Human Phenotype Ontology Database

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:dictionary gptkb:database
gptkbp:abbreviation	gptkb:HPO
gptkbp:contains	phenotypic abnormalities phenotype definitions phenotype relationships phenotype terms
gptkbp:focusesOn	human phenotypes
gptkbp:hasLanguage	English
gptkbp:license	CC BY 4.0
gptkbp:maintainedBy	gptkb:Charité_–_Universitätsmedizin_Berlin gptkb:The_Monarch_Initiative
gptkbp:phoneNumber	gptkb:Charles_E._Chute gptkb:Christopher_J._Mungall gptkb:Damian_Smedley gptkb:David_Osumi-Sutherland gptkb:Helen_Parkinson gptkb:Jules_Jacobsen gptkb:Julie_A._McMurry gptkb:Maximilian_V._Fürstenau gptkb:Melissa_A._Harris gptkb:Melissa_Haendel gptkb:Monica_Munoz-Torres gptkb:Nicole_A._Vasilevsky gptkb:Nicole_L._Washington gptkb:Nicole_Vasilevsky gptkb:Nicole_Washington gptkb:Peter_N._Robinson gptkb:Sebastian_Köhler
gptkbp:publishedIn	https://doi.org/10.1093/nar/gkab1043 https://doi.org/10.1093/nar/gkad1042 https://doi.org/10.1093/nar/gkp1039 https://doi.org/10.1093/nar/gkt1026 https://doi.org/10.1093/nar/gkw1039
gptkbp:releaseYear	2024-02-13
gptkbp:supportsFormat	gptkb:JSON gptkb:OWL gptkb:OBO
gptkbp:usedBy	gptkb:Orphanet gptkb:ClinVar gptkb:OMIM gptkb:DECIPHER gptkb:Exomiser gptkb:GeneMatcher gptkb:Phenotips
gptkbp:usedFor	clinical genetics rare disease diagnosis genomic research
gptkbp:website	https://hpo.jax.org/
gptkbp:bfsParent	gptkb:HPOD
gptkbp:bfsLayer	6
https://www.w3.org/2000/01/rdf-schema#label	Human Phenotype Ontology Database