Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Haimel, Matthias [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2022 |
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| Schlagwörter: |
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| Umfang: |
10 |
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| Übergeordnetes Werk: |
Enthalten in: Antidiabetic treatment in elderly patients with low performance status admitted to internal medicine ward - Papakitsou, I. ELSEVIER, 2022, official publication of the American Academy of Allergy, Asthma and Immunology, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:149 ; year:2022 ; number:1 ; pages:369-378 ; extent:10 |
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| DOI / URN: |
10.1016/j.jaci.2021.04.033 |
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| 520 | |a Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. | ||
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10.1016/j.jaci.2021.04.033 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001636.pica (DE-627)ELV056417403 (ELSEVIER)S0091-6749(21)00732-6 DE-627 ger DE-627 rakwb eng 610 VZ 44.85 bkl Haimel, Matthias verfasserin aut Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity 2022 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. phenotype Elsevier rare diseases Elsevier immunodeficiencies Elsevier genetic analysis Elsevier disease classification Elsevier HPO Elsevier diagnostic support Elsevier inborn errors of immunity Elsevier patient matching Elsevier ontology Elsevier Pazmandi, Julia oth Heredia, Raúl Jiménez oth Dmytrus, Jasmin oth Bal, Sevgi Köstel oth Zoghi, Samaneh oth van Daele, Paul oth Briggs, Tracy A. oth Wouters, Carine oth Bader-Meunier, Brigitte oth Aeschlimann, Florence A. oth Caorsi, Roberta oth Eleftheriou, Despina oth Hoppenreijs, Esther oth Salzer, Elisabeth oth Bakhtiar, Shahrzad oth Derfalvi, Beata oth Saettini, Francesco oth Kusters, Maaike A.A. oth Elfeky, Reem oth Trück, Johannes oth Rivière, Jacques G. oth van der Burg, Mirjam oth Gattorno, Marco oth Seidel, Markus G. oth Burns, Siobhan oth Warnatz, Klaus oth Hauck, Fabian oth Brogan, Paul oth Gilmour, Kimberly C. oth Schuetz, Catharina oth Simon, Anna oth Bock, Christoph oth Hambleton, Sophie oth de Vries, Esther oth Robinson, Peter N. oth van Gijn, Marielle oth Boztug, Kaan oth Enthalten in Elsevier Papakitsou, I. ELSEVIER Antidiabetic treatment in elderly patients with low performance status admitted to internal medicine ward 2022 official publication of the American Academy of Allergy, Asthma and Immunology Amsterdam [u.a.] (DE-627)ELV000021164 volume:149 year:2022 number:1 pages:369-378 extent:10 https://doi.org/10.1016/j.jaci.2021.04.033 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.85 Kardiologie Angiologie VZ AR 149 2022 1 369-378 10 |
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10.1016/j.jaci.2021.04.033 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001636.pica (DE-627)ELV056417403 (ELSEVIER)S0091-6749(21)00732-6 DE-627 ger DE-627 rakwb eng 610 VZ 44.85 bkl Haimel, Matthias verfasserin aut Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity 2022 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. phenotype Elsevier rare diseases Elsevier immunodeficiencies Elsevier genetic analysis Elsevier disease classification Elsevier HPO Elsevier diagnostic support Elsevier inborn errors of immunity Elsevier patient matching Elsevier ontology Elsevier Pazmandi, Julia oth Heredia, Raúl Jiménez oth Dmytrus, Jasmin oth Bal, Sevgi Köstel oth Zoghi, Samaneh oth van Daele, Paul oth Briggs, Tracy A. oth Wouters, Carine oth Bader-Meunier, Brigitte oth