Orphanet Report Series

Transcription

1 Marche des Maladies Rares Alliance Maladies Rares Orphanet Report Series Rare Diseases collection December December List of rare diseases Listed in alphabetical order

2 Rare diseases listed in alphabetical order p21.3 microdeletion q21.1 microdeletion q21.1 microduplication q41q42 microdeletion q44 microdeletion 976 2,8 dihydroxyadenine urolithiasis aminoadipic aciduria 19 2-hydroxyglutaric aciduria methylbutyryl-CoA dehydrogenase p15p16.1 microdeletion p21 microdeletion q23.1 microdeletion q24 microdeletion q31.1 microdeletion q31.1 microduplication q32q33 microdeletion q33.1 microdeletion q37 microdeletion 7 3C hydroxy 3-methylglutaryl-CoA synthase 20 3-hydroxy-3-methylglutaric aciduria hydroxyisobutyric aciduria M methylglutaconic aciduria methylglutaconic aciduria methylglutaconic aciduria Phosphoglycerate dehydrogenase Phosphoserine phosphatase q13 microdeletion q26 microduplication q29 microdeletion q29 microduplication 22 4-hydroxybutyricaciduria q21 microdeletion fluorouracil overdose oxoprolinase q14.3 microdeletion q35 microduplication p22 microdeletion phosphogluconate dehydrogenase 13 6-pyruvoyl-tetrahydropterin synthase q terminal deletion q25 microdeletion q11.23 microduplication q31 microdeletion p inverted duplication/deletion p11.2 deletion p23.1 microdeletion p23.1 microduplication q12 microduplication q13 microdeletion q21.11 microdeletion q22.1 microdeletion p11.21p12.31 microdeletion q22.3q23.3 microdeletion q22.3q23.3 microduplication p15.4 microduplication q14 microdeletion q15q21.1 microdeletion q11.2 microdeletion q11.2 microduplication q12 microdeletion q22q23 microdeletion q11.2 microdeletion q11q13 microduplication q13.3 microdeletion q14 microdeletion q24 microdeletion p11.2 microdeletion p11.2 microduplication p11.2p12.2 microdeletion p13.11 microdeletion p13.11 microduplication q24.3 microdeletion p11.2 microduplication p13.3 microduplication q11 microdeletion q11.2 microduplication q12 microdeletion q12 microduplication q21.31 microdeletion q21.31 microduplication q23.1q23.2 microdeletion p13.12 microdeletion q13.11 microdeletion p12.3 microdeletion q13.33 microdeletion q22.11q22.12 microdeletion q22.13q22.2 microdeletion q11.2 microduplication ,X/46,XY mixed gonadal dysgenesis ,XX androgen-induced disorder of sex development due to maternal Krukenberg's tumor ,XX androgen-induced disorder of sex development due to maternal adrenal hyperplasia ,XX androgen-induced disorder of sex development due to maternal adrenal tumor ,XX androgen-induced disorder of sex development due to maternal androluteoma ,XX androgen-induced disorder of sex development due to maternal arrhenoblastoma ,XX disorder of sex development - anorectal anomalies ,XX disorder of sex development - skeletal anomalies ,XX disorder of sex development due to synthetic oral progestagen or diethylstilbestrol ,XX disorder of sex development due to testosterone or related steroids ,XX gonadal dysgenesis ,XX iatrogenic androgen-induced disorder of sex development of maternal origin ,XX testicular disorder of sex development ,XY complete gonadal dysgenesis ,XY disorder of sex development - adrenal insufficiency ,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase ,XY disorder of sex development due to 5-alpha-reductase ,XY disorder of sex development due to isolated 17, 20 lyase Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

3 ,XY gonadal dysgenesis - motor and sensory neuropathy ,XY partial gonadal dysgenesis 8 47,XYY ,XXXY 10 48,XXYY ,XYYY ,XXXXY ,XXXYY ,XYYYY 915 Aarskog-Scott 916 Aase-Smith 918 ABCD 14 Abetalipoproteinemia 920 Ablepharon macrostomia Abnormal number of coronary ostia 1138 Abnormal origin of the pulmonary artery Abnormal origin or aberrant course of coronary artery 921 Abruzzo-Erickson 2310 Absence deformity of leg - cataract Absence of innominate vein Absence of dermal ridge patternsonychodystrophy - palmoplantar anhidrosis 1658 Absence of fingerprints - congenital milia Absence of lateral incisors 980 Absence of the pulmonary artery 2951 Absent thumb - short stature - immuno 988 Absent tibia - polydactyly 3328 Absent tibia - polydactyly - arachnoid cyst 945 Acalvaria Acanthamoeba keratitis Acanthokeratolytic verrucous nevus 924 Acanthosis nigricans Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement 926 Acatalasemia Accessory mitral valve tissue 674 Accessory pancreas Accessory tricuspid valve tissue Aceruloplasminemia Acetazolamide-responsive myotonia 929 Achalasia - microcephaly Acheiria Acheiria, bilateral Acheiria, unilateral 931 Acheiropodia 932 Achondrogenesis Achondrogenesis 1A Achondrogenesis 1B Achondrogenesis 2 15 Achondroplasia 935 Achondroplasia - severe combined immuno Achromatopsia Acid phosphatase Acitretin embryofetopathy 2561 Ackerman Aconitase Acquired angioedema Acquired angioedema Acquired angioedema Acquired cutis laxa Acquired epidermolysis bullosa Acquired generalized lipodystrophy Acquired hemophilia 2221 Acquired hypertrichosis lanuginosa 454 Acquired ichthyosis Acquired idiopathic sideroblastic anemia Acquired kinky hair Acquired metabolic neuropathy Acquired prothrombin Acquired pseudoxanthoma elasticum Acquired secondary polycythemia Acquired thrombotic thrombocytopenic purpura Acquired Von Willebrand Acral dystrophic epidermolysis bullosa Acral persistent papular mucinosis Acral self-healing collodion baby 36 Acrocallosal Acrocapitofemoral dysplasia 2008 Acro-cardio-facial Acrocephalopolydactyly 949 Acrocraniofacial dysostosis Acrodermatitis continua suppurativa of Hallopeau 37 Acrodermatitis enteropathica, zinc 950 Acrodysostosis Acrodysostosis with multiple hormone resistance 1786 Acrofacial dysostosis, Catania 245 Acrofacial dysostosis, Nager 1787 Acrofacial dysostosis, Palagonia 1788 Acrofacial dysostosis, Rodriguez 952 Acrofacial dysostosis, Weyers 1784 Acro-fronto-facio-nasal dysostosis 2500 Acrogeria 38 Acrokeratoelastoidosis of Costa Acrokeratosis verruciformis of Hopf 965 Acromegaloid facial appearance 966 Acromegaloid facies - hypertrichosis 963 Acromegaly 964 Acromegaly - cutis verticis gyrata - corneal leukoma 39 Acromelanosis 1827 Acromelic frontonasal dysplasia 953 Acromesomelic dysplasia, Brahimi-Bacha 2098 Acromesomelic dysplasia, Grebe 968 Acromesomelic dysplasia, Hunter-Thomson 40 Acromesomelic dysplasia, Maroteaux 969 Acromicric dysplasia 955 Acroosteolysis dominant 2980 Acro-oto-ocular Acro-pectoral 956 Acro-pectoro-renal dysplasia 957 Acropectorovertebral dysplasia 41 Acropigmentation of Dohi 971 Acrorenal 958 Acro-renal-mandibular 959 Acro-renal-ocular ACTH-independent macronodular adrenal hyperplasia Actinic lichen planus Action myoclonus - renal failure Acute ackee fruit intoxication Acute adrenal insufficiency Acute annular outer retinopathy Acute basophilic leukemia Acute bilateral depigmentation of the iris Acute biphenotypic leukemia Acute disseminated encephalitis 318 Acute erythroid leukemia Acute fatty liver of pregnancy Acute generalized exanthematous pustulosis Acute graft versus host disease Acute hepatic porphyria Acute infantile liver failure due to mtdnaencoded proteins synthesis defect Acute inflammatory demyelinating polyradiculoneuropathy Acute intermittent porphyria Acute interstitial pneumonia Acute leukemia of ambiguous lineage Acute liver failure Acute lung injury 513 Acute lymphoblastic leukemia 518 Acute megacaryoblastic leukemia 514 Acute monoblastic leukemia Acute motor axonal neuropathy Acute motor-sensory axonal neuropathy Acute myeloblastic leukemia with maturation Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

4 98833 Acute myeloblastic leukemia without maturation 519 Acute myeloid leukemia Acute myeloid leukemia and myelodysplastic s related to alkylating agent Acute myeloid leukemia and myelodysplastic s related to radiation Acute myeloid leukemia and myelodysplastic s related to topoisomerase 2 inhibitor Acute myeloid leukemia in Down 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 multilineage dysplasia Acute myeloid leukemia with t(8;21) (q22;q22) translocation 517 Acute myelomonocytic leukemia Acute necrotizing encephalopathy of childhood Acute neonatal citrullinemia I Acute opioid poisoning Acute pandysautonomia Acute panmyelosis with myelofibrosis Acute peripheral arterial occlusion Acute poisoning by drugs with membranestabilizing effect 520 Acute promyelocytic leukemia Acute pure sensory neuropathy Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma Acute sensory ataxic neuropathy Acute transverse myelitis Acute tricyclic antidepressant poisoning Acute undifferentiated leukemia Acute zonal occult outer retinopathy Acyl-CoA dehydrogenase Adactyly of foot, bilateral Adactyly of foot, unilateral Adamantinoma 974 Adams-Oliver Addison disease 2952 Adducted thumbs - arthrogryposis, Christian 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 Adenosarcoma of the cervix uteri Adenosarcoma of the corpus uteri 45 Adenosine monophosphate deaminase Adenovirus infection in immunocompromised patients 46 Adenylosuccinate lyase Adiposis dolorosa 1544 Adolescent benign focal crisis 3153 Adolescent idiopathic scoliosis 463 Adrenal incidentaloma Adrenocortical adenoma 1501 Adrenocortical carcinoma Adrenocortical carcinoma with pure aldosterone hypersecretion Adrenomyeloneuropathy 977 Adrenomyodystrophy 2688 Adult idiopathic neutropenia Adult acute respiratory distress Adult chronic recurrent multifocal osteomyelitis 2666 Adult familial nephronophtisis - spastic quadriparesia Adult glycerol kinase 874 Adult heart tumor Adult hepatocellular carcinoma Adult hypophosphatasia Adult intestinal botulism Adult Krabbe disease Adult neuronal ceroid lipofuscinosis Adult onset nemaline myopathy Adult polyglucosan body disease Adult pulmonary Langerhans cell histiocytosis Adult pure red cell aplasia 829 Adult Still's disease 978 ADULT Adult T-cell leukemia/lymphoma Adult-onset autosomal dominant leukodystrophy Adult-onset autosomal recessive cerebellar ataxia Adult-onset citrullinemia I Adult-onset foveomacular vitelliform dystrophy Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia Adult-onset proximal spinal muscular atrophy, autosomal dominant African iron overload African tick typhus 3385 African trypanosomiasis Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis Agenesis and aplasia of uterine body Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia Agenesis of the superior vena cava Aggressive NK-cell leukemia Aggressive systemic mastocytosis 990 Agnathia - holoprosencephaly - situs inversus 50 Aicardi 51 Aicardi-Goutieres AICA-ribosiduria AIDS wasting 52 Alagille Alagille due to 20p12 microdeletion Alagille due to a JAG1 point mutation Alagille due to a NOTCH2 point mutation Åland Island eye disease 2007 Alar cartilages hypoplasia - coloboma - telecanthus 53 Albers-Schönberg osteopetrosis 998 Albinism-deafness 665 Albright hereditary osteodystrophy ALDH18A1-related DeBarsy 57 Aldolase A Aleukemic mast cell leukemia 58 Alexander disease Al-Gazali-Dattani 56 Alkaptonuria ALK-negative anaplastic large cell lymphoma ALK-positive anaplastic large cell lymphoma 59 Allan-Herndon-Dudley 1164 Allergic bronchopulmonary aspergillosis Alobar holoprosencephaly 1005 Alopecia - contractures - dwarfism - intellectual deficit 1008 Alopecia - epilepsy - pyorrhea - intellectual deficit 1011 Alopecia - hypogonadism - extrapyramidal disorder 1014 Alopecia - intellectual deficit - hypergonadotropic hypogonadism Alopecia - onychodysplasia - hypohidrosis - deafness Alopecia - skin atrophy - anonychia - tongue defect 1006 Alopecia antibody 700 Alopecia totalis 701 Alopecia universalis 2850 Alopecia-intellectual deficit 726 Alpers 734 Alpha delta granule Alpha heavy-chain disease Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

5 98791 Alpha thalassemia - intellectual deficit 847 Alpha thalassemia - X-linked intellectual deficit 60 Alpha-1 antitrypsin Alpha-1-antichymotrypsin Alpha-crystallinopathy 61 Alpha-mannosidosis 3137 Alpha-N-acetylgalactosaminidase Alpha-N-acetylgalactosaminidase Alpha-N-acetylgalactosaminidase Alpha-N-acetylgalactosaminidase Alpha-thalassemia Alpha-thalassemia - myelodysplastic 63 Alport Alport - intellectual deficit - midface hypoplasia - elliptocytosis 64 Alström 2131 Alternating hemiplegia of childhood 284 Alveolar echinococcosis Alveolar rhabdomyosarcoma Alveolar soft-part sarcoma Alveolar synechia - ankyloblepharon - ectodermal dysplasia 1021 Amaurosis - hypertrichosis 1023 Ambras 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 1946 Amelo-cerebro-hypohidrotic Amelogenesis imperfecta 1031 Amelogenesis imperfecta - nephrocalcinosis Amelogenesis imperfecta and gingival hyperplasia 1028 Amelo-onycho-hypohidrotic 3386 American trypanosomiasis 1908 Aminopterin/methotrexate embryofetopathy Amish infantile epilepsy Amish lethal microcephaly Amish nemaline myopathy 1034 Amniotic bands 67 Amoebiasis due to Entamoeba histolytica 68 Amoebiasis due to free-living amoebae 803 Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis-parkinsonismdementia complex Anal endocrine tumor Anal fistula Anaplastic astrocytoma Anaplastic ependymoma Anaplastic ganglioglioma Anaplastic large cell lymphoma Anaplastic oligoastrocytoma Anaplastic oligodendroglioma 142 Anaplastic thyroid carcinoma Anaplastic/large cell medulloblastoma Anauxetic dysplasia 754 Androgen insensitivity ANE 1044 Anemia due to adenosine triphosphatase Aneurysm - osteoarthritis 1054 Aneurysm of sinus of Valsalva Aneurysm or dilation of ascending aorta Aneurysmal subarachnoid hemorrhage 72 Angelman Angelman due to maternal 15q11q13 deletion Angelman due to paternal uniparental disomy of chromosome Angel-shaped phalango-epiphyseal dysplasia Angiocentric glioma Angioimmunoblastic T-cell lymphoma 2346 Angio-osteohypertrophic Angio-osteohypotrophic Angiosarcoma 74 Angiostrongyliasis Anhidrotic ectodermal dysplasia - immuno - osteopetrosis - lymphedema 77 Aniridia 1069 Aniridia - absent patella 1065 Aniridia - cerebellar ataxia - intellectual deficit 1067 Aniridia - ptosis - intellectual deficit - familial obesity 1064 Aniridia - renal agenesis - psychomotor retardation 1068 Aniridia-intellectual deficit 1070 Anisakiasis 1071 Ankyloblepharon - ectodermal defects - cleft lip/palate 1074 Ankyloblepharon filiforme - imperforate anus 1072 Ankyloblepharon filiforme adnatum - cleft palate 2206 Ankylosing vertebral hyperostosis with tylosis 78 Ankylostomiasis Annular atrophic lichen planus Annular epidermolytic ichthyosis Annular lichen planus 675 Annular pancreas Anodontia Anomalous dysplasia of dentin Anomaly of the mitral subvalvular apparatus Anomaly of the tricuspid subvalvular apparatus Anomaly of the tricuspid valve chordae 1094 Anonychia - microcephaly Anonychia - onychodystrophy Anonychia congenita totalis Anonychia with flexural pigmentation Anophthalmia - esophageal-genital 1101 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies 1104 Anophthalmia plus Anophthalmia/microphthalmia - esophageal atresia Anotia 2987 Antecubital pterygium Antenatal Bartter Antenatal multiminicore disease with congenital arthrogryposis multiplex Anterior polar cataract Anthracycline extravasations 2194 Anti-HLA hyperimmunization 81 Antisynthetase 83 Antley-Bixler Antley-Bixler with genital anomaly and disorder of steroidogenesis Antley-Bixler without genital anomaly or disorder of steroidogenesis 1457 Aorta coarctation 2037 Aorta-pulmonary artery fistula 1110 Aortic arch anomaly - peculiar facies - intellectual deficit 1132 Aortic arch defects 2299 Aortic arch interruption Aortic dilatation - joint hypermobility - arterial tortuosity Aortic valve atresia Aortic valve dysplasia Aorto-left ventricular tunnel Aorto-pulmonary coronary arterial course Aorto-right ventricular tunnel 3400 Aorto-ventricular tunnel APC-related attenuated familial adenomatous polyposis 87 Apert 1112 Aphalangy - hemivertebrae - urogenitalintestinal dysgenesis 1113 Aphalangy - syndactyly - microcephaly 1117 Aplasia cutis - myopia Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

6 1116 Aplasia cutis congenita - intestinal lymphangiectasia Aplasia of lacrimal and salivary glands Apnea of prematurity Apodia Apodia, bilateral Apodia, unilateral 425 Apolipoprotein A-I 320 Apparent mineralocorticoid excess Appendix endocrine tumor 1126 Aprosencephaly cerebellar dysgenesis 1129 Arachnodactyly - abnormal ossification - intellectual deficit 1130 Arachnodactyly - intellectual deficit - dysmorphism 2356 Arachnoid cyst Arachnoiditis 344 Arbovirus fever 1133 AREDYLD Aregenerative anemia Arginine:glycine amidinotransferase 90 Argininemia 23 Argininosuccinic aciduria Argyria Argyrophilic grain disease Arnold-Chiari malformation I 1136 Arnold-Chiari malformation II 91 Aromatase Aromatase excess Aromatic L-aminoacid decarboxylase 1134 Arrhinia 1135 Arrhinia - choanal atresia - microphthalmia 247 Arrhythmogenic right ventricular dysplasia 1682 Arterial dissection - lentiginosis Arterial hypertension due to renal artery stenosis secondary to vasculitis 3342 Arterial tortuosity 1139 Arthrogryposis - epileptic seizures - migrational brain disorder 1485 Arthrogryposis - hyperkeratosis, lethal form 1154 Arthrogryposis - ophthalmoplegia - retinopathy 2697 Arthrogryposis - renal dysfunction - cholestasis Arthrogryposis - severe scoliosis 1157 Arthrogryposis - spondylohypoplasia - popliteal pterygium 1155 Arthrogryposis due to muscular dystrophy 1037 Arthrogryposis multiplex congenita 1152 Arthrogryposis multiplex congenita - lissencephaly 1150 Arthrogryposis multiplex congenita - whistling face 1144 Arthrogryposis-like hand anomaly - sensorineural deafness 1149 Arthrogryposis-like 2302 Asbestos intoxication 1253 Ascher Aseptic osteitis Asherman's 93 Aspartylglucosaminuria 1163 Aspergillosis Astley-Kendall dysplasia Astroblastoma 94 Astrocytoma 1166 Asymmetric crying facies 1180 Ataxia - hypogonadism - choroidal dystrophy 1168 Ataxia - oculomotor apraxia Ataxia - pancytopenia 1184 Ataxia - photosensitivity - short stature 1178 Ataxia - tapetoretinal degeneration 1179 Ataxia - tonic upward deviation of eyes 1188 Ataxia-deafness-retardation 100 Ataxia-telangiectasia Ataxia-telangiectasia-like disorder 1190 Atelosteogenesis I Atelosteogenesis II Atelosteogenesis III Athabaskan brainstem dysgenesis 1192 Atherosclerosis- deafness - diabetes - epilepsy - nephropathy Athyreosis 1193 Atkin-Flaitz Atlantoaxial subluxation Atopic keratoconjunctivitis 1195 Atransferrinemia 1201 Atresia of small intestine 105 Atresia of urethra 1344 Atrial cardiomyopathy with heart block 1479 Atrial septal defect - atrioventricular conduction defects Atrial septal defect, coronary sinus Atrial septal defect, ostium primum Atrial septal defect, ostium secundum Atrial septal defect, sinus venosus Atrial septum aneurysm 844 Atrial tachyarrhythmia with short PR interval 1211 Atrichia - mental and growth delay Atrichia with papular lesions 1352 Atrioventricular defect - blepharophimosis -radial defects Atrophic lichen planus Atrophoderma vermiculata Attenuated familial adenomatous polyposis Atypical arterial duct Atypical autism Atypical chronic myeloid leukemia 1456 Atypical coarctation of aorta Atypical glycine encephalopathy 2134 Atypical hemolytic uremic Atypical hemolytic uremic with antibody anti-factor H Atypical hemolytic uremic with B factor anomaly Atypical hemolytic uremic with C3 anomaly Atypical hemolytic uremic with H factor anomaly Atypical hemolytic uremic with I factor anomaly Atypical hemolytic uremic with MCP/CD46 anomaly Atypical hemolytic uremic with thrombomodulin anomaly Atypical hypotonia - cystinuria Atypical lichen myxedematosus Atypical Mayer-Rokitansky-Küster-Hauser Atypical Norrie disease due to monosomy Xp Atypical pantothenate kinase associated neurodegeneration Atypical papilloma of choroid plexus Atypical progressive supranuclear palsy 3095 Atypical Rett Atypical teratoid tumor Atypical teratoid/rhabdoid tumor Atypical Werner Audiogenic seizures Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Auriculo-condylar Auriculoocular anomalies - cleft lip 114 Auriculoosteodysplasia 1219 Aurocephalosyndactyly Autism - facial port-wine stain Autoimmune enteropathy Autoimmune enteropathy Autoimmune hemolytic anemia, warm Autoimmune hypoparathyroidism 3261 Autoimmune lymphoproliferative Autoimmune lymphoproliferative with recurrent infections Autoimmune necrotizing myopathy Autoimmune pancreatitis Autoimmune pancreatitis 1 Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

7 Autoimmune pancreatitis Autoimmune polyendocrinopathy Autoimmune polyendocrinopathy Autoimmune polyendocrinopathy Autoimmune polyendocrinopathy Autoimmune thrombocytopenia Autosomal agammaglobulinemia Autosomal codominant severe lipodystrophic laminopathy Autosomal dominant Alport Autosomal dominant centronuclear myopathy Autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia Autosomal dominant Charcot-Marie-Tooth disease Autosomal dominant Charcot-Marie-Tooth disease 2A Autosomal dominant Charcot-Marie-Tooth disease 2A Autosomal dominant Charcot-Marie-Tooth disease 2B Autosomal dominant Charcot-Marie-Tooth disease 2C Autosomal dominant Charcot-Marie-Tooth disease 2D Autosomal dominant Charcot-Marie-Tooth disease 2E Autosomal dominant Charcot-Marie-Tooth disease 2F Autosomal dominant Charcot-Marie-Tooth disease 2G Autosomal dominant Charcot-Marie-Tooth disease 2I Autosomal dominant Charcot-Marie-Tooth disease 2J Autosomal dominant Charcot-Marie-Tooth disease 2K Autosomal dominant Charcot-Marie-Tooth disease 2L Autosomal dominant Charcot-Marie-Tooth disease 2M Autosomal dominant Charcot-Marie-Tooth disease 2N Autosomal dominant Charcot-Marie-Tooth disease 2O Autosomal dominant Charcot-Marie-Tooth disease 2P 1455 Autosomal dominant coarctation of aorta 1216 Autosomal dominant congenital benign spinal muscular atrophy Autosomal dominant cutis laxa 2337 Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten Autosomal dominant dopa-responsive dystonia Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne- Touraine s Autosomal dominant dystrophic epidermolysis bullosa, Pasini Autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures Autosomal dominant focal dystonia, DYT Autosomal dominant gingival fibromatosis 2314 Autosomal dominant hyper IgE Autosomal dominant hyperinsulinism due to Kir Autosomal dominant hyperinsulinism due to SUR1 428 Autosomal dominant hypocalcemia Autosomal dominant hypodontia 1810 Autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant hypophosphatemic rickets Autosomal dominant intermediate Charcot- Marie-Tooth disease Autosomal dominant intermediate Charcot- Marie-Tooth disease A Autosomal dominant intermediate Charcot- Marie-Tooth disease B Autosomal dominant intermediate Charcot- Marie-Tooth disease C Autosomal dominant intermediate Charcot- Marie-Tooth disease D Autosomal dominant Kenny-Caffey 2334 Autosomal dominant keratitis 503 Autosomal dominant Larsen Autosomal dominant lateral temporal lobe epilepsy 266 Autosomal dominant limb-girdle muscular dystrophy 1A 264 Autosomal dominant limb-girdle muscular dystrophy 1B 265 Autosomal dominant limb-girdle muscular dystrophy 1C Autosomal dominant limb-girdle muscular dystrophy 1D Autosomal dominant limb-girdle muscular dystrophy 1E Autosomal dominant limb-girdle muscular dystrophy 1F Autosomal dominant limb-girdle muscular dystrophy 1G Autosomal dominant limb-girdle muscular dystrophy 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 2514 Autosomal dominant microcephaly Autosomal dominant multiple pterygium Autosomal dominant myoglobinuria Autosomal dominant nail dysplasia Autosomal dominant nonsyndromic intellectual deficit Autosomal dominant nonsyndromic sensorineural deafness DFNA Autosomal dominant omodysplasia Autosomal dominant optic atrophy and cataract 3212 Autosomal dominant optic atrophy and congenital deafness Autosomal dominant optic atrophy and lateonset deafness Autosomal dominant optic atrophy and peripheral neuropathy 1215 Autosomal dominant optic atrophy plus Autosomal dominant optic atrophy, classic 2783 Autosomal dominant osteopetrosis Autosomal dominant osteosclerosis, Worth 1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant polycystic kidney disease 1 with tuberous sclerosis 1300 Autosomal dominant popliteal pterygium 2964 Autosomal dominant prognathism Autosomal dominant progressive external ophthalmoplegia Autosomal dominant progressive nephropathy with hypertension Autosomal dominant renal tubular acidosis Autosomal dominant rhegmatogenous retinal detachment 3107 Autosomal dominant Robinow Autosomal dominant secondary polycythemia 486 Autosomal dominant severe congenital neutropenia Autosomal dominant slowed nerve conduction velocity Autosomal dominant spastic ataxia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia 13 Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

8 Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spastic paraplegia Autosomal dominant spondylocostal dysostosis Autosomal dominant striatal neurodegeneration 3086 Autosomal dominant vitreoretinochoroidopathy Autosomal recessive acrofacial dysostosis Autosomal recessive Alport 1027 Autosomal recessive amelia Autosomal recessive ataxia due to PEX Autosomal recessive ataxia due to ubiquinone Autosomal recessive ataxia, Beauce Autosomal recessive axonal Charcot-Marie- Tooth disease Autosomal recessive centronuclear myopathy Autosomal recessive cerebellar ataxia - blindness - deafness Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit Autosomal recessive cerebellar ataxia - psychomotor retardation Autosomal recessive cerebellar ataxia - saccadic intrusion 1170 Autosomal recessive cerebelloparenchymal disorder Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier 2518 Autosomal recessive chorioretinopathy - microcephaly Autosomal recessive complex spastic paraplegia Autosomal recessive congenital sideroblastic anemia Autosomal recessive cutis laxa Autosomal recessive cutis laxa Autosomal recessive distal osteolysis Autosomal recessive dopa-responsive dystonia Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens Autosomal recessive dystrophic epidermolysis bullosa, non-hallopeau-siemens Autosomal recessive early-onset inflammatory bowel disease Autosomal recessive Emery-Dreifuss muscular dystrophy Autosomal recessive epidermolysis bullosa simplex 1974 Autosomal recessive facio-digito-genital Autosomal recessive hyper IgE Autosomal recessive hyperinsulinism due to Kir Autosomal recessive hyperinsulinism due to SUR Autosomal recessive hypodontia 248 Autosomal recessive hypohidrotic ectodermal dysplasia Autosomal recessive hypophosphatemic rickets Autosomal recessive infantile hypercalcemia Autosomal recessive intermediate Charcot- Marie-Tooth disease A Autosomal recessive intermediate Charcot- Marie-Tooth disease B Autosomal recessive Kenny-Caffey 267 Autosomal recessive limb girdle muscular dystrophy 2A Autosomal recessive limb-girdle muscular dystrophy - dystroglycanopathy C Autosomal recessive limb-girdle muscular dystrophy due to plectin 268 Autosomal recessive limb-girdle muscular dystrophy 2B 353 Autosomal recessive limb-girdle muscular dystrophy 2C 62 Autosomal recessive limb-girdle muscular dystrophy 2D 119 Autosomal recessive limb-girdle muscular dystrophy 2E 219 Autosomal recessive limb-girdle muscular dystrophy 2F Autosomal recessive limb-girdle muscular dystrophy 2G 1878 Autosomal recessive limb-girdle muscular dystrophy 2H Autosomal recessive limb-girdle muscular dystrophy 2I Autosomal recessive limb-girdle muscular dystrophy 2J Autosomal recessive limb-girdle muscular dystrophy 2K Autosomal recessive limb-girdle muscular dystrophy 2L Autosomal recessive limb-girdle muscular dystrophy 2M Autosomal recessive limb-girdle muscular dystrophy 2N Autosomal recessive limb-girdle muscular dystrophy 2O Autosomal recessive lower motor neuron disease with childhood onset Autosomal recessive lymphoproliferative disease 667 Autosomal recessive malignant osteopetrosis 655 Autosomal recessive medullary cystic kidney disease 2990 Autosomal recessive multiple pterygium Autosomal recessive nail dysplasia Autosomal recessive nonsyndromic intellectual deficit Autosomal recessive nonsyndromic sensorineural deafness DFNB Autosomal recessive omodysplasia Autosomal recessive optic atrophy, OPA Autosomal recessive optic atrophy, OPA Autosomal recessive palmoplantar keratoderma and congenital alopecia 731 Autosomal recessive polycystic kidney disease 2512 Autosomal recessive primary microcephaly Autosomal recessive progressive external ophthalmoplegia Autosomal recessive pure spastic paraplegia Autosomal recessive pyridoxine-refractory sideroblastic anemia Autosomal recessive renal tubular acidosis 1507 Autosomal recessive Robinow Autosomal recessive secondary polycythemia not associated with VHL gene Autosomal recessive spastic ataxia - optic atrophy - dysarthria Autosomal recessive spastic paraplegia 5A Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia 20 Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

