OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Keywords

OMIM : Online Mendelian Inheritance in Man, Biology, Phenotype, Genetics, Computational biology

References

• A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)Ali Belkhiri — 2011
• Definitions and Qualifiers in SNOMED CTRonald Cornet — 2009
• Mendelian inheritance in man: A catalog of human genes and genetic disordersJoan Naylor, Judith Benkendorf — 1996
• A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parentsKlaas J. Wierenga, Zhijie Jiang, Amy Yang — 2012
• Elements of Morphology: IntroductionJudith Allanson, Leslie G. Biesecker, John C. Carey — 2009
• Database resources of the National Center for Biotechnology Information: updateDavid Wheeler — 2004
• Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.Marc Singleton, Stephen L. Guthery, Karl V. Voelkerding — 2014
• Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseasesDamian Smedley, Sebastian Köhler, Johanna Christina Czeschik — 2014
• PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic FeaturesAda Hamosh, Nara Sobreira, Julie Hoover‐Fong — 2013
• ClinVar: public archive of relationships among sequence variation and human phenotypeMelissa Landrum, Jennifer M. Lee, George R. Riley — 2013
• The Unified Medical Language System (UMLS): integrating biomedical terminologyOlivier Bodenreider — 2004
• The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C. Doelken, Chris Mungall — 2013
• Forty years of SNOMED: a literature reviewRonald Cornet, Nicolette F. de Keizer — 2008
• Mendelian Inheritance in ManVictor A. McKusick — 1998
• BMC Medical Informatics and Decision MakingR. Cornet, N. D. Keizer

Cited by

• Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER智明 大久保, 幸子 木田, 大介 坂田 — 2015
• A functional module-based exploration between inflammation and cancer in esophagusFermín Marín Barriguete — 2015
• Rapid Communication: Cholesterol deficiency-associated APOB mutation impacts lipid metabolism in Holstein calves and breeding bulls.Josep M. Muntaner i Pasqual — 2016
• Sources of discordance among germ-line variant classifications in ClinVarОбухов Константин Николаевич, Шурманова Алина Марселевна — 2017
• Future of Rare Diseases Research 2017–2027: An IRDiRC PerspectiveLuisa Santamaría Suárez — 2017
• The role of the clinician in the multi-omics era: are you ready?Petr Sorfa — 2018
• VAReporter: variant reporter for cancer research of massive parallel sequencingStanley Saitowitz, Neil Kaye — 2018
• Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare VariantsПермякова Туйара Николаевна — 2018
• Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosisTamara Ćapeta — 2018
• Exomic and transcriptomic alterations of hereditary gingival fibromatosis.Ana de Castro — 2019
• Clinical-Pathological Conference Series from the Medical University of GrazElisabeth Fabian, Bruno Schneeweiß, Thomas Valentin — 2017
• GXD: a community resource of mouse Gene Expression DataConstance M. Smith, Jacqueline H. Finger, Terry F. Hayamizu — 2015
• The Disease Ontology: fostering interoperability between biological and clinical human disease-related dataLynn M. Schriml, Elvira Mitraka — 2015
• Principles for the organization of gene-setsWentian Li, Jan Freudenberg, Michaela Oswald — 2015
• Mechanical Properties and Failure of Biopolymers: Atomistic Reactions to Macroscale ResponseGang Seob Jung, Zhao Qin, Markus J. Buehler — 2015
• Might There Be a Link Between Intron 3 VNTR Polymorphism in the XRCC4 DNA Repair Gene and the Etiopathogenesis of Rheumatoid Arthritis?Sacide Pehlıvan, Sibel Oğuzkan Balcı, Ali Aydeniz — 2015
• The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseTudor Groza, Sebastian Köhler, Dawid Moldenhauer — 2015
• Genetische Untersuchungen in der ReproduktionsmedizinStephanie Kleinle, Udo Koehler, Gonzalez Fassreiner D — 2015
• Artrogriposis en un hospital de alta complejidad de Pereira, ColombiaValentina Hoyos Soto, Sebastián Camilo Castrillón Palacio, Inés Nathaly Ortiz Ortega — 2014
• The Genomic Birthday Paradox: How Much Is Enough?Peter Krawitz, Orion J. Buske, Na Zhu — 2015

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• The phenotypic signature of adaptation to thermal stress in Escherichia coliShaun M. Hug, Brandon S. Gaut — 2015
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• PhenoExam: gene set analyses through integration of different phenotype databasesAlejandro Cisterna, Aurora González-Vidal, Daniel Ruíz — 2022
• Coevolutionary dynamics of phenotypic diversity and contingent cooperationTe Wu, Long Wang, Feng Fu — 2017
• The external phenotype of aging.Raoul C. M. Hennekam — 2020
• A cross-genomic approach for systematic mapping of phenotypic traits to genes.Kam Jim, Kush M. Parmar, Mona Singh — 2003
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• Developmental mechanisms underlying variable, invariant and plastic phenotypesKatie Abley, James Locke, Ottoline Leyser — 2016