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.

Data and Resources

Additional Info

Field Value
Source http://bioportal.bioontology.org/ontologies/1125
Author Peter Robinson
Maintainer BioPortal project on behalf of ontology owner.
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