In addition, 2.5 million Americans are undiagnosed and may be at risk for long-term health complications.Relapsing polychondritis (RP) is a rheumatic autoimmune disease. This list includes the main name for each condition, as well as alternate names.Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.The database is run by Medical Object Oriented Software Enterprises Ltd, a company based in London. Learn more about the diseases being researched at BRI.There are approximately 110+ different types of autoimmune diseases and they affect more than 23 million Americans. A list of autoimmune diseases and their symptoms Medically reviewed by Nancy Carteron, M.D., FACR — Written by Jesse Klein on June 29, 2020 Skin and connective tissue WHO main areas of work include: health systems, promoting health through the life-course, noncommunicable diseases, communicable diseases, corporate services, preparedness, surveillance and response. Por favor,If you have problems viewing PDF files, download the latest version of,Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311,expand submenu for Find Diseases By Category,expand submenu for Patients, Families and Friends,expand submenu for Healthcare Professionals.Browse the GARD list of rare diseases and related terms to find topics of interest to you. Available:K. Brown, "Online Predicted human Interaction Database,",S. Hunter and P. Jones, "InterPro in 2011: new developments in the family and domain prediction database,",C. Bult and J. Eppig, "The Mouse genome Database (MGD): mouse biology and model systems,",M. Dwinell, E. Worthey and S. M, "The Rat genome Database 2009: variation, ontologies and pathways,",A. Homosh, "Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders,","Control of VEGF-A transcriptional programs by pausing and genomic compartmentalization","Network medicine analysis of COPD multimorbidities","Organ system heterogeneity DB: A database for the visualization of phenotypes at the organ system level","Molecularly and clinically related drugs and diseases are enriched in phenotypically similar drug-disease pairs","Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline","A Computational Framework to Infer Human Disease-Associated Long Noncoding RNAs","Choline Protects Against Cardiac Hypertrophy Induced by Increased After-load","Detection of differentially methylated gene promoters in failing and nonfailing human left ventricle myocardium using computation analysis","Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes","Integrated analysis of transcript-level regulation of metabolism reveals disease-relevant nodes of the human metabolic network","Charting the NF-κB Pathway Interactome Map",International Society for Computational Biology,List of open-source bioinformatics software,"Databases, data tombs and dust in the wind","The Comparative Toxicogenomics Database: update 2011","Text Mining Effectively Scores and Ranks the Literature for Improving Chemical-Gene-Disease Curation at the Comparative Toxicogenomics Database","DisGeNET: a Cytoscape plugin to visualize, integrate, search and analyze gene–disease networks","Systematic analysis of gene properties influencing organ system phenotypes in mammalian perturbations","Comparative Toxicogenomics Database: a knowledgebase and discovery tool for chemical–gene–disease networks","The Universal Protein Resource (UniProt)","Ongoing and future developments at the Universal Protein Resource","The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease","Extraction of relations between genes and diseases from text and large-scale data analysis: implications for translational research","DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes","Predicting disease genes using protein-protein interactions",https://en.wikipedia.org/w/index.php?title=Gene_Disease_Database&oldid=970854475,Creative Commons Attribution-ShareAlike License,Ongoing and future developments at the Universal Protein Resource.Yes – manual and automatic. It is part of the Linked Life Data, of the LMU in Munchen, Germany.Extracts gene-disease associations from MEDLINE abstract using the BeFree system. But many of the diseases on this list are preventable and treatable.
