Repository for the Human Disease Ontology (DO). Details DO OBO and OWL files are available in our GitHub repository. The DO provides both the asserted DO is_a hierarchy and inferred versions of our ontology files.Please review our file README for details. ...
The human genome has been extensively annotated with Gene Ontology for biological functions, but minimally computationally annotated for diseases. We used the Unified Medical Language System (UMLS) MetaMap Transfer tool (MMTx) to discover gene-disease relationships from the GeneRIF database. We ...
Contact the Human Disease Ontology team: lschriml@som.umaryland.edu Citing the Symptom Ontology Please cite the following when using the Symptom Ontology: Schriml LM, Arze C, Nadendla S, et al. GeMInA, Genomic Metadata for Infectious Agents, a geospatial surveillance pathogen database. Nucleic...
The Human Phenotype Ontology (HPO) is being developed in an effort to provide such a vocabulary. The use of an ontology to capture phenotypic information allows the use of computational algorithms that exploit semantic similarity between related phenotypic abnormalities to define phenotypic similarity ...
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The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis of next-generation sequence-variation data, and translational research, but a comparable resource has not been available for common disease. Here, we have developed ...
We are developing the Neurological Disease Ontology (ND) to provide a framework to enable representation of aspects of neurological diseases that are relevant to their treatment and study. ND is a representational tool that addresses the need for unambig
et al. Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data. Nucleic Acids Res. 43, D1071–D1078 (2015). Article PubMed CAS Google Scholar Yu, G. et al. BRWLDA: bi-random walks for predicting lncRNA-...
These results suggest a mechanistic basis for the contribution of the T16189C variant to human disease and demonstrate the potential for mitochondrial DNaseI footprinting to simultaneously identify sequence variation and its functional consequences. Higher-Order Mitochondrial Genome Organization Little is ...
The Alliance of Genome Resources (the Alliance) is a consortium of seven model organism knowledgebases and the Gene Ontology resource. The mission of the Alliance is to support comparative genomics as a means to investigate the genetic and genomic basis of human biology, health, and disease. Th...