Experimental Factor Ontology

Last uploaded: May 15, 2024
Preferred Name

Werner syndrome

Synonyms

Werner's syndrome

adult progeria

adult premature ageing syndrome

Werner syndrome

WS

adult premature aging syndrome

WRN

Definitions

A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

ID

http://purl.obolibrary.org/obo/MONDO_0010196

closeMatch

http://identifiers.org/meddra/10049429

database_cross_reference

MedDRA:10049429

DOID:5688

NCIT:C3447

NORD:1845

UMLS:C0043119

ICD9:259.8

SCTID:51626007

OMIM:277700

Orphanet:902

GARD:7885

MESH:D014898

definition

A rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C3447

http://identifiers.org/snomedct/51626007

http://purl.obolibrary.org/obo/Orphanet_902

https://omim.org/entry/277700

http://purl.obolibrary.org/obo/DOID_5688

http://identifiers.org/mesh/D014898

http://linkedlifedata.com/resource/umls/id/C0043119

has_exact_synonym

Werner's syndrome

adult progeria

adult premature ageing syndrome

Werner syndrome

WS

adult premature aging syndrome

has_related_synonym

WRN

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5682

id

MONDO:0010196

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#nord_rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

label

Werner syndrome

notation

MONDO:0010196

prefLabel

Werner syndrome

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0019303

http://purl.obolibrary.org/obo/MONDO_0016382

http://purl.obolibrary.org/obo/MONDO_0005328

subClassOf

http://purl.obolibrary.org/obo/MONDO_0015333

http://www.ebi.ac.uk/efo/EFO_1000017

http://purl.obolibrary.org/obo/MONDO_0002254

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0010196 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010196 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010196 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010196 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.925 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3447 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C3447 BERO LOOM
http://www.gamuts.net/entity#Werner_syndrome GAMUTS LOOM
http://purl.jp/bio/4/id/200906072656779222 IOBC LOOM
http://identifiers.org/omim/277700 REXO LOOM
http://identifiers.org/omim/277700 GEXO LOOM
http://identifiers.org/omim/277700 RETO LOOM
http://purl.obolibrary.org/obo/OMIM_277700 CCO LOOM
http://purl.obolibrary.org/obo/OMIT_0015724 OMIT LOOM
http://nanbyodata.jp/ontology/NANDO_1200676 NANDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00404 SNMI LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038523 PMAPP-PMO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_5688 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.960 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14941 DERMLEX LOOM
http://purl.obolibrary.org/obo/DERMO_0000651 DERMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#13142 OCHV LOOM
http://nanbyodata.jp/ontology/NANDO_2200831 NANDO LOOM
http://purl.bioontology.org/ontology/MESH/D014898 MESH LOOM
http://purl.bioontology.org/ontology/OMIM/277700 OMIM LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000654678 PDQ LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/51626007 SNOMEDCT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0043119 OCHV LOOM
http://www.limics.org/hrdo/rdfns#pat_id_960 HRDO LOOM
http://id.nlm.nih.gov/mesh/D014898 MDM LOOM
http://purl.obolibrary.org/obo/DOID_5688 CLO LOOM
http://purl.obolibrary.org/obo/DOID_5688 DTO LOOM
http://purl.obolibrary.org/obo/DOID_5688 DOID LOOM
http://purl.obolibrary.org/obo/DOID_5688 BAO LOOM
http://purl.obolibrary.org/obo/DOID_5688 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_5688 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_5688 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D014898 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_902 ORDO LOOM