Aeschlimann, Florence A. oth Caorsi, Roberta oth Eleftheriou, Despina oth Hoppenreijs, Esther oth Salzer, Elisabeth oth Bakhtiar, Shahrzad oth Derfalvi, Beata oth Saettini, Francesco oth Kusters, Maaike A.A. oth Elfeky, Reem oth Trück, Johannes oth Rivière, Jacques G. oth van der Burg, Mirjam oth Gattorno, Marco oth Seidel, Markus G. oth Burns, Siobhan oth Warnatz, Klaus oth Hauck, Fabian oth Brogan, Paul oth Gilmour, Kimberly C. oth Schuetz, Catharina oth Simon, Anna oth Bock, Christoph oth Hambleton, Sophie oth de Vries, Esther oth Robinson, Peter N. oth van Gijn, Marielle oth Boztug, Kaan oth Enthalten in Elsevier Papakitsou, I. ELSEVIER Antidiabetic treatment in elderly patients with low performance status admitted to internal medicine ward 2022 official publication of the American Academy of Allergy, Asthma and Immunology Amsterdam [u.a.] (DE-627)ELV000021164 volume:149 year:2022 number:1 pages:369-378 extent:10 https://doi.org/10.1016/j.jaci.2021.04.033 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.85 Kardiologie Angiologie VZ AR 149 2022 1 369-378 10 |
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10.1016/j.jaci.2021.04.033 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001636.pica (DE-627)ELV056417403 (ELSEVIER)S0091-6749(21)00732-6 DE-627 ger DE-627 rakwb eng 610 VZ 44.85 bkl Haimel, Matthias verfasserin aut Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity 2022 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. phenotype Elsevier rare diseases Elsevier immunodeficiencies Elsevier genetic analysis Elsevier disease classification Elsevier HPO Elsevier diagnostic support Elsevier inborn errors of immunity Elsevier patient matching Elsevier ontology Elsevier Pazmandi, Julia oth Heredia, Raúl Jiménez oth Dmytrus, Jasmin oth Bal, Sevgi Köstel oth Zoghi, Samaneh oth van Daele, Paul oth Briggs, Tracy A. oth Wouters, Carine oth Bader-Meunier, Brigitte oth Aeschlimann, Florence A. oth Caorsi, Roberta oth Eleftheriou, Despina oth Hoppenreijs, Esther oth Salzer, Elisabeth oth Bakhtiar, Shahrzad oth Derfalvi, Beata oth Saettini, Francesco oth Kusters, Maaike A.A. oth Elfeky, Reem oth Trück, Johannes oth Rivière, Jacques G. oth van der Burg, Mirjam oth Gattorno, Marco oth Seidel, Markus G. oth Burns, Siobhan oth Warnatz, Klaus oth Hauck, Fabian oth Brogan, Paul oth Gilmour, Kimberly C. oth Schuetz, Catharina oth Simon, Anna oth Bock, Christoph oth Hambleton, Sophie oth de Vries, Esther oth Robinson, Peter N. oth van Gijn, Marielle oth Boztug, Kaan oth Enthalten in Elsevier Papakitsou, I. ELSEVIER Antidiabetic treatment in elderly patients with low performance status admitted to internal medicine ward 2022 official publication of the American Academy of Allergy, Asthma and Immunology Amsterdam [u.a.] (DE-627)ELV000021164 volume:149 year:2022 number:1 pages:369-378 extent:10 https://doi.org/10.1016/j.jaci.2021.04.033 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.85 Kardiologie Angiologie VZ AR 149 2022 1 369-378 10 |
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10.1016/j.jaci.2021.04.033 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001636.pica (DE-627)ELV056417403 (ELSEVIER)S0091-6749(21)00732-6 DE-627 ger DE-627 rakwb eng 610 VZ 44.85 bkl Haimel, Matthias verfasserin aut Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity 2022 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. phenotype Elsevier rare diseases Elsevier immunodeficiencies Elsevier genetic analysis Elsevier disease classification Elsevier HPO Elsevier diagnostic support Elsevier inborn errors of immunity Elsevier patient matching Elsevier ontology Elsevier Pazmandi, Julia oth