Curation and expansion of Human Phenotype Ontology for Systemic Auto inflammatory Disease SAID improves phenotype-driven disease matching

被引：0

作者：

Maassen, Kars ^{[1
]}

Legger, Elizabeth ^{[2
]}

Cinar, Ovgu Kul ^{[3
]}

van Daele, Paul ^{[4
]}

Gattorno, Marco ^{[5
]}

Bader-Meunier, Brigitte ^{[6
]}

Wouters, Carine ^{[7
]}

Briggs, Tracy ^{[8
]}

Johansson, Lennart ^{[1
]}

Van der Velde, Joeri ^{[1
]}

Swertz, Morris ^{[1
]}

Omoyinmi, Ebun ^{[9
]}

Hoppenreijs, Esther ^{[10
]}

Eleftheriou, Despina ^{[9
]}

Caorsi, Roberta ^{[5
]}

Aeschlimann, Florence ^{[11
]}

van Nieuwenhove, Erika ^{[6
]}

Boursier, Guilaine ^{[12
]}

Brogan, Paul ^{[9
]}

Haimel, Matthias ^{[13
]}

van Gijn, Marielle E. ^{[1
]}

机构：

[1] UMCG Noord, Genet, Groningen, Netherlands

[2] Univ Med Ctr Groningen, Paediat Rheumatol, Groningen, Netherlands

[3] UCL Great Ormond St Inst Child Hlth, Pediat Reumatol, London, England

[4] Erasmus MC, Internal Med, Rotterdam, Netherlands

[5] Giannina Gaslini Inst, Rheumatol & Autoinflammatory Dis, Genoa, Italy

[6] Hop Necker Enfants Malad, Immunol & Pediat Rheumatol, Paris, France

[7] UZ Leuven, Immunobiol, Leuven, Belgium

[8] Univ Manchester, Evolut & Genom Sci, Manchester, Lancs, England

[9] Great Ormond St Hosp Sick Children, Inflammat & Rheumatol, London, England

[10] Radboud Univ Nijmegen Med Ctr, Paediat, Nijmegen, Netherlands

[11] Univ Basel Hosp, Child & adolescent Med, Basel, Switzerland

[12] Hosp Ctr Univ Montpellier, Reference Ctr Autoinflammatory Dis & Amyloidosis, Montpellier, France

[13] Boehringer Ingelheim GmbH & Co KG, Bioinformat, Vienna, Austria

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P08.023.C

引用

页码：448 / 449

页数：2

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