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:
Intestinal polyp (HP:0005266)

Parent Node:
Intestinal polyposis (HP:0200008)

..Starting node
..Small intestinal polyposis (HP:0030256)

Term ID:

30256

Name:

Small intestinal polyposis

Synonym:

Definition:

The presence of multiple polyps in the small intestine.

Comments:

Reference:

HP:0030256

Genes and Diseases:

Child Nodes:

........

Duodenal polyposis (HP:0004783)

Sister Nodes:

Discrete intestinal polyps (HP:0005238)

Large intestinal polyposis (HP:0030255)

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:0030256	HP:0030256	Small intestinal polyposis	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0030256	HP:0030256	Small intestinal polyposis	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0030256	HP:0030256	Small intestinal polyposis	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0030256	HP:0030256	Small intestinal polyposis	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0030256	HP:0030256	Small intestinal polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	385
HP:0030256	HP:0030256	Small intestinal polyposis	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	186
HP:0030256	HP:0030256	Small intestinal polyposis	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0030256	HP:0030256	Small intestinal polyposis	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	504
HP:0030256	HP:0004783	Duodenal polyposis	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0030256	HP:0004783	Duodenal polyposis	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	3179
HP:0030256	HP:0004783	Duodenal polyposis	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0030256	HP:0004783	Duodenal polyposis	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040282 - Frequent	3179
HP:0030256	HP:0004783	Duodenal polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	385
HP:0030256	HP:0004783	Duodenal polyposis	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	186
HP:0030256	HP:0004783	Duodenal polyposis	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0030256	HP:0004783	Duodenal polyposis	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	504

Genes (5) :APC BMPR1A ENG MSH3 SMAD4

Diseases (6) :OMIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 ORPHA:329971 OMIM:617100

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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