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Human Phenotype Ontology Database
URI:
https://gptkb.org/entity/Human_Phenotype_Ontology_Database
GPTKB entity
Statements (52)
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
https://www.w3.org/2000/01/rdf-schema#label
Human Phenotype Ontology Database
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