Human Phenotype Ontology 
Grandparent Node:
expand
Abdominal symptom (HP:0011458)help
Parent Node:
expand
Diarrhea (HP:0002014)help
..Starting node
..expand
Chronic diarrhea (HP:0002028)help
Term ID: 2028
Name: Chronic diarrhea
Synonym: Chronic diarrhea; Diarrhea, recurrent; Recurrent diarrhea
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 H10039041ORPHA196215186608958
HP:0002028HP:0002028Chronic diarrhea0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA14820421732608041
HP:0002028HP:0002028Chronic diarrhea0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1357607869300011
HP:0002028HP:0002028Chronic diarrhea0B2M CL E G H567314652ORPHA1424914109700
HP:0002028HP:0002028Chronic diarrhea0BTK CL E G H69547ORPHA19104211133300300
HP:0002028HP:0002028Chronic diarrhea0CASP8 CL E G H841607271Caspase-8 deficiency607271C1846545OMIM1121391509601763
HP:0002028HP:0002028Chronic diarrhea0CHD7 CL E G H5563639041ORPHA1884126620626608892
HP:0002028HP:0002028Chronic diarrhea0CLMP CL E G H79827615237Intestinal pseudo-obstruction615237C0021847OMIM1136624039611693
HP:0002028HP:0002028Chronic diarrhea0CR2 CL E G H1380614699Common variable immunodeficiency 7614699C3542922OMIM1192332336120650
HP:0002028HP:0002028Chronic diarrhea0DCLRE1C CL E G H6442139041ORPHA19131817642605988
HP:0002028HP:0002028Chronic diarrhea0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM11082273434126340
HP:0002028HP:0002028Chronic diarrhea0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM13712723287608451
HP:0002028HP:0002028Chronic diarrhea0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11262184879606873
HP:0002028HP:0002028Chronic diarrhea0IDUA CL E G H342593473ORPHA12916225391252800
HP:0002028HP:0002028Chronic diarrhea0IKBKB CL E G H3551615592Immunodeficiency 15615592C3810043OMIM171515960603258
HP:0002028HP:0002028Chronic diarrhea0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0002028HP:0002028Chronic diarrhea0IL21R CL E G H50615615207IL21R immunodeficiency615207C3554687OMIM1101526006605383
HP:0002028HP:0002028Chronic diarrhea0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM1191766008147730
HP:0002028HP:0002028Chronic diarrhea0IL2RG CL E G H356139041ORPHA12502716010308380
HP:0002028HP:0002028Chronic diarrhea0IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM12502716010308380
HP:0002028HP:0002028Chronic diarrhea0IL7R CL E G H357539041ORPHA1592406024146661
HP:0002028HP:0002028Chronic diarrhea0LIG4 CL E G H398139041ORPHA1403176601601837
HP:0002028HP:0002028Chronic diarrhea0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM1686311742606453
HP:0002028HP:0002028Chronic diarrhea0NBN CL E G H4683647ORPHA114820457652602667
HP:0002028HP:0002028Chronic diarrhea0PKP1 CL E G H5317158668ORPHA1181789023601975
HP:0002028HP:0002028Chronic diarrhea0PPP2R5D CL E G H5528616355Mental retardation, autosomal dominant 35616355C4225354OMIM111419312601646
HP:0002028HP:0002028Chronic diarrhea0RAG1 CL E G H589639041ORPHA11873349831179615
HP:0002028HP:0002028Chronic diarrhea0RAG2 CL E G H589739041ORPHA1841759832179616
HP:0002028HP:0002028Chronic diarrhea0RMRP CL E G H602339041ORPHA112341110031157660
HP:0002028HP:0002028Chronic diarrhea0RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1117412974300951
HP:0002028HP:0002028Chronic diarrhea0SAA1 CL E G H628885445ORPHA132410513104750
HP:0002028HP:0002028Chronic diarrhea0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
HP:0002028HP:0002028Chronic diarrhea0SLC10A2 CL E G H6555613291Bile acid malabsorption, primary613291C2750087OMIM1916010906601295
HP:0002028HP:0002028Chronic diarrhea0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA15223617129607059
HP:0002028HP:0002028Chronic diarrhea0SLC5A1 CL E G H6523606824Congenital glucose-galactose malabsorption606824C0268186OMIM16114611036182380
HP:0002028HP:0002028Chronic diarrhea0WAS CL E G H7454906ORPHA144134512731300392
HP:0002028HP:0002028Chronic diarrhea0WIPF1 CL E G H7456906ORPHA1310512736602357
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002028HP:0002028Chronic diarrhea0CCDC47 CL E G H57003618268618268618268OMIM0520248560
HP:0002028HP:0002028Chronic diarrhea0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM0614118620606976
HP:0002028HP:0002028Chronic diarrhea0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM01018918621606977
HP:0002028HP:0002028Chronic diarrhea0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM029013890606409
HP:0002028HP:0002028Chronic diarrhea0LIG4 CL E G H3981235ORPHA0403176601601837
HP:0002028HP:0002028Chronic diarrhea0NSUN2 CL E G H54888235ORPHA0726025994610916
HP:0002028HP:0002028Chronic diarrhea0SON CL E G H6651500150ORPHA02822411183182465
HP:0002028HP:0002028Chronic diarrhea0TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM0311511763190010


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 June 2019 release.