Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

Cockayne syndrome
Synonyms

Neill-Dingwall syndrome

progeroid nanism

progeria-like syndrome

dwarfism-retinal atrophy-deafness syndrome

Cockayne's syndrome
Definitions

A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
ID

http://purl.obolibrary.org/obo/MONDO_0016006
has characteristic

http://purl.obolibrary.org/obo/MONDO_0021136
has_exact_synonym

Neill-Dingwall syndrome
has_related_synonym

progeroid nanism

progeria-like syndrome

dwarfism-retinal atrophy-deafness syndrome

Cockayne's syndrome
label

Cockayne syndrome
prefixIRI

MONDO:0016006
prefLabel

Cockayne syndrome
textual definition

A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0021190

http://purl.obolibrary.org/obo/MONDO_0024237

http://purl.obolibrary.org/obo/MONDO_0006025

http://purl.obolibrary.org/obo/MONDO_0002254
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http://purl.obolibrary.org/obo/MONDO_0016006 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016006 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_2962 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0016006 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0016006 EFO LOOM
http://purl.obolibrary.org/obo/OMIT_0004367 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.284.250 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D003057 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.240.562 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_638 HRDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00402 SNMI LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/21086008 SNOMEDCT LOOM
http://www.ebi.ac.uk/efo/EFO_0000359 CLO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14435 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.400.200 RH-MESH LOOM
http://purl.obolibrary.org/obo/DERMO_0000628 DERMO LOOM
http://nanbyodata.jp/ontology/NANDO_1200677 NANDO LOOM
http://purl.bioontology.org/ontology/RCTV2/PKy6100 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.500.362 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2962 NATPRO LOOM
http://purl.obolibrary.org/obo/NCIT_C9460 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0009207 OCHV LOOM
http://purl.jp/bio/4/id/200906016922914095 IOBC LOOM
http://www.gamuts.net/entity#Cockayne_syndrome GAMUTS LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000042486 PDQ LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036590 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C9460 NCIT LOOM
http://nanbyodata.jp/ontology/NANDO_2200832 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C05.116.099.343.250 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_2962 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2962 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2962 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2962 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2962 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2962 FNS-H LOOM
http://purl.bioontology.org/ontology/RCD/PKy61 RCD LOOM
http://radlex.org/RID/RID5131 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3116 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003057 RH-MESH LOOM
http://localhost/plosthes.2017-1#4676 PLOSTHES LOOM
http://www.orpha.net/ORDO/Orphanet_191 ORDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.250 RH-MESH LOOM