The Human Phenotype Ontology
Article first published online: 19 APR 2010
DOI: 10.1111/j.1399-0004.2010.01436.x
© 2010 John Wiley & Sons A/S
Additional Information
How to Cite
Robinson, P. and Mundlos, S. (2010), The Human Phenotype Ontology. Clinical Genetics, 77: 525–534. doi: 10.1111/j.1399-0004.2010.01436.x
Publication History
- Issue published online: 9 MAY 2010
- Article first published online: 19 APR 2010
- Received 14 December 2009, revised and accepted for publication 15 March 2010
- Abstract
- Article
- References
- Cited By
Cited in:
- CrossRef
This article has been cited by:
- 1, , , , , , , , , , , , A Two-Level Model for the Analysis of Syndrome of Acute Ischemic Stroke: From Diagnostic Model to Molecular Mechanism, Evidence-Based Complementary and Alternative Medicine, 2013, 2013, 1
- 2, , , , , , , , , , , , , , dbVar and DGVa: public archives for genomic structural variation, Nucleic Acids Research, 2013, 41, D1, D936
- 3, , Detection and interpretation of genomic structural variation in health and disease, Expert Review of Molecular Diagnostics, 2013, 13, 1, 61
- 4, , , Informatics and clinical genome sequencing: opening the black box, Genetics in Medicine, 2013, 15, 3, 165
- 5, , , Point mutations as a source of de novo genetic disease, Current Opinion in Genetics & Development, 2013,
- 6, , , , , , , , STOP using just GO: a multi-ontology hypothesis generation tool for high throughput experimentation, BMC Bioinformatics, 2013, 14, 1, 53
- 7, , Systematic analysis of somatic mutations in phosphorylation signaling predicts novel cancer drivers, Molecular Systems Biology, 2013, 9,
- 8, , , , , An infrastructure for ontology-based information systems in biomedicine: RICORDO case study, Bioinformatics, 2012, 28, 3, 448
- 9, , , , , , , , An ontology-based personalization of health-care knowledge to support clinical decisions for chronically ill patients, Journal of Biomedical Informatics, 2012, 45, 3, 429
- You have free access to this content10, , , ApiNATOMY: A novel toolkit for visualizing multiscale anatomy schematics with phenotype-related information, Human Mutation, 2012, 33, 5Direct Link:
- 11, , , , , , , , , Calculating phenotypic similarity between genes using hierarchical structure data based on semantic similarity, Gene, 2012, 497, 1, 58
- 12, , , , , , , Co-clustering phenome-genome for phenotype classification and disease gene discovery, Nucleic Acids Research, 2012, 40, 19, e146
- You have free access to this content13, , , , Databases for neurogenetics: Introduction, overview, and challenges, Human Mutation, 2012, 33, 9Direct Link:
- 14, , , , , , , , , DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders, Human Molecular Genetics, 2012, 21, R1, R37
- You have free access to this content15, , , , , , , , , , , , , , , , Diagnostic interpretation of array data using public databases and internet sources, Human Mutation, 2012, 33, 6Direct Link:
- 16, , , , , , , , Disease Ontology: a backbone for disease semantic integration, Nucleic Acids Research, 2012, 40, D1, D940
- 17, , , , , Large-scale mouse knockouts and phenotypes, Wiley Interdisciplinary Reviews: Systems Biology and Medicine, 2012, 4, 6Direct Link:
- 18, , , , , , Merging network patterns: a general framework to summarize biomedical network data, Network Modeling Analysis in Health Informatics and Bioinformatics, 2012, 1, 3, 103
- 19, , , , , , , , , , MSV3d: database of human MisSense variants mapped to 3D protein structure, Database, 2012, 2012, 0, bas018
- You have free access to this content20, , , , , Ontological phenotype standards for neurogenetics, Human Mutation, 2012, 33, 9Direct Link:
- You have free access to this content21, , , , Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience, Human Mutation, 2012, 33, 5Direct Link:
- 22
- 23, , , , , , Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis, BMC Medical Informatics and Decision Making, 2012, 12, 1, 78
- 24, , , , Semantically enabling a genome-wide association study database, Journal of Biomedical Semantics, 2012, 3, 1, 9
- 25, , , , , , Summarizing Phenotype Evolution Patterns from Report Cases, Journal of Medical Systems, 2012, 36, S1, 25
- 26, Synaptopathies: diseases of the synaptome, Current Opinion in Neurobiology, 2012, 22, 3, 522
- 27, , , , , , , , , The Laboratory-Clinician Team: A Professional Call to Action to Improve Communication and Collaboration for Optimal Patient Care in Chromosomal Microarray Testing, Journal of Genetic Counseling, 2012, 21, 5, 631
- 28
- 29
- 30
- 31, , Analysis of protein function and its prediction from amino acid sequence, Proteins: Structure, Function, and Bioinformatics, 2011, 79, 7Direct Link:
- 32, , , , , , , , , , , Clarity and claims in variation/mutation databasing, Nature Biotechnology, 2011, 29, 9, 790
- 33
- 34, , , g:Profiler--a web server for functional interpretation of gene lists (2011 update), Nucleic Acids Research, 2011, 39, suppl, W307
- 35, , , , , , , , Improving ontologies by automatic reasoning and evaluation of logical definitions, BMC Bioinformatics, 2011, 12, 1, 418
- 36, , , , , PIDO: the primary immunodeficiency disease ontology, Bioinformatics, 2011, 27, 22, 3193
- 37, , , , PREDICT: a method for inferring novel drug indications with application to personalized medicine, Molecular Systems Biology, 2011, 7,
- You have free access to this content38, , , Strategies for exome and genome sequence data analysis in disease-gene discovery projects, Clinical Genetics, 2011, 80, 2Direct Link:
- You have free access to this content39, , The Deciphering Developmental Disorders (DDD) study, Developmental Medicine & Child Neurology, 2011, 53, 8Direct Link:
- 40, , , , , , , , , , , , , , , , , , , , , , , , , The FaceBase Consortium: A comprehensive program to facilitate craniofacial research, Developmental Biology, 2011, 355, 2, 175
- 41, , , , , The RICORDO approach to semantic interoperability for biomedical data and models: strategy, standards and solutions, BMC Research Notes, 2011, 4, 1, 313
- 42

1399-0004/asset/olbannerleft.gif?v=1&s=f4df12fcfdddd9e4e4f23e893fc19413602f3e2e)
1399-0004/asset/olbannerright.gif?v=1&s=679f4ac6faa8ea7552ef0d2445fd911f67c53053)
