Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the immune system (HP:0002715)help
Parent Node:
expand
Abnormality of immune system physiology (HP:0010978)help
..Starting node
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Sepsis (HP:0100806)help
Term ID: 100806
Name: Sepsis
Synonym: Infection in blood stream
Definition: Systemic inflammatory response to infection.
Comments:
Reference: HP:0100806
Genes and Diseases:
 
       Child Nodes:
........expandNeonatal sepsis (HP:0040187) help

 Sister Nodes: 
..expandAbnormal inflammatory response (HP:0012647) help
..expandAbnormal lymphocyte physiology (HP:0031409) help
..expandAbnormal lymphocyte surface marker expression (HP:0031383) help
..expandAbnormal MHC II surface expression (HP:0031389) help
..expandAbnormality of humoral immunity (HP:0005368) help
..expandAbnormality of immune serum protein physiology (HP:0011111) help
..expandAutoimmunity (HP:0002960) help
..expandChronic infection (HP:0031035) help
..expandImmune dysregulation (HP:0002958) help
..expandImmunodeficiency (HP:0002721) help
..expandImmunologic hypersensitivity (HP:0100326) help
..expandImpaired antigen-specific response (HP:0031404) help
..expandOpportunistic infection (HP:0031690) help
..expandRecurrent infections (HP:0002719) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100806HP:0100806Sepsis0AK2 CL E G H20433355ORPHA11987362103020
HP:0100806HP:0100806Sepsis0AK2 CL E G H204267500Reticular dysgenesis267500C0272167OMIM11987362103020
HP:0100806HP:0100806Sepsis0BTK CL E G H69547ORPHA19104211133300300
HP:0100806HP:0100806Sepsis0ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA12202283309130130
HP:0100806HP:0100806Sepsis0FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM11413723151607901
HP:0100806HP:0100806Sepsis0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0100806HP:0100806Sepsis0ITGB4 CL E G H3691158684ORPHA1992926158147557
HP:0100806HP:0100806Sepsis0MNX1 CL E G H3110176450Currarino triad176450C1531773OMIM1801064979142994
HP:0100806HP:0100806Sepsis0PLEC CL E G H5339158684ORPHA110427619069601282
HP:0100806HP:0100806Sepsis0RAG1 CL E G H5896231154ORPHA11873349831179615
HP:0100806HP:0100806Sepsis0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
HP:0100806HP:0100806Sepsis1AK2 CL E G H20433355ORPHA11987362103020
HP:0100806HP:0100806Sepsis1AK2 CL E G H204267500Reticular dysgenesis267500C0272167OMIM11987362103020
HP:0100806HP:0100806Sepsis1BTK CL E G H69547ORPHA19104211133300300
HP:0100806HP:0100806Sepsis1ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA12202283309130130
HP:0100806HP:0100806Sepsis1FERMT3 CL E G H83706612840Leukocyte adhesion deficiency, type III612840C2748536OMIM11413723151607901
HP:0100806HP:0100806Sepsis1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM14011924861611045
HP:0100806HP:0100806Sepsis1ITGB4 CL E G H3691158684ORPHA1992926158147557
HP:0100806HP:0100806Sepsis1MNX1 CL E G H3110176450Currarino triad176450C1531773OMIM1801064979142994
HP:0100806HP:0100806Sepsis1PLEC CL E G H5339158684ORPHA110427619069601282
HP:0100806HP:0100806Sepsis1RAG1 CL E G H5896231154ORPHA11873349831179615
