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

..Starting node
..Abdominal cramps (HP:0032155)

Term ID:

32155

Name:

Abdominal cramps

Synonym:

Definition:

A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.

Comments:

Reference:

HP:0032155

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032155	HP:0032155	Abdominal cramps	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0032155	HP:0032155	Abdominal cramps	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0032155	HP:0032155	Abdominal cramps	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0032155	HP:0032155	Abdominal cramps	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0032155	HP:0032155	Abdominal cramps	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0032155	HP:0032155	Abdominal cramps	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0032155	HP:0032155	Abdominal cramps	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138

Genes (7) :ASXL1 CBL POLG RUNX1 SRSF2 TET2 TYMP

Diseases (2) :ORPHA:98850 OMIM:603041

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