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 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
..Rectal polyposis (HP:0100896)

Term ID:

100896

Name:

Rectal polyposis

Synonym:

Multiple rectal polyps; Rectal polyps

Definition:

The presence of multiple rectal hyperplastic/adenomatous polyps.

Comments:

Reference:

HP:0100896

Genes and Diseases:

Child Nodes:

Sister Nodes:

Colorectal polyposis (HP:0200063)

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:0100896	HP:0100896	Rectal polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0100896	HP:0100896	Rectal polyposis	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	385
HP:0100896	HP:0100896	Rectal polyposis	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0100896	HP:0100896	Rectal polyposis	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040282 - Frequent	9
HP:0100896	HP:0100896	Rectal polyposis	0	MUTYH CL E G H	4595	7527	ORPHA:247798	MUTYH-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	592
HP:0100896	HP:0100896	Rectal polyposis	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504

Genes (5) :BMPR1A ENG GREM1 MUTYH SMAD4

Diseases (3) :ORPHA:329971 ORPHA:157794 ORPHA:247798

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.