kirk syndrome Richards-Rundle syndrome Richardson syndrome Richieri Costa-da Silva syndrome Richieri Costa-Guion Almeida syndrome Richieri Costa-Guion AlmeidaRamos syndrome Richieri Costa-Guion AlmeidaRodini syndrome Richieri Costa-Pereira syndrome Richieri-Costa-Colletto syndrome Richieri-Costa-Gorlin syndrome Richner-Hanhart syndrome Ricker disease Ricker syndrome Rickettsialpox RIDDLE syndrome Riedel thyroiditis Rieger anomaly Rieger anomaly - partial lipodystrophy Rieger syndrome Rift valley fever Right aortic arch Right inferior caval vein connecting to left-sided atrium Right inferior vena cava connecting to left-sided atrium Right IVC connecting to left-sided atrium Right superior caval vein connecting to left-sided atrium Right superior vena cava connecting to left-sided atrium Right SVC connecting to left-sided atrium Right temporal lobar atrophy Right ventricular hypoplasia Rigid spine congenital muscular dystrophy Rigid spine syndrome Riley-Day syndrome RIN2 deficiency ORPHA Disease name number 217335 RIN2 syndrome 1437 Ring chromosome 1 96171 Ring chromosome 2 96172 1447 251043 1448 1449 1450 96173 1438 96175 1439 96176 1440 96177 96178 1441 1442 1443 1444 1445 1446 261529 91481 91481 169 97238 206575 7 1803 294049 93307 137634 71273 3103 3103 3104 97360 97360 3105 97360 →794 2780 529 83311 49382 49382 1258 49827 Ring chromosome 3 Ring chromosome 4 Ring chromosome 5 Ring chromosome 6 Ring chromosome 7 Ring chromosome 8 Ring chromosome 9 Ring chromosome 10 Ring chromosome 11 Ring chromosome 12 Ring chromosome 13 Ring chromosome 14 Ring chromosome 15 Ring chromosome 16 Ring chromosome 17 Ring chromosome 18 Ring chromosome 19 Ring chromosome 20 Ring chromosome 21 Ring chromosome 22 Ring chromosome Y Ring dermoid of cornea Ring dermoid syndrome Ringed hair disease Rippling muscle disease Rippling muscle disease with myasthenia gravis Ritscher-Schinzel syndrome Rivera-Perez-Salas syndrome RLS rMED RNF135-related overgrowth syndrome RNS Roberts syndrome Roberts-SC phocomelia syndrome Robin sequence - oligodactyly Robinow dwarfism Robinow syndrome Robinow-like syndrome Robinow-Silverman-Smith syndrome Robinow-Sorauf syndrome Robinow-Unger syndrome Roch-Leri mesosomatous lipomatosis Rocky Mountain spotted fever Rod monochromacy Rod monochromatism Rodini-Richieri Costa syndrome Rogers syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 126 ORPHA Disease name number 293987 ROHHAD 293987 ROHHADNET 353298 Roifman syndrome ORPHA Disease name number 1834 Russell-Weaver-Bull syndrome 2709 Rutherfurd syndrome 3121 Ruvalcaba syndrome ORPHA Disease name number 96167 San Luis Valley syndrome 796 Sandhoff disease 309169 Sandhoff disease, adult form 221139 Roifman-Chitayat syndrome 50816 Roifman-Melamed syndrome 293848 rvFTD 461 RXLI 309155 Sandhoff disease, infantile form 309162 Sandhoff disease, juvenile form 247775 Rokitansky sequence 3109 Rokitansky syndrome 1945 163727 163721 101016 101016 3110 1088 90050 158014 158014 1837 329 329 251975 90339 2909 221008 221016 3111 3115 1323 1323 280569 1507 818 293848 231108 2909 221008 221016 83616 783 353281 353277 353284 1768 →798 79433 Rolandic epilepsy Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp Rolandic epilepsy - speech dyspraxia Romano-Ward long QT syndrome Romano-Ward syndrome Rombo syndrome Rommen-Mueller-Sybert syndrome ROP Rosaï-Dorfman disease Rosaï-Dorfman-Destombes disease Rosenberg-Lohr syndrome Rosenthal factor deficiency Rosenthal syndrome Rosette-forming glioneuronal tumor of fourth ventricule Rosselli-Gulienetti syndrome Rothmund-Thomson syndrome Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome type 2 Rotor syndrome Roussy-Lévy syndrome Rozin-camptodactyly syndrome Rozin-Hertz-Goodman syndrome RPGN RRS RSH syndrome RTLA RTPS RTS RTS1 RTS2 Rubella panencephalitis Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rudd-Klimek syndrome Rudiger syndrome Rufous oculocutaneous albinism 16 16 3105 319239 3124 3124 286 98841 3027 397927 →83628 2351 3027 1773 85165 794 2872 300493 83484 2256 3128 3128 3128 1409 2613 140969 213557 213557 309334 370938 112 112 2230 369992 53721 397623 228123 S cone monochromacy S cone monochromatism Saal-Greenstein syndrome Sabia hemorrhagic fever Saccharopine dehydrogenase deficiency Saccharopinuria Sack-Barabas syndrome sACL Sacral agenesis syndrome Sacral agenesis-abnormal ossification of the vertebral bodiespersistent notochordal canal syndrome Sacral hemangiomas - multiple congenital abnormalities Sacral meningocele - conotruncal heart defects Sacral regression syndrome Sacrococcygeal dysgenesis association SADDAN Saethre-Chotzen syndrome Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis Sagliker syndrome Saint Louis encephalitis Saito-Kuba-Tsuruta syndrome Sakati syndrome Sakati-Nyhan syndrome Sakati-Nyhan-Tisdale syndrome Salamon syndrome Salcedo syndrome Saldino-Mainzer syndrome Salivary gland type cancer of the breast Salivary gland type carcinoma of the breast Salla disease Salt-and-pepper syndrome Salt-losing tubular disorder, Henle's loop type Salt-wasting tubulopathy, Henle's loop type Salti-Salem syndrome SAM syndrome SAMS 1-31 SAMS syndrome San Joaquin valley fever 71272 70595 2378 581 79269 79270 79271 79272 2323 588 79263 79263 2155 98868 247234 793 54368 797 3129 3129 54368 1878 140896 140896 140896 3130 330015 425120 3047 2013 3132 3133 3369 3047 79157 481 3103 3103 98755 98756 98757 276238 276244 98765 98766 98758 Sandifer syndrome SANDO Sandrow syndrome Sanfilippo disease Sanfilippo syndrome type A Sanfilippo syndrome type B Sanfilippo syndrome type C Sanfilippo syndrome type D Sanjad-Sakati syndrome Santavuori congenital muscular dystrophy Santavuori disease Santavuori-Haltia disease Santos-Mateus-Leal syndrome SAO SAOA SAPHO syndrome Sarcocystosis Sarcoidosis Sarcosine dehydrogenase complex deficiency Sarcosinemia Sarcosporidiosis Sarcotubular myopathy SARS SARS-associated coronavirus SARS-CoV Satoyoshi syndrome Saturnism SAVI Say-Barber-Biesecker-YoungSimpson syndrome Say-Barber-Hobbs syndrome Say-Barber-Miller syndrome Say-Field-Coldwell syndrome Say-Meyer syndrome SBBYSS SBCAD deficiency SBMA SC phocomelia SC pseudothalidomide syndrome SCA1 SCA2 SCA3 SCA3, Joseph type SCA3, Machado type SCA4 SCA5 SCA6 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 127 ORPHA number 94147 SCA7 98760 SCA8 98761 SCA10 98767 98762 98768 98763 98769 98770 98759 98771 98772 101110 98773 101107 101108 101111 101112 98764 101109 208513 211017 217012 276183 1955 276193 276198 363710 423296 423275 26792 26792 254881 1003 370052 2036 64753 94124 168624 2839 85146 85146 64753 1170 95433 95434 83472 284332 284324 88644 139485 284289 Disease name SCA11 SCA12 SCA13 SCA14 SCA15/16 SCA16 SCA17 SCA18 SCA19/22 SCA20 SCA21 SCA22 SCA23 SCA25 SCA26 SCA27 SCA28 SCA29 SCA30 SCA31 SCA32 SCA34 SCA35 SCA36 SCA37 SCA38 SCA40 SCAD deficiency SCADD SCAE Scalp defects - postaxial polydactyly SCALP syndrome Scalp-ear-nipple syndrome SCAN 2 SCAN1 Scaphocephaly - macrocephaly maxillary retrusion - intellectual disability Scapuloiliac dysostosis Scapuloperoneal amyotrophy Scapuloperoneal muscular atrophy SCAR1 SCAR2 SCAR3 SCAR4 SCAR5 SCAR6 SCAR7 SCAR8 SCAR9 SCAR10 ORPHA number 284271 SCAR11 284282 SCAR12 324262 SCAR13 Disease name 352403 SCAR14 404499 SCAR15 412057 SCAR16 3134 SCARF syndrome 90080 95434 85297 85292 284400 98967 370396 91365 98967 1383 71212 370039 93474 2353 59298 59298 1830 1830 2612 3137 79279 79280 79281 3138 798 63862 1247 799 98973 3143 2252 3144 37748 98967 98967 98967 3145 3041 93921 800 800 Scarring in glaucoma filtration surgical procedures SCASI SCAX3 SCAX4 SCCB SCCD SCCO SCD SCD Schaap-Taylor-Baraitser syndrome SCHAD deficiency Schauder syndrome Scheie syndrome Schilbach-Rott syndrome Schilder disease Schilder's disease Schimke immuno-osseous dysplasia Schimke syndrome Schimmelpenning syndrome Schindler disease Schindler disease type 1 Schindler disease type 2 Schindler disease type 3 Schinzel syndrome Schinzel-Giedion syndrome Schisis association Schistosomiasis Schizencephaly Schlichting dystrophy Schmidt syndrome Schmitt-Gillenwater-Kelly syndrome Schneckenbecken dysplasia Schnitzler syndrome Schnyder corneal dystrophy Schnyder crystalline corneal dystrophy Schnyder crystalline dystrophy sine crystals Schofer-Beetz-Bohl syndrome Scholte-Begeer-van Essen syndrome Schwannomatosis Schwartz-Jampel syndrome Schwartz-Jampel syndrome type 1 ORPHA number 800 50944 277 275 357237 331206 228003 228003 275 317425 397787 280142 280142 420573 33355 275 275 276 185 70573 352763 75840 384 167635 90400 75325 63999 238593 100001 3152 384 188 331176 832 1514 806 1514 1509 86813 83317 794 295193 295189 295191 295187 295187 Disease name Schwartz-Jampel-Aberfeld syndrome Schöpf-Schulz-Passarge syndrome SCID due to adenosine deaminase deficiency SCID due to artemis deficiency SCID due to CARD11 deficiency SCID due to complete RAG1/2 deficiency SCID due to CORO1A deficiency SCID due to coronin-1A deficiency SCID due to DCLRE1C deficiency SCID due to DNA-PKcs deficiency SCID due to IKK2 deficiency SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency SCID due to mutation in the CTPS1 gene SCID with leukopenia SCID, Athabascan type SCID, Athabaskan type SCIDX1 Scimitar syndrome SCLC Scleredema Scleroatonic muscular dystrophy Scleroatrophic syndrome Scleromyxedema Scleromyxedema without monoclonal gammopathy Sclerosing dysplasia of bone ichthyosis - premature ovarian failure Sclerosing mediastinitis Sclerosing mesenteritis Sclerosing perineurioma Sclerosteosis Sclerotylosis SCLS SCN4 SCOT deficiency Scott craniodigital syndrome Scott syndrome Scott-Bryant-Graham syndrome Scott-Taor syndrome SCRA Scrub typhus SCS SD1, Castilla type SD1, Lueken type SD1, Montagu type SD1, Weidenreich type SD1a → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 128 ORPHA number 295189 SD1b 295191 SD1c 295193 SD1d Disease name 295197 SD2, Debeer type 295199 SD2, Malik type ORPHA Disease name number 420259 Secondary PAP 420259 99930 295195 SD2, Vordingborg type 295195 SD2a 95427 295197 SD2b 295199 SD2c 364055 SD3 93406 SD5 84064 SD/THE 263463 SDCD, CHST3 type 168577 sdCHC SDHx-related paraganglioma29072 pheochromocytoma 300869 SDRPL 811 SDS 373 SDYS 158029 Sea-blue histiocytosis 1778 Seaver-Cassidy syndrome Sebaceous nevus-central nervous system malformations-aplasia cutis 370052 congenital-limbal dermoidpigmented nevus syndrome Sebaceous nevus-CNS malformations-aplasia cutis 370052 congenital-limbal dermoidpigmented nevus syndrome →182050 Sebastian syndrome 841 Sebocystomatosis Seborrhea-like dermatitis with 168606 psoriasiform elements 79480 Seborrheic pemphigus 98873 SEC23B-CDG 808 Seckel syndrome 141022 Second branchial cleft anomaly 141022 Second branchial cleft cyst 141022 Second branchial cleft fistula 139420 Secondary acute transverse myelitis 85445 Secondary amyloidosis Secondary central precocious 169618 puberty 91365 Secondary ciliary dyskinesia 314962 Secondary HES Secondary hypereosinophilic 314962 syndrome Secondary hypertrophic 2615 osteoperiostosis with pernio Secondary intestinal 90363 lymphangiectasia Secondary non-traumatic avascular 399180 necrosis 399180 Secondary non-traumatic AVN 3452 Secondary non-tropical sprue 93404 99857 163654 94068 567 647 2528 251618 2759 67039 137608 314662 455 35069 79156 199343 357194 357191 35858 331235 331235 165994 99798 281122 90397 65748 1850 3232 100069 100069 100069 93356 93351 171866 Secondary pulmonary alveolar proteinosis Secondary pulmonary hemosiderosis Secondary short bowel syndrome Secondary syringomyelia SECORD SED-BDS SEDC Sedlackova syndrome Seemanova syndrome type 2 Seemanova-Lesny syndrome SEGA Seghers syndrome Segmental odontomaxillary dysplasia Segmental outgrowth - lipomatosis - arteriovenous malformation epidermal nevus Segmental progressive overgrowth syndrome with fibroadipose hyperplasia SEI Seitelberger disease Seizures - intellectual disability due to hydroxylysinuria Seizures - sensorineural deafness ataxia - intellectual disability electrolyte imbalance Selection of therapeutic option in colorectal cancer Selection of therapeutic option in non-small cell lung carcinoma Selective cobalamin malabsorption with proteinuria Selective IgM deficiency Selective immunoglobulin M deficiency Selective pituitary resistance to thyroid hormone Selective tooth agenesis Self-healing collodion baby Self-healing papular mucinosis Self-healing squamous epithelioma type 1 Selig-Benacerraf-Greene syndrome Sellars-Beighton syndrome Semantic dementia Semantic primary progressive aphasia Semantic variant PPA SEMD type 2 SEMD type Irapa SEMD, aggrecan type ORPHA Disease name number 93351 SEMD, Irapa type 156728 SEMD, MATN3-related 156728 SEMD, matrilin-3 type 93356 93352 93359 93360 93359 93360 420402 220386 842 842 329284 79480 1369 2183 330001 1292 84081 3156 1515 217622 857 66633 97229 217622 70595 477 90118 70594 90051 180154 137839 3157 3157 280195 280195 139466 43116 43116 43116 43116 43116 SEMD, Missouri type SEMD, Shohat type SEMD-JL SEMD-MD SEMDJL1 SEMDJL2 Semicircular canal dehiscence syndrome Semilobar holoprosencephaly Seminoma of testis Seminomatous germ cell tumor of testis SENDA Senear-Usher syndrome Sengers syndrome Sengers-Hamel-Otten syndrome Senile systemic amyloidosis Senior syndrome Senior-Boichis syndrome Senior-Loken syndrome Sensenbrenner syndrome Sensorineural deafness with dilated cardiomyopathy Sensorineural deafness with imperforate anus and hypoplastic thumbs Sensorineural hearing loss - early graying - essential tremor Sensorineural hearing loss pontobulbar palsy Sensorineural hearing loss with dilated cardiomyopathy Sensory ataxic neuropathy dysarthria - ophthalmoparesis Senter syndrome SEOAN due to MFN2 deficiency Sepiapterin reductase deficiency Sepsis in premature infants Septate vagina Septic phlebitis of the internal jugular vein Septo-optic dysplasia Septo-optic dysplasia spectrum Septopreoptic holoprosencephaly Septopreoptic HPE SERKAL syndrome Serotonergic syndrome Serotonin storm Serotonin syndrome Serotonin toxicity Serotonin toxidrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 129 ORPHA number 424073 206470 168829 →955 35686 157798 2901 75508 199343 1807 85165 140896 314911 277 275 357237 331206 228003 228003 275 317425 397787 280142 280142 33355 275 Disease name Serous cystadenocarcinoma of pancreas Serous or mucinous cystadenoma of childhood Serous surface papillary carcinoma Serpentine fibula - polycystic kidneys Serpiginous choroiditis Serrated polyposis Serum neuritis Servelle-Martorell syndrome SeSAME syndrome Setleis syndrome Severe achondroplasia developmental delay - acanthosis