Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the gastrointestinal tract (HP:0011024)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Fibroma (HP:0010614)help
Parent Node:
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Fibrosarcoma (HP:0100244)help
Parent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
..Starting node
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Desmoid tumors (HP:0100245)help
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: 
..expandAmpulla of Vater carcinoma (HP:0031524) help
..expandBenign gastrointestinal tract tumors (HP:0006719) help
..expandBiliary tract neoplasm (HP:0100574) help
..expandEsophageal neoplasm (HP:0100751) help
..expandGastrointestinal stroma tumor (HP:0100723) help
..expandIntestinal carcinoid (HP:0006723) help
..expandIntestinal polyp (HP:0005266) help
..expandMalignant gastrointestinal tract tumors (HP:0006749) help
..expandMultiple intestinal neurofibromatosis (HP:0005220) help
..expandNeoplasm of the large intestine (HP:0100834) help
..expandNeoplasm of the liver (HP:0002896) help
..expandNeoplasm of the small intestine (HP:0100833) help
..expandNeoplasm of the stomach (HP:0006753) help
..expandPrimary peritoneal carcinoma (HP:0030406) help
..expandZollinger-Ellison syndrome (HP:0002044) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100245HP:0100245Desmoid tumors0APC CL E G H324873Bethlem myopathyC1834674ORPHA19963583611731
HP:0100245HP:0100245Desmoid tumors0APC CL E G H324873Bethlem myopathyC1834674ORPHA19051583611731
HP:0100245HP:0100245Desmoid tumors0APC CL E G H324135290Desmoid disease, hereditary135290C1851124OMIM19963583611731
HP:0100245HP:0100245Desmoid tumors0APC CL E G H324135290Desmoid disease, hereditary135290C1851124OMIM19051583611731
HP:0100245HP:0100245Desmoid tumors0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA12692514116806
HP:0100245HP:0100245Desmoid tumors0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA13642514116806
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100245HP:0100245Desmoid tumors0APC CL E G H324247806ORPHA09051583611731
HP:0100245HP:0100245Desmoid tumors0APC CL E G H32479665ORPHA09963583611731
HP:0100245HP:0100245Desmoid tumors0APC CL E G H324261584ORPHA09963583611731
HP:0100245HP:0100245Desmoid tumors0APC CL E G H32479665ORPHA09051583611731
HP:0100245HP:0100245Desmoid tumors0APC CL E G H324261584ORPHA09051583611731
HP:0100245HP:0100245Desmoid tumors0APC CL E G H324247806ORPHA09963583611731
HP:0100245HP:0100245Desmoid tumors0APC CL E G H324175100Familial adenomatous polyposis 1175100C2713442OMIM09051583611731
HP:0100245HP:0100245Desmoid tumors0APC CL E G H324175100Familial adenomatous polyposis 1175100C2713442OMIM09963583611731


Genes (2) :APC CTNNB1

Diseases (6) :261584 79665 247806 873 135290 175100
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.