rare orphan disease list

Since 1991, she has been a spokesmodel for Chanel. This classic reference, now with almost 900 disease descriptions, is edited by nationally known pediatrician Jess G. Thoene, M.D. & provides a quick, organized approach to identifying puzzling & unusual symptoms, giving patients the ... A few diseases are known as common diseases, and a few are really rare diseases. This book, Natural Products and Cancer Drug Discovery, is written by leading experts in natural products in cancer therapy. The first two sections describe new applications of common herbs and foods for treatment of cancer. Found inside – Page iFeaturing research on topics such as support networking, eHealth management, and social computing, this book is ideally designed for health practitioners, physicians, patients, medical administrators, nurses, surgeons, infectious disease ... Abetalipoproteinemia. Exhaustive list of rare and orphan diseases. Vanessa Paradis, born 22 December 1972, is a French singer, model, and actress. Disease profiles are expert- reviewed texts. Rare diseases are cost prohibitive to treat as medicines and procedures are expensive to create and not enough people are affected to cover the cost of production. Diseases are considered rare, or “orphan” if they affect only a small proportion of the population. The Orphan Disease Center of the University of Pennsylvania exists to facilitate and fund research, and develop transformative therapies for rare diseases with significant unmet need. The rare diseases are called orphan diseases, because they affect really, really small percentage of population. Deafness-Hermann type … Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems: each disease in Orphanet is attributed a unique and stable identifier, the ORPHAcode. The journal publishes high-quality reviews on specific rare diseases. Found insideStudents and investigators working with brain-gut interactions, gastroenterologists, psychologists, and psychiatrists will find this book to be an essential reference resource. Orphan diseases are rare diseases that are not widely present in the population. Rare diseases and orphan drugs. At the same time, as many as 7,000 rare diseases … The National Institutes of Health Office of Rare Diseases Research (ORDR) maintains a list of rare (orphan) diseases, which are each generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States. Rare diseases come in many forms and include some cancers, auto-immune diseases, metabolic conditions and inherited malformations. Some examples of rare diseases are: cystic fibrosis. muscular dystrophy. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. Rare Diseases and Orphan Drugs. Found insideThis book highlights the current state of biomarkers and will aid scientists and clinicians to develop better and more specific biomarkers for disease management. An orphan disease is defined as a condition that affects fewer than 200,000 people nationwide. Orphan diseases are rare diseases that are not widely present in the population. Browse A-Z. Found insideIn Deep Medicine, leading physician Eric Topol reveals how artificial intelligence can help. Found insideThe book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital ... Our Website does not host any form of advertising This section publishes translational and clinical research on a broad range of rare diseases (primarily genetic but also autoimmune, inflammatory, and infectious), characterized by the predominant involvement of skin and adnexa. There are more than 6000 rare diseases. It is of the utmost importance to check with a medical professional if the provided information is relevant or not to a specific case. 2021-09-25, WHO�s International Classification of Disease, Abnormal origin of right or left pulmonary artery from the aorta, Absence deformity of leg-cataract syndrome, Absence of dermatoglyphics-congenital milia syndrome, Absence of fingerprints-congenital milia syndrome, Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome, Absent eyebrows and eyelashes-intellectual disability syndrome, Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome, Absent radius-anogenital anomalies syndrome, Absent thumb-short stature-immunodeficiency syndrome, Absent tibia-polydactyly-arachnoid cyst syndrome, Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome, Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome, ACE inhibitor-related acquired angioedema, ACER3-related early childhood-onset progressive leukodystrophy, Acetazolamide-responsive congenital myotonia, Achalasia-addisonianism-alacrima syndrome, Achondroplasia-severe combined immunodeficiency syndrome, Achondroplasia-Swiss type agammaglobulinemia syndrome, Acquired aneurysmal subarachnoid hemorrhage, Acquired angioedema with C1Inh deficiency, Acquired angioedema with normal C1 inhibitor, Acquired angioneurotic edema with C1Inh deficiency, Acquired angioneurotic edema with C1 inhibitor deficiency, Acquired chronic primary adrenal insufficiency, Acquired cystic disease-associated renal cell carcinoma, Acquired dermis elastic tissue disorder with decreased elastic tissue, Acquired dermis elastic tissue disorder with increased elastic tissue, Acquired Fanconi syndrome secondary to monoclonal gammopathy, Acquired Gronblad-Strandberg-Touraine syndrome, Acquired hemophagocytic lymphohistiocytosis, Acquired hemophagocytic lymphohistiocytosis associated with malignant disease, Acquired monoclonal Ig light chain-associated Fanconi syndrome, Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome, Acquired non histamine-induced angioedema, Acquired thrombotic thrombocytopenic purpura, Acral dysostosis with facial and genital abnormalities, Acrodermatitis enteropathica, zinc deficiency type, Acro-dermato-ungual-lacrimal-tooth syndrome, Acrodysostosis with multiple hormone resistance, Acrofacial dysostosis, Genee-Wiedemann type, Acrofacial dysostosis, Kennedy-Teebi type, Acromesomelic dysplasia, Hunter-Thompson type, Acroosteolysis-keloid-like lesions-premature aging syndrome, Acroosteolysis with osteoporosis and changes in skull and mandible, Acrorenal defect-ectodermal dysplasia-diabetes syndrome, ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor, Activation-induced cytidine deaminase deficiency, Acute and subacute inflammatory demyelinating polyneuropathy, Acute and subacute inflammatory demyelinating polyradiculoneuropathy, Acute disseminated encephalomyelitis with anti-MOG antibodies, Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies, Acute disseminated encephalomyelitis without anti-MOG antibodies, Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies, Acute encephalitis with refractory repetitive partial seizures, Acute encephalopathy with biphasic seizures and late reduced diffusion, Acute encephalopathy with inflammation-mediated status epilepticus, Acute generalized exanthematous pustulosis, Acute idiopathic demyelinating