Department of Health & Human Services,Caring for Your Patient with a Rare Disease,Preguntas Más Frecuentes Sobre Enfermedades Raras,Como Encontrar un Especialista en su Enfermedad,Consejos Para una Condición no Diagnosticada,Consejos Para Obtener Ayuda Financiera Para Una Enfermedad,Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos,Aromatic L-amino acid decarboxylase deficiency,Attenuated familial adenomatous polyposis,Hydrocephalus-cleft palate-joint contractures syndrome,Acquired amegakaryocytic thrombocytopenia,Gamma aminobutyric acid transaminase deficiency,Abdominal chemodectomas with cutaneous angiolipomas,Congenital extrahepatic portosystemic shunt,Ectodermal dysplasia alopecia preaxial polydactyly,Medium-chain acyl-coenzyme A dehydrogenase deficiency,Short-chain acyl-CoA dehydrogenase deficiency,Acanthosis nigricans muscle cramps acral enlargement,Acetyl CoA acetyltransferase 2 deficiency,Aplasia cutis congenita intestinal lymphangiectasia,Short-limb skeletal dysplasia with severe combined immunodeficiency,Autosomal dominant compelling helio ophthalmic outburst syndrome,Pyramidal molars-abnormal upper lip syndrome,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,Sideroblastic anemia pyridoxine-refractory autosomal recessive,Autoimmune pulmonary alveolar proteinosis,Acral dysostosis dyserythropoiesis syndrome,Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia,Acromegaloid changes, cutis verticis gyrata and corneal leukoma,Acromegaloid features, overgrowth, cleft palate and hernia,Acromesomelic dysplasia Campailla Martinelli type,Acromesomelic dysplasia Hunter Thompson type,Acroosteolysis-keloid-like lesions-premature aging syndrome,Pseudopapilledema blepharophimosis hand anomalies,ACTH-independent macronodular adrenal hyperplasia,Febrile infection-related epilepsy syndrome,Acute lymphoblastic leukemia congenital sporadic aniridia,Acute posterior multifocal placoid pigment epitheliopathy,Acute myeloblastic leukemia without maturation,Acute myeloblastic leukemia with maturation,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2),Acute myeloid leukemia with recurrent genetic anomaly,Early-onset, autosomal dominant Alzheimer disease,AP-4-Associated Hereditary Spastic Paraplegia,Autosomal dominant cerebellar ataxia, deafness, and narcolepsy,Autosomal dominant centronuclear myopathy,Musculocontractural Ehlers-Danlos syndrome,Adenine phosphoribosyltransferase deficiency,Adenosine monophosphate deaminase 1 deficiency,Anemia due to Adenosine triphosphatase deficiency,Adenosquamous carcinoma of the endometrium,Autosomal dominant leukodystrophy with autonomic disease,Autosomal dominant partial epilepsy with auditory features,Hereditary proximal myopathy with early respiratory failure,Adnexal spiradenoma/cylindroma of a sweat gland,Autosomal dominant nocturnal frontal lobe epilepsy,3-beta-hydroxysteroid dehydrogenase deficiency,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,Retinal vasculopathy with cerebral leukodystrophy,Autosomal dominant tubulointerstitial kidney disease,Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations,Autosomal dominant tubulointerstitial kidney disease due to REN mutations,Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations,Autosomal dominant neuronal ceroid lipofuscinosis 4B,Adult progressive spinal muscular atrophy Aran Duchenne type,Adult-onset vitelliform macular dystrophy,Hereditary diffuse leukoencephalopathy with spheroids,Adverse events of 5-alpha-reductase inhibitors,Autosomal dominant vitreoretinochoroidopathy,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,Isolated growth hormone deficiency type 3,Agammaglobulinemia, microcephaly, and severe dermatitis,L-arginine:glycine amidinotransferase deficiency,Congenital generalized lipodystrophy type 1,Severe congenital neutropenia autosomal recessive 3,Hypochromic microcytic anemia with iron overload,Amelogenesis imperfecta hypoplastic type, IG,Amelogenesis imperfecta hypomaturation type,Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1,Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2,Aminolevulinate dehydratase deficiency porphyria,Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus,Albinism ocular late onset sensorineural deafness,Microcephaly-albinism-digital anomalies syndrome,Eosinophilic granulomatosis with polyangiitis,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Alopecia epilepsy oligophrenia syndrome of Moynahan,Alopecia-intellectual disability syndrome,Alopecia universalis onychodystrophy vitiligo,Alopecia, epilepsy, pyorrhea, mental subnormality,Alopecia-contractures-dwarfism-intellectual disability syndrome,Alpha-ketoglutarate dehydrogenase deficiency,Alpha-thalassemia x-linked intellectual disability syndrome,Combined