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:
Abnormal rectum morphology (HP:0002034)

Grandparent Node:
Neoplasm of the large intestine (HP:0100834)

Parent Node:
Large intestinal polyposis (HP:0030255)

Parent Node:
Neoplasm of the rectum (HP:0100743)

..Starting node
..Colorectal polyposis (HP:0200063)

Term ID:

200063

Name:

Colorectal polyposis

Synonym:

Colorectal polyps

Definition:

Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.

Comments:

Reference:

HP:0200063

Genes and Diseases:

Child Nodes:

Sister Nodes:

Rectal polyposis (HP:0100896)

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:0200063	HP:0200063	Colorectal polyposis	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0200063	HP:0200063	Colorectal polyposis	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary		3179
HP:0200063	HP:0200063	Colorectal polyposis	0	AXIN2 CL E G H	8313	904	ORPHA:401911	AXIN2-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	435
HP:0200063	HP:0200063	Colorectal polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0200063	HP:0200063	Colorectal polyposis	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0200063	HP:0200063	Colorectal polyposis	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0200063	HP:0200063	Colorectal polyposis	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent	670
HP:0200063	HP:0200063	Colorectal polyposis	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0200063	HP:0200063	Colorectal polyposis	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040282 - Frequent
HP:0200063	HP:0200063	Colorectal polyposis	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0200063	HP:0200063	Colorectal polyposis	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0200063	HP:0200063	Colorectal polyposis	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	5
HP:0200063	HP:0200063	Colorectal polyposis	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040281 - Very frequent	592
HP:0200063	HP:0200063	Colorectal polyposis	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0200063	HP:0200063	Colorectal polyposis	0	POLD1 CL E G H	5424	9175	OMIM:612591	Colorectal cancer, susceptibility to, 10	.	731
HP:0200063	HP:0200063	Colorectal polyposis	0	POLD1 CL E G H	5424	9175	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	731
HP:0200063	HP:0200063	Colorectal polyposis	0	POLE CL E G H	5426	9177	OMIM:615083	Colorectal cancer, susceptibility to, 12	.	1129
HP:0200063	HP:0200063	Colorectal polyposis	0	POLE CL E G H	5426	9177	ORPHA:447877	Polymerase proofreading-related adenomatous polyposis	HP:0040282 - Frequent	1129
HP:0200063	HP:0200063	Colorectal polyposis	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0200063	HP:0200063	Colorectal polyposis	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040281 - Very frequent	5
HP:0200063	HP:0200063	Colorectal polyposis	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0200063	HP:0200063	Colorectal polyposis	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0200063	HP:0200063	Colorectal polyposis	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0200063	HP:0200063	Colorectal polyposis	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0200063	HP:0200063	Colorectal polyposis	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0200063	HP:0200063	Colorectal polyposis	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1

Genes (24) :AKT1 APC AXIN2 BMPR1A CDKN2A CHEK2 DICER1 GREM1 KEAP1 KLLN MDM2 MSH3 MUTYH PIK3CA POLD1 POLE PTEN RNF43 SDHB SDHC SDHD SEC23B TP53 USF3

Diseases (12) :ORPHA:201 OMIM:135290 ORPHA:401911 ORPHA:157794 ORPHA:524 ORPHA:276399 ORPHA:480536 ORPHA:247798 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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