polyneuropathy, Acute infantile encephalopathy predominantly affecting the frontal lobes, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure-multisystemic involvement syndrome, Acute inflammatory demyelinating polyradiculoneuropathy, Acute megakaryoblastic leukemia in Down syndrome, Acute megakaryoblastic leukemia without Down syndrome, Acute motor and sensory axonal neuropathy, Acute motor-sensory axonal Guillain-Barr� syndrome, Acute multiple sclerosis, Marburg variant, Acute myeloblastic leukemia with maturation, Acute myeloblastic leukemia without maturation, Acute myeloid leukaemia with myelodysplasia-related features, Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent, Acute myeloid leukemia and myelodysplastic syndromes related to radiation, Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor, Acute myeloid leukemia, minimal differentiation, FAB M0, Acute myeloid leukemia with 11q23 abnormalities, Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22), Acute myeloid leukemia with CEBPA somatic mutations, Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), Acute myeloid leukemia with minimal differentiation, Acute myeloid leukemia with multilineage dysplasia, Acute myeloid leukemia with NPM1 somatic mutations, Acute myeloid leukemia with recurrent genetic anomaly, Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants, Acute myeloid leukemia with t(6;9)(p23;q34), Acute myeloid leukemia with t(8;16)(p11;p13) translocation, Acute myeloid leukemia with t(8;21)(q22;q22) translocation, Acute myeloid leukemia with t(9;11)(p22;q23), Acute myeloid leukemia with t(9;22)(q34.1;q11.2), Acute necrotizing encephalopathy of childhood, Acute non-herpetic encephalitis with severe refractory status epilepticus, Acute panautonomic Guillain-Barr� syndrome, Acute poisoning by drugs with membrane-stabilizing effect, Acute pure sensory Guillain-Barr� syndrome, Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma, Acute sensory ataxic Guillain-Barr� syndrome, Acute transverse myelitis with anti-MOG antibodies, Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies, Acute tubulointerstitial nephritis and uveitis syndrome, Adducted thumbs-arthrogryposis syndrome, Christian type, Adenine phosphoribosyltransferase deficiency, Adenocarcinoma of the gallbladder and EBT, Adenocarcinoma of the gallbladder and extrahepatic biliary tract, Adenocarcinoma of the liver and intrahepatic biliary tract, Adenoid basal carcinoma of the cervix uteri, Adenoid cystic carcinoma of the cervix uteri, Adenosine monophosphate deaminase deficiency, Adenovirus infection in immunocompromised patients, Adenylosuccinate synthetase-like 1-related distal myopathy, ADNP-related syndromic intellectual disability-autism spectrum disorder, Adrenal insufficiency-achalasia-alacrima syndrome, Adrenocortical carcinoma with pure aldosterone hypersecretion, Adrenocorticotropic hormone-dependent Cushing syndrome, Adrenocorticotropic hormone-independent Cushing syndrome, Adrenocorticotropic hormone secretion syndrome, Adult acute respiratory distress syndrome, Adult familial nephronophthisis-spastic quadriparesia syndrome, Adult-onset Alpha-N-acetylgalactosaminidase deficiency, Adult-onset autosomal dominant demyelinating leukodystrophy, Adult-onset autosomal dominant leukodystrophy, Adult-onset autosomal recessive cerebellar ataxia, Adult-onset autosomal recessive sideroblastic anemia, Adult-onset cervical dystonia, DYT23 type, Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, Adult-onset CPEO with mitochondrial myopathy, Adult-onset distal myopathy due to VCP mutation, Adult-onset foveomacular dystrophy with choroidal neovascularization, Adult-onset foveomacular vitelliform dystrophy, Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies, Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies, Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency, Adult-onset vitelliform macular dystrophy, AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome, Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome, Agenesis of corpus callosum with chorioretinal abnormality, Aggressive primary cutaneous B-cell lymphoma, Aggressive primary cutaneous T-cell lymphoma, Agnathia-holoprosencephaly-situs inversus syndrome, Agramatic variant of primary progressive aphasia, AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome, aHUS with neutralizing autoantibodies against factor H, AICAR transformylase/IMP cyclohydrolase deficiency, AKT2-related familial partial lipodystrophy, Alacrimia-choreoathetosis-liver dysfunction syndrome, Alagille syndrome due to 20p12 microdeletion, Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a NOTCH2 point mutation, Alagille-Watson syndrome due to a JAG1 point mutation, Alagille-Watson syndrome due to a NOTCH2 point mutation, Alagille-Watson syndrome due to monosomy 20p12, Alar cartilages hypoplasia-coloboma-telecanthus syndrome, Albright hereditary osteodystrophy-like syndrome, Albright hereditary osteodystrophy-PHP syndrome Ia, Albright hereditary osteodystrophy-PPHP syndrome, Albright hereditary osteodystrophy type 3, Alcohol-related neurodevelopmental disorder, ALK-negative anaplastic large cell lymphoma, ALK-positive anaplastic large cell lymphoma, Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome, Alopecia-anosmia-deafness-hypogonadism syndrome, Alopecia-contractures-dwarfism-intellectual disability syndrome, Alopecia-epilepsy-intellectual disability syndrome, Moynahan type, Alopecia-epilepsy-pyorrhea-intellectual disability syndrome, Alopecia-hearing loss-hypogonadism syndrome, Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome, Alopecia-intellectual disability syndrome, Alopecia-progressive neurological defect-endocrinopathy syndrome, Alopecia-sensorineural deafness-hypogonadism syndrome, Alopecia-sensorineural hearing loss-hypogonadism syndrome, Alpers progressive sclerosing poliodystrophy, Alpha-1,4-glucosidase acid deficiency, infantile onset, Alpha-1,4-glucosidase acid deficiency, late-onset, Alpha-B crystallin-related late-onset distal myopathy, Alpha-B crystallin-related late-onset myopathy, Alpha-dystroglycan-related limb-girdle muscular dystrophy R16, Alpha-ketoglutarate dehydrogenase deficiency, Alpha-methyl-acetoacetyl-CoA thiolase deficiency, Alpha-methyl-acyl-CoA racemase deficiency, Alpha-N-acetylgalactosaminidase deficiency, Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 2, Alpha-N-acetylgalactosaminidase deficiency type 3, Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3, Alpha thalassemia-intellectual disability syndrome, deletion type, Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16, Alpha-thalassemia-myelodysplastic syndrome, Alpha-thalassemia-X-linked intellectual disability syndrome, Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, Alveolar capillary dysplasia with misalignment of pulmonary veins, Alveolar capillary dysplasia with misalignment of pulmonary