immunodeficiency due to partial RAG1 deficiency,N-acetyl-alpha-D-galactosaminidase deficiency type III,Leiomyomatosis, esophageal and vulval, with nephropathy,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,T-cell immunodeficiency, congenital alopecia and nail dystrophy,Alzheimer's disease without neurofibrillary tangles,Amaurosis congenita cone-rod type with congenital hypertrichosis,Arthrogryposis multiplex congenita, distal, X-linked,Arthrogryposis multiplex congenita neurogenic type,Amelogenesis imperfecta local hypoplastic,Amelogenesis imperfecta pigmented hypomaturation type,Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis,Primary localized cutaneous nodular amyloidosis,Amyloidosis of gingiva and conjunctiva with intellectual disability,Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1,Amyotrophy, neurogenic scapuloperoneal, New England type,Sideroblastic anemia pyridoxine-responsive autosomal recessive,Anemia sideroblastic and spinocerebellar ataxia,Congenital dyserythropoietic anemia type 1,Congenital dyserythropoietic anemia type 2,Angel shaped phalangoepiphyseal dysplasia,Angioimmunoblastic lymphadenopathy with dysproteinemia,Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert,Hypohidrotic ectodermal dysplasia with immune deficiency,X-linked hypohidrotic ectodermal dysplasia,Hypohidrotic ectodermal dysplasia autosomal recessive,Aniridia - ptosis - intellectual disability - familial obesity,Aniridia renal agenesis psychomotor retardation,Dyssegmental dysplasia Rolland-Desbuquois type,Dyssegmental dysplasia Silverman-Handmaker type,Ankyloblepharon filiforme adnatum cleft palate,Ankyloblepharon filiforme imperforate anus,Ankylosing vertebral hyperostosis with tylosis,Familial thoracic aortic aneurysm and aortic dissection,Tendons, extensor, of fingers, anomalous insertion of,Anomalous origin of right pulmonary artery familial,Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges,Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly,Anophthalmia esophageal atresia cryptorchidism,Anophthalmia megalocornea cardiopathy skeletal anomalies,Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia,Isolated anterior cervical hypertrichosis,Hereditary antithrombin deficiency type 2,Aortic arch anomaly - peculiar facies - intellectual disability,Aphalangia partial with syndactyly and duplication of metatarsal IV,Coloboma of macula with type B brachydactyly,Aplasia cutis congenita of limbs recessive,Intellectual disability-developmental delay-contractures syndrome,Hydrocephalus due to congenital stenosis of aqueduct of sylvius,Autosomal recessive distal renal tubular acidosis,Arachnodactyly - intellectual disability - dysmorphism,Glutamate formiminotransferase deficiency,Autosomal recessive axonal neuropathy with neuromyotonia,Arthrogryposis renal dysfunction cholestasis syndrome,Spinocerebellar ataxia autosomal recessive 8,Autosomal recessive spinocerebellar ataxia 9,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,Autosomal recessive centronuclear myopathy,Ichthyosis with hypotrichosis, autosomal recessive,Joubert syndrome with oculorenal anomalies,Progressive external ophthalmoplegia, autosomal recessive 1,Autosomal recessive polycystic kidney disease,Arrhythmogenic right ventricular cardiomyopathy,Arthrogryposis epileptic seizures migrational brain disorder,Arthrogryposis multiplex congenita CNS calcification,Arthrogryposis multiplex congenita pulmonary hypoplasia,Arthrogryposis multiplex congenita whistling face,Arthrogryposis multiplex with deafness, inguinal hernias, and early death,Arthrogryposis-like hand anomaly and sensorineural deafness,Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay,Camptodactyly arthropathy coxa vara pericarditis syndrome,Chondrodysplasia punctata 1, X-linked recessive,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,Corticosteroid-sensitive aseptic abscesses,Familial platelet disorder with associated myeloid malignancy,Coronal synostosis, syndactyly and jejunal atresia,Ataxia - hypogonadism - choroidal dystrophy,Palmoplantar keratoderma-sclerodactyly syndrome,Muscular dystrophy white matter spongiosis,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Hemolytic uremic syndrome, atypical, childhood,PDGFRB-associated chronic eosinophilic leukemia,Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia,Dextrocardia with unusual facies and microphthalmia,Autosomal dominant candidiasis familial chronic mucocutaneous,Dianzani autoimmune lymphoproliferative