Human Phenotype Ontology 
Grandparent Node:
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Abnormal inflammatory response (HP:0012647)help
Parent Node:
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Abnormal endocardium morphology (HP:0004306)help
Parent Node:
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Increased inflammatory response (HP:0012649)help
..Starting node
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Endocarditis (HP:0100584)help
Term ID: 100584
Name: Endocarditis
Synonym:
Definition: An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.
Comments:
Reference: HP:0100584
Genes and Diseases:
 
       Child Nodes:
........expandBacterial endocarditis (HP:0006689) help
........expandLibman-Sacks lesions (HP:0011714) help

 Sister Nodes: 
..expandCholangitis (HP:0030151) help
..expandChondritis (HP:0100662) help
..expandEpididymitis (HP:0000031) help
..expandFasciitis (HP:0100537) help
..expandGastrointestinal inflammation (HP:0004386) help
..expandHepatitis (HP:0012115) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandInflammatory abnormality of the skin (HP:0011123) help
..expandLymphadenitis (HP:0002840) help
..expandMeningitis (HP:0001287) help
..expandMyelitis (HP:0012486) help
..expandMyositis (HP:0100614) help
..expandNephritis (HP:0000123) help
..expandOptic neuritis (HP:0100653) help
..expandOsteomyelitis (HP:0002754) help
..expandOtitis media (HP:0000388) help
..expandPancreatitis (HP:0001733) help
..expandPanniculitis (HP:0012490) help
..expandPeriodontitis (HP:0000704) help
..expandPneumonia (HP:0002090) help
..expandProstatitis (HP:0000024) help
..expandSerositis (HP:0045073) help
..expandSinusitis (HP:0000246) help
..expandStomatitis (HP:0010280) help
..expandThyroiditis (HP:0100646) help
..expandUrinary bladder inflammation (HP:0100577) help
..expandVaginitis (HP:0030683) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100584HP:0100584Endocarditis0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100584HP:0100584Endocarditis0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100584HP:0100584Endocarditis0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100584HP:0100584Endocarditis0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0100584HP:0100584Endocarditis0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0100584HP:0100584Endocarditis0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0100584HP:0100584Endocarditis0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0100584HP:0100584Endocarditis0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0100584HP:0100584Endocarditis0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100584HP:0100584Endocarditis0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100584HP:0100584Endocarditis0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0100584HP:0100584Endocarditis0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100584HP:0100584Endocarditis0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0100584HP:0100584Endocarditis0PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxoma134
HP:0100584HP:0100584Endocarditis0PRKAR1A CL E G H55739388OMIM:255960Myxoma, intracardiac134
HP:0100584HP:0100584Endocarditis0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0100584HP:0100584Endocarditis0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0100584HP:0100584Endocarditis0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0100584HP:0011714Libman-Sacks lesions1 CL E G H
HP:0100584HP:0006689Bacterial endocarditis1GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0100584HP:0006689Bacterial endocarditis1PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxomaHP:0040283 - Occasional134
HP:0100584HP:0006689Bacterial endocarditis1PRKAR1A CL E G H55739388OMIM:255960Myxoma, intracardiac.134


Genes (17) :C4A CCR1 ERAP1 FAS GBA1 HLA-B IFNGR1 IL10 IL12A IL12A-AS1 IL23R KLRC4 MEFV PRKAR1A STAT4 TLR4 UBAC2

Diseases (4) :ORPHA:117 ORPHA:2072 ORPHA:615 OMIM:255960
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.