nigricans Severe acute respiratory syndrome Severe Canavan disease Severe combined immunodeficiency due to adenosine deaminase deficiency Severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency due to CARD11 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to CORO1A deficiency Severe combined immunodeficiency due to coronin1A deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to LCK deficiency Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency Severe combined immunodeficiency with leukopenia Severe combined immunodeficiency, Athabascan type ORPHA number Disease name Severe combined immunodeficiency, Athabaskan type Severe congenital encephalopathy 209370 due to MECP2 mutation Severe congenital hypochromic 300298 anemia with ringed sideroblasts Severe congenital hypochromic 300298 sideroblastic anemia Severe congenital nemaline 171430 myopathy Severe congenital neutropenia 331176 pulmonary hypertension superficial venous angiectasis Severe congenital neutropenia type 99749 3 Severe congenital neutropenia type 331176 4 420271 Severe congenital PAP Severe congenital pulmonary 420271 alveolar proteinosis Severe dermatitis-multiple 369992 allergies-metabolic wasting syndrome Severe dilated cardiomyopathy due →300751 to lamin A/C mutation Severe dilated cardiomyopathy 83618 with or without myopathy Severe dystrophinopathy, 98896 Duchenne type Severe early-childhood-onset 364055 retinal dystrophy Severe early-onset axonal 228374 neuropathy due to light neurofilament subunit deficiency Severe early-onset axonal 90118 neuropathy due to MFN2 deficiency Severe early-onset axonal 228374 neuropathy due to NEFL deficiency Severe early-onset obesity-insulin 329249 resistance syndrome due to SH2B1 deficiency 169793 Severe factor IX deficiency 169802 Severe factor VIII deficiency Severe feeding difficulties - failure 352577 to thrive - microcephaly due to ASXL3 deficiency 79408 Severe generalized RDEB Severe generalized recessive 79408 dystrophic epidermolysis bullosa Severe Hallermann-Streiff-François 2109 syndrome 169802 Severe hemophilia A 169793 Severe hemophilia B Severe infantile axonal neuropathy 98920 with respiratory failure type 1 275 ORPHA number 404521 94066 280763 420561 363686 397933 404473 391307 324307 2879 369939 33069 33069 397593 209370 363400 363400 216812 411543 280210 411543 411543 163703 169095 3078 Disease name Severe infantile axonal neuropathy with respiratory failure type 2 Severe intellectual disability epilepsy - anal anomalies - distal phalangeal hypoplasia Severe intellectual disability and progressive spastic paraplegia Severe intellectual disabilityaplasia/hypoplasia of thumb and hallux syndrome Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Severe intellectual disabilityprogressive postnatal microcephalymidline stereotypic hand movements syndrome Severe intellectual disabilityprogressive spastic diplegia syndrome Severe intellectual disability-short stature-behavioral troubles-facial dysmorphism syndrome Severe lateral tibial bowing with short stature Severe limb deficit Severe motor and intellectual disabilities-sensorineural deafnessdystonia syndrome Severe myoclonic epilepsy of infancy Severe myoclonus epilepsy of infancy Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency Severe neonatal-onset encephalopathy with microcephaly Severe neurodegenerative syndrome due to BSCL2 deficiency Severe neurodegenerative syndrome with lipodystrophy Severe osteogenesis imperfecta Severe phosphoribosylpyrophosphate synthetase superactivity Severe PMD Severe PRPP synthetase superactivity Severe PRPS1 superactivity Severe refractory status epilepticus owing to presumed encephalitis Severe T-cell immunodeficiency congenital alopecia - nail dystrophy Severe X-linked intellectual disability, Gustavson type → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 130 ORPHA number 238329 363489 139466 373 373 79022 35710 69076 2462 798 2407 897 29822 1506 809 281122 91355 1147 3329 2440 3329 90038 810 158014 1008 99063 251515 26792 66518 294996 295130 295128 935 →56304 93270 93269 93271 93268 93268 93269 93270 Disease name Severe X-linked mitochondrial encephalomyopathy Sex cord-stromal tumor of testis Sex reversion - kidneys, adrenal and lung dysgenesis SGBS SGBS1 SGBS2 SGLT1 deficiency SGLT2 deficiency SGS SGS Shabbir syndrome Shah-Waardenburg syndrome Shapiro syndrome Sharma-Kapoor-Ramji syndrome Sharp syndrome SHCB Sheehan syndrome Sheldon-Hall syndrome SHFLD syndrome SHFM SHFM associated with aplasia of long bones Shiga-like toxin-associated HUS Shigellosis SHML Shokeir syndrome Shone complex Short Achilles tendon Short chain acyl-CoA dehydrogenase deficiency Short fifth metacarpals - insulin resistance Short fingers Short fingers, bilateral Short fingers, unilateral Short limb skeletal dysplasia with SCID Short limb-dwarf lethal, McAlisterCrane type Short rib-polydactyly syndrome type 1 Short rib-polydactyly syndrome type 2 Short rib-polydactyly syndrome type 3 Short rib-polydactyly syndrome type 4 Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type ORPHA number 93271 156723 2994 2866 2332 2649 1937 3102 3102 85442 2868 2865 2863 314811 629 633 314811 632 314802 314802 140941 220465 2867 397623 Disease name Short rib-polydactyly syndrome, Verma-Naumoff type Short ribs - craniosynostosis polysyndactyly Short stature - craniofacial anomalies - genital hypoplasia Short stature - deafness neutrophil dysfunction dysmorphism Short stature - facial and skeletal anomalies - intellectual disability macrodontia Short stature - intellectual disability - eye anomalies - cleft lip/palate Short stature - locking fingers Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot Short stature - pituitary and cerebellar defects - small sella turcica Short stature - valvular heart disease - characteristic facies Short stature - webbed neck - heart disease Short stature - wormian bones dextrocardia Short stature due to GHSR deficiency Short stature due to growth hormone qualitative anomaly Short stature due to growth hormone resistance Short stature due to growth hormone secretagogue receptor deficiency Short stature due to isolated growth hormone deficiency with Xlinked hypogammaglobulinemia Short stature due to partial GHR deficiency Short stature due to partial growth hormone receptor deficiency Short stature due to primary acidlabile subunit deficiency Short stature due to STAT5b deficiency Short stature, Brussels type Short stature-auditory canal atresia-mandibular hypoplasiaskeletal anomalies syndrome ORPHA number Disease name Short stature-delayed bone age due 171706 to thyroid hormone metabolism 1088 420794 423454 314394 391677 3163 2832 251515 294998 295134 295132 357175 57145 935 79157 2580 1940 314795 567 2462 3165 811 811 811 812 87876 3166 3166 98920 →33364 611 251359 251365 deficiency Short stature-heart defectcraniofacial anomalies syndrome Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome Short stature-nail dysplasiamarginal palmoplantar keratoderma-oral hyperpigmentation syndrome Short stature-onychodysplasiafacial dysmorphism-hypotrichosis syndrome Short stature-optic atrophy-PelgerHuët anomaly syndrome SHORT syndrome Short tarsus - absence of lower eyelashes Short tendo calcaneus Short toes Short toes, bilateral Short toes, unilateral Short ulna - dysmorphism hypotonia - intellectual disability Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing Short-limb skeletal dysplasia with severe combined immunodeficiency Short/branched-chain acyl-coA dehydrogenase deficiency Shoulder and girdle defects familial intellectual disability Shoulder and thorax deformity congenital heart disease SHOX-related short stature Shprintzen syndrome Shprintzen-Goldberg syndrome Shulman syndrome Shwachman syndrome Shwachman-Bodian-Diamond syndrome Shwachman-Diamond syndrome Sialidosis type 1 Sialidosis type 2 Sialuria Sialuria, French type SIANRF SIBIDS syndrome sIBM Sickle cell - beta-thalassemia disease Sickle cell - hemoglobin C disease → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 131 ORPHA Disease name number 251370 Sickle cell - hemoglobin D disease 251375 Sickle cell - hemoglobin E disease 232 Sickle cell anemia 232 Sickle cell disease 210272 Sickness of disembarkment 838 SICRET syndrome 168593 SIDDT 54028 Sideropenic dysphagia 2267 3167 98861 369861 314786 71276 3168 60014 100998 813 813 231137 231137 231144 397590 231140 231137 96182 231147 231137 231137 1968 91139 373 373 373 79022 97337 50809 2286 99097 Sidransky-Feinstein-Goodman syndrome Siegler-Brewer-Carey syndrome Siewert syndrome SIFD syndrome Silent pituitary adenoma Silent sinus syndrome Sillence syndrome Silver staining Silver Syndrome Silver-Russell dwarfism Silver-Russell syndrome Silver-Russell syndrome due to 7p11.2-p13 microduplication Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to 11p15 microduplication Silver-Russell syndrome due to a point mutation Silver-Russell syndrome due to an imprinting defect of 11p15 Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell syndrome due to trisomy 7p11.2-p13 Silver-Russell syndrome due to trisomy 7p11.2p13 Simosa-Penchaszadeh-Bustos syndrome Simple cryoglobulinemia Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel syndrome type 2 Sinding-Larsen-Johansson disease Singh-Williams-McAlister syndrome Single upper central incisor Single ventricular septal defect ORPHA Disease name number 85191 Singleton-Merten dysplasia 85191 Singleton-Merten syndrome 1260 Sino-auricular heart block 324321 158014 890 247698 3169 2882 157769 157769 101063 101063 800 800 95455 816 2565 1858 1436 166277 1426 293165 293165 178475 178475 52503 238459 356961 370943 99843 3144 93552 3385 88633 818 70472 3156 584 70 83330 83418 83419 83420 Sinoatrial node dysfunction and deafness Sinus histiocytosis with massive lymphadenopathy Sinusoidal obstruction syndrome Sipple syndrome Sirenomelia Sitosterolemia Situs ambiguous Situs ambiguus Situs inversus Situs inversus totalis SJS SJS1 SJS-TEN Sjögren-Larsson syndrome Skeletal dysplasia - brachydactyly Skeletal dysplasia - epilepsy - short stature Skeletal dysplasia - intellectual disability Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality Skeletal dysplasia, Greenberg type Skin fragility-woolly hairpalmoplantar hyperkeratosis syndrome Skin fragility-woolly hairpalmoplantar keratoderma syndrome Skin infectious botulism Skin toxin-mediated botulism SLC6A8 deficiency SLC35A1-CDG SLC35A2-CDG SLC35A3-CDG SLC35C1-CDG SLC35D1-CDG SLE, pediatric onset Sleeping sickness SLK SLOS SLSJ-COX deficiency SLSN Sly disease SMA SMA1 SMA2 SMA3 SMA4 ORPHA Disease name number 83419 SMA type 3 83330 SMA-I 83418 SMA-II 83419 83420 363447 209341 363454 284400 284400 284400 370396 284400 70573 370396 838 1201 67038 543 1509 415675 98920 404521 1145 98959 85167 33069 93974 818 819 178355 2286 158775 86854 820 48377 91496 3063 3157 67039 306577 99903 99772 314394 100002 2234 137608 97230 424065 SMA-III SMA-IV SMALED SMALED1 SMALED2 Small cell bladder cancer Small cell bladder carcinoma Small cell carcinoma of the bladder Small cell carcinoma of the ovary Small cell carcinoma of the urinary bladder Small cell lung cancer Small cell ovarian carcinoma Small infarctions of cochlear, retinal and encephalic tissue Small intestinal atresia Small lymphocytic lymphoma Small non-cleaved cell lymphoma Small patella syndrome Small pox SMARD1 SMARD2 SMAX2 SMCD SMD-CRD SMEI Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Smith-McCort dysplasia SMMCI Smouldering systemic mastocytosis SMZL Sneddon syndrome Sneddon-Wilkinson disease Snowflake vitreoretinal degeneration Snyder-Robinson syndrome SOD SOD Sodium channelopathy-related small fiber neuropathy Sodoku Soft cleft palate SOFT syndrome Soft tissu perineurioma Sohval-Soffer syndrome SOLAMEN syndrome Solar urticaria Solid pseudopapillary carcinoma of pancreas → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 132 ORPHA Disease name number 83468 Solitary bone cyst 2126 Solitary fibrous tumor 79455 Solitary mastocytoma 2286 100035 86855 209964 2612 314769 97283 2564 1064 1529 1355 391677 1471 59181 821 98868 352403 352403 79132 279882 2572 2572 1182 1680 99015 100990 2815 101003 99015 2816 2819 2818 2822 2820 2821 329475 2826 Solitary median maxillary central incisor syndrome Solitary necrotic tumor of the liver Solitary plasmacytoma Solitary rectal ulcer syndrome Solomon syndrome Somatomammotropinoma Somatostatinoma Sommer-Hines syndrome Sommer-Rathbun-Battles syndrome Sommer-Young-Wee-Frye syndrome Sonoda syndrome SOPH syndrome Sorsby syndrome Sorsby's fundus dystrophy Sotos syndrome Southeast Asian ovalocytosis SPARCA SPARCA1 Sparse hair - short stature - skin anomalies Spasmus nutans Spastic ataxia - corneal dystrophy Spastic ataxia - ocular anomalies Spastic ataxia with congenital miosis Spastic diplegia, infantile type Spastic gait type 2 Spastic paraparesis - amyopathy cataracts - gastroesophageal reflux Spastic paraparesis - deafness Spastic paraparesis - vitiligo premature graying - characteristic facies Spastic paraparesis type 2 Spastic paraplegia - epilepsy intellectual disability Spastic paraplegia - facialcutaneous lesions Spastic paraplegia - glaucoma intellectual disability Spastic paraplegia - intellectual disability - thin corpus callosum Spastic paraplegia - nephritis deafness Spastic paraplegia - neuropathy poikiloderma Spastic paraplegia - Paget disease of bone Spastic paraplegia - precocious puberty ORPHA number 100996 139480 139480 99015 100998 320406 3011 210141 3011 3175 401866 251282 314603 254343 313772 158 295195 295197 295199 295197 295199 295195 352403 352403 209908 209908 3333 1855 50816 2816 99865 306617 99015 100985 100986 100988 99013 100989 100990 100991 2822 100993 Disease name Spastic paraplegia - retinal degeneration Spastic paraplegia due to neuropathy target esterase mutation Spastic paraplegia due to NTE mutation Spastic paraplegia type 2 Spastic paraplegia-amyotrophy of hands and feet Spastic paraplegia-optic atrophyneuropathy syndrome Spastic quadriplegia - retinitis pigmentosa - intellectual disability Spastic quadriplegic cerebral palsy Spastic tetraplegia - retinitis pigmentosa - intellectual disability Spasticity - intellectual disability X-linked epilepsy Spasticity-ataxia-gait anomalies syndrome SPAX1 SPAX3 SPAX4 SPAX5 SPCD SPD1 SPD2 SPD3 SPD, Debeer type SPD, Malik type SPD, Vordingborg type Spectrin-associated autosomal recessive cerebellar ataxia Spectrin-associated autosomal recessive cerebellar ataxia type 1 Speech and language disorder with orofacial dyspraxia Speech-language disorder type 1 Spellacy-Gibbs-Watts