It is not a substitute for professional medical advice, diagnosis or treatment. 2. Introduction. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. Front Med. 2019. Filter Analysis. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. 1 in 4 CHANCE OF BEING AFFECTED: ratio of affected to normal offspring is 1:3. 2011 Feb;32(2):144-51 Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype. If you continue browsing the site, you agree to the use of cookies on this website. These disorders are referred to as complex, polygenic or multifactorial conditions, and they result from the combined action of multiple genes and environmental factors. When a certain gene is known to cause a disease, we refer to it as a single gene disorder or a Mendelian disorder. Mendelian or monogenic disorders are the kind of genetic disorders in humans that arise from a mutation in a single gene. These people have Mendelian genetic disorders caused by mutations in genes essential for pain-sensing in humans. It is intended for informational purposes only.  |  The various types of Mendelian disorders can be identified easily from the pedigree analysis. 2009 Jun 9;106(23):9362-7 Curr Genomics. Here, we hypothesize that this phenotypic convergence is a consequence of common abnormalities at the … In humans, some findings suggest that along with this type of genetic inheritance, there are other environmental factors like lack of vitamin D, adolescent obesity etc. Author information. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. It is characterized by severe, recurrent infections, either systemic (widespread) or localized. Diseases associated with single-gene non-Mendelian inheritance. Coronary heart disease, diabetes, asthma, bipolar disorder (manic depression) and depression are examples of polygenic illnesses. The most serious types are the Watch Queue Queue It does not follow Mendel's principles of inheritance. In 2014, we compiled a list of 34 conditions … These disorders follow the laws of mendels inheritance. -, Nat Rev Genet. Mendelian diseases are considered to be rare, yet genetic disorders are estimated to occur at a rate of 40 to 82 per 1000 live births. It's up to 100%. The volume provides a clear and solid basis for an understanding of the genetics of complex traits, from the basic principles of the classical mendelian laws, through the bases of molecular strategies to detect genetic susceptibility, to the non-mendelian patterns of inheritance in psychiatric disorders. The first clear-cut demonstration of Mendelian inheritance of resistance to P. coronata was done by Davies and Jones (1927) studying a cross between the susceptible Scotch Potato oat and the resistant Red Rustproof.. This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. -, Hum Mutat. General Features of AR Disorders. contributing to certain types of genetic disorders. Linkage studies have previously been the main tool to elucidate the genetics of Mendelian disorders; however, extremely rare disorders or sporadic cases caused by de novo variants are not amendable to this study design. Individuals with a growing number of the so-called rare disorders exhibit unique, disorder-specific DNA methylation patterns, consequent to the underlying gene defects. We aimed to identify cxSVs relevant to Mendelian disease using short-read whole-genome sequencing (WGS), resolve the precise variant configuration and investigate possible mechanisms of cxSV formation. S1B). By excluding variants according to different criterias such as low frequency in public databases (Ex. The parents of an affected individual are both heterozygous (carriers) but are phenotypically normal. Haemophilia is a genetic disorder that impairs the body’s ability to coagulate blood when a blood vessel breaks. Our knowledge of the diversity of Mendelian phenotypes is increasingly sophisticated, but substantial gaps remain. Some Mendelian disorders are cystic fibrosis, haemophilia , thalassaemia, sickle cell anaemia and phenylketonuria . Mendelian tool does not provide medical advice. Mendelian diseases are considered to be rare, yet genetic disorders are estimated to occur at a rate of 40 to 82 per 1000 live births. To study inheritance patterns in families and uncover possible genetic risk factors and disorders, we recommend constructing a pedigree as a normal part of history-taking for every new patient (Fig. Studies of human pain genes has revealed hitherto unknown mechanisms of nociceptor (pain-sensing neuron) function. Isolated 17,20-lyase deficiency; 202110; CYP17A1 USA.gov. It is planned that with the help of the … NLM Background: Genetic disorders and congenital anomalies are the leading causes of infant mortality. Mendelian diseases are usually defined as a mutation in a single gene that can cause a disease, which is inherited according to Mendel's laws. 2009 May;84(5):692-7 The catalogue is not complete and it does not include all the diseases that have been diagnosed in this population. Mendelian disorders are caused due to point mutations. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or … A total list of 3,275 unique protein coding genes related to human disease was obtained by merging (i) the whole list of human genes known to harbour causal variants for Mendelian disorders, available from a hand-curated version of the OMIM database (referred to as hOMIM) ; with (ii) the list of genes with variants contributing to risk for complex diseases, available from the GWAS catalogue (Supplementary … Of more general importance, they have also generated new classes of analgesic which are in clinical trials at … Am J Hum Genet. 3 Major Patterns of Monogenic Inheritance. Clipboard, Search History, and several other advanced features are temporarily unavailable. According to Mendelian genetics, its inheritance chases inheritance from two holding parents. With the advent of clinical exome sequencing, Mendelian disorders of the epigenetic machinery (MDEMs)—also known as chromatin modifying disorders—have emerged as one of the most rapidly expanding groups (1, 2). The Mendelian Disorders of the Epigenetic Machinery (MDEMs) have emerged as a class of Mendelian disorders caused by loss-of-function variants in epigenetic regulators. 1 author. Exome sequencing greatly expedites the progressive research of Mendelian diseases. A locus may be present on an autosome or on a sex chromosome, and it may be manifest in a dominant or a recessive mode. Mendelian disorders result from a mutation at a single genetic locus. Sickle-cell anemia is a type of autosomal recessive genetic disorder. It follows Mendel's principles of inheritance. Wiley Interdiscip Rev Syst Biol Med. Exome sequencing has been swiftly applied to the discovery of new causal variants and candidate genes for a number of Mendelian disorders such as Kabuki syndrome, Miller syndrome and Fowler syndrome. -. These are all examples of single gene disorders. Rare, indeed, is the family that is entirely free of any known genetic disorder. You know now that historically the first method which has been used to study and to find the genes underlying Mendelian disorders was a linkage analysis. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Mendelian tool does not provide medical advice. 1000genomes, dbSNP138 and Exome Sequencing Project) and scores of patogenicity (Ex. Whole-genome resequencing reveals genetic indels of feathered-leg traits in domestic chickens. Kiryluk K, Goldstein DB, Rowe JW, Gharavi AG, Wapner R, Chung WK. Get the latest public health information from CDC: https://www.coronavirus.gov, Get the latest research information from NIH: https://www.nih.gov/coronavirus, Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. It is intended for informational purposes only. Objective To test the utility and diagnostic yield of a medical-exome gene panel for identifying pathogenic variants in Mendelian disorders. 