Human Phenotype Ontology

The Human Phenotype Ontology is being developed to provide a structured and controlled vocabulary for the phenotypic features encountered in human hereditary and other disease. Our goal is to provide resource for the computational analysis of the human phenome, with a current focus on monogenic diseases listed in the Online Mendelian Inheritance in Man (OMIM) database, for which annotations are also provided.

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Data and Resources

REST API Wiki Documentation
REST API Wiki Documentation

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SPARQL endpoint
SPARQL endpoint

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Download link, BioPortal API KEY is required

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Additional Info

Field	Value
Source	http://bioportal.bioontology.org/ontologies/1125
Author	Peter Robinson
Maintainer	BioPortal project on behalf of ontology owner.
Last Updated	October 10, 2013, 19:58 (UTC)
Created	May 18, 2012, 18:49 (UTC)
links:bioportal-acgt	54
links:bioportal-aero	16
links:bioportal-air	59
links:bioportal-bdo	99
links:bioportal-bho	33
links:bioportal-birnlex	51
links:bioportal-canco	366
links:bioportal-csp	598
links:bioportal-cst	571
links:bioportal-ctcae	212
links:bioportal-ctx	106
links:bioportal-doid	742
links:bioportal-efo	312
links:bioportal-ehda	18
links:bioportal-ep	12
links:bioportal-ev	69
links:bioportal-fhho	20
links:bioportal-galen	545
links:bioportal-hom_ehs	10
links:bioportal-icd10	369
links:bioportal-icd10cm	621
links:bioportal-icd9cm	386
links:bioportal-icnp	76
links:bioportal-icpc	55
links:bioportal-icpc2p	699
links:bioportal-idomal	13
links:bioportal-lnc	187
links:bioportal-mccl	21
links:bioportal-mccl_x1	777
links:bioportal-mdr	1860
links:bioportal-medlineplus	311
links:bioportal-mesh-owl	2377
links:bioportal-mp	774
links:bioportal-mpath	114
links:bioportal-msh	1297
links:bioportal-natpro	597
links:bioportal-nbo	32
links:bioportal-ncbitaxon	19
links:bioportal-ncit	1226
links:bioportal-ndfrt	793
links:bioportal-nif	748
links:bioportal-nif_cell	12
links:bioportal-nif_dysfunction	88
links:bioportal-ogmd	12
links:bioportal-omim	6584
links:bioportal-ontoorpha	666
links:bioportal-pato	12
links:bioportal-pdq	81
links:bioportal-pedterm	80
links:bioportal-pma	16
links:bioportal-rcd	1575
links:bioportal-rid	354
links:bioportal-shr	27
links:bioportal-snomedct	4010
links:bioportal-sopharm	888
links:bioportal-sso	51
links:bioportal-tm-signs-and-sympts	37
links:bioportal-uberon	11
links:bioportal-vo	16
links:bioportal-who	486
published-via	http://sparql.bioontology.org
sparql-named-graph	http://bioportal.bioontology.org/ontologies/HP_x1
triples	107770