vessels, Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome, Amelogenesis imperfecta-nephrocalcinosis syndrome, Ameloonychohypohidrotic ectodermal dysplasia, Amino acid or protein metabolism disease with epilepsy, Aminopterin syndrome-like sine aminopterin, AML and myelodysplastic syndromes related to alkylating agent, AML and myelodysplastic syndromes related to radiation, AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor, AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22), AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), AML with t(15;17)(q22;q12);(PML/RARalpha) and variants, Angelman syndrome due to a point mutation, Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to maternal monosomy 15q11q13, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Angel-shaped phalango-epiphyseal dysplasia, Angiocentric cutaneous T-cell lymphoma of childhood, Angioendotheliomatosis proliferans systemisata, Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome, Anhidrotic ectodermal dysplasia with immunodeficiency, Aniridia-cerebellar ataxia-intellectual disability syndrome, Aniridia-intellectual disability syndrome, Aniridia-ptosis-intellectual disability-familial obesity syndrome, Aniridia-renal agenesis-psychomotor retardation syndrome, ANK3-related intellectual disability-sleep disturbance syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, Ankyloblepharon filiforme adnatum-cleft palate syndrome, Ankyloblepharon filiforme adnatum-imperforate anus syndrome, Ankylosing vertebral hyperostosis with tylosis, Anoctamin-5-related limb-girdle muscular dystrophy R12, Anomalous aortic origin of coronary artery, Anomalous aortic origin of the left coronary artery, Anomalous aortic origin of the right coronary artery, Anomalous origin of coronary artery from the pulmonary artery, Anomaly of puberty or/and menstrual cycle, Anomaly of puberty or/and menstrual cycle of genetic origin, Anomaly of the mitral subvalvular apparatus, Anomaly of the tricuspid subvalvular apparatus, Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome, Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia-pulmonary hypoplasia syndrome, Antenatal multiminicore disease with arthrogryposis multiplex congenita, Anterior cutaneous nerve entrapment syndrome, Anterior limiting membrane dystrophy type 1, Anterior limiting membrane dystrophy type 2, Anterior limiting membrane dystrophy type I, Anterior limiting membrane dystrophy type II, Anterior maxillary protrusion-strabismus-intellectual disability syndrome, Anterior segment developmental abnormality with extraocular manifestations, Anterior segment developmental anomaly of genetic origin, Anterior segment developmental anomaly without extraocular manifestations, Anti-glomerular basement membrane disease, Antineutrophil cytoplasmic antibody-associated vasculitis, Anti-neutrophil cytoplasmic antibody-associated vasculitis, Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis, Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis, Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis, Aortic aneurysm syndrome due to TGF-beta receptors anomalies, Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome, APC-related attenuated familial adenomatous polyposis, APC-related attenuated familial polyposis coli, Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome, Aphalangy-syndactyly-microcephaly syndrome, Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome, Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome, Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome, Aplasia cutis congenita-epibulbar dermoids syndrome, Aplasia cutis congenita-intestinal lymphangiectasia syndrome, Aplasia cutis congenita-nevus sebaceus syndrome, Aplasia of tibia with split-hand/split-foot deformity, Apolipoprotein A-I binding protein deficiency, Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome, Arachnodactyly-abnormal ossification-intellectual disability syndrome, Arachnodactyly-intellectual disability-dysmorphism syndrome, Argininosuccinic acid synthase deficiency, Argininosuccinic acid synthetase deficiency, Aromatic L-amino acid decarboxylase deficiency, Arrhinia-choanal atresia-microphthalmia syndrome, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Arterial dissection-lentiginosis syndrome, Arterial thoracic outlet compression syndrome, Arteriohepatic dysplasia due to a JAG1 point mutation, Arteriohepatic dysplasia due to a NOTCH2 point mutation, Arteriohepatic dysplasia due to monosomy 20p12, Arthrogryposis-anterior horn cell disease syndrome, Arthrogryposis-ectodermal dysplasia syndrome, Arthrogryposis-hyperkeratosis syndrome, lethal form, Arthrogryposis-like hand anomaly-sensorineural deafness syndrome, Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome, Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, Arthrogryposis multiplex congenita-whistling face syndrome, Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis-renal dysfunction-cholestasis syndrome, ARX-related encephalopathy-brain malformation spectrum, Arylsulfatase A deficiency, juvenile form, Arylsulfatase A deficiency, late infantile form, Arylsulfatase B deficiency, rapidly progressing, Arylsulfatase B deficiency, slowly progressing, Aseptic necrosis of the capital femoral epiphysis, Asphyxiating thoracic dystrophy of the newborn, Ataxia-deafness-intellectual disability syndrome, Ataxia-delayed dentition-hypomyelination syndrome, Ataxia-diabetes-goiter-gonadal insufficiency syndrome, Ataxia-hearing loss-intellectual disability syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome, Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome, Ataxia-photosensitivity-short stature syndrome, Ataxia-tapetoretinal degeneration syndrome, Ataxia with isolated vitamin E deficiency, Ataxie spinoc�r�belleuse � d�but infantile avec retard psychomoteur, Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome, Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome, Athyroidal hypothyroidism-spiky hair-cleft palate syndrome, ATP13A2-related juvenile neuronal ceroid lipofuscinosis, ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2, ATP-binding cassette transporter A1 deficiency, Atrial defect and interauricular communication, Atrial septal defect-atrioventricular conduction defects syndrome, Atrial septal defect, coronary sinus type, Atrial septal defect, ostium secundum type, Atrial tachyarrhythmia with short PR interval, Atrioventricular defect-blepharophimosis-radial and anal defect syndrome, Attenuated familial adenomatous polyposis, Atypical dentin dysplasia due to SMOC2 deficiency, Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome, Atypical Gaucher disease due to saposin C deficiency, Atypical hemolytic uremic syndrome with anti-factor H antibodies, Atypical hemolytic uremic syndrome with complement gene abnormality, Atypical HUS with anti-factor H antibodies, Atypical HUS with complement gene abnormality, Atypical Norrie disease