9 Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spastic paraplegia Autosomal recessive spondylocostal dysostosis Autosomal recessive Stickler Autosomal recessive systemic lupus erythematosus Autosomal thrombocytopenia with normal platelets 1220 Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities 782 Axenfeld-Rieger Axenfeld's anomaly 1834 Axial mesodermal dysplasia spectrum Axial spondylometaphyseal dysplasia Axonal Charcot-Marie-Tooth disease with acrodystrophy Axonal polyneuropathy associated with IgG/ IgM/IgA monoclonal gammopathy Azygos continuation of the inferior vena cava 108 Babesiosis Bacterial toxic-shock 1223 Balantidiasis Ballard 1225 Baller-Gerold Balò concentric sclerosis 1226 Bamforth 1227 Bangstad 1228 Banki 109 Bannayan-Riley-Ruvalcaba BAP1-related tumor predisposition 1231 Barber-Say 110 Bardet-Biedl 111 Barth 1234 Bartsocas-Papas 112 Bartter Bartter with hypocalcemia Basal encephalocele Bathing suit ichthyosis Bazex 113 Bazex-Dupré-Christol B-cell prolymphocytic leukemia Becker muscular dystrophy Becker nevus 116 Beckwith-Wiedemann Beckwith-Wiedemann due to 11p15 microdeletion Beckwith-Wiedemann due to 11p15 microduplication Beckwith-Wiedemann due to 11p15 translocation/inversion Beckwith-Wiedemann due to CDKN1C mutation Beckwith-Wiedemann due to imprinting defect of 11p Beckwith-Wiedemann due to NSD1 mutation Beckwith-Wiedemann due to paternal uniparental disomy of chromosome Beemer-Ertbruggen Behavioural variant of frontotemporal dementia 117 Behcet disease 1239 Behr 1241 Bencze Benign adult familial myoclonic epilepsy Benign adult familial myoclonic epilepsy Benign adult familial myoclonic epilepsy Benign adult familial myoclonic epilepsy Benign cephalic histiocytosis Benign childhood occipital epilepsy, Gastaut Benign childhood occipital epilepsy, Panayiotopoulos Benign concentric annular macular dystrophy Benign essential blepharospasm Benign exophthalmos 1429 Benign familial chorea 1945 Benign familial epilepsy of childhood with rolandic spikes Benign familial hypobetalipoproteinemia 306 Benign familial infantile seizures Benign familial mesial temporal lobe epilepsy 1949 Benign familial neonatal seizures Benign familial neonatal-infantile seizures Benign familial nocturnal alternating hemiplegia of childhood Benign idiopathic neonatal seizures Benign infantile focal epilepsy with midline spikes and wave during sleep Benign infantile seizures associated to mild gastroenteritis Benign non-familial infantile seizures Benign occipital epilepsy Benign paroxysmal torticollis of infancy Benign partial epilepsy of infancy with complex partial seizures Benign partial epilepsy with secondarily generalized seizures in infancy Benign partial infantile seizures Benign peripheral nerve sheath tumor Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis Benign schwannoma Benign tumor of fallopian tube 528 Berardinelli-Seip congenital lipodystrophy 274 Bernard-Soulier 1243 Best disease Beta2-microglobulinic amyloidosis Beta-enolase 118 Beta-mannosidosis 848 Beta-thalassemia Beta-thalassemia - trichothiodystrophy Beta-thalassemia - X-linked thrombocytopenia Beta-thalassemia associated with another hemoglobin anomaly Beta-thalassemia intermedia Beta-thalassemia major Beta-thalassemia with other manifestations Beta-ureidopropionase 610 Bethlem myopathy Bicervical bicornuate uterus and blind hemivagina Bicervical bicornuate uterus with patent cervix and vagina 2088 Bickel-Fanconi glycogenosis Bickerstaff's brainstem encephalitis 1245 BIDS Biemon Bietti crystalline dystrophy 2695 Bifid nose Bifid uvula 300 Bifunctional enzyme 983 Bilateral anorchia Bilateral choanal atresia Bilateral frontal polymicrogyria Bilateral frontoparietal polymicrogyria Bilateral generalized polymicrogyria Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

10 Bilateral microtia - deafness - cleft palate Bilateral multicystic renal dysplasia Bilateral parasagittal parieto-occipital polymicrogyria Bilateral perisylvian polymicrogyria Bilateral polymicrogyria 1848 Bilateral renal agenesis Bilateral renal dysplasia Bilateral renal hypoplasia 1980 Bilateral striopallidodentate calcinosis Bile acid CoA ligase and defective amidation Biliary atresia Biliary atresia with splenic malformation 3438 Biliary tract malformation - renal failure Bilineal acute leukemia 1249 Binswanger disease Biotinidase Biotin-responsive basal ganglia disease 2617 Bird headed-dwarfism, Montreal 122 Birt-Hogg-Dube 123 Björnstad 124 Blackfan-Diamond disease Bladder exstrophy 1250 Blaichman Blake's pouch cyst Blastic NK-cell lymphoma Blau Bleeding diathesis due to a collagen receptor defect Bleeding diathesis due to glycoprotein VI Bleeding diathesis due to integrin alpha2- beta Bleeding diathesis due to thromboxane synthesis 1997 Blepharo-cheilo-odontic 1251 Blepharo-facio-skeletal 1252 Blepharonasofacial malformation 126 Blepharophimosis - epicanthus inversus - ptosis Blepharophimosis - epicanthus inversus - ptosis due to a point mutation Blepharophimosis - epicanthus inversus - ptosis due to polya expansion Blepharophimosis - epicanthus inversus - ptosis, due to 3q23 microdeletion 2057 Blepharophimosis - ptosis - esotropia - syndactyly - short stature 1256 Blepharophimosis - radioulnar synostosis Blepharophimosis-intellectual deficit, MKB 2728 Blepharophimosis-intellectual deficit, Ohdo 3047 Blepharophimosis-intellectual deficit, SBBYS Blepharophimosis-intellectual deficit, Verloes 1258 Blepharoptosis - cleft palate - ectrodactyly - dental anomalies 1259 Blepharoptosis - myopia - ectopia lentis Blepharospasm - oromandibular dystonia Blindness - scoliosis - arachnodactyly 125 Bloom 2768 Blount disease 16 Blue cone monochromatism Blue diaper 1059 Blue rubber bleb nevus BNAR Bockenheimer Body skin hyperlaxity due to vitamin K-dependent coagulation factor Bohring-Opitz 1844 Bone dysplasia, Azouz 1261 Bonnemann-Meinecke-Reich 1262 Book 1263 Boomerang dysplasia 107 BOR Borderline ovarian epithelial tumor 127 Borjeson-Forssman-Lehmann Bosley-Salih-Alorainy Bothnia retinal dystrophy 1267 Botulism Boutonneuse fever 3331 Bowed tibiae - radial anomalies - osteopenia - fractures 1270 Bowen-Conradi 2619 Brachydactylous dwarfism, Mseleni 1273 Brachydactyly - anonychia 1276 Brachydactyly - arterial hypertension 1275 Brachydactyly - elbow wrist dysplasia 2946 Brachydactyly - long thumb 1277 Brachydactyly - mesomelia - intellectual deficit - heart defects 1246 Brachydactyly - nystagmus - cerebellar ataxia 1278 Brachydactyly - preaxial hallux varus 1280 Brachydactyly - tibial hypoplasia Brachydactyly of fingers Brachydactyly of fingers, bilateral Brachydactyly of fingers, unilateral Brachydactyly of toes Brachydactyly of toes, bilateral Brachydactyly of toes, unilateral Brachydactyly A Brachydactyly A Brachydactyly A Brachydactyly A Brachydactyly A Brachydactyly A Brachydactyly B Brachydactyly B Brachydactyly C Brachydactyly E Brachydactyly-syndactyly, Zhao 1292 Brachymorphism - onychodysplasia - dysphalangism 1293 Brachyolmia Brachyolmia 1, Hobaek Brachyolmia 1, Toledo Brachyolmia Brachyolmia Brachytelephalangic chondrodysplasia punctata 1295 Brachytelephalangy - dysmorphism - Kallmann Braddock Bradyopsia Brain calcification, Rajab Brain demyelination due to methionine adenosyltransferase Brain malformation - congenital heart disease - postaxial polydactyly Brain stem tumor Brain-lung-thyroid Branchiogenic deafness 1297 Branchio-oculo-facial Branchio-otic 1299 Branchio-skeleto-genital BRESEK Brill-Zinsser disease Brittle cornea 3123 Brittle hair, Sabinas Brody myopathy Bronchial endocrine tumor 1303 Bronchiolitis obliterans with obstructive pulmonary disease 2357 Bronchogenic cyst Bronchopulmonary dysplasia Brooke-Spiegler Brown-Vialetto-van Laere 1304 Brucellosis 2771 Bruck 130 Brugada 131 Budd-Chiari Buerger's disease Bullous diffuse cutaneous mastocytosis 1867 Bullous dystrophy, macular Bullous impetigo Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

11 33408 Bullous lichen planus 703 Bullous pemphigoid Bullous systemic lupus erythematosus 543 Burkitt lymphoma 1306 Buschke-Ollendorff Butterfly-shaped pigment dystrophy 132 Butyrylcholinesterase 1308 C C3 deposition glomerulonephritis without proliferation Cabezas 135 CACH 136 CADASIL 1310 Caffey disease Calcified aponeurotic fibroma Calciphylaxis cutis California encephalitis Calvarial doughnut lesions - bone fragility Camarena CAMOS 1318 Campomelia, Cumming 140 Campomelic dysplasia 1319 Camptobrachydactyly 1320 Camptocormia 1321 Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia 1323 Camptodactyly - joint contractures - facial skeletal defects Camptodactyly - tall stature - scoliosis - hearing loss 1325 Camptodactyly - taurinuria Camptodactyly of fingers 1327 Camptodactyly, Guadalajara Camptodactyly, Guadalajara Camptodactyly-arthropathy-coxa-varapericarditis 1328 Camurati-Engelmann disease 141 Canavan disease Cancer-associated retinopathy CANOMAD 1335 Cantrell pentalogy 1517 Cantu Cap myopathy Cap polyposis 188 Capillary leak Capillary malformation-arteriovenous malformation CARASIL 147 Carbamoylphosphate synthetase Carcinofibroma of the corpus uteri Carcinoid tumor and carcinoid Carcinoma of the ampulla of Vater Carcinoma of the gallbladder Cardiac anomalies - heterotaxy 1686 Cardiac diverticulum 2872 Cardiocranial, Pfeiffer Cardiodysrythmic potassium-sensitive periodic paralysis 1340 Cardiofaciocutaneous 1345 Cardiomyopathy - cataract - hip spine disease Cardiomyopathy - hypotonia - lactic acidosis 1349 Cardiomyopathy - maternally inherited deafness Cardiomyopathy - renal anomalies Cardiomyopathy-exercise intolerance due to muscle and heart glycogen 3238 Cardiospondylocarpofacial Carey 1358 Carey-Fineman-Ziter 1359 Carney complex Carney triad Carney-Stratakis 156 Carnitine palmitoyl transferase 1A 157 Carnitine palmitoyl transferase II Carnitine palmitoyl transferase II, myopathic form Carnitine palmitoyl transferase II, neonatal form Carnitine palmitoyl transferase II, severe infantile form 158 Carnitine uptake 159 Carnitine-acylcarnitine translocase 1361 Carnosinemia Caroli disease 1362 Carpal deformity - micrognathia - microstomia Carpenter Carpenter-Waziri 2767 Carpotarsal osteochondromatosis 175 Cartilage-hair hypoplasia 160 Castleman disease 1373 Cataract - aberrant oral frenula - growth delay 1368 Cataract - ataxia - deafness 1369 Cataract - cardiomyopathy 1383 Cataract - deafness - hypogonadism 1375 Cataract - hypertrichosis - intellectual deficit 1381 Cataract - intellectual deficit - anal atresia - urinary defects 1387 Cataract - intellectual deficit - hypogonadism 1380 Cataract - nephropathy - encephalopathy Cataract with Y-shaped suture opacities Cataract, Coppock-like Cataract, Hutterite 162 Cataract-glaucoma 1377 Cataract-microcornea 3286 Catecholaminergic polymorphic ventricular tachycardia 1388 Catel-Manzke 195 Cat-eye Cat-scratch disease CATSPER1-related non syndromic male infertility 1756 Caudal duplication 3027 Caudal regression sequence 2124 Cavernous hemangiomas of face - supraumbilical midline raphe Cavitary myiasis CD CDG Ia CDG Ib CDG Ic CDG Id CDG Ie CDG If CDG Ig CDG Ih CDG Ii CDG Ij CDG Ik CDG IL CDG Im CDG In CDG Io CDG Ip CDG Ir CDG IIa CDG IIb CDG IId CDG IIe CDG IIf CDG IIg CDG IIh CDG IIi CDG IIj CEDNIK 1459 Celiac disease, epilepsy and cerebral calcification Celiac trunk compression Celosomia 3258 Cenani-Lenz syndactyly Central areolar choroidal dystrophy 2431 Central bilateral macrogyria Central cloudy dystrophy of Francois 597 Central core disease Central diabetes insipidus Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

12 3240 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 toes Central polydactyly of toes, bilateral Central polydactyly of toes, unilateral 759 Central precocious puberty Centrifugal lipodystrophy Centripetal dystrophic epidermolysis bullosa 1171 Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss 1174 Cerebellar ataxia - ectodermal dysplasia 1173 Cerebellar ataxia - hypogonadism Cerebellar ataxia, Cayman 2246 Cerebellar hypoplasia - tapetoretinal degeneration Cerebellar liponeurocytoma 1397 Cerebellum agenesis - hydrocephaly Cerebral arteriovenous fistula 2081 Cerebral gigantism - jaw cysts Cerebral vasculopathy with early-onset stroke 1393 Cerebro-costo-mandibular Cerebrofacial arteriovenous metameric Cerebrofacial arteriovenous metameric Cerebro-facio-thoracic dysplasia Cerebro-oculo-nasal 1396 Cerebro-reno-digital 3421 Cerebroretinal vasculopathy 909 Cerebrotendinous xanthomatosis Cerulean cataract Cervical aorta arch Cervical dermoid cyst Cervical dystonia 2218 Cervical hypertrichosis - peripheral neuropathy Cervical spina bifida aperta Cervical spina bifida cystica Cervicofacial fibrochondroma Cervicofacial lymphangioma Cervicothoracic spina bifida aperta Cervicothoracic spina bifida cystica 1401 CHAND Chandler Channelopathy-associated congenital insensitivity to pain 3282 Chaotic atrial tachycardia Char Charcot-Marie-Tooth disease - deafness - intellectual deficit Charcot-Marie-Tooth disease - nephropathy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 1A Charcot-Marie-Tooth disease 1B Charcot-Marie-Tooth disease 1C Charcot-Marie-Tooth disease 1D Charcot-Marie-Tooth disease 1E Charcot-Marie-Tooth disease 1F Charcot-Marie-Tooth disease 2B Charcot-Marie-Tooth disease 2B Charcot-Marie-Tooth disease 2H Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 4A Charcot-Marie-Tooth disease 4B Charcot-Marie-Tooth disease 4B Charcot-Marie-Tooth disease 4C Charcot-Marie-Tooth disease 4D Charcot-Marie-Tooth disease 4E Charcot-Marie-Tooth disease 4F Charcot-Marie-Tooth disease 4G Charcot-Marie-Tooth disease 4H Charcot-Marie-Tooth disease 4J 138 CHARGE 1406 Charlie M 167 Chediak-Higashi 1221 Cheilitis glandularis Cheiro-spondyloenchondromatosis 184 Cherubism Chilblain lupus 139 CHILD Childhood absence epilepsy Childhood disintegrative disorder Childhood encephalopathy due to thiamine pyrophosphokinase Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Childhood-onset cortical cataract Childhood-onset hypophosphatasia Childhood-onset proximal spinal muscular atrophy, autosomal dominant Choanal atresia 1200 Choanal atresia - deafness - cardiac defects - dysmorphism Cholangiocarcinoma 2359 Choledochal cyst - hand malformation 173 Cholera 1414 Cholestasis - lymphedema 1415 Cholestasis - pigmentary retinopathy - cleft palate Cholesterol-ester transfer protein Cholesteryl ester storage disease 1422 Chondrodysplasia - disorder of sex development 1424 Chondrodysplasia - situs inversus - imperforate anus - polydactyly Chondrodysplasia punctata, Sheffield Chondrodysplasia punctata, tibial-metacarpal Chondrodysplasia punctata, Toriello Chondrodysplasia with joint dislocations, gpapp Chondrodysplasia, Blomstrand Chondrosarcoma Chordoid glioma 178 Chordoma 2388 Choreoacanthocytosis Choriocarcinoma of the central nervous system 179 Chorioretinopathy, Birdshot Choristoma Choroid plexus carcinoma 1433 Choroidal atrophy - alopecia 180 Choroideremia 1435 Choroideremia - deafness - obesity 1434 Choroideremia - hypopituitarism 181 Christ-Siemens-Touraine 182 Chromomycosis 2137 Chronic autoimmune hepatitis Chronic B-cell lymphocytic leukemia 133 Chronic berylliosis Chronic diarrhea due to glucoamylase 1670 Chronic diarrhea with villous atrophy Chronic eosinophilic leukemia Chronic graft versus host disease 379 Chronic granulomatous disease Chronic hepatic porphyria 396 Chronic hiccup 2932 Chronic inflammatory demyelinating polyneuropathy Chronic intestinal failure 2978 Chronic intestinal pseudo-obstruction 1334 Chronic mucocutaneous candidiasis 521 Chronic myeloid leukemia Chronic myelomonocytic leukemia Chronic neutrophilic leukemia Chronic pain requiring intraspinal analgesia Chronic pneumonitis of infancy Chronic proteinuria with focal and segmental hyalinosis Chronic respiratory distress with surfactant metabolism Chronic thromboembolic pulmonary hypertension Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

13 CHST3-related skeletal dysplasia Chudley-Lowry-Hoar 183 Churg-Strauss Chuvash erythrocytosis Chylomicron retention - Marinesco-Sjögren 71 Chylomicron retention disease 1160 Chylous ascites 1451 CINCA CINCA with CIAS1 mutations CINCA without CIAS1 mutations 1114 Circumscribed cutaneous aplasia of the vertex Circumscribed lymphatic malformation Circumscribed palmoplantar hypokeratosis Cirrhotic cardiomyopathy 187 Citrullinemia Citrullinemia I Citrullinemia II CK CLAPO Classic Bartter Classic galactosemia Classic maple syrup urine disease Classic mast cell leukemia Classic Mayer-Rokitansky-Küster-Hauser Classic medulloblastoma Classic pantothenate kinase associated neurodegeneration Classic paraneoplastic limbic encephalitis Classic seminoma 394 Classical homocystinuria 2584 Classical mycosis fungoides Classical phenylketonuria Classical progressive supranuclear palsy Cleft hard palate 1995 Cleft lip - retinopathy Cleft lip/palate 2003 Cleft lip/palate - deafness - sacral lipoma Cleft lip/palate - ectodermal dysplasia - acral anomalies 2001 Cleft lip/palate - intestinal malrotation - cardiopathy Cleft lip/palate - oligodontia - syndactyly - hair defect Cleft mitral valve 2014 Cleft palate 2013 Cleft palate - large ears - small head 2015 Cleft palate - short stature - vertebral anomalies 2010 Cleft palate - stapes fixation - oligodontia 2016 Cleft palate-lateral synechia Cleft velum 1453 Cleido rhizomelic 1452 Cleidocranial dysplasia CLIPPERS CLN1 disease CLN2 disease CLN3 disease CLN4A disease CLN4B disease CLN5 disease CLN6 disease CLN7 disease CLN8 disease CLN9 disease CLN10 disease Cloacal exstrophy Clonic hemifacial spasm Closed iniencephaly 189 Clouston CLOVE Cloverleaf skull - asphyxiating thoracic dysplasia Cloverleaf skull - multiple congenital anomalies 1967 Coarse face - hypotonia - constipation 190 Coats disease Cobb 1911 Cocaine embryofetopathy Cocaine poisoning Coccidioidomycosis 3233 Cochleosaccular degeneration - cataract 191 Cockayne Cockayne Cockayne Cockayne CODAS Coenzyme Q Coffin-Lowry 1465 Coffin-Siris 1466 COFS 1467 Cogan Cogan-Reese 193 Cohen Colchicine poisoning Cold agglutinin disease Cold-induced sweating 2050 Cole-Carpenter Collagen III glomerulopathy Collagenous colitis Collecting duct carcinoma Coloboma of choroid and retina Coloboma of eye lens Coloboma of eyelid Coloboma of iris Coloboma of macula 1471 Coloboma of macula - brachydactyly B Coloboma of optic papilla Colobomatous microphthalmia Colon endocrine tumor 1198 Colonic atresia Colorado tick fever Combined of factor V and factor VIII Combined hyperactive dysfunction of the cranial nerves Combined immuno due to CD3gamma 911 Combined immuno due to ZAP Combined immuno with faciooculo-skeletal anomalies Combined malonic and methylmalonic acidemia Combined oxidative phosphorylation defect Combined oxidative phosphorylation defect Combined oxidative phosphorylation defect Combined pituitary hormone deficiencies, genetic forms Combined pulmonary fibrosis-emphysema Commissural facial cleft Commissural lip fistula Common hereditary elliptocytosis 620 Common mesentery 1572 Common variable immuno Common variable immuno due to an intrinsic B cell defect Common variable immuno due to an intrinsic T cell defect Common variable immuno due to TNFR Common variable immuno without known genetic defect Communicating congenital bronchopulmonary-foregut malformation Complement component Complement component receptor Complete androgen insensitivity 1329 Complete atrioventricular canal Complete atrioventricular canal - Fallot tetralogy Complete atrioventricular canal - left heart obstruction Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

14 99067 Complete atrioventricular canal - ventricle hypoplasia Complete cryptophthalmia Complete of methylmalonyl-coa mutase Complex regional pain Complex regional pain Complex regional pain Complex X-linked hereditary spastic paraplegia Complicated spastic paraplegia Composite lymphoma Condensing osteitis of the medial clavicle 3216 Conductive deafness - malformed external ear 3236 Conductive deafness - ptosis - skeletal anomalies Cone dystrophy with supernormal rod response 1872 Cone rod dystrophy Confetti-like macular atrophy 3091 Congenital abnormal systemic venous return 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 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/hypoplasia of fingers excluding thumb Congenital absence/hypoplasia of fingers excluding thumb, bilateral 973 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 418 Congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 11-beta-hydroxylase Congenital adrenal hyperplasia due to 17-alpha-hydroxylase Congenital adrenal hyperplasia due to 21-hydroxylase, classic form Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase Congenital adrenal hypoplasia of maternal cause 79 Congenital alpha2 antiplasmin Congenital alveolar capillary dysplasia 3319 Congenital amegakaryocytic thrombocytopenia Congenital analbuminemia Congenital anomaly of hepatic vein Congenital anomaly of superior vena cava Congenital anomaly of the coronary sinus Congenital anomaly of the inferior vena cava Congenital anonychia Congenital aortic valve insufficiency 3093 Congenital aortic valve stenosis 48 Congenital bilateral absence of vas deferens Congenital bilateral megacalycosis Congenital bile acid synthesis defect Congenital bile acid synthesis defect Congenital bile acid synthesis defect Congenital bile acid synthesis defect Congenital blindness due to retinal nonattachment 2292 Congenital bowing of long bones Congenital brain dysgenesis due to glutamine synthetase 2040 Congenital bronchobiliary fistula 1376 Congenital cataract - ichthyosis Congenital cataract microcornea with corneal opacity Congenital cataract, Volkmann Congenital cataract-hearing loss-severe developmental delay Congenital cataracts - facial dysmorphism - neuropathy Congenital central diabetes insipidus Congenital chloride diarrhea Congenital chylothorax Congenital communicating hydrocephalus Congenital complete agenesis of pericardium 115 Congenital contractural arachnodactyly Congenital cornea plana Congenital coronary artery aneurysm Congenital in alpha-fetoprotein 2140 Congenital diaphragmatic hernia 85 Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia due to KLF1 mutation Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia Congenital ectropion uveae Congenital elbow dislocation Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital enterocyte heparan sulfate Congenital enteropathy due to enteropeptidase 292 Congenital enterovirus infection Congenital Epstein-Barr virus infection Congenital epulis Congenital erosive and vesicular dermatosis Congenital erythropoietic porphyria Congenital esophageal diverticulum Congenital eyelid retraction 325 Congenital factor II 326 Congenital factor V 327 Congenital factor VII 328 Congenital factor X 329 Congenital factor XI 330 Congenital factor XII 331 Congenital factor XIII 2020 Congenital fiber- disproportion myopathy 335 Congenital fibrinogen Congenital fibrosis of extraocular muscles Congenital generalized hypertrichosis, Ambras Congenital genu flexum Congenital genu recurvatum Congenital glaucoma Congenital heart block Congenital hereditary endothelial dystrophy I Congenital hereditary endothelial dystrophy II 293 Congenital herpes virus infection 483 Congenital high-molecular-weight kininogen Congenital Horner 2185 Congenital hydrocephalus Congenital hydromyelia 2190 Congenital hydronephrosis 2113 Congenital hypothalamic hamartoma 442 Congenital hypothyroidism Congenital hypothyroidism due to maternal intake of antithyroid drugs Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

15 95715 Congenital hypothyroidism due to transplacental passage of maternal TSHbinding inhibitory antibodies Congenital hypotrichosis milia 2271 Congenital ichthyosis - microcephalus - quadriplegia Congenital insensitivity to pain with hyperhidrosis Congenital intestinal lymphangiectasia 1229 Congenital intrauterine infection-like 332 Congenital intrinsic factor Congenital isolated ACTH Congenital isolated thyroxine-binding globulin Congenital knee dislocation Congenital lactase Congenital laryngeal cyst Congenital laryngeal palsy 2374 Congenital laryngeal web 2373 Congenital laryngomalacia 1954 Congenital lethal erythroderma Congenital lethal myopathy, Compton-North Congenital lipoid adrenal hyperplasia Congenital liver hemangioma 1928 Congenital lobar emphysema 2430 Congenital macroglossia Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Congenital megacalycosis 2665 Congenital mesoblastic nephroma 566 Congenital microcoria Congenital microgastria Congenital mitral stenosis Congenital multicore myopathy with external ophthalmoplegia Congenital muscular dystrophy 1875 Congenital muscular dystrophy - infantile cataract - hypogonadism Congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to phosphatidyl choline biosynthesis defect 258 Congenital muscular dystrophy 1A Congenital muscular dystrophy 1B Congenital muscular dystrophy 1C Congenital muscular dystrophy 1D Congenital muscular dystrophy with integrin 272 Congenital muscular dystrophy, Fukuyama Congenital muscular dystrophy, Ullrich 590 Congenital myasthenic s Congenital myopathy Congenital myopathy with excess of thin filaments Congenital myopathy, Paradas 831 Congenital narrowing of cervical spinal canal Congenital nasal pyriform aperture stenosis with holoprosencephaly 839 Congenital nephrotic, Finnish Congenital neuronal ceroid lipofuscinosis Congenital nonbullous ichthyosiform erythroderma Congenital non-communicating hydrocephalus Congenital onychodysplasia 2772 Congenital osteogenesis imperfecta - microcephaly - cataracts Congenital panfollicular nevus 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 2846 Congenital pericardium anomaly 465 Congenital plasminogen activator inhibitor Congenital prekallikrein Congenital primary aphakia 2416 Congenital primary lymphedema 617 Congenital primary megaureter Congenital primary megaureter, nonrefluxing and unobstructed form Congenital primary megaureter, obstructed form Congenital primary megaureter, refluxing form Congenital pseudoarthrosis of clavicle Congenital pseudoarthrosis of the femur Congenital pseudoarthrosis of the fibula Congenital pseudoarthrosis of the leg Congenital pseudoarthrosis of the radius Congenital pseudoarthrosis of the tibia Congenital pseudoarthrosis of the ulna Congenital ptosis 2444 Congenital pulmonary airway malformation of the lung Congenital pulmonary airway malformation, Congenital pulmonary airway malformation, Congenital pulmonary airway malformation, Congenital pulmonary airway malformation, Congenital pulmonary airway malformation, Congenital pulmonary alveolar proteinosis 2414 Congenital pulmonary lymphangiectasia 3161 Congenital pulmonary sequestration 3189 Congenital pulmonary valve stenosis 3188 Congenital pulmonary veins stenosis 3090 Congenital pulmonary venous return anomaly Congenital renal artery stenosis Congenital reticular ichthyosiform erythroderma 290 Congenital Rubella Congenital secondary polycythemia 2301 Congenital short bowel Congenital shoulder dislocation Congenital sialidosis Congenital smooth muscle hamartoma Congenital sodium diarrhea 215 Congenital stationary night blindness Congenital stenosis of the inferior vena cava Congenital stromal corneal dystrophy Congenital subglottic stenosis Congenital sucrase-isomaltase Congenital supravalvular mitral ring Congenital symblepharon Congenital syngnathia Congenital temporomandibular joint ankylosis Congenital thrombotic thrombocytopenic purpura due to ADAMTS Congenital total pulmonary venous return anomaly 858 Congenital toxoplasmosis Congenital tracheal stenosis Congenital tracheomalacia Congenital tricuspid stenosis Congenital trigeminal anesthesia Congenital trochlear nerve palsy Congenital unguarded mitral orifice 2258 Congenital unilateral pulmonary hypoplasia 1864 Congenital valvular dysplasia 2291 Congenital velopharyngeal incompetence Congenital vertical talus Congenital vertical talus, bilateral Congenital vertical talus, unilateral Congenitally corrected transposition of the great arteries 2391 Congenitally short costocoracoid ligament Congenitally uncorrected transposition of the great arteries with cardiac malformation Congenitally uncorrected transposition of the great arteries with coarctation Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

