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The Human Phenotype Ontology in 2021The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas.
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Minimal structural lung disease in early life represents significant pathologyIn this cohort, as compared with the AREST CF cohort, the authors highlight the limited correlation between infection and inflammation with lung function and structural impairment, and that this was mainly explained by the mild changes identified in lung function and on chest CT scan.
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Financial Interventions to Increase Vaccine CoverageRecent vaccine mandates in Australia, as in other high income settings, have sought to change the behavior of parents, including those who would otherwise access nonmedical exemptions. Since 2014, Australian state governments have introduced and progressively tightened policies restricting the access of unvaccinated children to early education and child care.
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Timeliness and factors associated with rotavirus vaccine uptake among Australian Aboriginal and non-Aboriginal children: A record linkage cohort studyAboriginal children are at greater risk of rotavirus disease than non-Aboriginal children and delayed vaccine receipt is substantially higher
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Caregiver-perceived racial discrimination is associated with diverse mental health outcomes in Aboriginal and Torres Strait Islander children aged 7-12 yearsExposure to racial discrimination in Aboriginal children increased the risk for a spectrum of interrelated factors linked to negative mental health
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Does Child Care in the First Year of Life Pose a Risk for Concurrent and Future Ear Infections?The longitudinal analyses found no evidence of increased (or decreased) long-term risk of ear infections in subsequent waves associated with attending a child care centre
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Association of Genetic and Environmental Factors with Autism in a 5-Country CohortBased on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%
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Birth seasonality and risk of autism spectrum disorderIn the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden
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Molecular Epidemiology of Noninvasive and Invasive Group A Streptococcal Infections in Cape TownThere is low coverage of the multivalent M protein vaccine in our setting, emphasizing the need to reformulate the vaccine to improve coverage
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Mapping the global prevalence, incidence, and mortality of Plasmodium falciparum, 2000-17: a spatial and temporal modelling studyHigh-resolution maps of P falciparum are a resource for informing global policy and malaria control planning, programme implementation, and monitoring initiatives