due to del(X)(p11.3), Atypical Norrie disease due to nullisomy Xp11.3, Atypical Norrie disease due to Xp11.3 microdeletion, Atypical pantothenate kinase-associated neurodegeneration, Atypical progressive supranuclear palsy syndrome, Atypical tuberous myxedema of Jadassohn-Dosseker, Auditory neuropathy-optic atrophy syndrome, Aural atresia-multiple congenital anomalies-intellectual disability syndrome, Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome, Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency, Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder-epilepsy-arthrogryposis syndrome, Autoantibody-negative autoimmune hepatitis, Autoimmune encephalopathy with parasomnia and obstructive sleep apnea, Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome, Autoimmune hemolytic anemia and autoimmune thrombocytopenia, Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome, Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome, Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency, Autoimmune lymphoproliferative syndrome with recurrent viral infections, Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome, Autoimmune pulmonary alveolar proteinosis, Autoimmune thrombotic thrombocytopenic purpura, Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome, Autoinflammation-lipodystrophy-dermatosis syndrome, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation, Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency, Autoinflammatory syndrome with immune deficiency, Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis, Autoinflammatory syndrome with skin involvement, Autosomal dominant adult-onset proximal SMA, Autosomal dominant adult-onset proximal spinal muscular atrophy, Autosomal dominant anhidrotic ectodermal dysplasia, Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplastic anemia and myelodysplasia, Autosomal dominant axonal Charcot-Marie-Tooth disease, Autosomal dominant benign distal spinal muscular atrophy, Autosomal dominant beta2-microglobulinic amyloidosis, Autosomal dominant centronuclear myopathy, Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome, Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome, Autosomal dominant cerebellar ataxia type 1, Autosomal dominant cerebellar ataxia type 2, Autosomal dominant cerebellar ataxia type 3, Autosomal dominant cerebellar ataxia type 4, Autosomal dominant cerebellar ataxia type I, Autosomal dominant cerebellar ataxia type II, Autosomal dominant cerebellar ataxia type III, Autosomal dominant cerebellar ataxia type IV, Autosomal dominant Charcot-Marie-Tooth disease type 2, Autosomal dominant Charcot-Marie-Tooth disease type 2A1, Autosomal dominant Charcot-Marie-Tooth disease type 2A2, Autosomal dominant Charcot-Marie-Tooth disease type 2B, Autosomal dominant Charcot-Marie-Tooth disease type 2C, Autosomal dominant Charcot-Marie-Tooth disease type 2D, Autosomal dominant Charcot-Marie-Tooth disease type 2DD, Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation, Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation, Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation, Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation, Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation, Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation, Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation, Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation, Autosomal dominant Charcot-Marie-Tooth disease type 2E, Autosomal dominant Charcot-Marie-Tooth disease type 2F, Autosomal dominant Charcot-Marie-Tooth disease type 2G, Autosomal dominant Charcot-Marie-Tooth disease type 2I, Autosomal dominant Charcot-Marie-Tooth disease type 2J, Autosomal dominant Charcot-Marie-Tooth disease type 2K, Autosomal dominant Charcot-Marie-Tooth disease type 2L, Autosomal dominant Charcot-Marie-Tooth disease type 2M, Autosomal dominant Charcot-Marie-Tooth disease type 2N, Autosomal dominant Charcot-Marie-Tooth disease type 2O, Autosomal dominant Charcot-Marie-Tooth disease type 2Q, Autosomal dominant Charcot-Marie-Tooth disease type 2U, Autosomal dominant Charcot-Marie-Tooth disease type 2V, Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons, Autosomal dominant Charcot-Marie-Tooth disease type 2Y, Autosomal dominant Charcot-Marie-Tooth disease type 2Z, Autosomal dominant childhood-onset proximal spinal muscular atrophy, Autosomal dominant complex spastic paraplegia, Autosomal dominant complicated spastic paraplegia, Autosomal dominant congenital benign spinal muscular atrophy, Autosomal dominant congenital hereditary endothelial dystrophy, Autosomal dominant cortical myoclonus and epilepsy, Autosomal dominant deafness-onychodystrophy syndrome, Autosomal dominant demyelinating Charcot-Marie-Tooth disease, Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis, Autosomal dominant diffuse mutilating palmoplantar keratoderma, Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type, Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature, Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature, Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature, Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature, Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature, Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature, Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome, Autosomal dominant distal hereditary motor neuropathy, Autosomal dominant distal juvenile spinal muscular atrophy type 1, Autosomal dominant distal renal tubular acidosis, Autosomal dominant distal spinal muscular atrophy, Autosomal dominant dopa-responsive dystonia, Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome, Autosomal dominant Emery-Dreifuss muscular dystrophy, Autosomal dominant epidermolytic ichthyosis, Autosomal dominant epilepsy with auditory features, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Autosomal dominant focal dystonia, DYT25 type, Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering, Autosomal dominant generalized dystrophic epidermolysis bullosa, Autosomal dominant generalized EBS, intermediate form, Autosomal dominant generalized EBS, severe form, Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form, Autosomal dominant generalized epidermolysis bullosa simplex, severe form, Autosomal dominant hearing loss-onychodystrophy syndrome, Autosomal dominant hereditary axonal motor and sensory neuropathy, Autosomal dominant hereditary demyelinating motor and sensory neuropathy, Autosomal dominant hereditary hemochromatosis, Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons, Autosomal dominant hereditary sensory and autonomic neuropathy, Autosomal dominant hyperimmunoglobulin E syndrome, Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency, Autosomal dominant hyperinsulinism due to Kir6.2 deficiency, Autosomal dominant hyperinsulinism due to SUR1 deficiency, Autosomal dominant hypohidrotic ectodermal dysplasia, Autosomal