syndrome SPENCD SPENCDI SPERM Spermatocytic seminoma SPG1 SPG2 SPG4 SPG5A SPG6 SPG7 SPG8 SPG9 SPG10 SPG11 SPG12 ORPHA number 100994 SPG13 100995 SPG14 100996 SPG15 Disease name 100997 SPG16 100998 SPG17 209951 SPG18 100999 SPG19 101000 SPG20 101001 SPG21 101003 SPG23 101004 SPG24 101005 SPG25 101006 SPG26 101007 SPG27 101008 SPG28 101009 SPG29 101010 SPG30 101011 SPG31 171622 SPG32 171607 SPG34 171629 SPG35 320365 SPG36 171612 SPG37 171617 SPG38 139480 SPG39 320355 SPG41 171863 SPG42 320370 SPG43 320401 SPG44 320396 SPG45 320391 SPG46 306511 SPG48 320385 SPG49 319199 SPG53 320380 SPG54 320375 SPG55 320411 SPG56 397946 SPG58 401795 SPG59 401800 SPG60 401780 SPG61 401785 SPG62 401805 SPG63 401810 SPG64 320396 SPG65 401815 SPG66 401820 SPG67 401825 SPG68 401830 SPG69 401835 SPG70 401840 SPG71 401849 SPG72 268129 Spheroid body myopathy → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 133 ORPHA Disease name number 3449 Spherophakia - brachymorphia 306553 Spherulocytosis 79264 Spielmeyer-Vogt disease 314432 3176 268369 481 53721 1217 90058 73245 1145 98920 404521 83420 210584 210584 481 2074 1185 1955 412057 98755 94124 98756 98757 98765 98766 98758 94147 98760 98761 98767 98762 98768 98763 98769 →98769 98759 98771 98772 101110 98773 Spigelian hernia-cryptorchidism syndrome Spina bifida - hypospadias Spina bifida aperta Spinal and bulbar muscular atrophy Spinal arteriovenous metameric syndrome Spinal atrophy - ophthalmoplegia pyramidal syndrome Spinal cord injury Spinal muscular atrophy - DandyWalker malformation - cataracts Spinal muscular atrophy with arthrogryposis Spinal muscular atrophy with respiratory distress type 1 Spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy, adult form Spindle cell hemangioendothelioma Spindle cell hemangioma Spinobulbar muscular atrophy Spinocerebellar ataxia amyotrophy - deafness Spinocerebellar ataxia dysmorphism Spinocerebellar ataxia and erythrokeratodermia Spinocerebellar ataxia autosomal recessive type 16 Spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 with axonal neuropathy Spinocerebellar ataxia type 2 Spinocerebellar ataxia type 3 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 7 Spinocerebellar ataxia type 8 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia type 18 Spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 20 Spinocerebellar ataxia type 21 ORPHA Disease name number →98772 Spinocerebellar ataxia type 22 101108 Spinocerebellar ataxia type 23 101111 Spinocerebellar ataxia type 25 101112 Spinocerebellar ataxia type 26 98764 Spinocerebellar ataxia type 27 101109 Spinocerebellar ataxia type 28 208513 Spinocerebellar ataxia type 29 211017 Spinocerebellar ataxia type 30 217012 Spinocerebellar ataxia type 31 276183 Spinocerebellar ataxia type 32 1955 Spinocerebellar ataxia type 34 276193 Spinocerebellar ataxia type 35 276198 Spinocerebellar ataxia type 36 363710 Spinocerebellar ataxia type 37 423296 Spinocerebellar ataxia type 38 423275 Spinocerebellar ataxia type 40 363710 64753 254881 3177 99903 757 300869 300869 86854 2063 47612 294994 2439 295126 295124 294992 71271 2437 2440 2437 295122 295120 2440 3329 958 2329 Spinocerebellar ataxia with altered vertical eye movements Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia with epilepsy Spinocerebellar degeneration corneal dystrophy Spirillary rat-bite fever Spitzer-Weinstein syndrome Splenic diffuse red pulp B-cell lymphoma Splenic diffuse red pulp lymphoma Splenic marginal zone lymphoma Splenogonadal fusion - limb defects - micrognathia Splenomegaly-neutropeniarheumatoid arthritis syndrome Split foot Split foot deformity mandibulofacial dysostosis Split foot, bilateral Split foot, unilateral Split hand Split hand - split foot - deafness Split hand - urinary anomalies spina bifida Split hand foot malformation Split hand with obstructive uropathy, spina bifida and diaphragmatic defects Split hand, bilateral Split hand, unilateral Split hand-split foot malformation Split hand/foot malformation with long bone deficiency Split hand/split foot - mandibular hypoplasia Split hand/split foot - nystagmus ORPHA Disease name number 1756 Split notochord syndrome 3329 320406 93357 1190 228387 85194 3180 3275 94095 329252 1855 50816 1855 168451 168443 93358 93346 93356 93360 93359 93359 93360 93360 93360 93360 171866 93347 168448 168454 99642 Split-hand/foot malformation associated with aplasia of long bones SPOAN SPONASTRIME dysplasia Spondylo-humero-femoral dysplasia Spondylo-megaepiphysealmetaphyseal dysplasia Spondylo-ocular syndrome Spondylocamptodactyly syndrome Spondylocarpotarsal synostosis Spondylocostal dysostosis - anal and genitourinary malformations Spondylocostal dysostosis hypospadias - intellectual disability Spondyloenchondrodysplasia Spondyloenchondrodysplasia with immune dysregulation Spondyloenchondromatosis Spondyloepimetaphyseal dysplasia - abnormal dentition Spondyloepimetaphyseal dysplasia - hypotrichosis Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification Spondyloepimetaphyseal dysplasia congenita, Strudwick type Spondyloepimetaphyseal dysplasia type 2 Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Spondyloepimetaphyseal dysplasia with joint laxity Spondyloepimetaphyseal dysplasia with joint laxity type 1 Spondyloepimetaphyseal dysplasia with joint laxity type 2 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Spondyloepimetaphyseal dysplasia with multiple dislocations Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, anauxetic type Spondyloepimetaphyseal dysplasia, Bieganski type Spondyloepimetaphyseal dysplasia, Geneviève type Spondyloepimetaphyseal dysplasia, Handigodu type → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 134 ORPHA number Disease name Spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, 370015 Isidor type Spondyloepimetaphyseal dysplasia, 156728 matrilin-3 type Spondyloepimetaphyseal dysplasia, 93347 Menger type Spondyloepimetaphyseal dysplasia, 93356 Missouri type Spondyloepimetaphyseal dysplasia, 93282 Pakistani type Spondyloepimetaphyseal dysplasia, 93352 Shohat type Spondyloepimetaphyseal dysplasia, 93357 Sponastrime type Spondyloepiphyseal dysplasia 163654 brachydactyly - speech disorder Spondyloepiphyseal dysplasia 163649 craniosynostosis - cleft palate cataract - intellectual disability Spondyloepiphyseal dysplasia 163668 myopia - sensorineural deafness Spondyloepiphyseal dysplasia 1830 nephrotic syndrome Spondyloepiphyseal dysplasia 163673 punctate corneal dystrophy Spondyloepiphyseal dysplasia 353298 retinal dystrophy immunodeficiency Spondyloepiphyseal dysplasia 94068 congenita 93284 Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda 1159 - progressive arthropathy Spondyloepiphyseal dysplasia 163665 tarda, Kohn type Spondyloepiphyseal dysplasia with 263463 congenital joint dyslocations, CHST3 type Spondyloepiphyseal dysplasia, →93284 Byers type Spondyloepiphyseal dysplasia, 163654 Cantu type Spondyloepiphyseal dysplasia, 93283 Kimberley type Spondyloepiphyseal dysplasia, 163668 MacDermot type Spondyloepiphyseal dysplasia, 263482 Maroteaux type Spondyloepiphyseal dysplasia, 163649 Nishimura type Spondyloepiphyseal dysplasia, →263463 Omani type Spondyloepiphyseal dysplasia, 163662 Reardon type 93351 ORPHA number Disease name ORPHA number Spondylometaphyseal dysplasia 168552 bowed forearms - facial 85167 →1855 1855 93316 93315 168555 93316 370019 168544 93314 93316 93317 93315 1856 141 54260 29822 247234 306776 225147 84271 84271 97555 93222 93220 93218 93218 dysmorphism Spondylometaphyseal dysplasia cone-rod dystrophy Spondylometaphyseal dysplasia with combined immunodeficiency Spondylometaphyseal dysplasia with enchondromatous changes Spondylometaphyseal dysplasia with severe genu valgum Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Algerian type Spondylometaphyseal dysplasia, Czarny-Ratajczak type Spondylometaphyseal dysplasia, Golden type Spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, Sutcliffe type Spondyloperipheral dysplasia short ulna Spongy degeneration of the brain Spongy myocardium Spontaneous periodic hypothermia Sporadic adult-onset ataxia of unknown etiology Sporadic hyperekplexia Sporadic IBSN Sporadic idiopathic nephrosis Sporadic idiopathic steroidresistant nephrotic syndrome Sporadic idiopathic steroidresistant nephrotic syndrome with collapsing glomerulopathy Sporadic idiopathic steroidresistant nephrotic syndrome with diffuse mesangial proliferation Sporadic idiopathic steroidresistant nephrotic syndrome with diffuse mesangial sclerosis Sporadic idiopathic steroidresistant nephrotic syndrome with focal segmental glomerulosclerosis Sporadic idiopathic steroidresistant nephrotic syndrome with focal segmental hyalinosis Disease name Sporadic idiopathic steroid93221 resistant nephrotic syndrome with 611 225147 225147 225147 227510 227510 276624 276621 276627 826 70594 94068 3181 70476 234 3198 1509 86884 51083 424019 423994 99977 424996 424996 67037 424975 424975 424039 398058 424002 423968 423968 418959 minimal changes Sporadic inclusion body myositis Sporadic infantile bilateral striatal necrosis Sporadic infantile striatonigral degeneration Sporadic infantile striatonigral necrosis Sporadic olivopontocerebellar atrophy type 1 Sporadic OPCA type 1 Sporadic pheochromocytoma Sporadic pheochromocytoma/secreting paraganglioma Sporadic secreting paraganglioma Sporotrichosis SPR deficiency Spranger-Wiedemann disease Sprengel deformity Spring catarrh Sprinz-Nelson syndrome SPS SPS SPTCL SQTS Squamous cell carcinoma of anal canal Squamous cell carcinoma of colon Squamous cell carcinoma of esophagus Squamous cell carcinoma of gallbladder and extrahepatic biliary tract Squamous cell carcinoma of gallblader and EBT Squamous cell carcinoma of head and neck Squamous cell carcinoma of liver and IBT Squamous cell carcinoma of liver and intrahepatic biliary tract Squamous cell carcinoma of pancreas Squamous cell carcinoma of penis Squamous cell carcinoma of rectum Squamous cell carcinoma of small bowel Squamous cell carcinoma of small intestine Squamous cell carcinoma of stomach → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 135 ORPHA number 213767 213716 324737 83601 2806 50944 370927 2323 36236 83484 2454 1798 3235 140917 36238 36236 36235 99919 99919 140952 827 827 85146 166427 2314 329284 413696 841 3184 240071 565 565 273 273 3186 168953 99087 210115 3194 3195 753 Disease name Squamous cell carcinoma of the cervix uteri Squamous cell carcinoma of the corpus uteri SRD5A3-CDG SREAT SSPE SSPS SSR4-CDG SSS SSSS St. Louis encephalitis Stalker-Chitayat syndrome Stanescu osteosclerosis Stapedo-vestibular ankylosis Stapes ankylosis with broad thumbs and toes Staphylococcal necrotizing pneumonia Staphylococcal scalded skin syndrome Staphylococcal scarlet fever Staphylococcal toxic-shock syndrome Staphylococcal TSS STAR syndrome Stargardt 1 Stargardt disease Stark-Kaeser syndrome Startle epilepsy STAT3 deficiency Static encephalopathy of childhood with neurdegeneration in adulthood Statin toxicity Steatocystoma multiplex Steatocystoma multiplex - natal teeth Steele-Richardson-Olszewski disease Steely hair disease Steely hair syndrome Steinert disease Steinert myotonic dystrophy Steinfeld syndrome Stem cell leukemia/lymphoma Stenosis or atrophy of the coronary ostium Sterile multifocal osteomyelitis with periostitis and pustulosis Stern-Lubinsky-Durrie syndrome Sternal malformation - vascular dysplasia Steroid 5-alpha-reductase deficiency ORPHA number 3196 461 83601 93207 →69061 909 46059 36426 828 90653 90654 166100 166100 3197 3198 3198 2833 85414 233 3199 425120 2972 3200 3074 3201 2878 168577 98868 337 3204 99064 95461 1277 2863 99905 99918 99918 66529 90041 90041 50942 137599 213711 76 Disease name Steroid dehydrogenase deficiency dental anomalies Steroid sulfatase deficiency Steroid-responsive encephalopathy associated with autoimmune thyroiditis Steroid-sensitive MCNS Steroid-sensitive nephrotic syndrome without renal biopsy Sterol 27-hydroxylase deficiency Sterol C5-desaturase deficiency Stevens-Johnson syndrome Stickler syndrome Stickler syndrome type 1 Stickler syndrome type 2 Stickler syndrome type 3 Stickler syndrome, non-ocular type Stiff baby syndrome Stiff man syndrome Stiff person syndrome Stiff skin syndrome Still disease Stilling-Turk-Duane syndrome Stimmler syndrome STING-associated vasculopathy with onset in infancy Stoelinga-de Koomen-Davis syndrome Stoll-Alembik-Finck syndrome Stoll-Géraudel-Chauvin syndrome Stoll-Kieny-Dott syndrome Stoll-Lévy-Francfort syndrome Stomatin-deficient cryohydrocytosis Stomatocytic elliptocytosis Stone man syndrome Stormorken-Sjaastad-Langslet syndrome Straddling and/or overriding mitral valve Straddling or overriding tricuspid valve Stratton-Garcia-Young syndrome Stratton-Parker syndrome Streptobacillary rat-bite fever Streptococcal toxic-shock syndrome Streptococcal TSS Stress cardiomyopathy Stress erythrocytosis Stress polycythemia Striate palmoplantar keratoderma Stromal keratitis Stromal sarcoma of the corpus uteri Strongyloidiasis ORPHA Disease name number 100984 Strümpell disease 370921 STT3A-CDG 370924 STT3B-CDG 328 830 3205 3205 3205 3205 3206 3206 166277 101029 79093 79093 163525 2806 206594 206594 98824 79093 2806 2806 356 99113 99113 3191 48377 48377 99796 313808 99796 86884 86884 251618 101030 251639 98957 Stuart-Prower factor deficiency Stuccokeratosis Sturge-Weber syndrome Sturge-Weber-Dimitri syndrome Sturge-Weber-Krabbe angiomatosis Sturge-Weber-Krabbe syndrome Stüve-Wiedemann dysplasia Stüve-Wiedemann syndrome Suarez-Stickler syndrome Sub-cortical nodular heterotopia Subacute angiohypertrophic myelomalacia Subacute ascending necrotizing myelitis Subacute cutaneous lupus erythematosus Subacute inclusion body encephalitis Subacute inflammatory demyelinating polyneuropathy Subacute inflammatory demyelinating polyradiculoneuropathy Subacute myeloid leukemia Subacute necrotizing myelitis Subacute sclerosing leukoencephalitis Subacute sclerosing panencephalitis Subacute spongiform encephalopathy, GerstmannStraussler type Subaortic course of brachiocephalic vein Subaortic course of innominate vein Subaortic stenosis - short stature Subcorneal pustular dermatitis Subcorneal pustular dermatosis Subcortical band heterotopia Subcortical gliosis of Neumann Subcortical laminar heterotopia Subcutaneous panniculitic T-cell lymphoma Subcutaneous panniculitis-like Tcell lymphoma Subependymal giant cell astrocytoma Subependymal nodular heterotopia Subependymoma Subepithelial amyloidosis of the cornea → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 136 ORPHA number 98959 