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:
Functional abnormality of the gastrointestinal tract (HP:0012719)

Grandparent Node:
Internal hemorrhage (HP:0011029)

Parent Node:
Abnormal intestine morphology (HP:0002242)

Parent Node:
Gastrointestinal hemorrhage (HP:0002239)

..Starting node
..Intestinal bleeding (HP:0002584)

Term ID:

2584

Name:

Intestinal bleeding

Synonym:

Intestinal bleeding; Intestinal haemorrhage; Intestinal hemorrhage

Definition:

Bleeding from the intestines.

Comments:

Reference:

HP:0002584

Genes and Diseases:

Child Nodes:

........

Small intestinal bleeding (HP:0012849)

Sister Nodes:

Hematemesis (HP:0002248)

Hematochezia (HP:0002573)

Melena (HP:0002249)

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:0002584	HP:0002584	Intestinal bleeding	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0002584	HP:0002584	Intestinal bleeding	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0002584	HP:0002584	Intestinal bleeding	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0002584	HP:0002584	Intestinal bleeding	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0002584	HP:0002584	Intestinal bleeding	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0002584	HP:0002584	Intestinal bleeding	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040282 - Frequent	78
HP:0002584	HP:0002584	Intestinal bleeding	0	TEK CL E G H	7010	11724	OMIM:600195	Venous malformations, multiple cutaneous and mucosal	.	78
HP:0002584	HP:0012849	Small intestinal bleeding	1	CL E G H

Genes (6) :APC BMPR1A CTC1 PTEN STK11 TEK

Diseases (6) :ORPHA:261584 ORPHA:79076 OMIM:612199 OMIM:175200 ORPHA:1059 OMIM:600195

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