16 Connective tissue disorder due to lysyl hydroxylase Conotruncal heart malformations Constitutional dyserythropoietic anemia Constitutional mismatch repair Constriction rings 725 Continuous spike-wave during slow sleep 1484 Contractures - ectodermal dysplasia - cleft lip/palate 1487 Cooks 1488 Cooper-Jabs Cor triatriatum dexter Cor triatriatum sinister Coralliform cataract Cordiformis uterus 1051 Corneal anesthesia - deafness - intellectual deficit 1490 Corneal dystrophy - perceptive deafness Corneal lesions with associated corneal stem cell due to ocular burns 3177 Corneal-cerebellar 199 Cornelia de Lange Coronal dentin dysplasia 2041 Coronary arterial fistulas 1081 Coronary artery congenital malformation Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis Coronary artery intramyocardial course Coronary sinus atresia Coronary sinus stenosis 1492 Corpus callosum agenesis - double urinary collecting system 1496 Corpus callosum agenesis - neuronopathy 1499 Cortada-Koussef-Matsumoto Cortes-Lacassie 1389 Cortical blindness - intellectual deficit - polydactyly Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Cortical dysplasia - focal epilepsy 278 Corticobasal degeneration Corticosteroid-binding globulin Corticosteroid-sensitive aseptic abscesses 3071 Costello 1502 Cote-Katsantoni 201 Cowden 1508 Coxoauricular 1509 Coxo-podo-patellar 202 Crandall 1512 Crane-Heise Cranial meningocele 1339 Cranioacrofacial 1513 Craniodiaphyseal dysplasia 1514 Craniodigital - intellectual deficit 1515 Cranioectodermal dysplasia Craniofacial conodysplasia 1789 Craniofacial dysostosis - arthrogryposis - progeroid appearance 1516 Craniofacial dyssynostosis 1529 Craniofacial-deafness-hand Craniofacial-ulnar-renal 1800 Craniofaciocervical osteoglyphic dysplasia 1520 Craniofrontonasal dysplasia 1521 Craniofrontonasal dysplasia - Poland anomaly Craniolenticulosutural dysplasia Craniometadiaphyseal dysplasia, wormian bone 1522 Craniometaphyseal dysplasia 1524 Craniomicromelic 1525 Cranio-osteoarthropathy Craniopharyngioma Craniorachischisis Craniorhiny Craniosynostosis - anal anomalies - porokeratosis 1530 Craniosynostosis - cataract 1538 Craniosynostosis - Dandy-Walker - hydrocephalus 1535 Craniosynostosis - dysmorphism - brachydactyly 1533 Craniosynostosis - fibular aplasia Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis Craniosynostosis - intracranial calcifications 1526 Craniosynostosis - synostoses - hypertensive nephropathy Craniosynostosis and dental anomalies 1541 Craniosynostosis, Boston 2145 Craniosynostosis, Herrmann-Opitz 1527 Craniosynostosis, Philadelphia 1534 Craniosynostosis-radial aplasia, Imaizumi 1528 Craniotelencephalic dysplasia Cree leukoencephalopathy 504 Creeping myiasis CREST 204 Creutzfeldt-Jakob disease 205 Crigler-Najjar Crigler-Najjar Crigler-Najjar Crimean-Congo hemorrhagic fever 1545 Crisponi 1461 Criss-cross heart 2930 Cronkhite-Canada 2935 Crossed polysyndactyly 207 Crouzon disease Crouzon - acanthosis nigricans 1546 Cryptococcosis Cryptogenic late-onset epileptic spasms 1302 Cryptogenic organizing pneumonia 1547 Cryptomicrotia - brachydactyly - excess fingertip arch 1548 Cryptorchidism - arachnodactyly - intellectual deficit 1549 Cryptosporidiosis 1552 Currarino triad 1553 Curry-Jones Cushing disease 553 Cushing Cutaneous amyloidosis Cutaneous collagenous vasculopathy 889 Cutaneous leukocytoclastic angiitis 535 Cutaneous lupus erythematosus Cutaneous mastocytoma Cutaneous mastocytosis Cutaneous neuroendocrine carcinoma 2881 Cutaneous photosensitivity - lethal colitis 1555 Cutis gyrata - acanthosis nigricans - craniosynostosis 209 Cutis laxa Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Cutis laxa-marfanoid 1556 Cutis marmorata telangiectatica congenita 671 Cutis verticis gyrata 1557 Cutis verticis gyrata - intellectual deficit Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness Cutis verticis gyrata - thyroid aplasia - intellectual deficit 2686 Cyclic neutropenia 210 Cyclosporosis Cylindrical spirals myopathy 2674 Cyprus facial-neuromusculoskeletal 212 Cystathioninuria 586 Cystic fibrosis 2575 Cystic fibrosis - gastritis - megaloblastic anemia 2111 Cystic hamartoma of lung and kidney Cystic hygroma Cystic leukoencephalopathy without megalencephaly 1560 Cysticercosis 213 Cystinosis 214 Cystinuria Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

17 93612 Cystinuria A Cystinuria B Cystoid macular dystrophy Cytomegalic congenital adrenal hypoplasia Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk Cytophagic histiocytic panniculitis Czech dysplasia, metatarsal D-2-hydroxyglutaric aciduria 1562 Dacryocystitis - osteopoikilosis 1563 Dahlberg-Borer-Newcomer 1564 Dandy Walker - facial hemangioma 1566 Dandy-Walker malformation - postaxial polydactyly Dappled diaphyseal dysplasia 218 Darier disease 2962 De Barsy 3214 Deaf blind hypopigmentation, Yemenite 3217 Deafness - small bowel diverticulosis - neuropathy 3232 Deafness - ear malformation - facial palsy 3220 Deafness - enamel hypoplasia - nail defects Deafness - encephaloneuropathy - obesity - valvulopathy 3218 Deafness - epiphyseal dysplasia - short stature 3224 Deafness - genital anomalies - metacarpal and metatarsal synostosis Deafness - hypogonadism Deafness - intellectual deficit, Martin-Probst 3226 Deafness - lymphedema - leukemia 3230 Deafness - oligodontia 3231 Deafness - onychodystrophy Deafness - onychodystrophy, autosomal dominant Deafness - onychodystrophy, autosomal recessive 3213 Deafness - opticoacoustic nerve atrophy - dementia 3229 Deafness - peripheral neuropathy - arterial disease 3239 Deafness - vitiligo - achalasia 3215 Deafness - white hair - contractures - papillomas Deafness with labyrinthine aplasia, microtia, and microdontia 3241 Deafness-craniofacial Deafness-infertility Dedifferentiated liposarcoma Deficiency in anterior pituitary functionvariable immuno Deficiency of short chain acyl-coa dehydrogenase 1578 Dehydratase 3202 Dehydrated hereditary stomatocytosis Dejerine-Sottas Delayed graft function after organ transplantation 3034 Delayed membranous cranial ossification 3038 Delayed speech - facial asymmetry - strabismus - ear lobe creases 1594 Deletion 14qter 1611 Deletion 20p 1625 Deletion 4q Deletion 6q Delta-beta thalassemia Dementia pugilistica 283 Demodicidosis DEND Dendritic cell sarcoma not otherwise specified Dengue 1651 Dennis-Cohen 1652 Dent disease Dent disease Dent disease Dental ankylosis 101 Dentatorubral-pallidoluysian atrophy 1653 Dentin dysplasia Dentin dysplasia - sclerotic bones Dentin dysplasia I Dentin dysplasia II Dentinogenesis imperfecta Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit Dentinogenesis imperfecta Dentinogenesis imperfecta Denys-Drash 1656 Dermatitis herpetiformis 1266 Dermato-cardio-skeletal, Borrone Dermatofibrosarcoma protuberans 1659 Dermatoleukodystrophy 221 Dermatomyositis 1657 Dermatoosteolysis, Kirghizian Dermatopathia pigmentosa reticularis Dermochondrocorneal dystrophy 1660 Dermo-odonto dysplasia Dermotrichic 1425 Desbuquois Desminopathy Desmin-related myopathy with Mallory bodylike inclusions 873 Desmoid disease Desmoplastic infantile astrocytoma/ ganglioglioma Desmoplastic small round cell tumor Desmoplastic/nodular medulloblastoma Desmosterolosis Desquamative interstitial pneumonia Developmental delay - deafness, Hildebrand Developmental delay due to methylmalonate semialdehyde dehydrogenase Developmental malformations - deafness - dystonia 1666 Dextrocardia D-glycerate dehydrogenase 941 D-glycericacidemia 1926 Diabetic embryopathy Dianzani autoimmune lymphoproliferative disease Diaphanospondylodysostosis 2141 Diaphragmatic defect - limb - skull defect Diaphyseal medullary stenosis - bone malignancy Diarrhea-vomiting due to trehalase 1671 Diastematomyelia 628 Diastrophic dwarfism Diazoxide-resistant focal hyperinsulinism due to Kir Diazoxide-resistant focal hyperinsulinism due to SUR Dicarboxylicaminoaciduria Didelphys uterus 1672 Diencephalic 1916 Diethylstilbestrol Diffuse alveolar hemorrhage Diffuse astrocytoma Diffuse cutaneous mastocytosis Diffuse cutaneous systemic sclerosis 544 Diffuse large B-cell lymphoma Diffuse large B-cell lymphoma of the central nervous system Diffuse large B-cell lymphoma with chronic inflammation Diffuse leptomeningeal melanocytosis Diffuse lymphatic malformation 2123 Diffuse neonatal hemangiomatosis Diffuse palmoplantar keratoderma - acrocyanosis Diffuse panbronchiolitis 238 Digestive duplication Digestive duplication cyst of the tongue Digitalis poisoning 1146 Digitotalar dysmorphism 226 Dihydropteridine reductase 1675 Dihydropyrimidine dehydrogenase Dihydropyrimidinuria Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

18 2229 Dilated cardiomyopathy - hypergonadotropic hypogonadism Dilated cardiomyopathy with ataxia Dimethylglycine dehydrogenase 2816 Diomedi-Bernardi-Placidi 227 Diphallia 1679 Diphtheria 128 Diphyllobothriasis 1681 Diprosopia Dirofilariasis Discoid lupus erythematosus Discrete fibromuscular subaortic stenosis Discrete fixed membranous subaortic stenosis Discrete papular lichen myxedematosus 2412 Dislocation of the hip - dysmorphism 872 Disorder in the hormonal synthesis with or without goiter 2983 Disorder of sex development - intellectual deficit 345 Dissecting cellulitis of the scalp Disseminated peritoneal leiomyomatosis Disseminated superficial actinic porokeratosis Disseminated superficial actinic porokeratosis Disseminated superficial actinic porokeratosis Distal 16p11.2 microdeletion Distal 17p13.3 microdeletion Distal 22q11.2 microdeletion Distal 22q11.2 microduplication Distal 7q11.23 microdeletion Distal 7q11.23 microduplication Distal arthrogryposis Distal hereditary motor neuropathy Distal hereditary motor neuropathy Distal hereditary motor neuropathy Distal hereditary motor neuropathy Distal hereditary motor neuropathy Distal hereditary motor neuropathy, Jerash 1307 Distal limb deficiencies - micrognathia Distal monosomy 1q 1620 Distal monosomy 3p Distal monosomy 4q 1627 Distal monosomy 5q Distal monosomy 6p Distal monosomy 7p 1636 Distal monosomy 7q Distal monosomy 8p 1642 Distal monosomy 9p 1580 Distal monosomy 10p Distal monosomy 10q Distal monosomy 12p Distal monosomy 12q 1590 Distal monosomy 13q Distal monosomy 14q 1596 Distal monosomy 15q 1597 Distal monosomy 17q Distal monosomy 19p Distal monosomy 20q Distal myopathy with anterior tibial onset Distal myopathy with early respiratory muscle involvement Distal myopathy with posterior leg and anterior hand involvement 600 Distal myopathy with vocal cord weakness 602 Distal myopathy, Nonaka 603 Distal myopathy, Welander 3410 Distal obstructive uropathy - polydactyly 18 Distal renal tubular acidosis Distal spinal muscular atrophy Distal symphalangism Distal trisomy 1p Distal trisomy 2p Distal trisomy 2q Distal trisomy 3p Distal trisomy 4p Distal trisomy 4q Distal trisomy 5q 1745 Distal trisomy 6p Distal trisomy 6q Distal trisomy 7p Distal trisomy 8q Distal trisomy 9q Distal trisomy 10q Distal trisomy 11q Distal trisomy 13q 1705 Distal trisomy 14q 1707 Distal trisomy 15q Distal trisomy 16p Distal trisomy 16q 3379 Distal trisomy 17q 1716 Distal trisomy 18q 1717 Distal trisomy 19q Distal trisomy 20q Distal trisomy 22q Distal Xq28 microduplication 1683 Distichiasis - congenital heart defects - peripheral vascular anomalies 1685 Distomatosis Dolichocephaly - dental defect - trichodysplasia Dominant beta-thalassemia Dominant hypophosphatemia with nephrolithiasis or osteoporosis 2143 Donnai-Barrow Dopa responsive dystonia due to sepiapterin reductase 230 Dopamine beta-hydroxylase 255 Dopa-responsive dystonia Dorfman-Chanarin disease 3427 Double outlet left ventricle 3426 Double outlet right ventricle Double outlet right ventricle with doubly committed ventricular septal defect Double outlet right ventricle with noncommitted subpulmonary ventricular septal defect Double outlet right ventricle with subaortic ventricular septal defect Double outlet right ventricle with subpulmonary ventricular septal defect Double outlet right ventricle, Fallot 3411 Double uterus - hemivagina - renal agenesis Double-orifice mitral valve Dowling-Degos disease 870 Down 231 Dracunculiasis Dravet Drug rash with eosinophilia and systemic symptoms Drug-induced autoimmune hemolytic anemia Drug-induced localized lipodystrophy Drug-induced lupus erythematosus Dry skin - extranumerary areolae Duane anomaly - myopathy - scoliosis 233 Duane 234 Dubin-Johnson 235 Dubowitz 262 Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy 1203 Duodenal atresia Duodenal endocrine tumor 1739 Duplication 4q Duplication of the esophagus 237 Duplication of urethra 3306 Duplication/inversion 15q Dural sinus malformation Dursun 2650 Dwarfism - intellectual deficit - eye abnormality 2661 Dwarfism - tall vertebrae 239 Dyggve-Melchior-Clausen disease 1765 Dyschondrosteosis - nephritis 241 Dyschromatosis universalis Dysembryoplastic neuroepithelial tumor 1766 Dysequilibrium Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

19 67044 Dyserythropoietic anemia with thrombocytopenia 1775 Dyskeratosis congenita 1965 Dysmorphism - arthrogryposis - advanced skeletal maturation 1779 Dysmorphism - cleft palate - loose skin Dysmorphism - conductive hearing loss - heart defect 1780 Dysmorphism - multiple structural anomalies 2104 Dysmorphism - pectus carinatum - joint laxity 2282 Dysmorphism - short stature - deafness - disorder of sex development 1782 Dysosteosclerosis 1798 Dysostosis, Stanescu Dysphagia lusoria 1822 Dysplasia epiphysealis hemimelica Dysplasia of head of femur, Meyer 2204 Dysplastic cortical hyperostosis 1804 Dyssegmental dysplasia - glaucoma Dyssegmental dysplasia, Rolland-Desbuquois 1865 Dyssegmental dysplasia, Silverman- Handmaker Dysspondyloenchondromatosis Dystonia Dystonia-parkinsonism, Paisan-Ruiz 303 Dystrophic epidermolysis bullosa Dystrophic epidermolysis bullosa inversa Eales disease 1934 Early infantile epileptic encephalopathy 1935 Early myoclonic encephalopathy 256 Early onset torsion dystonia 1020 Early-onset autosomal dominant Alzheimer disease Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation Early-onset myopathy with fatal cardiomyopathy 2379 Early-onset parkinsonism - intellectual deficit Early-onset sarcoidosis Early-onset X-linked optic atrophy 2554 Ear-patella-short stature Eastern equine encephalitis Eating seizures 1880 Ebstein malformation Ectasia of the left appendage Ectasia of the right atrial appendage Ectodermal defect - skeletal abnormalities 1881 Ectodermal dysplasia - arthrogryposis - diabetes mellitus 1806 Ectodermal dysplasia - blindness Ectodermal dysplasia - cutaneous syndactyly Ectodermal dysplasia - digital and eye anomalies 1812 Ectodermal dysplasia - intellectual deficit - central nervous system malformation 1883 Ectodermal dysplasia - sensorineural deafness Ectodermal dysplasia - skin fragility Ectodermal dysplasia - syndactyly Ectodermal dysplasia with tetramelic deficiencies Ectodermal dysplasia with cardiac and skeletal abnormalities Ectodermal dysplasia with natal teeth, Turnpenny Ectodermal dysplasia with pillous anomaly and syndactyly 1816 Ectodermal dysplasia, Berlin 1818 Ectodermal dysplasia, tricho-odontoonychial 1884 Ectopia lentis - chorioretinal dystrophy - myopia 1885 Ectopia lentis Ectopic aldosterone-producing tumor Ectopic Cushing 1892 Ectrodactyly - polydactyly 1894 Ectrodactyly - spina bifida - cardiopathy 1895 Edinburgh malformation 1896 EEC 1897 EEM Ehlers-Danlos Ehlers-Danlos Ehlers-Danlos Ehlers-Danlos 6A Ehlers-Danlos 7A Ehlers-Danlos 7B 2295 Ehlers-Danlos Ehlers-Danlos with periventricular heterotopia 1899 Ehlers-Danlos, arthrochalasic Ehlers-Danlos, cardiac valvular 287 Ehlers-Danlos, classic Ehlers-Danlos, classic-like 1901 Ehlers-Danlos, dermatosparaxis Ehlers-Danlos, fibronectinemic 285 Ehlers-Danlos, hypermobility Ehlers-Danlos, kyphoscoliotic and deafness 1900 Ehlers-Danlos, kyphoscoliotic 2953 Ehlers-Danlos, musculocontractural Ehlers-Danlos, periodontitis Ehlers-Danlos, progeroid Ehlers-Danlos, spondylocheiro dysplastic 286 Ehlers-Danlos, vascular Ehlers-Danlos, vascular-like Ehlers-Danlos/osteogenesis imperfecta 1902 Ehrlichiosis Eiken Eisenmenger Elastoderma Elastofibroma dorsi Elastoma Elastosis perforans serpiginosa 289 Ellis Van Creveld Emanuel 1914 Embryofetopathy due to oral anticoagulant therapy Embryonal carcinoma Embryonal rhabdomyosarcoma 1664 Embryonary disorganization 261 Emery-Dreifuss muscular dystrophy 1927 Emery-Nelson Encephalitis lethargica 2396 Encephalocraniocutaneous lipomatosis 1035 Encephalopathy due to betamercaptolactate-cysteine disulfiduria Encephalopathy due to hydroxykynureninuria Encephalopathy due to prosaposin 833 Encephalopathy due to sulfite oxidase 296 Enchondromatosis Encircling double aortic arch Endocrine-cerebro-osteodysplasia Endometrial stromal sarcoma 2022 Endomyocardial fibroelastosis Endophthalmitis Endosteal sclerosis - cerebellar hypoplasia Endotheliitis 1937 Eng-Strom 299 Enolase Enteropathy- T-cell lymphoma Enthesitis-related arthritis 1939 Envenomization by bothrops lanceolatus Eosinophilic esophagitis Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

20 3165 Eosinophilic fasciitis 2070 Eosinophilic gastroenteritis Eosinophilic granuloma Ependymoblastoma Ependymoma Epiblepharon Epibulbar lipodermoid - preauricular appendage - polythelia Epidemic typhus 2694 Epidermal nevus - vitamin D resistant rickets Epidermal nevus 302 Epidermodysplasia verruciformis 257 Epidermolysis bullosa simplex - limb girdle muscular dystrophy Epidermolysis bullosa simplex - pyloric atresia Epidermolysis bullosa simplex due to plakophilin Epidermolysis bullosa simplex superficialis 2325 Epidermolysis bullosa simplex with anodontia/hypodontia Epidermolysis bullosa simplex with migratory circinate erythema Epidermolysis bullosa simplex with mottled pigmentation Epidermolysis bullosa simplex, Dowling- Meara Epidermolysis bullosa simplex, Köbner Epidermolysis bullosa simplex, Ogna Epidermolysis bullosa simplex, Weber- Cockayne Epidermolysis bullosa, dystrophic, nails only 304 Epidermolytic epidermolysis bullosa 312 Epidermolytic ichthyosis Epignathus 1948 Epilepsy - microcephaly - skeletal dysplasia 1951 Epilepsy telangiectasia Epilepsy with myoclonic absences 1942 Epilepsy with myoclonic-astatic seizures 1819 Epimetaphyseal skeletal dysplasia 1825 Epiphyseal dysplasia - hearing loss - dysmorphism Episodic ataxia Episodic ataxia Episodic ataxia Episodic ataxia Episodic ataxia Episodic ataxia Episodic choreoathetosis/spasticity Epispadias Epithelial recurrent erosion dystrophy Epithelio-exfoliative colitis - deafness Epithelioid hemangioendothelioma Epithelioid sarcoma Epithelioid trophoblastic tumor 1019 Epstein Epstein-Barr Virus-positive diffuse large B cell lymphoma of the elderly Erdheim-Chester disease 999 Ermine pheno 222 Erosive pustular dermatosis of the scalp Erythema elevatum diutinum Erythema palmaris hereditarium 314 Erythroderma desquamativa 315 Erythrokeratoderma "en cocardes" 1955 Erythrokeratodermia - ataxia 317 Erythrokeratodermia variabilis Erythrokeratodermia variabilis, Kamouraska 1956 Erythromelalgia Erythropoietic protoporphyria Erythropoietic uroporphyria associated with myeloid malignancy Escobar Esophageal adenocarcinoma 1199 Esophageal atresia Esophageal carcinoma Esophageal duplication cyst Esophageal squamous cell carcinoma Essential iris atrophy 3318 Essential thrombocythemia 1957 Esthesioneuroblastoma 785 Estrogen resistance Ethylene glycol poisoning 942 Ethylmalonic aciduria Ethylmalonic encephalopathy Euryblepharon 1959 Evans 319 Ewing sarcoma Exercise-induced hyperinsulinism Exfoliative ichthyosis 1962 Exostoses - anetodermia - brachydactyly E 322 Exstrophy-epispadias complex 3294 Extensor tendons of finger anomalies External auditory canal aplasia/hypoplasia Extracranial embryonal carcinoma Extracutaneous mastocytoma Extralobar congenital pulmonary sequestration 2800 Extramammary Paget disease Extramedullary soft tissue plasmacytoma Extraneural perineurioma Extranodal nasal NK/T cell lymphoma Extraskeletal myxoid chondrosarcoma 1964 Extrasystoles - short stature - hyperpigmentation - microcephaly Extraventricular neurocytoma 2725 Eye defects - arachnodactyly - cardiopathy 3172 Eyebrow duplication - syndactyly 324 Fabry disease 1969 Faces 1167 Facial asymmetry - temporal seizures Facial dermoid cyst 1970 Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation 1778 Facial dysmorphism - shawl scrotum - joint laxity 1807 Facial ectodermal dysplasia Facial onset sensory and motor neuronopathy 1973 Faciocardiorenal 269 Facioscapulohumeral dystrophy 1976 Facio-skeletal-genital, Rippberger 1977 Facio-thoraco-genital Faisalabad histiocytosis 3304 Fallot complex - intellectual deficit - growth delay 86 Familial abdominal aortic aneurysm Familial acute necrotizing encephalopathy 733 Familial adenomatous polyposis Familial adenomatous polyposis due to 5q22.2 microdeletion Familial adrenal hypoplasia Familial advanced sleep-phase Familial afibrinogenemia Familial Alzheimer-like prion disease Familial amyloid polyneuropathy Familial amyloidosis, Finnish Familial anetoderma Familial angiolipomatosis Familial angioma serpiginosum 229 Familial aortic dissection 1416 Familial articular chondrocalcinosis Familial articular chondrocalcinosis Familial articular chondrocalcinosis Familial atrial fibrillation 615 Familial atrial myxoma Familial atypical cold urticaria Familial avascular necrosis of femoral head 2841 Familial benign chronic pemphigus 1551 Familial benign Copper Familial capillary hemangioma 1768 Familial caudal dysgenesis Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

21 Familial cerebral saccular aneurysm Familial cerebral vascular accident 1428 Familial chondromalacia patellae Familial clubfoot due to 17q23.1q23.2 microduplication Familial clubfoot due to 5q31 microdeletion Familial clubfoot due to PITX1 point mutation Familial clubfoot with or without associated lower limb anomalies Familial cold urticaria Familial combined hyperlipoproteinemia Familial congenital mirror movements Familial congenital palsy of trochlear nerve Familial cutaneous collagenoma 211 Familial cylindromatosis Familial dementia, British Familial dementia, Danish 1799 Familial developmental dysphasia Familial digital arthropathy-brachydactyly Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial drusen Familial Dupuytren contracture 1764 Familial dysautonomia Familial dysfibrinogenemia Familial encephalopathy with neuroserpin inclusion bodies Familial esophageal achalasia Familial expansile osteolysis 891 Familial exudative vitreoretinopathy Familial gastric cancer Familial generalized lentiginosis Familial gestational hyperthyroidism 361 Familial glucocorticoid 540 Familial hemophagocytic lymphohistiocytosis 403 Familial hyperaldosteronism Familial hyperaldosteronism Familial hyperaldosteronism Familial hypercholanemia Familial hyperreninemic hypoaldosteronism Familial hyperreninemic hypoaldosteronism Familial hyperthyroidism due to mutations in TSH receptor 427 Familial hypoaldosteronism 405 Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia Familial hypodysfibrinogenemia Familial hypofibrinogenemia 2196 Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement Familial hypomagnesemia with hypercalciuria and nephrocalcinosis 440 Familial hypospadias 1677 Familial idiopathic dilatation of the right atrium 656 Familial idiopathic steroid-resistant nephrotic Familial idiopathic steroid-resistant nephrotic with diffuse mesangial proliferation Familial idiopathic steroid-resistant nephrotic with diffuse mesangial sclerosis Familial idiopathic steroid-resistant nephrotic with focal segmental hyalinosis Familial idiopathic steroid-resistant nephrotic with minimal changes Familial infantile bilateral striatal necrosis Familial infantile gigantism 2454 Familial intestinal malrotation - facial anomalies Familial isolated arrhythmogenic right ventricular dysplasia Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, left dominant form Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Familial isolated clinodactyly of fingers Familial isolated congenital asplenia 154 Familial isolated dilated cardiomyopathy Familial isolated hyperparathyroidism 2238 Familial isolated hypoparathyroidism 2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Familial isolated hypoparathyroidism due to impaired PTH secretion Familial isolated restrictive cardiomyopathy Familial juvenile hypertrophy of the breast Familial juvenile hyperuricemic nephropathy Familial keratoacanthoma Familial keratoconus with cataract 3267 Familial lambdoid synostosis Familial LCAT 523 Familial leiomyomatosis 768 Familial long QT 342 Familial mediterranean fever Familial medullary thyroid carcinoma 618 Familial melanoma Familial mesial temporal lobe epilepsy with febrile seizures 741 Familial mitral valve prolapse Familial multinodular goiter 338 Familial multiple fibrofolliculoma Familial multiple lipomatosis Familial multiple meningioma 867 Familial multiple trichoepithelioma 922 Familial nasal acilia Familial ocular anterior segment mesenchymal dysgenesis Familial omphalocele with facial dysmorphism 569 Familial or sporadic hemiplegic migraine Familial osteochondritis dissecans 2769 Familial osteodysplasia, Anderson Familial otodentodysplasia 1333 Familial pancreatic carcinoma Familial papillary renal cell carcinoma Familial parathyroid adenoma Familial Parkinson's disease dementia 97 Familial paroxysmal ataxia 309 Familial partial epilepsy Familial partial epilepsy with variable focus Familial partial lipodystrophy associated with PLIN1 mutations Familial partial lipodystrophy associated with PPARG mutations Familial partial lipodystrophy due to AKT2 mutations 2348 Familial partial lipodystrophy, Dunnigan Familial partial lipodystrophy, Köbberling Familial platelet with predisposition to acute myelogenous leukemia Familial porencephaly 2207 Familial primary hyperparathyroidism Familial primary hypomagnesemia 2257 Familial primary pulmonary hypoplasia 1767 Familial progressive vestibulocochlear dysfunction 871 Familial progressive cardiac conduction defect Familial progressive hyper- and hypopigmentation Familial progressive hyperpigmentation Familial prolactinoma 1331 Familial prostate cancer Familial pseudohyperkalemia Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