syndrome,Immunodysregulation, polyendocrinopathy and enteropathy X-linked,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2,Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1,Autosomal dominant distal renal tubular acidosis,Dyskeratosis congenita autosomal dominant,Dominant dystrophic epidermolysis bullosa,Primary familial and congenital polycythemia,Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome,Convulsions benign familial neonatal dominant form,Autosomal dominant intellectual disability 30,Autosomal dominant intellectual disability 40,Autosomal dominant intellectual disability 49,SYNGAP1-related non-syndromic intellectual disability,DYRK1A-Related Intellectual Disability Syndrome,Autosomal dominant intermediate Charcot-Marie-Tooth,Autosomal dominant non-syndromic intellectual disability,Autosomal dominant optic atrophy and cataract,Autosomal dominant optic atrophy plus syndrome,Worth type autosomal dominant osteosclerosis,Preaxial deficiency, postaxial polydactyly and hypospadias,Autosomal dominant pseudohypoaldosteronism type 1,Severe congenital neutropenia autosomal dominant,Autosomal dominant spondyloepiphyseal dysplasia tarda,Autosomal dominant type B hypercholesterolemia,Autosomal recessive candidiasis familial chronic mucocutaneous,Spinocerebellar ataxia autosomal recessive 3,Autosomal recessive distal osteolysis syndrome,Dyskeratosis congenita autosomal recessive,Severe generalized recessive dystrophic epidermolysis bullosa,Recessive dystrophic epidermolysis bullosa-generalized other,Autosomal recessive intellectual disability 58,Autosomal recessive intermediate Charcot-Marie-Tooth disease,Ectopia lentis, isolated autosomal recessive,Autosomal recessive juvenile Parkinson disease,Autosomal recessive nonsyndromic congenital nuclear cataract,Autosomal recessive palmoplantar keratoderma and congenital alopecia,Autosomal recessive pseudohypoaldosteronism type 1,Autosomal recessive spastic paraplegia type 49,Keratoderma palmoplantar spastic paralysis,Posterior column ataxia with retinitis pigmentosa.
Department of Health & Human Services,Caring for Your Patient with a Rare Disease,Preguntas Más Frecuentes Sobre Enfermedades Raras,Como Encontrar un Especialista en su Enfermedad,Consejos Para una Condición no Diagnosticada,Consejos Para Obtener Ayuda Financiera Para Una Enfermedad,Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos,Aromatic L-amino acid decarboxylase deficiency,Attenuated familial adenomatous polyposis,Hydrocephalus-cleft palate-joint contractures syndrome,Acquired amegakaryocytic thrombocytopenia,Gamma aminobutyric acid transaminase deficiency,Abdominal chemodectomas with cutaneous angiolipomas,Congenital extrahepatic portosystemic shunt,Ectodermal dysplasia alopecia preaxial polydactyly,Medium-chain acyl-coenzyme A dehydrogenase deficiency,Short-chain acyl-CoA dehydrogenase deficiency,Acanthosis nigricans muscle cramps acral enlargement,Acetyl CoA acetyltransferase 2 deficiency,Aplasia cutis congenita intestinal lymphangiectasia,Short-limb skeletal dysplasia with severe combined immunodeficiency,Autosomal dominant compelling helio ophthalmic outburst syndrome,Pyramidal molars-abnormal upper lip syndrome,Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies,Sideroblastic anemia pyridoxine-refractory autosomal recessive,Autoimmune pulmonary alveolar proteinosis,Acral dysostosis dyserythropoiesis syndrome,Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia,Acromegaloid changes, cutis verticis gyrata and corneal leukoma,Acromegaloid features, overgrowth, cleft palate and hernia,Acromesomelic dysplasia Campailla Martinelli type,Acromesomelic dysplasia Hunter Thompson type,Acroosteolysis-keloid-like lesions-premature aging syndrome,Pseudopapilledema blepharophimosis hand anomalies,ACTH-independent macronodular adrenal hyperplasia,Febrile infection-related epilepsy syndrome,Acute lymphoblastic leukemia congenital sporadic aniridia,Acute posterior multifocal placoid pigment epitheliopathy,Acute myeloblastic leukemia without maturation,Acute myeloblastic leukemia with maturation,Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2),Acute myeloid leukemia with recurrent genetic anomaly,Early-onset, autosomal dominant Alzheimer disease,AP-4-Associated Hereditary Spastic Paraplegia,Autosomal dominant cerebellar ataxia, deafness, and narcolepsy,Autosomal dominant centronuclear myopathy,Musculocontractural Ehlers-Danlos syndrome,Adenine phosphoribosyltransferase