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:
Abnormal intestine morphology (HP:0002242)

Grandparent Node:
Neoplasm of the gastrointestinal tract (HP:0007378)

Parent Node:
Intestinal polyp (HP:0005266)

..Starting node
..Intestinal polyposis (HP:0200008)

Term ID:

200008

Name:

Intestinal polyposis

Synonym:

Gastrointestinal polyps; Growths in inner lining of intestine; Multiple intestinal polyps

Definition:

The presence of multiple polyps in the intestine.

Comments:

Reference:

HP:0200008

Genes and Diseases:

Child Nodes:

........

Discrete intestinal polyps (HP:0005238)

........

Large intestinal polyposis (HP:0030255)

................... HP:0005227 Adenomatous colonic polyposis
................... HP:0012183 Hyperplastic colonic polyposis
................... HP:0012198 Juvenile colonic polyposis
................... HP:0100896 Rectal polyposis
................... HP:0200063 Colorectal polyposis

........

Small intestinal polyposis (HP:0030256)

................... HP:0004783 Duodenal polyposis

Sister Nodes:

Hamartomatous polyposis (HP:0004390)

Inflammatory cap polyp (HP:0025198)

Small intestinal polyp (HP:0012737)

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:0200008	HP:0200008	Intestinal polyposis	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	135
HP:0200008	HP:0200008	Intestinal polyposis	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0200008	HP:0200008	Intestinal polyposis	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0200008	HP:0200008	Intestinal polyposis	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0200008	HP:0200008	Intestinal polyposis	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0200008	HP:0200008	Intestinal polyposis	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0200008	HP:0200008	Intestinal polyposis	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent	3179
HP:0200008	HP:0200008	Intestinal polyposis	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0200008	HP:0200008	Intestinal polyposis	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0200008	HP:0200008	Intestinal polyposis	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040282 - Frequent	3179
HP:0200008	HP:0200008	Intestinal polyposis	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	192
HP:0200008	HP:0200008	Intestinal polyposis	0	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis		435
HP:0200008	HP:0200008	Intestinal polyposis	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0200008	HP:0200008	Intestinal polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0200008	HP:0200008	Intestinal polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0200008	HP:0200008	Intestinal polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0200008	HP:0200008	Intestinal polyposis	0	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0200008	HP:0200008	Intestinal polyposis	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0200008	HP:0200008	Intestinal polyposis	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0200008	HP:0200008	Intestinal polyposis	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0200008	HP:0200008	Intestinal polyposis	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0200008	HP:0200008	Intestinal polyposis	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0200008	HP:0200008	Intestinal polyposis	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0200008	HP:0200008	Intestinal polyposis	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent	88
HP:0200008	HP:0200008	Intestinal polyposis	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0200008	HP:0200008	Intestinal polyposis	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	13
HP:0200008	HP:0200008	Intestinal polyposis	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	67
HP:0200008	HP:0200008	Intestinal polyposis	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	55
HP:0200008	HP:0200008	Intestinal polyposis	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0200008	HP:0200008	Intestinal polyposis	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0200008	HP:0200008	Intestinal polyposis	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0200008	HP:0200008	Intestinal polyposis	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0200008	HP:0200008	Intestinal polyposis	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	77
HP:0200008	HP:0200008	Intestinal polyposis	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	12
HP:0200008	HP:0200008	Intestinal polyposis	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0200008	HP:0200008	Intestinal polyposis	0	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0200008	HP:0200008	Intestinal polyposis	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0200008	HP:0200008	Intestinal polyposis	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	59
HP:0200008	HP:0200008	Intestinal polyposis	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0200008	HP:0200008	Intestinal polyposis	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0200008	HP:0200008	Intestinal polyposis	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0200008	HP:0200008	Intestinal polyposis	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0200008	HP:0200008	Intestinal polyposis	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0200008	HP:0200008	Intestinal polyposis	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0200008	HP:0200008	Intestinal polyposis	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0200008	HP:0200008	Intestinal polyposis	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0200008	HP:0200008	Intestinal polyposis	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0200008	HP:0200008	Intestinal polyposis	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0200008	HP:0200008	Intestinal polyposis	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0200008	HP:0200008	Intestinal polyposis	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0200008	HP:0200008	Intestinal polyposis	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0200008	HP:0200008	Intestinal polyposis	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0200008	HP:0200008	Intestinal polyposis	0	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2		592
HP:0200008	HP:0200008	Intestinal polyposis	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis		592
HP:0200008	HP:0200008	Intestinal polyposis	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	4
HP:0200008	HP:0200008	Intestinal polyposis	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0200008	HP:0200008	Intestinal polyposis	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0200008	HP:0200008	Intestinal polyposis	0	PDGFRA CL E G H	5156	8803	OMIM:175510	Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial	.	337
