OpsismodysplasiaCousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Fibrocystin: Fibrocystin is a large, =) receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium.Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Chromosome regionsIridogoniodysgenesis, dominant type: Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Infinite alleles model: The infinite alleles model is a mathematical model for calculating genetic mutations. The Japanese geneticist Motoo Kimura and American geneticist James F.Neuropathy, ataxia, and retinitis pigmentosaMissense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.Coles PhillipsIchthyosisEpicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..Nonsense mutation: In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product. It differs from a missense mutation, which is a point mutation where a single nucleotide is changed to cause substitution of a different amino acid.Symmetry element: A symmetry element is a point of reference about which symmetry operations can take place. In particular, symmetry elements can be centers of inversion, axes of rotation and mirror planes.Microcephaly lymphoedema chorioretinal dysplasia: Microcephaly lymphoedema chorioretinal dysplasia (MLCRD) is a genetic condition associated with:Alternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.Prelingual deafness: A prelingual deaf individual is someone who was born with a hearing loss, or whose hearing loss occurred before they began to speak. Infants usually start saying their first words around one year.Marie Unna hereditary hypotrichosis: Marie Unna hereditary hypotrichosis (also known as "Marie Unna hypotrichosis") is an autosomal dominant condition characterized by scalp hair that is sparse or absent at birth, with variable coarse, wiry hair regrowth in childhood, and potential loss again at puberty.Freedberg, et al.Frameshift mutation: A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original.Protein primary structure: The primary structure of a peptide or protein is the linear sequence of its amino acid structural units, and partly comprises its overall biomolecular structure. By convention, the primary structure of a protein is reported starting from the amino-terminal (N) end to the carboxyl-terminal (C) end.Hyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Genetic heterogeneity: Genetic heterogeneity is a phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele (locus) mutations.Turnpenny and Ellard, Emery's Elements of Medical Genetics, 13th Edition.Congenital ichthyosiform erythrodermaExome: The exome is the part of the genome formed by exons, the sequences which when transcribed remain within the mature RNA after introns are removed by RNA splicing. It consists of all DNA that is transcribed into mature RNA in cells of any type as distinct from the transcriptome, which is the RNA that has been transcribed only in a specific cell population.Aga Khan University Hospital, Karachi: The Aga Khan University Hospital (AKUH) in Karachi, established in 1985, is the primary teaching site of the Aga Khan University’s (AKU) Faculty of Health Sciences. Founded by His Highness the Aga Khan, the hospital provides a broad range of secondary and tertiary care, including diagnosis of disease and team management of patient care.Crandall syndrome: Crandall syndrome is a very rare congenital disorder characterised by progressive sensorineural hearing loss, hair loss associated with pili torti, and hypogonadism demonstrated through low levels of luteinising hormone and growth hormone. It is thought to be an autosomal recessive disorder closely related to Björnstad syndrome which presents similarly but without hypogonadism.Smith–Fineman–Myers syndrome: Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), is a rare X-linked recessive congenital disorder that causes birth defects. This syndrome was named after 3 men, Richard D.Microsatellite: A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 2–5 base pairs) are repeated, typically 5-50 times. Microsatellites occur at thousands of locations in the human genome and they are notable for their high mutation rate and high diversity in the population.Spondyloepiphyseal dysplasia congenitaAutosomal recessive cerebellar ataxia: Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs and symptoms of the disorder first appear in early to mid-adulthood.Harlequin-type ichthyosisPoint mutationDwarfism: Dwarf}}Hereditary Disease Foundation: The Hereditary Disease Foundation (HDF) aims to cure genetic disorders by supporting basic biomedical research.Help Cure Muscular Dystrophy: Help Cure Muscular Dystrophy is a distributed computing project that runs on the BOINC platform. It is a joint effort of the French muscular dystrophy charity, L'Association française contre les myopathies;French Muscular Dystrophy Association and L'Institut de biologie moléculaire et cellulaire (Molecular and Cellular Biology