30 relations: Allelic heterogeneity, Autosome, Caret, Comparative Toxicogenomics Database, DECIPHER, Ensembl, Gene, Genetic disorder, Genotype-phenotype distinction, HBB, Homo sapiens, Howard Hughes Medical Institute, Human genome, Informatics, Johns Hopkins School of Medicine, Johns Hopkins University, Locus (genetics), Medical classification, Mendelian inheritance, Mitochondrion, National Center for Biotechnology Information, National Human Genome Research Institute, Online Mendelian Inheritance in Animals, Phenotype, Phenotypic trait, Scholarly peer review, Sex linkage, Victor A. McKusick, World Wide Web, Y linkage.
Allelic heterogeneity is the phenomenon in which different mutations at the same locus cause a similar phenotype.
An autosome is a chromosome that is not an allosome (i.e., not a sex chromosome).
The caret is an inverted V-shaped grapheme.
The Comparative Toxicogenomics Database (CTD) is a public website and research tool that curates scientific data describing relationships between chemicals/drugs, genes/proteins, diseases, taxa, phenotypes, GO annotations, pathways, and interaction modules.
DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA.
Ensembl is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent completion of the Human Genome Project.
A gene is a locus (or region) of DNA that encodes a functional RNA or protein product, and is the molecular unit of heredity.
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital).
The genotype–phenotype distinction is drawn in genetics.
Beta globin (also referred to as HBB, β-globin, haemoglobin beta, hemoglobin beta, or preferably haemoglobin subunit beta) is a globin protein, which along with alpha globin (HBA), makes up the most common form of haemoglobin in adult humans, the HbA.
Homo sapiens (Latin: "wise man") is the binomial nomenclature (also known as the scientific name) for the human species.
The Howard Hughes Medical Institute (HHMI) is a United States non-profit medical research organization based in Chevy Chase, Maryland.
The human genome is the complete set of nucleic acid sequence for humans (Homo sapiens), encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
Informatics is the science of computer information systems.
The Johns Hopkins University School of Medicine (JHUSOM), located in Baltimore, Maryland, U.S., is the academic medical teaching and research arm of Johns Hopkins University.
The Johns Hopkins University (commonly referred to as Johns Hopkins, JHU, or simply Hopkins) is a private research university in Baltimore, Maryland.
A locus (plural loci) is the specific location or position of a gene, DNA sequence, on a chromosome, in the field of genetics.
Medical classification, or medical coding, is the process of transforming descriptions of medical diagnoses and procedures into universal medical code numbers.
Mendelian inheritance is inheritance of biological features that follows the laws proposed by Gregor Johann Mendel in 1865 and 1866 and re-discovered in 1900.
The mitochondrion (plural mitochondria) is a double membrane-bound organelle found in most eukaryotic cells.
The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health.
The National Human Genome Research Institute (NHGRI) is a division of the National Institutes of Health, located in Bethesda, Maryland.
Online Mendelian Inheritance in Animals (OMIA) is an online database of genes, inherited disorders and traits in more than 135 animal species.
A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, phenology, behavior, and products of behavior (such as a bird's nest).
A phenotypic trait, or simply trait, is a distinct variant of a phenotypic characteristic of an organism that may be inherited, be environmentally determined or be a combination of the two.
Scholarly peer review (also known as refereeing) is the process of subjecting an author's scholarly work, research, or ideas to the scrutiny of others who are experts in the same field, before a paper describing this work is published in a journal or as a book.
Sex linkage is the phenotypic expression of an allele related to the chromosomal sex of the individual.
Victor Almon McKusick (October 21, 1921 – July 22, 2008), an internist and medical geneticist, was the University Professor of Medical Genetics and Professor of Medicine at the Johns Hopkins Hospital, Baltimore, MD, USA.
The World Wide Web (www, W3) is an information space where documents and other web resources are identified by URLs, interlinked by hypertext links, and can be accessed via the Internet.
In mammals, Y-linkage, also known as holandric inheritance, is the determination of a phenotypic trait by an allele (or gene) on the Y chromosome.