Human Phenotype Ontology 
Grandparent Node:
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Abdominal symptom (HP:0011458)help
Parent Node:
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Diarrhea (HP:0002014)help
..Starting node
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Chronic diarrhea (HP:0002028)help
Term ID: 2028
Name: Chronic diarrhea
Synonym: Chronic diarrhea; Chronic diarrhoea; Diarrhea, recurrent; Recurrent diarrhea; Recurrent diarrhoea
Definition: The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Comments:
Reference: HP:0002028
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBloody diarrhea (HP:0025085) help
..expandIntermittent diarrhea (HP:0002254) help
..expandIntractable diarrhea (HP:0002041) help
..expandProtracted diarrhea (HP:0004385) help
..expandSecretory diarrhea (HP:0005208) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002028HP:0002028Chronic diarrhea0ADA CL E G H10039041ORPHA1387186608958
HP:0002028HP:0002028Chronic diarrhea0ADA CL E G H10039041ORPHA1341186608958
HP:0002028HP:0002028Chronic diarrhea0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA124721732608041
HP:0002028HP:0002028Chronic diarrhea0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA125321732608041
HP:0002028HP:0002028Chronic diarrhea0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11003869300011
HP:0002028HP:0002028Chronic diarrhea0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1897869300011
HP:0002028HP:0002028Chronic diarrhea0B2M CL E G H567314652ORPHA139914109700
HP:0002028HP:0002028Chronic diarrhea0B2M CL E G H567314652ORPHA132914109700
HP:0002028HP:0002028Chronic diarrhea0BTK CL E G H69547ORPHA15001133300300
HP:0002028HP:0002028Chronic diarrhea0BTK CL E G H69547ORPHA15481133300300
HP:0002028HP:0002028Chronic diarrhea0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM12301509601763
HP:0002028HP:0002028Chronic diarrhea0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM11941509601763
HP:0002028HP:0002028Chronic diarrhea0CHD7 CL E G H5563639041ORPHA1175220626608892
HP:0002028HP:0002028Chronic diarrhea0CHD7 CL E G H5563639041ORPHA1198020626608892
HP:0002028HP:0002028Chronic diarrhea0CLMP CL E G H79827615237Intestinal pseudo-obstruction615237C0021847OMIM16924039611693
HP:0002028HP:0002028Chronic diarrhea0CLMP CL E G H79827615237Intestinal pseudo-obstruction615237C0021847OMIM16824039611693
HP:0002028HP:0002028Chronic diarrhea0CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM14532336120650
HP:0002028HP:0002028Chronic diarrhea0CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM13582336120650
HP:0002028HP:0002028Chronic diarrhea0DCLRE1C CL E G H6442139041ORPHA159417642605988
HP:0002028HP:0002028Chronic diarrhea0DCLRE1C CL E G H6442139041ORPHA150917642605988
HP:0002028HP:0002028Chronic diarrhea0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0002028HP:0002028Chronic diarrhea0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0002028HP:0002028Chronic diarrhea0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM122623287608451
HP:0002028HP:0002028Chronic diarrhea0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM120423287608451
HP:0002028HP:0002028Chronic diarrhea0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13974879606873
HP:0002028HP:0002028Chronic diarrhea0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13614879606873
HP:0002028HP:0002028Chronic diarrhea0IDUA CL E G H342593473ORPHA111145391252800
HP:0002028HP:0002028Chronic diarrhea0IDUA CL E G H342593473ORPHA19715391252800
HP:0002028HP:0002028Chronic diarrhea0IKBKB CL E G H3551615592Immunodeficiency 15615592C3810043OMIM12615960603258
HP:0002028HP:0002028Chronic diarrhea0IKBKB CL E G H3551615592Immunodeficiency 15615592C3810043OMIM12165960603258
HP:0002028HP:0002028Chronic diarrhea0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM1636005605384
HP:0002028HP:0002028Chronic diarrhea0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM1486005605384
HP:0002028HP:0002028Chronic diarrhea0IL21R CL E G H50615615207IL21R immunodeficiency615207C3554687OMIM12566006605383
HP:0002028HP:0002028Chronic diarrhea0IL21R CL E G H50615615207IL21R immunodeficiency615207C3554687OMIM12176006605383
HP:0002028HP:0002028Chronic diarrhea0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12436008147730
HP:0002028HP:0002028Chronic diarrhea0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM12106008147730
HP:0002028HP:0002028Chronic diarrhea0IL2RG CL E G H356139041ORPHA13706010308380
HP:0002028HP:0002028Chronic diarrhea0IL2RG CL E G H356139041ORPHA14036010308380
HP:0002028HP:0002028Chronic diarrhea0IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM14036010308380
HP:0002028HP:0002028Chronic diarrhea0IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM13706010308380
HP:0002028HP:0002028Chronic diarrhea0IL7R CL E G H357539041ORPHA13436024146661
