Human Phenotype Ontology

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:
Abnormality of digestive system physiology (HP:0025032)

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

..Starting node
..Bowel urgency (HP:0012701)

Term ID:

12701

Name:

Bowel urgency

Synonym:

Faecal urgency; Fecal urgency

Definition:

A sudden, irresistible need to have a bowel movement.

Comments:

Reference:

HP:0012701

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bowel incontinence (HP:0002607)

Colonic inertia (HP:0012423)

Tenesmus (HP:0012702)

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:0012701	HP:0012701	Bowel urgency	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0012701	HP:0012701	Bowel urgency	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0012701	HP:0012701	Bowel urgency	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent	13

Genes (3) :ATRX DAXX DSTYK

Diseases (2) :ORPHA:100075 ORPHA:101003

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