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Paper Details

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.
Nat Genet
14
2023
Author NameAffiliation
Alexander J M DingemansDonders Institute for Brain, Radboud University Medical Center
Alexander J M DingemansDonders Institute for Brain, Radboud University
Nicole de LeeuwDonders Institute for Brain, Radboud University Medical Center
Anneke T Vulto-van SilfhoutDonders Institute for Brain, Radboud University Medical Center
David A KoolenDonders Institute for Brain, Radboud University Medical Center
Gholson J LyonDepartment of Human Genetics and George A. Jervis Clinic, Institute for Basic Research in Developmental Disabilities (IBR)
Gholson J LyonThe City University of New York
Fowzan S AlkurayaCenter for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Bert B A de VriesDonders Institute for Brain, Radboud University Medical Center
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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