2018 Jun;61(6):315-321. doi: 10.1016/j.ejmg.2018.01.005. With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic diseases are a major cause of disability, death, and human tragedy. The catalogue includes Mendelian diseases that have been reported in the literature and were diagnosed in the Arab and Druze population of Israel or were reported as Palestinian Arabs and are either relatively frequent or were first reported in this population. Recent advances in genomics and bioinformatics have enabled the discovery of the genetic basis of Mendelian disorders using genome-wide approaches, which are more rapid and cost-effective than previous … 2012 Oct;57(10):621-32. doi: 10.1038/jhg.2012.91. Epub 2018 Jan 4. It is not a substitute for professional medical advice, diagnosis or treatment. As a rule, single gene disorders are not very common. 1. Mendelian disorder. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Phenotype The physical characteristics of a cell or organism as defined by its genetic constitution. Mendelian disorders occur in families with a pattern that reflects the inheritance of a single causative gene. The … Whole transcriptome sequencing is a promising supplement to WES, although empirical data on the contribution of RNA analysis to the diagnosis of Mendelian diseases … In the past year three new human pain genes have been reported. Chromosomal disorder. Patients should discuss their findings with their healthcare provider This service is using Human Phenotype … Finding disease variants in Mendelian disorders by using sequence data: methods and applications. Single-gene disorders can be passed on to subsequent generations in several ways. Although each MDEM has a different causative gene, they exhibit several overlapping disease manifestations. For example, you may have heard of cystic fibrosis, sickle cell disease, Fragile X syndrome, muscular dystrophy, or Huntington disease. Growing evidence suggests that human gene annotation remains incomplete; however, it is unclear how this affects different tissues and our understanding of different disorders. Because it is unlikely that females will have two altered … Complex disorders or in other word is multifactorial, is an interplay between genes, and then several genes, not one, and also the … For example, a duplication-triplication-inversion-duplication was found at the MECP2 and PLP1 loci in individuals with MECP2 dupli-cation syndrome or Lubs syndrome (MIM: 300260) and Pelizaeus-Merzbacher disease (MIM: 312080) [ 5, 6], and a duplication-inversion-terminal deletion of chromosome 13 was present in foetuses with 13q deletion … The pattern of inheritance of Mendelian disorders in a family can be traced by Pedigree analysis. Naureen Z 1, Lorusso L 2, Manganotti P 3, Caruso P 3, Mazzon G 3, Cecchin S 4, Marceddu G 5, Bertelli M 6. doi: 10.1002/wsbm.1443. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. As a rule, single gene disorders are not very common. However, if we take as a cumulative amount of them, they account in approximately 0.4 percent of all life birth. Wang J, Zhao L, Wang X, Chen Y, Xu M, Soens ZT, Ge Z, Wang PR, Wang F, Chen R. Genome Biol. 2011 Dec 9;89(6):701-12. doi: 10.1016/j.ajhg.2011.11.003. For exa… Methods Next-generation sequencing was performed with the TruSight One gene panel (targeting 4813 genes) followed by MiSeq sequencing on 216 patients who presented with suspected genetic disorders as assessed by their attending physicians. These disorders run in families and can be autosomal or sex-linked depending whether the affected gene is located on autosomes or sex chromosomes, and they can also be dominant or recessive depending if one or two alleles are necessary to develop the disorder. Examples of numerical disorders include trisomy, monosomy and triploidy. The condition is found to be present since birth. Epub 2009 Nov 13. Here, we detect previously unannotated transcription from Genotype-Tissue Expression RNA sequencing data across 41 human tissues. Epub 2011 Dec 1. Solution for The Online Mendelian Inheritancein Man (OMIM) databaseis a catalog of human genesand human disorders that are inheritedin a Mendelian manner.… Anonymous . In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. There are thousands of known single-gene disorders. This chapter presents the basic principles of Mendelian inheritance, the molecular basis for a number of common genetic disorders, and current methods of molecular diagnosis.  |  Methods: We performed short-read WGS and analysis of breakpoint junctions to identify cxSVs in a cohort of 1324 undiagnosed rare disease patients. -, Am J Hum Genet. Abstract: Mendelian neurodevelopmental disorders customarily present with complex and overlapping symptoms, complicating the clinical diagnosis. In addition, de novo variants were also identified for sporadic cases, which would have not been possible without exome sequencing. In contrast, Mendelian disorders have received little attention mainly due to the lack of newer and more powerful methods to study these disorders. Besides providing insights to the pathophysiology and molecular biology of these disorders, … Ionita-Laza I, Makarov V, Yoon S, Raby B, Buxbaum J, Nicolae DL, Lin X. Family history of affected individuals reveals that … Exome sequencing identifies the cause of a mendelian disorder. Exome sequencing has now become technically feasible and more cost-effective due to the recent advances in high-throughput sequence capture methods and next-generation sequencing technologies which have offered new opportunities for Mendelian disorder research. Mendelian diseases are characterized by strong genetic effect meaning that a specific mutation, the presence of this mutation is necessary and enough to develop the disease. Chromosome disorders can be classified into two main types; numerical and structural. This disorder is mainly due to alteration or mutation in a single gene. Epub 2012 Jul 26. Single gene inheritance is also called Mendelian or monogenetic inheritance. COVID-19 is an emerging, rapidly evolving situation. X-linked recessive disorders are also caused by mutations in genes on the X chromosome. When the glutamic acid in the sixth position of the beta globin chain of hemoglobin molecule is restored by valine, it is caused. The global Mendelian Disorders Testing market is valued at xx million USD in 2020 and is expected to reach xx million USD by the end of 2026, growing at a CAGR of xx% … 2019 May 7;170(9):635-642. doi: 10.7326/M18-0425. It is intended for informational purposes only. Sickle cell anaemia; Muscular dystrophy; Cystic fibrosis; Thalassemia; Phenylketonuria; Colour blindness; Skeletal dysplasia; Haemophilia; Haemophilia On the other hand, Chromosomal disorders are caused due to absence or excess of one or more chromosomes. Mendelian disorders result from a mutation at a single genetic locus. These disorders are known as monogenetic disorders (disorders of a single gene). These are diseases that can be inherited via a Mendelian genetic mechanism. A single-gene disorder (or monogenic disorder) is the result of a single mutated gene. This disorder is caused due to absence or excess or abnormal arrangement of one or more chromosome s. 2. This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. 2 Collectively, rare genetic disorders affect substantial numbers of … Nevertheless, as Victor McKusick showed through painstaking cataloging, this list of genetic disorders is neither small nor based on extensive genetic evidence ( McKusick 1998 ). 2019 May;11(3):e1443. When a certain gene is known to cause a disease, we refer to it as a single gene disorder or a Mendelian disorder. Ann Intern Med. PRINCIPLES OF MENDELIAN INHERITANCE. For example, only one in 2,500 people are born with cystic … These mutations are transmitted to the offspring. These disorders may or may not be inherited. This video is unavailable. Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. Paderova J, Drabova J, Holubova A, Vlckova M, Havlovicova M, Gregorova A, Pourova R, Romankova V, Moslerova V, Geryk J, Norambuena P, Krulisova V, Krepelova A, Macek M Sr, Macek M Jr. Eur J Med Genet. standing of mendelian genetic disorders is presented in Table 1. Unannotated ERs were first connected to known genes using junction reads (fig. These are all examples of single gene disorders. Epub 2014 Jan 3. As a rule, single gene disorders (also known as Mendelian traits or diseases) are relatively uncommon. Please enable it to take advantage of the complete set of features! Although each MDEM has a different causative gene, they exhibit several overlapping disease manifestations. This site needs JavaScript to work properly. ASST Lecco, UOC Neurology and Stroke Unit, Merate … These are diseases that can be inherited via a Mendelian genetic mechanism. We connect this unannotated transcription to known genes, confirming that human gene … Table 1 Year Event 1865 Mendel’s publication of the paper ‘Versuche u¨ber Pflanzen-Hybriden’ (Experiments in Plant Hybridization) 1900 Mendel’s work independently rediscovered by Correns, De Vries and Tschermak 1902 Garrod publishes his work on alkaptonuria and introduces Mendel’s concepts to human biology 1902 Sutton and Boveri … It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Although disorders resulting from single-gene defects that demonstrate Mendelian inheritance are perhaps better understood, it is now clear that a significant number of single-gene diseases also exhibit distinctly non-Mendelian patterns of inheritance. 2 0. The genetic disorders caused by a single genetic locus are referred to as Mendelian disorders. Continued efforts to develop therapies for mendelian disorders represent both an obligation and an opportunity. 2018 Nov 26;19(1):203. doi: 10.1186/s13059-018-1579-x. 2020 Aug;21(5):382-398. doi: 10.2174/1389202921999200630145241. At least 50% of patients with suspected Mendelian disorders remain undiagnosed after whole-exome sequencing (WES), and the extent to which non-coding variants that are not captured by WES contribute to this fraction is unclear. mendelian diseases tobin k dominic Slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. The Scope of Mendelian-Disease-Related Phenotypes. HHS Epub 2019 Apr 30. ... Mendelian mutations are the most medically actionable variants in the human genome and have always played a central role in its functional annotation. In addition, de novo variants were also identified for sporadic cases, which would have not been possible without exome sequencing. While the genetic basis of more than 5,000 Mendelian disorders has been determined so far, many more Mendelian disorders and their underlying genetic basis have yet to be discovered. Mendelian disorders, and then the complex disorders. Few examples of the Mendelian disorder in humans are. Nat Rev Genet. Genetics of pain: From rare Mendelian disorders to genetic predisposition to pain. a) Mendelian disorders are mainly determined by the alteration or mutation in the single gene. Scientists stumbled across the phenomenon when they began exploring more and more case studies; they soon realised that there are various types of non-Mendelian Inheritances. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. zhangxianning_at_zju.edu.cn ; Tel13105819271 88208367 ; Office A705, Research Building ; 2012/09; 2 Genotype The combination of alleles that an individual possesses. It has many subtypes. The most frequent Mendelian disorder • Heterozygotes, representing 1:500, have 2-3x elevation of cholesterol levels with xanthomas and premature atherosclerosis • Homozygotes develop extensive xanthomas, as well as coronary, cerebral and peripheral vascular disease at an early age, and may develop MI before the age of 20. Overall, the book has a clinical flavour and constantly refers to the practical clinical applications of information … With the advent of clinical exome sequencing, Mendelian disorders of the epigenetic machinery (MDEMs)—also known as chromatin modifying disorders—have emerged as one of the most rapidly expanding groups (1, 2).In 2014, we compiled a list of 34 conditions due to mutations in 28 genes ().By 2015, there were 44 such disorders (), and the list continues to expand.Here, we have taken a … Discovery of mutations for Mendelian disorders. Numerical disorders occur when there is a change in the number of chromosomes (more or fewer than 46). And for most of these disorders, one or two alleles is sufficient and enough to develop the disease. Since reannotation of genes already known to cause Mendelian disease would have a direct impact on clinical diagnostic pipelines, we specifically assessed this gene set. Integrating molecular networks with genetic variant interpretation for precision medicine. Non-classical … Nat Genet. examples: haemophilia, cystic fibrosis, sickle-cell anaemia, colour blindness, phenylketonuria, Thalesemia. Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I. J Hum Genet. Genomic imprinting and uniparental disomy, however, may affect inheritance patterns. The Mendelian Disorders of the Epigenetic Machinery (MDEMs) have emerged as a class of Mendelian disorders caused by loss-of-function variants in epigenetic regulators. Because multiple independently segregating genes make variable contributions to such … GRIPT: a novel case-control analysis method for Mendelian disease gene discovery. A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. 1. Department of Biological Sciences and Chemistry, College of Arts and Sciences, University of Nizwa, Nizwa, Oman. Title: Mendelian Disorders 1 Mendelian Disorders??? Mendelian disorders such as, for example, cystic fibrosis, sickle-cell anemia, Duchenne muscular dystrophy, Huntington's disease, each of them are quite rare in a population. One key difference between the clinical and research applications is that, in the latter, it is often possible to sequence several members of a pedigree and evaluate candidate variants using segregation and other genetic models. Mendelian disorders are genetic disorders determined by the alteration or mutation in the single gene. Watch Queue Queue. AR disorders form the largest category of Mendelian disorders. Marr D. Simons, in Diseases, Distribution, Epidemiology, and Control, 1985. a Inheritance. Here, we hypothesize that this phenotypic convergence is a consequence of common abnormalities at the … 2008 Jan;9(1):9-14 OMIM focuses on the relationship between phenotype and genotype. 1 author. There are more than 10,000 traits believed to be inherited in a Mendelian fashion, 1 but only a few of the more common disorders of interest to the obstetrician–gynecologist are highlighted in this chapter. 2014 Mar;8(1):42-57. doi: 10.1007/s11684-014-0303-9. Alkuraya FS(1)(2). Consanguineous. autosomal … It is not a substitute for professional medical advice, diagnosis or treatment. cxSVs in individuals with Mendelian disorders. standing of mendelian genetic disorders is presented in Table 1. OMIM — Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders; Genetic and Rare Diseases Information Center (GARD) Office of Rare Diseases (ORD), National Institutes of Health (NIH) CDC’s National Center on Birth Defects and Developmental Disabilities; Genetic Disease Information from the Human Genome Project; Global Genes Project, Genetic and Rare Diseases … -, Proc Natl Acad Sci U S A. TYPES OF MENDELIAN INHERITANCE. What are the different types of chromosome disorders? 39 Specifically, it is challenging to establish the number of Mendelian phenotypes that exist, to delineate new Mendelian phenotypes, to distinguish novel from known Mendelian phenotypes, to define what constitutes … The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. 2). NIH In the disease gene discovery efforts for rare Mendelian disorders, there has now been considerable experience with WES. 2010 May;11(5):380-4 For example, you may have heard of cystic fibrosis, sickle cell disease, Fragile X syndrome, muscular dystrophy, or Huntington disease. Over the past several years, more focus has been placed on dissecting the genetic basis of complex diseases and traits through genome-wide association studies. mendelian disorder: A popular term for any genetic disease which follows simple mendelian patterns of inheritance (e.g., autosomal recessive disorders, such as cystic fibrosis). Few examples of the Mendelian disorder in humans are Sickle cell anemia, color blindness, muscular dystrophy, Thalassemia, cystic fibrosis, skeletal dysplasia, hemophilia, and phenylketonuria are the most common Mendelian disorders. Human geneticists have long devoted their energies to understanding, diagnosing, and treating disorders that display a clear and Mendelian (i.e., single-gene) pattern of inheritance. Affiliations. A Journey through Genetic Architecture and Predisposition of Coronary Artery Disease. Individuals with a growing number of the so-called rare disorders exhibit unique, disorder-specific DNA methylation patterns, consequent to the underlying gene defects. The divisions between recessive and dominant types are not "hard and fast", although the divisions between autosomal and X-linkedtypes are (since the latter types are distinguished purely based on the chromosomal location of the gene). SIFT, POLYPHEN2 and CADD) you can quickly reduce the number of variants from … Examples of Mendelian Disorders. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. 1. FH: Defect of Receptor-Mediated Endocytosis. Abstract: Mendelian neurodevelopmental disorders customarily present with complex and overlapping symptoms, complicating the clinical diagnosis. Among these are such disorders that result from triplet repeat expansions within or near … It is a type of genetic disorder in humans primarily caused either due to abnormalities in the genome or changes in a single genome. 1 Epidemiologic studies show that if all congenital anomalies are considered as part of the genetic load, then approximately 8% of persons are identified as having a genetic disorder before reaching adulthood. Probably one of the most well-known numerical disorders is … It is updated daily, and the entries … Although exome sequencing has been proven to be a promising approach to study Mendelian disorders, several shortcomings of this method must be noted, such as the inability to capture regulatory or evolutionary conserved sequences in non-coding regions and the incomplete capturing of all exons. Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, with susceptibility to mycobacteria, such as the vaccine against tuberculosis (bacillus Calmette-Guérin (BCG) and environmental mycobacteria. Changes or mutations that occur in the DNA sequence of a single gene cause this type of inheritance. With this tool, you can quickly identify candidate variants of causing Mendelian disorders in your affected individuals. 5 years ago. Wiley Interdiscip Rev Syst Biol Med. Single-gene disorders have different patterns of genetic inheritance, including. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information. Exome sequencing has been swiftly applied to the discovery of new causal variants and candidate genes for a number of Mendelian disorders such as Kabuki syndrome, Miller syndrome and Fowler syndrome. So Mendelian disorders are monogenic one, disorders with a very strong genetic component. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (NICU and PICU) is not sufficiently timely to guide acute clinical management. National Center for Biotechnology Information, 17-alpha-hydroxylase/17,20-lyase deficiency, 17-beta-hydroxysteroid dehydrogenase X deficiency, 3-hydroxyacyl-coa dehydrogenase deficiency, 3-hydroxyisobutryl-CoA hydrolase deficiency, 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 46XY gonadal dysgenesis, complete or partial, with or without adrenal failure, 46XY gonadal dysgenesis, complete, CBS2-related, 46XY partial gonadal dysgenesis, with minifascicular neuropathy, Achalasia-Addisonianism-Alacrimia syndrome, Achondrogenesis-hypochondrogenesis type 2, Acromesomelic dysplasia, Hunter-Thompson type, Acyl-CoA dehydrogenase, long chain, deficiency of, Acyl-CoA dehydrogenase, medium chain, deficiency of, Acyl-CoA dehydrogenase, short chain, deficiency of, Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Adenosine triphosphate, elevated, of erythrocytes, Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency, Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, Adult i phenotype with congenital cataract, Agenesis of the corpus callosum with peripheral neuropathy, Alopecia, neurologic defects, and endocrinopathy syndrome, Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, Alpha-ketoglutarate dehydrogenase deficiency, Alpha-thalassemia myelodysplasia syndrome, somatic, Alpha-thalassemia mental retardation syndrome, Alveolar capillary dysplasia with misalignment of pulmonary veins, Alzheimer disease, late-onset, susceptibility to, Alzheimer disease, type 3, with spastic paraparesis and apraxia, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, Amelogenesis imperfecta, hypomaturation type, IIA3, Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism, Amelogenesis imperfecta, hypoplastic/hypomaturation type, Amyloidosis, hereditary, transthyretin-related, Amyotrophic lateral sclerosis 10, with or without FTD, Amyotrophic lateral sclerosis 4, juvenile, Amyotrophic lateral sclerosis 6, autosomal recessive, Amyotrophic lateral sclerosis, due to SOD1 deficiency, Androgen insensitivity, partial, with or without breast cancer, Anemia, congenital dyserythropoietic, type I, Anemia, dyserythropoietic congenital, type II, Anemia, hemolytic, due to UMPH1 deficiency, Anemia, hemolytic, Rh-null, regulator type, Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Antley–Bixler syndrome-like with disordered steroidogenesis, Aromatic L-amino acid decarboxylase deficiency, Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular dysplasia 2, Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia, familial, 10, Arrhythmogenic right ventricular dysplasia, familial, 11, Arrhythmogenic right ventricular dysplasia, familial, 12, Arrhythmogenic right ventricular dysplasia, familial, 5, Arrhythmogenic right ventricular dysplasia, familial, 9, Arterial calcification, generalized, of infancy, Arthrogryposis multiplex congenita, distal type 1, Arthrogryposis multiplex congenita, distal type 2B, Arthrogryposis, lethal, with anterior horn cell disease, Arthrogryposis, renal dysfunction, and cholestasis 1, Arthrogryposis, renal dysfunction, and cholestasis 2, Arthropathy, progressive pseudorheumatoid, of childhood, Ataxia with isolated vitamin E deficiency, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Atrial septal defect with atrioventricular conduction defects, Atrioventricular septal defect, partial, with heterotaxy syndrome, Auditory neuropathy, autosomal recessive, 1, Autoimmune disease, syndromic multisystem, Autoimmune lymphoproliferative syndrome, type IA, Autoimmune lymphoproliferative syndrome, type II, Autoimmune lymphoproliferative syndrome, type IIB, Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, Azoospermia due to perturbations of meiosis, Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Bare lymphocyte syndrome, type II, complementation group A, Bare lymphocyte syndrome, type II, complementation group C, Bare lymphocyte syndrome, type II, complementation group D, Bare lymphocyte syndrome, type II, complementation group E, BCG and salmonella infection, disseminated, Bernard–Soulier syndrome, benign autosomal dominant, Bietti crystalline corneoretinal dystrophy, Bifid nose with or without anorectal and renal anomalies, Bile acid synthesis defect, congenital, 2, Bile acid synthesis defect, congenital, 4, Birk–Barel mental retardation dysmorphism syndrome, Blepharophimosis, epicanthus inversus, and ptosis, type 1, Blepharophimosis, epicanthus inversus, and ptosis, type 2, Brain small vessel disease with Axenfeld-Rieger anomaly, Brain small vessel disease with hemorrhage, Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 2, Bronchiectasis with or without elevated sweat chloride 3, Campomelic dysplasia with autosomal sex reversal, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Candidiasis, familial chronic mucocutaneous, autosomal dominant, Candidiasis, familial chronic mucocutaneous, autosomal recessive, Capillary malformation-arteriovenous malformation, Carbamoyl phosphate synthetase I deficiency, Carbohydrate-deficient glycoprotein syndrome, type Ib, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cardiomyopathy, familial hypertrophic, 10, Cardiomyopathy, familial hypertrophic, 11, Cardiomyopathy, familial hypertrophic, 12, Cardiomyopathy, familial hypertrophic, 13, Cardiomyopathy, familial hypertrophic, 14, Cardiomyopathy, familial hypertrophic, 15, Cardiomyopathy, hypertrophic, midventricular, digenic, Cataract with late-onset corneal dystrophy, Cataract, autosomal dominant, multiple types 1, Cataract, congenital nuclear, autosomal recessive 3, Cataract, congenital zonular, with sutural opacities, Cataract, juvenile, with microcornea and glucosuria, Cataract, nonnuclear polymorphic congenital, Cataract, sutural, with punctate and cerulean opacities, Cavernous malformations