22 Familial pseudohyperkalemia Familial pseudohyperkalemia Familial pseudohyperkalemia, Cardiff Familial pure proximal renal tubular acidosis Familial reactive perforating collagenosis 2809 Familial recurrent peripheral facial palsy Familial renal amyloidosis Familial renal amyloidosis due to Apolipoprotein AI variant Familial renal amyloidosis due to Apolipoprotein AII variant Familial renal amyloidosis due to fibrinogen A alpha-chain variant Familial renal amyloidosis due to lysozyme variant 151 Familial renal cell carcinoma Familial restrictive cardiomyopathy Familial restrictive cardiomyopathy Familial restrictive cardiomyopathy Familial retinal arterial macroaneurysm Familial rhabdoid tumor Familial scaphocephaly, McGillivray 3135 Familial Scheuermann disease Familial segmental neurofibromatosis Familial short QT Familial sinus histiocytosis with massive lymphadenopathy 685 Familial spastic paraplegia Familial spinal neurofibromatosis 2903 Familial spontaneous pneumothorax Familial steroid-resistant nephrotic with sensorineural deafness 2456 Familial supernumerary nipples 2398 Familial symmetric lipomatosis Familial temporal epilepsy Familial thoracic aortic aneurysm Familial thrombocytosis 3324 Familial thrombomodulin anomalies Familial thyroglossal duct cyst Familial thyroid dyshormonogenesis 2948 Familial triphalangeal thumbs - big toes duplication Familial vascular leukoencephalopathy Familial vesicoureteral reflux 2604 Familial visceral myopathy 84 Fanconi anemia 1981 Fanconi - ichthyosis - dysmorphism 333 Farber lipogranulomatosis Farmer's lung disease FASTKD2-related infantile mitochondrial encephalomyopathy 466 Fatal familial insomnia 1561 Fatal infantile cytochrome C oxidase Fatal infantile encephalopathy-pulmonary hypertension Fatal infantile hypertonic myofibrillar myopathy Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I 17 Fatal infantile lactic acidosis with methylmalonic aciduria Fatal mitochondrial disease due to combined oxidative phosphorylation Fatal multiple mitochondrial dysfunction 1984 Fechtner 1305 Feingold Felty Female restricted epilepsy with intellectual deficit 1987 Femoral agenesis/hypoplasia Femoral agenesis/hypoplasia, bilateral Femoral agenesis/hypoplasia, unilateral 1988 Femoral-facial 2019 Femur-fibula-ulna complex 994 Fetal akinesia deformation sequence 1915 Fetal alcohol 853 Fetal and neonatal alloimmune thrombocytopenia 1665 Fetal brain disruption sequence 294 Fetal cytomegalovirus Fetal Gaucher disease 1912 Fetal hydantoin 1910 Fetal iodine 1055 Fetal left ventricular aneurysm Fetal lung interstitial tumor 1917 Fetal methylmercury 1918 Fetal minoxidil 295 Fetal parvovirus 1913 Fetal trimethadione 1906 Fetal valproate 291 Fetal varicella Fever-induced resistant epilepsy in school-age children FG Fibrillary astrocytoma Fibrocalculous pancreatopathy 2021 Fibrochondrogenesis 337 Fibrodysplasia ossificans progressiva 336 Fibromuscular dysplasia of arteries Fibronectin glomerulopathy 2030 Fibrosarcoma 249 Fibrous dysplasia of bone 2639 Fibular aplasia - complex brachydactyly 1118 Fibular aplasia - ectrodactyly 1757 Fibular dimelia - diplopodia Fibular hemimelia Fibular hemimelia, bilateral Fibular hemimelia, unilateral 2256 Fibulo-ulnar hypoplasia - renal anomalies 2034 Filariasis 3255 Filippi 1272 Fine-Lubinsky Fingerprint body myopathy First branchial cleft anomaly Fish-eye disease Fixed pigmented erythema 3092 Fixed subaortic stenosis 1968 Flat face - microstomia - ear anomaly Fleck corneal dystrophy 2044 Floating-Harbor Florid cemento-osseous dysplasia 2045 FLOTCH 2047 Flynn-Aird 1009 Focal alopecia congenital megalencephaly 2092 Focal dermal hypoplasia 1866 Focal dystonia Focal facial dermal dysplasia Focal myositis Foix-Alajouanine 2048 Foix-Chavany-Marie Folinic acid-responsive seizures Follicular atrophoderma-basal cell carcinoma Follicular cholangitis and pancreatitis Follicular dendritic cell sarcoma 2112 Follicular hamartoma - alopecia - cystic fibrosis 459 Follicular ichthyosis 545 Follicular lymphoma Folliculotropic mycosis fungoides Foodborne botulism Formiminoglutamic aciduria 3219 Fountain Fourth branchial cleft anomaly 2253 Foveal hypoplasia - presenile cataract Fowler 908 Fragile X Fragile X-associated tremor/ataxia Frank-Ter Haar 2052 Fraser 2051 Fraser-like Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

23 347 Frasier FRAXE intellectual FRAXF 834 Free sialic acid storage disease 2053 Freeman-Sheldon Fried 95 Friedreich ataxia 96 Friedreich-like ataxia with selective vitamin E Fried's tooth and nails 1931 Frontal encephalocele Frontal fibrosing alopecia 1791 Fronto-facio-nasal dysostosis 1826 Frontometaphyseal dysplasia Frontonasal arteriovenous malformation 250 Frontonasal dysplasia 1828 Frontonasal dysplasia - Klippel-Feil Frontonasal dysplasia with alopecia and genital anomaly 282 Frontotemporal dementia Frontotemporal dementia with motor neuron disease 469 Fructose intolerance 348 Fructose-1,6-bisphosphatase 2056 Fructosuria 2059 Fryns 2058 Fryns-Smeets-Thiry FTH1-related iron overload Fuchs endothelial corneal dystrophy Fuchs heterochromic iridocyclitis 349 Fucosidosis 2854 Fuhrmann 2060 Fukuda-Miyanomae-Nakata Fulminant viral hepatitis 24 Fumaric aciduria Fundus albipunctatus Fundus pulverulentus 2061 Fuqua-Berkovitz 591 Furuncular myiasis Fusariosis 2287 Fused mandibular incisors Gaisbock Galactokinase Galactose epimerase 352 Galactosemia 351 Galactosialidosis Gall-bladder endocrine tumor 2065 Galloway-Mowat 2066 Gamma aminobutyric acid transaminase Gamma heavy-chain disease Gamma-glutamyl transpeptidase Gamma-glutamylcysteine synthetase Gangliocytoma Ganglioglioma Ganglioneuroblastoma Ganglioneuroma 2067 GAPO Gardner Gastric cancer Gastric endocrine tumor Gastric linitis plastica 2069 Gastrocutaneous Gastrointestinal stromal tumor 2368 Gastroschisis 355 Gaucher disease 2072 Gaucher disease - ophthalmoplegia - cardiovascular calcification Gaucher disease Gaucher disease Gaucher disease Gelatinous drop-like corneal dystrophy 2623 Geleophysic dysplasia 2074 Gemignani Gemistocytic astrocytoma Generalized arterial calcification of infancy Generalized basaloid follicular hamartoma Generalized congenital lipodystrophy with myopathy Generalized epilepsy - paroxysmal dyskinesia Generalized epilepsy and praxis-induced seizures Generalized epilepsy with febrile seizuresplus context Generalized eruptive histiocytosis Generalized essential telangiectasia Generalized junctional epidermolysis bullosa, non-herlitz Generalized peeling skin Generalized peeling skin A Generalized peeling skin B Generalized peeling skin C Generalized pseudohypoaldosteronism Generalized pustular psoriasis 3221 Generalized resistance to thyroid hormone Genetic hair anomaly Genetic hyperferritinemia without iron overload Genetic recurrent myoglobinuria Genetic susceptibility to infections caused by BCG and atypical mycobacteria Genetic transient congenital hypothyroidism Genetic urticaria 2075 Genito-palato-cardiac Genitopatellar Genochondromatosis Genochondromatosis Gerbode defect 2077 German Germinoma of the central nervous system 2078 Geroderma osteodysplastica Gerstmann 356 Gerstmann-Straussler-Scheinker Gestational choriocarcinoma Gestational trophoblastic neoplasm 1802 Ghosal hematodiaphyseal dysplasia Giant adenofibroma of the breast 643 Giant axonal neuropathy 397 Giant cell arteritis Giant cell glioblastoma Giant infantile hemangioma Gigantism 2027 Gingival fibromatosis - progressive deafness 2025 Gingival fibromatosis - facial dysmorphism 2026 Gingival fibromatosis - hypertrichosis Gingival fibromatosis - sparse hair - malposistion of teeth 358 Gitelman 849 Glanzmann thrombasthenia Glassy cell carcinoma of the cervix uteri 2084 Glaucoma - ectopia - microspherophakia - stiff joints - short stature 2085 Glaucoma - sleep apnea 360 Glioblastoma Glioependymal/ependymal cyst Gliomatosis cerebri Gliosarcoma Global developmental delay - osteopenia - ectodermal defect Globozoospermia 2087 Glomerulonephritis - sparse hair - telangiectasis Glomuvenous malformation Glossopalatine ankylosis Glossopharyngeal neuralgia Glucagonoma 786 Glucocorticoid resistance Glucose transporter Glucose-galactose malabsorption Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

24 25 Glutaric acidemia Glutaric acidemia Glutaric acidemia 3 32 Glutathione synthetase Glutathione synthetase with 5-oxoprolinuria Glutathione synthetase without 5-oxoprolinuria 408 Glycerol kinase 367 Glycogen branching enzyme 366 Glycogen debranching enzyme Glycogen storage disease due to LAMP Glycogen storage disease due to liver and muscle phosphorylase kinase Glycogen storage disease due to liver phosphorylase kinase 715 Glycogen storage disease due to muscle phosphorylase kinase 370 Glycogen storage disease due to phosphorylase kinase 365 Glycogen storage disease Glycogen storage disease Glycogen storage disease Glycogenosis due to glucose-6- phosphatase Glycogenosis due to glucose-6- phosphatase a Glycogenosis due to glucose-6- phosphatase b 354 GM1 gangliosidosis GM1 gangliosidosis GM1 gangliosidosis GM1 gangliosidosis GMS Gnathodiaphyseal dysplasia Goldberg-Shprintzen megacolon Goldblatt 374 Goldenhar Goldmann-Favre 1986 Gollop-Wolfgang complex 1770 Gonadal dysgenesis, XY - associated anomalies Gonadotroph adenoma 1482 Gonococcal conjunctivitis Good Goodman 375 Goodpasture 376 Gordon 73 Gorham-Stout disease 377 Gorlin 2095 Gorlin-Chaudhry-Moss GRACILE Graft rejection after lung transplantation Graft rejection during pancreatic islet transplantation Graft versus host disease 505 Graham Little-Piccardi-Lassueur Grange 2097 Grant Granular corneal dystrophy I Granular corneal dystrophy II Granulomatous mastitis Granulomatous slack skin Granulosa cell malignant tumor Gräsbeck-Imerslund disease 721 Gray platelet Grayson-Wilbrandt corneal dystrophy 1426 Greenberg dysplasia 380 Greig cephalopolysyndactyly 495 Greither's disease GRFoma 381 Griscelli disease Griscelli disease Griscelli disease Griscelli disease Grix-Blankenship-Peterson 2055 Growth - brachydactyly - dysmorphism 3035 Growth delay - hydrocephaly - lung hypoplasia Growth delay due to insulin-like growth factor I Growth delay due to insulin-like growth factor I resistance 2101 Grubben-de Cock-Borghgraef 2102 GTP cyclohydrolase I 382 Guanidinoacetate methyltransferase 2103 Guillain-Barré 383 Gusher 2957 Guttmacher Gynandroblastoma 414 Gyrate atrophy of choroid and retina H Haddad 2342 Haim-Munk 1408 Hair defect - photosensitivity - intellectual deficit Hairy cell leukemia Hairy cell leukemia variant 2109 Hallermam-Streiff like 2108 Hallermann-Streiff-François 2107 Hall-Riggs 2110 Hallux varus - preaxial polysyndactyly Hamel cerebro-palato-cardiac 2438 Hand-foot-genital Hand-Schüller-Christian disease 1177 Harding ataxia 457 Harlequin ichthyosis Harlequin 2115 Harrod 2116 Hartnup 2117 Hartsfield-Bixler-Demyer Hashimoto-Pritzker 2118 Hawkinsinuria 3225 Hearing loss - familial salivary gland insensitivity to aldosterone 1355 Heart defect - round face - congenital developmental delay 1338 Heart defect - tongue hamartoma - polysyndactyly 1354 Heart defects - limb shortening 875 Heart tumor of the child 1350 Heart-hand Heart-hand Heart-hand, Slovenian Heavy chain deposition disease Heavy-chain disease 2119 HEC 2120 Heckenlively Heiner Heinz body anemia Helicoid peripapillary chorioretinal degeneration Hemangioblastoma 2126 Hemangiopericytoma Hematopoietic cell transplantation Hemiconvulsion-Hemiplegia-Epilepsy Hemifacial hypertrophy Hemifacial microsomia Hemifacial myohyperplasia Hemihyperplasia-multiple lipomatosis 2128 Hemihypertrophy 2129 Hemihypertrophy intestinal web corneal opacity Hemimegalencephaly Hemochromatosis Hemochromatosis Hemochromatosis Hemoglobin C - beta-thalassemia 2132 Hemoglobin C disease Hemoglobin D disease Hemoglobin E - beta-thalassemia 2133 Hemoglobin E disease Hemoglobin H disease Hemoglobinopathy Toms River Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

25 86817 Hemolytic anemia due to adenylate kinase 714 Hemolytic anemia due to diphosphoglycerate mutase Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hemolytic anemia due to erythrocyte enolase 712 Hemolytic anemia due to glucophosphate isomerase Hemolytic anemia due to glutathione reductase Hemolytic anemia due to glyceraldehyde- 3-phosphate dehydrogenase Hemolytic anemia due to pyrimidine 5' nucleotidase 766 Hemolytic anemia due to red cell pyruvate kinase Hemolytic disease of the newborn with Kell allo-immunization 448 Hemophilia Hemophilia A Hemophilia B Hemorrhagic disease due to alpha-1 antitrypsin Pittsburgh mutation 340 Hemorrhagic fever - renal 2136 Hennekam 2135 Hennekam-Beemer 761 Henoch-Schönlein purpura 3325 Heparin-induced thrombocytopenia Hepatic amyloidosis with intrahepatic cholestasis 386 Hepatic cystic hamartoma Hepatic endocrine tumor 2031 Hepatic fibrosis - renal cysts - intellectual deficit 2089 Hepatic glycogen synthase 890 Hepatic veno-occlusive disease Hepatic veno-occlusive disease - immuno Hepatitis B re-infection following liver transplantation 449 Hepatoblastoma Hepatocellular adenoma Hepatocellular carcinoma Hepatocellular carcinoma, childhoodonset Hepatoencephalopathy due to combined oxidative phosphorylation Hepatoerythropoietic porphyria Hepatoportal sclerosis Hepatosplenic T-cell lymphoma 2907 Hereditary acrokeratotic poikiloderma, Weary Hereditary amyloid precursor protein angiopathy Hereditary angioedema Hereditary angioedema Hereditary angioedema Hereditary angioedema Hereditary arterial and articular multiple calcification 145 Hereditary breast and ovarian cancer Hereditary breast cancer Hereditary cerebral cavernous malformation Hereditary cerebral hemorrhage with amyloidosis Hereditary cerebral hemorrhage with amyloidosis, Dutch Hereditary cerebral hemorrhage with amyloidosis, Icelandic 676 Hereditary chronic pancreatitis Hereditary combined of vitamin K-dependent clotting factors 972 Hereditary continuous muscle fiber activity Hereditary coproporphyria Hereditary cryohydrocytosis with reduced stomatin Hereditary cystatin C amyloid angiopathy 288 Hereditary elliptocytosis Hereditary folate malabsorption Hereditary geniospasm 359 Hereditary glaucoma Hereditary hypercarotenemia and vitamin A 3197 Hereditary hyperekplexia 163 Hereditary hyperferritinemia with congenital cataracts Hereditary hypophosphatemic rickets with hypercalciuria Hereditary hypotrichosis with recurrent skin vesicles Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia Hereditary inclusion body myositis 621 Hereditary methemoglobinemia Hereditary mixed polyposis Hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy Hereditary motor and sensory neuropathy, Okinawa 1839 Hereditary mucoepithelial dysplasia 2590 Hereditary myoclonus - progressive distal muscular atrophy Hereditary myopathy with early respiratory failure Hereditary neuralgic amyotrophy 1062 Hereditary neurocutaneous angioma 640 Hereditary neuropathy with liability to pressure palsies Hereditary neutrophilia 144 Hereditary nonpolyposis colon cancer Hereditary North American Indian childhood cirrhosis 30 Hereditary orotic aciduria Hereditary painful callosities Hereditary palmoplantar keratoderma, Gamborg-Nielsen Hereditary persistence of alphafetoprotein Hereditary persistence of fetal hemoglobin - beta-thalassemia Hereditary persistence of fetal hemoglobin - sickle cell disease Hereditary pheochromocytomaparaganglioma Hereditary progressive mucinous histiocytosis 2338 Hereditary punctate palmoplantar keratoderma Hereditary pyropoikilocytosis Hereditary renal hypouricemia 788 Hereditary resistance to anti-vitamin K Hereditary sclerosing poikiloderma Weary Hereditary sclerosing poikiloderma with tendon and pulmonary involvement Hereditary sensorimotor neuropathy with hyperelastic skin Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy 1B 970 Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy with deafness and global delay Hereditary sensory and autonomic neuropathy with spastic paraplegia Hereditary site-specific ovarian cancer 822 Hereditary spherocytosis Hereditary thermosensitive neuropathy Hereditary thrombocytopenia with normal platelets 82 Hereditary thrombophilia due to congenital antithrombin Hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

26 745 Hereditary thrombophilia due to congenital protein C 743 Hereditary thrombophilia due to congenital protein S Hereditary vascular retinopathy 3467 Hereditary xanthinuria Heritable pulmonary arterial hypertension Hermansky-Pudlak Hermansky-Pudlak Hermansky-Pudlak Hermansky-Pudlak Hermansky-Pudlak with neutropenia Hermansky-Pudlak with pulmonary fibrosis Hermansky-Pudlak without pulmonary fibrosis 2139 Hernandez-Aguirre Negrete HERNS Herpes simplex virus keratitis 1930 Herpetic encephalitis Herpetiform pemphigus 450 Heterotaxia 1808 Hidrotic ectodermal dysplasia, Christianson-Fourie 1809 Hidrotic ectodermal dysplasia, Halal High-grade dysplasia in patients with Barrett esophagus Hinman's 2114 Hip dysplasia, Beukes Hippocampal tauopathy in cerebral aging 388 Hirschsprung disease 2155 Hirschsprung disease - deafness - polydactyly 2151 Hirschsprung disease - ganglioneuroblastoma 2153 Hirschsprung disease - nail hypoplasia - dysmorphism 2150 Hirschsprung disease - D brachydactyly Hirschsprung disease with pigmentary anomaly 2156 Hirsutism - skeletal dysplasia - intellectual deficit 3283 His bundle tachycardia 2157 Histidinemia 2158 Histidinuria - renal tubular defect Histiocytic sarcoma Histiocytoid cardiomyopathy 390 Histoplasmosis 391 Hodgkin lymphoma, classical Holmes-Gang 2161 Holoacardius amorphus Holocarboxylase synthetase 2162 Holoprosencephaly 2165 Holoprosencephaly - caudal dysgenesis 2163 Holoprosencephaly - craniosynostosis 2166 Holoprosencephaly - postaxial polydactyly 3186 Holoprosencephaly - radial heart renal anomalies 392 Holt-Oram 2167 Holzgreve-Wagner-Rehder 2168 Homocarnosinosis 395 Homocystinuria due to methylenetetrahydrofolate reductase 622 Homocystinuria without methylmalonic acidemia Homozygous hereditary elliptocytosis Honey-droplet corneal dystrophy 2171 Hoon-Hall 2744 Horizontal gaze palsy with progressive scoliosis Hot water reflex epilepsy House allergic alveolitis 3322 Hoyeraal-Hreidarsson Hughes-Stovin Humeral agenesis/hypoplasia Humeral agenesis/hypoplasia, bilateral Humeral agenesis/hypoplasia, unilateral 3265 Humeroradial synostosis Humero-radial synostosis, bilateral Humero-radial synostosis, unilateral 3266 Humeroradioulnar synostosis Humero-radio-ulnar synostosis, bilateral Humero-radio-ulnar synostosis, unilateral Humeroulnar synostosis Humero-ulnar synostosis, bilateral Humero-ulnar synostosis, unilateral 3383 Humerus trochlea aplasia Hunter-McAlpine craniosynostosis 399 Huntington disease Huntington disease-like Huntington disease-like Huntington disease-like Hurler Hurler-Scheie 740 Hutchinson-Gilford progeria Hyaline body myopathy Hyaluronidase Hydatidiform complete mole Hydatidiform mole Hydatidiform partial mole 400 Hydatidosis 2177 Hydranencephaly 2186 Hydrocephalus - blue sclerae - nephropathy 2180 Hydrocephalus - costovertebral dysplasia - Sprengel anomaly 2183 Hydrocephalus - obesity - hypogonadism 2182 Hydrocephalus with stenosis of aqueduct of Sylvius 2184 Hydrocephaly - low insertion umbilicus 2181 Hydrocephaly - tall stature - joint laxity 2189 Hydrolethalus 1041 Hydrops fetalis Hydrops fetalis of Bart 401 Hymenolepiasis 927 Hyperammonemia due to N-acetylglutamate synthetase Hyperandrogenism due to cortisone reductase Hyperbiliverdinemia Hypercholesterolemia due to cholesterol 7alpha-hydroxylase Hypercoagulability due to glycosylphosphatidylinositol 1032 Hyperdibasic aminoaciduria Hyperekplexia - epilepsy Hypereosinophilic s 2410 Hypergonadotropic hypogonadism - cataract Hyper-IgM Hyper-IgM Hyper-IgM Hyper-IgM Hyperimmunoglobulinemia D with periodic fever Hyperinsulinism due to 3-hydroxylacyl- CoA dehydrogenase Hyperinsulinism due to glucokinase Hyperinsulinism due to HNF4A Hyperinsulinism due to INSR Hyperinsulinism due to UCP Hyperinsulinism-hyperammonemia 682 Hyperkalemic periodic paralysis Hyperkalemic renal tubular acidosis 1336 Hyperkeratosis - hyperpigmentation 409 Hyperkeratosis lenticularis perstans Hyperlipidemia due to hepatic triglyceride lipase 412 Hyperlipidemia Hyperlipoproteinemia Hyperlipoproteinemia Hyperlipoproteinemia Hyperlysinemia Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

27 Hypermethioninemia due to glycine N-methyltransferase Hypermethioninemia encephalopathy due to adenosine kinase Hypernychthemeral 415 Hyperornithinemia-hyperammonemiahomocitrullinuria 3416 Hyperostosis corticalis generalisata 416 Hyperoxaluria Hyperoxaluria non1-non Hyperparathyroidism - jaw tumor Hyperphalangy Hyperphalangy, bilateral Hyperphalangy, unilateral Hyperphenylalaninemia Hyperphosphatasia intellectual Hyperplastic polyposis 419 Hyperprolinemia Hyperprolinemia II Hypersensitivity pneumonitis 2211 Hypertelorism - hypospadias - polysyndactyly 1519 Hypertelorism, Teebi Type 2213 Hypertelorism-microtia-facial clefting Hypertelorism-preauricular sinus-punctual pits-deafness 2220 Hypertrichosis cubiti - short stature 2222 Hypertrichosis lanuginosa congenita 2765 Hypertrichotic osteochondrodysplasia Hypertrophic cardiomyopathy due to intensive athletic training Hypertrophic or verrucous lupus erythematosus 2224 Hypertryptophanemia Hyperuricemia - anemia - renal failure Hypnic headache Hypocalcemic vitamin D dependent rickets Hypocalcemic vitamin D resistant rickets Hypocalcified amelogenesis imperfecta Hypochondrogenesis 429 Hypochondroplasia Hypocomplementemic leucocytoclasic vasculitis 430 Hypodermyiasis 2228 Hypodontia - dysplasia of nails 989 Hypoglossia - hypodactyly 2233 Hypogonadism - mitral valve prolapse - intellectual deficit 2230 Hypogonadotropic hypogonadism - frontoparietal alopecia 2235 Hypogonadotropic hypogonadism - retinitis pigmentosa Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing lossdysmorphism Hypohidrotic ectodermal dysplasia 1882 Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia Hypohidrotic ectodermal dysplasia - mydriasis -iris atrophy - intellectual deficit Hypohidrotic ectodermal dysplasia with focal sweating Hypohidrotic ectodermal dysplasia with immuno Hypohidrotic ed with papillomas and achantosis nigricans Hypoinsulinemic hypoglycemia and body hemihypertrophy 681 Hypokalemic periodic paralysis Hypomagnesemia caused by selective magnesium malabsorption Hypomagnesemia with normocalciuria 1790 Hypomandibular faciocranial dysostosis Hypomaturation amelogenesis imperfecta Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 2435 Hypomelanotic and hypermelanotic cutaneous macules - retarded growth - intellectual Hypomyelination - congenital cataract Hypomyelination - hypogonadotropic hypogonadism - hypodontia 2680 Hypomyelination neuropathy - arthrogryposis Hypomyelination with atrophy of basal ganglia and cerebellum 2237 Hypoparathyroidism - deafness - renal disease 436 Hypophosphatasia 2626 Hypopituitarism - short stature - skeletal anomalies Hypoplasia of the mitral valve annulus 722 Hypoplasminogenemia Hypoplastic amelogenesis imperfecta 2248 Hypoplastic left heart Hypoplastic pancreas-intestinal atresiahypoplastic gallbalder 3332 Hypoplastic tibiae - post axial polydactyly 2250 Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism 2261 Hypospadias - intellectual deficit, Goldblatt Hypospadias-hypertelorism-coloboma and deafness Hypothalamic hamartomas with gelastic seizures Hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism due to TSH receptor mutations Hypotonia - cystinuria Hypotonia - failure to thrive - microcephaly Hypotonia with lactic acidemia and hyperammonemia Hypotrichosis - lymphedema - telangiectasia Hypotrichosis - pili bifurcati Hypotrichosis simplex Hypotrichosis simplex of the scalp 1573 Hypotrichosis with juvenile macular degeneration 2266 Hypotrichosis-intellectual deficit, Lopes Iatrogenic botulism Iatrogenic Cushing 453 IBIDS ICCA 2268 ICF 2269 Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit 2274 Ichthyosis - hepatosplenomegaly - cerebellar degeneration Ichthyosis - hypotrichosis - sclerosing cholangitis 2278 Ichthyosis - intellectual deficit - dwarfism - renal impairment 431 Ichthyosis - male hypogonadism 2272 Ichthyosis - oral and digital anomalies 2270 Ichthyosis congenita - biliary atresia Ichthyosis Curth-Macklin 2273 Ichthyosis follicularis - alopecia - photophobia Ichthyosis hypotrichosis 458 Ichthyosis hystrix Ichthyosis hystrix gravior 2277 Ichthyosis microphthalmos Ichthyosis prematurity 2267 Ichthyosis-cheek-eyebrow 930 Idiopathic achalasia Idiopathic acquired central diabetes insipidus 724 Idiopathic acute eosinophilic pneumonia Idiopathic acute transverse myelitis 422 Idiopathic and/or familial pulmonary arterial hypertension Idiopathic anterior uveitis 88 Idiopathic aplastic anemia Idiopathic bilateral vestibulopathy Idiopathic bronchiectasis Idiopathic CD4 lymphocytopenia Idiopathic central precocious puberty Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