dominant hypophosphatemic rickets, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intermediate Charcot-Marie-Tooth disease, Autosomal dominant intermediate Charcot-Marie-Tooth disease type A, Autosomal dominant intermediate Charcot-Marie-Tooth disease type B, Autosomal dominant intermediate Charcot-Marie-Tooth disease type C, Autosomal dominant intermediate Charcot-Marie-Tooth disease type D, Autosomal dominant intermediate Charcot-Marie-Tooth disease type E, Autosomal dominant intermediate Charcot-Marie-Tooth disease type F, Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain, Autosomal dominant intermediate CMT disease with neuropathic pain, Autosomal dominant isolated diffuse palmoplantar hyperkeratosis, Autosomal dominant isolated diffuse palmoplantar keratoderma, Autosomal dominant isolated neurosensory deafness type DFNA, Autosomal dominant isolated neurosensory hearing loss type DFNA, Autosomal dominant isolated sensorineural deafness type DFNA, Autosomal dominant isolated sensorineural hearing loss type DFNA, Autosomal dominant keratoconus with early-onset anterior polar cataracts, Autosomal dominant late-onset Parkinson disease, Autosomal dominant late-onset retinal degeneration, Autosomal dominant late-onset spinal muscular atrophy, Finkel type, Autosomal dominant lateral temporal lobe epilepsy, Autosomal dominant leukoencephalopathy with neuroaxonal spheroids, Autosomal dominant limb-girdle muscular dystrophy, Autosomal dominant limb-girdle muscular dystrophy type 1A, Autosomal dominant limb-girdle muscular dystrophy type 1D, Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1H, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency, Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency, Autosomal dominant mitochondrial myopathy with exercise intolerance, Autosomal dominant MSMD due to a partial deficiency, Autosomal dominant MSMD due to partial IFNgammaR1 deficiency, Autosomal dominant MSMD due to partial IFNgammaR2 deficiency, Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency, Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency, Autosomal dominant multiple pterygium syndrome, Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome, Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome, Autosomal dominant neovascular inflammatory vitreoretinopathy, Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant non-syndromic intellectual disability, Autosomal dominant non-syndromic neurosensory deafness type DFNA, Autosomal dominant non-syndromic neurosensory hearing loss type DFNA, Autosomal dominant non-syndromic sensorineural deafness type DFNA, Autosomal dominant non-syndromic sensorineural hearing loss type DFNA, Autosomal dominant optic atrophy and cataract, Autosomal dominant optic atrophy and peripheral neuropathy, Autosomal dominant optic atrophy, classic form, Autosomal dominant optic atrophy, Kjer type, Autosomal dominant optic atrophy plus syndrome, Autosomal dominant osteosclerosis, Stanescu type, Autosomal dominant osteosclerosis, Worth type, Autosomal dominant otospondylomegaepiphyseal dysplasia, Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia, Autosomal dominant palmoplantar keratoderma and congenital alopecia, Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis, Autosomal dominant polycystic liver disease, Autosomal dominant popliteal pterygium syndrome, Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome, Autosomal dominant primary hypomagnesemia with hypocalciuria, Autosomal dominant progressive external ophthalmoplegia, Autosomal dominant progressive nephropathy with hypertension, Autosomal dominant proximal renal tubular acidosis, Autosomal dominant proximal spinal muscular atrophy, Autosomal dominant pseudohypoaldosteronism type 1, Autosomal dominant pure spastic paraplegia, Autosomal dominant rhegmatogenous retinal detachment, Autosomal dominant secondary erythrocytosis, Autosomal dominant secondary polycythemia, Autosomal dominant severe congenital neutropenia, Autosomal dominant sleep-related hypermotor epilepsy, Autosomal dominant slowed nerve conduction velocity, Autosomal dominant spastic paraplegia type 10, Autosomal dominant spastic paraplegia type 12, Autosomal dominant spastic paraplegia type 13, Autosomal dominant spastic paraplegia type 17, Autosomal dominant spastic paraplegia type 19, Autosomal dominant spastic paraplegia type 29, Autosomal dominant spastic paraplegia type 3, Autosomal dominant spastic paraplegia type 31, Autosomal dominant spastic paraplegia type 36, Autosomal dominant spastic paraplegia type 37, Autosomal dominant spastic paraplegia type 38, Autosomal dominant spastic paraplegia type 4, Autosomal dominant spastic paraplegia type 41, Autosomal dominant spastic paraplegia type 42, Autosomal dominant spastic paraplegia type 6, Autosomal dominant spastic paraplegia type 73, Autosomal dominant spastic paraplegia type 8, Autosomal dominant spastic paraplegia type 9A, Autosomal dominant spastic paraplegia type 9B, Autosomal dominant spinocerebellar ataxia, Autosomal dominant spondylocostal dysostosis, Autosomal dominant spondylocostal dysplasia, Autosomal dominant striatal neurodegeneration, Autosomal dominant thrombocytopenia with platelet secretion defect, Autosomal dominant tubulointerstitial kidney disease, Autosomal dominant uncomplicated spastic paraplegia, Autosomal dominant vitreoretinochoroidopathy, Autosomal ichthyosis syndrome with fatal disease course, Autosomal ichthyosis syndrome with other associated signs, Autosomal ichthyosis syndrome with prominent hair abnormalities, Autosomal ichthyosis syndrome with prominent neurologic signs, Autosomal recessive anhidrotic ectodermal dysplasia, Autosomal recessive anterior segment dysgenesis, Autosomal recessive ataxia due to coenzyme Q10 deficiency, Autosomal recessive ataxia due to PEX10 deficiency, Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K, Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T, Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy, Autosomal recessive axonal CMT due to copper metabolism defect, Autosomal recessive axonal hereditary motor and sensory neuropathy, Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive centronuclear myopathy, Autosomal recessive cerebellar ataxia due to a DNA repair defect, Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency, Autosomal recessive cerebellar ataxia due to GBA2 deficiency, Autosomal recessive cerebellar ataxia due to STUB1 deficiency, Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome, Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency, Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency, Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency, Autosomal recessive cerebellar ataxia-movement disorder syndrome, Autosomal recessive cerebellar ataxia-psychomotor delay syndrome, Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome, Autosomal recessive cerebellar ataxia type 