Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Gastrointestinal stromal tumor

Synonyms

GIST

Definitions

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

ID

http://www.orpha.net/ORDO/Orphanet_44890

alternative_term

GIST

Gastrointestinal stromal sarcoma

definition

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890

has_age_of_onset

Adolescent

Adult

Childhood

has_inheritance

Not applicable

Autosomal dominant

hasDbXref

MeSH:D046152

ICD-10:C26.9

OMIM:175510

ICD-11:2B5B

OMIM:606764

UMLS:C0238198

ICD-11:XH9HQ1

MedDRA:10051066

label

Gastrointestinal stromal tumor

notation

ORPHA:44890

part_of

http://www.orpha.net/ORDO/Orphanet_271835

http://www.orpha.net/ORDO/Orphanet_423798

prefixIRI

ORDO:Orphanet_44890

prefLabel

Gastrointestinal stromal tumor

present_in

Europe AND has_point_prevalence_average_value : 13.0 AND has_point_prevalence_range : 1-5 / 10 000

Europe AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000

Sweden AND has_point_prevalence_average_value : 12.9 AND has_point_prevalence_range : 1-5 / 10 000

Worldwide AND has_annual_incidence_average_value : 1.0 AND has_annual_incidence_range : 1-9 / 100 000

Korea, Republic of AND has_annual_incidence_average_value : 1.9 AND has_annual_incidence_range : 1-9 / 100 000

United States AND has_annual_incidence_average_value : 1.5 AND has_annual_incidence_range : 1-9 / 100 000

Hong Kong AND has_point_prevalence_average_value : 14.5 AND has_point_prevalence_range : 1-5 / 10 000

Hong Kong AND has_annual_incidence_average_value : 1.82 AND has_annual_incidence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_271835

http://www.orpha.net/ORDO/Orphanet_423798

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_44890 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011719 EFO LOOM
http://purl.obolibrary.org/obo/DOID_9253 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0011719 MONDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/C49.A ICD10CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Gastrointestinal_Stromal_Tumor CSEO LOOM
http://purl.obolibrary.org/obo/OMIM_606764 CCO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3868 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0011719 DOVES LOOM
http://www.limics.org/hrdo/rdfns#sgn_id_50870 HRDO LOOM
http://identifiers.org/omim/606764 REXO LOOM
http://identifiers.org/omim/606764 GEXO LOOM
http://identifiers.org/omim/606764 RETO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9253 NATPRO LOOM
http://radlex.org/RID/RID4551 RADLEX LOOM
http://purl.bioontology.org/ontology/MEDDRA/10062427 MEDDRA LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000038161 PDQ LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10584 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_9253 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9253 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9253 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9253 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_9253 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9253 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_9253 FNS-H LOOM
http://www.gamuts.net/entity#gastrointestinal_stromal_tumor GAMUTS LOOM
http://purl.obolibrary.org/obo/NCIT_C3868 BERO LOOM
http://purl.jp/bio/4/id/200906052639828626 IOBC LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/420120006 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/OMIM/606764 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/1187383001 SNOMEDCT LOOM
http://www.gamuts.net/entity#gastrointestinal_stromal_tumor GAMUTS REST