HP:0200008	HP:0200008	Intestinal polyposis	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0200008	HP:0200008	Intestinal polyposis	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0200008	HP:0200008	Intestinal polyposis	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0200008	HP:0200008	Intestinal polyposis	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0200008	HP:0200008	Intestinal polyposis	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0200008	HP:0200008	Intestinal polyposis	0	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10		731
HP:0200008	HP:0200008	Intestinal polyposis	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0200008	HP:0200008	Intestinal polyposis	0	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12		1129
HP:0200008	HP:0200008	Intestinal polyposis	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0200008	HP:0200008	Intestinal polyposis	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040281 - Very frequent	948
HP:0200008	HP:0200008	Intestinal polyposis	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0200008	HP:0200008	Intestinal polyposis	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0200008	HP:0200008	Intestinal polyposis	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	572
HP:0200008	HP:0200008	Intestinal polyposis	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome		5
HP:0200008	HP:0200008	Intestinal polyposis	0	RNF43 CL E G H	54894	18505	OMIM:617108	Sessile serrated polyposis cancer syndrome		5
HP:0200008	HP:0200008	Intestinal polyposis	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0200008	HP:0200008	Intestinal polyposis	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0200008	HP:0200008	Intestinal polyposis	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0200008	HP:0200008	Intestinal polyposis	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0200008	HP:0200008	Intestinal polyposis	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7	.	60
HP:0200008	HP:0200008	Intestinal polyposis	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	1
HP:0200008	HP:0200008	Intestinal polyposis	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	2
HP:0200008	HP:0200008	Intestinal polyposis	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0200008	HP:0200008	Intestinal polyposis	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0200008	HP:0200008	Intestinal polyposis	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	22
HP:0200008	HP:0200008	Intestinal polyposis	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	1
HP:0200008	HP:0200008	Intestinal polyposis	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0200008	HP:0200008	Intestinal polyposis	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0200008	HP:0200008	Intestinal polyposis	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0200008	HP:0200008	Intestinal polyposis	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0200008	HP:0005238	Discrete intestinal polyps	1	CL E G H
HP:0200008	HP:0030255	Large intestinal polyposis	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome		54
HP:0200008	HP:0030256	Small intestinal polyposis	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0200008	HP:0030255	Large intestinal polyposis	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0200008	HP:0030256	Small intestinal polyposis	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0200008	HP:0030255	Large intestinal polyposis	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0200008	HP:0030255	Large intestinal polyposis	1	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0200008	HP:0030256	Small intestinal polyposis	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0200008	HP:0030255	Large intestinal polyposis	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0200008	HP:0030256	Small intestinal polyposis	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0200008	HP:0030255	Large intestinal polyposis	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0200008	HP:0030255	Large intestinal polyposis	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0200008	HP:0030255	Large intestinal polyposis	1	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis		435
HP:0200008	HP:0030255	Large intestinal polyposis	1	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0200008	HP:0030255	Large intestinal polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0200008	HP:0030256	Small intestinal polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	385
HP:0200008	HP:0030255	Large intestinal polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0200008	HP:0030255	Large intestinal polyposis	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0200008	HP:0030255	Large intestinal polyposis	1	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0200008	HP:0030255	Large intestinal polyposis	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0200008	HP:0030255	Large intestinal polyposis	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0200008	HP:0030255	Large intestinal polyposis	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0200008	HP:0030256	Small intestinal polyposis	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	186
HP:0200008	HP:0030255	Large intestinal polyposis	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0200008	HP:0030255	Large intestinal polyposis	1	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0200008	HP:0030255	Large intestinal polyposis	1	FLCN CL E G H	201163	27310	OMIM:135150	Birt-Hogg-Dube syndrome		332
HP:0200008	HP:0030255	Large intestinal polyposis	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0200008	HP:0030255	Large intestinal polyposis	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0200008	HP:0030255	Large intestinal polyposis	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome		1
HP:0200008	HP:0030255	Large intestinal polyposis	1	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0200008	HP:0030255	Large intestinal polyposis	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0200008	HP:0030255	Large intestinal polyposis	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0200008	HP:0030255	Large intestinal polyposis	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0200008	HP:0030256	Small intestinal polyposis	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0200008	HP:0030255	Large intestinal polyposis	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0200008	HP:0030255	Large intestinal polyposis	1	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2		592
HP:0200008	HP:0030255	Large intestinal polyposis	1	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0200008	HP:0030255	Large intestinal polyposis	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0200008	HP:0030255	Large intestinal polyposis	1	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis		2
HP:0200008	HP:0030255	Large intestinal polyposis	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome		162
HP:0200008	HP:0030255	Large intestinal polyposis	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0200008	HP:0030255	Large intestinal polyposis	1	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10		731
