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Online Mendelian Inheritance in Man information


Online Mendelian Inheritance in Man
Content
DescriptionCatalog of all known human genes and genetic phenotypes.
Data types
captured
Genes, genetic disorders, phenotypic traits
OrganismsHomo sapiens
Contact
Research centerJohns Hopkins University School of Medicine
Primary citationPMID 21472891
Access
Websitehttp://www.omim.org/

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 28 June 2019, approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes.[1]

  1. ^ "OMIM Entry Statistics". Online Mendelian Inheritance in Man. Baltimore, MD: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. 2019. Retrieved 28 June 2019.

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Online Mendelian Inheritance in Man

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Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus...

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Online Mendelian Inheritance in Animals

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complementary to, Online Mendelian Inheritance in Man (OMIM). It aims to provide a publicly accessible catalogue of all animal phenes, excluding those in human and...

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Simple Mendelian genetics in humans

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(see: gene interactions, polygenic inheritance, oligogenic inheritance). OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of human...

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Mendelian traits in humans

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Mendelian traits in humans are human traits that are substantially influenced by Mendelian inheritance. Most – if not all – Mendelian traits are also...

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Hypercalcaemia

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2021. Online Mendelian Inheritance in Man (OMIM): 146200 Online Mendelian Inheritance in Man (OMIM): 145980 Online Mendelian Inheritance in Man (OMIM):...

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Hyperammonemia

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Online Mendelian Inheritance in Man (OMIM): 311250 - hyperammonemia due to ornithine transcarbamylase deficiency Online Mendelian Inheritance in Man (OMIM):...

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Gene Disease Database

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diseases such as the Comparative Toxicogenomics Database (CTD), Online Mendelian Inheritance in Man (OMIM), the genetic Association Database (GAD) or the Disease...

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Pontocerebellar hypoplasia

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[1] Online Mendelian Inheritance in Man (OMIM): 607596 Online Mendelian Inheritance in Man (OMIM): 614678 Online Mendelian Inheritance in Man (OMIM): 615851...

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Ohtahara syndrome

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PMID 17668384. Online Mendelian Inheritance in Man (OMIM): 300203 Online Mendelian Inheritance in Man (OMIM): 609302 Online Mendelian Inheritance in Man (OMIM):...

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Oligogenic inheritance

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Gland Secretion, Variation in". Online Mendelian Inheritance in Man. Johns Hopkins University. 117800. "Mendelian Traits in Humans" (PDF). Human Genetics...

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Cutis laxa

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- 123700 Online Mendelian Inheritance in Man (OMIM): Cutis Laxa, Autosomal Recessive, Type II - 219200 Online Mendelian Inheritance in Man (OMIM): Cutis...

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Human genetics

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Variation in". Online Mendelian Inheritance in Man. Johns Hopkins University. 117800. Archived from the original on 30 April 2017. "Mendelian Traits in Humans"...

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Aniridia

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Inheritance in Man (OMIM): 106210 AN Online Mendelian Inheritance in Man (OMIM): 106220 Aniridia and absent patella Online Mendelian Inheritance in Man...

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Brachydactyly type D

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thumb" is the common term preferred by the online database Online Mendelian Inheritance in Man and was first used in a 1965 study. Stub thumbs have also been...

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Spinocerebellar ataxia

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In GeneReviews Online Mendelian Inheritance in Man (OMIM): Spinocerebellar Ataxia, Autosomal Recessive 1; SCAR1 - 606002 Online Mendelian Inheritance...

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Gregor Mendel

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established many of the rules of heredity, now referred to as the laws of Mendelian inheritance. Mendel worked with seven characteristics of pea plants: plant height...

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Kim Peek

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Man,' dies at 58". The New York Times. Retrieved January 8, 2010. Opitz JM, Smith JF, Santoro L (September 2008). "The FG syndromes (Online Mendelian...

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Thalassemia

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Pathology, Page No:428 Online Mendelian Inheritance in Man (OMIM): Hemoglobin—Alpha locus 1; HBA1 - 141800 Online Mendelian Inheritance in Man (OMIM): Hemoglobin—Alpha...

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Bullous pemphigoid

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2010-06-24.[permanent dead link] Online Mendelian Inheritance in Man (OMIM): DYSTONIN; DST - 113810 Online Mendelian Inheritance in Man (OMIM): COLLAGEN, TYPE XVII...

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Kell antigen system

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1159/000152813. PMID 976995. Online Mendelian Inheritance in Man (OMIM): 110900 - OMIM entry for Kell protein Online Mendelian Inheritance in Man (OMIM): 314850 -...

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NUT carcinoma

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{{cite web}}: CS1 maint: numeric names: authors list (link) Online Mendelian Inheritance in Man (OMIM): 608963 International Agency for Research on Cancer...

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Hyperlipidemia

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Pharmacists Association. Archived from the original on 2011-09-27. Online Mendelian Inheritance in Man (OMIM): Apolipoprotein C-II Deficency - 207750 Yamamura T...

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Lactate dehydrogenase

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11p15.4 (Online Mendelian Inheritance in Man (OMIM): 150000). The H subunit is encoded by LDHB, located on chromosome 12p12.2-p12.1 (Online Mendelian Inheritance...

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Human Phenotype Ontology

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hereditary diseases. Data from Online Mendelian Inheritance in Man and medical literature were used to generate the terms currently in the HPO. The ontology contains...

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Genetic disorder

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Retrieved 2023-02-20. Public Health Genomics at CDC OMIM — Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders Genetic and...

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Tongue rolling

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Mendelian inheritance, and it is commonly referenced in introductory and genetic biology courses, although there is some disagreement. Prevalence in human...

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Orofaciodigital syndrome

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Retrieved 2015-03-02. Online Mendelian Inheritance in Man (OMIM): MOHR SYNDROME - 252100 Online Mendelian Inheritance in Man (OMIM): OROFACIODIGITAL...

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Ectrodactyly

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Media related to Ectrodactyly at Wikimedia Commons Online Mendelian Inheritance in Man (OMIM): 183600 Online Mendelian Inheritance in Man (OMIM): 183800...

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