Heredia, Raúl Jiménez oth Dmytrus, Jasmin oth Bal, Sevgi Köstel oth Zoghi, Samaneh oth van Daele, Paul oth Briggs, Tracy A. oth Wouters, Carine oth Bader-Meunier, Brigitte oth Aeschlimann, Florence A. oth Caorsi, Roberta oth Eleftheriou, Despina oth Hoppenreijs, Esther oth Salzer, Elisabeth oth Bakhtiar, Shahrzad oth Derfalvi, Beata oth Saettini, Francesco oth Kusters, Maaike A.A. oth Elfeky, Reem oth Trück, Johannes oth Rivière, Jacques G. oth van der Burg, Mirjam oth Gattorno, Marco oth Seidel, Markus G. oth Burns, Siobhan oth Warnatz, Klaus oth Hauck, Fabian oth Brogan, Paul oth Gilmour, Kimberly C. oth Schuetz, Catharina oth Simon, Anna oth Bock, Christoph oth Hambleton, Sophie oth de Vries, Esther oth Robinson, Peter N. oth van Gijn, Marielle oth Boztug, Kaan oth Enthalten in Elsevier Papakitsou, I. ELSEVIER Antidiabetic treatment in elderly patients with low performance status admitted to internal medicine ward 2022 official publication of the American Academy of Allergy, Asthma and Immunology Amsterdam [u.a.] (DE-627)ELV000021164 volume:149 year:2022 number:1 pages:369-378 extent:10 https://doi.org/10.1016/j.jaci.2021.04.033 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.85 Kardiologie Angiologie VZ AR 149 2022 1 369-378 10 |
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10.1016/j.jaci.2021.04.033 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001636.pica (DE-627)ELV056417403 (ELSEVIER)S0091-6749(21)00732-6 DE-627 ger DE-627 rakwb eng 610 VZ 44.85 bkl Haimel, Matthias verfasserin aut Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity 2022 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. phenotype Elsevier rare diseases Elsevier immunodeficiencies Elsevier genetic analysis Elsevier disease classification Elsevier HPO Elsevier diagnostic support Elsevier inborn errors of immunity Elsevier patient matching Elsevier ontology Elsevier Pazmandi, Julia oth Heredia, Raúl Jiménez oth Dmytrus, Jasmin oth Bal, Sevgi Köstel oth Zoghi, Samaneh oth van Daele, Paul oth Briggs, Tracy A. oth Wouters, Carine oth Bader-Meunier, Brigitte oth Aeschlimann, Florence A. oth Caorsi, Roberta oth Eleftheriou, Despina oth Hoppenreijs, Esther oth Salzer, Elisabeth oth Bakhtiar, Shahrzad oth Derfalvi, Beata oth Saettini, Francesco oth Kusters, Maaike A.A. oth Elfeky, Reem oth Trück, Johannes oth Rivière, Jacques G. oth van der Burg, Mirjam oth Gattorno, Marco oth Seidel, Markus G. oth Burns, Siobhan oth Warnatz, Klaus oth Hauck, Fabian oth Brogan, Paul oth Gilmour, Kimberly C. oth Schuetz, Catharina oth Simon, Anna oth Bock, Christoph oth Hambleton, Sophie oth de Vries, Esther oth Robinson, Peter N. oth van Gijn, Marielle oth Boztug, Kaan oth Enthalten in Elsevier Papakitsou, I. ELSEVIER Antidiabetic treatment in elderly patients with low performance status admitted to internal medicine ward 2022 official publication of the American Academy of Allergy, Asthma and Immunology Amsterdam [u.a.] (DE-627)ELV000021164 volume:149 year:2022 number:1 pages:369-378 extent:10 https://doi.org/10.1016/j.jaci.2021.04.033 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.85 Kardiologie Angiologie VZ AR 149 2022 1 369-378 10 |
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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity |
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Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. |
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Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. |
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Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms. |
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