Human Phenotype Ontology 
Grandparent Node:
expand
Abdominal symptom (HP:0011458)help
Parent Node:
expand
Diarrhea (HP:0002014)help
..Starting node
..expand
Secretory diarrhea (HP:0005208)help
Term ID: 5208
Name: Secretory diarrhea
Synonym: Secretory diarrhoea
Definition: Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
Comments:
Reference: HP:0005208
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
..expandProtracted diarrhea (HP:0004385) 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:0005208HP:0005208Secretory diarrhea0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0005208HP:0005208Secretory diarrhea0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040282 - Frequent170
HP:0005208HP:0005208Secretory diarrhea0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040282 - Frequent32
HP:0005208HP:0005208Secretory diarrhea0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0005208HP:0005208Secretory diarrhea0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathyHP:0040282 - Frequent
HP:0005208HP:0005208Secretory diarrhea0PLVAP CL E G H8348313635OMIM:618183Diarrhea 10, protein-losing Enteropathy type.
HP:0005208HP:0005208Secretory diarrhea0SLC9A3 CL E G H655011073OMIM:616868Diarrhea 8, secretory sodium, congenital7
HP:0005208HP:0005208Secretory diarrhea0SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0005208HP:0005208Secretory diarrhea0SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0005208HP:0005208Secretory diarrhea0SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies.6
HP:0005208HP:0005208Secretory diarrhea0STX3 CL E G H680911438OMIM:619445DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR121
HP:0005208HP:0005208Secretory diarrhea0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE


Genes (11) :DEF6 EPCAM FOXP3 NLRC4 PERCC1 PLVAP SLC9A3 SLCO2A1 SPINT2 STX3 UNC45A

Diseases (11) :OMIM:619573 ORPHA:92050 ORPHA:37042 OMIM:616050 OMIM:618183 OMIM:616868 OMIM:167100 OMIM:614441 OMIM:270420 OMIM:619445 OMIM:619377
 

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