Entity/quality-based logical definitions for the human skeletal phenome using PATO.
This paper describes an approach to providing computer-interpretable logical definitions for the terms of the Human Phenotype Ontology (HPO) using PATO, the ontology of phenotypic qualities, to link terms of the HPO to the anatomic and other entities that are affected by abnormal phenotypic qualities. This approach will allow improved computerized reasoning as well as a facility to compare phenotypes between different species. The PATO mapping will also provide direct links from phenotypic abnormalities and underlying anatomic structures encoded using the Foundational Model of Anatomy, which will be a valuable resource for computational investigations of the links between anatomical components and concepts representing diseases with abnormal phenotypes and associated genes.
Gkoutos
Georgios V
GV
Department of Genetics, University of Cambridge, Downing Street, Cambridge, CB2 3EH, England. gg295@gen.cam.ac.uk
Mungall
Chris
C
Dolken
Sandra
S
Ashburner
Michael
M
Lewis
Suzanna
S
Hancock
John
J
Schofield
Paul
P
Kohler
Sebastian
S
Robinson
Peter N
PN
D000818:Animals; D001698:Biomedical Engineering; D019295:Computational Biology; D006801:Humans; D008382:Marfan Syndrome / Q000473:pathology; D051379:Mice; D008953:Models, Anatomic; D010641:Phenotype; D013045:Species Specificity; D018875:Vocabulary, Controlled