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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Neoplasm of the gastrointestinal tract (HP:0007378)help
..Starting node
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Gastrointestinal stroma tumor (HP:0100723)help
Term ID: 100723
Name: Gastrointestinal stroma tumor
Synonym: Gastrointestinal stroma tumour; Gastrointestinal stromal tumor; Gastrointestinal stromal tumors; Gastrointestinal stromal tumour; Gastrointestinal stromal tumours; GI stroma tumor; GI stroma tumour; GIST
Definition:
Comments:
Reference: HP:0100723
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
..expandDesmoid tumors (HP:0100245) help
..expandEsophageal neoplasm (HP:0100751) 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:0100723HP:0100723Gastrointestinal stroma tumor0KIT CL E G H381544890ORPHA117356342164920
HP:0100723HP:0100723Gastrointestinal stroma tumor0KIT CL E G H381544890ORPHA114906342164920
HP:0100723HP:0100723Gastrointestinal stroma tumor0KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM117356342164920
HP:0100723HP:0100723Gastrointestinal stroma tumor0KIT CL E G H3815606764Gastrointestinal stroma tumor606764C0238198OMIM114906342164920
HP:0100723HP:0100723Gastrointestinal stroma tumor0PDGFRA CL E G H515644890ORPHA119298803173490
HP:0100723HP:0100723Gastrointestinal stroma tumor0PDGFRA CL E G H515644890ORPHA116808803173490
HP:0100723HP:0100723Gastrointestinal stroma tumor0PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM119298803173490
HP:0100723HP:0100723Gastrointestinal stroma tumor0PDGFRA CL E G H5156606764Gastrointestinal stroma tumor606764C0238198OMIM116808803173490
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHA CL E G H638944890ORPHA1177810680600857
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHA CL E G H638944890ORPHA1154510680600857
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHB CL E G H639044890ORPHA192610681185470
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHB CL E G H639097286ORPHA192610681185470
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHB CL E G H639044890ORPHA182410681185470
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHB CL E G H639097286ORPHA182410681185470
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM192610681185470
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHB CL E G H6390606764Gastrointestinal stroma tumor606764C0238198OMIM182410681185470
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHC CL E G H639144890ORPHA157510682602413
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHC CL E G H639197286ORPHA157510682602413
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHC CL E G H639144890ORPHA152610682602413
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHC CL E G H639197286ORPHA152610682602413
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM157510682602413
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHC CL E G H6391606764Gastrointestinal stroma tumor606764C0238198OMIM152610682602413
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHD CL E G H639297286ORPHA150710683602690
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHD CL E G H639297286ORPHA144210683602690
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100723HP:0100723Gastrointestinal stroma tumor0CD19 CL E G H9301572ORPHA02721633107265
HP:0100723HP:0100723Gastrointestinal stroma tumor0CD19 CL E G H9301572ORPHA02231633107265
HP:0100723HP:0100723Gastrointestinal stroma tumor0CD81 CL E G H9751572ORPHA01071701186845
HP:0100723HP:0100723Gastrointestinal stroma tumor0CD81 CL E G H9751572ORPHA0771701186845
HP:0100723HP:0100723Gastrointestinal stroma tumor0CR2 CL E G H13801572ORPHA04532336120650
HP:0100723HP:0100723Gastrointestinal stroma tumor0CR2 CL E G H13801572ORPHA03582336120650
HP:0100723HP:0100723Gastrointestinal stroma tumor0ICOS CL E G H298511572ORPHA01545351604558
HP:0100723HP:0100723Gastrointestinal stroma tumor0ICOS CL E G H298511572ORPHA01375351604558
HP:0100723HP:0100723Gastrointestinal stroma tumor0MS4A1 CL E G H9311572ORPHA0627315112210
HP:0100723HP:0100723Gastrointestinal stroma tumor0MS4A1 CL E G H9311572ORPHA0287315112210
HP:0100723HP:0100723Gastrointestinal stroma tumor0NFKB1 CL E G H47901572ORPHA02667794164011
HP:0100723HP:0100723Gastrointestinal stroma tumor0NFKB1 CL E G H47901572ORPHA01717794164011
HP:0100723HP:0100723Gastrointestinal stroma tumor0NFKB2 CL E G H47911572ORPHA03177795164012
HP:0100723HP:0100723Gastrointestinal stroma tumor0NFKB2 CL E G H47911572ORPHA02487795164012
HP:0100723HP:0100723Gastrointestinal stroma tumor0PRKCD CL E G H55801572ORPHA02779399176977
HP:0100723HP:0100723Gastrointestinal stroma tumor0PRKCD CL E G H55801572ORPHA02259399176977
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHB CL E G H6390115310Paragangliomas 4115310C1861848OMIM092610681185470
HP:0100723HP:0100723Gastrointestinal stroma tumor0SDHB CL E G H6390115310Paragangliomas 4115310C1861848OMIM082410681185470
HP:0100723HP:0100723Gastrointestinal stroma tumor0TNFRSF13B CL E G H234951572ORPHA032218153604907
HP:0100723HP:0100723Gastrointestinal stroma tumor0TNFRSF13B CL E G H234951572ORPHA028418153604907
HP:0100723HP:0100723Gastrointestinal stroma tumor0TNFRSF13C CL E G H1156501572ORPHA012517755606269
HP:0100723HP:0100723Gastrointestinal stroma tumor0TNFRSF13C CL E G H1156501572ORPHA010117755606269
HP:0100723HP:0100723Gastrointestinal stroma tumor0TNFSF12 CL E G H87421572ORPHA013111927602695
HP:0100723HP:0100723Gastrointestinal stroma tumor0TNFSF12 CL E G H87421572ORPHA09411927602695


Genes (17) :CD19 CD81 CR2 ICOS KIT MS4A1 NFKB1 NFKB2 PDGFRA PRKCD SDHA SDHB SDHC SDHD TNFRSF13B TNFRSF13C TNFSF12

Diseases (5) :1572 44890 606764 97286 115310
 

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