HP:0100806HP:0100806Sepsis1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100806HP:0100806Sepsis0ABCA12 CL E G H26154313ORPHA013629414637607800
HP:0100806HP:0100806Sepsis0ACTG2 CL E G H722241Factor XI deficiency, congenitalORPHA02049145102545
HP:0100806HP:0100806Sepsis0ADA CL E G H10039041ORPHA096215186608958
HP:0100806HP:0100806Sepsis0ALOX12B CL E G H242313ORPHA064156430603741
HP:0100806HP:0100806Sepsis0ALOXE3 CL E G H59344313ORPHA02213813743607206
HP:0100806HP:0100806Sepsis0APC CL E G H324873Bethlem myopathyC1834674ORPHA019517734583611731
HP:0100806HP:0100806Sepsis0ATP7A CL E G H538565ORPHA0357607869300011
HP:0100806HP:0100806Sepsis0BLNK CL E G H2976033110ORPHA039114211604515
HP:0100806HP:0100806Sepsis0CD79A CL E G H97333110ORPHA08531698112205
HP:0100806HP:0100806Sepsis0CD79B CL E G H97433110ORPHA03511699147245
HP:0100806HP:0100806Sepsis0CHD7 CL E G H5563639041ORPHA0884126620626608892
HP:0100806HP:0100806Sepsis0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA0541802514116806
HP:0100806HP:0100806Sepsis0CYBA CL E G H1535379ORPHA0761792577608508
HP:0100806HP:0100806Sepsis0CYBB CL E G H1536379ORPHA07823762578300481
HP:0100806HP:0100806Sepsis0CYBC1 CL E G H79415379ORPHA0133286720
HP:0100806HP:0100806Sepsis0CYP4F22 CL E G H126410313ORPHA04514826820611495
HP:0100806HP:0100806Sepsis0DCLRE1C CL E G H6442139041ORPHA09131817642605988
HP:0100806HP:0100806Sepsis0ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA07473146600423
HP:0100806HP:0100806Sepsis0EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA0211173178131242
HP:0100806HP:0100806Sepsis0EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA0701913180131244
HP:0100806HP:0100806Sepsis0GALT CL E G H259279239ORPHA03375554135606999
HP:0100806HP:0100806Sepsis0GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA0111194232600837
HP:0100806HP:0100806Sepsis0HLA-B CL E G H310636426ORPHA053174932142830
HP:0100806HP:0100806Sepsis0IGHM CL E G H350733110ORPHA017815541147020
HP:0100806HP:0100806Sepsis0IGLL1 CL E G H354333110ORPHA031865870146770
HP:0100806HP:0100806Sepsis0IKZF1 CL E G H1032036426ORPHA0384213176603023
HP:0100806HP:0100806Sepsis0IL2RG CL E G H356139041ORPHA02502716010308380
HP:0100806HP:0100806Sepsis0IL7R CL E G H357539041ORPHA0592406024146661
HP:0100806HP:0100806Sepsis0LIG4 CL E G H398139041ORPHA0403176601601837
HP:0100806HP:0100806Sepsis0LIPN CL E G H643418313ORPHA012823452613924
HP:0100806HP:0100806Sepsis0LMOD1 CL E G H258022241Factor XI deficiency, congenitalORPHA01246647602715
HP:0100806HP:0100806Sepsis0LRRC8A CL E G H5626233110ORPHA037419027608360
HP:0100806HP:0100806Sepsis0MMUT CL E G H4594289916ORPHA04407526609058
HP:0100806HP:0100806Sepsis0MYH11 CL E G H46292241Factor XI deficiency, congenitalORPHA06919907569160745
HP:0100806HP:0100806Sepsis0MYLK CL E G H46382241Factor XI deficiency, congenitalORPHA0438927590600922
HP:0100806HP:0100806Sepsis0NCF1 CL E G H653361379ORPHA048867660608512
HP:0100806HP:0100806Sepsis0NCF2 CL E G H4688379ORPHA0791837661608515
HP:0100806HP:0100806Sepsis0NCF4 CL E G H4689379ORPHA0131197662601488
HP:0100806HP:0100806Sepsis0NFKB2 CL E G H4791293978ORPHA0111657795164012
