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ready Human Phenotype Ontology

Abbreviation: HP

General Information
The Human Phenotype Ontology has been developed to provide a structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other disease. The goal is to provide resource for the computational analysis of the human phenome, with a focus on monogenic diseases listed in the Online Mendelian Inheritance in Man (OMIM) and Orphanet databases, for which annotations are also provided.

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How to cite this record HP; Human Phenotype Ontology; DOI:; Last edited: July 9, 2019, 10:37 a.m.; Last accessed: Jan 24 2022 10:27 a.m.

Publication for citation  The Human Phenotype Ontology in 2017. Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.; Nucleic Acids Res. ; 2017;;

This record is maintained by drseb  ORCID  and skoeher

Record updated: June 26, 2019, 11:52 a.m. by The FAIRsharing Team.

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Kohler S,Doelken SC,Mungall CJ,Bauer S,Firth HV,Bailleul-Forestier I,Black GC,Brown DL,Brudno M,Campbell J,FitzPatrick DR,Eppig JT,Jackson AP,Freson K,Girdea M,Helbig I,Hurst JA,Jahn J,Jackson LG,Kelly AM,Ledbetter DH,Mansour S,Martin CL,Moss C,Mumford A,Ouwehand WH,Park SM,Riggs ER,Scott RH,Sisodiya S,Van Vooren S,Wapner RJ,Wilkie AO,Wright CF,Vulto-van Silfhout AT,de Leeuw N,de Vries BB,Washingthon NL,Smith CL,Westerfield M,Schofield P,Ruef BJ,Gkoutos GV,Haendel M,Smedley D,Lewis SE,Robinson PN
Nucleic Acids Res 2013

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The Human Phenotype Ontology in 2017.

Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN.
Nucleic Acids Res. 2017

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The human phenotype ontology.

Robinson PN,Mundlos S
Clin Genet 2010

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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Kohler S,Carmody L,Vasilevsky N,Jacobsen JOB,Danis D,Gourdine JP,Gargano M,Harris NL,Matentzoglu N,McMurry JA,Osumi-Sutherland D,Cipriani V,Balhoff JP,Conlin T,Blau H,Baynam G,Palmer R,Gratian D,Dawkins H,Segal M,Jansen AC,Muaz A,Chang WH,Bergerson J,Laulederkind SJF,Yuksel Z,Beltran S,Freeman AF,Sergouniotis PI,Durkin D,Storm AL,Hanauer M,Brudno M,Bello SM,Sincan M,Rageth K,Wheeler MT,Oegema R,Lourghi H,Della Rocca MG,Thompson R,Castellanos F,Priest J,Cunningham-Rundles C,Hegde A,Lovering RC,Hajek C,Olry A,Notarangelo L,Similuk M,Zhang XA,Gomez-Andres D,Lochmuller H,Dollfus H,Rosenzweig S,Marwaha S,Rath A,Sullivan K,Smith C,Milner JD,Leroux D,Boerkoel CF,Klion A,Carter MC,Groza T,Smedley D,Haendel MA,Mungall C,Robinson PN
Nucleic Acids Res 2018

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The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Robinson PN,Kohler S,Bauer S,Seelow D,Horn D,Mundlos S
Am J Hum Genet 2008

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Grant Number(s)

  • 01DH12033 (The Federal Ministry of Education and Research (BMBF))

  • 01GM1608 (E-RARE project Hipbi-RD)

  • 1OT3TR002019 (National Center for Advancing Translational Sciences (NCATS), Bethesda, MD, USA)

  • 2012-305121 (NeurOmics)

  • 2012-305608 (EURenOmics)

  • 305444 (RD-Connect)

  • 5R24OD011883 (The Monarch Initiative)

  • 602300 (European Community Seventh Framework Programme)

  • 779257 (European Union's Horizon 2020 Research and Innovation Programme)

  • BMBF project number 0313911 (Federal Ministry of Education and Research (BMBF), Berlin, Germany)

  • CA221044-01 (Forums for Integrative Phenomics, NIH)

  • DE-AC02-05CH11231 (U.S. Department of Energy)

  • DFG RO 2005/4-2 (The Deutsche Forschungsgemeinschaft)

  • HE5415/3-1 (German research foundation)

  • HE5415/5-1 (German research foundation)

  • HE5415/6-1 (German research foundation)

  • MAR 10/012 (Federal Ministry of Education and Research (BMBF), Berlin, Germany)

  • OT3 OD02464-01 UNCCH (NIH Data Commons)

  • R44 LM011585-02 (National Library of Medicine (NLM), Bethesda, MD, USA)

  • RG/13/5/30112 (British Heart Foundation Programme Grant)

  • U24 TR002306 (National Center for Advancing Translational Sciences (NCATS), Bethesda, MD, USA)