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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Protracted diarrhea (HP:0004385)help
Term ID: 4385
Name: Protracted diarrhea
Synonym: Protracted diarrhoea
Definition:
Comments:
Reference: HP:0004385
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBloody diarrhea (HP:0025085) help
..expandChronic diarrhea (HP:0002028) help
..expandIntermittent diarrhea (HP:0002254) help
..expandIntractable diarrhea (HP:0002041) help
..expandSecretory diarrhea (HP:0005208) 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:0004385HP:0004385Protracted diarrhea0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare169
HP:0004385HP:0004385Protracted diarrhea0CD247 CL E G H9191677OMIM:610163IMMUNODEFICIENCY 25; IMD258
HP:0004385HP:0004385Protracted diarrhea0CD247 CL E G H9191677ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional8
HP:0004385HP:0004385Protracted diarrhea0CD3D CL E G H9151673ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional18
HP:0004385HP:0004385Protracted diarrhea0CD3E CL E G H9161674ORPHA:169160T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaHP:0040283 - Occasional24
HP:0004385HP:0004385Protracted diarrhea0CIITA CL E G H42617067OMIM:209920Bare lymphocyte syndrome, type II.118
HP:0004385HP:0004385Protracted diarrhea0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent118
HP:0004385HP:0004385Protracted diarrhea0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare
HP:0004385HP:0004385Protracted diarrhea0MYO5B CL E G H46457603OMIM:251850Diarrhea 2, with microvillous atrophy.192
HP:0004385HP:0004385Protracted diarrhea0RAG1 CL E G H58969831ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040282 - Frequent127
HP:0004385HP:0004385Protracted diarrhea0RAG2 CL E G H58979832ORPHA:331206Severe combined immunodeficiency due to complete RAG1/2 deficiencyHP:0040282 - Frequent50
HP:0004385HP:0004385Protracted diarrhea0RFX5 CL E G H59939986OMIM:209920Bare lymphocyte syndrome, type II.38
HP:0004385HP:0004385Protracted diarrhea0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent38
HP:0004385HP:0004385Protracted diarrhea0RFXANK CL E G H86259987OMIM:209920Bare lymphocyte syndrome, type II.26
HP:0004385HP:0004385Protracted diarrhea0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent26
HP:0004385HP:0004385Protracted diarrhea0RFXAP CL E G H59949988OMIM:209920Bare lymphocyte syndrome, type II.34
HP:0004385HP:0004385Protracted diarrhea0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040282 - Frequent34
HP:0004385HP:0004385Protracted diarrhea0SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040282 - Frequent129


Genes (13) :ATRX CD247 CD3D CD3E CIITA DAXX MYO5B RAG1 RAG2 RFX5 RFXANK RFXAP SDHD

Diseases (8) :ORPHA:100075 OMIM:610163 ORPHA:169160 OMIM:209920 ORPHA:572 OMIM:251850 ORPHA:331206 ORPHA:100093
 

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