28 2902 Idiopathic chronic eosinophilic pneumonia Idiopathic congenital hypothyroidism Idiopathic copper-associated cirrhosis Idiopathic cutaneous and mucosal candidiasis Idiopathic eosinophilic myositis 2810 Idiopathic facial palsy Idiopathic hydrops fetalis 2197 Idiopathic hypercalciuria 3260 Idiopathic hypereosinophilic Idiopathic hypersomnia Idiopathic hypersomnia with long sleep time Idiopathic hypersomnia without long sleep time Idiopathic infection disseminated by cytomegalovirus Idiopathic intracranial hypertension Idiopathic juvenile osteoporosis Idiopathic localized lipodystrophy Idiopathic malabsorption due to bile acid synthesis defects Idiopathic membranous glomerulonephritis Idiopathic neonatal atrial flutter Idiopathic panuveitis Idiopathic posterior uveitis 747 Idiopathic pulmonary alveolar proteinosis Idiopathic pulmonary arterial hypertension 2032 Idiopathic pulmonary fibrosis Idiopathic pulmonary hemosiderosis Idiopathic recurrent and disabling cutaneous herpes Idiopathic recurrent pericarditis Idiopathic recurrent stupor Idiopathic severe pneumococcemia Idiopathic short stature Idiopathic steroid-sensitive nephrotic Idiopathic steroid-sensitive nephrotic with diffuse mesangial proliferation Idiopathic steroid-sensitive nephrotic with focal segmental hyalinosis Idiopathic steroid-sensitive nephrotic with minimal change Idiopathic syringomyelia Idiopathic uveal effusion Idiopathic ventricular fibrillation, not Brugada Ileal endocrine tumor Ileal pouch anal anastomosis related faecal incontinence IMAGe Iminoglycinuria 3002 Immune thrombocytopenic purpura Immuno by defective expression of HLA class Immuno by defective expression of HLA class Immuno due to a late component of complements Immuno due to absence of thymus Immuno due to an early component of complement Immuno due to CD Immuno due to interleukin-1 receptor-associated kinase Immuno due to selective antipolysaccharide antibody Immuno with factor H anomaly Immuno with factor I anomaly Immuno with natural-killer cell Immunoglobulin A Immunoglobulin A Immunoglobulin G4-related sclerosing disease Immunoglobulin heavy chain Immunoproliferative small intestinal disease Immunotactoid glomerulopathy Immunotactoid or fibrillary glomerulopathy 2759 Imperforate oropharynx - costo vetebral anomalies Inappropriate antidiuretic hormone secretion Incessant infant ventricular tachycardia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 464 Incontinentia pigmenti Indeterminate cell histiocytosis Indian tick typhus Indolent systemic mastocytosis 1909 Indomethacin embryofetopathy Infant acute respiratory distress Infant botulism 1943 Infant epilepsy with migrant focal crisis Infantile apnea Infantile autosomal recessive medullary cystic kidney disease 2679 Infantile axonal neuropathy Infantile Bartter with deafness 1576 Infantile bilateral striatal necrosis 1313 Infantile choroido cerebral calcification Infantile digital fibromatosis Infantile dystonia-parkinsonism Infantile glycerol kinase Infantile glycine encephalopathy Infantile hypophosphatasia Infantile Krabbe disease Infantile mercury poisoning 2591 Infantile myofibromatosis Infantile neuroaxonal dystrophy Infantile neuronal ceroid lipofuscinosis Infantile onset panniculitis with uveitis and systemic granulomatosis 1186 Infantile onset spinocerebellar ataxia Infantile osteopetrosis with neuroaxonal dysplasia 772 Infantile Refsum disease Infantile regressive hypertriglyceridemia and hepatosteatosis Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease 3173 Infantile spasms - broad thumbs 1575 Infantile striato thalamic degeneration 3311 Infantile symmetrical thalamic degeneration 2176 Infantile systemic hyalinosis 1577 Infantile thalamic degenerescence Infantile-onset ascending hereditary spastic paralysis Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Infectious epithelial keratitis Infective dermatitis associated with HTLV Inferior vena cava interruption Inflammatory myofibroblastic tumor Inflammatory myopathy with abundant macrophages Inflammatory pseudotumor of the liver Infundibulo-neurohypophysitis 1849 Infundibulopelvic stenosis - multicystic kidney Inhalation anthrax disease Inhalational botulism Inherited congenital spastic tetraplegia Inherited Creutzfeldt-Jakob disease Inherited isolated adrenal insufficiency Inherited predisposition to essential thrombocythemia Iniencephaly Insulinoma 2297 Insulin-resistance A 2298 Insulin-resistance B Intellectual deficit - alacrima - achalasia 1236 Intellectual deficit - athetosismicrophthalmia Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

29 3041 Intellectual deficit - balding - patella luxation - acromicria 3042 Intellectual deficit - cataracts - calcified pinnae - myopathy Intellectual deficit - cataracts - kyphosis 3044 Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus 3048 Intellectual deficit - hypocupremia - hypobetalipoproteinemia 1495 Intellectual deficit - hypoplastic corpus callosum - preauricular tag 3050 Intellectual deficit - hypotonia - skin hyperpigmentation 3067 Intellectual deficit - microcephaly - phalangeal - facial abnormalities 3313 Intellectual deficit - microcephaly - unusual facies 3068 Intellectual deficit - myopathy - short stature - endocrine defect 3082 Intellectual deficit - polydactyly - uncombable hair 2954 Intellectual deficit - short broad thumbs 3074 Intellectual deficit - short stature - hypertelorism 3051 Intellectual deficit - sparse hair - brachydactyly 1891 Intellectual deficit - spasticity - ectrodactyly 3043 Intellectual deficit - unusual facies 3045 Intellectual deficit - unusual facies - talipes - hand anomalies Intellectual deficit, Birk-Barel 3079 Intellectual deficit, Buenos-Aires Intellectual deficit, Kahrizi 3080 Intellectual deficit, Wolff Intellectual deficit, X-linked - acromegaly - hyperactivity Intellectual deficit, X-linked - cerebellar hypoplasia Intellectual deficit, X-linked - choreoathetosis - abnormal behavior Intellectual deficit, X-linked - corpus callosum agenesis - spastic quadriparesis Intellectual deficit, X-linked - craniofacioskeletal Intellectual deficit, X-linked - cubitus valgus - dysmorphism 1568 Intellectual deficit, X-linked - Dandy- Walker malformation - basal ganglia disease - Seizures 2958 Intellectual deficit, X-linked - dysmorphism - cerebral atrophy Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior Intellectual deficit, X-linked - macrocephaly - macro-orchidism 2898 Intellectual deficit, X-linked - plagiocephaly Intellectual deficit, X-linked - precocious puberty - obesity 3077 Intellectual deficit, X-linked - psychosis - macroorchidism Intellectual deficit, X-linked - retinitis pigmentosa 3052 Intellectual deficit, X-linked - seizures - psoriasis 3055 Intellectual deficit, X-linked - short stature - obesity Intellectual deficit, X-linked - spastic quadriparesis Intellectual deficit, X-linked, Abidi Intellectual deficit, X-linked, Armfield 3056 Intellectual deficit, X-linked, Brooks Intellectual deficit, X-linked, Cantagrel Intellectual deficit, X-linked, Cilliers 3059 Intellectual deficit, X-linked, Gu Intellectual deficit, X-linked, Kroes 775 Intellectual deficit, X-linked, Martinez Intellectual deficit, X-linked, Miles- Carpenter Intellectual deficit, X-linked, Nascimento Intellectual deficit, X-linked, Pai Intellectual deficit, X-linked, Raymond 3061 Intellectual deficit, X-linked, Raynaud Intellectual deficit, X-linked, Schimke 3062 Intellectual deficit, X-linked, Schutz Intellectual deficit, X-linked, Seemanova Intellectual deficit, X-linked, Shashi Intellectual deficit, X-linked, Shrimpton Intellectual deficit, X-linked, Siderius 3063 Intellectual deficit, X-linked, Snyder Intellectual deficit, X-linked, Stevenson Intellectual deficit, X-linked, Stocco Dos Santos Intellectual deficit, X-linked, Turner Intellectual deficit, X-linked, Van Esch Intellectual deficit, X-linked, Vitale Intellectual deficit, X-linked, Wilson 3064 Intellectual deficit, X-linked, Wittner Intellectual deficit, X-linked, Wittwer Intellectual deficit, X-linked, Zorick 3046 Intellectual deficit-unusual facies, Davis- Lafer 1478 Interauricular communication Interdigitating dendritic cell sarcoma Interferon gamma receptor Intermediate DEND Intermediate maple syrup urine disease Intermediate nemaline myopathy Intermediate osteopetrosis Intermediate stomatocytosis Intermittent maple syrup urine disease 981 Internal carotid agenesis Interstitial cystitis Interstitial granulomatous dermatitis with arthritis Interventricular septum aneurysm Intestinal botulism Intestinal epithelial dysplasia Intestinal lymphangiectasia 1057 Intracranial aneurysms - multiple congenital anomalies 2449 Intracranial arteriovenous malformation Intracranial embryonal carcinoma Intractable diarrhea - choanal atresia - eye anomalies Intractable diarrhea of infancy Intrahepatic cholestasis of pregnancy Intralobar congenital pulmonary sequestration Intramural coronary arterial course Intraneural perineurioma Intraocular medulloepithelioma 3036 Intrauterine growth retardation - mandibular malar hypoplasia Intravascular large B-cell lymphoma Invasive infections due to Vancomycin Resistant Enterococci Invasive mole Inverse Marcus-Gunn phenomenon IRIDA Iridocorneal endothelial 2995 Iris coloboma with ptosis - intellectual deficit 1831 Iris dysplasia - hypertelorism - deafness IRVAN Isaac's Ischemia/perfusion injury associated with solid organ transplantation procedure Ischio-vertebral Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

30 79159 Isobutyryl-CoA dehydrogenase Isochromosome Y Isochromosomy Yp Isochromosomy Yq 6 Isolated 3-methylcrotonyl-CoA carboxylase Isolated adermatoglyphia Isolated agammaglobulinemia Isolated amyelia 1048 Isolated anencephaly/exencephaly Isolated aniridia Isolated ankyloblepharon filiforme adnatum 2542 Isolated anophthalmia - microphthalmia 557 Isolated anorectal malformation 3387 Isolated anterior cervical hypertrichosis Isolated arhinencephaly Isolated asymptomatic elevation of creatine phosphokinase Isolated ATP synthase Isolated autosomal dominant hypomagnesemia, Glaudemans Isolated bilateral hemispheric cerebellar hypoplasia Isolated bone marrow mastocytosis Isolated brachycephaly Isolated breast aplasia 1398 Isolated cerebellar hypoplasia/agenesis Isolated cerebellar vermis agenesis Isolated cerebellar vermis hypoplasia 2343 Isolated cloverleaf skull Isolated congenital alacrima Isolated congenital anosmia Isolated congenital auditory ossicle malformation Isolated congenital digital clubbing Isolated congenital ectropion Isolated congenital hypoglossia/aglossia Isolated congenital megalocornea Isolated congenital nasal pyriform aperture stenosis Isolated congenital sclerocornea Isolated congenitally uncorrected transposition of the great arteries 1460 Isolated CoQ-cytochrome C reductase Isolated cryptophthalmia Isolated cytochrome C oxidase 217 Isolated Dandy-Walker malformation Isolated Dandy-Walker malformation with hydrocephalus Isolated Dandy-Walker malformation without hydrocephalus Isolated delta-storage pool disease Isolated distichiasis Isolated dominant hypomagnesemia Isolated facial myokymia Isolated focal cortical dysplasia Isolated focal cortical dysplasia I Isolated focal cortical dysplasia Ia Isolated focal cortical dysplasia Ib Isolated focal cortical dysplasia Ic Isolated focal cortical dysplasia II Isolated focal cortical dysplasia IIa Isolated focal cortical dysplasia IIb Isolated follicle stimulating hormone Isolated growth hormone IA Isolated growth hormone IB Isolated growth hormone II Isolated growth hormone III 2345 Isolated Klippel-Feil 1084 Isolated lissencephaly 1 without known genetic defects Isolated megalencephaly Isolated micropenis 2609 Isolated NADH-CoQ reductase 407 Isolated nonketotic hyperglycinemia Isolated optic nerve hypoplasia Isolated osteopoikilosis Isolated oxycephaly Isolated partial cerebellar vermis agenesis Isolated partial vaginal agenesis 718 Isolated Pierre Robin Isolated plagiocephaly Isolated pulmonary capillaritis Isolated scaphocephaly 823 Isolated spina bifida Isolated sternocostoclavicular hyperostosis 3208 Isolated succinate-coq reductase Isolated sulfite oxidase Isolated thyroid-stimulating hormone Isolated thyrotropin-releasing hormone Isolated total cerebellar vermis agenesis 3366 Isolated trigonocephaly Isolated unilateral hemispheric cerebellar hypoplasia 472 Isosporiasis 2305 Isotretinoin 2306 Isotretinoin-like 33 Isovaleric acidemia 435 Ito hypomelanosis Ivemark 2307 IVIC 1540 Jackson-Weiss 2308 Jacobsen 1873 Jalili Japanese encephalitis Jeavons Jejunal endocrine tumor Jervell and Lange-Nielsen Jessner's lymphocytic infiltration of the skin 474 Jeune 2315 Johanson-Blizzard 475 Joubert 1454 Joubert with hepatic defect Joubert with ocular defect 2318 Joubert with oculorenal defect 2754 Joubert with orofaciodigital defect Joubert with renal defect 2319 Juberg-Hayward Juberg-Marsidi 305 Junctional epidermolysis bullosa Junctional epidermolysis bullosa - pyloric atresia Junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa, Herlitz Junctional epidermolysis bullosa, non- Herlitz 2321 Jung-Wolff-Back-Stahl 1941 Juvenile absence epilepsy Juvenile Amyotrophic lateral sclerosis Juvenile autosomal recessive medullary cystic kidney disease Juvenile cataract - microcornea - renal glucosuria 2778 Juvenile chronic recurrent multifocal osteomyelitis Juvenile dermatomyositis 2929 Juvenile gastrointestinal polyposis Juvenile glaucoma Juvenile glycerol kinase Juvenile Huntington disease 2028 Juvenile hyaline fibromatosis Juvenile myelomonocytic leukemia 307 Juvenile myoclonic epilepsy Juvenile nasopharyngeal angiofibroma Juvenile neuronal ceroid lipofuscinosis 2801 Juvenile Paget's disease Juvenile polymyositis Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

31 79076 Juvenile polyposis of infancy Juvenile primary lateral sclerosis Juvenile psoriatic arthritis Juvenile rheumatoid factor-negative polyarthritis Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies Juvenile rheumatoid factor-positive polyarthritis Juvenile sialidosis Juvenile temporal arteritis Juvenile xanthogranuloma Juxtaposition of the atrial appendages 2322 Kabuki 2324 Kaler-Garrity-Stern 478 Kallmann 2326 Kallmann - heart disease 2327 Kalyanaraman Kandori's fleck retina 2122 Kaposiform hemangioendothelioma Kaposi's sarcoma 2328 Kapur-Toriello 2329 Karsch-Neugebauer 2330 Kasabach-Merritt 2331 Kawasaki disease 2332 KBG 480 Kearns-Sayre 2662 Keipert Kelley-Seegmiller 481 Kennedy disease 2333 Kenny-Caffey Kenya tick typhus 2336 Keratoderma - hypotrichosis - leukonychia 494 Keratoderma hereditarium mutilans Keratolytic winter erythema 2339 Keratosis follicularis - dwarfism - cerebral atrophy 2340 Keratosis follicularis spinulosa decalvans Keratosis linearis - ichthyosis congenita - sclerosing keratoderma Keratosis palmaris et plantaris - clinodactyly Keratosis palmoplantaris - drumstick fingers - hypotrichosis - hypohidrosis - dental dysplasia 2198 Keratosis palmoplantaris - esophageal carcinoma Keratosis palmoplantaris maculosa, papulosa, nummularis Keratosis palmoplantaris papulosa Keratosis palmoplantaris striata 498 Keratosis pilaris atrophicans Keratosis, Nagashima- 499 Kerion celsi Ketamine-induced biliary dilatation 134 Ketoacidosis due to betaketothiolase Keutel 477 KID Kienbock disease Kikuchi-Fujimoto disease 482 Kimura disease 2908 Kindler King-Denborough Klatskin tumor Kleefstra Kleefstra due to a point mutation Kleefstra due to monosomy 9q Kleine-Levin Klippel-Trenaunay Klüver-Bucy 485 Kniest dysplasia 1571 Knobloch 2698 Knuckle pads - leuconychia - sensorineural deafness Komar Kommerell diverticulum Kostmann 2351 Kousseff 2352 Kozlowski-Brown-Hardwick 487 Krabbe disease 1801 Kyphomelic dysplasia 1559 Kyphosis - brachyphalangy - optic atrophy L L-2-hydroxyglutaric aciduria 2363 Lacrimo-auriculo-dento-digital 2364 Lactate dehydrogenase Lactate dehydrogenase H-subunit Lactate dehydrogenase M-subunit 501 Lafora disease Laing distal myopathy 1296 Lambert Lambert-Eaton myasthenic 313 Lamellar ichthyosis Laminopathy Decaudain-Vigouroux Landau-Kleffner 2632 Langer mesomelic dysplasia 502 Langer-Giedion 389 Langerhans cell histiocytosis Langerhans cell histiocytosis in childhood and adulthood Langerhans cell histiocytosis specific to adulthood Langerhans cell histiocytosis specific to childhood Langerhans cell sarcoma 626 Large congenital melanocytic nevus 633 Laron Laron with immuno 2370 Larsen-like osseous dysplasia - short stature Larsen-like, B3GAT Laryngeal abductor paralysis 2375 Laryngeal abductor paralysis - intellectual deficit Laryngeal dyskinesia Laryngeal endocrine tumor 2372 Laryngocele Laryngotracheal angioma 2004 Laryngo-tracheo-esophageal cleft 2005 Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft Laryngo-tracheo-esophageal cleft Larynx atresia Lassa fever Late infantile neuronal ceroid lipofuscinosis Late-infantile or juvenile Krabbe disease Late-onset autosomal recessive medullary cystic kidney disease Late-onset focal dermal elastosis Late-onset isolated ACTH Late-onset junctional epidermolysis bullosa Late-onset localized junctional epidermolysis bullosa - intellectual deficit Late-onset retinal degeneration 2789 Lateral meningocele Lathosterolosis Lattice corneal dystrophy I Lattice corneal dystrophy II Laubry-Pezzi 2377 Laurence-Moon 2378 Laurin-Sandrow 650 LCAT 65 Leber congenital amaurosis 104 Leber hereditary optic neuropathy Leber 'plus' disease Ledderhose disease Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

32 99111 Left superior vena cava persisting to leftsided atrium Left ventricular noncompaction 2380 Legg-Calve-Perthes disease 549 Legionellosis Legius 506 Leigh Leigh with cardiomyopathy Leigh with leukodystrophy Leigh with nephrotic Leiomyosarcoma Leiomyosarcoma of the cervix uteri Leiomyosarcoma of the corpus uteri 507 Leishmaniasis Lelis Lemierre 2382 Lennox-Gastaut 2658 Lenz-Majewski hyperostotic dwarfism Lenz-passarge dysplasia 500 LEOPARD 508 Leprechaunism 548 Leprosy Leptomyelolipoma 509 Leptospirosis 2900 Leri pleonosteosis 240 Léri-Weill dyschondrosteosis 510 Lesch-Nyhan Leshima-Koeda-Inagaki - intellectual deficit Lethal acantholytic epidermolysis bullosa Lethal arthrogryposis - anterior horn cell disease 1187 Lethal ataxia with deafness and optic atrophy 1420 Lethal chondrodysplasia, Moerman 1421 Lethal chondrodysplasia, Seller 1486 Lethal congenital contracture Lethal congenital contracture Lethal congenital contracture Lethal faciocardiomelic dysplasia 1046 Lethal hemolytic anemia - genital anomalies Lethal idiopathic viral infection Lethal infantile mitochondrial myopathy 2347 Lethal Kniest-like dysplasia 2371 Lethal Larsen-like Lethal multiple pterygium Lethal occipital encephalocele-skeletal dysplasia 2736 Lethal omphalocele-cleft palate 1832 Lethal osteosclerotic bone dysplasia Lethal polymalformative, Boissel 1423 Lethal recessive chondrodysplasia 1662 Lethal restrictive dermopathy Letterer-Siwe disease 2968 Leukocyte adhesion Leukocyte adhesion I Leukocyte adhesion II Leukocyte adhesion III Leukodystrophy - spastic paraplegia - dystonia 2385 Leukodystrophy, Reunion Leukoencephalopathy - ataxia - hypodontia - hypomyelination Leukoencephalopathy - dystonia - motor neuropathy Leukoencephalopathy - metaphyseal chondrodysplasia 2386 Leukoencephalopathy - palmoplantar keratoderma Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation 2387 Leukonychia totalis Leukonychia totalis - acanthosisnigricans-like lesions - abnormal hair Levocardia Lewis-Sumner 755 Leydig cell hypoplasia LH resistance due to complete LH receptor inactivation LH resistance due to partial LH receptor inactivation Lhermitte-Duclos disease Lichen amyloidosis 525 Lichen planopilaris Lichen planus pemphigoides Lichen planus pigmentosus 2390 Lichstenstein 526 Liddle 524 Li-Fraumeni LIG Light and heavy chain deposition disease Light chain deposition disease Ligneous conjunctivitis 2369 Limb body wall complex Limb dystonia 2492 Limb transversal defect - cardiac anomaly Limbic encephalitis Limbic encephalitis associated with NMDA receptor antibodies Limbic encephalitis with caspr2 antibodies Limbic encephalitis with VGKC antibodies Limbic encephalitis, with ncmags antibodies Limb-mammary Limited cutaneous systemic sclerosis Limited systemic sclerosis Linear and whorled nevoid hypermelanosis Linear atrophoderma of Moulin Linear focal dermal elastosis Linear IgA dermatosis Linear inflammatory verrucous epidermal nevus Linear lichen planus 2612 Linear nevus sebaceus 2611 Linear verrucous nevus Lipedema Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Lipoblastoma Lipodystrophy - intellectual deficit - deafness 1979 Lipodystrophy due to peptidic growth factors Lipodystrophy in Human Immuno Virus-infected patients 530 Lipoid proteinosis Lipomyelomeningocele Liposarcoma Lisch epithelial corneal dystrophy Lissencephaly - demyelinating axonal neuropathy Lissencephaly due to LIS1 mutation Lissencephaly due to TUBA1A mutation Lissencephaly, Norman-Roberts 2148 Lissencephaly 1 due to doublecortin gene mutation Lissencephaly 3 - familial fetal akinesia sequence Lissencephaly 3 - metacarpal bone dysplasia Lissencephaly with cerebellar hypoplasia A Lissencephaly with cerebellar hypoplasia B Lissencephaly with cerebellar hypoplasia C Lissencephaly with cerebellar hypoplasia D Lissencephaly with cerebellar hypoplasia E Lissencephaly with cerebellar hypoplasia F 533 Listeriosis 369 Liver phosphorylase Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

33 93924 Lobar holoprosencephaly Localized Castleman disease 2199 Localized epidermolytic palmoplantar hyperkeratosis 1823 Localized epiphyseal dysplasia Localized junctional epidermolysis bullosa, non-herlitz Localized lichen myxedematosus Localized lichen myxedematosus with mixed features of different subs Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized pagetoid reticulosis Localized peeling skin Localized scleroderma 2406 Locked-in Loeffler's endocarditis Loeys-Dietz LOGIC Logopenic progressive aphasia 2404 Loiasis 5 Long chain 3-hydroxyacyl-CoA dehydrogenase Long chain Acyl-CoA dehydrogenase Longitudinal vaginal septum 168 Loose anagen 1532 Lopez-Hernandez Loricrin keratoderma 2621 Low birth weight - dwarfism - dysgammaglobulinemia Low grade ependymoma Low phospholipid associated cholelithiasis 2408 Lowe-Kohn-Cohen 2487 Lower limb - hypospadias Lower limb hypertrophy Lower lip fistula Lower motor neuron with lateadult onset Low-flow priapism 2409 Lowry-MacLean 1824 Lowry-Wood 2455 Lumbar malsegmentation - short stature Lumbosacral spina bifida aperta Lumbosacral spina bifida cystica 1120 Lung agenesis - heart defect - thumb anomalies Lung fibrosis - immuno - 46,XX gonadal dysgenesis Lupus erythematosus panniculitis Lupus erythematosus tumidus 537 Lyell Lyme disease 538 Lymphangioleiomyomatosis 2035 Lymphatic filariasis 2415 Lymphatic malformation Lymphedema - atrial septal defects - facial changes Lymphedema - cerebral arteriovenous anomaly Lymphedema - cleft palate Lymphedema - distichiasis Lymphoadenopathic mastocytosis with eosinophilia Lymphocyte-depleted classical Hodgkin lymphoma Lymphocyte-rich classical Hodgkin lymphoma Lymphocytic colitis Lymphoepithelial-like carcinoma Lymphoid interstitial pneumonia Lymphomatoid granulomatosis Lymphomatoid papulosis 470 Lysinuric protein intolerance Lysosomal acid lipase Machado-Joseph disease Machado-Joseph disease Machado-Joseph disease Macrocephaly - capillary malformation Macrocephaly - immune - anemia 2426 Macrocephaly - mesomelic arms - talipes 2427 Macrocephaly - short stature - paraplegia 2429 Macrocephaly - spastic paraplegia - dysmorphism Macrocephaly-autism Macrocystic lymphatic malformation Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral 592 Macrophagic myofasciitis 2432 Macrosomia - microphthalmia - cleft palate Macrostomia - preauricular tags - external ophthalmoplegia Macrothrombocytopenia with mitral valve insufficiency MACS Macular amyloidosis Macular coloboma - cleft palate - hallux valgus Macular corneal dystrophy Maculopapular lupus rash Madelung deformity Madelung deformity, bilateral Madelung deformity, unilateral Madras motor neuron disease Maffucci Majeed Mal de debarquement Mal de Meleda 556 Malakoplakia 673 Malaria 2234 Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies Male infertility associated with large-headed multiflagellar polyploid spermatozoa Male infertility with normal virilization due to meiosis defect Malignancy diagnosed during pregnancy 679 Malignant atrophic papulosis Malignant dysgerminomatous germ cell tumor 2023 Malignant fibrous histiocytoma Malignant germ cell tumor of the cervix uteri Malignant germ cell tumor of the corpus uteri 423 Malignant hyperthermia 2215 Malignant hyperthermia - arthrogryposis - torticollis Malignant melanoma of the mucosa Malignant migrating partial seizures of infancy Malignant mixed epithelial mesenchymal tumor of the ovary Malignant mixed müllerian tumor of the corpus uteri Malignant müllerian mixed tumor of the cervix uteri Malignant perineurioma 3148 Malignant peripheral nerve sheath tumor Malignant peripheral neuroectodermal tumor of the cervix uteri Malignant peripheral neuroectodermal tumor of the corpus uteri Malignant peritoneal mesothelioma Malignant triton tumor Malignant tumor of fallopian tube 943 Malonic aciduria Malposition of the coronary ostium MALT lymphoma Mammary polyadenomatosis Mammary-digital-nail Mandibular arteriovenous malformation 2457 Mandibuloacral dysplasia Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

