|
gptkbp:instanceOf
|
gptkb:dictionary
|
|
gptkbp:abbreviation
|
gptkb:HPO
|
|
gptkbp:citation
|
numerous scientific publications
|
|
gptkbp:contains
|
hierarchical structure
annotations to diseases
phenotypic abnormality terms
|
|
gptkbp:creator
|
gptkb:Peter_N._Robinson
|
|
gptkbp:field
|
gptkb:medicine
genetics
bioinformatics
|
|
gptkbp:firstPublished
|
2008
|
|
gptkbp:format
|
gptkb:OWL
gptkb:OBO
|
|
gptkbp:hasPart
|
frequency
severity
mode of inheritance
clinical course
clinical modifier
onset
phenotypic abnormality
spatial pattern
temporal pattern
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Human Phenotype Ontology
|
|
gptkbp:language
|
English
|
|
gptkbp:license
|
CC BY 4.0
|
|
gptkbp:maintainedBy
|
gptkb:Charité_–_Universitätsmedizin_Berlin
gptkb:Monarch_Initiative
|
|
gptkbp:purpose
|
standardized vocabulary of phenotypic abnormalities
|
|
gptkbp:relatedTo
|
gptkb:Orphanet
gptkb:Gene_Ontology
gptkb:OMIM
gptkb:Monarch_Initiative
|
|
gptkbp:terminalCount
|
over 13,000
|
|
gptkbp:updated
|
regularly
|
|
gptkbp:usedBy
|
gptkb:researchers
clinicians
bioinformaticians
|
|
gptkbp:usedFor
|
clinical genetics
rare disease diagnosis
genomic diagnostics
phenotype-driven analysis
|
|
gptkbp:usedIn
|
gptkb:ClinVar
gptkb:100,000_Genomes_Project
gptkb:DECIPHER
gptkb:EGA
gptkb:Exomiser
gptkb:Matchmaker_Exchange
gptkb:PhenIX
gptkb:Phenomizer
gptkb:Phenotips
gptkb:RD-Connect
gptkb:GA4GH
|
|
gptkbp:website
|
https://hpo.jax.org/
|
|
gptkbp:bfsParent
|
gptkb:OBO_Foundry
gptkb:HPOD
gptkb:Phenopackets
|
|
gptkbp:bfsLayer
|
6
|