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OMIM
ONLINE MENDELIAN INHERITANCE IN MAN (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits , with a particular focus on the gene-phenotype relationship . As of 12 February 2017 , approximately 8,425 of the over 23,000 entries in OMIM represented phenotypes ; the rest represented genes , many of which were related to known phenotypes. CONTENTS * 1 Versions and history * 2 Collection process and use * 3 MIM classification system * 3.1 MIM numbers * 3.2 Symbols preceding MIM numbers * 4 See also * 5 References * 6 External links VERSIONS AND HISTORYOMIM is the online continuation of Dr. Victor McKusick 's Mendelian Inheritance in Man (MIM), which was published in 12 editions between 1966 and 1998. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins University School of Medicine (JHUSOM)
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Y-linked
Y LINKAGE, which can also be known as sex linkage or holandric inheritance, affects traits that are located on the Y chromosome
Y chromosome
. Y linkage can be very hard to determine and prove. This is due in part because the Y chromosome
Y chromosome
is small and does not contain as many genes as autosomal genes or the X chromosome
X chromosome
. However, the Y chromosome
Y chromosome
is no longer considered to be as barren as it once was; it is estimated to contain about 200 genes. The Y-chromosome is sex determining in some species but not others, so not all genes that play a role in sex determination are Y-linked. The Y-chromosome for the most part does not undergo genetic recombination ; only small regions called the pseudoautosomal regions exhibit recombination. The majority of the Y-chromosome that does not recombine is called the "non-recombining region"
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Mitochondrial
1 Outer membrane 1.1 Porin 2 Intermembrane space 2.1 Intracristal space 2.2 Peripheral space3 Lamella 3.1 Inner membrane 3.11 Inner boundary membrane 3.12 Cristal membrane 3.2 Matrix 3.3 Cristæ 4 Mitochondrial DNA
Mitochondrial DNA
5 Matrix granule 6 Ribosome
Ribosome
7 ATP synthase
ATP synthase
The MITOCHONDRION (plural MITOCHONDRIA) is a double membrane -bound organelle found in all eukaryotic organisms. Some cells in some multicellular organisms may however lack them (for example, mature mammalian red blood cells ). A number of unicellular organisms, such as microsporidia , parabasalids , and diplomonads , have also reduced or transformed their mitochondria into other structures. To date, only one eukaryote, Monocercomonoides , is known to have completely lost its mitochondria
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X-linked
SEX LINKAGE is the phenotypic expression of an allele related to the allosome (sex chromosome) of the individual. In autosomal chromosomes both sexes have the same probability of existing (see Fisher\'s principle ), but since humans have many more genes on the female X chromosome than on the male Y chromosome
Y chromosome
, these are much more common than Y-linked traits. In mammals , the female is homogametic, with two X chromosomes (XX), while the male is the heterogametic sex , with one X and one Y chromosome (XY). Genes on the X or Y chromosome
Y chromosome
are called sex-linked. In ZW sex-determination system used by birds the opposite is true: the male is the homogametic sex (ZZ), and the female is heterogametic (ZW). X-linked recessive traits are expressed in all heterogametics, but are only expressed in those homogametics that are homozygous for the recessive allele
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Locus (genetics)