34 90153 Mandibuloacral dysplasia with A lipodystrophy Mandibuloacral dysplasia with B lipodystrophy 2458 Mandibulofacial dysostosis - deafness - postaxial polydactyly Mandibulo-facial dysostosis - lymphedema Mandibulofacial dysostosis-microcephaly 2459 Mansonellosis Mantle cell lymphoma 511 Maple syrup urine disease Marburg acute multiple sclerosis Marburg disease Marchiafava-Bignami disease Marcus-Gunn 2461 Marden-Walker 558 Marfan Marfan Marfan Marfanoid habitus - intellectual deficit, autosomal recessive 2464 Marfanoid, De Silva Margarita island ectodermal dysplasia 444 Marie Unna congenital hypotrichosis Marin-Amat 559 Marinesco-Sjögren Marseilles fever 560 Marshall Marshall's with periodic fever 561 Marshall-Smith 2466 MASA Mast cell leukemia Mast cell sarcoma Maternal 14q32.2 hypermethylation Maternal 14q32.2 microdeletion 2209 Maternal hyperphenylalaninemia 2216 Maternal hyperthermia induced birth defects Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome Maternal uniparental disomy of chromosome X 225 Maternally inherited diabetes and deafness Maternally-inherited Leigh Maternally-inherited mitochondrial dilated cardiomyopathy Maternally-inherited mitochondrial dystonia Maternally-inherited mitochondrial hypertrophic cardiomyopathy 663 Maternally-inherited progressive external ophthalmoplegia 2470 Matthew-Wood Maxillary arteriovenous malformation 1248 Maxillo-nasal dysplasia 3109 Mayer-Rokitansky-Küster-Hauser 850 May-Hegglin thrombocytopenia Mazabraud 562 McCune-Albright 2471 McDonough 2473 McKusick-Kaufman 2474 McLain-Dekaban McLeod neuroacanthocytosis 3097 Meacham 564 Meckel Meconium aspiration 2476 Medeira-Dennis-Donnai 2006 Median cleft lip/mandibule Median cleft of the upper lip and maxilla 2699 Median nodule of the upper lip Mediastinal fibrosis Mediterranean macrothrombocytopenia Mediterranean spotted fever 42 Medium chain acyl-coa dehydrogenase MEDNIK 1309 Medullary sponge kidney 1332 Medullary thyroid carcinoma 616 Medulloblastoma Medulloblastoma with extensive nodularity Medulloepithelioma Meesmann corneal dystrophy Mega-cisterna magna 2241 Megacystis - microcolon - intestinal hypoperistalsis - hydronephrosis Megacystis-megaureter 2478 Megalencephalic leukoencephalopathy with subcortical cysts 2477 Megalencephaly Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus Megalocornea - spherophakia - secondary glaucoma 2479 Megalocornea-intellectual deficit MEHMO Meige disease Melanoma neural system tumor Melanoma of soft part Melanoma-pancreatic cancer 550 MELAS 2482 Melhem-Fahl Melioidosis 2483 Melkersson-Rosenthal 2485 Melorheostosis 1879 Melorheostosis with osteopoikilosis Membranoproliferative glomerulonephritis Membranoproliferative glomerulonephritis Membranoproliferative glomerulonephritis Membranoproliferative glomerulonephritis Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunisation 748 Mendelian susceptibility to mycobacterial diseases 2494 Menetrier's disease Meniere disease Meningeal melanocytoma 2495 Meningioma Meningococcal meningitis 565 Menkes disease 551 MERRF Mesial temporal lobe epilepsy with hippocampal sclerosis Mesoaxial synostotic syndactyly with phalangeal reduction Mesocardia 2631 Mesomelic dwarfism - cleft palate - camptodactyly 2633 Mesomelic dwarfism, Nievergelt 2634 Mesomelic dwarfism, Reinhardt-Pfeiffer 1835 Mesomelic dysplasia - skin dimples 1836 Mesomelic dysplasia, Kantaputra Mesomelic dysplasia, Savarirayan Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

35 50251 Mesothelioma Metabolic myopathy due to lactate transporter defect 2499 Metachondromatosis 512 Metachromatic leukodystrophy 1240 Metaphyseal acroscyphodysplasia 1040 Metaphyseal anadysplasia Metaphyseal chondrodysplasia - retinitis pigmentosa Metaphyseal chondrodysplasia, Jansen Metaphyseal chondrodysplasia, Kaitila 174 Metaphyseal chondrodysplasia, Schmid 2501 Metaphyseal chondrodysplasia, Spahr Metaphyseal chondromatosis with d-2- hydroxyglutaric aciduria 2502 Metaphyseal dysostosis - intellectual deficit - conductive deafness 2504 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty 1838 Metaphyseal dysplasia without hypotrichosis Metaphyseal dysplasia, Braun-Tinschert Metaplastic carcinoma of the breast Metastatic pituitary hormone Metastatic spermatocytic seminoma 2635 Metatropic dysplasia Methanol poisoning 1923 Methimazole embryofetopathy Methotrexate toxicity Methotrexate-associated lymphoproliferative disorders 2169 Methylcobalamin cble 2170 Methylcobalamin cblg 26 Methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria, cblc Methylmalonic acidemia with homocystinuria, cbld Methylmalonic acidemia with homocystinuria, cblf Methylmalonic acidemia without homocystinuria 944 Methylmalonic aciduria - microcephaly - cataract Methylmalonic aciduria due to transcobalamin receptor defect 29 Mevalonic aciduria 2507 Mickleson 2508 Micrencephaly - corpus callosum agenesis - abnormal genitalia 2510 Micro 2511 Microbrachycephaly - ptosis - cleft lip 2643 Microcephalic - primordial dwarfism, Toriello Microcephalic osteodysplastic dysplasia, Saul-Wilson 2636 Microcephalic osteodysplastic primordial dwarfism s 1 and Microcephalic osteodysplastic primordial short stature Microcephaly - albinism - digital anomalies 3433 Microcephaly - brachydactyly - kyphoscoliosis 2523 Microcephaly - brain defect - spasticity - hypernatremia 2516 Microcephaly - cardiac defect - lung malsegmentation 2515 Microcephaly - cardiomyopathy 2522 Microcephaly - cervical spine fusion anomalies 2521 Microcephaly - cleft palate Microcephaly - cutis verticis gyrata - lymphedema 2533 Microcephaly - deafness - intellectual deficit Microcephaly - digital anomalies - intellectual deficit Microcephaly - facio-cardio-skeletal, Hadziselimovic 2172 Microcephaly - glomerulonephritis - marfanoid habitus Microcephaly - intellectual deficit - phalangeal and neurological anomalies 2526 Microcephaly - lymphedema - chorioretinopathy Microcephaly - polymicrogyria - corpus callosum agenesis Microcephaly - seizures - developmental delay 2519 Microcephaly - seizures - intellectual deficit - heart disease Microcephaly vera Microcephaly with simplified gyral pattern Microcephaly-capillary malformation 2528 Microcephaly-microcornea, Seemanova 2535 Microcornea - corectopia - macular hypoplasia 2536 Microcornea - glaucoma - absent frontal sinuses Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma Microcystic corneal dystrophy Microcystic lymphatic malformation Microcytic anemia with liver iron overload 1643 Microdeletion Xp Microduplication Xp11.22-p Microform holoprosencephaly 2538 Microgastria - limb reduction defect 1083 Microlissencephaly Microlissencephaly - micromelia Microlissencephaly B 2641 Micromelic dwarfism, Fryns Microphthalmia - ankyloblepharon - intellectual deficit Microphthalmia - brain atrophy 2543 Microphthalmia - cataract 2547 Microphthalmia - microtia - fetal akinesia Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen Microphthalmia with brain and digit anomalies 1106 Microphthalmia with limb anomalies 568 Microphthalmia, Lenz Microscopic colitis 727 Microscopic polyangiitis 2551 Microspherophakia - metaphyseal dysplasia 2552 Microsporidiosis Microtia Microtia - eye coloboma - imperforation of the nasolacrimal duct Microtriplication 11q Microvillous inclusion disease Micturation-induced seizures 2556 MIDAS Mid-dermal elastolysis Middle ear endocrine tumor Midline cervical cleft Midline interhemispheric variant of holoprosencephaly 2557 Mietens 2558 Mikati-Najjar-Sahli Mikulicz disease Mild hemophilia A Mild hemophilia B Mild hyperphenylalaninemia Mild nemaline myopathy Mild phenylketonuria Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 531 Miller-Dieker Miller-Fisher Mills Milroy disease Minimally differentiated acute myeloblastic leukemia Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

36 3004 Mirror polydactyly - vertebral segmentation - limbs defects MITF-related melanoma and renal cell carcinoma predisposition Mitochondrial DNA depletion 1933 Mitochondrial DNA depletion, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion, hepatocerebral form Mitochondrial DNA depletion, hepatocerebral form due to DGUOK Mitochondrial DNA depletion, myopathic form 1194 Mitochondrial encephalo-cardio-myopathy due to TMEM Mitochondrial myopathy - lactic acidosis 2598 Mitochondrial myopathy and sideroblastic anemia Mitochondrial myopathy with reversible cytochrome C oxidase 298 Mitochondrial neurogastrointestinal encephalomyopathy Mitochondrial nonsyndromic sensorineural deafness Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure 746 Mitochondrial trifunctional protein 1205 Mitral atresia Mitral valve agenesis Mixed cellularity classical Hodgkin lymphoma 809 Mixed connective tissue disease Mixed cryoglobulinemia Mixed germ cell tumor Mixed germ cell tumor of the central nervous system Mixed- autoimmune hemolytic anemia Miyoshi myopathy 3434 MMEP 2560 Möbius - axonal neuropathy - hypogonadotropic hypogonadism Moderate and severe traumatic brain injury Moderate multiminicore disease with hand involvement Moderately severe hemophilia A Moderately severe hemophilia B Moderately-differentiated thymic neuroendocrine carcinoma 552 MODY 570 Moebius Mohr-Tranebjaerg 2563 MOMO 573 Monilethrix 3057 Monoamine oxidase-a Monoclonal Ig light chain-associated Fanconi Monocytopenia with susceptibility to infections Monomelic amyotrophy 2565 Mononen-Karnes-Senac 1606 Monosomy 1p Monosomy 5p Monosomy 9p Monosomy 9q Monosomy 13q Monosomy 13q Monosomy 18p 1600 Monosomy 18q 574 Monosomy Monosomy Monosomy 22q Monosomy 22q Monosomy X Monosomy Xp Monostotic fibrous dysplasia 2569 Moore-Federman Morgagni-Stewart-Morel MORM Morning glory 2570 Morse-Rawnsley-Sargent Morvan Mosaic monosomy X 1692 Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic trisomy Mosaic variegated aneuploidy Motor developmental delay due to 14q32.2 paternally expressed gene defect 2152 Mowat-Wilson Mowat-Wilson due to a point mutation Mowat-Wilson due to monosomy 2q Moyamoya disease Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism 2574 Moynahan MRCS Mu heavy-chain disease 575 Muckle-Wells 2451 Mucocutaneous venous malformations 576 Mucolipidosis Mucolipidosis Mucolipidosis Mucopolysaccharidosis Mucopolysaccharidosis Mucopolysaccharidosis 2A Mucopolysaccharidosis 2B 581 Mucopolysaccharidosis Mucopolysaccharidosis Mucopolysaccharidosis Mucopolysaccharidosis 6, rapidly progressing Mucopolysaccharidosis 6, slowly progressing 584 Mucopolysaccharidosis Mucous membrane pemphigoid Muenke 587 Muir-Torre 2576 MULIBREY nanism Mullerian aplasia 1655 Mullerian derivatives - lymphangiectasia - polydactyly 2491 Mullerian duct anomalies - limb anomalies 2774 Multicentric carpo-tarsal osteolysis with or without nephropathy Multicentric Castleman disease Multicentric reticulohistiocytosis 1851 Multicystic renal dysplasia 641 Multifocal motor neuropathy with conduction block 2033 Multifocal muscular fibrosis - obstructed vessels Multifocal pattern dystrophy simulating fundus flavimaculatus Multiloculated renal cyst 598 Multiminicore myopathy 2091 Multinodular goiter - cystic kidney - polydactyly 2505 Multiple benign circumferential skin creases on limbs Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

37 148 Multiple carboxylase Multiple congenital anomalies - hypotonia - seizures Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect Multiple congenital anomalies-hypotoniaseizures Multiple endocrine neoplasia Multiple endocrine neoplasia Multiple endocrine neoplasia 2A Multiple endocrine neoplasia 2B Multiple endocrine neoplasia Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia, Al-Gazali Multiple epiphyseal dysplasia, Beighton Multiple epiphyseal dysplasia, Lowry Multiple epiphyseal dysplasia, unclassified Multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia 2300 Multiple intestinal atresia Multiple keratoacanthoma, Ferguson- Smith Multiple myeloma 2029 Multiple non-ossifying fibromatosis 321 Multiple osteochondromas Multiple pterygium, Aslan Multiple pterygium, X-linked 3151 Multiple sclerosis - ichthyosis - factor VIII 585 Multiple sulfatase 3237 Multiple synostoses Multiple syringomas 102 Multiple system atrophy Multiple system atrophy, cerebellar Multiple system atrophy, parkinsonian Multiple ventricular septal defects 2578 MURCS association Murine typhus 588 Muscle eye brain disease Muscle filaminopathy 371 Muscle phosphofructokinase 2579 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus 1877 Muscular dystrophy - white matter spongiosis Muscular dystrophy, Selcen 2349 Muscular pseudohypertrophy - hypothyroidism MUTYH-related attenuated familial adenomatous polyposis 2582 Myalgia-eosinophilia associated with tryptophan 589 Myasthenia gravis 2583 Mycetoma Mycophenolate mofetil embryopathy Mycoplasma encephalitis Myelocystocele Myelodysplastic associated with isolated del(5q) chromosome abnormality Myelodysplastic s 824 Myelofibrosis with myeloid metaplasia Myeloid neoplasm associated with FGFR1 rearrangement Myeloid neoplasm associated with PDGFRA rearrangement Myeloid neoplasm associated with PDGFRB rearrangement Myeloid sarcoma 2587 Myeloperoxidase 2588 Myhre Myiasis Myoclonic dystonia Myoclonic dystonia Myoclonic epilepsy in non-progressive encephalopathies Myoclonic epilepsy of infancy 2589 Myoclonus - cerebellar ataxia - deafness 593 Myofibrillar myopathy Myopathic intestinal pseudoobstruction 2601 Myopathy - growth delay - intellectual deficit - hypospadias 2596 Myopathy and diabetes mellitus Myopathy due to calsequestrin and SERCA1 protein overload Myopathy due to phosphoglycerate mutase Myopathy with hexagonally cross-linked tubular arrays Myopericytoma 368 Myophosphorylase Myopic macular degeneration Myosclerosis Myostatin-related muscle hypertrophy Myotilin-related myofibrillar myopathy without spheroid body Myotonia fluctuans Myotonia permanens Myotonic dystrophy Myxofibrosarcoma Myxoid liposarcoma Myxopapillary ependymoma 2608 N Naegeli-Franceschetti-Jadassohn 2613 Nail patella-like - renal disease 2614 Nail-patella 2615 Nakajo-Nishimura NALP12-associated hereditary periodic fever 627 Nance-Horan Nanophthalmia Narcolepsy without cataplexy 2073 Narcolepsy-cataplexy 644 NARP Nasal dermoid cyst Nasal dorsum fistula/cyst Nasal encephalocele Nasal ganglioglioma Nasal glial heterotopia Nasolacrimal duct cyst 2399 Nasopalpebral lipoma - coloboma - telecanthus 150 Nasopharyngeal carcinoma Nasopharyngeal teratoma 1654 Natal teeth - intestinal pseudoobstruction - patent ductus 2663 Nathalie Native American myopathy Navajo neurohepatopathy Naxos disease Necrobiotic xanthogranuloma Nelson 607 Nemaline myopathy Neonatal acute respiratory distress with surfactant metabolism 44 Neonatal adrenoleukodystrophy Neonatal brainstem dysfunction Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys 224 Neonatal diabetes mellitus Neonatal glycine encephalopathy 446 Neonatal hemochromatosis Neonatal hypoxic and ischemic brain injury Neonatal inflammatory skin and bowel disease Neonatal intrahepatic cholestasis due to citrin Neonatal iodine exposure Neonatal Marfan Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

38 97668 Neonatal membranous glomerulopathy with maternal NEP 491 Neonatal ovarian cyst 417 Neonatal severe primary hyperparathyroidism Neovascular glaucoma 654 Nephroblastoma 223 Nephrogenic diabetes insipidus 3145 Nephrogenic diabetes insipidus - intracranial calcification Nephrogenic of inappropriate antidiuresis Nephrogenic systemic fibrosis 2668 Nephropathy - deafness - hyperparathyroidism 2669 Nephrosis - deafness - urinary tract - digital malformations Nephrotic -deafness-pretibial epidermolysis bullosa Nestor-Guillermo progeria 634 Netherton 2672 Neuhauser-Eichner-Opitz Neuhauser's anomaly 2671 Neu-Laxova Neurenteric cyst 2675 Neuroaxonal dystrophy - renal tubular acidosis Neuroaxonal dystrophy, Schindler 635 Neuroblastoma 2481 Neurocutaneous melanocytosis Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegenerative due to cerebral folate transport Neuroectodermal melanolysosomal disease 2316 Neuroectodermal, Johnson 2676 Neuroectodermal-endocrine Neuroendocrine cell hyperplasia of infancy 2677 Neuroepithelioma 2673 Neurofaciodigitorenal Neuroferritinopathy Neurofibroma Neurofibromatosis 638 Neurofibromatosis - Noonan 636 Neurofibromatosis Neurofibromatosis Neurofibromatosis Neurofibromatosis Neurogenic arthrogryposis multiplex congenita Neuroleptic malignant Neurologic Waardenburg-Shah Neurological conditions associated with aminoacylase Neurolymphomatosis Neuromyelitis optica 216 Neuronal ceroid lipofuscinosis Neuronal intestinal pseudoobstruction 2289 Neuronal intranuclear inclusion disease Neuropathy with hearing impairment 3228 Neurosensory deafness - pituitary dwarfism Neurotrophic keratopathy 165 Neutral lipid storage disease Neutral lipid storage myopathy 2690 Neutropenia - monocytopenia - deafness Neutrophil immuno 624 Nevi flammei 2691 Nevo Nevus comedonicus Nevus of Ito Nevus of Ota 645 Niemann-Pick disease Niemann-Pick disease A Niemann-Pick disease B 646 Niemann-Pick disease C Niemann-Pick disease C, adult neurologic onset Niemann-Pick disease C, juvenile neurologic onset Niemann-Pick disease C, late infantile neurologic onset Niemann-Pick disease C, severe early infantile neurologic onset Niemann-Pick disease C, severe perinatal Niemann-Pick disease E 1390 Night blindness - skeletal anomalies - dysmorphism 647 Nijmegen breakage Nijmegen breakage -like disorder Nipah fever NK-cell enteropathy Nocardiosis Nocturnal frontal lobe epilepsy Nodal marginal zone B-cell lymphoma Nodular cutaneous amyloidosis Nodular lichen myxedematosus Nodular lymphocyte predominant Hodgkin lymphoma 2149 Nodular neuronal heterotopia Nodular non-suppurative panniculitis Nodular regenerative hyperplasia of the liver Nodular sclerosis classical Hodgkin lymphoma Nodular urticaria pigmentosa Nodulosis-arthropathy-osteolysis 2700 Noma Non hereditary congenital primary lymphedema Non hereditary late-onset primary lymphedema Non secreting chemodectoma Non secreting paraganglioma 467 Nonacquired combined pituitary hormone Nonacquired combined pituitary hormone with spine abnormalities Non-acquired isolated central diabetes insipidus 631 Nonacquired isolated growth hormone Nonamyloid fibrillary glomerulopathy Non-amyloid monoclonal immunoglobulin deposition disease Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase Non-distal monosomy 7p 1581 Non-distal monosomy 10q Non-distal monosomy 12q Non-distal monosomy 20q Non-distal trisomy 9q 1695 Non-distal trisomy 10q 1699 Non-distal trisomy 12p 1702 Non-distal trisomy 13q 2972 Noneruption of teeth - maxillary hypoplasia - genu valgum Non-familial dilated cardiomyopathy Non-familial hypertrophic cardiomyopathy Non-familial restrictive cardiomyopathy Non-gestational ovarian choriocarcinoma Non-herpetic acute limbic encephalitis Non-infectious uveitis affecting the posterior segment of the eye Non-involuting congenital hemangioma Nonopalescent opalescent dentin Non-papillary transitional cell carcinoma of the bladder Nonpolyposis Turcot Non-progressive congenital heart block 176 Non-rhizomelic chondrodysplasia punctata Non-secreting pituitary adenoma Nonspecific interstitial pneumonia Nonspherocytic hemolytic anemia due to hexokinase 648 Noonan Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

39 2701 Noonan-like with loose anagen hair 680 Normokalemic periodic paralysis 432 Normosmic congenital hypogonadotropic hypogonadism 649 Norrie disease North Carolina macular dystrophy Not NOTCH3-related small vessel disease of the brain 3032 NPHP3-related Meckel-like Nuclear cataract Null Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay Obesity due MC3R Obesity due to congenital leptin Obesity due to leptin receptor gene Obesity due to melanocortin-4 receptor Obesity due to prohormone convertase-i Obesity due to pro-opiomelanocortin Obesity, hyperphagia, and severe developmental delay due totrkb gene Occipital encephalocele 198 Occipital horn Occipital pachygyria and polymicrogyria Occult macular dystrophy Occupational allergic alveolitis 2704 Ochoa 1000 Ocular albinism - late-onset sensorineural deafness 1125 Ocular motor apraxia, Cogan Ocular pemphigoid 2711 Oculo digital Oculoauricular, Schorderet Oculo-auriculo-vertebral spectrum 2549 Oculoauriculovertebral spectrum with radial defects 2705 Oculocerebral dysplasia 2719 Oculocerebral hypopigmentation, Cross 2720 Oculocerebral hypopigmentation, Preus 2706 Oculo-cerebro-acral 1647 Oculocerebrocutaneous 2707 Oculocerebrofacial, Kaufman 2708 Oculo-cerebro-osseous 534 Oculocerebrorenal 55 Oculocutaneous albinism Oculocutaneous albinism 1A Oculocutaneous albinism 1B Oculocutaneous albinism Oculocutaneous albinism Oculocutaneous albinism Oculodental, Rutherfurd 2710 Oculodentodigital dysplasia Oculodentodigital Oculofaciocardiodental 1876 Oculogastrointestinal muscular dystrophy 1794 Oculomaxillofacial dysostosis 2713 Oculoosteocutaneous Oculootodental Oculo-oto-facial dysplasia 2714 Oculo-palato-cerebral 270 Oculopharyngeal muscular dystrophy Oculopharyngodistal myopathy 2715 Oculo-reno-cerebellar 2716 Oculo-skeletal-renal 2717 Oculotrichoanal 2718 Oculotrichodysplasia Odontohypophosphatasia Odontoleukodystrophy 2724 Odontomatosis - aortae esophagus stenosis 1811 Odontomicronychial dysplasia 2722 Odonto-onycho dysplasia - alopecia 2721 Odonto-onycho-dermal dysplasia 3391 Odonto-onycho-hypohidrotic dysplasia - midline scalp defects 2723 Odontotrichomelic Odonto-tricho-ungual-digito-palmar Oguchi disease 2729 Okamoto Okihiro Okihiro due to 20q13 microdeletion Okihiro due to a point mutation Oligoarticular juvenile arthritis Oligoarticular juvenile arthritis with antinuclear antibodies Oligoarticular juvenile arthritis without anti-nuclear antibodies Oligoastrocytoma Oligocone trichromacy Oligodendroglial tumor Oligodendroglioma Oligodontia Oligodontia - cancer predisposition 2260 Oligomeganephronia 2920 Oliver 2732 Olivopontocerebellar atrophy - deafness 659 Olmsted Omenn 2733 Omodysplasia 660 Omphalocele 3164 Omphalocele, Shprintzen- Goldberg 490 Omphalomesenteric cyst 2737 Onchocerciasis 661 Ondine Onychocytic matricoma Onychomatricoma 2739 Onycho-tricho-dysplasia - neutropenia Open iniencephaly 2741 Ophthalmomandibulomelic dysplasia 2743 Ophthalmoplegia - intellectual deficit - lingua scrotalis 2742 Ophthalmoplegia - myalgia - tubular aggregates 2745 Opitz BBB/G 2746 Opsismodysplasia 1183 Opsoclonus-myoclonus 2086 Optic pathway glioma Oral erosive lichen 2750 Oral-facial-digital Oral-facial-digital Oral-facial-digital Oral-facial-digital Oral-facial-digital Oral-facial-digital Oral-facial-digital Oral-facial-digital Oral-facial-digital Oral-facial-digital Oral-facial-digital Orbital leiomyoma Organic early-onset schizophrenia Orgasm-induced seizures 664 Ornithine transcarbamylase Orofaciodigital Oromandibular dystonia 2749 Oro-mandibular-limb hypogenesis Oroya fever Osgood-Schlatter disease 2760 OSLAM Ossification anomalies - psychomotor development delay Osteoblastoma 2054 Osteochondritis of tarsal/metatarsal bone 2653 Osteochondrodysplatic nanism - deafness - retinitis pigmentosa Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

40 2763 Osteocraniostenosis 2484 Osteodysplasty, Melnick-Needles 666 Osteogenesis imperfecta 2773 Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit Osteogenesis imperfecta - shortened long bones - white sclerae Osteogenesis imperfecta Osteogenesis imperfecta Osteogenesis imperfecta Osteogenesis imperfecta Osteogenesis imperfecta Osteoglophonic dwarfism 2777 Osteomesopyknosis 2780 Osteopathia striata - cranial sclerosis 2779 Osteopathia striata - pigmentary dermopathy - white forelock Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism Osteopetrosis - hypogammaglobulinemia 2785 Osteopetrosis with renal tubular acidosis 2787 Osteoporosis - macrocephaly - blindness - joint hyperlaxity 2788 Osteoporosis - pseudoglioma 2786 Osteoporosis-oculocutaneoushypopigmentation 668 Osteosarcoma Osteosclerosis - developmental delay - craniosynostosis Osteosclerosis - ichthyosis - premature ovarian failure O'Sullivan-McLeod Other forms of non-paraneoplastic limbic encephalitis Other muscle weakness and/or chronic muscle pain 2791 Otodental 2792 Otofaciocervical 2793 Oto-onycho-peroneal 669 Otopalatodigital Otopalatodigital Otopalatodigital Otospondylomegaepiphyseal dysplasia Ovarian adenocarcinoma Ovarian germ cell malignant tumor Ovarian gonadoblastoma Ovarian hyperstimulation Ovarian malignant Sertoli-Leydig cell tumor Ovarian malignant tumor of sex cordstromal origin Ovarioleukodystrophy 2096 Overgrowth - craniosynostosis - arthrogryposis Overgrowth - macrocephaly - facial dysmorphism 3203 Overhydrated hereditary stomatocytosis Overlap myositis 2138 Ovotesticular disorder of sex development 31 Oxoglutaricaciduria P2Y Pachydermoperiostosis Pachygyria - epilepsy - intellectual deficit - dysmorphism 2798 Pachygyria - intellectual deficit - epilepsy 2309 Pachyonychia congenita 1952 Pacman dysplasia Paget's disease of the nipple 991 PAGOD 1993 Pai Painful orbital and systemic neurofibromas-marfanoid habitus 672 Pallister-Hall Palmoplantar keratoderma - amyotrophy 2202 Palmoplantar keratoderma - deafness 384 Palmoplantar keratoderma - sclerodactyly 2201 Palmoplantar keratoderma - spastic paralysis Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma Palmoplantar keratoderma with tonotubular keratin 2200 Palmoplantar keratosis, focal and gingival 736 Palmoplantar porokeratosis of Mantoux Palmoplantar punctate keratoderma Palmoplantar punctate keratoderma Pancreatic adenoma Pancreatic beta cell agenesis with neonatal diabetes mellitus Pancreatic carcinoma Pancreatic endocrine tumor 2255 Pancreatic hypoplasia - diabetes - heart disease Pancreatic insufficiency - anemia - hyperostosis 677 Pancreatoblastoma PANDAS Panhypophysitis Panhypopituitarism Panner disease Panniculitis and localized lipodystrophy Pantothenate-kinase-associated neurodegeneration Papillary carcinoma of the cervix uteri Papillary carcinoma of the corpus uteri Papillary fibroelastoma of the heart Papillary glioneuronal tumor 146 Papillary or follicular thyroid carcinoma Papillary thyroid carcinoma with renal papillary neoplasia Papillary tumour of the pineal region 2807 Papilloma of choroid plexus 678 Papillon-Lefèvre Papular elastorrhexis Papular mucinosis of infancy Papular xanthoma Parachute tricuspid valve Paracoccidioidomycosis Paramedian nasal cleft 684 Paramyotonia congenita of Von Eulenburg 2812 Parana hard-skin Paraneoplastic pemphigus Paraparetic variant of Guillain-Barré 2823 Paraplegia - brachydactyly - cone-shaped epiphysis 2824 Paraplegia - intellectual deficit - hyperkeratosis Paraquat poisoning 2646 Parastremmatic dwarfism 143 Parathyroid carcinoma 2825 PARC Parietal encephalocele Parietal foramina Parietal foramina with cleidocranial dysplasia 851 Paris-Trousseau thrombocytopenia Parkes Weber Parkinsonian-pyramidal Parkinsonism with dementia of Guadeloupe Paroxysmal cold hemoglobinuria 1431 Paroxysmal dyskinesia Paroxysmal exertion-induced dyskinesia Paroxysmal extreme pain disorder Paroxysmal hemicrania Paroxysmal hypnogenic dyskinesia Paroxysmal kinesigenic dyskinesia 447 Paroxysmal nocturnal hemoglobinuria Paroxysmal non-kinesigenic dyskinesia 2901 Parsonage-Turner Partial acquired lipodystrophy Partial androgen insensitivity 1330 Partial atrioventricular canal 1646 Partial chromosome Y deletion Partial congenital cataract Partial cryptophthalmia Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