HP:0200008	HP:0030255	Large intestinal polyposis	1	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		731
HP:0200008	HP:0030255	Large intestinal polyposis	1	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12		1129
HP:0200008	HP:0030255	Large intestinal polyposis	1	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis		1129
HP:0200008	HP:0030255	Large intestinal polyposis	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome		948
HP:0200008	HP:0030255	Large intestinal polyposis	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0200008	HP:0030255	Large intestinal polyposis	1	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome		5
HP:0200008	HP:0032222	Serrated intestinal polyps	1	RNF43 CL E G H	54894	18505	OMIM:617108	Sessile serrated polyposis cancer syndrome		5
HP:0200008	HP:0030255	Large intestinal polyposis	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome		237
HP:0200008	HP:0030255	Large intestinal polyposis	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome		147
HP:0200008	HP:0030255	Large intestinal polyposis	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome		129
HP:0200008	HP:0030255	Large intestinal polyposis	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome		60
HP:0200008	HP:0030255	Large intestinal polyposis	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0200008	HP:0030256	Small intestinal polyposis	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	504
HP:0200008	HP:0030255	Large intestinal polyposis	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0200008	HP:0030255	Large intestinal polyposis	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome		1
HP:0200008	HP:0200063	Colorectal polyposis	2	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0200008	HP:0004783	Duodenal polyposis	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	3179
HP:0200008	HP:0004783	Duodenal polyposis	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	3179
HP:0200008	HP:0200063	Colorectal polyposis	2	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0200008	HP:0004783	Duodenal polyposis	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040281 - Very frequent	3179
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040281 - Very frequent	3179
HP:0200008	HP:0004783	Duodenal polyposis	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040282 - Frequent	3179
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040281 - Very frequent	3179
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	435
HP:0200008	HP:0200063	Colorectal polyposis	2	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	435
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0200008	HP:0100896	Rectal polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0200008	HP:0004783	Duodenal polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	385
HP:0200008	HP:0012183	Hyperplastic colonic polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040281 - Very frequent	385
HP:0200008	HP:0100896	Rectal polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0200008	HP:0012198	Juvenile colonic polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0200008	HP:0200063	Colorectal polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040280 - Obligate	385
HP:0200008	HP:0012198	Juvenile colonic polyposis	2	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0200008	HP:0012183	Hyperplastic colonic polyposis	2	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0200008	HP:0200063	Colorectal polyposis	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0200008	HP:0200063	Colorectal polyposis	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0200008	HP:0200063	Colorectal polyposis	2	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent	670
HP:0200008	HP:0004783	Duodenal polyposis	2	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	186
HP:0200008	HP:0100896	Rectal polyposis	2	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0200008	HP:0200063	Colorectal polyposis	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0200008	HP:0012198	Juvenile colonic polyposis	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0200008	HP:0100896	Rectal polyposis	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0200008	HP:0012183	Hyperplastic colonic polyposis	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040281 - Very frequent	9
HP:0200008	HP:0200063	Colorectal polyposis	2	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent
HP:0200008	HP:0200063	Colorectal polyposis	2	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0200008	HP:0200063	Colorectal polyposis	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0200008	HP:0004783	Duodenal polyposis	2	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	5
HP:0200008	HP:0200063	Colorectal polyposis	2	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	5
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2	.	592
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0200008	HP:0200063	Colorectal polyposis	2	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	592
HP:0200008	HP:0100896	Rectal polyposis	2	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	2
HP:0200008	HP:0200063	Colorectal polyposis	2	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0200008	HP:0200063	Colorectal polyposis	2	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10	.	731
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	731
HP:0200008	HP:0200063	Colorectal polyposis	2	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	731
HP:0200008	HP:0200063	Colorectal polyposis	2	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12	.	1129
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	1129
HP:0200008	HP:0200063	Colorectal polyposis	2	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	1129
HP:0200008	HP:0200063	Colorectal polyposis	2	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040280 - Obligate	948
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040282 - Frequent	5
HP:0200008	HP:0200063	Colorectal polyposis	2	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040281 - Very frequent	5
HP:0200008	HP:0200063	Colorectal polyposis	2	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0200008	HP:0200063	Colorectal polyposis	2	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0200008	HP:0200063	Colorectal polyposis	2	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0200008	HP:0200063	Colorectal polyposis	2	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0200008	HP:0005227	Adenomatous colonic polyposis	2	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504
HP:0200008	HP:0004783	Duodenal polyposis	2	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040284 - Very rare	504
HP:0200008	HP:0100896	Rectal polyposis	2	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504
HP:0200008	HP:0200063	Colorectal polyposis	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0200008	HP:0200063	Colorectal polyposis	2	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1