155878 3190 1606 96168 180129 →2609 22 832 832 832 702 168593 130 2752 3412 99732 308386 308393 308400 99731 65682 254395 3210 57145 130 455 98961 79490 79490 247245 88633 155884 180182 96170 141096 295002 Disease name Subepithelial mucinous corneal dystrophy Submucosal cleft palate Subpulmonary stenosis Subtelomeric 1p36 deletion Subtelomeric deletion 13q34 Subtotal septate uterus Succinic acidemia Succinic semialdehyde dehydrogenase deficiency Succinyl-CoA acetoacetate transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency Succinyl-CoA:3-oxoacid CoA transferase deficiency Sudanophilic leukodystrophy, Paelizeus-Merzbacher type Sudden infant death - dysgenesis of the testes Sudden unexplained nocturnal death syndrome Sugarman syndrome Sujansky-Leonard syndrome Sulfite oxidase deficiency due to molybdenum cofactor deficiency Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Sulfocysteinuria Summerskill-Walshe-Tygstrup syndrome Summertime actinic lichenoid eruption Summitt syndrome SUNCT syndrome SUNDS Superficial epidermolytic ichthyosis Superficial granular corneal dystrophy Superficial lymphangioma Superficial lymphatic malformation Superficial siderosis Superior limbic keratoconjunctivitis Superior palpebral coloboma Supernumerary breasts Supernumerary der(22) syndrome Supernumerary nostril Supernumerary phalanges ORPHA Disease name number 295142 Supernumerary phalanges, bilateral 295140 295002 295142 295140 1450 1461 764 3193 3193 3192 391351 391351 391351 838 284113 2566 169085 391311 319269 3193 86813 3243 247165 247165 3205 242 90038 306731 295138 295136 1570 60015 1314 79098 79098 635 3237 3246 3250 Supernumerary phalanges, unilateral Supernumerary phalanx Supernumerary phalanx, bilateral Supernumerary phalanx, unilateral Supernumerary ring/marker 8 Superoinferior ventricles Suppurative myositis Supravalvar aortic stenosis Supravalvular aortic stenosis Supravalvular pulmonary stenosis SURF1-related Charcot-Marie-Tooth disease type 4 SURF1-related CMT4 SURF1-related severe demyelinating Charcot-Marie-Tooth disease Susac syndrome Susceptibility to adverse reaction due to mercaptopurine Susceptibility to chronic infection by Epstein-Barr virus Susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to viral and mycobacterial infections Susceptibility/resistance to HIV infection SVAS Sveinsson chorioretinal atrophy Sweet syndrome Swift disease Swift-Feer disease SWS Swyer syndrome Sxt-HUS Sydenham chorea Symbrachydactyly of hand and foot, bilateral Symbrachydactyly of hand and foot, unilateral Symbrachydactyly of hands and feet Symmetric parietal foramina Symmetrical thalamic calcifications Sympathetic ophthalmia Sympathetic uveitis Sympathoblastoma Symphalangism - brachydactyly Symphalangism with multiple anomalies of hands and feet Symphalangism, Cushing type ORPHA number 276630 177926 177929 206546 357332 98915 3286 3286 357332 85203 140952 93404 93402 3255 295193 295189 295191 295187 295187 295189 295191 295193 93403 93404 93405 93406 295012 3258 2498 157801 157801 295012 3253 3259 →1159 84064 2143 Disease name Symptomatic form of Coffin-Lowry syndrome in female carriers Symptomatic form of hemophilia A in female carriers Symptomatic form of hemophilia B in female carriers Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Synactyly - camptodactyly and clinodactyly of fifth fingers - bifid halluces Synaptic congenital myasthenic syndromes Syncopal paroxysmal tachycardia Syncopal tachyarythmia Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes Syndactyly - preaxial polydactyly sternal deformity Syndactyly - telecanthus anogenital and renal malformations Syndactyly of fingers 4 and 5 Syndactyly type 1 Syndactyly type 1 - microcephaly intellectual disability Syndactyly type 1, Castilla type Syndactyly type 1, Lueken type Syndactyly type 1, Montagu type Syndactyly type 1, Weidenreich type Syndactyly type 1a Syndactyly type 1b Syndactyly type 1c Syndactyly type 1d Syndactyly type 2 Syndactyly type 3 Syndactyly type 4 Syndactyly type 5 Syndactyly type 6 Syndactyly type 7 Syndactyly type 8 Syndactyly type 9 Syndactyly, Malik-Percin type Syndactyly, mitten type Syndactyly-ectodermal dysplasiacleft/lip palate Syndactyly-polydactyly-ear lobe syndrome Syndesmodysplasic dwarfism Syndromatic diarrhea Syndrome of ocular and facial anomalies, telecanthus and deafness → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 137 ORPHA Disease name number 52 Syndromic bile duct paucity 261619 261629 261600 84064 84064 77298 85275 178364 139471 2556 3434 2470 77299 178364 228426 98606 281090 281090 281090 85274 85279 85295 85286 319332 319332 3263 3262 3268 35098 3273 3273 793 93403 295195 295197 295199 295197 295199 Syndromic bile duct paucity due to a JAG1 point mutation Syndromic bile duct paucity due to a NOTCH2 point mutation Syndromic bile duct paucity due to monosomy 20p12 Syndromic diarrhea Syndromic diarrhea/Tricho-hepatoenteric syndrome Syndromic microphthalmia type 3 Syndromic microphthalmia type 4 Syndromic microphthalmia type 5 Syndromic microphthalmia type 6 Syndromic microphthalmia type 7 Syndromic microphthalmia type 8 Syndromic microphthalmia type 9 Syndromic microphthalmia type 10 Syndromic microphthalmia/anophthalmia due to OTX2 mutation Syndromic multisystem autoimmune disease due to Itch deficiency Syndromic orbital border hypoplasia Syndromic recessive X-linked ichthyosis Syndromic RXLI Syndromic X-linked ichthyosis Syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability due to JARID1C mutation Syndromic X-linked intellectual disability type 10 Syndromic X-linked intellectual disability type 11 SYNE1-related AMC SYNE1-related arthrogryposis multiplex congenita Syngnathia - cleft palate Syngnathia multiple anomalies Synostosis - microcephaly - scoliosis Synostotic plagiocephaly Synovial sarcoma Synovialosarcoma Synovitis-acne-pustulosishyperostosis-osteitis syndrome Synpolydactyly Synpolydactyly type 1 Synpolydactyly type 2 Synpolydactyly type 3 Synpolydactyly, Debeer type Synpolydactyly, Malik type ORPHA Disease name number 295195 Synpolydactyly, Vordingborg type 3275 Synspondylism 93926 Syntelencephaly 840 Syringocystadenoma papilliferum 314701 Systemic AL amyloidosis 2039 Systemic arteriovenous fistula 188 →528 364033 364033 364033 314701 401996 98849 90069 85414 158 90291 90291 220407 85414 3162 3162 134 420573 99861 169160 169157 276 169154 35078 169160 169157 Systemic capillary leak syndrome Systemic cystic angiomatosis - Seip syndrome Systemic EBV+ T-cell LPD of childhood Systemic EBV-positive T-cell lymphoproliferative disease of childhood Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic immunoglobulinic amyloidosis Systemic karyomegaly Systemic mastocytosis with an associated clonal hematologic nonmast cell lineage disease Systemic monochloroacetate poisoning Systemic polyarthritis Systemic primary carnitine deficiency Systemic scleroderma Systemic sclerosis Systemic sclerosis sine scleroderma Systemic-onset juvenile idiopathic arthritis Sézary lymphoma Sézary syndrome T2 deficiency T+B+ severe combined deficiency of adaptive immunity due to mutation in the CTPS1 gene T-ALL T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta T-B+ SCID due to CD45 deficiency T-B+ SCID due to gamma chain deficiency T-B+ SCID due to IL-7Ralpha deficiency T-B+ SCID due to JAK3 deficiency T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD45 deficiency ORPHA number 276 169154 35078 276 86871 324294 324294 86872 86872 86886 86871 300857 86872 86871 1350 3384 241043 567 2905 3287 66529 66529 66529 66529 101028 2886 329191 329191 404443 50809 31150 180 98839 3320 65250 2886 99170 1412 Disease name T-B+ severe combined immunodeficiency due to gamma chain deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency, X-linked T-cell chronic lymphocytic leukemia T-cell immunodeficiency due to RHOH deficiency T-cell immunodeficiency with epidermodysplasia verruciformis T-cell large granular lymphocyte leukemia T-cell LGL leukemia T-cell lymphoma, AILD type T-cell prolymphocytic leukemia T-cell/histiocyte rich large B cell lymphoma T-LGL T-PLL Tabatznik syndrome TAC Tacrolimus dose selection Takao syndrome Takatsuki syndrome Takayasu arteritis Tako-Tsubo cardiomyopathy Tako-tsubo syndrome Takotsubo cardiomyopathy Takotsubo syndrome TALDO Talipes equinovarus - atrial septal defect - Robin sequence Persistence of the left superior vena cava Tall stature - scoliosis macrodactyly of the great toes Tall stature - scoliosis macrodactyly of the halluces Tall stature-intellectual disabilityfacial dysmorphism syndrome Talo-patello-scaphoid osteolysis Tangier disease Tapetochoroidal dystrophy Tappeiner-Pfleger disease TAR syndrome Tarlov cyst TARP syndrome Tarsal kink syndrome Tarsal-carpal coalition syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 138 ORPHA Disease name number 371 Tarui disease 163654 Tattoo dysplasia 2731 3289 101042 453 845 309239 309192 309178 309185 669 2636 98960 857 103918 397959 397959 2655 1860 93274 3352 1519 1519 2432 1094 1974 3291 3292 284227 90389 3293 2885 1596 36367 280 96145 1627 96126 1636 1642 1580 96148 Taurodontia - absent teeth - sparse hair Taurodontism Taussig-Bing syndrome Tay syndrome Tay-Sachs disease Tay-Sachs disease, B1 variant Tay-Sachs disease, B variant, adult form Tay-Sachs disease, B variant, infantile form Tay-Sachs disease, B variant, juvenile form Taybi syndrome Taybi-Linder syndrome TBCD TBS TCP TCR-alpha-beta+ T-cell deficiency TCR-alpha-beta-positive T-cell deficiency TD TD1 TD2 TDO syndrome Teebi hypertelorism syndrome Teebi syndrome Teebi-Al Saleh-Hassoon syndrome Teebi-Kaurah syndrome Teebi-Naguib-Alawadi syndrome Teebi-Shaltout syndrome Tel Hashomer camptodactyly syndrome Telangiectasia - erythrocytosis monoclonal gammopathy perinephric-fluid collections intrapulmonary shunting Telangiectasia macularis eruptiva perstans Telecanthus - hypertelorism strabismus - pes cavus Telfer-Sugar-Jaeger syndrome Telomeric 15q deletion syndrome Telomeric deletion 1q Telomeric deletion 4p Telomeric deletion 4q Telomeric deletion 5q Telomeric deletion 7p Telomeric deletion 7q36 Telomeric deletion 9p Telomeric deletion 10p Telomeric deletion 10q ORPHA Disease name number 2308 Telomeric deletion 11q 96149 Telomeric deletion 12q 96150 Telomeric deletion 14q 531 1597 96129 96152 1590 96069 96070 96094 96071 96072 96096 96097 1745 96098 96074 96100 96101 96102 96103 96105 1705 1707 96078 96106 3379 1716 1717 96107 96109 1762 1620 75565 352737 284227 420561 397 363417 1777 1777 66627 137834 883 252018 141107 363483 88630 93937 Telomeric deletion 17p Telomeric deletion 17q Telomeric deletion 19p Telomeric deletion 20q Telomeric deletion13q Telomeric duplication 1p36 Telomeric duplication 2p Telomeric duplication 2q Telomeric duplication 3p Telomeric duplication 4p Telomeric duplication 4q Telomeric duplication 5q Telomeric duplication 6p Telomeric duplication 6q Telomeric duplication 7p Telomeric duplication 8q Telomeric duplication 9q Telomeric duplication 10q Telomeric duplication 11q Telomeric duplication 13q Telomeric duplication 14q Telomeric duplication 15q Telomeric duplication 16p Telomeric duplication 16q Telomeric duplication 17q Telomeric duplication 18q Telomeric duplication 19q Telomeric duplication 20q Telomeric duplication 22q Telomeric duplication Xq Telomeric monosomy 3p TEMF Temperature-sensitive oculocutaneous albinism type 1 TEMPI syndrome Temple-Baraitser syndrome Temporal arteritis Temtamy preaxial brachydactyly syndrome Temtamy syndrome Temtamy-Shalash syndrome Tenosynovial giant cell tumor Ter Haar syndrome Teratoma Teratoma of the central nervous system Teratoma of the nasopharynx Teratoma of the testis Terminal osseous dysplasia pigmentary defects Terminal transverse defects of arm ORPHA Disease name number 141242 Tessier number 1 cleft 141258 Tessier number 4 facial cleft 141261 Tessier number 5 facial cleft 141265 Tessier number 6 facial cleft 325124 Testicular agenesis 363494 363494 983 842 842 363489 363483 3000 3299 9 294971 3301 199310 293284 293284 3303 2564 3305 3309 3310 289522 884 314588 314588 3307 96055 9 140917 746 746 225123 216729 99042 66627 3329 1780 3312 2655 93274 1860 93274 Testicular non seminomatous germ cell tumor Testicular non-dysgerminomatous germ cell tumor Testicular regression syndrome Testicular seminoma Testicular seminomatous germ cell tumor Testicular sex cord-stromal tumor Testicular teratoma Testotoxicosis Tetanus Tetra X Tetra-amelia Tetraamelia - multiple malformations Tetragametic chimerism Tetrahydrobiopterin-responsive HPA/PKU Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketo nuria Tetralogy of Fallot Tetramelic monodactyly Tetraploidy Tetrasomy 5p Tetrasomy 9p Tetrasomy 11q24.1 Tetrasomy 12p Tetrasomy 15(q25-qter) Tetrasomy 15q26 Tetrasomy 18p Tetrasomy 21 Tetrasomy X Teunissen-Cremers syndrome TFP deficiency TFPD TFR2-related hemochromatosis TGA with cardiac malformation TGA with coarctation TGCT TH-SHFM Thakker-Donnai syndrome Thalidomide embryopathy Thanatophoric dwarfism Thanatophoric dwarfism cloverleaf skull Thanatophoric dwarfism type 1 Thanatophoric dwarfism type 2 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 139 ORPHA Disease name number 2655 Thanatophoric dysplasia 1860 Thanatophoric dysplasia type 1 93274 Thanatophoric dysplasia type 2 →175 99917 99917 88633 88633 268184 268184 199348 268184 49827 49827 268184 2405 98960 3314 3235 1506 166424 2981 3315 141030 141030 141030 3316 276241 2547 2031 614 2866 1861 97330 97330 1759 Thanatophoric dysplasia, Glasgow variant Theca (steroid-producing) cell cancer, not further specified Theca steroid-producing cell malignant tumor of ovary, not further specified Theodore's superior limbic keratoconjunctivitis Theodore's syndrome Thiamine-responsive BCKD deficiency Thiamine-responsive branchedchain 2-ketoacid dehydrogenase deficiency Thiamine-responsive encephalopathy Thiamine-responsive maple syrup urine disease Thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness Thiamine-responsive MSUD Thickened earlobes - conductive deafness Thiel-Behnke corneal dystrophy Thiemann disease, familial form Thies-Reis syndrome Thin ribs - tubular bones dysmorphism Thinking seizures Thiolase deficiency Thiopurine S-methyltransferase deficiency Third branchial cleft anomaly Third branchial cleft cyst Third branchial cleft fistula Thomas syndrome Thomas type SCA3 Thomas-Jewett-Raines syndrome Thompson-Baraitser syndrome Thomsen and Becker disease Thong-Douglas-Ferrante syndrome Thoracic dysplasia-hydrocephalus syndrome Thoracic outlet compression syndrome Thoracic outlet syndrome