of CNS and retina, Central hypoventilation syndrome, congenital, Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, Cerebral palsy, spastic, symmetric, autosomal recessive, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, Ceroid lipofuscinosis, neuronal 1, infantile, Ceroid-lipofuscinosis, neuronal 2, classic late infantile, Ceroid lipofuscinosis, neuronal 3, juvenile, Ceroid-lipofuscinosis, neuronal-5, variant late infantile, Ceroid-lipofuscinosis, neuronal-6, variant late infantile, Charcot–Marie–Tooth disease, axonal, type 2F, Charcot–Marie–Tooth disease, axonal, type 2K, Charcot–Marie–Tooth disease, axonal, type 2L, Charcot–Marie–Tooth disease, axonal, type 2M, Charcot–Marie–Tooth disease, axonal, type 2N, Charcot–Marie–Tooth disease, axonal, with vocal cord paresis, Charcot–Marie–Tooth disease, dominant intermediate 3, Charcot–Marie–Tooth disease, dominant intermediate B, Charcot–Marie–Tooth disease, dominant intermediate C, Charcot–Marie–Tooth disease, recessive intermediate, A, Charcot–Marie–Tooth disease, recessive intermediate, B, Charcot–Marie–Tooth disease, X-linked recessive, 5, Charcot–Marie–Tooth neuropathy, X-linked dominant, 1, Chloride diarrhea, congenital, Finnish type, Cholestasis, benign recurrent intrahepatic, 2, Cholestasis, benign recurrent intrahepatic, Cholestasis, familial intrahepatic, of pregnancy, Cholestasis, progressive familial intrahepatic 1, Cholestasis, progressive familial intrahepatic 2, Cholestasis, progressive familial intrahepatic 3, Cholestasis, progressive familial intrahepatic 4, Chondrodysplasia punctata, rhizomelic, type 2, Chondrodysplasia punctata, X-linked dominant, Chondrodysplasia punctata, X-linked recessive, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Chrondrodysplasia, acromesomelic, with genital anomalies, Chronic granulomatous disease due to deficiency of NCF-1, Chronic granulomatous disease due to deficiency of NCF-2, Chronic granulomatous disease, autosomal, due to deficiency of CYBA, Ciliary dyskinesia, primary, 1, with or without situs inversus, Ciliary dyskinesia, primary, 3, with or without situs inversus, Ciliary dyskinesia, primary, 7, with or without situs inversus, Ciliary dyskinesia, primary, 9, with or without situs inversus, Cirrhosis, North American Indian childhood type, Cleft lip/palate-ectodermal dysplasia syndrome, Cold-induced autoinflammatory syndrome, familial, Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, Colorectal cancer, hereditary nonpolyposis, type 1, Colorectal cancer, hereditary nonpolyposis, type 2, Colorectal cancer, hereditary nonpolyposis, type I, Combined cellular and humoral immune defects with granulomas, Combined immunodeficiency, X-linked, moderate, Combined oxidative phosphorylation deficiency 1, Combined oxidative phosphorylation deficiency 2, Combined oxidative phosphorylation deficiency 3, Combined oxidative phosphorylation deficiency 4, Combined oxidative phosphorylation deficiency 5, Combined oxidative phosphorylation deficiency 6, Complement component 4, partial deficiency of, Complex I, mitochondrial respiratory chain, deficiency of, Congenital bilateral absence of vas deferens, Congenital cataracts, facial dysmorphism, and neuropathy, Congenital disorder of glycosylation, type Ia, Congenital disorder of glycosylation, type Ic, Congenital disorder of glycosylation, type Id, Congenital disorder of glycosylation, type Ie, Congenital disorder of glycosylation, type If, Congenital disorder of glycosylation, type Ig, Congenital disorder of glycosylation, type Ih, Congenital disorder of glycosylation, type Ii, Congenital disorder of glycosylation, type IIA, Congenital disorder of glycosylation, type IIb, Congenital disorder of glycosylation type IIc, Congenital disorder of glycosylation, type IId, Congenital disorder of glycosylation, type IIe, Congenital disorder of glycosylation, type IIf, Congenital disorder of glycosylation, type IIg, Congenital disorder of glycosylation, type IIh, Congenital disorder of glycosylation, type IIj, Congenital disorder of glycosylation, type Ij, Congenital disorder of glycosylation, type Ik, Congenital disorder of glycosylation, type Il, Congenital disorder of glycosylation, type Im, Congenital disorder of glycosylation, type In, Congenital disorder of glycosylation, type Io, Congenital disorder of glycosylation, type Ip, Congenital heart defects, nonsyndromic, 1, X-linked, Congenital heart disease, nonsyndromic, 2, Convulsions, benign familial infantile, 3, COPD, rate of decline of lung function in, Corneal dystrophy polymorphous posterior, 2, Corneal dystrophy, crystalline, of Schnyder, Corneal dystrophy, epithelial basement membrane, Corneal dystrophy, hereditary polymorphous posterior, Corneal dystrophy, posterior polymorphous, 3, Corneal endothelial dystrophy and perceptive deafness, Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, Cortical dysplasia-focal epilepsy syndrome, Corticosteroid-binding globulin deficiency, Crouzon syndrome with acanthosis nigricans, Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities, Cutis laxa, autosomal recessive, type IIB, Cystinosis, late-onset juvenile or adolescent nephropathic, Deafness, autosomal dominant 11, neurosensory, Deafness, autosomal dominant 36, with dentinogenesis, Deafness, autosomal recessive 10, congenital, Deafness, autosomal recessive 2, neurosensory, Deafness, autosomal recessive 8, childhood onset, Deafness, congenital with inner ear agenesis, microtia, and microdontia, Deafness, sensorineural, with hypertrophic cardiomyopathy, Dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema, Dejerine–Sottas neuropathy, autosomal recessive, Dementia, frontotemporal, with or without parkinsonism, Dentinogenesis imperfecta, Shields type II, Dentinogenesis imperfecta, Shields type III, Diabetes mellitus, insulin-resistant, with acanthosis nigricans, Diabetes mellitus, neonatal, with congenital hypothyroidism, Diabetes mellitus, noninsulin-dependent, late onset, Diabetes mellitus, permanent neonatal, with cerebellar agenesis, Diabetes mellitus, permanent neonatal, with neurologic features, Diarrhea 3, secretory sodium, congenital, syndromic, Diarrhea 5, with tufting enteropathy, congenital, Diastrophic dysplasia, broad bone-platyspondylic variant, Dihydropyrimidine dehydrogenase deficiency, Dilated cardiomyopathy with woolly hair and keratoderma, Dyserythropoietic anemia with thrombocytopenia, Dyskeratosis congenita, autosomal dominant, Dyskeratosis congenita, autosomal recessive, Dyssegmental dysplasia, Silverman-Handmaker type, Dystonia, DOPA-responsive, with or without hyperphenylalainemia, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, Ectodermal dysplasia, anhidrotic, X-linked, Ectodermal dysplasia, ectrodactyly, and macular dystrophy, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive, Ectodermal dysplasia, hypohidrotic, with immune deficiency, Ectodermal dysplasia, 'pure' hair-nail type, Ectodermal dysplasia-skin fragility syndrome, Ectodermal dysplasia-syndactyly syndrome 1, Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, Ectopia lentis, isolated, autosomal recessive, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, Ehlers–Danlos due to tenascin X deficiency, Ehlers–Danlos syndrome, cardiac valvular form, Ehlers–Danlos syndrome, hypermobility type, Ehlers-Danlos syndrome, musculocontractural type, Emphysema-cirrhosis, due to AAT deficiency, Encephalocardiomyopathy, neonatal, mitochondrial, due to ATP synthase deficiency, Encephalopathy, familial, with neuroserpin inclusion bodies, Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex with pyloric atresia, Epidermolysis bullosa simplex, Dowling-Meara type, Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex, Weber-Cockayne type, Epidermolysis bullosa, generalized atrophic benign, Epidermolysis bullosa, junctional, Herlitz type, Epidermolysis bullosa, junctional, non-Herlitz type, Epidermolysis bullosa, junctional, with pyloric atresia, Epidermolysis bullosa, junctional, with pyloric stenosis, Epidermolysis bullosa, lethal acantholytic, Epilepsy, female-restricted, with mental retardation, Epilepsy, generalized, with febrile seizures plus, type 2, Epilepsy, generalized, with febrile seizures plus, type 3, Epilepsy, myoclonic, with mental retardation and spasticity, Epilepsy, neonatal