Genes (63) :ABCD1 ACVRL1 AKT1 APC ATP7A AXIN2 BMPR1A BUB1 BUB1B BUB3 CDKN2A CEP57 CHEK2 CTNNB1 DICER1 ECE1 EDN3 EDNRB ENG EPCAM ERBB2 ERBB3 FAN1 FLCN GDF2 GDNF GNAS GREM1 KEAP1 KLLN KRAS MBD4 MDM2 MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NRTN NTHL1 PDGFRA PIK3CA PMS1 PMS2 POLD1 POLE PTEN RET RNF43 SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SMAD4 SMO SREBF1 TGFBR2 TP53 TRIP13 USF3

Diseases (40) :ORPHA:388 ORPHA:774 ORPHA:201 OMIM:175100 ORPHA:247806 OMIM:135290 ORPHA:873 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:401911 OMIM:608615 ORPHA:329971 ORPHA:157794 ORPHA:79076 OMIM:610069 ORPHA:1052 ORPHA:524 ORPHA:276399 OMIM:613244 ORPHA:144 OMIM:135150 OMIM:174800 OMIM:619975 OMIM:276300 OMIM:617100 ORPHA:480536 OMIM:608456 ORPHA:247798 OMIM:616415 ORPHA:454840 OMIM:175510 OMIM:619101 OMIM:612591 ORPHA:447877 OMIM:615083 ORPHA:109 ORPHA:157798 OMIM:617108 OMIM:616858

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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