Thoraco-abdominal enteric duplication ORPHA Disease name number 1335 Thoraco-abdominal syndrome 3317 Thoracolaryngopelvic dysplasia 268384 268752 1803 →2199 99832 300857 36258 3204 3320 3323 67044 3002 54057 2251 294988 295112 295110 294988 295112 295110 1078 2919 83471 99868 97289 99869 97289 3326 99867 263310 263324 263317 169105 3327 95716 95712 95719 95720 97285 91347 2091 Thoracolumbosacral spina bifida aperta Thoracolumbosacral spina bifida cystica Thoracomelic dysplasia Thost-Unna palmoplantar keratoderma THR resistance syndrome THRLBCL Thromboangiitis obliterans Thrombocytopathy - asplenia miosis Thrombocytopenia - absent radius Thrombocytopenia - Robin sequence Thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenic purpura, autoimmune Thrombotic thrombocytopenic purpura Thumb deformity - alopecia pigmentation anomaly Thumb hypodactyly Thumb hypodactyly, bilateral Thumb hypodactyly, unilateral Thumb oligodactyly Thumb oligodactyly, bilateral Thumb oligodactyly, unilateral Thumb stiffness - brachydactyly intellectual disability Thurston syndrome Thymic aplasia Thymic carcinoma Thymic endocrine tumor Thymic neuroendocrine carcinoma Thymic neuroendocrine tumor Thymic-renal-anal-lung dysplasia Thymoma Thymoma type A Thymoma type AB Thymoma type B Thymoma-immunodeficiency Thyrocerebrorenal syndrome Thyroid dyshormonogenesis Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Thyroid lymphoma Thyroid stimulating hormonesecreting pituitary adenoma Thyroid-renal-digital anomalies ORPHA number Disease name Thyrotoxic hypokalemic periodic paralysis 79102 Thyrotoxic periodic paralysis 91347 Thyrotroph adenoma 2768 Tibia vara Blount 3329 Tibial aplasia - ectrodactyly 93322 Tibial hemimelia Tibial hemimelia with split 3329 hand/foot malformation 295079 Tibial hemimelia, bilateral 295077 Tibial hemimelia, unilateral Tibial hemimelia-ectrodactyly 3329 syndrome 93322 Tibial longitudinal meromelia Tibial longitudinal meromelia, 295079 bilateral Tibial longitudinal meromelia, 295077 unilateral 609 Tibial muscular dystrophy 295028 Tibio-fibular fusion 295028 Tibio-fibular synostosis Tibiofibular terminal transverse 294981 meromelia Tibiofibular terminal transverse 295099 meromelia, bilateral Tibiofibular terminal transverse 295097 meromelia, unilateral 221091 Tic douloureux 297 Tick-borne encephalitis 42665 Tietz syndrome 1662 Tight skin contracture syndrome 65283 Timothy syndrome 91500 TINU syndrome 352540 TIO 228407 TMCO1 defect syndrome 609 TMD 314667 TMEM165-CDG 99886 TNDM TNF receptor 1 associated periodic 32960 syndrome 295118 Toes absent, bilateral 295116 Toes absent, unilateral 64686 Tolosa-Hunt syndrome 1920 Toluene antenatal infection 1920 Toluene embryopathy 640 Tomaculous neuropathy →314632 Tomé-Brunet-Fardeau syndrome 1547 Tonoki-Ohura-Niikawa syndrome 2228 Tooth and nail syndrome 3460 Torg-Winchester syndrome 1827 Toriello syndrome 3338 Toriello-Carey syndrome 79347 Toriello-Higgins-Miller syndrome 3339 Toriello-Lacassie-Droste syndrome 79102 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 140 ORPHA number 51084 3341 75326 97330 294971 49382 98994 180126 268377 268748 2796 857 857 95455 95455 279894 227972 293173 230800 230800 284121 3343 858 858 93164 2950 412022 3346 2042 3347 3348 3348 3052 101028 859 859 199247 495 495 87503 420611 98871 79411 Disease name Torsade-de-pointes syndrome with short coupling interval Torticollis - keloids - cryptorchidism - renal dysplasia Tortuosity of retinal arteries TOS Total amelia Total color blindness Total congenital cataract Total septate uterus Total spina bifida aperta Total spina bifida cystica Touraine-Solente-Gole syndrome Townes syndrome Townes-Brocks syndrome Toxic epidermal necrolysis Toxic epidermolysis Toxic maculopathy due to antimalarial drugs Toxic oil syndrome Toxic pustuloderma Toxin-mediated infectious botulism Toxin-mediated infective botulism Toxixity or absent response to clozapine Toxocariasis Toxoplasma embryofetopathy Toxoplasma embryopathy TPHA TPT-PS syndrome Traboulsi syndrome Tracheal agenesis Tracheo-esophageal fistula hypospadias Tracheobronchomegaly Tracheobronchopathia osteochondroplastica Tracheopathia osteoplastica Tranebjaerg-Svejgaard syndrome Transaldolase deficiency Transcobalamin deficiency Transcobalamin II deficiency Transcortin deficiency Transgrediens et progrediens palmoplantar keratoderma Transgrediens et progrediens PPK Transgrediens palmoplantar keratoderma of Siemens Transient abnormal myelopoiesis Transient acquired pure red cell aplasia Transient bullous dermolysis of the newborn ORPHA number 98871 2312 289877 169139 300293 300293 66529 420611 391504 391504 280615 99886 329942 329942 329942 329942 329942 391504 93164 3402 3402 213746 280224 319308 319308 85451 85447 85447 85451 2486 180160 Disease name Transient erythroblastopenia of childhood Transient familial neonatal hyperbilirubinemia Transient hyperammonemia of the newborn Transient hypogammaglobulinemia of infancy Transient infantile hypertriglyceridemia and fatty liver Transient infantile hypertriglyceridemia and hepatosteatosis Transient left ventricular apical ballooning syndrome Transient myeloproliferative syndrome Transient neonatal acquired myasthenia Transient neonatal autoimmune myasthenia gravis Transient neonatal cyanosis and anemia due to Toms River Hemoglobin Transient neonatal diabetes mellitus Transient neonatal glutaric acidemia type 2 Transient neonatal glutaric aciduria type 2 Transient neonatal MAD deficiency Transient neonatal MADD Transient neonatal multiple acylCoA dehydrogenase deficiency Transient neonatal myasthenia gravis Transient pseudohypoaldosteronism Transient tyrosinemia of the neonate Transient tyrosinemia of the newborn Transitional cell carcinoma of the corpus uteri Transitional PMD Translocation carcinoma Translocation renal cell carcinoma Transthyretin amyloid cardiopathy Transthyretin amyloid neuropathy Transthyretin amyloid polyneuropathy Transthyretin-related familial amyloid cardiomyopathy Transverse limb deficiency hemangioma Transverse vaginal septum ORPHA Disease name number 32960 TRAPS syndrome 399175 Traumatic avascular necrosis 399175 Traumatic AVN 861 Treacher-Collins syndrome →1215 Treft-Sanborn-Carey syndrome 3350 64694 1822 2970 85170 863 863 3352 84064 3354 1264 3351 3360 3353 79129 3361 228379 864 3363 3355 3355 565 77258 502 75790 75790 75789 670 3123 75790 1245 453 670 2739 453 Tremor - nystagmus - duodenal ulcer Trench fever Trevor disease Triad Syndrome Triangular tibia - fibular aplasia Trichinellosis Trichinosis Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Tricho-oculo-dermo-vertebral syndrome Tricho-retino-dento-digital syndrome Trichodental syndrome Trichodermal syndrome intellectual disability Trichodermodysplasia - dental alterations Trichodysplasia - amelogenesis imperfecta Trichodysplasia - xeroderma Trichodysplasia spinulosa Trichofolliculoma Trichomegaly - retina pigmentary degeneration - dwarfism Trichoodontoonychial dysplasia Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region Trichopoliodystrophy Trichorhinophalangeal syndrome type 1 and 3 Trichorhinophalangeal syndrome type 2 Trichorrhexis nodosa syndrome Trichothiodystrophy neurocutaneous syndrome Trichothiodystrophy osteosclerosis Trichothiodystrophy - sun sensitivity Trichothiodystrophy type B Trichothiodystrophy type C Trichothiodystrophy type D Trichothiodystrophy type E Trichothiodystrophy type F Trichothiodystrophy type G Trichothiodystrophy with congenital ichthyosis → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 141 ORPHA Disease name number 1209 Tricuspid atresia 95457 Tricuspid valve agenesis 95458 Tricuspid valve prolapse ORPHA Disease name number 96100 Trisomy 8qter 236 Trisomy 9p 96101 Trisomy 9qter ORPHA Disease name number 103918 Tropical calcific chronic pancreatitis 75565 Tropical endomyocardial fibrosis 99654 Tropical pancreatic diabetes 157843 Trigeminal autonomic cephalalgia 221091 Trigeminal neuralgia 171929 Trisomy 10p 276422 Trisomy 10q22.3q23.3 103918 Tropical pancreatitis 764 Tropical pyomyositis 3368 3365 3369 1308 401764 3374 868 2950 2947 3133 869 415 3375 3375 3376 3377 96069 261344 250994 96070 313947 294026 96094 96071 96095 251038 1738 96072 96096 1742 329802 228415 96097 1745 96098 314034 96074 96121 264450 251076 1752 228399 Trigonocephaly - bifid nose - acral anomalies Trigonocephaly - broad thumbs Trigonocephaly - short stature developmental delay Trigonocephaly C syndrome Trilineage bone marrow failuredevelopmental delay syndrome Triopia Triose phosphate-isomerase deficiency Triphalangeal thumb polysyndactyly syndrome Triphalangeal thumbs brachyectrodactyly Triphalangeal thumbs - dislocation of patella Triple A syndrome Triple H syndrome Triple X syndrome Triplo-X syndrome Triploidy Trismus - pseudocamptodactyly Trisomy 1pter Trisomy 1q Trisomy 1q21.1 Trisomy 2pter Trisomy 2q23.1 Trisomy 2q31.1 Trisomy 2qter Trisomy 3pter Trisomy 3q26 Trisomy 3q29 Trisomy 4p Trisomy 4pter Trisomy 4qter Trisomy 5p Trisomy 5p13 Trisomy 5q35 Trisomy 5qter Trisomy 6pter Trisomy 6qter Trisomy 7p22.1 Trisomy 7pter Trisomy 7q11.23 Trisomy 8p Trisomy 8p23.1 Trisomy 8q Trisomy 8q12 96102 Trisomy 10qter 300305 Trisomy 11p15.4 96103 Trisomy 11qter 1699 3378 96105 261229 1705 238446 238446 1707 261204 261243 96078 96106 261290 1713 217385 139474 261272 217340 3379 3380 1715 1716 1717 261318 96107 1727 96109 1738 1742 236 1715 3375 217377 261483 261483 1762 88629 88629 49827 1349 1863 Trisomy 12p Trisomy 13 Trisomy 13qter Trisomy 14q11.2 Trisomy 14qter Trisomy 15q11-q13 Trisomy 15q11q13 Trisomy 15qter Trisomy 16p11.2p12.2 Trisomy 16p13.11 Trisomy 16pter Trisomy 16qter Trisomy 17p Trisomy 17p11.2 Trisomy 17p13.3 Trisomy 17q11.2 Trisomy 17q12 Trisomy 17q21.31 Trisomy 17qter Trisomy 18 Trisomy 18p Trisomy 18qter Trisomy 19qter Trisomy 20p Trisomy 20qter Trisomy 22q11.2 Trisomy 22qter Trisomy of the short arm of chromosome 4 Trisomy of the short arm of chromosome 5 Trisomy of the short arm of chromosome 9 Trisomy of the short arm of chromosome 18 Trisomy X Trisomy Xp11.22-p11.23 Trisomy Xq27.3-q28 Trisomy Xq27.3q28 Trisomy Xq28 Tritan colour blindness Tritanopia TRMA tRNA-LYS-related cardiomyopathy hearing loss Trochlear dysplasia 289326 Tropical spastic paraparesis 101000 Troyer syndrome 983 TRS 313906 True congenital pancreatic cyst 2138 True hermaphroditism 2512 True microcephaly 180074 True unicornuate uterus 3357 Trueb-Burg-Bottani syndrome 3384 Truncus arteriosus 228379 TS 352737 TS OCA type 1 3173 66627 91347 91347 289326 3268 3387 83317 83317 54057 85447 85451 85451 180242 3389 805 805 88924 2593 100048 73224 319325 91500 2997 3391 1063 92050 3392 640 32960 Tsao-Ellingson syndrome TSGCT TSH-oma TSH-secreting pituitary adenoma TSP Tsukahara syndrome Tsukahara-Kajii syndrome Tsutsugamushi disease Tsutsugamushi fever TTP TTR amyloid neuropathy TTR-related amyloid cardiomyopathy TTR-related cardiac amyloidosis Tubal cancer Tuberculosis Tuberous sclerosis Tuberous sclerosis complex Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Tubular aggregate myopathy Tubular duplication of the esophagus Tubular renal disease cardiomyopathy Tubulocystic carcinoma Tubulointerstitial nephritis and uveitis syndrome Tucker syndrome Tuffli-Laxova syndrome Tufted angioma Tufting enteropathy Tularemia Tulip-bulb digger's palsy Tumor necrosis factor receptor 1 associated periodic syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 142 ORPHA number 289539 352540 53715 879 3225 99053 211 99818 881 99413 2614 63440 79153 95431 1461 2889 2198 79260 79261 93554 99745 99745 99745 90038 90038 171436 158766 1895 79431 101150 101150 69723 69723 69723 28378 28378 882 28378 69723 28378 69723 75840 90002 609 Disease name Tumor susceptibility linked to germline BAP1 mutations Tumor-induced osteomalacia Tumoral calcinosis Tungiasis Tungland-Bellman syndrome Tunnel subaortic stenosis Turban tumor syndrome Turcot syndrome with polyposis Turner syndrome Turner syndrome due to structural X chromosome anomalies Turner-Kieser syndrome Turricephaly Twenty-nail dystrophy Twin to twin transfusion syndrome Twisted atrioventricular connections Twisted hair Tylosis - oesophageal carcinoma Type 1C glycogenosis Type 1D glycogenosis Type II mixed cryoglobulinemia Typhoid Typhoid fever Typhoidal salmonellosis Typical hemolytic-uremic syndrome Typical HUS Typical nemaline myopathy Typical urticaria pigmentosa Typus Edinburgensis Tyrosinase-negative oculocutaneous albinism Tyrosine hydroxylase deficiency Tyrosine hydroxylase-deficient dopa-responsive dystonia Tyrosinemia due to 4hydroxyphenylpyruvate dioxygenase deficiency Tyrosinemia due to 4hydroxyphenylpyruvic acid oxidase deficiency Tyrosinemia due to HPD deficiency Tyrosinemia due to TAT deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type 1 Tyrosinemia type 2 Tyrosinemia type 3 Tyrosinemia type II Tyrosinemia type III UCMD UCTD Udd myopathy ORPHA number 79238 178315 205 79234 79235 3403 2032 3404 308 3406 320 75840 2497 2249 1837 93320 93320 295073 295075 1122 1122 93320 295073 295075 3138 3138 52056 3405 209886 209886 35120 3138 86830 104078 98825 98827 98825 Disease name UDP-galactose-4-epimerase deficiency UES UGT deficiency UGT deficiency type 1 UGT deficiency type 2 Uhl anomaly UIP Ulbright-Hodes syndrome ULD Ulerythema ophryogenesis Ulick syndrome Ullrich disease Ulna hypoplasia Ulna hypoplasia - intellectual disability Ulna metaphyseal dysplasia syndrome Ulnar clubhand Ulnar hemimelia Ulnar hemimelia, bilateral Ulnar hemimelia, unilateral Ulnar hypoplasia - lobster-claw deformity of feet Ulnar hypoplasia - split foot Ulnar longitudinal meromelia Ulnar longitudinal meromelia, bilateral Ulnar longitudinal meromelia, unilateral Ulnar-mammary syndrome Ulnar-mammary syndrome of Pallister Ulnar/fibula ray defect brachydactyly Umbilical cord ulceration intestinal atresia UMOD-associated familial juvenile hyperuricemic nephropathy UMOD-associated FJHN UMPH1 deficiency UMS Unclassified chronic myeloproliferative disease Unclassified intestinal pseudoobstruction Unclassified mixed myelodysplastic/myeloproliferatic syndrome Unclassified myelodysplastic syndrome Unclassified myelodysplastic/myeloproliferative disease ORPHA number 251316 1264 1410 418951 424970 424970 424080 423786 213721 90002 178315 418951 423786 86830 2023 178315 319658 83468 180079 180074 93176 268947 101071 97363 99802 97363 97363 268943 295148 295012 1464 99069 79146 620 Disease name Unclassified overlapping connective tissue disease Uncombable hair - retinal pigmentary dystrophy - dental anomalies - brachydactyly Uncombable hair syndrome Undifferentiated carcinoma of esophagus