HP:0002028HP:0002028Chronic diarrhea0IL7R CL E G H357539041ORPHA13026024146661
HP:0002028HP:0002028Chronic diarrhea0LIG4 CL E G H398139041ORPHA13886601601837
HP:0002028HP:0002028Chronic diarrhea0LIG4 CL E G H398139041ORPHA14676601601837
HP:0002028HP:0002028Chronic diarrhea0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0002028HP:0002028Chronic diarrhea0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0002028HP:0002028Chronic diarrhea0NBN CL E G H4683647ORPHA126407652602667
HP:0002028HP:0002028Chronic diarrhea0NBN CL E G H4683647ORPHA124027652602667
HP:0002028HP:0002028Chronic diarrhea0PKP1 CL E G H5317158668ORPHA12329023601975
HP:0002028HP:0002028Chronic diarrhea0PKP1 CL E G H5317158668ORPHA12299023601975
HP:0002028HP:0002028Chronic diarrhea0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM12039312601646
HP:0002028HP:0002028Chronic diarrhea0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM11359312601646
HP:0002028HP:0002028Chronic diarrhea0RAG1 CL E G H589639041ORPHA14919831179615
HP:0002028HP:0002028Chronic diarrhea0RAG1 CL E G H589639041ORPHA14269831179615
HP:0002028HP:0002028Chronic diarrhea0RAG2 CL E G H589739041ORPHA12789832179616
HP:0002028HP:0002028Chronic diarrhea0RAG2 CL E G H589739041ORPHA13259832179616
HP:0002028HP:0002028Chronic diarrhea0RMRP CL E G H602339041ORPHA160910031157660
HP:0002028HP:0002028Chronic diarrhea0RMRP CL E G H602339041ORPHA149810031157660
HP:0002028HP:0002028Chronic diarrhea0RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM119612974300951
HP:0002028HP:0002028Chronic diarrhea0RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM118412974300951
HP:0002028HP:0002028Chronic diarrhea0SAA1 CL E G H628885445ORPHA12710513104750
HP:0002028HP:0002028Chronic diarrhea0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM13681348610456
HP:0002028HP:0002028Chronic diarrhea0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM11461348610456
HP:0002028HP:0002028Chronic diarrhea0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM116910906601295
HP:0002028HP:0002028Chronic diarrhea0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM116410906601295
HP:0002028HP:0002028Chronic diarrhea0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0002028HP:0002028Chronic diarrhea0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0002028HP:0002028Chronic diarrhea0SLC5A1 CL E G H6523606824Congenital glucose-galactose malabsorption606824C0268186OMIM123011036182380
HP:0002028HP:0002028Chronic diarrhea0SLC5A1 CL E G H6523606824Congenital glucose-galactose malabsorption606824C0268186OMIM116711036182380
HP:0002028HP:0002028Chronic diarrhea0WAS CL E G H7454906ORPHA141612731300392
HP:0002028HP:0002028Chronic diarrhea0WAS CL E G H7454906ORPHA146312731300392
HP:0002028HP:0002028Chronic diarrhea0WIPF1 CL E G H7456906ORPHA119412736602357
HP:0002028HP:0002028Chronic diarrhea0WIPF1 CL E G H7456906ORPHA115812736602357
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002028HP:0002028Chronic diarrhea0CCDC47 CL E G H57003618268618268618268OMIM023248560
HP:0002028HP:0002028Chronic diarrhea0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM024718620606976
HP:0002028HP:0002028Chronic diarrhea0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM022118620606976
HP:0002028HP:0002028Chronic diarrhea0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM029718621606977
HP:0002028HP:0002028Chronic diarrhea0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM028118621606977
HP:0002028HP:0002028Chronic diarrhea0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM020413890606409
HP:0002028HP:0002028Chronic diarrhea0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM015613890606409
HP:0002028HP:0002028Chronic diarrhea0LIG4 CL E G H3981235ORPHA04676601601837
HP:0002028HP:0002028Chronic diarrhea0LIG4 CL E G H3981235ORPHA03886601601837
HP:0002028HP:0002028Chronic diarrhea0NSUN2 CL E G H54888235ORPHA038625994610916
HP:0002028HP:0002028Chronic diarrhea0NSUN2 CL E G H54888235ORPHA040125994610916
HP:0002028HP:0002028Chronic diarrhea0SON CL E G H6651500150ORPHA041911183182465
HP:0002028HP:0002028Chronic diarrhea0SON CL E G H6651500150ORPHA032211183182465
HP:0002028HP:0002028Chronic diarrhea0TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM027011763190010
HP:0002028HP:0002028Chronic diarrhea0TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM019511763190010


Genes (43) :ADA ANTXR2 ATP7A B2M BTK CASP8 CCDC47 CHD7 CLMP COG4 COG6 CR2 DCLRE1C ERCC2 ETHE1 HEXB IDUA IKBKB IL21 IL21R IL2RA IL2RG IL7R ITCH LIG4 LRBA NBN NSUN2 PKP1 PPP2R5D RAG1 RAG2 RMRP RNF113A SAA1 SAMD9 SLC10A2 SLC39A4 SLC5A1 SON TFRC WAS WIPF1

Diseases (35) :39041 2176 304150 314652 47 607271 618268 615237 613489 614576 614699 601675 602473 268800 93473 615592 615767 615207 606367 300400 613385 235 614700 647 158668 616355 300953 85445 617053 613291 37 606824 500150 616740 906
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.