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Paper Details

Finding commonalities in rare diseases through the undiagnosed diseases network.
J Am Med Inform Assoc
2
2021
Human, Patients, Undiagnosed Diseases, developmental delay, growth disorders, hypotonia, patients, rare disease, rare diseases, undiagnosed diseases
Author NameAffiliation
Alba Guti??rrez-Sacrist??nHarvard Medical School
Alba Guti??rrez-Sacrist??nHarvard Medical School
Vianney JouhetHarvard Medical School
Vianney JouhetHarvard Medical School
Kimberly H LeBlancHarvard Medical School
Cecilia EstevesHarvard Medical School
Nathan PalmerHarvard Medical School
Nathan PalmerHarvard Medical School
Isaac S KohaneHarvard Medical School
Isaac S KohaneHarvard Medical School
Paul AvillachHarvard Medical School
Paul AvillachHarvard Medical School
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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