Human Phenotype Ontology

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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:
Morphological abnormality of the gastrointestinal tract (HP:0012718)

Parent Node:
Abnormal intestine morphology (HP:0002242)

..Starting node
..Intussusception (HP:0002576)

Term ID:

2576

Name:

Intussusception

Synonym:

Definition:

An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.

Comments:

Reference:

HP:0002576

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal large intestine morphology (HP:0002250)

Abnormality of enteric nervous system morphology (HP:0025028)

Abnormality of intestinal smooth muscle morphology (HP:0030935)

Abnormality of the small intestine (HP:0002244)

Bowel diverticulosis (HP:0005222)

Intestinal atresia (HP:0011100)

Intestinal bleeding (HP:0002584)

Intestinal duplication (HP:0100668)

Intestinal edema (HP:0005225)

Intestinal fistula (HP:0100819)

Intestinal hypoplasia (HP:0005245)

Intestinal lymphangiectasia (HP:0002593)

Intestinal lymphoid nodular hyperplasia (HP:0011956)

Intestinal malrotation (HP:0002566)

Intestinal obstruction (HP:0005214)

Intestinal perforation (HP:0031368)

Intestinal polyp (HP:0005266)

Intestinal pseudo-obstruction (HP:0004389)

Malabsorption (HP:0002024)

Multiple intestinal neurofibromatosis (HP:0005220)

Volvulus (HP:0002580)

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:0002576	HP:0002576	Intussusception	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002576	HP:0002576	Intussusception	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	385
HP:0002576	HP:0002576	Intussusception	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0002576	HP:0002576	Intussusception	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome	HP:0040283 - Occasional	385
HP:0002576	HP:0002576	Intussusception	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040283 - Occasional	9
HP:0002576	HP:0002576	Intussusception	0	PDGFRA CL E G H	5156	8803	OMIM:175510	Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial	.	337
HP:0002576	HP:0002576	Intussusception	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0002576	HP:0002576	Intussusception	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome	HP:0040283 - Occasional	504
HP:0002576	HP:0002576	Intussusception	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0002576	HP:0002576	Intussusception	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0002576	HP:0002576	Intussusception	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002576	HP:0033309	Ileoileal intussusception	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE

Genes (9) :ARID1B BMPR1A GREM1 PDGFRA PTEN SMAD4 STAT1 STK11 UNC45A

Diseases (8) :OMIM:135900 ORPHA:157794 ORPHA:79076 OMIM:174900 OMIM:175510 OMIM:614162 OMIM:175200 OMIM:619377

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

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