Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Gardner syndrome

Synonyms
Definitions

Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.

ID

http://www.orpha.net/ORDO/Orphanet_79665

definition

Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665

has_age_of_onset

Adult

hasDbXref

ICD-10:D12.6

ICD-11:LD2D.3

OMIM:175100

MedDRA:10017727

UMLS:C0017097

MeSH:D005736

label

Gardner syndrome

notation

ORPHA:79665

Clinical subtype

part_of

http://www.orpha.net/ORDO/Orphanet_98196

http://www.orpha.net/ORDO/Orphanet_79386

http://www.orpha.net/ORDO/Orphanet_183487

http://www.orpha.net/ORDO/Orphanet_733

http://www.orpha.net/ORDO/Orphanet_519325

prefixIRI

ORDO:Orphanet_79665

prefLabel

Gardner syndrome

present_in

Worldwide AND has_birth_prevalence_average_value : 9.1 AND has_birth_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_98196

http://www.orpha.net/ORDO/Orphanet_79386

http://www.orpha.net/ORDO/Orphanet_183487

http://www.orpha.net/ORDO/Orphanet_733

http://www.orpha.net/ORDO/Orphanet_519325

subClassOf

http://www.orpha.net/ORDO/Orphanet_557494

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_79665 EFO SAME_URI
rgo:01240 GAMUTS LOOM
rgo:01240 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0019336 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019336 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.557.470.035.215.100.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.469.578.249.393 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17825 DERMLEX LOOM
http://purl.jp/bio/4/id/200906053818622794 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.274.476.411.307.089.393 RH-MESH LOOM
http://purl.obolibrary.org/obo/NCIT_C6728 BERO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039919 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/DERMO_0000607 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.700.100.392 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11544 HRDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/60876000 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Gardner_s_Syndrome CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.469.491.307.180.089.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.301.371.411.307.180.089.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C04.588.274.476.411.307.180.089.500 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0019336 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C6728 NCIT LOOM
http://purl.obolibrary.org/obo/OMIT_0006936 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.249.411.307.180.089.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D005736 MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01039 SNMI LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.700.100.393 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.393 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.469.158.356.180.089.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005736 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D005736 MDM LOOM
http://www.gamuts.net/entity#Gardner_syndrome GAMUTS LOOM
http://www.gamuts.net/entity#Gardner_syndrome GAMUTS REST
http://www.gamuts.net/entity#Gardner_syndrome GAMUTS REST
http://www.gamuts.net/entity#Gardner_syndrome GAMUTS REST