Orphanet Report Series

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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