Human Phenotype Ontology

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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:
Abnormality of digestive system physiology (HP:0025032)

Parent Node:
Abnormal large intestine physiology (HP:0012700)

..Starting node
..Tenesmus (HP:0012702)

Term ID:

12702

Name:

Tenesmus

Synonym:

Definition:

A repeated, painful urge to defecate without excreting stool.

Comments:

Reference:

HP:0012702

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bowel incontinence (HP:0002607)

Bowel urgency (HP:0012701)

Colonic inertia (HP:0012423)

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:0012702	HP:0012702	Tenesmus	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291

Genes (1) :GLA

Diseases (1) :OMIM:301500

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