HP:0100806HP:0100806Sepsis0NIPAL4 CL E G H348938313ORPHA01812928018609383
HP:0100806HP:0100806Sepsis0NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA03158007602018
HP:0100806HP:0100806Sepsis0PIK3R1 CL E G H529533110ORPHA0291568979171833
HP:0100806HP:0100806Sepsis0RAG1 CL E G H589639041ORPHA01873349831179615
HP:0100806HP:0100806Sepsis0RAG2 CL E G H589739041ORPHA0841759832179616
HP:0100806HP:0100806Sepsis0RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA043214969967164761
HP:0100806HP:0100806Sepsis0RMRP CL E G H602339041ORPHA012341110031157660
HP:0100806HP:0100806Sepsis0SDR9C7 CL E G H121214313ORPHA091929958609769
HP:0100806HP:0100806Sepsis0SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA044210725602645
HP:0100806HP:0100806Sepsis0SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA0144810726609907
HP:0100806HP:0100806Sepsis0SULT2B1 CL E G H6820313ORPHA083911459604125
HP:0100806HP:0100806Sepsis0TCF3 CL E G H692933110ORPHA059111633147141
HP:0100806HP:0100806Sepsis0TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM0311511763190010
HP:0100806HP:0100806Sepsis0TGM1 CL E G H7051313ORPHA018929611777190195
HP:0100806HP:0100806Sepsis0WAS CL E G H7454906ORPHA044134512731300392
HP:0100806HP:0100806Sepsis0WIPF1 CL E G H7456906ORPHA0310512736602357
HP:0100806HP:0100806Sepsis1ABCA12 CL E G H26154313ORPHA013629414637607800
HP:0100806HP:0100806Sepsis1ACTG2 CL E G H722241Factor XI deficiency, congenitalORPHA02049145102545
HP:0100806HP:0100806Sepsis1ADA CL E G H10039041ORPHA096215186608958
HP:0100806HP:0100806Sepsis1ALOX12B CL E G H242313ORPHA064156430603741
HP:0100806HP:0100806Sepsis1ALOXE3 CL E G H59344313ORPHA02213813743607206
HP:0100806HP:0100806Sepsis1APC CL E G H324873Bethlem myopathyC1834674ORPHA019517734583611731
HP:0100806HP:0100806Sepsis1ATP7A CL E G H538565ORPHA0357607869300011
HP:0100806HP:0100806Sepsis1BLNK CL E G H2976033110ORPHA039114211604515
HP:0100806HP:0100806Sepsis1CD79A CL E G H97333110ORPHA08531698112205
HP:0100806HP:0100806Sepsis1CD79B CL E G H97433110ORPHA03511699147245
HP:0100806HP:0100806Sepsis1CHD7 CL E G H5563639041ORPHA0884126620626608892
HP:0100806HP:0100806Sepsis1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA0541802514116806
HP:0100806HP:0100806Sepsis1CYBA CL E G H1535379ORPHA0761792577608508
HP:0100806HP:0100806Sepsis1CYBB CL E G H1536379ORPHA07823762578300481
HP:0100806HP:0100806Sepsis1CYBC1 CL E G H79415379ORPHA0133286720
HP:0100806HP:0100806Sepsis1CYP4F22 CL E G H126410313ORPHA04514826820611495
HP:0100806HP:0100806Sepsis1DCLRE1C CL E G H6442139041ORPHA09131817642605988
HP:0100806HP:0100806Sepsis1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA07473146600423
HP:0100806HP:0100806Sepsis1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA0211173178131242
HP:0100806HP:0100806Sepsis1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA0701913180131244
HP:0100806HP:0100806Sepsis1GALT CL E G H259279239ORPHA03375554135606999
HP:0100806HP:0100806Sepsis1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA0111194232600837
HP:0100806HP:0100806Sepsis1HLA-B CL E G H310636426ORPHA053174932142830