deficiency,Adenosine monophosphate deaminase 1 deficiency,Anemia due to Adenosine triphosphatase deficiency,Adenosquamous carcinoma of the endometrium,Autosomal dominant leukodystrophy with autonomic disease,Autosomal dominant partial epilepsy with auditory features,Hereditary proximal myopathy with early respiratory failure,Adnexal spiradenoma/cylindroma of a sweat gland,Autosomal dominant nocturnal frontal lobe epilepsy,3-beta-hydroxysteroid dehydrogenase deficiency,Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,Retinal vasculopathy with cerebral leukodystrophy,Autosomal dominant tubulointerstitial kidney disease,Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations,Autosomal dominant tubulointerstitial kidney disease due to REN mutations,Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations,Autosomal dominant neuronal ceroid lipofuscinosis 4B,Adult progressive spinal muscular atrophy Aran Duchenne type,Adult-onset vitelliform macular dystrophy,Hereditary diffuse leukoencephalopathy with spheroids,Adverse events of 5-alpha-reductase inhibitors,Autosomal dominant vitreoretinochoroidopathy,Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,Isolated growth hormone deficiency type 3,Agammaglobulinemia, microcephaly, and severe dermatitis,L-arginine:glycine amidinotransferase deficiency,Congenital generalized lipodystrophy type 1,Severe congenital neutropenia autosomal recessive 3,Hypochromic microcytic anemia with iron overload,Amelogenesis imperfecta hypoplastic type, IG,Amelogenesis imperfecta hypomaturation type,Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1,Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2,Aminolevulinate dehydratase deficiency porphyria,Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus,Albinism ocular late onset sensorineural deafness,Microcephaly-albinism-digital anomalies syndrome,Eosinophilic granulomatosis with polyangiitis,Autosomal dominant palmoplantar keratoderma and congenital alopecia,Alopecia epilepsy oligophrenia syndrome of Moynahan,Alopecia-intellectual disability syndrome,Alopecia universalis onychodystrophy vitiligo,Alopecia, epilepsy, pyorrhea, mental subnormality,Alopecia-contractures-dwarfism-intellectual disability syndrome,Alpha-ketoglutarate dehydrogenase deficiency,Alpha-thalassemia x-linked intellectual disability syndrome,Combined immunodeficiency due to partial RAG1 deficiency,N-acetyl-alpha-D-galactosaminidase deficiency type III,Leiomyomatosis, esophageal and vulval, with nephropathy,Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,T-cell immunodeficiency, congenital alopecia and nail dystrophy,Alzheimer's disease without neurofibrillary tangles,Amaurosis congenita cone-rod type with congenital hypertrichosis,Arthrogryposis multiplex congenita, distal, X-linked,Arthrogryposis multiplex congenita neurogenic type,Amelogenesis imperfecta local hypoplastic,Amelogenesis imperfecta pigmented hypomaturation type,Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis,Primary localized cutaneous nodular amyloidosis,Amyloidosis of gingiva and conjunctiva with intellectual disability,Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1,Amyotrophy, neurogenic scapuloperoneal, New England type,Sideroblastic anemia pyridoxine-responsive autosomal recessive,Anemia sideroblastic and spinocerebellar ataxia,Congenital dyserythropoietic anemia type 1,Congenital dyserythropoietic anemia type 2,Angel shaped phalangoepiphyseal dysplasia,Angioimmunoblastic lymphadenopathy with dysproteinemia,Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert,Hypohidrotic ectodermal dysplasia with immune deficiency,X-linked hypohidrotic ectodermal dysplasia,Hypohidrotic ectodermal dysplasia autosomal recessive,Aniridia - ptosis - intellectual disability - familial obesity,Aniridia renal agenesis psychomotor retardation,Dyssegmental dysplasia Rolland-Desbuquois type,Dyssegmental dysplasia Silverman-Handmaker type,Ankyloblepharon filiforme adnatum cleft palate,Ankyloblepharon filiforme imperforate anus,Ankylosing vertebral hyperostosis with tylosis,Familial thoracic aortic aneurysm and aortic dissection,Tendons, extensor, of fingers, anomalous insertion of,Anomalous origin of right pulmonary artery familial,Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges,Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly,Anophthalmia esophageal atresia cryptorchidism,Anophthalmia megalocornea cardiopathy skeletal anomalies,Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia,Isolated