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
..Intractable diarrhea (HP:0002041)

Term ID:

2041

Name:

Intractable diarrhea

Synonym:

Intractable diarrhoea

Definition:

Comments:

Reference:

HP:0002041

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bloody diarrhea (HP:0025085)

Chronic diarrhea (HP:0002028)

Intermittent diarrhea (HP:0002254)

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:0002041	HP:0002041	Intractable diarrhea	0	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency	.	16
HP:0002041	HP:0002041	Intractable diarrhea	0	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital	.	170
HP:0002041	HP:0002041	Intractable diarrhea	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0002041	HP:0002041	Intractable diarrhea	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0002041	HP:0002041	Intractable diarrhea	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040281 - Very frequent
HP:0002041	HP:0002041	Intractable diarrhea	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040281 - Very frequent
HP:0002041	HP:0002041	Intractable diarrhea	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002041	HP:0002041	Intractable diarrhea	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0002041	HP:0002041	Intractable diarrhea	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1

Genes (8) :C5 EPCAM ITGB4 PLEC SKIC2 SKIC3 SMARCD2 SYK

Diseases (7) :OMIM:609536 OMIM:613217 OMIM:226730 ORPHA:84064 OMIM:222470 OMIM:617475 OMIM:619381

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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