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Table 1 Phenotypic terms included in PhenPathDB

From: PhenPath: a tool for characterizing biological functions underlying different phenotypes

Ontology

Phenotypic terms (#)

Diseases associated to Phenotypic terms (#)

Phenotypic leaf terms (#)

Diseases associated to Phenotypic leaf terms (#)

OMIM Clinical Synopsisa

18

4165

–

–

HPO

7173

4292

3837

4023

HPO sub-ontology Phenotypic Abnormalitiesb

5661

4273

3802

3721

  1. aOMIM Clinical Synopsis is not organized in a graph and, as a consequence, it does not contain distinction among root, intermediate and leaf terms. bHPO Phenotypic Abnormalities are the subset of HPO, organized according to body districts and physiological functions into 24 different main terms
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BMC Genomics

ISSN: 1471-2164

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