A LOCUS (plural LOCI) in genetics is the position on a chromosome . Each chromosome carries many genes; humans' estimated 'haploid ' protein coding genes are 19,000-20,000, on the 23 different chromosomes. A variant of the similar DNA sequence located at a given locus is called an allele . The ordered list of loci known for a particular genome is called a gene map . Gene mapping is the process of determining the locus for a particular biological trait . Diploid and polyploid cells whose chromosomes have the same allele of a given gene at some locus are called homozygous with respect to that gene, while those that have different alleles of a given gene at a locus, are called the heterozygous with respect to that gene
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National Human Genome Research Institute
The NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) is a division of the National Institutes of Health
National Institutes of Health
, located in Bethesda, Maryland
Bethesda, Maryland
. NHGRI began as the NATIONAL CENTER FOR HUMAN GENOME RESEARCH (NCHGR), which was established in 1989 to carry out the role of the NIH in the International Human Genome Project (HGP). The HGP was developed in collaboration with the United States Department of Energy
United States Department of Energy
(DOE) and began in 1990 to map the human genome . In 1993, NCHGR expanded its role on the NIH campus by establishing the Division of Intramural Research (DIR) to apply genome technologies to the study of specific diseases. In 1996, the Center for Inherited Disease Research (CIDR) was also established (co-funded by eight NIH institutes and centers) to study the genetic components of complex disorders
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Autosomal
An AUTOSOME is a chromosome that is not an allosome (a sex chromosome). An autosome is a pair of chromosomes in a diploid cell in which each chromosome has the same form. Allosomes, on the other hand, have different form and thereby determine sex. The DNA
DNA
in autosomes is collectively known as AT DNA
DNA
or AUDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters
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HBB
6HBW, 1A00, 1A01, 1A0U, 1A0Z, 1A3N, 1A3O, 1ABW, 1ABY, 1AJ9, 1B86, 1BAB, 1BBB, 1BIJ, 1BUW, 1BZ0, 1BZ1, 1BZZ, 1C7B, 1C7C, 1C7D, 1CBL, 1CBM, 1CH4, 1CLS, 1CMY, 1COH, 1DKE, 1DXT, 1DXU, 1DXV, 1FN3, 1G9V, 1GBU, 1GBV, 1GLI, 1GZX, 1HAB, 1HAC, 1HBA, 1HBB, 1HBS, 1HCO, 1HDB, 1HGA, 1HGB, 1HGC, 1HHO, 1IRD, 1J3Y, 1J3Z, 1J40, 1J41, 1J7S, 1J7W, 1J7Y, 1JY7, 1K0Y, 1K1K, 1KD2, 1LFL, 1LFQ, 1LFT, 1LFV, 1LFY, 1LFZ, 1LJW, 1M9P, 1MKO, 1NEJ, 1NIH, 1NQP, 1O1I, 1O1J, 1O1K, 1O1L, 1O1M, 1O1N, 1O1O, 1O1P, 1QI8, 1QSH, 1QSI, 1QXD, 1QXE, 1R1X, 1R1Y, 1RPS, 1RQ3, 1RQ4, 1RQA, 1RVW, 1SDK, 1SDL, 1THB, 1UIW, 1VWT, 1XXT, 1XY0, 1XYE, 1XZ2, 1XZ4, 1XZ5, 1XZ7, 1XZU, 1XZV, 1Y09, 1Y0A, 1Y0C, 1Y0D, 1Y0T, 1Y0W, 1Y22, 1Y2Z, 1Y31, 1Y35, 1Y45, 1Y46, 1Y4B, 1Y4F, 1Y4G, 1Y4P, 1Y4Q, 1Y4R, 1Y4V, 1Y5F, 1Y5J, 1Y5K, 1Y7C, 1Y7D, 1Y7G, 1Y7Z, 1Y83, 1Y85, 1Y8W, 1YDZ, 1YE0, 1YE1, 1YE2, 1YEN, 1YEO, 1YEQ, 1YEU, 1YEV, 1YFF, 1YG5, 1YGD, 1YGF, 1YH9, 1YHE, 1YHR, 1YIE, 1YIH, 1YVQ, 1YVT, 1YZI, 2D5Z, 2D60, 2DN1, 2DN2, 2DN3, 2DXM, 2H35, 2HBC, 2HBD, 2HB
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Caret
؋ ​₳ ​ ฿ ​₿ ​ ₵ ​¢ ​₡ ​₢ ​ $ ​₫ ​₯ ​֏ ​ ₠ ​€ ​ ƒ ​₣ ​ ₲ ​ ₴ ​ ₭ ​ ₺ ​₾ ​ ₼ ​ℳ ​₥ ​ ₦ ​ ₧ ​₱ ​₰ ​£ ​ 元 圆 圓 ​﷼ ​៛ ​₽ ​₹ ₨ ​ ₪ ​ ৳ ​₸ ​₮ ​ ₩ ​ ¥ 円 UNCOMMON TYPOGRAPHY asterism ⁂ hedera ❧ index, fist ☞ interrobang ‽ irony punctuation ⸮ lozenge ◊ tie ⁀ RELATED* * Diacritics * Logic symbols * Whitespace characters IN OTHER SCRIPTS * Chinese * Hebrew * Japanese * Korean * Category
Category
* Portal
Portal
* Book
Book
* v * t * e The CARET /ˈkærᵻt/ is an inverted V-shaped grapheme
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Digital Object Identifier
In computing, a DIGITAL OBJECT IDENTIFIER or DOI is a persistent identifier or handle used to uniquely identify objects, standardized by the International Organization for Standardization
International Organization for Standardization
( ISO
ISO
