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