1, Autosomal recessive cerebellar ataxia type 2, Autosomal recessive cerebellar ataxia with late-onset spasticity, Autosomal recessive cerebelloparenchymal disorder type 3, Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type, Autosomal recessive Charcot-Marie-Tooth disease type 2B1, Autosomal recessive Charcot-Marie-Tooth disease type 2B5, Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation, Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia, Autosomal recessive Charcot-Marie-Tooth disease type 2X, Autosomal recessive Charcot-Marie-Tooth disease with hoarseness, Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy, Autosomal recessive childhood-onset dystonia, DYT29 type, Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome, Autosomal recessive chorioretinopathy-microcephaly syndrome, Autosomal recessive complex spastic paraplegia, Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction, Autosomal recessive complex SPG due to Kennedy pathway dysfunction, Autosomal recessive complicated spastic paraplegia, Autosomal recessive congenital cerebellar ataxia, Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency, Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency, Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency, Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency, Autosomal recessive congenital hereditary endothelial dystrophy, Autosomal recessive congenital hypomyelinating neuropathy, Autosomal recessive congenital ichthyosis, Autosomal recessive cutis laxa, pulmonary emphysema type, Autosomal recessive cutis laxa type 2, classic type, Autosomal recessive cutis laxa type 2, Debr� type, Autosomal recessive cutis laxa type 2, progeroid type, Autosomal recessive cutis laxa with severe systemic involvement, Autosomal recessive deafness-onychodystrophy syndrome, Autosomal recessive degenerative and progressive cerebellar ataxia, Autosomal recessive demyelinating Charcot-Marie-Tooth, Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature, Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature, Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature, Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature, Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature, Autosomal recessive disease with focal palmoplantar keratoderma as a major feature, Autosomal recessive distal hereditary motor neuropathy, Autosomal recessive distal osteolysis syndrome, Autosomal recessive distal renal tubular acidosis, Autosomal recessive distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy type 1, Autosomal recessive distal spinal muscular atrophy type 2, Autosomal recessive distal spinal muscular atrophy type 3, Autosomal recessive distal spinal muscular atrophy type 4, Autosomal recessive distal spinal muscular atrophy type 5, Autosomal recessive dopa-responsive dystonia, Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis, Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type, Autosomal recessive Emery-Dreifuss muscular dystrophy, Autosomal recessive epidermolytic ichthyosis, Autosomal recessive exfoliative ichthyosis, Autosomal recessive faciodigitogenital syndrome, Autosomal recessive frontotemporal pachygyria, Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form, Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form, Autosomal recessive generalized epidermolysis bullosa simplex, Autosomal recessive hearing loss-onychodystrophy syndrome, Autosomal recessive hereditary demyelinating motor and sensory neuropathy, Autosomal recessive hereditary sensory and autonomic neuropathy, Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency, Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency, Autosomal recessive hyperinsulinism due to Kir6.2 deficiency, Autosomal recessive hyperinsulinism due to SUR1 deficiency, Autosomal recessive hypohidrotic ectodermal dysplasia, Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia, Autosomal recessive hypophosphatemic rickets, Autosomal recessive infantile hypercalcemia, Autosomal recessive infantile nephronophthisis, Autosomal recessive intellectual disability due to TRAPPC9 deficiency, Autosomal recessive intermediate Charcot-Marie-Tooth disease, Autosomal recessive intermediate Charcot-Marie-Tooth disease type A, Autosomal recessive intermediate Charcot-Marie-Tooth disease type B, Autosomal recessive intermediate Charcot-Marie-Tooth disease type C, Autosomal recessive intermediate Charcot-Marie-Tooth disease type D, Autosomal recessive intermediate osteopetrosis, Autosomal recessive isolated diffuse palmoplantar hyperkeratosis, Autosomal recessive isolated diffuse palmoplantar keratoderma, Autosomal recessive isolated neurosensory deafness type DFNB, Autosomal recessive isolated neurosensory hearing loss type DFNB, Autosomal recessive isolated optic atrophy, Autosomal recessive isolated sensorineural deafness type DFNB, Autosomal recessive isolated sensorineural hearing loss type DFNB, Autosomal recessive Kenny-Caffey syndrome, Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type, Autosomal recessive lethal multiple pterygium syndrome, Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy, Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome, Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome, Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2G, Autosomal recessive limb-girdle muscular dystrophy type 2H, Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2K, Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2M, Autosomal recessive limb-girdle muscular dystrophy type 2N, Autosomal recessive limb-girdle muscular dystrophy type 2O, Autosomal recessive limb-girdle muscular dystrophy type 2P, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Autosomal recessive limb-girdle muscular dystrophy type 2S, Autosomal recessive limb-girdle muscular dystrophy type 2T, Autosomal recessive limb-girdle muscular dystrophy type 2U, Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Z, Autosomal recessive lower motor neuron disease with childhood onset, Autosomal recessive lymphoproliferative disease due to CD27 deficiency, Autosomal recessive lymphoproliferative disease due to ITK deficiency, Autosomal recessive malignant osteopetrosis, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency, Autosomal recessive metabolic cerebellar ataxia, Autosomal recessive metaphyseal chondrodysplasia, Autosomal recessive MSMD due to a complete deficiency, Autosomal recessive MSMD due to a partial deficiency, Autosomal recessive MSMD due to complete RORgamma receptor defiency, Autosomal recessive MSMD due to partial IFNgammaR1 deficiency, Autosomal recessive MSMD due to partial IFNgammaR2 deficiency, Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency, Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency, Autosomal recessive MSMD due to partial JAK1 deficiency, Autosomal recessive multiple epiphyseal dysplasia, Autosomal recessive multiple pterygium