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30 relations: Allelic heterogeneity, Autosome, Caret, Comparative Toxicogenomics Database, DECIPHER, Ensembl genome database project, 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
Allelic heterogeneity is the phenomenon in which different mutations at the same locus cause the same phenotype.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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Caret
The caret is an inverted V-shaped grapheme.
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Comparative Toxicogenomics Database
The Comparative Toxicogenomics Database (CTD) is a public website and research tool launched in November 2004 that curates scientific data describing relationships between chemicals/drugs, genes/proteins, diseases, taxa, phenotypes, GO annotations, pathways, and interaction modules.
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DECIPHER
DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA.
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Ensembl genome database project
Ensembl genome database project 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.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Genetic disorder
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
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Genotype–phenotype distinction
The genotype–phenotype distinction is drawn in genetics.
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HBB
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.
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Homo sapiens
Homo sapiens is the systematic name used in taxonomy (also known as binomial nomenclature) for the only extant human species.
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Howard Hughes Medical Institute
The Howard Hughes Medical Institute (HHMI) is an American non-profit medical research organization based in Chevy Chase, Maryland.
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Human genome
The human genome is the complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria.
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Informatics
Informatics is a branch of information engineering.
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Johns Hopkins School of Medicine
The Johns Hopkins University School of Medicine (JHUSOM), located in Baltimore, Maryland, U.S.A. (founded in 1893) is the academic medical teaching and research arm of the Johns Hopkins University, founded in 1876.
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Johns Hopkins University
Johns Hopkins University is an American private research university in Baltimore, Maryland.
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Locus (genetics)
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
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Medical classification
Medical classification, or medical coding, is the process of transforming descriptions of medical diagnoses and procedures into universal medical code numbers.
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Mendelian inheritance
Mendelian inheritance is a type of biological inheritance that follows the laws originally proposed by Gregor Mendel in 1865 and 1866 and re-discovered in 1900.
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Mitochondrion
The mitochondrion (plural mitochondria) is a double-membrane-bound organelle found in most eukaryotic organisms.
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National Center for Biotechnology Information
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 (NIH).
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National Human Genome Research Institute
NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988.
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Online Mendelian Inheritance in Animals
Online Mendelian Inheritance in Animals (OMIA) is an online database of genes, inherited disorders and traits in more than 135 animal species.
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Phenotype
A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).
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Phenotypic trait
A phenotypic trait, or simply trait, is a distinct variant of a phenotypic characteristic of an organism; it may be either inherited or determined environmentally, but typically occurs as a combination of the two.
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Scholarly peer review
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, conference proceedings or as a book.
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Sex linkage
Sex linkage is the phenotypic expression of an allele related to the allosome (sex chromosome) of the individual.
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Victor A. McKusick
Victor Almon McKusick (October 21, 1921 – July 22, 2008) was an American internist and medical geneticist, and Professor of Medicine at the Johns Hopkins Hospital, Baltimore.
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World Wide Web
The World Wide Web (abbreviated WWW or the Web) is an information space where documents and other web resources are identified by Uniform Resource Locators (URLs), interlinked by hypertext links, and accessible via the Internet.
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Y linkage
Y linkage, which can also be known as sex linkage or holandric inheritance, describes traits that are produced by genes located on the Y chromosome.
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Redirects here:
Mendelian Inheritance in Man, OMIM.
References
[1] https://en.wikipedia.org/wiki/Online_Mendelian_Inheritance_in_Man
