Concepedia

Phenotypic Abnormality Classification

Phenotypic Abnormality Classification is a computational method that categorizes observable traits or characteristics in biological entities by identifying deviations from normal phenotypic states within structured ontology frameworks.

48

Publications

4.5K

Citations

411

Authors

247

Institutions

Publications per year

2017–2026

13

Parents

Publications

48

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

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 837 citations · Full text

, , +14

A Revised Classification of von Willebrand Disease

J. Evan Sadler · Thrombosis and Haemostasis · 1994 · 591 citations

, , +17

Hepatocellular adenoma management and phenotypic classification

Paulette Bioulac‐Sage, H. Laumonier, Gabrielle Couchy et al. · Hepatology · 2009 · 437 citations

, , +17

The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape

Belinda Schaefer, Mark Lewin, K K Stout et al. · Heart · 2008 · 434 citations

, , +14

Phenotypic classification of male pseudohermaphroditism due to steroid 5α-reductase 2 deficiency

Gernot H.G. Sinnecker, Olaf Hiort, L. Dibbelt et al. · American Journal of Medical Genetics · 1996 · 186 citations

, , +17

1–5 of 48

Authors

411

  1. DV
    Daniela V. Luquetti

    University of Washington, United States

    3 publications · 93 citations

    3

    h-index

  2. CL
    Carrie L. Heike

    University of Washington, United States

    3 publications · 93 citations

    3

    h-index

  3. RT
    Rossella Tupler

    University of Modena and Reggio Emilia, Italy

    2 publications · 121 citations

    2

    h-index

  4. PN
    Peter N. Robinson

    Charité - Universitätsmedizin Berlin, Germany

    2 publications · 869 citations

    2

    h-index

  5. YN
    Yasuni Nakanuma

    Kanazawa University, Japan

    2 publications · 101 citations

    2

    h-index

1–5 of 411

Institutions

247

  1. Inserm

    Paris, France

    5 h-index

    18 publications

    3.8K citations

  2. Johns Hopkins University

    Baltimore, United States

    4 h-index

    8 publications

    139 citations

  3. University College London

    London, United Kingdom

    3 h-index

    20 publications

    3.1K citations

  4. University of Washington

    Seattle, United States

    3 h-index

    9 publications

    672 citations

  5. Kanazawa University

    Kanazawa, Japan

    2 h-index

    4 publications

    202 citations

  6. Université de Lille

    Lille, France

    2 h-index

    2 publications

    106 citations

  7. Radboud University Medical Center

    Nijmegen, The Netherlands

    2 h-index

    4 publications

    2.6K citations

  8. Centre Hospitalier Universitaire de Lille

    Lille, France

    2 h-index

    6 publications

    446 citations

1–8 of 247

Venues

  1. BMC Medical Genetics

    2 publications · 37 citations

    2

    h-index

  2. American Journal of Medical Genetics

    2 publications · 359 citations

    2

    h-index

  3. Journal of Neurology

    1 publications · 99 citations

    1

    h-index

  4. Australian Veterinary Journal

    1 publications · 12 citations

    1

    h-index

  5. Genes to Cells

    1 publications · 34 citations

    1

    h-index

1–5