Institute).WGAViewer: WGAViewer is a bioinformatics software tool which is designed to visualize, annotate, and help interpret the results generated from a genome wide association study (GWAS). Alongside the P values of association, WGAViewer allows a researcher to visualize and consider other supporting evidence, such as the genomic context of the SNP, linkage disequilibrium (LD) with ungenotyped SNPs, gene expression database, and the evidence from other GWAS projects, when determining the potential importance of an individual SNP.HypochondrogenesisList of diseases (E): This is a list of diseases starting with the letter "E".Single-strand conformation polymorphism: Single-strand conformation polymorphism (SSCP), or single-strand chain polymorphism, is defined as conformational difference of single-stranded nucleotide sequences of identical length as induced by differences in the sequences under certain experimental conditions. This property allows sequences to be distinguished by means of gel electrophoresis, which separates fragments according to their different conformations.Gene polymorphismUniparental inheritance: Uniparental inheritance is a non-mendelian form of inheritance that consists of the transmission of genotypes from one parental type to all progeny. That is, all the genes in offspring will originate from only the mother or only the father.OsteopetrosisJournal of Inherited Metabolic Disease: The Journal of Inherited Metabolic Disease is a peer-reviewed medical journal covering inherited metabolic disorders. It was established in 1978 and is the official journal of the Society for the Study of Inborn Errors of Metabolism.DNA sequencer: A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine).National Arab American Medical Association: United StatesSuppressor mutation: A suppressor mutation is a second mutation that alleviates or reverts the phenotypic effects of an already existing mutation. Genetic suppression therefore restores the phenotype seen prior to the original background mutation.MyotoniaThermal cyclerCharcot–Marie–Tooth disease: Charcot disease}}Hearing (person): The term hearing or hearing person, from the perspective of mainstream English-language culture, refers to someone whose sense of hearing is at the medical norm. From this point of view, someone who is not fully hearing has a hearing loss or is said to be hard of hearing or deaf.Aplasia cutis congenita: (ILDS Q84.810)International Cooperative Ataxia Rating Scale: The International Cooperative Ataxia Rating Scale (ICARS) is an outcome measure that was created in 1997 by the Committee of the World Federation of Neurology with the goal of standardizing the quantification of impairment due to cerebellar ataxia. The scale is scored out of 100 with 19 items and 4 subscales of postural and gait disturbances, limb ataxia, dysarthria, and oculomotor disorders.Membrane protein: Membrane proteins are proteins that interact with biological membranes. They are one of the common types of protein along with soluble globular proteins, fibrous proteins, and disordered proteins.Acrofrontofacionasal dysostosis: Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip/palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia, and anomalies of foot structure.Ethyl methanesulfonateAnonychiaAcromelanism: Acromelanism is a genetically determined, temperature-dependent pigmentation pattern, with full expression only occurring on legs, ears, tail and face. Seen in Siamese and Himalayan cats, rats, and rabbits.Oculocutaneous albinism type I: Oculocutaneous Albinism Type I or –Type 1A (OCA1A) is an autosomal recessive skin disease associated with albinism. This type of albinism is caused when the gene OCA1 does not function properly.Jewish Community Council of Victoria: The Jewish Community Council of Victoria Inc (JCCV) is the peak representative body for Victorian Jewry, representing nearly 60 Jewish community organisations and over 52,000 Victorian Jews. The JCCV’s mission is to represent the Victorian Jewish community, the largest Jewish community in Australia, on all matters that affect its status, welfare and interests.Lenz microphthalmia syndrome: Lenz microphthalmia syndrome (or LMS) is a very rare inherited disorder characterized by abnormal smallness of one or both eyes (microphthalmos) sometimes with droopy eyelids (blepharoptosis), resulting in visual impairment or blindness. Eye problems may include coloboma, microcornea, and glaucoma.List of diseases (A): This is a list of diseases starting with the letter "A".SyndactylyDe Barsy syndrome: De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa (loose hanging skin) as well as other eye, musculoskeletal, and neurological abnormalities.Forward genetics: Forward genetics is the approach of determining the genetic basis responsible for a phenotype. This was initially done by generating mutants by using radiation, chemicals, or insertional mutagenesis (e.Joubert syndrome