). An implementation of the Handle System , DOIs are in wide use mainly to identify academic, professional, and government information, such as journal articles, research reports and data sets, and official publications though they also have been used to identify other types of information resources, such as commercial videos. A DOI aims to be "resolvable", usually to some form of access to the information object to which the DOI refers. This is achieved by binding the DOI to metadata about the object, such as a URL , indicating where the object can be found
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Special
SPECIAL or SPECIALS may refer to: CONTENTS * 1 Music * 2 Film and television * 3 Other uses * 4 See also MUSIC * Special (album) , a 1992 album by Vesta Williams * "Special" (Garbage song) , 1998 * "Special" (Mew song) , 2005 * "Special" (Stephen Lynch song) , 2000 * The Specials
The Specials
, a British band * "Special", a song by Violent Femmes on The Blind Leading the Naked * "Special", a song on
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PubMed Central
PUBMED CENTRAL (PMC) is a free digital repository that archives publicly accessible full-text scholarly articles that have been published within the biomedical and life sciences journal literature. As one of the major research databases within the suite of resources that have been developed by the National Center for Biotechnology Information (NCBI), PubMed
PubMed
Central is much more than just a document repository. Submissions into PMC undergo an indexing and formatting procedure which results in enhanced metadata, medical ontology , and unique identifiers which all enrich the XML
XML
structured data for each article on deposit. Content within PMC can easily be interlinked to many other NCBI databases and accessed via Entrez
Entrez
search and retrieval systems, further enhancing the public's ability to freely discover, read and build upon this portfolio of biomedical knowledge
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Ensembl
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
Human Genome Project
. After 10 years in existence, Ensembl's aim remains to provide a centralized resource for geneticists, molecular biologists and other researchers studying the genomes of our own species and other vertebrates and model organisms . Ensembl
Ensembl
is one of several well known genome browsers for the retrieval of genomic information. Similar databases and browsers are found at NCBI and the University of California, Santa Cruz (UCSC)
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Mendelian Inheritance
MENDELIAN INHERITANCE is a type of biological inheritance that follows the laws originally proposed by Gregor Mendel
Gregor Mendel
in 1865 and 1866 and re-discovered in 1900. These laws were initially very controversial. When Mendel's theories were integrated with the Boveri–Sutton chromosome theory
Boveri–Sutton chromosome theory
of inheritance by Thomas Hunt Morgan in 1915, they became the core of classical genetics . Ronald Fisher later combined these ideas with the theory of natural selection in his 1930 book The Genetical Theory of Natural Selection , putting evolution onto a mathematical footing and forming the basis for population genetics and the modern evolutionary synthesis
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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. The diagnoses and procedures are usually taken from a variety of sources within the health care record, such as the transcription of the physician's notes, laboratory results, radiologic results, and other sources. Diagnosis codes track diseases and other health conditions, inclusive of chronic diseases such as diabetes mellitus and heart disease , and infectious diseases such as norovirus , the flu , and athlete\'s foot . Procedure codes track interventions performed
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Johns Hopkins University
Urban Maryland: * Baltimore
Baltimore
(Main) * Laurel * Columbia * Montgomery County Washington, D.C.
Washington, D.C.
Bologna <
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