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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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Köhler S, et al. Nucleic Acids Res. 2021;49(D1):D1207-D1217.
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gptkbp:contains
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phenotypic abnormalities
disease annotations
phenotypic terms
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gptkbp:domain
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biomedical
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gptkbp:firstReleased
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2008
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gptkbp:focus
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human phenotypic abnormalities
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gptkbp:format
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gptkb:JSON
gptkb:OWL
gptkb:OBO
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gptkbp:fullName
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gptkb:Human_Phenotype_Ontology
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https://www.w3.org/2000/01/rdf-schema#label
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HPO
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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:relatedTo
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gptkb:UMLS
gptkb:Gene_Ontology
gptkb:SNOMED_CT
gptkb:Mondo_Disease_Ontology
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gptkbp:terminalCount
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over 16,000
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gptkbp:updated
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regularly
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gptkbp:usedBy
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gptkb:GeneReviews
gptkb:Orphanet
gptkb:ClinVar
gptkb:OMIM
gptkb:DECIPHER
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gptkbp:usedFor
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genetic research
clinical genomics
rare disease diagnosis
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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:Human_Phenotype_Ontology
gptkb:Human_Phenotype_Ontology_Database
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gptkbp:bfsLayer
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7
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