Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abdominal symptom (HP:0011458)

Parent Node:
Diarrhea (HP:0002014)

..Starting node
..Intermittent diarrhea (HP:0002254)

Term ID:

2254

Name:

Intermittent diarrhea

Synonym:

Episodic diarrhea; Episodic diarrhoea; Intermittent diarrhoea

Definition:

Repeated episodes of diarrhea separated by periods without diarrhea.

Comments:

Reference:

HP:0002254

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bloody diarrhea (HP:0025085)

Chronic diarrhea (HP:0002028)

Intractable diarrhea (HP:0002041)

Protracted diarrhea (HP:0004385)

Secretory diarrhea (HP:0005208)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002254	HP:0002254	Intermittent diarrhea	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional	68
HP:0002254	HP:0002254	Intermittent diarrhea	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0002254	HP:0002254	Intermittent diarrhea	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent	169
HP:0002254	HP:0002254	Intermittent diarrhea	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0002254	HP:0002254	Intermittent diarrhea	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0002254	HP:0002254	Intermittent diarrhea	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0002254	HP:0002254	Intermittent diarrhea	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0002254	HP:0002254	Intermittent diarrhea	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0002254	HP:0002254	Intermittent diarrhea	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002254	HP:0002254	Intermittent diarrhea	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0002254	HP:0002254	Intermittent diarrhea	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent	37
HP:0002254	HP:0002254	Intermittent diarrhea	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0002254	HP:0002254	Intermittent diarrhea	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0002254	HP:0002254	Intermittent diarrhea	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0002254	HP:0002254	Intermittent diarrhea	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0002254	HP:0002254	Intermittent diarrhea	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0002254	HP:0002254	Intermittent diarrhea	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0002254	HP:0002254	Intermittent diarrhea	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0002254	HP:0002254	Intermittent diarrhea	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911
HP:0002254	HP:0002254	Intermittent diarrhea	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0002254	HP:0002254	Intermittent diarrhea	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (21) :ACSF3 ATP6V0A1 ATRX BRCA1 BRCA2 CDKN2A COG4 DAXX DOCK2 G6PC1 GATA6 KRAS PALB2 PALLD POLG RABL3 SMAD4 TLK2 TP53 TYMP ZNFX1

Diseases (11) :ORPHA:289504 OMIM:619971 ORPHA:100075 ORPHA:1333 ORPHA:263501 OMIM:616433 OMIM:232200 ORPHA:2255 OMIM:603041 OMIM:618050 OMIM:619644

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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