anterior cervical hypertrichosis,Hereditary antithrombin deficiency type 2,Aortic arch anomaly - peculiar facies - intellectual disability,Aphalangia partial with syndactyly and duplication of metatarsal IV,Coloboma of macula with type B brachydactyly,Aplasia cutis congenita of limbs recessive,Intellectual disability-developmental delay-contractures syndrome,Hydrocephalus due to congenital stenosis of aqueduct of sylvius,Autosomal recessive distal renal tubular acidosis,Arachnodactyly - intellectual disability - dysmorphism,Glutamate formiminotransferase deficiency,Autosomal recessive axonal neuropathy with neuromyotonia,Arthrogryposis renal dysfunction cholestasis syndrome,Spinocerebellar ataxia autosomal recessive 8,Autosomal recessive spinocerebellar ataxia 9,Autosomal recessive Charcot-Marie-Tooth disease with hoarseness,Autosomal recessive centronuclear myopathy,Ichthyosis with hypotrichosis, autosomal recessive,Joubert syndrome with oculorenal anomalies,Progressive external ophthalmoplegia, autosomal recessive 1,Autosomal recessive polycystic kidney disease,Arrhythmogenic right ventricular cardiomyopathy,Arthrogryposis epileptic seizures migrational brain disorder,Arthrogryposis multiplex congenita CNS calcification,Arthrogryposis multiplex congenita pulmonary hypoplasia,Arthrogryposis multiplex congenita whistling face,Arthrogryposis multiplex with deafness, inguinal hernias, and early death,Arthrogryposis-like hand anomaly and sensorineural deafness,Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay,Camptodactyly arthropathy coxa vara pericarditis syndrome,Chondrodysplasia punctata 1, X-linked recessive,Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,Corticosteroid-sensitive aseptic abscesses,Familial platelet disorder with associated myeloid malignancy,Coronal synostosis, syndactyly and jejunal atresia,Ataxia - hypogonadism - choroidal dystrophy,Palmoplantar keratoderma-sclerodactyly syndrome,Muscular dystrophy white matter spongiosis,Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,Hemolytic uremic syndrome, atypical, childhood,PDGFRB-associated chronic eosinophilic leukemia,Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia,Dextrocardia with unusual facies and microphthalmia,Autosomal dominant candidiasis familial chronic mucocutaneous,Dianzani autoimmune lymphoproliferative syndrome,Immunodysregulation, polyendocrinopathy and enteropathy X-linked,Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons,Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2,Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1,Autosomal dominant distal renal tubular acidosis,Dyskeratosis congenita autosomal dominant,Dominant dystrophic epidermolysis bullosa,Primary familial and congenital polycythemia,Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome,Convulsions benign familial neonatal dominant form,Autosomal dominant intellectual disability 30,Autosomal dominant intellectual disability 40,Autosomal dominant intellectual disability 49,SYNGAP1-related non-syndromic intellectual disability,DYRK1A-Related Intellectual Disability Syndrome,Autosomal dominant intermediate Charcot-Marie-Tooth,Autosomal dominant non-syndromic intellectual disability,Autosomal dominant optic atrophy and cataract,Autosomal dominant optic atrophy plus syndrome,Worth type autosomal dominant osteosclerosis,Preaxial deficiency, postaxial polydactyly and hypospadias,Autosomal dominant pseudohypoaldosteronism type 1,Severe congenital neutropenia autosomal dominant,Autosomal dominant spondyloepiphyseal dysplasia tarda,Autosomal dominant type B hypercholesterolemia,Autosomal recessive candidiasis familial chronic mucocutaneous,Spinocerebellar ataxia autosomal recessive 3,Autosomal recessive distal osteolysis syndrome,Dyskeratosis congenita autosomal recessive,Severe generalized recessive dystrophic epidermolysis bullosa,Recessive dystrophic epidermolysis bullosa-generalized other,Autosomal recessive intellectual disability 58,Autosomal recessive intermediate Charcot-Marie-Tooth disease,Ectopia lentis, isolated autosomal recessive,Autosomal recessive juvenile Parkinson disease,Autosomal recessive nonsyndromic congenital nuclear cataract,Autosomal recessive palmoplantar keratoderma and congenital alopecia,Autosomal recessive pseudohypoaldosteronism type 1,Autosomal recessive spastic paraplegia type 49,Keratoderma palmoplantar spastic paralysis,Posterior column ataxia with retinitis pigmentosa.