Mapping the Symptoms of Alzheimer’s Disease and its Subtypes to Mammalianand Human Phenotype Ontology Terms to Enhance Cross Species Analysis


Sarah Stofel

Document Type


Publication Date

Summer 2021

JAX Location

In: Student Reports, Summer 2021, The Jackson Laboratory


For over a century, Alzheimer’s Disease (AD) has perplexed scientists with its lack of clear etiology and heterogenous presentation. Because of this, model organisms have become an increasingly important tool for uncovering the unknown biological mechanisms implicated in AD. Integrating studies on model organisms of disease prove difficult without a common, structured vocabulary available for scientists to use in cross species analysis. The overall goal of this project was to map and expand the symptomatic terms for six of the designated Familial Alzheimer’s Disease subtypes within the Mammalian and Human Phenotype Ontologies. A literature review of 59 papers was conducted to collect phenotypes for each subtype. From those 59 papers, 145 phenotypes were collected. 59 phenotypes of these were already mapped to existing terms in the Mammalian Phenotype and Human Phenotype Ontologies. Of the remaining 86, 21 were proposed as new terms on the ontologies. The remaining phenotypes will be requested for addition to the ontologies by MP developers. All phenotypes collected this summer will be passed on to the Disease Ontology to extend disease to symptom axioms.

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