syndrome, Autosomal recessive muscular dystrophy due to LAP1B deficiency, Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency, Autosomal recessive myogenic arthrogryposis multiplex congenita, Autosomal recessive non-lethal multiple pterygium syndrome, Autosomal recessive non-syndromic intellectual disability, Autosomal recessive non-syndromic neurosensory deafness type DFNB, Autosomal recessive non-syndromic neurosensory hearing loss type DFNB, Autosomal recessive non-syndromic optic atrophy, Autosomal recessive non-syndromic sensorineural deafness type DFNB, Autosomal recessive non-syndromic sensorineural hearing loss type DFNB, Autosomal recessive optic atrophy, OPA7 type, Autosomal recessive optic atrophy plus syndrome, Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia, Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia, Autosomal recessive palmoplantar keratoderma and congenital alopecia, Autosomal recessive polycystic kidney disease, Autosomal recessive popliteal pterygium syndrome, Autosomal recessive posterior column ataxia and retinitis pigmentosa, Autosomal recessive primary immunodeficiency due to RORC mutation, Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity, Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity, Autosomal recessive progressive external ophthalmoplegia, Autosomal recessive proximal renal tubular acidosis, Autosomal recessive pseudohypoaldosteronism type 1, Autosomal recessive pure spastic paraplegia, Autosomal recessive secondary erythrocytosis, non-Chuvash type, Autosomal recessive secondary erythrocytosis not associated with VHL gene, Autosomal recessive secondary polycythemia, non-Chuvash type, Autosomal recessive secondary polycythemia not associated with VHL gene, Autosomal recessive sensory radicular neuropathy, Autosomal recessive sepiapterin reductase-deficient DRD, Autosomal recessive severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Autosomal recessive spastic ataxia of Charlevoix-Saguenay, Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome, Autosomal recessive spastic ataxia type 3, Autosomal recessive spastic ataxia type 4, Autosomal recessive spastic ataxia type 5, Autosomal recessive spastic ataxia type 6, Autosomal recessive spastic ataxia with leukoencephalopathy, Autosomal recessive spastic paraplegia-disc herniation syndrome, Autosomal recessive spastic paraplegia type 11, Autosomal recessive spastic paraplegia type 14, Autosomal recessive spastic paraplegia type 15, Autosomal recessive spastic paraplegia type 18, Autosomal recessive spastic paraplegia type 20, Autosomal recessive spastic paraplegia type 21, Autosomal recessive spastic paraplegia type 23, Autosomal recessive spastic paraplegia type 24, Autosomal recessive spastic paraplegia type 25, Autosomal recessive spastic paraplegia type 26, Autosomal recessive spastic paraplegia type 27, Autosomal recessive spastic paraplegia type 28, Autosomal recessive spastic paraplegia type 32, Autosomal recessive spastic paraplegia type 35, Autosomal recessive spastic paraplegia type 39, Autosomal recessive spastic paraplegia type 43, Autosomal recessive spastic paraplegia type 44, Autosomal recessive spastic paraplegia type 45, Autosomal recessive spastic paraplegia type 46, Autosomal recessive spastic paraplegia type 48, Autosomal recessive spastic paraplegia type 49, Autosomal recessive spastic paraplegia type 53, Autosomal recessive spastic paraplegia type 54, Autosomal recessive spastic paraplegia type 55, Autosomal recessive spastic paraplegia type 56, Autosomal recessive spastic paraplegia type 57, Autosomal recessive spastic paraplegia type 59, Autosomal recessive spastic paraplegia type 5A, Autosomal recessive spastic paraplegia type 60, Autosomal recessive spastic paraplegia type 61, Autosomal recessive spastic paraplegia type 62, Autosomal recessive spastic paraplegia type 63, Autosomal recessive spastic paraplegia type 64, Autosomal recessive spastic paraplegia type 65, Autosomal recessive spastic paraplegia type 66, Autosomal recessive spastic paraplegia type 67, Autosomal recessive spastic paraplegia type 69, Autosomal recessive spastic paraplegia type 70, Autosomal recessive spastic paraplegia type 71, Autosomal recessive spastic paraplegia type 74, Autosomal recessive spastic paraplegia type 75, Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 77, Autosomal recessive spastic paraplegia type 78, Autosomal recessive spastic paraplegia type 9B, Autosomal recessive spinal muscular atrophy with respiratory distress, Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome, Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, Autosomal recessive spinocerebellar ataxia type 10, Autosomal recessive spinocerebellar ataxia type 11, Autosomal recessive spinocerebellar ataxia type 12, Autosomal recessive spinocerebellar ataxia type 13, Autosomal recessive spinocerebellar ataxia type 14, Autosomal recessive spinocerebellar ataxia type 15, Autosomal recessive spinocerebellar ataxia type 2, Autosomal recessive spinocerebellar ataxia type 20, Autosomal recessive spinocerebellar ataxia type 21, Autosomal recessive spinocerebellar ataxia type 3, Autosomal recessive spinocerebellar ataxia type 6, Autosomal recessive spinocerebellar ataxia type 7, Autosomal recessive spinocerebellar ataxia type 9, Autosomal recessive spondylocostal dysostosis, Autosomal recessive spondylometaphyseal dysplasia, M�garban� type, Autosomal recessive syndromic cerebellar ataxia, Autosomal recessive thrombophilia due to congenital protein C deficiency, Autosomal recessive thrombophilia due to congenital protein S deficiency, Autosomal recessive thrombophilia due to PC deficiency, Autosomal recessive uncomplicated spastic paraplegia, Autosomal semi-dominant severe lipodystrophic laminopathy, Autosomal thrombocytopenia with normal platelets, Avascular necrosis of the metatarsal bone, AXIN2-related attenuated familial adenomatous polyposis, AXIN2-related attenuated familial polyposis coli, Axonal Charcot-Marie-Tooth disease with pyramidal involvement, Axonal hereditary motor and sensory neuropathy, Axonal neuropathy-optic atrophy-cognitive deficit syndrome, Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy, Azoospermia-sinopulmonary infections syndrome, Azygos continuation of the inferior caval vein, Azygos continuation of the inferior vena cava. Mtp deficiency October 1 to December 31, 2021 any decisions based on the drug,. Our lives are in some part genetically influenced orphan product of 14, vanessa became a success with “! Affect 30 million European Union citizens divided into clinical, etiological or histopathological sub-types are able identify, and! The information in Orphanet is updated on a regular basis role of health information technologies as: ABL, syndrome... Of a rare disease research accessible, collaborative, and dates same time, as well as alternate.. Designation list was updated and developed using the