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
..Large intestinal polyposis (HP:0030255)

Term ID:

30255

Name:

Large intestinal polyposis

Synonym:

Definition:

The presence of multiple polyps in the large intestine.

Comments:

Reference:

HP:0030255

Genes and Diseases:

Child Nodes:

........

Adenomatous colonic polyposis (HP:0005227)

........

Hyperplastic colonic polyposis (HP:0012183)

........

Juvenile colonic polyposis (HP:0012198)

........

Rectal polyposis (HP:0100896)

........

Colorectal polyposis (HP:0200063)

Sister Nodes:

Discrete intestinal polyps (HP:0005238)

Small intestinal polyposis (HP:0030256)

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:0030255	HP:0030255	Large intestinal polyposis	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0030255	HP:0030255	Large intestinal polyposis	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0030255	HP:0030255	Large intestinal polyposis	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0030255	HP:0030255	Large intestinal polyposis	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0030255	HP:0030255	Large intestinal polyposis	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0030255	HP:0030255	Large intestinal polyposis	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0030255	HP:0030255	Large intestinal polyposis	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0030255	HP:0030255	Large intestinal polyposis	0	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis		435
HP:0030255	HP:0030255	Large intestinal polyposis	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0030255	HP:0030255	Large intestinal polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0030255	HP:0030255	Large intestinal polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0030255	HP:0030255	Large intestinal polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0030255	HP:0030255	Large intestinal polyposis	0	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0030255	HP:0030255	Large intestinal polyposis	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0030255	HP:0030255	Large intestinal polyposis	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0030255	HP:0030255	Large intestinal polyposis	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0030255	HP:0030255	Large intestinal polyposis	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0030255	HP:0030255	Large intestinal polyposis	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0030255	HP:0030255	Large intestinal polyposis	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0030255	HP:0030255	Large intestinal polyposis	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0030255	HP:0030255	Large intestinal polyposis	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0030255	HP:0030255	Large intestinal polyposis	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0030255	HP:0030255	Large intestinal polyposis	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0030255	HP:0030255	Large intestinal polyposis	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0030255	HP:0030255	Large intestinal polyposis	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0030255	HP:0030255	Large intestinal polyposis	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0030255	HP:0030255	Large intestinal polyposis	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0030255	HP:0030255	Large intestinal polyposis	0	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2		592
HP:0030255	HP:0030255	Large intestinal polyposis	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0030255	HP:0030255	Large intestinal polyposis	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0030255	HP:0030255	Large intestinal polyposis	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0030255	HP:0030255	Large intestinal polyposis	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0030255	HP:0030255	Large intestinal polyposis	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0030255	HP:0030255	Large intestinal polyposis	0	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10		731
HP:0030255	HP:0030255	Large intestinal polyposis	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0030255	HP:0030255	Large intestinal polyposis	0	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12		1129
HP:0030255	HP:0030255	Large intestinal polyposis	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0030255	HP:0030255	Large intestinal polyposis	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0030255	HP:0030255	Large intestinal polyposis	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0030255	HP:0030255	Large intestinal polyposis	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome		5
HP:0030255	HP:0030255	Large intestinal polyposis	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0030255	HP:0030255	Large intestinal polyposis	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0030255	HP:0030255	Large intestinal polyposis	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0030255	HP:0030255	Large intestinal polyposis	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0030255	HP:0030255	Large intestinal polyposis	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0030255	HP:0030255	Large intestinal polyposis	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0030255	HP:0030255	Large intestinal polyposis	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0030255	HP:0200063	Colorectal polyposis	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	3179
HP:0030255	HP:0200063	Colorectal polyposis	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040281 - Very frequent	3179
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040281 - Very frequent	3179
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040281 - Very frequent	3179
HP:0030255	HP:0200063	Colorectal polyposis	1	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	435
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	435
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0030255	HP:0100896	Rectal polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0030255	HP:0200063	Colorectal polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0030255	HP:0012198	Juvenile colonic polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0030255	HP:0012183	Hyperplastic colonic polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040281 - Very frequent	385
HP:0030255	HP:0100896	Rectal polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040280 - Obligate	385
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0030255	HP:0012183	Hyperplastic colonic polyposis	1	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0030255	HP:0012198	Juvenile colonic polyposis	1	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0030255	HP:0200063	Colorectal polyposis	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0030255	HP:0200063	Colorectal polyposis	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0030255	HP:0200063	Colorectal polyposis	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent	670
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0030255	HP:0100896	Rectal polyposis	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0030255	HP:0012198	Juvenile colonic polyposis	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0030255	HP:0100896	Rectal polyposis	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0030255	HP:0200063	Colorectal polyposis	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0030255	HP:0012183	Hyperplastic colonic polyposis	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040281 - Very frequent	9
HP:0030255	HP:0200063	Colorectal polyposis	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent
HP:0030255	HP:0200063	Colorectal polyposis	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0030255	HP:0200063	Colorectal polyposis	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0030255	HP:0200063	Colorectal polyposis	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	5
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	5
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2	.	592
HP:0030255	HP:0200063	Colorectal polyposis	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	592
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0030255	HP:0100896	Rectal polyposis	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	2
HP:0030255	HP:0200063	Colorectal polyposis	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0030255	HP:0200063	Colorectal polyposis	1	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10	.	731
HP:0030255	HP:0200063	Colorectal polyposis	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	731
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	731
HP:0030255	HP:0200063	Colorectal polyposis	1	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12	.	1129
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	1129
HP:0030255	HP:0200063	Colorectal polyposis	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	1129
HP:0030255	HP:0200063	Colorectal polyposis	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040280 - Obligate	948
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040282 - Frequent	5
HP:0030255	HP:0200063	Colorectal polyposis	1	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040281 - Very frequent	5
HP:0030255	HP:0200063	Colorectal polyposis	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0030255	HP:0200063	Colorectal polyposis	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0030255	HP:0200063	Colorectal polyposis	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0030255	HP:0200063	Colorectal polyposis	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0030255	HP:0005227	Adenomatous colonic polyposis	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504
HP:0030255	HP:0100896	Rectal polyposis	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504
HP:0030255	HP:0200063	Colorectal polyposis	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0030255	HP:0200063	Colorectal polyposis	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1

Genes (32) :AKT1 APC AXIN2 BMPR1A CDKN2A CHEK2 DICER1 ENG EPCAM FLCN GREM1 KEAP1 KLLN MBD4 MDM2 MLH1 MSH3 MUTYH NTHL1 PIK3CA PMS2 POLD1 POLE PTEN RNF43 SDHB SDHC SDHD SEC23B SMAD4 TP53 USF3

Diseases (30) :ORPHA:201 OMIM:175100 ORPHA:247806 OMIM:135290 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:401911 OMIM:608615 ORPHA:329971 ORPHA:157794 ORPHA:79076 OMIM:610069 ORPHA:524 ORPHA:276399 OMIM:613244 OMIM:135150 OMIM:619975 OMIM:276300 OMIM:617100 ORPHA:480536 OMIM:608456 ORPHA:247798 OMIM:616415 ORPHA:454840 OMIM:619101 OMIM:612591 ORPHA:447877 OMIM:615083 ORPHA:157798

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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