Human Interaction Network Ontology

Last uploaded: June 27, 2014
Preferred Name

Disease

Synonyms
Definitions

Biological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular viewpoint, human disease pathways have three mechanistic causes: the inclusion of microbially-expressed proteins, altered functions of human proteins, or changed expression levels of otherwise functionally normal human proteins.<p>The first group encompasses the infectious diseases such as influenza, tuberculosis and HIV infection. The second group involves human proteins modified either by a mutation or by an abnormal post-translational event that produces an aberrant protein with a novel function. Examples include somatic mutations of EGFR and FGFR (epidermal and fibroblast growth factor receptor) genes, which encode constitutively active receptors that signal even in the absence of their ligands, or the somatic mutation of IDH1 (isocitrate dehydrogenase 1) that leads to an enzyme active on 2-oxoglutarate rather than isocitrate, or the abnormal protein aggregations of amyloidosis which lead to diseases such as Alzheimer's.<p>Infectious diseases are represented in Reactome as microbial-human protein interactions and the consequent events. The existence of variant proteins and their association with disease-specific biological processes is represented by inclusion of the modified protein in a new or variant reaction, an extension to the 'normal' pathway. Diseases which result from proteins performing their normal functions but at abnormal rates can also be captured, though less directly. Many mutant alleles encode proteins that retain their normal functions but have abnormal stabilities or catalytic efficiencies, leading to normal reactions that proceed to abnormal extents. The phenotypes of such diseases can be revealed when pathway annotations are combined with expression or rate data from other sources.

ID

http://purl.obolibrary.org/obo/HINO_0015722

comment

Biological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular viewpoint, human disease pathways have three mechanistic causes: the inclusion of microbially-expressed proteins, altered functions of human proteins, or changed expression levels of otherwise functionally normal human proteins.

The first group encompasses the infectious diseases such as influenza, tuberculosis and HIV infection. The second group involves human proteins modified either by a mutation or by an abnormal post-translational event that produces an aberrant protein with a novel function. Examples include somatic mutations of EGFR and FGFR (epidermal and fibroblast growth factor receptor) genes, which encode constitutively active receptors that signal even in the absence of their ligands, or the somatic mutation of IDH1 (isocitrate dehydrogenase 1) that leads to an enzyme active on 2-oxoglutarate rather than isocitrate, or the abnormal protein aggregations of amyloidosis which lead to diseases such as Alzheimer's.

Infectious diseases are represented in Reactome as microbial-human protein interactions and the consequent events. The existence of variant proteins and their association with disease-specific biological processes is represented by inclusion of the modified protein in a new or variant reaction, an extension to the 'normal' pathway. Diseases which result from proteins performing their normal functions but at abnormal rates can also be captured, though less directly. Many mutant alleles encode proteins that retain their normal functions but have abnormal stabilities or catalytic efficiencies, leading to normal reactions that proceed to abnormal extents. The phenotypes of such diseases can be revealed when pathway annotations are combined with expression or rate data from other sources.

