Neurological Disease Ontology

Alexander DiehlUniversity at Buffalo

October 5, 2011

Ontologies for Neuroscience and Neurology

• The Neurological Disease Ontology (ND)– Based on the Ontology for General Medical

Sciences– Incorporates parts of NIF-Dysfunction and the

Disease Ontology– Three initial areas of focus• Dementia, in particular Alzheimers• Multiple Sclerosis• Stroke, Cerebralvascular events

Ontology Development

• Based on published existing ontologies as well as the scientific literature, including original articles, reviews, and text books

• Ontology terms (classes) are given both textual and logical definitions. Logical definitions relate the term to terms in other ontologies.

Ontology Development

• Top-Down and Bottom-Up Approaches Utilized.

• Top-Down starts with high level categories and fills in more specialized classes.

• Bottom-Up looks at specific literature and sees what classes are needed to represent a domain.

The Ontology for General Medical Sciences (OGMS)provides top level classes for the Neurology Disease Ontology.

The Ontology for General Medical Sciences (OGMS)provides top level classes for the Neurology Disease Ontology.

Bottom-Up (Annotation-Driven) Ontology Development

Lancet (1998) 352:1498

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Bottom-Up (Annotation-Driven) Ontology Development

Lancet (1998) 352:1498

Bottom-Up (Annotation-Driven) Ontology Development

Journal of Neuroimmunology (2007) 188:167

Bottom-Up (Annotation-Driven) Ontology Development

Journal of Neuroimmunology (2007) 188:167

Bottom-Up (Annotation-Driven) Ontology Development

Nature Genetics (2010) 42(6):495

Bottom-Up (Annotation-Driven) Ontology Development

Nature Genetics (2010) 42(6):495

A Proto-MS Ontology

Alexander Diehladdiehl@buffalo.edu

Neurological Disease Ontology(MS, Dementia, Stroke)

Mark Jensen, Alexander Cox, Bianca Weinstock-Guttman, Kinga Szigiti, Alan Ruttenberg, Barry Smith