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:
Abdominal symptom (HP:0011458)

Parent Node:
Abnormal bowel sounds (HP:0030142)

..Starting node
..Hyperactive bowel sounds (HP:0030143)

Term ID:

30143

Name:

Hyperactive bowel sounds

Synonym:

Borborygmi; Increased bowel sounds

Definition:

Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.

Comments:

Reference:

HP:0030143

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoactive bowel sounds (HP:0030144)

Lack of bowel sounds (HP:0030145)

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:0030143	HP:0030143	Hyperactive bowel sounds	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0030143	HP:0030143	Hyperactive bowel sounds	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040283 - Occasional	74
HP:0030143	HP:0030143	Hyperactive bowel sounds	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.	74
HP:0030143	HP:0030143	Hyperactive bowel sounds	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138

Genes (3) :POLG SLC5A1 TYMP

Diseases (3) :OMIM:603041 ORPHA:35710 OMIM:606824

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