definition source

Reactome, http://www.reactome.org

label

Disease

located_in

http://purl.obolibrary.org/obo/NCBITaxon_9606

prefixIRI

HINO:0015722

prefLabel

Disease

seeAlso

Reactome Database ID Release 431643685

ReactomeREACT_116125

subClassOf

http://purl.obolibrary.org/obo/INO_0000021

has_part

http://purl.obolibrary.org/obo/HINO_0016053

http://purl.obolibrary.org/obo/HINO_0015991

http://purl.obolibrary.org/obo/HINO_0015996

http://purl.obolibrary.org/obo/HINO_0016075

http://purl.obolibrary.org/obo/HINO_0016076

http://purl.obolibrary.org/obo/HINO_0016283

http://purl.obolibrary.org/obo/HINO_0016280

http://purl.obolibrary.org/obo/HINO_0016282

http://purl.obolibrary.org/obo/HINO_0015696

http://purl.obolibrary.org/obo/HINO_0016018

http://purl.obolibrary.org/obo/HINO_0015721

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.ebi.ac.uk/efo/EFO_0000408 EFO LOOM
http://purl.obolibrary.org/obo/MI_0617 MI LOOM
https://w3id.org/biolink/vocab/Disease BIOLINK LOOM
https://w3id.org/biolink/vocab/Disease BIOLINK LOOM
http://www.owl-ontologies.com/Ontology1239104585.owl#Disease BCGO LOOM
http://scai.fraunhofer.de/CSEO#CSEO_10000024 CSEO LOOM
http://www.semanticweb.org/erden/ontologies/2023/7/LiverCancerExample/OWLClass_b5ec253b_53ec_4771_82e9_fa3d0d08dd33 CONDOR LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_11013 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_11013 NIFSTD LOOM
http://purl.jp/bio/4/id/201606017936711318 IOBC LOOM
http://purl.org/zonmw/generic/10026 ZONMW-GENERIC LOOM
http://www.dispedia.de/o/Disease DCO LOOM
http://www.semanticweb.org/hsh/ontologies/2019/7/CBRDystempOnto#Disease CASE-BASE-ONTO LOOM
http://scai.fraunhofer.de/CSEO#CSEO_00000971 CSEO LOOM
http://www.semanticweb.org/begum/ontologies/2018/10/untitled-ontology-6#Disease DMDSONT LOOM
http://www.semanticweb.org/ontologies/chronic-diease-patient-education-ontology#Disease CDPEO LOOM
http://chem.deri.ie/granatum#Disease CANCO LOOM
http://purl.obolibrary.org/obo/DOID_4 DIAB LOOM
http://purl.obolibrary.org/obo/DOID_4 RBO LOOM
http://purl.obolibrary.org/obo/DOID_4 RBO LOOM
http://purl.obolibrary.org/obo/DOID_4 OCD LOOM
http://purl.obolibrary.org/obo/DOID_4 EUPATH LOOM
http://purl.obolibrary.org/obo/DOID_4 CLO LOOM
http://purl.obolibrary.org/obo/DOID_4 VICO LOOM
http://purl.obolibrary.org/obo/DOID_4 INBANCIDO LOOM
http://purl.obolibrary.org/obo/DOID_4 OHPI LOOM
http://purl.obolibrary.org/obo/DOID_4 CHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4 OMIT LOOM
http://purl.obolibrary.org/obo/DOID_4 HOIP LOOM
http://purl.obolibrary.org/obo/DOID_4 DTO LOOM
http://purl.obolibrary.org/obo/DOID_4 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4 HSO LOOM
http://purl.obolibrary.org/obo/DOID_4 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_4 SCDO LOOM
http://purl.obolibrary.org/obo/DOID_4 OLAM LOOM
http://purl.obolibrary.org/obo/DOID_4 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4 TXPO LOOM
http://purl.obolibrary.org/obo/DOID_4 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_4 CIDO LOOM
http://purl.obolibrary.org/obo/DOID_4 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4 CAROLIO LOOM
http://purl.obolibrary.org/obo/DOID_4 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4 MELO LOOM
http://purl.obolibrary.org/obo/DOID_4 VO LOOM
http://purl.obolibrary.org/obo/DOID_4 VO LOOM
http://purl.obolibrary.org/obo/DOID_4 GENEPIO LOOM
http://purl.obolibrary.org/obo/DOID_4 OHMI LOOM
http://purl.obolibrary.org/obo/DOID_4 NCRO LOOM
http://purl.bioontology.org/ontology/LNC/LA18199-2 LOINC LOOM
http://purl.obolibrary.org/obo/DERMO_0000000 DERMO LOOM
http://www.bioassayontology.org/bao#BAO_0002927 BAO LOOM
http://www.case.edu/EpSO.owl#Disease MEPO LOOM
http://purl.bioontology.org/ontology/RCD/X76AZ RCD LOOM
http://purl.obolibrary.org/obo/TRAK_0000205 TRAK LOOM
http://sweetontology.net/phenBiol/Disease SWEET LOOM
http://purl.obolibrary.org/obo/OBI_1110055 NEOMARK4 LOOM
http://dbpedia.org/ontology/Disease DCO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 IDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 HTN LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 MFOMD LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 MFMO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OAE LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 PDRO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OCD LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 CTO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OBI LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 ACESO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 INBANCIDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OHD LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 PLANP LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OHPI LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NDDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 VSO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NGBO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 CCO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 CRENO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 ELECTRICA LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 REXO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 ONE LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OPMI LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OBI_BCGO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 AGRO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 VDOT LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 GEXO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 BMS-LM LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 ORCS LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 EGO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 COVID-19 LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 PNADO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 DDIEM LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 KTAO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NIFDYS LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OBIB LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 ONS LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OBOREL LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 HUPSON LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 APOLLO-SV LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 SDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NMDCO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 ICDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 PLANTSO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 CHRO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 CIDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OBI_IEE LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NIFSTD LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 KTAO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 VIDO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 ONSTR LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 RETO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 GENEPIO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OPMI LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 IDO-COVID-19 LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 OGMS LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NMDCO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NIO LOOM
http://purl.obolibrary.org/obo/OGMS_0000031 NMDCO LOOM
http://id.nlm.nih.gov/mesh/D004194 MDM LOOM
http://vocabs.lter-europe.net/EnvThes/21012 ENVTHES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.550.288 RH-MESH LOOM
http://www.ebi.ac.uk/efo/EFO_0000408 CLO LOOM
http://www.ebi.ac.uk/efo/EFO_0000408 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0000408 GENEPIO LOOM
http://purl.obolibrary.org/obo/MONDO_0000001 OOSTT LOOM
http://purl.obolibrary.org/obo/MONDO_0000001 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0000001 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0000001 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0000001 GENEPIO LOOM
http://www.projecthalo.com/aura#Disease AURA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4014 OCHV LOOM
http://purl.obolibrary.org/obo/creno.owl#Disease CRENO LOOM
http://www.shojaee.com/shr/shr.owl#Disease SHR LOOM
http://www.semanticweb.org/ontologies/2010/2/MiRNA-Ontology.owl#Disease NEUMORE LOOM
http://www.semanticweb.org/ontologies/2010/2/MiRNA-Ontology.owl#Disease PVONTO LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_11013 BIRNLEX LOOM
http://vavlab.ee.boun.edu.tr/carera/khaos/lico.owl#Disease LICO LOOM
urn:agi-folder:disease BPT LOOM
http://www.orpha.net/ORDO/Orphanet_377788 ORDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00035870 PMAPP-PMO LOOM
http://www.isibang.ac.in/ns/codo#Disease CODO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Engel_2001_Menkes’_Disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Engel_2001_Alpers’_Disease MEPO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0012634 OCHV LOOM
http://opendata.inra.fr/AHOL/AHOL_0005001 AHOL LOOM
http://www.semanticweb.org/hanfei/ontologies/2020/9/untitled-ontology-1306#Disease COVID-19-ONT-PM LOOM
http://purl.bioontology.org/ontology/MESH/D004194 MESH LOOM
http://brd.bsvgateway.org/api/disease/ ABD LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#disease MEPO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#disease EPISEM LOOM
http://purl.obolibrary.org/obo/ExO_0000079 EXO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Menkes'_Disease MEPO LOOM
http://www.semanticweb.org/ontologies/2010/5/22/Ontology1277229984000.owl#HPI:0000026 HPIO LOOM
http://www.ifomis.org/acgt/1.0#Disease ACGT-MO LOOM
http://doe-generated-ontology.com/OntoAD#C0012634 ONTOAD LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Alpers'_Disease MEPO LOOM
http://www.semanticweb.org/dellvostro3750/ontologies/2018/2/untitled-ontology-10#disease HP_O LOOM
http://vocabs.lter-europe.net/EnvThes/USLterCV_155 ENVTHES LOOM
http://www.semanticweb.org/maria/ontologies/2023/1/OntologiaByMAF#OWLClass_94f15b74_e615_4e1a_a162_c9f95c18afd6 SP_ONTOLOGY LOOM
http://pgxo.loria.fr/Disease PGXO LOOM
http://purl.org/autism-ontology/1.0/autism-core.owl#AUTISMC1000038 ADAR LOOM
http://purl.obolibrary.org/obo/GSSO_000486 GSSO LOOM
http://www.case.edu/PMDO#Disease PMDO LOOM
http://www.semanticweb.org/danielhier/ontologies/2019/3/untitled-ontology-57#disease NEO LOOM
http://purl.bioontology.org/ontology/ICPC2P/A99001 ICPC2P LOOM
http://www.semanticweb.org/parracarlos/ontologies/2019/3/untitled-ontology-31#Disease ADHER_INTCARE_EN LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 ACESO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/64572001 SNOMEDCT LOOM
http://www.semanticweb.org/ontologies/2012/8/Ontology1348158066194.owl#OWLClass_00000012615273587629 ELIG LOOM
http://semanticscience.org/resource/Disease CHEAR LOOM
http://www.limics.org/hrdo/rdfns#typ_id_11 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004194 RH-MESH LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Disease MEPO LOOM
http://www.bootstrep.eu/ontology/GRO#Disease GRO LOOM
http://purl.obolibrary.org/obo/exm.owl/EXM_000000000308 EXMO LOOM
http://www.w3.org/2001/sw/hcls/ns/transmed/TMO_0047 TMO LOOM
http://purl.bioontology.org/ontology/PMR.owl#Disease PMR LOOM
http://purl.obolibrary.org/obo#disease COVID19-IBO LOOM
http://scai.fraunhofer.de/NDDUO#disease ADO LOOM
http://semanticscience.org/resource/SIO_010299 HHEARP LOOM
http://semanticscience.org/resource/SIO_010299 SIO LOOM
http://semanticscience.org/resource/SIO_010299 CHEAR LOOM
http://semanticscience.org/resource/SIO_010299 BIOMO LOOM
http://semanticscience.org/resource/SIO_010299 SCO LOOM
http://semanticscience.org/resource/SIO_010299 HHEAR LOOM
http://semanticscience.org/resource/SIO_010299 HASCO LOOM
http://purl.obolibrary.org/obo/IEV_0000075 PTS LOOM
http://webprotege.stanford.edu/RBdVjT6X9mH1nSXd2YTRm0t PATEL LOOM
http://purl.obolibrary.org/obo/OMIT_0005457 OMIT LOOM