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:
Neoplasm of the large intestine (HP:0100834)

Parent Node:
Large intestinal polyposis (HP:0030255)

Parent Node:
Neoplasm of the colon (HP:0100273)

..Starting node
..Adenomatous colonic polyposis (HP:0005227)

Term ID:

5227

Name:

Adenomatous colonic polyposis

Synonym:

Multiple adenomatous colon polyps; Multiple colonic adenomatous polyps

Definition:

Presence of multiple adenomatous polyps in the colon.

Comments:

Reference:

HP:0005227

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adenocarcinoma of the colon (HP:0040276)

Colon cancer (HP:0003003)

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:0005227	HP:0005227	Adenomatous colonic polyposis	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	3179
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040281 - Very frequent	3179
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040281 - Very frequent	3179
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040281 - Very frequent	3179
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	435
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	AXIN2 CL E G H	8313	904	OMIM:608615	OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS		435
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040280 - Obligate	385
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	BMPR1A CL E G H	657	1076	OMIM:610069	POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2		385
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	EPCAM CL E G H	4072	11529	OMIM:613244	Colorectal cancer, hereditary nonpolyposis, type 8		170
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	MBD4 CL E G H	8930	6919	OMIM:619975			1
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	5
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	MUTYH CL E G H	4595	7527	OMIM:608456	Familial adenomatous polyposis, 2	.	592
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3		2
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	2
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	731
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	1129
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040280 - Obligate	948
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040282 - Frequent	5
HP:0005227	HP:0005227	Adenomatous colonic polyposis	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504

Genes (17) :APC AXIN2 BMPR1A ENG EPCAM GREM1 MBD4 MLH1 MSH3 MUTYH NTHL1 PMS2 POLD1 POLE PTEN RNF43 SMAD4

Diseases (23) :OMIM:175100 ORPHA:247806 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:401911 OMIM:608615 ORPHA:329971 ORPHA:157794 ORPHA:79076 OMIM:610069 OMIM:613244 OMIM:619975 OMIM:276300 OMIM:617100 ORPHA:480536 OMIM:608456 ORPHA:247798 OMIM:616415 ORPHA:454840 OMIM:619101 ORPHA:447877 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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