The human phenotype ontology in 2017
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
Target risk factors for dementia prevention: a systematic review and Delphi consensus study on the evidence from observational studies
K Deckers, MPJ van Boxtel… - … journal of geriatric …, 2015 - Wiley Online Library
Objective Dementia has a multifactorial etiology, but the importance of individual health and
lifestyle related risk factors is often uncertain or based on few studies. The goal of this paper …
lifestyle related risk factors is often uncertain or based on few studies. The goal of this paper …
Global prevalence of young-onset dementia: a systematic review and meta-analysis
S Hendriks, K Peetoom, C Bakker… - JAMA …, 2021 - jamanetwork.com
Importance Reliable prevalence estimates are lacking for young-onset dementia (YOD), in
which symptoms of dementia start before the age of 65 years. Such estimates are needed for …
which symptoms of dementia start before the age of 65 years. Such estimates are needed for …
[PDF][PDF] The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease
There are many thousands of hereditary diseases in humans, each of which has a specific
combination of phenotypic features, but computational analysis of phenotypic data has been …
combination of phenotypic features, but computational analysis of phenotypic data has been …
Prevalence of cerebral amyloid pathology in persons without dementia: a meta-analysis
Importance Cerebral amyloid-β aggregation is an early pathological event in Alzheimer
disease (AD), starting decades before dementia onset. Estimates of the prevalence of …
disease (AD), starting decades before dementia onset. Estimates of the prevalence of …
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Abstract The Human Phenotype Ontology (HPO) project, available at http://www. human-
phenotype-ontology. org, provides a structured, comprehensive and well-defined set of …
phenotype-ontology. org, provides a structured, comprehensive and well-defined set of …
[PDF][PDF] Walking the interactome for prioritization of candidate disease genes
The identification of genes associated with hereditary disorders has contributed to improving
medical care and to a better understanding of gene functions, interactions, and pathways …
medical care and to a better understanding of gene functions, interactions, and pathways …
The human phenotype ontology in 2021
Abstract The Human Phenotype Ontology (HPO, https://hpo. jax. org) was launched in 2008
to provide a comprehensive logical standard to describe and computationally analyze …
to provide a comprehensive logical standard to describe and computationally analyze …
[HTML][HTML] Clinical diagnostics in human genetics with semantic similarity searches in ontologies
The differential diagnostic process attempts to identify candidate diseases that best explain
a set of clinical features. This process can be complicated by the fact that the features can …
a set of clinical features. This process can be complicated by the fact that the features can …
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …
abnormalities associated with 7000+ diseases—is used by thousands of researchers …