HP:0100806HP:0100806Sepsis1IGHM CL E G H350733110ORPHA017815541147020
HP:0100806HP:0100806Sepsis1IGLL1 CL E G H354333110ORPHA031865870146770
HP:0100806HP:0100806Sepsis1IKZF1 CL E G H1032036426ORPHA0384213176603023
HP:0100806HP:0100806Sepsis1IL2RG CL E G H356139041ORPHA02502716010308380
HP:0100806HP:0100806Sepsis1IL7R CL E G H357539041ORPHA0592406024146661
HP:0100806HP:0100806Sepsis1LIG4 CL E G H398139041ORPHA0403176601601837
HP:0100806HP:0100806Sepsis1LIPN CL E G H643418313ORPHA012823452613924
HP:0100806HP:0100806Sepsis1LMOD1 CL E G H258022241Factor XI deficiency, congenitalORPHA01246647602715
HP:0100806HP:0100806Sepsis1LRRC8A CL E G H5626233110ORPHA037419027608360
HP:0100806HP:0100806Sepsis1MMUT CL E G H4594289916ORPHA04407526609058
HP:0100806HP:0100806Sepsis1MYH11 CL E G H46292241Factor XI deficiency, congenitalORPHA06919907569160745
HP:0100806HP:0100806Sepsis1MYLK CL E G H46382241Factor XI deficiency, congenitalORPHA0438927590600922
HP:0100806HP:0100806Sepsis1NCF1 CL E G H653361379ORPHA048867660608512
HP:0100806HP:0100806Sepsis1NCF2 CL E G H4688379ORPHA0791837661608515
HP:0100806HP:0100806Sepsis1NCF4 CL E G H4689379ORPHA0131197662601488
HP:0100806HP:0100806Sepsis1NFKB2 CL E G H4791293978ORPHA0111657795164012
HP:0100806HP:0100806Sepsis1NIPAL4 CL E G H348938313ORPHA01812928018609383
HP:0100806HP:0100806Sepsis1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA03158007602018
HP:0100806HP:0100806Sepsis1PIK3R1 CL E G H529533110ORPHA0291568979171833
HP:0100806HP:0100806Sepsis1RAG1 CL E G H589639041ORPHA01873349831179615
HP:0100806HP:0100806Sepsis1RAG2 CL E G H589739041ORPHA0841759832179616
HP:0100806HP:0100806Sepsis1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA043214969967164761
HP:0100806HP:0100806Sepsis1RMRP CL E G H602339041ORPHA012341110031157660
HP:0100806HP:0100806Sepsis1SDR9C7 CL E G H121214313ORPHA091929958609769
HP:0100806HP:0100806Sepsis1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA044210725602645
HP:0100806HP:0100806Sepsis1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA0144810726609907
HP:0100806HP:0100806Sepsis1SULT2B1 CL E G H6820313ORPHA083911459604125
HP:0100806HP:0100806Sepsis1TCF3 CL E G H692933110ORPHA059111633147141
HP:0100806HP:0100806Sepsis1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM0311511763190010
HP:0100806HP:0100806Sepsis1TGM1 CL E G H7051313ORPHA018929611777190195
HP:0100806HP:0100806Sepsis1WAS CL E G H7454906ORPHA044134512731300392
HP:0100806HP:0100806Sepsis1WIPF1 CL E G H7456906ORPHA0310512736602357


Genes (66) :ABCA12 ACTG2 ADA AK2 ALOX12B ALOXE3 APC ATP7A BLNK BTK CD79A CD79B CHD7 COG4 CTNNB1 CYBA CYBB CYBC1 CYP4F22 DCLRE1C ECE1 EDN3 EDNRB ELANE FERMT3 G6PC3 GALT GDNF HLA-B IGHM IGLL1 IKZF1 IL2RG IL7R ITGB4 LIG4 LIPN LMOD1 LRRC8A MMUT MNX1 MYH11 MYLK NCF1 NCF2 NCF4 NFKB2 NIPAL4 NRTN PIK3R1 PLEC RAG1 RAG2 RET RMRP SAMD9 SDR9C7 SEMA3C SEMA3D SERAC1 SULT2B1 TCF3 TFRC TGM1 WAS WIPF1

Diseases (26) :313 2241 39041 33355 267500 873 565 33110 47 379 388 2686 612840 612541 79239 36426 158684 289916 176450 293978 231154 617053 616740 906 263501 614739
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.