myoclonic, with suppression-burst pattern, Epilepsy, partial, with auditory features, Epilepsy, X-linked, with variable learning disabilities and behavior disorders, Epileptic encephalopathy, early infantile, 1, Epileptic encephalopathy, early infantile, 2, Epileptic encephalopathy, early infantile, 4, Epileptic encephalopathy, early infantile, 5, Epileptic encephalopathy, Lennox-Gastaut type, Epiphyseal dysplasia, multiple, with myopia and deafness, Erythrokeratodermia variabilis et progressiva, Erythrokeratodermia variabilis with erythema gyratum repens, Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, Factor V and factor VIII, combined deficiency of, Factor XI deficiency, autosomal recessive, Familial cold autoinflammatory syndrome 2, Fetal hemoglobin quantitative trait locus 1, Fibrosis of extraocular muscles, congenital, 1, Fibrosis of extraocular muscles, congenital, 2, Fibrosis of extraocular muscles, congenital, 3A, Fibrosis of extraocular muscles, congenital, 3B, Fibular hypoplasia and complex brachydactyly, Focal cortical dysplasia, Taylor balloon cell type, Follicle-stimulating hormone deficiency, isolated, Foveomacular dystrophy, adult-onset, with choroidal neovascularization, Friedreich's ataxia with retained reflexes, Frontotemporal lobar degeneration with ubiquitin-positive inclusions, Frontotemporal lobar degeneration, TARDBP-related, Gaze palsy, horizontal, with progressive scoliosis, Generalized epilepsy and paroxysmal dyskinesia, Generalized epilepsy with febrile seizures plus, Glaucoma 1A, primary open angle, juvenile-onset, Glaucoma 1B, primary open angle, adult onset, Glaucoma, primary open angle, adult-onset, Glaucoma, primary open angle, juvenile-onset, Glomerulocystic kidney disease with hyperuricemia and isosthenuria, Glomerulopathy with fibronectin deposits 2, Glucocorticoid deficiency, due to ACTH unresponsiveness, Glutamate formiminotransferase deficiency, Glycogen storage disease of heart, lethal congenital, Growth hormone deficiency with pituitary anomalies, Growth hormone deficiency, isolated, type IA, Growth hormone deficiency, isolated, type IB, Growth hormone deficiency, isolated, type II, Growth hormone insensitivity with immunodeficiency, Growth retardation with deafness and mental retardation due to IGF1 deficiency, Growth retardation, developmental delay, coarse facies, and early death, Gyrate atrophy of choroid and retina with or without ornithinemia, Hearing loss, low-frequency sensorineural, Hemolytic anemia due to adenylate kinase deficiency, Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, Hemolytic anemia due to glutathione synthetase deficiency, Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Hemolytic uremic syndrome, atypical, susceptibility to, 1, Hemophagocytic lymphohistiocytosis, familial, 2, Hemophagocytic lymphohistiocytosis, familial, 3, Hemophagocytic lymphohistiocytosis, familial, 4, Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh, Hemosiderosis, systemic, due to aceruloplasminemia, Hennekam lymphangiectasia-lymphedema syndrome, Hepatic venoocclusive disease with immunodeficiency, Hereditary motor and sensory neuropathy VI, Hereditary motor and sensory neuropathy, type IIc, Histiocytoma, angiomatoid fibrous, somatic, Homocystinuria, B6-responsive and nonresponsive types, Homocystinuria-megaloblastic anemia, cbl E type, Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, Hydrocephalus with Hirschsprung disease and cleft palate, Hyperbilirubinemia, familial transcient neonatal, Hypercarotenemia and vitamin A deficiency, autosomal dominant, Hypercholesterolemia, due to ligand-defective apo B, Hypercholesterolemia, familial, autosomal recessive, Hypercholesterolemia, familial, modification of, Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Hyperfibrinolysis, familial, due to increased release of PLAT, Hyper-IgE recurrent infection syndrome, autosomal recessive, Hyperinsulinemic hypoglycemia, familial, 1, Hyperinsulinemic hypoglycemia, familial, 2, Hyperinsulinemic hypoglycemia, familial, 3, Hyperinsulinemic hypoglycemia, familial, 4, Hyperinsulinemic hypoglycemia, familial, 5, Hyperinsulinemic hypoglycemia, familial, 7, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism, Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, Hypertrophic osteoarthropathy, primary, autosomal recessive, Hyperuricemic nephropathy, familial juvenile 1, Hyperuricemic nephropathy, familial juvenile 2, Hypoaldosteronism, congenital, due to CMO I deficiency, Hypoaldosteronism, congenital, due to CMO II deficiency, Hypoglycemia of infancy, leucine-sensitive, Hypogonadotropic hypogonadism due to GNRH deficiency, Hypomagnesemia with secondary hypocalcemia, Hypomagnesemia, renal, with ocular involvement, Hypoparathyroidism, sensorineural deafness, and renal dysplasia, Hypoparathyroidism-retardation-dysmorphism syndrome, Hypophosphatemic rickets with hypercalciuria, Hypophosphatemic rickets, autosomal dominant, Hypophosphatemic rickets, autosomal recessive, 2, Hypothryoidism, congenital, nongoitrous 4, Hypothyroidism, congenital nongoitrous, 5, Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, Hypotrichosis and recurrent skin vesicles, Hypotrichosis, congenital, with juvenile macular dystrophy, Hypotrichosis, hereditary, Marie Unna type, 1, Hypotrichosis, localized, autosomal recessive 2, Hypotrichosis, localized, autosomal recessive, 3, Hypotrichosis, localized, autosomal recessive, Hypotrichosis-lymphedema-telangiectasia syndrome, Ichthyosiform erythroderma, congenital, nonbullous, 1, Ichthyosis follicularis, atrichia, and photophobia syndrome, Ichthyosis histrix, Curth-Macklin Palmoplantar keratoderma, nonepidermolytic, Ichthyosis, congenital, autosomal recessive, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Ichthyosis, lamellar, autosomal recessive, Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, Immune dysfunction with T-cell inactivation due to calcium entry defect 1, Immune dysfunction, with T-cell inactivation due to calcium entry defect 2, Immunodeficiency due to defect in CD3-zeta, Immunodeficiency due to defect in MAPBP-interacting protein, Immunodeficiency due to purine nucleoside phosphorylase deficiency, Immunodeficiency, hypogammaglobulinemia, and reduced B cells, Immunodeficiency, X-linked, with hyper-IgM, Immunodeficiency–centromeric instability–facial anomalies syndrome, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia, Inclusion body myopathy, autosomal recessive, Insensitivity to pain, channelopathy-associated, Insensitivity to pain, congenital, with anhidrosis, Insulin-like growth factor I, resistance to, Interleukin 1 receptor antagonist deficiency, Interleukin-2 receptor, alpha chain, deficiency of, Invasive pneumococcal disease, recurrent isolated, 1, Isobutyryl-coenzyme A dehydrogenase deficiency, Juvenile polyposis syndrome, infantile form, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Keratosis follicularis spinulosa decalvans, Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, Klippel–Feil syndrome, autosomal dominant, Left ventricular noncompaction 1, with or without congenital heart defects, Left ventricular noncompaction 3, with or without dilated cardiomyopathy, Leigh syndrome due to cytochrome c oxidase deficiency, Leigh syndrome due to mitochondrial complex I deficiency, Leiomyomatosis, diffuse, with Alport syndrome, Lethal congenital contractural syndrome 2, Lethal congenital contractural syndrome 3, Leukemia, megakaryoblastic, of Down syndrome, Leukemia, megakaryoblastic, with or without Down syndrome, Leukodystrophy, adult-onset, autosomal dominant, Leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia, Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, Leukoencephalopathy with vanishing white matter, Leukoencephalopathy, cystic, without megalencephaly, Leukoencephaly with vanishing white matter, Leydig cell adenoma, somatic, with precocious puberty, Leydig cell hypoplasia with hypergonadotropic hypogonadism, Leydig cell hypoplasia with pseudohermaphroditism, Lipodystrophy, congenital generalized, type 1, Lipodystrophy, congenital generalized, type 2, Lipodystrophy, congenital generalized, type 3, Lipodystrophy, congenital generalized, type 4, Lissencephaly syndrome, Norman–Roberts type, Lymphedema–distichiasis syndrome with renal disease and