Undifferentiated carcinoma of liver and IBT Undifferentiated carcinoma of liver and intrahepatic biliary tract Undifferentiated carcinoma of pancreas with osteoclast-like giant cells Undifferentiated carcinoma of stomach Undifferentiated carcinoma of the corpus uteri Undifferentiated connective tissue syndrome Undifferentiated embryonal sarcoma of the liver Undifferentiated esophageal carcinoma Undifferentiated gastric carcinoma Undifferentiated myeloproliferative disease Undifferentiated pleomorphic sarcoma Undifferentiated sarcoma of the liver Unexplained intellectual disability Unicameral bone cyst Unicornuate uterus with rudimentary horn Unicornuate uterus without rudimentary horn Unilateral congenital megacalycosis Unilateral focal polymicrogyria Unilateral hemispheric polymicrogyria Unilateral MCDK Unilateral megalencephaly Unilateral multicystic dysplastic kidney Unilateral multicystic renal dysplasia Unilateral polymicrogyria Unilateral PPD2 Unilateral syndactyly of digits 2-5 Univentricular heart Univentricular heart with single atrio-ventricular valve Universal melanosis Universal mesentery → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 143 ORPHA Disease name number 84096 Unknown leukodystrophy 99104 Unroofed coronary sinus 99139 Unstable hemoglobin disease 308 251009 251004 96179 96180 96190 96181 96191 96182 96192 96183 231147 96193 97678 99324 96184 96334 98754 98795 96185 96186 96194 96187 96195 96188 261519 261524 3408 2489 295049 2497 268740 268770 2023 93583 488 530 221145 3409 1839 94059 35120 79238 30 210128 2704 Unverricht-Lundborg disease UPD(1)mat UPD(1)pat UPD(2)mat UPD(4)mat UPD(5)pat UPD(6)mat UPD(6)pat UPD(7)mat UPD(7)pat UPD(9)mat UPD(11)mat UPD(11)pat UPD(13)mat UPD(13)pat UPD(14)mat UPD(14)pat UPD(15)mat UPD(15)pat UPD(16)mat UPD(20)mat UPD(20)pat UPD(21)mat UPD(21)pat UPD(22)mat UPD(X)mat UPD(X)pat Upington disease Upper limb defect - eye and ear abnormalities Upper limb hypertrophy Upper limb mesomelic dysplasia Upper thoracic spina bifida aperta Upper thoracic spina bifida cystica UPS Upshaw-Schulman syndrome Urachal cyst Urbach-Wiethe disease Urban-Rifkin-Davis syndrome Urban-Rogers-Meyer syndrome Urban-Schosser-Spohn syndrome Uremic pruritus Uridine 5'-monophosphate hydrolase deficiency Uridine diphosphate galactose-4epimerase deficiency Uridine monophosphate synthetase deficiency Urocanic aciduria Urofacial syndrome ORPHA number 83628 98606 79457 886 231169 231178 231183 886 231169 231178 231183 2032 180145 180139 180118 180118 178338 1473 39044 3437 99771 370109 887 3412 887 25980 2478 65681 180247 206489 206489 180247 158048 88639 228123 99054 1548 2806 2806 3416 1122 3417 2460 216796 2478 888 314679 Disease name Urorectal septum malformation sequence Urrets-Zavalia syndrome Urticaria pigmentosa USH USH1 USH2 USH3 Usher syndrome Usher syndrome type 1 Usher syndrome type 2 Usher syndrome type 3 Usual interstitial pneumonia Uterine cervical aplasia and agenesis Uterine hypoplasia Uterus arcuatus Uterus cordiformis UV-sensitive syndrome Uveal coloboma - cleft lip and palate - intellectual disability Uveal melanoma Uveomenigitic syndrome Uvular cleft v-AT VACTERL association VACTERL with hydrocephalus VACTERL/VATER association Vacuolar myopathy Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vaginal atresia Vaginal carcinoma Vaginal germ cell cancer Vaginal germ cell malignant tumor Vaginal malignant epithelial tumor VAHS Valine metabolic defect Valley fever Valvular pulmonary stenosis Van Benthem-Driessen-Hanveld syndrome Van Bogaert disease Van Bogaert encephalitis Van Buchem disease Van den Berghe-Dequecker syndrome Van den Bosch syndrome Van den Ende-Gupta syndrome Van der Hoeve syndrome Van der Knaap syndrome Van der Woude syndrome Van Maldergem syndrome ORPHA number Disease name Van Regemorter-Pierquin-Vamos syndrome 73 Vanishing bone disease 983 Vanishing testes syndrome 983 Vanishing testis syndrome 729 Vaquez disease 79253 Variant phenylketonuria 79253 Variant PKU 291 Varicella virus antenatal infection 79473 Variegate porphyria 415675 Variola 404553 Vasculitis due to ADA2 deficiency Vasoproliferative tumor of ocular 353356 fundus 353356 Vasoproliferative tumor of retina →261483 Vasquez-Hurst-Sotos syndrome 887 VATER association Vater-like syndrome with 52047 pulmonary hypertension, abnormal ears and growth deficiency 228379 VATS 898 VCAN-related vitreoretinopathy 289157 VDDI 93160 VDDR II 289157 VDDR-I 2460 VDEGS 93160 VDRR II 1053 Vein of Galen aneurysm Vein of Galen arteriovenous 1053 malformations 3424 Velo-facial-skeletal syndrome 567 Velocardiofacial syndrome 29207 Venereal arthritis 319234 Venezuelan hemorrhagic fever 357131 Venous cervical rib syndrome 357131 Venous costoclavicular syndrome 357131 Venous hyperabduction syndrome Venous malformations with glomus 83454 cells 357131 Venous scalenus anticus syndrome Venous thoracic outlet compression 357131 syndrome 357131 Venous thoracic outlet syndrome 357131 Venous TOS Ventricular extrasystoles with 3201 syncopal episodes - perodactyly Robin sequence 216694 Ventricular inversion Ventricular septal defect with aortic 99094 insufficiency Ventriculoarterial and 216694 atrioventricular discordance Ventriculoarterial discordance with 860 atrioventricular concordance 2899 Verloes-Bourguignon syndrome 3419 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 144 ORPHA Disease name number 2496 Verloes-David syndrome 50817 Verloes-Deprez syndrome 2983 Verloes-Gillerot-Fryns syndrome 2551 3429 70476 97282 79467 26793 252175 892 1493 3433 3434 97282 97282 206991 48435 180176 99916 158048 228379 280068 1876 73246 353344 420556 420556 3006 28 79310 79311 308442 28 79310 79311 Verloes-Van Maldergem-de Marneffe syndrome Verloove Vanhorick-Brubakk syndrome Vernal keratoconjunctivitis Verner-Morrison syndrome Verrucous nevus Very long chain acyl-CoA dehydrogenase deficiency Vestibular schwannoma VHL Vici syndrome Viljoen-Kallis-Voges syndrome Viljoen-Smart syndrome VIP-secreting tumor VIPoma Viral myositis Viral vasculitis not related to HBV or HCV Virginal breast hypertrophy Virilizing ovarian tumor Virus-associated hemophagocytis syndrome Virus-associated trichodysplasia spinulosa Visceral calciphylaxis Visceral myopathy - familial external ophthalmoplegia Visceral neuropathy - brain anomalies - facial dysmorphism developmental delay Visible and exudative idiopathic juxtafoveolar retinal telangiectasis Visual snow phenomenon Visual snow syndrome Vitamin B6-responsive seizures Vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia type cblA Vitamin B12-responsive methylmalonic acidemia type cblB Vitamin B12-responsive methylmalonic acidemia, type cblDv2 Vitamin B12-responsive methylmalonic aciduria Vitamin B12-responsive methylmalonic aciduria type cblA Vitamin B12-responsive methylmalonic aciduria, type cblB ORPHA number 308442 27 79312 289916 27 79312 289916 289157 289157 93160 93160 1914 413674 1243 179 247871 898 26793 26793 386 2451 83454 79124 3437 494 79395 2427 35737 83600 364 98941 892 892 238557 386 636 363700 3439 903 166078 166081 Disease name Vitamin B12-responsive methylmalonic aciduria, type cblDv2 Vitamin B12-unresponsive methylmalonic acidemia Vitamin B12-unresponsive methylmalonic acidemia type mutVitamin B12-unresponsive methylmalonic acidemia type mut0 Vitamin B12-unresponsive methylmalonic aciduria Vitamin B12-unresponsive methylmalonic aciduria type mutVitamin B12-unresponsive methylmalonic aciduria type mut0 Vitamin D dependent rickets type I Vitamin D-dependency type I Vitamin D-dependent rickets type II Vitamin D-resistant rickets type II Vitamin K antagonists embryofetopathy Vitamin K antagonists toxicity or dose selection Vitelliform macular dystrophy type 2 Vitiliginous choroiditis Vitiligo-associated autoimmune disease Vitreoretinal degeneration, Wagner type VLCAD deficiency VLCADD VMC VMCM VMGLOM VODI syndrome Vogt-Koyanagi-Harada disease Vohwinkel syndrome Vohwinkel syndrome - ichthyosis Volcke-Soekarman syndrome Volubilis syndrome Von Economo encephalitis Von Gierke disease Von Hippel anomaly Von Hippel-Lindau disease Von Hippel-Lindau syndrome Von Hippel-Lindau-dependent polycythemia Von Meyenburg complexes disease Von Recklinghausen disease Von Recklinghausen disease due to NF1 mutation or intragenic deletion Von Voss-Cherstvoy syndrome Von Willebrand disease Von Willebrand disease type 1 Von Willebrand disease type 2 ORPHA Disease name number 166084 Von Willebrand disease type 2A 166087 Von Willebrand disease type 2B 166090 Von Willebrand disease type 2M 166093 Von Willebrand disease type 2N 166096 Von Willebrand disease type 3 240921 Voriconazole toxicity 353356 VPTR 99094 VSD with aortic insufficiency 357131 VTOS 137583 Vulvar intraepithelial neoplasia 137583 Vulvar intraepithelial tumor 83453 Vulvovaginal gingival syndrome 206492 Vulvovaginal rhabdomyosarcoma 53696 Vuopala disease 888 2754 2754 85128 2804 2180 1106 3440 894 895 352740 896 897 896 897 98960 897 280558 247709 898 898 893 90033 357332 90033 2379 33226 90362 1068 899 1453 2078 2510 2510 3214 VWS Váradi syndrome Váradi-Papp syndrome Västerbotten dystrophy W syndrome Waaler-Aarskog syndrome Waardenburg anophthalmia syndrome Waardenburg syndrome Waardenburg syndrome type 1 Waardenburg syndrome type 2 Waardenburg syndrome type 2 with ocular albinism Waardenburg syndrome type 3 Waardenburg syndrome type 4 Waardenburg syndrome with limb anomalies Waardenburg-Hirschsprung syndrome Waardenburg-Jonker corneal dystrophy Waardenburg-Shah syndrome WABS Wagenmann-Froboese syndrome Wagner disease Wagner syndrome WAGR syndrome wAHA Wahab syndrome wAIHA Waisman syndrome Waldenström macroglobulinemia Waldmann disease Walker-Dyson syndrome Walker-Warburg syndrome Wallis-Zieff-Goldblatt syndrome Walt Disney dwarfism WARBM Warburg micro syndrome Warburg-Thomsen syndrome → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 145 ORPHA number 1052 96061 90033 1541 280558 51636 51636 69745 906 1046 100067 97282 →636 33577 284395 97282 99971 3447 →3447 3448 33577 33577 1521 900 228254 3449 3344 3450 213736 213736 213736 213736 284395 99971 263331 146 1373 901 2815 83330 652 Disease name Warburton-Anyane-Yeboa syndrome Warkany syndrome Warm AIHA Warman-Mulliken-Hayward syndrome Warsaw breakage syndrome Warts-hypogammaglobulinemiainfections-myelokathexis Warts-infections-leukopeniamyelokatexis Warty dyskeratoma WAS Water-West syndrome Waterhouse-Friderichsen syndrome Watery diarrhea - hypokalemia achlorhydria Watson syndrome WCD WDFA WDHA syndrome WDLS Weaver syndrome Weaver-like syndrome Weaver-Williams syndrome Weber-Christian disease Weber-Christian panniculitis Webster-Deming syndrome Wegener granulomatosis Weidman juvenile elastoma Weill-Marchesani syndrome Weismann-Netter syndrome Weissenbacher- Zweymuller syndrome Well-differentiated endocrine neoplasm of corpus uteri Well-differentiated endocrine neoplasm of endometrium Well-differentiated endocrine tumor of corpus uteri Well-differentiated endocrine tumor of endometrium Well-differentiated fetal adenocarcinoma of the lung Well-differentiated liposarcoma Well-differentiated thymic neuroendocrine carcinoma Well-differentiated thyroid carcinoma Wellesley-Carman-French syndrome Wells syndrome Wells-Jankovic syndrome Werdnig-Hoffmann disease Wermer syndrome ORPHA Disease name number 3332 Werner mesomelic syndrome 902 Werner syndrome 1979 3451 83476 83476 2435 83593 83593 681 952 952 90649 51636 3452 2053 228290 2475 3207 370131 171723 171723 1489 2779 3454 116 2156 3455 319182 3456 739 904 904 411501 51636 654 893 220 905 3459 3460 169095 2901 94087 Werner-like syndrome due to combined growth factor deficiency West syndrome West-Nile encephalitis West-Nile fever Westerhof-Beemer-Cormane syndrome Western equine encephalitis Western equine encephalomyelitis Westphall disease Weyers acrodental dysostosis Weyers acrofacial dysostosis Whelan syndrome WHIM syndrome Whipple disease Whistling face syndrome White fibrous papulosis of the neck White forelock with malformations White matter hypoplasia - corpus callosum agenesis - intellectual disability White platelet syndrome White sponge nevus White sponge nevus of Cannon Whooping cough Whyte-Murphy syndrome Wieacker-Wolff syndrome Wiedemann-Beckwith syndrome Wiedemann-Oldigs-Oppermann syndrome Wiedemann-Rautenstrauch syndrome Wiedemann-Steiner syndrome Wildervanck syndrome Willi-Prader syndrome Williams syndrome Williams-Beuren syndrome Williams-Campbell syndrome WILM Wilms tumor Wilms tumor - aniridia genitourinary anomalies intellectual disability Wilms tumor and pseudohermaphroditism Wilson disease Wilson-Turner syndrome Winchester syndrome Winged helix deficiency Winged scapula Winkelmann cytophagic panniculitis ORPHA Disease name number 2515 Winship-Viljoen-Leary syndrome 906 Wiskott-Aldrich syndrome 829 Wissler-Fanconi syndrome 2228 Witkop syndrome 101068 Witschel dystrophy 85291 Wittwer syndrome 3237 WL syndrome 247768 WNT4 deficiency 1667 Wolcott-Rallison syndrome 280 3080 3463 411590 75233 3464 2571 137658 170 1409 79414 420686 65282 420686 65282 170 1409 65282 79414 65282 3465 2790 178475 165955 2834 2834 1667 3440 902 894 895 896 897 Wolf-Hirschhorn syndrome Wolff-Zimmermann syndrome Wolfram syndrome Wolfram-like syndrome Wolman disease Woodhouse-Sakati syndrome Woods-Black-Norbury syndrome Woods-Crouchman-Huson syndrome Woolly hair Woolly hair - hypotrichosis everted lower lip - outstanding ears Woolly hair nevus Woolly hair-palmoplantar hyperkeratosis syndrome Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome Woolly hair-palmoplantar keratoderma syndrome Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Wooly hair Wooly hair - hypotrichosis - everted lower lip - outstanding ears Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy Wooly hair nevus Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome Worster-Drought syndrome Worth syndrome Wound botulism Wound myiasis Wrinkled skin syndrome Wrinkly skin syndrome WRS WS WS WS1 WS2 WS3 WS4 → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 146 ORPHA Disease name number 163746 WS4 plus 2834 WSS 3466 WT limb-blood syndrome 3411 899 53719 96201 43 2182 43 47 43 88917 85278 181 85297 85292 139583 1131 481 391327 111 329235 329235 596 163961 139396 101075 101076 101077 101078 99014 352675 35173 324601 1497 Wunderlich syndrome WWS Wyburn-Mason syndrome X small rings X-ALD X-linked acqueductal stenosis X-linked adrenoleukodystrophy X-linked agammaglobulinemia X-linked ALD X-linked Alport syndrome X-linked Angelman-like syndrome X-linked anhidrotic ectodermal dysplasia X-linked ataxia-deafness syndrome X-linked ataxia-dementia