China human phenotype ontology

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August undefined, 2024

WebThe Human Phenotype Ontology (HPO) is one of the most popular bioinformatics resources. Recently, HPO-based phenotype semantic similarity has been effectively … WebGenotype-phenotype studies have shown promise in improving disease diagnosis in humans and identification of specific clinical phenotypes may be helpful in developing more effective therapeutic and diagnostic strategies.

Human Phenotype Ontology - Ontobee: HP

WebThe Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO … WebThe Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease. Terms Ontology Homepage Request a Term Browse Terms Browse Properties - Preferred root terms All terms Ontology information - Ontology IRI: http://purl.obolibrary.org/obo/hp.owl chloe bell outer temple chambers

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http://human-phenotype-ontology.github.io/ WebJul 14, 2016 · Identification of disease-causing genes is a fundamental challenge for human health studies. The phenotypic similarity among diseases may reflect the interactions at the molecular level, and phenotype comparison can be used to predict disease candidate genes. Online Mendelian Inheritance in Man (OMI … WebHuman Phenotype Ontology, a standardized vocabulary of phenotypic abnormalities encountered in human disease. With unmatched depth it enables clinicians to record and analyse data with extremely accurate computer interpretable ontology terms. Developed by The Monarch Initiative. grassroots training director

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(PDF) HPOSim: An R Package for Phenotypic Similarity

WebPurpose: To identify the spectrum and frequency of mutations in congenital ectopia lentis (CEL) and to investigate the correlations between genotype and clinical phenotype in … WebFeb 9, 2015 · The Human Phenotype Ontology (HPO) provides a standardized and controlled vocabulary covering phenotypic abnormalities in human diseases, and becomes a comprehensive resource for … chloe bellmore instagramWebNov 8, 2024 · First developed as platforms to integrate cross-species ontology information, CL and Uberon are now species-neutral ontologies with a strong focus on mammalian cell types and anatomies, with ... chloe bee photography

"WebApr 11, 2024 · Patient phenotype. A proband, 6-year-old girl, presented with discolored teeth and anterior open bite. The patient had a history of frequent common cold since 3 months old and was admitted to the ... " - China human phenotype ontology

China human phenotype ontology

WebMar 31, 2024 · Data Availability Statement. The data supporting the findings from this study are available in the main manuscript and supplementary materials. The raw sequence data reported in this paper have been deposited in the GenomeSequence Archive of the Beijing Institute of Genomics (BIG) Data Center, BIG, Chinese Academy of Sciences (GSA … WebNov 24, 2016 · The Human Phenotype Ontology (HPO) provides comprehensive bioinformatic resources for the analysis of human diseases and phenotypes, offering a computational bridge between genome biology and clinical medicine.

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Web1 day ago · Oocyte maturation arrest is one of the important causes of female infertility, but the genetic factors remain largely unknown. PABPC1L, a predominant poly(A)-binding protein in Xenopus, mouse, and human oocytes and early embryos prior to zygotic genome activation, plays a key role in translational activation of maternal mRNAs.Here, we … WebThe Human Phenotype Ontology is being developed to provide a structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other …

WebSep 17, 2024 · Download a PDF of the paper titled PhenoTagger: A Hybrid Method for Phenotype Concept Recognition using Human Phenotype Ontology, by Ling Luo and 9 other authors. Download PDF Abstract: Automatic phenotype concept recognition from unstructured text remains a challenging task in biomedical text mining research. Previous … WebJan 27, 2024 · description: The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease. subject: Phenotypic abnormalities encountered in human disease title: Human Phenotype Ontology versionIRI: http://purl.obolibrary.org/obo/hp/releases/2024 …

WebNational Center for Biotechnology Information WebJan 1, 2024 · Köhler S, Vasilevsky NA, Engelstad M (2016) The human phenotype ontology in 2024. Nucleic Acids Res 45(D1):D865–D876. Google Scholar Robinson PN, Köhler S, Bauer S et al (2008) The human phenotype ontology: a tool for annotation and analyzing human hereditary disease. Am J Hum Genet 83(5):610–615

WebApr 4, 2024 · Human Phenotype (HPO) Browser; More; Human Disease; Expression. Gene Expression Data Search; Gene Expression Literature Search; Mouse Developmental Anatomy Browser; ... Protein Ontology. PR:000010477 matrix metalloproteinase-17 (term hierarchy) EC. 3.4.24.-InterPro Domains. IPR000585 Hemopexin-like domain.

WebApr 13, 2024 · Neuroinflammation is closely related to the development of Parkinson's disease (PD). Because of the extensive sources, non-invasive and periodical collection method, human menstrual blood-derived endometrial stem cells (MenSCs) have been explored as a promising tool for treatment of PD. This study aimed to investigate if … grassroots training brightonWebPhenoTagger is a hybrid method that combines dictionary and deep learning-based methods to recognize Human Phenotype Ontology (HPO) concepts in unstructured … chloe bell outer templeWebThis article describes the cosmological and ontological assumptions of diviners in contemporary China with a view to contributing to current anthropological debates on … grassroots training ocala floridaWebThe Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as Atrial septal defect. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. grassroots training coursesWebPRMT7 contributes to the metastasis phenotype in human non-small-cell lung cancer cells possibly through the interaction with HSPA5 and EEF2 Dezhi Cheng,1,2 Zhifeng He,2 Liangcheng Zheng,2 Deyao Xie,2 Shangwen Dong,1 Peng Zhang1 1Department of Thoracic Surgery, Tianjin Medical University General Hospital, Tianjin, China; 2Department of … chloe bell lowtonWebA substantial body of research is focused to improve the understanding of the relationship between genotypes and phenotypes. Genotype–phenotype studies have shown … grassroots transformation initiative ugandaWebThe Human Phenotype Ontology (HPO) is a formal ontology of human phenotypes. Developed in collaboration with members of the Open Biomedical Ontologies Foundry, … chloe belsito