diabetes mellitus, Lymphoproliferative syndrome, EBV-associated, autosomal, 1, Lymphoproliferative syndrome, X-linked, 2, Macrocephaly, alopecia, cutis laxa, and scoliosis, Macrocytic anemia, refractory, due to 5q deletion, somatic, Macrothrombocytopenia and progressive sensorineural deafness, Macrothrombocytopenia, autosomal dominant, TUBB1-related, Macular dystrophy, autosomal dominant, chromosome 6-linked, Male infertility with large-headed, multiflagellar, polyploid spermatozoa, Male infertility, nonsyndromic, autosomal recessive, Mandibuloacral dysplasia with type B lipodystrophy, Maturity-onset diabetes of the young, type 10, Maturity-onset diabetes of the young, type 11, Maturity-onset diabetes of the young, type IX, Maturity-onset diabetes of the young, type VII, Maturity-onset diabetes of the young, type VIII, Megalencephalic leukoencephalopathy with subcortical cysts, Melanoma and neural system tumor syndrome, Membranoproliferative glomerulonephritis with CFH deficiency, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, Mental retardation in cri-du-chat syndrome, Mental retardation syndrome, X-linked, Cabezas type, Mental retardation syndrome, X-linked, Siderius type, Mental retardation, autosomal recessive 1, Mental retardation, autosomal recessive 13, Mental retardation, autosomal recessive 2A, Mental retardation, autosomal recessive 3, Mental retardation, autosomal recessive 7, Mental retardation, autosomal recessive, 6, Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities, Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, Mental retardation, X-linked 17/31, microduplication, Mental retardation, X-linked nonspecific, 63, Mental retardation, X-linked nonspecific, type 46, Mental retardation, X-linked syndromic 10, Mental retardation, X-linked syndromic, Christianson type, Mental retardation, X-linked syndromic, Turner type, Mental retardation, X-linked, Snyder-Robinson type, Mental retardation, X-linked, syndromic 13, Mental retardation, X-linked, syndromic 14, Mental retardation, X-linked, syndromic, JARID1C-related, Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, Mental retardation, X-linked, with epilepsy, Mental retardation, X-linked, with isolated growth hormone deficiency, Mental retardation, X-linked, with or without epilepsy, Mental retardation, X-linked, ZDHHC9-related, Mental retardation-hypotonic facies syndrome, X-linked, 2, Mental retardation-hypotonic facies syndrome, X-linked, Metachromatic leukodystrophy due to SAP-b deficiency, Metaphyseal chondrodysplasia, Murk Jansen type, Metaphyseal dysplasia without hypotrichosis, Methionine adenosyltransferase deficiency, autosomal recessive, Methylmalonic aciduria and homocystinuria, cblC type, Methylmalonic aciduria and homocystinuria, cblD type, Methylmalonic aciduria and homocystinuria, cblF type, Methylmalonic aciduria due to transcobalamin receptor defect, Methylmalonic aciduria, cblD type, variant 2, Methylmalonic aciduria, vitamin B12-responsive, Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MHC class II deficiency, complementation group B, Micochondrial phosphate carrier deficiency, Microcephalic osteodysplastic primordial dwarfism type II, Microcephaly and digital abnormalities with normal intelligence, Microcephaly, primary autosomal recessive, 2, Microcephaly, primary autosomal recessive, 3, Microcephaly, primary autosomal recessive, 4, Microcephaly, primary autosomal recessive, 5, with or without simplified gyral pattern, Microcephaly, primary autosomal recessive, 6, Microcephaly, primary autosomal recessive, 7, Microcephaly, seizures, and developmental delaty, Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Microphthalmia, isolated, with cataract 2, Microphthalmia, isolated, with cataract 4, Microphthalmia, isolated, with coloboma 3, Microphthalmia, isolated, with coloboma 5, Microtia, hearing impairment, and cleft palate, Minicore myopathy with external ophthalmoplegia, Mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria, Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy, Mitochondrial DNA depletion syndrome, hepatocerebral form, Mitochondrial DNA depletion syndrome, myopathic form, Mitochondrial DNA-depletion syndrome, hepatocerebral form, Mitochondrial myopathy and sideroblastic anemia, Mitochondrial neurogastrointestinal encephalomyopathy syndrome, Mitochondrial respiratory chain complex II deficiency, Multiple cutaneous and uterine leiomyomata, Muscular dystrophy with epidermolysis bullosa simplex, Muscular dystrophy, congenital merosin-deficient, Muscular dystrophy, congenital, due to ITGA7 deficiency, Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, Myasthenic syndrome, congenital, associated with episodic apnea, Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, Myasthenic syndrome, fast-channel congenital, Myasthenic syndrome, slow-channel congenital, Mycobacterial infection, atypical, familial disseminated, Myeloproliferative disorder with eosinophilia, Myoglobinuria, acute recurrent, autosomal recessive, Myopathy with lactic acidosis, hereditary, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, cardioskeletal, desmin-related, with cataract, Myopathy, centronuclear, autosomal recessive, Myopathy, congenital, with fiber-type disproportion 1, Myopathy, distal, with anterior tibial onset, Myopathy, early-onset, with fatal cardiomyopathy, Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, Myopathy, myofibrillar, filamin C-related, Myopathy, proximal, with early respiratory muscle involvement, Myopathy, reducing body, X-linked, childhood-onset, Myopathy, reducing body, X-linked, severe early-onset, Myopathy, X-linked, with postural muscle atrophy, Myotonia congenita, atypical, acetazolamide-responsive, Nephrogenic syndrome of inappropriate antidiuresis, Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Nephrolithiasis/osteoporosis, hypophosphatemic, 2, Nephropathy with pretibial epidermolysis bullosa and deafness, Nephrosis, congenital, with or without ocular abnormalities, Neurodegeneration due to cerebral folate transport deficiency, Neurodegeneration with brain iron accumulation 1, Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation 3, Neuromuscular disease, congenital, with uniform type 1 fiber, Neuronopathy, distal hereditary motor, type IIC, Neuronopathy, distal hereditary motor, type VI, Neuropathy, congenital hypomyelinating, 1, Neuropathy, distal hereditary motor, type IIA, Neuropathy, distal hereditary motor, type IIB, Neuropathy, distal hereditary motor, type V, Neuropathy, distal hereditary motor, type VIIB, Neuropathy, hereditary sensory and autonomic, type 1, Neuropathy, hereditary sensory and autonomic, type II, Neuropathy, hereditary sensory and autonomic, type IIB, Neuropathy, hereditary sensory and autonomic, type V, Neuropathy, hereditary sensory, with spastic paraplegia, Neuropathy, hereditary sensory/autonomic, type IC, Neuropathy, recurrent, with pressure palsies, Neutral lipid storage disease with myopathy, Neutropenia, nonimmune chronic idiopathic, of adults, Neutropenia, severe congenital, autosomal dominant 1, Neutropenia, severe congenital, autosomal dominant 2, Neutropenia, severe congenital, autosomal recessive 3, Neutropenia, severe congenital, autosomal recessive 4, Nevus, epidermal, epidermolytic hyperkeratotic type, Night blindness, congenital stationary, autosomal dominant 2, Night blindness, congenital stationary, autosomal dominant 3, Night blindness, congenital stationary, type 1, Night blindness, congenital stationary, type 1B, Night blindness, congenital stationary, type 2B, Night blindness, congenital stationary, type IC, Night blindness, congenital stationary, X-linked, type 2A, Night blindness, congenital stationary, autosomal dominant 1, Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Noonan-like syndrome with loose anagen hair, Obesity with impaired prohormone processing, Obesity, adrenal insufficiency, and red hair due to POMC deficiency, Ocular albinism, type I, Nettleship-Falls type, Oculodentodigital dysplasia, autosomal recessive, Optic nerve hypoplasia and abnormalities of the central nervous system, Ossification of posterior longitudinal ligament of spine, Osteoarthritis with mild chondrodysplasia, Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Osteopathia striata with