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Paper Details

Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records.
Genes (Basel)
4
2021
Down Syndrome, Down syndrome, Downslanted palpebral fissures, HPO, HPO terms, Human, Human Phenotype, Mendelian diseases, Microtia, Proptosis, genetic disorders, patient, patients
Author NameAffiliation
Chunhua WengColumbia University Irving Medical Center
Ingo HelbigChildren's Hospital of Philadelphia
Ingo HelbigChildren's Hospital of Philadelphia
Ingo HelbigChildren's Hospital of Philadelphia
Ingo HelbigPerelman School of Medicine, University of Pennsylvania
Kai WangCenter for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia
Kai WangChildren's Hospital of Philadelphia
Kai WangPerelman School of Medicine, University of Pennsylvania
Kai WangCenter for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia
Kai WangChildren's Hospital of Philadelphia
Kai WangPerelman School of Medicine, University of Pennsylvania
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Datasets

Dataset
Description
Source Link
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Release 1.2