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: |
..Bloody diarrhea (HP:0025085)
|
..Chronic diarrhea (HP:0002028)
|
..Intermittent diarrhea (HP:0002254)
|
..Intractable diarrhea (HP:0002041)
|
..Protracted diarrhea (HP:0004385)
|
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040282 - Frequent | | | 170 | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040282 - Frequent | | | 32 | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | PERCC1 CL E G H | 105371045 | 52293 | ORPHA:92050 | Congenital tufting enteropathy | HP:0040282 - Frequent | | | | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | . | | | | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | SLC9A3 CL E G H | 6550 | 11073 | OMIM:616868 | Diarrhea 8, secretory sodium, congenital | | | | 7 | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:167100 | Hypertrophic osteoarthropathy, primary, autosomal dominant | | | | 13 | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | | | | 13 | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | SPINT2 CL E G H | 10653 | 11247 | OMIM:270420 | Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies | . | | | 6 | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | STX3 CL E G H | 6809 | 11438 | OMIM:619445 | DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12 | | | | 1 | | | HP:0005208 | HP:0005208 | Secretory diarrhea | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC 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.
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