41 90076 Partial deep dermal and full thickness burns Partial of methylmalonyl-coa mutase 2805 Partial pancreas agenesis Partial prune belly Partington 2829 Partington-Anderson Patella aplasia/hypoplasia Patella aplasia/hypoplasia, bilateral Patella aplasia/hypoplasia, unilateral 706 Patent arterial duct Patent ductus arteriosus - bicuspid aortic valve - hand anomalies Patent foramen ovale Paternal 14q32.2 hypomethylation Paternal 14q32.2 microdeletion Paternal 20q13.2q13.3 microdeletion Paternal uniparental disomy of chromosome Paternal uniparental disomy of chromosome Paternal uniparental disomy of chromosome Paternal uniparental disomy of chromosome Paternal uniparental disomy of chromosome Paternal uniparental disomy of chromosome Paternal uniparental disomy of chromosome Paternal uniparental disomy of chromosome Paternal uniparental disomy of chromosome X 2439 Patterson-Stevenson-Fontaine Pauci-immune glomerulonephritis Pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis without ANCA 699 Pearson 2835 Pectus excavatum - macrocephaly - dysplastic nails Pediatric Behcet disease Pediatric Castleman disease Pediatric polyarteritis nodosa Pediatric Sjögren Pediatric systemic lupus erythematosus Pediatric systemic sclerosis 817 Peeling skin 2836 PEHO PEHO-like 702 Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease, classic form Pelizaeus-Merzbacher disease, connatal form Pelizaeus-Merzbacher disease, transitional form Pelizaeus-Merzbacher-like due to AIMP1 mutation Pelizaeus-Merzbacher-like due to GJC2 mutation Pelizaeus-Merzbacher-like due to HSPD1 mutation Pelizaeus-Merzbacher-like due to SLC16A2 mutation Pellagra 2837 Pellagra-like skin rash - neurological manifestations Pellucid marginal degeneration 2840 Pelvic dysplasia - arthrogryposis of lower limbs PELVIS Pelviscapular dysplasia 2839 Pelvis-shoulder dysplasia Pemphigoid gestationis Pemphigus erythematosus Pemphigus foliaceus Pemphigus vegetans 704 Pemphigus vulgaris 705 Pendred 49 Penis agenesis 2842 Penoscrotal transposition 11 Pentasomy X 2843 Pentosuria 2847 Pericardial and diaphragmatic defect Pericarditis Perinatal lethal hypophosphatasia Perineurioma Perioral myoclonia with absences 563 Peripartum cardiomyopathy 1795 Peripheral dysostosis 2400 Peripheral motor neuropathy - dysautonomia Peripheral neuropathy, Fiskerstrand Peripheral precocious puberty Peripheral resistance to thyroid hormones Peritoneal cystic mesothelioma Peritumoral edema derived from brain tumors Periventricular leukomalacia Periventricular nodular heterotopia 2849 Perlman Permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis 2971 Peroxisomal acyl-coa oxidase 2855 Perrault Perry Persistent eustachian valve Persistent fifth aortic arch Persistent hyperplastic primary vitreous Persistent left superior vena cava connecting to the left-sided atrium 2856 Persistent Mullerian duct Persistent placoid maculopathy Persistent polyclonal B-cell lymphocytosis 708 Peters anomaly Peters anomaly - cataract 709 Peters-plus 2869 Peutz-Jeghers 710 Pfeiffer Pfeiffer Pfeiffer Pfeiffer Pfeiffer-Palm-Teller PHACE Phako-anaphylactic uveitis Phakomatosis cesioflammea Phakomatosis cesiomarmorata 2874 Phakomatosis pigmentokeratotica 2875 Phakomatosis pigmentovascularis Phakomatosis spilorosea Pharyngeal-cervical-brachial variant of Guillain-Barré 2876 Phaver 1919 Phenobarbital embryopathy 716 Phenylketonuria 2878 Phocomelia - ectrodactyly - deafness - sinus arrhythmia 2879 Phocomelia, Schinzel Phosphoenolpyruvate carboxykinase Phosphoenolpyruvate carboxykinase Phosphoenolpyruvate carboxykinase 713 Phosphoglycerate kinase Phosphoribosylpyrophosphate synthetase superactivity Phosphoserine aminotransferase Photosensitive epilepsy Phyllode tumor 670 PIBIDS 2885 Piebald trait - neurologic defects 2884 Piebaldism Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

42 Piepkorn dysplasia 2888 Pierre Robin - faciodigital anomaly 2670 Pierson Pigeon-breeder's lung disease Pigmented hypertrichosis with insulin dependent diabetes mellitus Pigmented paravenous retinochoroidal atrophy Pigmented villonodular synovitis 720 Pili bifurcati 719 Pili canulati Pili gemini Pili multibifurcati 2889 Pili torti 2891 Pili torti - developmental delay - neurological abnormalities 2890 Pili torti - onychodysplasia Pilocytic astrocytoma 2892 Pilodental dysplasia - refractive errors Pilo-dento-ungular dysplasia with microcephaly Pilomatrixoma Pilomyxoid astrocytoma 2894 Pilotto Pineal parenchymal tumor of intermediate differenciation Pineoblastoma Pineocytoma 34 Pipecolic acidemia 2896 Pitt-Hopkins Pitt-Hopkins-like Pituicytoma Pituitary apoplexy Pituitary carcinoma Pituitary due to empty sella turcica Pituitary due to Rathke's pouch cysts Pituitary dermoid and epidermoid cysts Pituitary stalk interruption 2897 Pityriasis rubra pilaris Placental site trophoblastic tumor 707 Plague Plaque-form urticaria pigmentosa Plasmablastic lymphoma Plasmacytoma Platelet function disease associated with renal insufficiency Platyspondylic dysplasia, Torrance 1417 Platyspondylic lethal chondrodysplasia 2899 Platyspondyly - amelogenesis imperfecta Pleomorphic liposarcoma Pleomorphic rhabdomyosarcoma Pleomorphic undifferentiated sarcoma Pleomorphic xanthoastrocytoma Pleuro-pericardial cyst Pleuropulmonary blastoma Pleuropulmonary blastoma family tumor susceptibility Pleuro-pulmonary blastoma I Pleuro-pulmonary blastoma II Pleuro-pulmonary blastoma III Plummer-Vinson Pneumoblastoma Pneumococcal meningitis 723 Pneumocystosis Pneumonia caused by sero O1 Pseudomonas Aeruginosa Pneumonia caused by sero O11 Pseudomonas Aeruginosa 2905 POEMS Poikiloderma with neutropenia 2911 Poland 2912 Poliomyelitis Pollitt 767 Polyarteritis nodosa 2770 Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy 2924 Polycystic liver disease 2795 Polycystic ovaries - urethral sphincter dysfunction 729 Polycythemia vera 2914 Polydactyly alopecia seborrheic dermatitis Polydactyly of a biphalangeal thumb 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 of the thumb, bilateral Polydactyly of the thumb, unilateral 2916 Polydactyly postaxial - dental and vertebral anomalies 2917 Polydactyly-myopia Polyembryoma Polymicrogyria 2925 Polymicrogyria - turricephaly - hypogenitalism Polymicrogyria due to TUBB2B mutation Polymicrogyria with optic nerve hypoplasia 732 Polymyositis 2926 Polyneuropathy - hand defect 2927 Polyneuropathy - hepatosplenomegaly - hyperpigmentation 2928 Polyneuropathy - intellectual deficit - acromicria - premature menopause 639 Polyneuropathy associated with IgM monoclonal gammopathy with anti-mag Polyostotic fibrous dysplasia Polyploidy Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies Polyrrhinia Polysyndactyly 2934 Polysyndactyly - cardiac malformation 2937 Polysyndactyly - microcephaly - ptosis Polysyndactyly, bilateral Polysyndactyly, unilateral 2936 Polysyndactyly-overgrowth Polyvalvular heart disease Pontiac fever Pontine tegmental cap dysplasia 2254 Pontocerebellar hypoplasia Pontocerebellar hypoplasia Pontocerebellar hypoplasia Pontocerebellar hypoplasia Pontocerebellar hypoplasia Pontocerebellar hypoplasia Pontocerebellar hypoplasia Poorly differentiated endocrine carcinoma of the cervix uteri Poorly differentiated endocrine carcinoma of the corpus uteri Poorly-differentiated thymic neuroendocrine carcinoma 2940 Porencephaly 2941 Porencephaly - cerebellar hypoplasia - internal malformations 735 Porokeratosis of Mibelli 737 Porokeratosis plantaris palmaris and disseminata Porokeratosis punctata palmaris et plantaris Porokeratotic eccrine ostial and dermal duct nevus Porphyria cutanea tarda Porphyria due to ALA dehydratase Porphyria variegata 854 Portal vein thrombosis 2703 Port-wine nevi - mega cisterna magna - hydrocephalus Post transplantation graft dysfunction 246 Postaxial acrofacial dysostosis 2918 Postaxial polydactyly Postaxial polydactyly B Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

43 Postaxial polydactyly of toes Postaxial polydactyly of toes, bilateral Postaxial polydactyly of toes, unilateral Postaxial polydactyly A Postaxial polydactyly A, bilateral Postaxial polydactyly A, unilateral Postaxial polydactyly B, bilateral Postaxial polydactyly B, unilateral 2730 Postaxial tetramelic oligodactyly Postcardiotomy right ventricular failure Postencephalitic parkinsonism Posterior amorphous corneal dystrophy Posterior choanal atresia - lymphedema Posterior column ataxia - retinitis pigmentosa Posterior cortical atrophy Posterior fossa tumors 2064 Posterior fusion of lumbosacral vertebrae - blepharoptosis Posterior meningocele Posterior polar cataract Posterior polymorphous corneal dystrophy Posterior urethral valve Postlingual nonsyndromic genetic deafness Post-neonatal intracerebral hemorrhage Postorgasmic illness 2942 Post-poliomyelitic Postsynaptic congenital myasthenic s Post-transplant acute limbic encephalitis Post-transplant lymphoproliferative disease Post-traumatic syringomyelia 612 Potassium-aggravated myotonia Potocki-Shaffer Pouchitis PPoma 739 Prader-Willi Prader-Willi due to imprinting mutation Prader-Willi due to maternal uniparental disomy of chromosome Prader-Willi due to paternal 15q11q13 deletion Prader-Willi due to paternal deletion of 15q11q Prader-Willi due to paternal deletion of 15q11q Prader-Willi due to translocation 2956 Prata-Liberal-Goncalves 2922 Preaxial polydactyly 2921 Preaxial polydactyly - colobomata - intellectual deficit Preaxial polydactyly of toes Preaxial polydactyly of toes, bilateral Preaxial polydactyly of toes, unilateral Precursor B-cell acute lymphoblastic leukemia Precursor T-cell acute lymphoblastic leukemia Pre-Descemet corneal dystrophy Predisposition to invasive bacterial infections Pre-eclampsia 2860 Preeyasombat-Varavithya Prelingual nonsyndromic genetic deafness Premature ageing appearancedevelopmental delay-cardiac arrhythmia Premature chromosome condensation with microcephaly and intellectual deficit Premature closure of the arterial duct Prenatal benign hypophosphatasia Pressure-induced localized lipoatrophy Presynaptic congenital myasthenic s Pretibial dystrophic epidermolysis bullosa Primary amyloidosis Primary anetoderma Primary angiitis of the central nervous system 2285 Primary basilar impression 186 Primary biliary cirrhosis Primary central nervous system lymphoma 244 Primary ciliary dyskinesia Primary ciliary dyskinesia - retinitis pigmentosa Primary ciliary dyskinesia, Kartagener Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Primary cutaneous anaplastic large cell lymphoma 541 Primary cutaneous CD30+ T-cell lymphoproliferative disease Primary cutaneous CD4+ small/mediumsized pleomorphic T-cell lymphoma Primary cutaneous diffuse large B-cell lymphoma, leg Primary cutaneous follicle center lymphoma Primary cutaneous gamma/delta-positive T-cell lymphoma Primary cutaneous marginal zone B-cell lymphoma Primary cutaneous unspecified peripheral T-cell lymphoma Primary dystonia, DYT Primary dystonia, DYT Primary dystonia, DYT Primary dystonia, DYT Primary effusion lymphoma Primary erythermalgia Primary familial polycythemia 3337 Primary Fanconi 2232 Primary hypergonadotropic hypogonadism - partial alopecia Primary hyperoxaluria Primary immuno due to p Primary immuno with skin granulomas Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Primary intestinal lymphangiectasia Primary intraocular lymphoma Primary intraosseous vascular malformation Primary laryngeal lymphangioma Primary lateral sclerosis Primary mediastinal large B-cell lymphoma Primary megaureter, adult-onset form Primary melanoma of the central nervous system Primary oculocerebral lymphoma Primary orthostatic tremor Primary parathyroids hyperplasia Primary peritoneal carcinoma Primary pigmented nodular adrenocortical disease Primary plasmacytoma of the bone Primary progressive aphasia Primary progressive freezing gait 2420 Primary pulmonary lymphoma 171 Primary sclerosing cholangitis Primary syringomyelia Primary syringomyelia/hydromyelia 2284 Primary T cell immuno Primary tethered chord Primary unilateral adrenal hyperplasia Primordial short stature - microdontia - opalescent and rootless teeth Proboscis lateralis 2959 Progeria - short stature - pigmented nevi Progeria-associated arthropathy Progeroid and marfanoid aspectlipodystrophy 2963 Progeroid, Petty Progressive bifocal chorioretinal atrophy Progressive bulbar paralysis of childhood Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

44 Progressive cavitating leukoencephalopathy Progressive cerebello-cerebral atrophy 1871 Progressive cone dystrophy 3235 Progressive deafness with stapes fixation Progressive demyelinating neuropathy with bilateral striatal necrosis 1947 Progressive epilepsy - intellectual deficit, Finnish 172 Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis Progressive hemifacial atrophy Progressive multifocal leukoencephalopathy Progressive myoclonic epilepsy Progressive myoclonic epilepsy Progressive nodular histiocytosis Progressive non-fluent aphasia 2062 Progressive non-infectious anterior vertebral fusion 2762 Progressive osseous heteroplasia 1159 Progressive pseudorheumatoid arthropathy of childhood Progressive sensorineural hearing loss - hypertrophic cardiomyopathy Progressive supranuclear palsy - corticobasal Progressive supranuclear palsy - parkinsonism Progressive supranuclear palsy - progressive non fluent aphasia Progressive supranuclear palsy - pure akinesia with gait freezing 316 Progressive symmetric erythrokeratodermia 2965 Prolactinoma 742 Prolidase 492 Proliferating trichilemmal cyst 2083 Prominent glabella - microcephaly - hypogenitalism 2966 Properdin 35 Propionic acidemia 2967 Protein R Protein S acquired 744 Proteus 2969 Proteus-like - intellectual deficit - eye defects Protoplasmic astrocytoma 606 Proximal myotonic myopathy 3269 Proximal radioulnar synostosis Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit 70 Proximal spinal muscular atrophy Proximal spinal muscular atrophy Proximal spinal muscular atrophy Proximal spinal muscular atrophy Proximal spinal muscular atrophy Proximal symphalangism 3390 Proximal tubulopathy - diabetes mellitus - cerebellar ataxia 2970 Prune belly Pruriginous dystrophic epidermolysis bullosa Pruritic urticarial papules and plaques of pregnancy Pseudo unicornuate uterus 750 Pseudoachondroplasia Pseudoaminopterin Pseudodiastrophic dysplasia Pseudohyperaldosteronism Pseudohypoaldosteronism Pseudohypoaldosteronism Pseudohypoaldosteronism 2A Pseudohypoaldosteronism 2B Pseudohypoaldosteronism 2C Pseudohypoaldosteronism 2D Pseudohypoaldosteronism 2E Pseudohypoparathyroidism 1A Pseudohypoparathyroidism 1B Pseudohypoparathyroidism 1C Pseudohypoparathyroidism Pseudoleprechaunism, Patterson Pseudomyxoma peritonei 129 Pseudo-pelade of Brocq 2985 Pseudoprogeria Pseudopseudohypoparathyroidism Pseudotyphus of California Pseudo-Von Willebrand disease 758 Pseudoxanthoma elasticum Pseudoxanthoma elasticum-like papillary dermal elastocytosis Pseudoxanthomatous diffuse cutaneous mastocytosis 2981 Pseudo-Zellweger Psychogenic movement disorders Psychomotor retardation due to S-adenosylhomocysteine hydrolase 2988 Pterygium colli - intellectual deficit - digital anomalies 2989 Pterygium of the conjunctiva, familial form 2999 Ptosis - strabismus - ectopic pupils Ptosis - syndactyly - learning difficulties Ptosis - upper ocular movement limitation - absence of lacrimal punctum 2997 Ptosis - vocal cord paralysis 984 Pulmonary agenesis Pulmonary alveolar microlithiasis 1137 Pulmonary aortic stenosis obstructive uropathy 2038 Pulmonary arteriovenous fistula Pulmonary artery coming from patent ductus arteriosus Pulmonary artery coming from the aorta 1676 Pulmonary artery familial dilatation Pulmonary artery hypoplasia 1208 Pulmonary atresia - intact ventricular septum 1207 Pulmonary atresia with ventricular septal defect Pulmonary branch stenosis Pulmonary capillary hemangiomatosis Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia Pulmonary fungal infections in patients deemed at risk Pulmonary interstitial glycogenosis Pulmonary nodular lymphoid hyperplasia 982 Pulmonary valve agenesis Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus Pulmonary vein atresia Pulmonary venoocclusive disease Pulp stones Pulpal dysplasia Pulverulent cataract Punctate acrokeratoderma freckle like pigmentation 441 Pure autonomic failure Pure hair and nail ectodermal dysplasia Pure mitochondrial myopathy Pure spastic paraplegia Purine nucleoside phosphorylase Purpura fulminans Pustulo-psoriatic hyperostotic spondylarthritis Pustulosis palmaris et plantaris 763 Pycnodysostosis PYCR1-related DeBarsy 3003 Pyknoachondrogenesis 3005 Pyle disease Pyoderma gangrenosum Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

45 Pyoderma gangrenosum - acne - suppurative hidradenitis Pyogenic arthritis - pyoderma gangrenosum - acne Pyogenic bacterial infections due to MyD Pyomyositis Pyridoxal phosphate-responsive seizures 3006 Pyridoxine-dependent epilepsy 3008 Pyruvate carboxylase 765 Pyruvate dehydrogenase Pyruvate dehydrogenase E1-alpha Pyruvate dehydrogenase E1-beta Pyruvate dehydrogenase E Pyruvate dehydrogenase E Pyruvate dehydrogenase E3-binding protein Pyruvate dehydrogenase phosphatase 781 Q fever 3010 Qazi-Markouizos Quebec platelet disorder 346 Quinquaud's decalvans folliculitis 770 Rabies 769 Rabson-Mendenhall 1121 Radial - tibial hypoplasia Radial hemimelia Radial hemimelia, bilateral Radial hemimelia, unilateral 2252 Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema 3025 Radial ray agenesis 3026 Radial ray hypoplasia - choanal atresia Radiation myelitis Radiation proctitis Radicular dentin dysplasia 3013 Radiculomegaly of canine teethcongenital cataract 3014 Radio-digito-facial dysplasia 3015 Radio-renal Radio-ulnar synostosis - amegakaryocytic thrombocytopenia 3270 Radioulnar synostosis - intellectual deficit - hypotonia Radio-ulnar synostosis, bilateral Radio-ulnar synostosis, unilateral 3016 Radius absent - anogenital anomalies 3018 Rambaud-Galian 3019 Ramon 3020 Ramsay-Hunt 3021 RAPADILINO Rapidly involuting congenital hemangioma Rapidly progressive glomerulonephritis Rapid-onset childhood obesityhypothalamic dysfunctionhypoventilation-autonomic dysregulation Rapid-onset dystonia-parkinsonism 3022 Rapp-Hodgkin Rare adenocarcinoma of the breast Rare adenocarcinoma of the corpus uteri Rare benign ovarian tumor Rare deafness Rare endometriosis Rare isolated myopia Rare squamous cell carcinoma of the cervix uteri RAS-associated autoimmune lymphoproliferative disease 1929 Rasmussen subacute encephalitis 3023 Rasmussen-Johnsen-Thomsen Rat-bite fever RAVINE Reactive arthritis Reading seizures 1115 Recessive aplasia cutis congenita of limbs Recessive hereditary methemoglobinemia Recessive hereditary methemoglobinemia Recessive intellectual disability - motor dysfunction - multiple joint contractures Recessive mitochondrial ataxic 461 Recessive X-linked ichthyosis Recombinant Rectal duplication Rectal endocrine tumor Recurrent acute pancreatitis Recurrent hepatitis C virus induced liver disease in liver transplant recipients Recurrent infection due to specific granule Recurrent infections - inflammatory due to zinc metabolism disorder Recurrent infections associated with rare immunoglobulin isos Recurrent Neisseria infections due to factor D Recurrent respiratory papillomatosis Reducing body myopathy 310 Reflex epilepsy Refractory anemia Refractory anemia with excess blasts Refractory anemia with excess blasts in transformation Refractory anemia with excess blasts Refractory anemia with excess blasts Refractory cytopenia with multilineage dysplasia 773 Refsum disease Regional ectodermal dysplasia with total bilateral cleft Regional odontodysplasia Reis-Bücklers corneal dystrophy Rejection after corneal transplantation Relapsing epidemic thyphus Relapsing fever 728 Relapsing polychondritis 2838 Renal caliceal diverticuli - deafness Renal cell carcinoma 1475 Renal coloboma Renal cysts and diabetes Renal dysplasia 1850 Renal dysplasia - megalocystis - sirenomelia Renal glucosuria Renal hypoplasia Renal nutcracker Renal pseudohypoaldosteronism Renal tubular acidosis - anemia Renal tubular acidosis - deafness Renal tubular acidosis Renal tubular dysgenesis Renal tubular dysgenesis drugs-related Renal tubular dysgenesis due to twin-twin transfusion Renal tubular dysgenesis of genetic origin Renal tubulopathy - encephalopathy - liver failure 1092 Renal-genital-middle ear anomalies Renal-hepatic-pancreatic dysplasia 774 Rendu-Osler-Weber disease Renier-Gabreels-Jasper Renin-angiotensin-aldosterone systemblocker-induced angioedema 3242 Renpenning Resistance to thyrotropin-releasing hormone Respiratory bronchiolitis - interstitial lung disease Response to polyethylene glycol/ interferon-ribavirin in hepatitis C virus Reticular dysgenesis Reticular dystrophy of the retinal pigment epithelium Reticular perineurioma Reticulate acropigmentation of Kitamura Retinal arteries tortuosity Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

46 71213 Retinal cavernous hemangioma 1574 Retinal degeneration - nanophthalmos - glaucoma Retinal dystrophy 791 Retinitis pigmentosa 3085 Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism Retinitis pigmentosa and intellectual deficit due to monosomy Xp Retinitis punctata albescens 790 Retinoblastoma 3087 Retinohepatoendocrinologic 3088 Retinopathy - anemia- central nervous system anomalies Retinopathy of prematurity Retinopathy, Burgess-Black Retrocerebellar cyst Retroperitoneal fibrosis 778 Rett Reunion island's Larsen Reversible cerebral vasoconstriction 3096 Reye's 779 Reynolds Rh Rhabdoid tumor 780 Rhabdomyosarcoma Rhabdomyosarcoma of the cervix uteri Rhabdomyosarcoma of the corpus uteri 3099 Rheumatic fever 177 Rhizomelic chondrodysplasia punctata 2831 Rhizomelic dysplasia, Patterson-Lowry Rhizomelic pseudopolyarthritis 3098 Rhizomelic Rhombencephalosynapsis RHYNS 1399 Richards-Rundle 3101 Richieri Costa-da Silva 3102 Richieri Costa-Pereira Rickettsialpox Riedel thyroiditis Rieger's anomaly Right aortic arch Right inferior vena cava connecting to left-sided atrium Right superior vena cava connecting to left-sided atrium Right temporal lobar atrophy 439 Right ventricular hypoplasia Rigid spine 1437 Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Ring chromosome Y Ring dermoid of cornea 169 Ringed hair disease Rippling muscle disease Rippling muscle disease with myasthenia gravis 3103 Roberts 3104 Robin sequence - oligodactyly Robinow 3105 Robinow-like 3106 Robinow-Sorauf 529 Roch-Leri mesosomatous lipomatosis Rocky Mountain spotted fever Rolandic epilepsy - paroxysmal exerciseinduced dystonia - writer's cramp Rolandic epilepsy - speech dyspraxia Rolled and spiral hairs - palmoplantar keratoderma Romano-Ward 3110 Rombo Roothless teeth Rosette-forming glioneuronal tumour of the fourth ventricule Rosselli-Gulienetti 2909 Rothmund-Thomson Rothmund-Thomson Rothmund-Thomson Rotor Round-cell liposarcoma 3115 Roussy-Levy Rubella panencephalitis 783 Rubinstein-Taybi 3118 Rudiger 3121 Ruvalcaba 3124 Saccharopinuria 1773 Sacrococcygeal dysgenesis association 794 Saethre-Chotzen Sagliker Saguenay-Lac-St. Jean cytochrome oxidase 3128 Sakati-Nyhan Salamon-milicevic Saldino-Mainzer Salivary gland cancer of the breast 795 Salmonellosis 796 Sandhoff disease Sandifer Sanfilippo A Sanfilippo B Sanfilippo C Sanfilippo D 2323 Sanjad-Sakati 793 SAPHO Sarcocystosis 797 Sarcoidosis 3129 Sarcosinemia 3130 Satoyoshi 3132 Say-Barber-Miller 3133 Say-Field-Coldwell 1003 Scalp defects - postaxial polydactyly 2036 Scalp-ear-nipple Scapuloperoneal amyotrophy 3134 SCARF Scarring in glaucoma filtration surgical procedures Scheie 2353 Schilbach-Rott Schilder disease 1830 Schimke immuno-osseous dysplasia 798 Schinzel-Giedion Schisis association 1247 Schistosomiasis 799 Schizencephaly 3141 Schizophrenia - intellectual deficit - deafness - retinitis 3144 Schneckenbecken dysplasia Schnitzler Schnyder corneal dystrophy Schopf-Schulz-Passarge 800 Schwartz-Jampel 185 Scimitar 801 Scleroderma Scleromyxedema Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

47 90400 Scleromyxedema without monoclonal gammopathy Sclerosing mesenteritis Sclerosing perineurioma 3152 Sclerosteosis 806 Scott Scrub typhus Sea-blue histiocytosis 807 Sebastian 841 Sebocystomatosis Seborrhea-like dermatitis with psoriasiform elements 808 Seckel Second branchial cleft anomaly Secondary acute transverse myelitis Secondary amyloidosis Secondary central precocious puberty Secondary ciliary dyskinesia Secondary intestinal lymphangiectasia Secondary pulmonary hemosiderosis Secondary short bowel Secondary syringomyelia Segmental odontomaxillary dysplasia Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus Seizures - intellectual deficit due to hydroxylysinuria Selective pituitary resistance to thyroid hormone Self-healing collodion baby Self-healing papular mucinosis Semantic dementia Semilobar holoprosencephaly Senior-Boichis 3156 Senior-Loken Sensorineural deafness with dilated cardiomyopathy Sensorineural hearing loss - early greying - essential tremor Sensory ataxic neuropathy - dysarthria - ophthalmoparesis 2683 Sensory neuropathy - spastic paraplegia Sepsis in premature infants Septate vagina 3157 Septo-optic dysplasia 1853 Septooptic dysplasia - digital anomalies Septopreoptic holoprosencephaly SERKAL Serotonin Serous or mucinous cystadenoma of childhood 2853 Serpentine fibula - polycystic kidneys Serpiginous choroiditis SeSAME Severe achondroplasia - developmental delay - acanthosis nigricans Severe acute respiratory Severe closed traumatic brain injury Severe combined immuno Severe combined immuno - microcephaly - growth retardation - sensitivity to ionizing radiation Severe combined immuno and related disorders 277 Severe combined immuno due to adenosine deaminase Severe combined immuno due to CORO1A Severe combined immuno due to CRAC channel dysfunction Severe combined immuno due to DOCK Severe combined immuno due to LCK Severe combined immuno T- B+ due to CD3delta/CD3epsilon/CD3zeta Severe combined immuno T- B+ due to CD Severe combined immuno T- B+ due to gamma chain Severe combined immuno T- B+ due to IL-7Ralpha Severe combined immuno T- B+ due to JAK Severe combined immuno T+ B+ due to partial RAG1 275 Severe combined immuno, alymphocytotic Severe congenital hypochromic anemia with ringed sideroblasts Severe congenital nemaline myopathy Severe congenital neutropenia Severe early-onset axonal neuropathy due to NEFL Severe hemophilia A Severe hemophilia B Severe hypospadias Severe immune-mediated enteropathy Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia Severe intellectual deficit and progressive spastic paraplegia Severe neonatal-onset encephalopathy with microcephaly Severe T-cell immuno - congenital alopecia - nail dystrophy 3078 Severe X-linked intellectual deficit, Gustavson Severe X-linked mitochondrial encephalomyopathy 3162 Sezary's Sheehan 1147 Sheldon-Hall 810 Shigellosis Shone complex Short chain 3-hydroxyacyl-CoA dehydrogenase Short fifth metacarpals - insulin resistance 1505 Short rib-polydactyly Short rib-polydactyly, Beemer- Langer Short rib-polydactyly, Majewski Short rib-polydactyly, Saldino- Noonan Short rib-polydactyly, Verma- Naumoff 2858 Short stature - contractures - hypotonia 2994 Short stature - craniofacial anomalies - genital hypoplasia 2866 Short stature - deafness - neutrophil dysfunction - dysmorphism 1088 Short stature - heart defect - craniofacial anomalies 2649 Short stature - intellectual deficit - eye anomalies - cleft lip/palate 2651 Short stature - intellectual deficit - eye defects - absent patella Short stature - kidney insufficiency - ophtalmological anomaly - growth retardation - ectodermal dysplasia 2861 Short stature - microcephaly - heart defect Short stature - pituitary and cerebellar defects - small sella turcica 2864 Short stature - prognathism - short femoral necks 2868 Short stature - valvular heart disease - characteristic facies 2865 Short stature - webbed neck - heart disease 2863 Short stature - wormian bones - dextrocardia 629 Short stature due to growth hormone qualitative anomaly 632 Short stature due to isolated growth hormone with X-linked hypogammaglobulinemia Short stature due to primary acid-labile subunit 2867 Short stature, Brussels Short stature-delayed bone age due to thyroid hormone metabolism 3163 SHORT 2832 Short tarsus - absence of lower eyelashes 2580 Shoulder and girdle defects - familial intellectual deficit 1940 Shoulder and thorax deformity - congenital heart disease Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

