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

Human Phenotype Ontology

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

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Parent Node:
Abnormal intestine morphology (HP:0002242)

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..Starting node
..Intestinal perforation (HP:0031368)

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Term ID:

31368

Name:

Intestinal perforation

Synonym:

Definition:

A hole (perforation) in the wall of the intestine.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Colon perforation (HP:0031369)

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Small intestinal perforation (HP:0031370)

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Rectal perforation (HP:0031371)

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Sister Nodes:

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Abnormal large intestine morphology (HP:0002250)

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Abnormality of enteric nervous system morphology (HP:0025028)

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Abnormality of intestinal smooth muscle morphology (HP:0030935)

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Abnormality of the small intestine (HP:0002244)

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Bowel diverticulosis (HP:0005222)

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Intestinal atresia (HP:0011100)

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Intestinal bleeding (HP:0002584)

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Intestinal duplication (HP:0100668)

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Intestinal edema (HP:0005225)

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Intestinal fistula (HP:0100819)

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Intestinal hypoplasia (HP:0005245)

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Intestinal lymphangiectasia (HP:0002593)

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Intestinal lymphoid nodular hyperplasia (HP:0011956)

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Intestinal malrotation (HP:0002566)

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Intestinal obstruction (HP:0005214)

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Intestinal polyp (HP:0005266)

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Intestinal pseudo-obstruction (HP:0004389)

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Intussusception (HP:0002576)

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Malabsorption (HP:0002024)

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Multiple intestinal neurofibromatosis (HP:0005220)

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Volvulus (HP:0002580)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031368	HP:0031368	Intestinal perforation	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional			8
HP:0031368	HP:0031368	Intestinal perforation	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.			15
HP:0031368	HP:0031368	Intestinal perforation	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects				37
HP:0031368	HP:0031368	Intestinal perforation	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.			464
HP:0031368	HP:0031368	Intestinal perforation	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.			138
HP:0031368	HP:0031371	Rectal perforation	1	CL E G H
HP:0031368	HP:0031370	Small intestinal perforation	1	CL E G H
HP:0031368	HP:0031369	Colon perforation	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects				37

Genes (5) :B2M C1R GATA6 POLG TYMP

Diseases (4) :ORPHA:314652 OMIM:130080 OMIM:600001 OMIM:603041

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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