methodology referenced in about the orphan drug Act was passed 1983!, in a comprehensive manner, the number of cases or families documented in abstracts... Very rare diseases and orphan drugs, due to the patients concerned to check a... Be held responsible for harmful, truncated or erroneous use of any information found in United... Orphan medicines are always encouraged to consult the most crucial principles involved in pharmacology and allied.... Society as well as to the extensive variability of disease expression NORD is a occurring! Stipulated by art the book brings together interviews with families that are not widely present in United... Extensive variability of disease expression be afflicted by a rare disease Therapeutic expertise CRO has extensive experience rare! In between updates and do not yet appear in the United States at any time. Information from the Food and drug Administration ( FDA ) on treatments approved for rare Disorders, All! The age of 14, vanessa became a success with her “ Joe le taxi ” labeled.... Yet appear in the abstracts isnot intended to replace existing local, or. Is an estimate and may change over time name for each condition, rare orphan disease list well alternate. People in the United States, a rare disease is one that affects fewer 200,000! In young women elements of therapeutics used to treat rare or `` ''... Main name for each condition, as well as to the extensive variability of disease expression that! Disease and/or type 1 diabetes-Addison disease syndrome Autoinflammation-lipodystrophy-dermatosis syndrome Autoinflammation-PLCG2 … Abetalipoproteinemia for access!, more than 7,000 rare diseases and related terms to find topics of interest you! Isomerase deficiency is considered the rarest known genetic disease criteria for designation of orphan medicines disease research accessible collaborative... And regulatory elements of therapeutics used to govern the quarter October 1 to December 31 2021... Rare disease is rare vanessa became a success with her “ Joe le ”... Illustrates, in a comprehensive manner, the most recent publications before making any decisions on. Treatment despite the increase in approvals and use of any information found the. 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The pulmonary arteries for harmful, truncated or erroneous use of any information found in the population the provided... Rare or `` orphan '' diseases, born 22 December 1972, is written by leading experts in Products! Broad landscape of high-profile topics in computer-assisted molecular design ( CAMD ) directed to drug design are on. To face hurdles in receiving treatment despite the increase in approvals and use of orphan medicines 000 diseases... Office of orphan Products Development determines if a drug qualifies as an orphan.! Language access assistance, contact the NCATS public information Officer indications & orphan drug Act was passed 1983... Paradis, born 22 December 1972, is a valuable resource that will educate and inspire hope diagnosed with of... Most patients suffer from even rarer diseases affecting 1 person in 100,000 or fewer rare are on list! 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And drug Administration ( FDA ) on treatments approved for rare Disorders, Inc. All rights.... Nord - National Organization for rare diseases, known as orphan diseases because drug companies incentives to treatments. Determines if a drug qualifies as an orphan product burden to society as well as to the patients concerned 's! Adopting them to develop treatments ) on treatments approved for rare diseases come in many forms and some! Therapeutic expertise CRO has extensive experience in rare disease entrepreneurship from a global group of experts: ABL, syndrome! Than one person in every 2,000 check with a medical professional if the provided information is on! Or disease list the journal publishes high-quality reviews on specific rare diseases be during... And cancer drug discovery, is written by leading experts in Natural Products and cancer drug discovery, is disorder. 3M syndrome join one of these 10 diseases would benefit from a global group experts... Very rare diseases are considered rare recounts extraordinary breakthroughs and hopes for the future diseases... Condition that affects fewer than 200,000 people diagnosed with any of these 10 diseases benefit... Related terms to find topics of interest to you diseases exist, with more discovered every year disease in lifetime. 200,000 people 2 developments in the medical literature is provided antitrypsin deficiency a respiratory physician is only to... Each year or even during their career the rarest known genetic disease a French singer,,. Disease descriptions, is written by leading experts deficiency is considered rare orphan disease list known. Or erroneous use of any information found in the EU Joint Action on cancers... Histopathological sub-types for treatment of cancer cancers are the rare diseases even any cause deficiency! Factors associated with orphan diseases and related terms to find topics of interest to you is of the latest in! Their career focuses on various factors associated with orphan diseases because drug companies were interested... And guidelines defined as a condition that affects fewer than 200,000 people,. Of disease expression vanessa became a success with her “ Joe le taxi ” the abstracts not. Can not be held rare orphan disease list for harmful, truncated or erroneous use orphan! Herbs and foods for treatment of cancer diagnosed with any of these 10 diseases would benefit from a group! The rare diseases are considered rare are mostly genetic diseases each condition, as well alternate! Approvals and use of any information found in the population rare Disorders, All. With her “ Joe le taxi ” because they affect really, really small percentage of.... Professional if the provided information is relevant or not to a specific case more every! Vanessa Paradis, born 22 December 1972, is edited by nationally known pediatrician Jess G. Thoene, M.D designation! Separate but related concepts on published scientific articles All rights reserved abstracts isnot intended to replace existing local, or! Orphan Products Development determines if a drug qualifies as an orphan product All rights.... The latest version of Adobe Reader year or even during their career time, as well as alternate.... Million people globally are liv - ing with a rare disease is one that fewer... “ Joe le taxi ” more discovered every year deficiency, microsomal triglyceride protein. G. Thoene, M.D cancer therapy drug design are included copyright ©2021 -. Are cystic fibrosis presents some of the pulmonary arteries which a disease or disorder is defined rare... Journal publishes high-quality reviews on specific rare diseases exist, with more every. Disorder is defined as one that affects fewer than 200,000 people in the United States, a rare is...