48 2462 Shprintzen-Goldberg 811 Shwachman-Diamond Shy-Drager 812 Sialidosis Sialidosis Sialuria, French SIBIDS Sick sinus Sickle cell - beta-thalassemia disease Sickle cell - hemoglobin C disease Sickle cell - hemoglobin D disease Sickle cell - hemoglobin E disease 232 Sickle cell anemia 3167 Siegler-Brewer-Carey Silent sinus 3168 Sillence 813 Silver-Russell Silver-Russell due to 11p15 microduplication Silver-Russell due to 7p11.2p13 microduplication Silver-Russell due to imprinting defect of 11p Silver-Russell due to maternal uniparental disomy of chromosome Silver-Russell due to maternal uniparental disomy of chromosome Simple cryoglobulinemia 373 Simpson-Golabi-Behmel Simpson-Golabi-Behmel Sinding-Larsen-Johansson disease Single ventricular septal defect Singleton-Merten dysplasia 1260 Sino-auricular heart block Sinus histiocytosis with massive lymphadenopathy 3122 Sinus node disease - myopia 3169 Sirenomelia 2882 Sitosterolemia Situs ambiguus Situs inversus totalis 816 Sjögren-Larsson 1858 Skeletal dysplasia - epilepsy - short stature 1436 Skeletal dysplasia - intellectual deficit 1841 Skeletal dysplasia - orofacial anomalies Skin fragility-woolly hair-palmoplantar keratoderma Small bowel adenocarcinoma Small bowel leiomyosarcoma Small cell carcinoma of the bladder Small cell lung cancer Smith-Fineman-Myers 818 Smith-Lemli-Opitz 819 Smith-Magenis Smith-McCort dysplasia Smouldering systemic mastocytosis 820 Sneddon Snowflake vitreoretinal degeneration Solar urticaria Solitary bone cyst 2286 Solitary median maxillary central incisor Solitary necrotic tumor of the liver Solitary rectal ulcer Somatostatinoma Sorsby's fundus dystrophy 821 Sotos Southeast asian ovalocytosis Sparse hair - short stature - skin anomalies Spasmus nutans 2572 Spastic ataxia - corneal dystrophy 1182 Spastic ataxia with congenital miosis 98 Spastic ataxia, Charlevoix-Saguenay 1680 Spastic diplegia, infantile 2815 Spastic paraparesis - deafness 2819 Spastic paraplegia - facial-cutaneous lesions 2818 Spastic paraplegia - glaucoma - intellectual deficit 2820 Spastic paraplegia - nephritis - deafness 2821 Spastic paraplegia - neuropathy - poikiloderma 2826 Spastic paraplegia - precocious puberty Spastic paraplegia Spastic quadriplegia - retinitis pigmentosa - intellectual deficit 3175 Spasticity - intellectual deficit - X-linked epilepsy Specific antibody with normal immunoglobulin concentrations and normal numbers of B cells Speech-language disorder Spermatocytic seminoma Spherocytic elliptocytosis Spheroid body myopathy 3176 Spina bifida - hypospadias Spina bifida aperta Spina bifida cystica 1217 Spinal atrophy - ophthalmoplegia - pyramidal Spinal cord injury Spinal muscular atrophy - Dandy-Walker complex - cataracts Spinal muscular atrophy with respiratory distress Spindle cell hemangioma 1185 Spinocerebellar ataxia - dysmorphism Spinocerebellar ataxia Spinocerebellar ataxia 1 with axonal neuropathy Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia Spinocerebellar ataxia with axonal neuropathy Spinocerebellar ataxia with epilepsy Spirillary rat-bite fever Splenic diffuse red pulp lymphoma Splenic marginal zone lymphoma 2063 Splenogonadal fusion - limb defects - micrognathia Split foot Split foot, bilateral Split foot, unilateral Split hand Split hand - split foot - deafness 2437 Split hand - urinary anomalies - spina bifida Split hand, bilateral Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

49 Split hand, unilateral 2440 Split hand-split foot malformation SPONASTRIME dysplasia 3180 Spondylocamptodactyly Spondylocostal dysostosis - anal and genitourinary malformations 1855 Spondyloenchondrodysplasia Spondyloepimetaphyseal dysplasia - abnormal dentition Spondyloepimetaphyseal dysplasia - hypotrichosis Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification Spondyloepimetaphyseal dysplasia congenita, Strudwick Spondyloepimetaphyseal dysplasia with joint laxity Spondyloepimetaphyseal dysplasia with multiple dislocations Spondyloepimetaphyseal dysplasia, aggrecan Spondyloepimetaphyseal dysplasia, Bieganski Spondyloepimetaphyseal dysplasia, Genevieve Spondyloepimetaphyseal dysplasia, Handigodu Spondyloepimetaphyseal dysplasia, Irapa Spondyloepimetaphyseal dysplasia, matrilin Spondyloepimetaphyseal dysplasia, Missouri Spondyloepimetaphyseal dysplasia, Pakistani Spondyloepimetaphyseal dysplasia, Shohat Spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda, Kohn Spondyloepiphyseal dysplasia, Cantu Spondyloepiphyseal dysplasia, Kimberley Spondyloepiphyseal dysplasia, MacDermot Spondyloepiphyseal dysplasia, Maroteaux Spondyloepiphyseal dysplasia, Nishimura Spondyloepiphyseal dysplasia, Reardon Spondylo-megaepiphyseal-metaphyseal dysplasia Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism Spondylometaphyseal dysplasia - cone-rod dystrophy Spondylometaphyseal dysplasia with combined immuno Spondylometaphyseal dysplasia, A Spondylometaphyseal dysplasia, 'corner fracture' Spondylometaphyseal dysplasia, Golden Spondylometaphyseal dysplasia, Kozlowski Spondylometaphyseal dysplasia, Schmidt Spondylometaphyseal dysplasia, Sedaghatian Spondylo-ocular 1856 Spondyloperipheral dysplasia - short ulna Spontaneous periodic hypothermia Sporadic achalasia Sporadic adult-onset ataxia of unknown etiology Sporadic idiopathic steroid-resistant nephrotic Sporadic idiopathic steroid-resistant nephrotic with collapsing glomerulopathy Sporadic idiopathic steroid-resistant nephrotic with diffuse mesangial proliferation Sporadic idiopathic steroid-resistant nephrotic with diffuse mesangial sclerosis Sporadic idiopathic steroid-resistant nephrotic with focal segmental hyalinosis Sporadic idiopathic steroid-resistant nephrotic with minimal changes 611 Sporadic inclusion body myositis Sporadic infantile bilateral striatal necrosis Sporadic Leigh Sporadic pheochromocytoma Sporadic pheochromocytoma/secreting paraganglioma Sporadic secreting paraganglioma 826 Sporotrichosis 3181 Sprengel deformity Squamous cell carcinoma of head and neck Squamous cell carcinoma of the corpus uteri St Louis encephalitis 3183 Stampe-Sorensen Stapes ankylosis with broad thumbs and toes Staphylococcal necrotizing pneumonia Staphylococcal scalded skin Staphylococcal scarlet fever Staphylococcal toxic-shock 827 Stargardt disease Startle epilepsy 3184 Steatocystoma multiplex - natal teeth 273 Steinert myotonic dystrophy Stem cell transplantation Stenosis and/or thrombosis of fistula in hemodialysis Stenosis in synthetic grafts used in hemodialysis Stenosis or atrophy of the coronary ostium Sterile multifocal osteomyelitis with periostitis and pustulosis 2017 Sternal cleft 3195 Sternal malformation - vascular dysplasia 3194 Stern-Lubinsky-Durrie 3196 Steroid dehydrogenase - dental anomalies Steroid-responsive encephalopathy associated with autoimmune thyroiditis Steroid-sensitive nephrotic without renal biopsy Stevens-Johnson 828 Stickler Stickler Stickler Stickler Stiff skin 3198 Stiff-man 3199 Stimmler 3200 Stoll-Alembik-Finck 3204 Stormorken-Sjaastad-Langslet Straddling and/or overriding mitral valve Straddling or overriding tricuspid valve Streptobacillary rat-bite fever Streptococcal toxic-shock Stromal keratitis 76 Strongyloidiasis 830 Stuccokeratosis 3205 Sturge-Weber 3206 Stuve-Wiedemann Suarez-Stickler Subacute cutaneous lupus erythematosus Subacute inflammatory demyelinating polyneuropathy 2806 Subacute sclerosing leukoencephalitis Subaortic course of innominate vein 3191 Subaortic stenosis - short stature Subcorneal pustular dermatosis Subcortical band heterotopia Sub-cortical nodular heterotopia Subcutaneous panniculitis-like T-cell lymphoma Subependymal giant cell astrocytoma Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

50 Subependymal nodular heterotopia Subependymoma Subepithelial mucinous corneal dystrophy Submucosal cleft palate 3190 Subpulmonary stenosis Subtotal septate uterus 936 Succinic acidemia 832 Succinyl-CoA acetoacetate transferase Sudden infant death - dysgenesis of the testes Sulfite oxidase due to molybdenum cofactor 3210 Summitt SUNCT 455 Superficial epidermolytic ichthyosis Superficial pemphigus Superficial siderosis Superior limbic keratoconjunctivitis Supernumerary breasts Supernumerary nostril 3193 Supravalvular aortic stenosis 3192 Supravalvular pulmonary stenosis 838 Susac Susceptibility to adverse reaction due to clozapine Susceptibility to adverse reaction due to mercaptopurine 2566 Susceptibility to chronic infection by Epstein-Barr virus Susceptibility to respiratory infections associated with CD8alpha chain mutation 3243 Sweet Symbrachydactyly of hand and foot, bilateral Symbrachydactyly of hand and foot, unilateral 1570 Symbrachydactyly of hands and feet 1314 Symmetrical thalamic calcifications Sympathetic ophthalmia 3246 Symphalangism with multiple anomalies of hands and feet Symptomatic form of Coffin-Lowry 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 Synaptic congenital myasthenic s Syndactyly - telecanthus - anogenital and renal malformations Syndactyly Syndactyly Syndactyly Syndactyly Syndactyly Syndactyly Syndactyly Syndactyly-polydactyly-ear lobe Syndromic diarrhea Syndromic microphthalmia Syndromic multisystem autoimmune disease due to Itch Syndromic optic nerve hypoplasia Syndromic orbital border hypoplasia Syndromic X-linked ichthyosis Syndromic X-linked intellectual deficit Syndromic X-linked intellectual deficit due to JARID1C mutation 3263 Syngnathia - cleft palate 3262 Syngnathia multiple anomalies 3268 Synostosis - microcephaly - scoliosis 3273 Synovial sarcoma Synpolydactyly Synpolydactyly Synpolydactyly Synspondylism 840 Syringocystadenoma papilliferum 3280 Syringomyelia 2039 Systemic arteriovenous fistula 2467 Systemic mastocytosis Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease Systemic monochloroacetate poisoning Systemic sclerosis Systemic-onset juvenile idiopathic arthritis 3284 Tachycardia - hypertension - microphthalmos - hyperglycinuria TACI-related selective of IgA 3287 Takayasu arteritis Tako-Tsubo cardiomyopathy Talo-patello-scaphoid osteolysis Tangier disease 1776 Tardive dyskinesia 2886 TARP Tarsal kink 1412 Tarsal-carpal coalition 2731 Taurodontia - absent teeth - sparse hair 3289 Taurodontism Taussig-Bing 845 Tay-Sachs disease T-cell large granular lymphocyte leukemia T-cell prolymphocytic leukemia T-cell/histiocyte rich large B cell lymphoma 3291 Teebi-Shaltout 3292 Tel Hashomer camptodactyly Telangiectasia macularis eruptiva perstans 3293 Telecanthus - hypertelorism - strabismus - pes cavus TEMPI 1777 Temtamy Teratoma of the central nervous system Terminal osseous dysplasia - pigmentary defects Terminal transverse defects of arm Tessier number 4 facial cleft Tessier number 5 facial cleft Tessier number 6 facial cleft 842 Testicular seminoma 3000 Testotoxicosis 3299 Tetanus Tetraamelia 3301 Tetraamelia - multiple malformations Tetragametic chimerism Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 3303 Tetralogy of Fallot 2564 Tetramelic monodactyly 3305 Tetraploidy 3309 Tetrasomy 5p 3310 Tetrasomy 9p 884 Tetrasomy 12p 3307 Tetrasomy 18p Tetrasomy 21 9 Tetrasomy X 3312 Thalidomide embryopathy 1860 Thanatophoric dwarfism I Thanatophoric dwarfism II 2655 Thanatophoric dysplasia Thanatophoric dysplasia, Glasgow variant Theca steroid-producing cell malignant tumor, not further specified Thiamine-responsive encephalopathy Thiamine-responsive megaloblastic anemia Thiamin-responsive maple syrup urine disease 2405 Thickened earlobes - conductive deafness Thiel-Behnke corneal dystrophy 3314 Thiemann disease, familial form 1506 Thin ribs - tubular bones - dysmorphism Thinking seizures 3315 Thiopurine S-methyltransferase Third branchial cleft anomaly 3316 Thomas Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

51 614 Thomsen and Becker disease 1861 Thoracic dysplasia-hydrocephalus Thoracic outlet 1759 Thoraco-abdominal enteric duplication 3317 Thoracolaryngopelvic dysplasia Thoracolumbosacral spina bifida aperta Thoracolumbosacral spina bifida cystica 1803 Thoracomelic dysplasia 496 Thost-Unna palmoplantar keratoderma 3320 Thrombocytopenia - absent radius 3323 Thrombocytopenia - Robin sequence Thrombotic thrombocytopenic purpura 2944 Thumb absence - hypoplastic halluces 2251 Thumb deformity - alopecia - pigmentation anomaly 1078 Thumb stiffness - brachydactyly - intellectual deficit Thymic carcinoma Thymic endocrine tumor 3398 Thymic epithelial neoplasm Thymic neuroendocrine carcinoma 3326 Thymic-renal-anal-lung dysplasia Thymoma Thymoma A Thymoma AB Thymoma B 3327 Thyrocerebrorenal 489 Thyroglossal duct cyst Thyroid ectopia Thyroid hemiagenesis Thyroid hypoplasia Thyroid lymphoma Thyroid pyramidal lobe Thyrotoxic periodic paralysis Thyrotroph adenoma 3329 Tibial aplasia - ectrodactyly Tibial hemimelia Tibial hemimelia, bilateral Tibial hemimelia, unilateral 609 Tibial muscular dystrophy Tibio-fibular synostosis 297 Tick-borne encephalitis Tietz Timothy TMCO1 defect Tolosa-Hunt 1920 Toluene embryopathy 3336 Tomé-Brunet-Fardeau 3460 Torg-Winchester 3338 Toriello-Carey 3339 Toriello-Lacassie-Droste 3340 Torres-Aybar Torsade-de-pointes with short coupling interval 3341 Torticollis - keloids - cryptorchidism - renal dysplasia Total congenital cataract Total intestinal aganglionosis Total septate uterus Total spina bifida aperta Total spina bifida cystica 857 Townes-Brocks Toxic epidermal necrolysis Toxic maculopathy due to antimalarial drugs Toxic oil Toxic or/and iatrogenic neuropathy 3343 Toxocariasis 3346 Tracheal agenesis 3347 Tracheobronchomegaly 3348 Tracheobronchopathia osteochondroplastica 2042 Tracheo-esophageal fistula - hypospadias Transaldolase 859 Transcobalamin II Transient bullous dermolysis of the newborn Transient congenital hypothyroidism Transient erythroblastopenia of childhood 2312 Transient familial neonatal hyperbilirubinemia Transient hyperammonemia of the newborn Transient hypogammaglobulinemia of infancy 1153 Transient neonatal arthrogryposis Transient neonatal diabetes mellitus Transient pseudohypoaldosteronism Transitional cell carcinoma of the corpus uteri Transmissible spongiform encephalopathies Transthyretin-related familial amyloid cardiomyopathy 2486 Transverse limb - hemangioma Transverse vaginal septum TRAPS 861 Treacher-Collins Treatment of aspiration pneumotitis requiring intubation and mechanical ventilation Treatment of cardiogenic shock 3349 Treft-Sanborn-Carey 3350 Tremor - nystagmus - duodenal ulcer Trench fever 1463 Triatrial heart 863 Trichinellosis 3351 Trichodental 3352 Tricho-dento-osseous 3360 Trichodermal - intellectual deficit 3353 Trichodermodysplasia - dental alterations Trichodysplasia - amelogenesis imperfecta Trichodysplasia - onychogryposis - deafness 3361 Trichodysplasia - xeroderma Tricho-facio-hypohidrotic 864 Trichofolliculoma 865 Trichomalacia 3362 Trichomegaly - cataract - hereditary spherocytosis 3363 Trichomegaly - retina pigmentary degeneration - dwarfism 3354 Tricho-oculo-dermo-vertebral 3355 Tricho-odonto-onychial dysplasia 3356 Tricho-odonto-onycho-dermal 3357 Tricho-odonto-onychodysplasia - dominant syndactyly Tricho-odonto-onychodysplasia - pili torti Tricho-odonto-onycho-hypohidrotic dysplasia with cataract Tricho-onychodysplasia - xeroderma 1264 Tricho-retino-dento-digital Trichorhinophalangeal 1 and Trichostasis spinulosa Trichothiodystrophy 1209 Tricuspid atresia Tricuspid valve agenesis Tricuspid valve prolapse Trigeminal autonomic cephalalgia Trigeminal neuralgia 3368 Trigonocephaly - bifid nose - acral anomalies 3365 Trigonocephaly - broad thumbs 3369 Trigonocephaly - short stature - developmental delay Trimethylaminuria 3374 Triopia 868 Triose phosphate-isomerase 2950 Triphalangeal thumb - polysyndactyly 2947 Triphalangeal thumbs - brachyectrodactyly 869 Triple A 3376 Triploidy 3377 Trismus - pseudocamptodactyly Trisomy 1q 1738 Trisomy 4p 1742 Trisomy 5p Trisomy 8p Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

52 1752 Trisomy 8q 236 Trisomy 9p Trisomy 10p 3378 Trisomy Trisomy 17p 3380 Trisomy Trisomy 18p Trisomy 20p 3375 Trisomy X 1762 Trisomy Xq Tritanopia 1863 Trochlear dysplasia Trochlear nerve palsy Tropical endomyocardial fibrosis Tropical pancreatitis Tropical spastic paraparesis True neurogenic thoracic outlet True unicornuate uterus True vascular thoracic outlet Truncal dystonia 3384 Truncus arteriosus 3389 Tuberculosis 805 Tuberous sclerosis 2593 Tubular aggregate myopathy Tubular duplication of the esophagus Tubular renal disease - cardiomyopathy Tubulointerstitial nephritis and uveitis 1063 Tufted angioma 3392 Tularemia Tumoral calcinosis 879 Tungiasis Tunnel subaortic stenosis Turcot with polyposis 881 Turner Turner due to structural X chromosome anomalies Twin to twin transfusion Type II mixed cryoglobulinemia Type III mixed cryoglobulinemia Typhoid Typical hemolytic uremic Typical nemaline myopathy Typical urticaria pigmentosa 3402 Tyrosine oxidase temporary 882 Tyrosinemia Tyrosinemia Tyrosinemia Uhl anomaly 3404 Ulbright-Hodes 3406 Ulerythema ophryogenesis 2249 Ulna hypoplasia - intellectual deficit 1837 Ulna metaphyseal dysplasia Ulnar hemimelia Ulnar hemimelia, bilateral Ulnar hemimelia, unilateral 1122 Ulnar hypoplasia - lobster-claw deformity of feet Ulnar/fibula ray defect - brachydactyly 3138 Ulnar-mammary 3405 Umbilical cord ulceration - intestinal atresia Unclassified chronic myeloproliferative disease Unclassified glomerulonephritis Unclassified intestinal pseudoobstruction Unclassified juvenile idiopathic arthritis Unclassified metaphyseal chondrodysplasia Unclassified myelodysplastic Unclassified myelodysplastic/ myeloproliferative disease 1410 Uncombable hair Undetermined colitis Undifferentiated carcinoma of the corpus uteri Undifferentiated connective tissue Undifferentiated embryonal sarcoma of the liver Unicervical bicornuate uterus Unilateral choanal atresia Unilateral congenital megacalycosis Unilateral focal polymicrogyria Unilateral hemispheric polymicrogyria Unilateral multicystic renal dysplasia Unilateral polymicrogyria Unilateral renal agenesis Unilateral renal dysplasia Unilateral renal hypoplasia Univentricular cardiopathy 1464 Univentricular heart Univentricular heart with single atrioventricular valve Unknown leukodystrophy 308 Unverricht-Lundborg disease 3408 Upington disease 2489 Upper limb defect - eye and ear abnormalities Upper limb hypertrophy 2497 Upper limb mesomelic dysplasia Upper thoracic spina bifida aperta Upper thoracic spina bifida cystica 488 Urachal cyst 3409 Urban-Rogers-Meyer Uremic pruritus Urocanic aciduria Urticaria pigmentosa 886 Usher Usher Usher Usher Uterine cervical aplasia and agenesis Uterine hypoplasia 1473 Uveal coloboma - cleft lip and palate - intellectual deficit Uveal melanoma UV-sensitive 3412 VACTERL with hydrocephalus 887 VACTERL/VATER association Vaginal atresia Vaginal carcinoma Vaginal germ cell malignant tumor Valvular pulmonary stenosis 3417 Van den Bosch 2460 Van den Ende-Gupta 888 Van Der Woude 3419 Van Regemorter-Pierquin-Vamos 3160 Vascular disruption sequence 2452 Vascular malposition 3423 Vasquez-Hurst-Sotos 1053 Vein of Galen aneurysm 3424 Velo-facial-skeletal 3201 Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence 1480 Ventricular septal defect 3429 Verloove Vanhorick-Brubakk Vernal keratoconjunctivitis Verrucous nevus Very long chain acyl-coa dehydrogenase Vestibular schwannoma Vestibular torticollis 1493 Vici VIPoma 341 Viral hemorrhagic fever Virus-associated trichodysplasia spinulosa Visceral calciphylaxis Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay 28 Vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia cbla Vitamin B12-responsive methylmalonic acidemia cblb 27 Vitamin B12-unresponsive methylmalonic acidemia Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

53 Vitiligo-associated autoimmune disease 3437 Vogt-Koyanagi-Harada disease Von Hippel anomaly 892 Von Hippel-Lindau disease 3439 Von Voss-Cherstvoy 903 Von Willebrand disease Von Willebrand disease Von Willebrand disease Von Willebrand disease 2A Von Willebrand disease 2B Von Willebrand disease 2M Von Willebrand disease 2N Von Willebrand disease Vulvar intraepithelial neoplasia Vulvovaginal gingival Vulvovaginal rhabdomyosarcoma 2804 W 3440 Waardenburg 894 Waardenburg Waardenburg Waardenburg Waardenburg, Pierpont 897 Waardenburg-Shah 898 Wagner disease 893 WAGR Walbaum-Dehaene-Schlemmer Waldenström macroglobulinemia 899 Walker-Warburg Warsaw breakage Warty dyskeratoma Waterhouse-Friderichsen 3444 Watson 3447 Weaver 3446 Weaver-like 3448 Weaver-Williams 900 Wegener granulomatosis 3449 Weill-Marchesani 3344 Weismann-Netter 3450 Weissenbacher- Zweymuller Well differentiated endocrine neoplasm of the corpus uteri Well-differentiated fetal adenocarcinoma of the lung Well-differentiated liposarcoma Well-differentiated thymic neuroendocrine carcinoma 901 Wells 902 Werner Wesser-vistnes ectodermal dysplasia with palatal paralysis 3451 West Western equine encephalitis West-Nile encephalitis WHIM 3452 Whipple disease White fibrous papulosis of the neck 2475 White forelock with malformations 3207 White matter hypoplasia - corpus callosum agenesis - intellectual deficit White sponge nevus 1489 Whooping cough 3454 Wieacker-Wolff 3455 Wiedemann-Rautenstrauch 3456 Wildervanck 904 Williams 3458 Wilms tumor - radial bilateral aplasia 905 Wilson disease 3459 Wilson-Turner 906 Wiskott-Aldrich 1667 Wolcott-Rallison 280 Wolf-Hirschhorn 3463 Wolfram Wolman disease 3464 Woodhouse-Sakati 170 Woolly hair 1409 Woolly hair - hypotrichosis - everted lower lip - outstanding ears Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy Woolly hair nevus 3465 Worster-Drought Wound botulism Wound myiasis 2834 Wrinkly skin 3466 WT limb-blood Wyburn-Mason X small rings Xanthinuria I Xanthinuria II Xanthoma disseminatum 3468 Xeroderma - talipes - enamel defects 910 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/cockayne complex 3469 XK aprosencephaly 43 X-linked adrenoleukodystrophy 47 X-linked agammaglobulinemia X-linked Alport 596 X-linked centronuclear myopathy X-linked cerebellar ataxia 1175 X-linked cerebellar ataxia X-linked cerebral adrenoleukodystrophy X-linked Charcot-Marie-Tooth disease X-linked Charcot-Marie-Tooth disease X-linked Charcot-Marie-Tooth disease X-linked Charcot-Marie-Tooth disease X-linked Charcot-Marie-Tooth disease X-linked Charcot-Marie-Tooth disease X-linked complicated corpus callosum dysgenesis X-linked cone dysfunction with myopia X-linked congenital generalized hypertrichosis 1661 X-linked corneal dermoid X-linked creatine transporter 1018 X-linked diffuse leiomyomatosis - Alport 1145 X-linked distal arthrogryposis multiplex congenita X-linked distal spinal muscular atrophy X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, Chassaing-Lacombe X-linked dominant intellectual deficit - epilepsy X-linked dystonia-parkinsonism X-linked Emery-Dreifuss muscular dystrophy X-linked endothelial corneal dystrophy X-linked epilepsy - learning disabilities - behavior disorders X-linked hereditary sensory and autonomic neuropathy with deafness X-linked hyper-igm X-linked hypophosphatemia X-linked immune dysregulation - polyendocrinopathy - enteropathy 2571 X-linked immunoneurologic disorder Orphanet Report Series - List of rare diseases - listed in alphabetical number - December

54 85338 X-linked intellectual deficit - ataxia - apraxia 2076 X-linked intellectual deficit - epilepsy X-linked intellectual deficit - hypotonic face X-linked intellectual deficit with isolated growth hormone 776 X-linked intellectual deficit with marfanoid habitus X-linked intellectual deficit, Fichera X-linked intellectual deficit, Golabi-Ito- Hall X-linked intellectual deficit, Najm X-linked intellectual deficit, Porteous X-linked intellectual deficit, South African X-linked intellectual deficit, Stoll X-linked intellectual deficit, Sutherland- Haan 452 X-linked lissencephaly with abnormal genitalia 2442 X-linked lymphoproliferative disease 1131 X-linked mandibulofacial dysostosis X-linked myopathy with excessive autophagy X-linked myopathy with postural muscle atrophy X-linked neurodegenerative, Bertini X-linked neurodegenerative, Hamel 777 X-linked nonsyndromic intellectual deficit X-linked nonsyndromic sensorineural deafness DFN X-linked recessive intellectual deficit - epilepsy X-linked recessive intellectual deficit - macrocephaly - ciliary dysfunction 54 X-linked recessive ocular albinism X-linked reticulate pigmentary disorder with systemic manifestations 1852 X-linked retinal dysplasia 792 X-linked retinoschisis X-linked severe congenital neutropenia X-linked sideroblastic anemia 2802 X-linked sideroblastic anemia - ataxia X-linked spastic paraplegia X-linked spastic paraplegia X-linked spinocerebellar ataxia X-linked spinocerebellar ataxia X-linked spondyloepimetaphyseal dysplasia 852 X-linked thrombocytopenia with normal platelets Xp22.13p22.2 duplication Xq27.3q28 duplication Yellow fever 662 Yellow nail 876 Yolk sac tumor Yolk sac tumor of the central nervous system 2828 Young adult-onset Parkinsonism 3471 Young 3472 Yunis-Varon ZASP-related myofibrillar myopathy Zebra body myopathy Zechi-Ceide 912 Zellweger Zellweger-like without peroxisomal anomalies 3473 Zimmermann-Laband 3253 Zlotogora-Ogur Zlotogura-Martinez 913 Zollinger-Ellison Zonular cataract 3474 Zunich-Kaye Zygodactyly Zygodactyly Zygodactyly Zygodactyly Zygomycosis For any questions or comments, please contact us: [email protected] Editor-in-chief: Odile Kremp Visual design : Céline Angin Photography: Alliance Maladies Rares / Karine Lhémon The correct form when quoting this document is : «List of rare diseases - listed in alphabetical order», Orphanet Report Series, Rare Diseases collection, December 2012, Orphanet Report Series - List of rare diseases - listed in alphabetical number - December