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:
Abnormality of the gastrointestinal tract (HP:0011024)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Fibroma (HP:0010614)

Parent Node:
Fibrosarcoma (HP:0100244)

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

..Starting node
..Desmoid tumors (HP:0100245)

Term ID:

100245

Name:

Desmoid tumors

Synonym:

Desmoid tumours

Definition:

Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.

Comments:

Reference:

HP:0100245

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ampulla of Vater carcinoma (HP:0031524)

Benign gastrointestinal tract tumors (HP:0006719)

Biliary tract neoplasm (HP:0100574)

Esophageal neoplasm (HP:0100751)

Gastrointestinal stroma tumor (HP:0100723)

Intestinal carcinoid (HP:0006723)

Intestinal polyp (HP:0005266)

Malignant gastrointestinal tract tumors (HP:0006749)

Multiple intestinal neurofibromatosis (HP:0005220)

Neoplasm of the large intestine (HP:0100834)

Neoplasm of the liver (HP:0002896)

Neoplasm of the small intestine (HP:0100833)

Neoplasm of the stomach (HP:0006753)

Primary peritoneal carcinoma (HP:0030406)

Zollinger-Ellison syndrome (HP:0002044)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100245	HP:0100245	Desmoid tumors	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0100245	HP:0100245	Desmoid tumors	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0100245	HP:0100245	Desmoid tumors	0	APC CL E G H	324	583	OMIM:135290	Desmoid disease, hereditary	HP:0040281 - Very frequent	HP:0003593 - Infantile onset	3179
HP:0100245	HP:0100245	Desmoid tumors	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		3179
HP:0100245	HP:0100245	Desmoid tumors	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional		3179
HP:0100245	HP:0100245	Desmoid tumors	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040283 - Occasional		3179
HP:0100245	HP:0100245	Desmoid tumors	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0100245	HP:0100245	Desmoid tumors	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare		385
HP:0100245	HP:0100245	Desmoid tumors	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040281 - Very frequent		88
HP:0100245	HP:0100245	Desmoid tumors	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040284 - Very rare		9
HP:0100245	HP:0100245	Desmoid tumors	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136

Genes (5) :APC BMPR1A CTNNB1 GREM1 SPRED1

Diseases (9) :OMIM:175100 ORPHA:247806 OMIM:135290 ORPHA:873 ORPHA:261584 ORPHA:79665 ORPHA:99818 ORPHA:157794 ORPHA:137605

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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