cranial sclerosis, Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, Pachyonychia congenita Jackson Lawler type, Pachyonychia congenita, Jadassohn-Lewandowsky type, Palmoplantar hyperkeratosis and true hermaphroditism, Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, Palmoplantar keratoderma, nonepidermolytic, Palmoplantar keratoderma, nonepidermolytic, focal, Paraganglioma and gastric stromal sarcoma, Paragangliomas, familial nonchromaffin, 1, with or without deafness, Paragangliomas, familial nonchromaffin, 3, Parietal foramina with cleidocranial dysplasia, Parkinson disease 15, autosomal recessive, Parkinson disease 7, autosomal recessive early-onset, Paroxysmal nocturnal hemoglobinuria, somatic, Periventricular heterotopia with microcephaly, Persistent Mullerian duct syndrome, type I, Persistent Mullerian duct syndrome, type II, Phosphoglycerate dehydrogenase deficiency, Phosphoribosylpyrophosphate synthetase superactivity, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, Phosphoserine aminotransferase deficiency, Pigmented adrenocortical disease, primary, 1, Pigmented nodular adrenocortical disease, primary, 2, Pigmented paravenous chorioretinal atrophy, Pituitary adenoma, growth hormone-secreting, Pituitary hormone deficiency, combined, 1, Pituitary hormone deficiency, combined, 2, Pituitary hormone deficiency, combined, 3, Pituitary hormone deficiency, combined, 4, Pituitary hormone deficiency, combined, 5, Platelet disorder, familial, with associated myeloid malignancy, Polyhydramnios, megalencephaly, and symptomatic epilepsy, Polymicrogyria with optic nerve hypoplasia, Porokeratosis, disseminated superficial actinic, 1, Porphyria, acute intermittent, nonerythroid variant, Premature chromosome condensation with microcephaly and mental retardation, Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, Progressive external ophthalmoplegia, autosomal dominant, with or without hypogonadism, Progressive external ophthalmoplegia, autosomal recessive, Progressive familial heart block, type IB, Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, Prostate cancer, progression and metastasis of, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, Protoporphyria, erythropoietic, autosomal dominant, Protoporphyria, erythropoietic, autosomal recessive, Protoporphyria, erythropoietic, X-linked dominant, Pseudohermaphroditism, male, with gynecomastia, Pseudohypoaldosteronism type I, autosomal dominant, Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, Pulmonary hypertension, primary, fenfluramine-associated, Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Pyridoxamine 5'-phosphate oxidase deficiency, Pyruvate dehydrogenase phosphatase deficiency, Radioulnar synostosis with amegakaryocytic thrombocytopenia, Renal cell carcinoma, clear cell, somatic, Renal cell carcinoma, papillary, familial and sporadic, Renal tubular acidosis, distal, autosomal recessive, Renal tubular acidosis, proximal, with ocular abnormalities, Retinal degeneration, late-onset, autosomal dominant, Retinitis pigmentosa, juvenile, autosomal recessive, Retinitis pigmentosa, late-onset dominant, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, Retinitis pigmentosa-12, autosomal recessive, Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 3, Rickets due to defect in vitamin D 25-hydroxylation, Rolandic epilepsy, mental retardation, and speech dyspraxia, Saethre–Chotzen syndrome with eyelid anomalies, Sandhoff disease, infantile, juvenile, and adult forms, Scapuloperoneal myopathy, X-linked dominant, Scapuloperoneal syndrome, neurogenic, Kaeser type, Schinzel–Giedion midface retraction syndrome, Seborrhea-like dermatitis with psoriasiform elements, Sensorineural deafness with mild renal dysfunction, Severe combined immunodeficiency due to ADA deficiency, Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, Severe combined immunodeficiency, Athabascan type, Severe combined immunodeficiency, B cell-negative, Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Severe combined immunodeficiency, X-linked, Skeletal defects, genital hypoplasia, and mental retardation, Skin/hair/eye pigmentation 9, dark/light hair, Solitary median maxillary central incisor, Spastic paralysis, infantile onset ascending, Spinal and bulbar muscular atrophy of Kennedy, Spinal muscular atrophy, distal, autosomal recessive, 4, Spinal muscular atrophy, distal, X-linked 3, Spinal muscular atrophy, late-onset, Finkel type, Spinal muscular atrophy, X-linked 2, infantile, Spinocerebellar ataxia, autosomal recessive 5, Spinocerebellar ataxia, autosomal recessive 8, Spinocerebellar ataxia, autosomal recessive 9, Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, Spondylocostal dysostosis, autosomal recessive 2, Spondylocostal dysostosis, autosomal recessive 3, Spondylocostal dysostosis, autosomal recessive, 1, Spondylocostal dystostosis 4, autosomal dominant, Spondyloepimetaphyseal dysplasia, aggrecan type, Spondyloepimetaphyseal dysplasia, Missouri type, Spondyloepiphyseal dysplasia tarda with progressive arthropathy, Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia, Kimberley type, Spondylo-megaepiphyseal-metaphyseal dysplasia, Spondylometaepiphyseal dysplasia, short limb-hand type, Spondylometaphyseal dysplasia, Kozlowski type, Stapes ankylosis with broad thumb and toes, Startle disease/hyperekplexia, autosomal dominant, Stocco dos Santos X-linked mental retardation syndrome, Striatal degeneration, autosomal dominant, Stuve–Wiedemann syndrome/Schwartz–Jampel type 2 syndrome, Succinic semialdehyde dehydrogenase deficiency, Succinyl-CoA:3-oxoacid CoA transferase deficiency, Sucrase-isomaltase deficiency, congenital, Sudden infant death with dysgenesis of the testes syndrome, Surfactant metabolism dysfunction, pulmonary, 1, Surfactant metabolism dysfunction, pulmonary, 2, Surfactant metabolism dysfunction, pulmonary, 3, Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, T-cell immunodeficiency, congenital alopecia, and nail dystrophy, Thalassemia-beta, dominant inclusion-body, Thiamine-responsive megaloblastic anemia syndrome, Thrombocytopenia with beta-thalassemia, X-linked, Thrombocytopenia, congenital amegakaryocytic, Thrombophilia due to heparin cofactor II deficiency, Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency, autosomal recessive, Thrombophilia due to protein S deficiency, Thrombophilia, familial, due to decreased release of PLAT, Thrombophilia, X-linked, due to factor IX defect, Thrombotic thrombocytopenic purpura, familial, Thyroid hormone resistance, autosomal recessive, Thyroid hormone resistance, selective pituitary, Tooth agenesis, selective, 1, with or without orofacial cleft, Townes–Brocks branchiootorenal-like syndrome, Transposition of the great arteries, dextro-looped 1, Treacher Collins mandibulofacial dysostosis, Trichothiodystrophy, complementation group A, Triphalangeal thumb-polysyndactyly syndrome, Tumoral calcinosis, familial, normophosphatemic, Tumoral calcinosis, hyperphosphatemic, familial, Ulna and fibula, absence of, with severe limb deficiency, Vasculopathy, retinal, with cerebral leukodystrophy, VATER association with macrocephaly and ventriculomegaly, Venous malformations, multiple cutaneous and mucosal, Ventricular fibrillation, paroxysmal familial, 2, Ventricular tachycardia, catecholaminergic polymorphic, 1, Ventricular tachycardia, catecholaminergic polymorphic, 2, Vitamin K-dependent clotting factors, combined deficiency of, 2, Vitelliform macular dystrophy, adult-onset, von Hippel–Lindau disease, modification of, von Willebrand disease, autosomal dominant, von Willebrand disease, autosomal recessive, Waardenburg syndrome type 2E, with or without neurologic involvement, Waardenburg syndrome/ocular albinism, digenic, Wolfram-like syndrome, autosomal dominant, Woolly hair, autosomal recessive 2 with or without hypotrichosis, Xeroderma pigmentosum group E, DDB-negative subtype, Zellweger syndrome, complementation group G, https://www.ncbi.nlm.nih.gov/Omim/omimfaq.html#download, https://en.wikipedia.org/w/index.php?title=List_of_OMIM_disorder_codes&oldid=994051765, Short description is different from Wikidata, Creative Commons Attribution-ShareAlike License, This page was last edited on 13 December 2020, at 21:32. 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