syndrome X-linked auditory neuropathy with peripheral sensory neuropathy type 1 X-linked branchial arch syndrome X-linked bulbospinal amyotrophy X-linked calvarial hyperostosis X-linked cardioskeletal myopathy and neutropenia X-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked centronuclear myopathy X-linked cerebral - cerebellar coloboma syndrome X-linked cerebral adrenoleukodystrophy X-linked Charcot-Marie-Tooth disease type 1 X-linked Charcot-Marie-Tooth disease type 2 X-linked Charcot-Marie-Tooth disease type 3 X-linked Charcot-Marie-Tooth disease type 4 X-linked Charcot-Marie-Tooth disease type 5 X-linked Charcot-Marie-Tooth disease type 6 X-linked chondrodysplasia punctata type 2 X-linked cleft palate and ankyloglossia X-linked complicated corpus callosum dysgenesis ORPHA number 306617 90001 95702 67044 79495 565 1661 52503 85453 198 85321 383 139557 1018 1145 139557 139557 163966 35173 163966 93951 139557 363727 373 53351 75497 98863 293621 85294 →994 Disease name X-linked complicated spastic paraplegia type 1 X-linked cone dysfunction syndrome with myopia X-linked congenital adrenal hypoplasia X-linked congenital dyserythropoietic anemia with thrombocytopenia X-linked congenital generalized hypertrichosis X-linked copper deficiency X-linked corneal dermoid X-linked creatine transporter deficiency X-linked cutaneous amyloidosis X-linked cutis laxa X-linked deafness - intellectual disability syndrome X-linked deafness type 2 X-linked dHMN X-linked diffuse leiomyomatosis Alport syndrome X-linked distal arthrogryposis multiplex congenita X-linked distal hereditary motor neuropathy X-linked distal spinal muscular atrophy X-linked dominant chondrodysplasia - hydrocephaly microphthalmia X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, ChassaingLacombe type X-linked dominant intellectual disability - epilepsy X-linked dSMA X-linked dyserythropoetic anemia with abnormal platelets and neutropenia X-linked dysplasia gigantism syndrome X-linked dystonia-parkinsonism X-linked Ehlers-Danlos syndrome X-linked Emery-Dreifuss muscular dystrophy X-linked endothelial corneal dystrophy X-linked epilepsy - learning disabilities - behavior disorders X-linked fetal akinesia syndrome ORPHA number Disease name X-linked hereditary sensory and 139583 autonomic neuropathy with deafness 139583 X-linked HSAN with deafness 2182 X-linked HSAS 2182 X-linked hydrocephalus 2182 101088 181 89936 89936 461 231692 317476 2571 16 1145 85327 85338 324410 137831 85330 85278 163979 85280 1568 2958 94083 85319 85282 X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked hyper-IgM syndrome X-linked hypohidrotic ectodermal dysplasia X-linked hypophosphatemia X-linked hypophosphatemic rickets X-linked ichthyosis X-linked IGHD X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunoneurologic disorder X-linked incomplete achromatopsia X-linked infantile spinal muscular atrophy X-linked intellectual disability acromegaly - hyperactivity X-linked intellectual disability ataxia - apraxia X-linked intellectual disability cardiomegaly - congestive heart failure X-linked intellectual disability cerebellar hypoplasia X-linked intellectual disability corpus callosum agenesis - spastic quadriparesis X-linked intellectual disability craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy X-linked intellectual disability craniofacioskeletal syndrome X-linked intellectual disability cubitus valgus - dysmorphism X-linked intellectual disability Dandy-Walker malformation - basal ganglia disease - Seizures X-linked intellectual disability dysmorphism - cerebral atrophy X-linked intellectual disability dystonia - dysarthria X-linked intellectual disability epilepsy - progressive joint contractures - dysmorphism X-linked intellectual disability epileptic seizures - hypogenitalism microcephaly - obesity → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 147 ORPHA number 3459 85317 85331 59 85329 85281 85320 251383 163937 163971 →3057 163956 2898 85318 3077 3052 3055 →702 163982 364028 3242 67045 776 85273 Disease name X-linked intellectual disability gynecomastia - obesity X-linked intellectual disability hypogammaglobulinemia progressive neurological deterioration X-linked intellectual disability hypogonadism - ichthyosis - obesity - short stature X-linked intellectual disability hypotonia X-linked intellectual disability hypotonia - facial dysmorphism aggressive behavior X-linked intellectual disability hypotonia - recurrent Infections X-linked intellectual disability macrocephaly - macroorchidism X-linked intellectual disability microcephaly - cortical malformation - thin habitus X-linked intellectual disability microcephaly - pontocerebellar hypoplasia X-linked intellectual disability microcephaly - testicular failure X-linked intellectual disability monoamine oxidase A metabolism anomaly X-linked intellectual disability - nail dystrophy - seizures X-linked intellectual disability plagiocephaly X-linked intellectual disability precocious puberty - obesity X-linked intellectual disability psychosis - macroorchidism X-linked intellectual disability seizures - psoriasis X-linked intellectual disability short stature - obesity X-linked intellectual disability Spastic paraplegia with iron deposits X-linked intellectual disability spastic quadriparesis X-linked intellectual disability due to GRIA3 anomalies X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability with marfanoid habitus X-linked intellectual disability, Abidi type ORPHA number 85274 85276 1193 3056 85293 85277 163971 →93950 93947 3059 93952 163961 →1762 775 85283 163937 163956 85322 93945 →776 3061 3242 85285 3062 85323 85286 85324 85287 Disease name X-linked intellectual disability, Ahmad type X-linked intellectual disability, Armfield type X-linked intellectual disability, Atkin type X-linked intellectual disability, Brooks type X-linked intellectual disability, Cabezas type X-linked intellectual disability, Cantagrel type X-linked intellectual disability, Cilliers type X-linked intellectual disability, Fichera type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Kroes type X-linked intellectual disability, Lubs type X-linked intellectual disability, Martinez type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, Porteous type X-linked intellectual disability, Raymond type X-linked intellectual disability, Raynaud type X-linked intellectual disability, Renpenning type X-linked intellectual disability, Schimke type X-linked intellectual disability, Schutz type X-linked intellectual disability, Seemanova type X-linked intellectual disability, Shashi type X-linked intellectual disability, Shrimpton type X-linked intellectual disability, Siderius type ORPHA number 3063 85278 85325 85288 85326 93950 85328 163976 85289 85290 3064 85291 85337 85295 423479 85332 231692 90625 90625 90625 90625 792 79447 452 2148 452 452 Disease name X-linked intellectual disability, Snyder type X-linked intellectual disability, South African type X-linked intellectual disability, Stevenson type X-linked intellectual disability, Stocco Dos Santos type X-linked intellectual disability, Stoll type X-linked intellectual disability, Sutherland-Haan type X-linked intellectual disability, Turner type X-linked intellectual disability, Van Esch type X-linked intellectual disability, Vitale type X-linked intellectual disability, Wilson type X-linked intellectual disability, Wittner type X-linked intellectual disability, Wittwer type X-linked intellectual disability, Zorick type X-linked intellectual disabilitychoreoathetosis-abnormal behavior syndrome X-linked intellectual disability-limb spasticity-retinal dystrophydiabetes insipidus syndrome X-linked intellectual disabilityretinitis pigmentosa syndrome X-linked isolated growth hormone deficiency X-linked isolated neurosensory deafness type DFN X-linked isolated neurosensory hearing loss type DFN X-linked isolated sensorineural deafness type DFN X-linked isolated sensorineural hearing loss type DFN X-linked juvenile retinoschisis X-linked lethal multiple pterygium syndrome X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies X-linked lissencephaly type 1 X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with ambiguous genitalia → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 148 ORPHA number 2442 1131 1131 59306 319605 319623 319612 319612 776 383 383 383 383 383 319605 319623 319612 319612 25980 178461 85334 85336 314978 777 777 90625 90625 90625 Disease name X-linked lymphoproliferative disease X-linked mandibulofacial dysostosis X-linked mandibulofacial dysostosis with limb anomalies X-linked McLeod syndrome X-linked mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency X-linked mental retardation with marfanoid habitus X-linked mixed conductive and neurosensory deafness X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural deafness X-linked mixed conductive and sensorineural hearing loss X-linked mixed deafness with perilymphatic gusher X-linked MSMD X-linked MSMD due to CYBB deficiency X-linked MSMD due to IKBKG deficiency X-linked MSMD due to NEMO deficiency X-linked myopathy with excessive autophagy X-linked myopathy with postural muscle atrophy X-linked neurodegenerative syndrome, Bertini type X-linked neurodegenerative syndrome, Hamel type X-linked non progressive cerebellar ataxia X-linked non-specific intellectual disability X-linked non-syndromic intellectual disability X-linked non-syndromic neurosensory deafness type DFN X-linked non-syndromic neurosensory hearing loss type DFN X-linked non-syndromic sensorineural deafness type DFN ORPHA number 90625 306597 306597 306597 391330 363654 1175 1652 83648 1652 54 85453 1852 792 86788 75563 2802 2802 99015 100997 171607 1145 404521 85297 85292 93349 168544 383 852 3467 93602 93601 93601 93601 Disease name X-linked non-syndromic sensorineural hearing loss type DFN X-linked Opitz BBB/G syndrome X-linked Opitz G/BBB syndrome X-linked Opitz syndrome X-linked osteoporosis with fractures X-linked parkinsonism-spasticity syndrome X-linked progressive cerebellar ataxia X-linked recessive hypercalciuric hypophosphatemic rickets X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction X-linked recessive nephrolithiasis X-linked recessive ocular albinism X-linked reticulate pigmentary disorder with systemic manifestations X-linked retinal dysplasia X-linked retinoschisis X-linked severe congenital neutropenia X-linked sideroblastic anemia X-linked sideroblastic anemia and ataxia X-linked sideroblastic anemia with ataxia X-linked spastic paraplegia type 2 X-linked spastic paraplegia type 16 X-linked spastic paraplegia type 34 X-linked spinal muscular atrophy type 2 X-linked spinal muscular atrophy with respiratory distress X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4 X-linked spondyloepimetaphyseal dysplasia X-linked spondylometaphyseal dysplasia X-linked stapes gusher syndrome X-linked thrombocytopenia with normal platelets Xanthic urolithiasis Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency Xanthine dehydrogenase deficiency Xanthine oxidase deficiency Xanthine oxidoreductase deficiency ORPHA Disease name number 3467 Xanthine stone disease 93601 Xanthinuria type I 93602 Xanthinuria type II 158003 Xanthoma disseminatum 2882 Xanthomatosis with sisterolemia 79433 79155 67044 93602 93601 53351 293621 910 276249 276252 276255 276258 276261 276264 276267 90342 1569 220295 75496 181 101088 412069 3469 452 596 79278 264580 89936 461 776 596 54 306597 2442 85453 792 75563 2802 231393 25980 Xanthous oculocutaneous albinism Xanthurenic aciduria XDAT XDH and AOX dual deficiency XDH deficiency XDP XECD Xeroderma pigmentosum Xeroderma pigmentosum complementation group A Xeroderma pigmentosum complementation group B Xeroderma pigmentosum complementation group C Xeroderma pigmentosum complementation group D Xeroderma pigmentosum complementation group E Xeroderma pigmentosum complementation group F Xeroderma pigmentosum complementation group G Xeroderma pigmentosum variant Xeroderma pigmentosum with neurologic manifestation Xeroderma pigmentosum-Cockayne syndrome complex XGPT deficiency XHED XHIGM Xia-Gibbs syndrome XK aprosencephaly XLAG syndrome XLCNM XLDPP XLG XLH XLI XLMR with marfanoid habitus XLMTM XLOA XLOS XLP XLPDR XLRS XLSA XLSA-A XLTT XMEA → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order – May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 149 ORPHA Disease name number 317476 XMEN 93601 XO deficiency 93601 XOR deficiency 910 XP 220295 XP/CS complex 261476 Xp21 microdeletion syndrome 284180 1643 276249 276252 276255 276258 363654 276261 276264 276267 90342 314389 1018 261483 261483 243 2855 393 243 3375 168558 2843 75496 370930 2616 99829 99829 662 79434 707 99829 662 876 252006 252006 2828 2255 3240 314485 314485 3471 3055 2828 Xp22.13p22.2 duplication syndrome Xp22.3 microdeletion syndrome XPA XPB XPC XPD XPDS XPE XPF XPG XPV Xq12-q13.3 duplication syndrome Xq22.3 microdeletion syndrome Xq27.3-q28 microduplication syndrome Xq27.3q28 duplication syndrome XX female gonadal dysgenesis XX gonodal dysgenesis - deafness XX, male syndrome XX-GD XXX syndrome XY sex reversal - adrenal failure Xylitol dehydrogenase deficiency Xylosylprotein 4-betagalactosyltransferase deficiency XYLT1-CDG Yakut short stature syndrome Yellow fever Yellow Jack Yellow nail syndrome Yellow oculocutaneous albinism Yersiniosis YF YNS Yolk sac tumor Yolk sac tumor of central nervous system Yolk sac tumor of CNS YOPD Yorifuji-Okuno syndrome Yoshimura-Takeshita syndrome Young adult-onset dHMN Young adult-onset distal hereditary motor neuropathy Young syndrome Young-Hugues syndrome Young-onset Parkinson disease ORPHA Disease name number 3472 Yunis-Varon syndrome 319213 Zambian hemorrhagic fever 98912 ZASP-related myofibrillar myopathy 97240 Zebra body myopathy 217017 Zechi-Ceide syndrome 912 Zellweger syndrome 369942 50812 911 3301 3473 1775 3253 3253 913 98995 2835 912 3474 295187 295189 295191 295193 295193 295189 295191 295187 73263 Zellweger-like contiguous gene deletion syndrome Zellweger-like syndrome without peroxisomal anomalies Zeta-associated-protein 70 deficiency Zimmer phocomelia Zimmermann-Laband syndrome Zinsser-Engman-Cole syndrome Zlotogora-Ogur syndrome Zlotogora-Zilberman-Tenenbaum syndrome Zollinger-Ellison syndrome Zonular cataract Zori-Stalker-Williams syndrome ZS Zunich-Kaye syndrome Zygodactyly type 1 Zygodactyly type 2 Zygodactyly type 3 Zygodactyly type 4 Zygodactyly, Castilla type Zygodactyly, Lueken type Zygodactyly, Montagu type Zygodactyly, Weidenreich type Zygomycosis → This disease is deprecated and has been moved to another (see annex). The indicated Orphanumber should now be used. Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 150 ANNEX List of diseases to be used instead of deprecated entities → Use these ORPHA number ORPHA Disease to be used number Saethre-Chotzen syndrome Saethre-Chotzen 794 syndrome Schinzel-Giedion 798 syndrome 823 Isolated spina bifida 794 → Use these ORPHA number ORPHA Disease to be used number 138 CHARGE syndrome Cartilage-hair hypoplasia Cartilage-hair 175 hypoplasia 175 instead of the deprecated entities Deprecated ORPHA number 1474 1838 93275 193 Cohen syndrome 3084 193 Cohen syndrome 2829 193 Cohen syndrome 3271 244 280 288 288 288 300 528 636 646 672 682 702 Primary ciliary dyskinesia Wolf-Hirschhorn syndrome Hereditary elliptocytosis Hereditary elliptocytosis Hereditary elliptocytosis Bifunctional enzyme deficiency Berardinelli-Seip congenital lipodystrophy Neurofibromatosis type 1 Niemann-Pick disease type C Pallister-Hall syndrome Hyperkalemic periodic paralysis PelizaeusMerzbacher disease X-linked intellectual disability with marfanoid habitus Axenfeld-Rieger 782 syndrome 776 98861 98788 98867 98864 98865 2981 1060 3444 79289 2113 680 85333 163953 1831 Deprecated entities Colobomatous microphthalmia - heart disease - hearing loss Metaphyseal dysplasia without hypotrichosis Thanatophoric dysplasia, Glasgow variant Mirhosseini-HolmesWalton syndrome Partington-Anderson syndrome Radio-ulnar synostosis retinal pigment abnormalities Primary ciliary dyskinesia, Kartagener type Pitt-Rogers-Danks syndrome Hereditary pyropoikilocytosis Common hereditary elliptocytosis Homozygous hereditary elliptocytosis Pseudo-Zellweger syndrome Systemic cystic angiomatosis - Seip syndrome Watson syndrome Niemann-Pick disease type D Congenital hypothalamic hamartoma syndrome Normokalemic periodic paralysis X-linked intellectual disability - Spastic paraplegia with iron deposits X-linked intellectual disability, Raymond type De Hauwere syndrome 869 Triple A syndrome Waardenburg-Shah syndrome Xeroderma 910 pigmentosum 912 Zellweger syndrome Acroosteolysis 955 dominant type 897 969 Acromicric dysplasia Fetal akinesia deformation sequence Ankyloblepharon 1071 ectodermal defects cleft lip/palate Ankyloblepharon 1071 ectodermal defects cleft lip/palate 994 Ankyloblepharon 1071 ectodermal defects cleft lip/palate 1159 1215 1215 1234 1263 1359 1394 Progressive pseudorheumatoid arthropathy of childhood Autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome Bartsocas-Papas syndrome Boomerang dysplasia Carney complex Cerebro-faciothoracic dysplasia 1466 COFS syndrome 1487 Cooks syndrome Coxopodopatellar 1509 syndrome Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf instead of the deprecated entities Deprecated ORPHA number Deprecated entities 1219 Aurocephalosyndactyly 3106 Robinow-Sorauf syndrome 3118 Rudiger syndrome 93968 Meningocele Achalasia-alacrimia syndrome 99777 918 1569 1271 2853 2569 ABCD syndrome De Sanctis-Cacchione syndrome Bowen syndrome Serpentine fibula polycystic kidneys Moore-Federman syndrome 995 X-linked fetal akinesia syndrome 1401 CHAND syndrome 3022 Rapp-Hodgkin syndrome 99694 Alveolar synechiaankyloblepharonectodermal dysplasia syndrome 2654 Syndesmodysplasic dwarfism 3349 Treft-Sanborn-Carey syndrome 3212 79446 156723 623 228407 1317 2355 3112 Autosomal dominant optic atrophy and congenital deafness Multiple pterygium syndrome, Aslan type Piepkorn dysplasia NAME syndrome Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome CAMFAK syndrome Kumar-Levick syndrome Patella aplasia - coxa vara - tarsal synostosis 151 → Use these ORPHA number ORPHA Disease to be used number Xp22.3 microdeletion syndrome Absence of 1658 fingerprints congenital milia 1643 1762 Trisomy Xq28 1855 Spondyloenchondrod ysplasia instead of the deprecated entities Deprecated ORPHA number Deprecated entities 2750 Orofaciodigital syndrome type 1 1235 Ectodermal dysplasia absent dermatoglyphs 2796 Pachydermoperiostos is 964 2909 Rothmund-Thomson syndrome 3333 2995 Baraitser-Winter syndrome 94084 3057 Monoamine oxidase A deficiency 3065 85281 50816 1896 EEC syndrome 1889 1896 EEC syndrome 2389 X-linked intellectual disability, Lubs type Spondylometaphyseal dysplasia with combined immunodeficiency Ectrodactyly - ectodermal dysplasia without clefting Ectrodactyly - cleft palate Lewis-Pashayan syndrome Ehlers-Danlos 2691 Scalp-ear-nipple 2036 syndrome 3391 2052 Fraser syndrome 2051 496 89833 1251 Matthew-Wood syndrome 91129 2510 Micro syndrome 2895 Microcephaly 2526 lymphedema 2609 2616 2637 2686 2697 2697 2712 chorioretinopathy Isolated NADH-CoQ reductase deficiency 3M syndrome Microcephalic osteodysplastic primordial dwarfism type II Cyclic neutropenia Arthrogryposis - renal dysfunction cholestasis Arthrogryposis - renal dysfunction cholestasis Oculofaciocardiodent al syndrome 1432 90649 3157 Septo-optic dysplasia 1102 3157 Septo-optic dysplasia 1678 3157 Septo-optic dysplasia 2245 3157 Septo-optic dysplasia 2243 3157 Septo-optic dysplasia 2244 3157 Septo-optic dysplasia 93943 Nevo syndrome kyphoscoliotic type 2470 Deprecated ORPHA number Ichthyosis - male hypogonadism 1888 Epidermolytic 2199 palmoplantar keratoderma Epidermolytic 2199 palmoplantar keratoderma Schilbach-Rott 2353 syndrome ORPHA Disease to be used number instead of the deprecated entities 431 1896 EEC syndrome 1900 syndrome, → Use these ORPHA number Odonto-onychohypohidrotic dysplasia midline scalp defects Fraser-like syndrome Thost-Unna palmoplantar keratoderma Palmoplantar keratoderma with tonotubular keratin Blepharofacioskeletal syndrome Anophthalmia - heart and pulmonary anomalies intellectual disability Pinsky-Di George-Harley syndrome Autosomal dominant chorioretinopathy microcephaly 936 Succinic acidemia 2661 Dwarfism - tall vertebrae 46658 Primordial short stature microdontia - opalescent and rootless teeth 2689 Intermittent neutropenia 1981 Fanconi syndrome ichthyosis - dysmorphism 3438 Biliary tract malformation - renal failure 3013 Radiculomegaly of canine teeth- congenital cataract Dehydrated 3202 hereditary stomatocytosis Zlotogora-Ogur 3253 syndrome 3447 Weaver syndrome Torg-Winchester 3460 syndrome 3464 Woodhouse-Sakati syndrome 3471 Young syndrome 33001 Lymphedema distichiasis Lymphedema distichiasis 33364 Trichothiodystrophy 33364 Trichothiodystrophy 33364 Trichothiodystrophy 33001 33364 Trichothiodystrophy Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 100039 90338 3446 2775 1011 1301 1683 Deprecated entities Orofaciodigital syndrome type 7 Acromegaly-cutis verticis gyrata-corneal leukoma syndrome Connective tissue dysplasia, Spellacy type Pachygyria - epilepsy intellectual disability dysmorphism X-linked intellectual disability - monoamine oxidase A metabolism anomaly Anophthalmia hypothalamo-pituitary insufficiency Dincsoy-Salih-Patel syndrome Hypopituitarism postaxial polydactyly Hypopituitarism micropenis - cleft lip/palate Hypopituitarism microphthalmia Corpus callosum dysgenesis hypopituitarism Familial pseudohyperkalemia type 1 Margarita island ectodermal dysplasia Weaver-like syndrome Autosomal recessive carpotarsal osteolysis Alopecia-hypogonadismextrapyramidal disorder syndrome Bronchiectasis oligospermia Distichiasis - congenital heart defects - peripheral vascular anomalies 2419 Lymphedema - ptosis 1245 670 453 BIDS syndrome PIBIDS syndrome IBIDS syndrome Onycho-tricho-dysplasia neutropenia 2739 152 → Use these ORPHA number ORPHA Disease to be used number instead of the deprecated entities Deprecated ORPHA number 33364 Trichothiodystrophy 3123 33364 Trichothiodystrophy 231256 33364 Trichothiodystrophy 33364 Trichothiodystrophy 75790 75789 35069 36899 42738 52368 52430 56304 60030 69061 79189 79259 79259 Infantile neuroaxonal dystrophy Myoclonus-dystonia syndrome Severe congenital neutropenia Mohr-Tranebjaerg syndrome Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Atelosteogenesis type II Loeys-Dietz syndrome Idiopathic steroidsensitive nephrotic syndrome Peroxisome biogenesis disorderZellweger syndrome spectrum Glycogen storage disease due to glucose-6phosphatase deficiency type b Glycogen storage disease due to glucose-6phosphatase deficiency type b 2174 Myoclonic dystonia 15 37629 Neonatal neutropenia 3213 Deafness - opticoacoustic nerve atrophy - dementia 54238 Myotonic dystrophy type 3 2640 Short limb-dwarf lethal, McAlister-Crane type 97295 Furlong syndrome 97552 Steroid-sensitive nephrotic syndrome without renal biopsy ORPHA Disease to be used number 34 79261 93284 93950 95699 97229 98769 98772 98784 98808 79260 79500 DOORS syndrome 1674 83628 PELVIS syndrome 2125 2687 90186 Meige disease 90185 90340 Blau syndrome 90341 Pipecolic acidemia Glycogen storage disease type 1D Glycogen storage disease type 1C Non hereditary congenital primary lymphedema Digitorenocerebral syndrome Sacral hemangiomas multiple congenital abnormalities Neutropenia hyperlymphocytosis with large granular lymphocytes Non-hereditary late-onset primary lymphedema Early-onset sarcoidosis instead of the deprecated entities Deprecated ORPHA number Familial thoracic 91387 aortic aneurysm and 98967 79450 T-cell large granular lymphocyte leukemia Brittle hair syndrome, Sabinas type Beta-thalassemia trichothiodystrophy Pollitt syndrome SIBIDS syndrome Hunter-CarpenterMcDonald syndrome 210566 79452 Milroy disease 86872 Deprecated entities → Use these ORPHA number aortic dissection Spondyloepiphyseal dysplasia tarda X-linked intellectual disability, SutherlandHaan type Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Riboflavin transporter deficiency Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 19/22 Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant dopa-responsive dystonia Schnyder corneal dystrophy 88636 163673 X-linked intellectual disability, Fichera type 63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis 56965 Progressive bulbar paralysis of childhood 98770 101107 Paroxysmal hypnogenic dyskinesia 101151 Dystonia 14 98968 168569 H syndrome 254712 168569 H syndrome 254707 182050 MYH9-related disease 850 182050 MYH9-related disease 182050 MYH9-related disease 182050 MYH9-related disease 1984 1019 807 157855 216989 Generalized 79407 epidermolysis bullosa 261483 Xq27.3q28 duplication syndrome Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf Spinocerebellar ataxia type 16 Spinocerebellar ataxia type 22 98812 254723 231568 dominant dystrophic Aortic dilatation - joint hypermobility - arterial tortuosity Spondyloepiphyseal dysplasia, Byers type 93944 168569 H syndrome Classic pantothenate 216866 kinase-associated neurodegeneration Generalized 231568 dominant dystrophic epidermolysis bullosa Deprecated entities 3423 Central discoid corneal dystrophy Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome Familial sinus histiocytosis with massive lymphadenopathy Faisalabad histiocytosis May-Hegglin thrombocytopenia Fechtner syndrome Epstein syndrome Sebastian syndrome HARP syndrome Autosomal dominant dystrophic epidermolysis bullosa, Pasini type Autosomal dominant dystrophic epidermolysis bullosa, CockayneTouraine type Vasquez-Hurst-Sotos syndrome 153 → Use these ORPHA number ORPHA Disease to be used number 263463 263463 264200 284963 289825 289825 293843 293843 293843 293864 300751 314632 CHST3-related skeletal dysplasia CHST3-related skeletal dysplasia 14q22q23 microdeletion syndrome Marfan syndrome type 1 Late-onset primary lymphedema Late-onset primary lymphedema Craniofacial-ulnarrenal syndrome Craniofacial-ulnarrenal syndrome Craniofacial-ulnarrenal syndrome Hypoplastic pancreasintestinal atresiahypoplastic gallbalder syndrome Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Parkinsonism due to ATP13A2 deficiency 319646 PGM-CDG instead of the deprecated entities Deprecated ORPHA number 1792 93280 2055 77242 Lymphedema tarda 77241 Lymphedema praecox 2453 Malpuech syndrome 2506 Michels syndrome 2998 Carnevale syndrome 137862 83618 3336 711 324737 SRD5A3-CDG 139477 Autosomal recessive severe congenital 331176 neutropenia due to G6PC3 deficiency Primary non-essential 357225 cutis verticis gyrata Spondyloepiphyseal dysplasia, Omani type Growth deficiency brachydactyly dysmorphism MASS syndrome 168972 C3 glomerulonephritis Humerospinal dysostosis 99715 324737 SRD5A3-CDG 329931 Deprecated entities 93559 178503 1557 357225 Primary non-essential cutis verticis gyrata 217315 357225 Primary non-essential cutis verticis gyrata 79482 Martínez-Frías syndrome Severe dilated cardiomyopathy due to lamin A/C mutation → Use these ORPHA number ORPHA Disease to be used number Combined cervical 370114 dystonia instead of the deprecated entities Deprecated ORPHA number 293838 Fatal infantile encephalopathypulmonary hypertension syndrome 52428 Congenital muscular dystrophy type 1C 98894 Congenital muscular dystrophy type 1D 217034 Male infertility with normal virilization due to meiosis defect 352613 Male infertility due to NANOS1 mutation Congenital muscular 370953 dystrophy due to dystroglycanopathy Congenital muscular 370953 dystrophy due to dystroglycanopathy Male infertility with azoospermia or 399805 oligozoospermia due to single gene mutation Male infertility with teratozoospermia 399808 due to single gene mutation Autosomal recessive 402041 distal renal tubular acidosis Autosomal recessive 402041 distal renal tubular acidosis Deprecated entities 93609 93611 Autosomal recessive distal renal tubular acidosis without deafness Autosomal recessive distal renal tubular acidosis with deafness Tomé-Brunet-Fardeau syndrome Glycogen storage disease due to phosphoglucomutase deficiency Kahrizi syndrome Al-Gazali-Dattani syndrome C3 deposition glomerulonephritis without proliferation Dursun syndrome Cutis verticis gyrata intellectual disability Cutis verticis gyrata retinitis pigmentosa sensorineural deafness Cutis verticis gyrata thyroid aplasia intellectual disability Orphanet Report Series - List of rare diseases and synonyms listed in alphabetical order - May 2015 http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf 154 For any questions or comments, please contact us: [email protected] Editor-in-chief :Ana Rath – Editor: Annie Olry Technical support: Samuel Demarest, Valérie Lanneau - Photography: Alliance Maladies Rares / Karine Lhémon The correct form when quoting this document is : « List of rare diseases and synonyms listed in alphabetical order », Orphanet Report Series, Rare Diseases collection, May 2015, http://www.orpha.net/orphacom/cahiers/docs/GB/List_of_rare_diseases_in_alphabetical_order.pdf
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