Experimental Factor Ontology

Last uploaded: November 18, 2024

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Preferred Name	Cockayne syndrome
Synonyms	progeria-like syndrome Cockayne's syndrome dwarfism-retinal atrophy-deafness syndrome progeroid nanism Neill-Dingwall 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
closeMatch	http://identifiers.org/meddra/10009835
database_cross_reference	ICD9:759.89 icd11.foundation:1206275070 NANDO:2200832 MESH:D003057 MedDRA:10009835 MEDGEN:40363 NANDO:1200677 SCTID:21086008 Orphanet:191 UMLS:C0009207 DOID:2962 GARD:6122 NCIT:C9460 NORD:982
definition	A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
exactMatch	http://purl.obolibrary.org/obo/Orphanet_191 http://linkedlifedata.com/resource/umls/id/C0009207 http://identifiers.org/medgen/40363 http://purl.obolibrary.org/obo/NCIT_C9460 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1206275070 http://purl.obolibrary.org/obo/DOID_2962 http://identifiers.org/snomedct/21086008 http://identifiers.org/mesh/D003057
has_exact_synonym	Neill-Dingwall syndrome
has_related_synonym	progeria-like syndrome Cockayne's syndrome dwarfism-retinal atrophy-deafness syndrome progeroid nanism
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/6023
id	MONDO:0016006
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label	Cockayne syndrome
notation	MONDO:0016006
preferred label	Cockayne syndrome
prefLabel	Cockayne syndrome
subClassOf	http://www.ebi.ac.uk/efo/EFO_0008499 http://purl.obolibrary.org/obo/MONDO_0015333 http://purl.obolibrary.org/obo/MONDO_0015327 http://www.ebi.ac.uk/efo/EFO_1000017
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0019303 http://purl.obolibrary.org/obo/MONDO_0015951 http://purl.obolibrary.org/obo/MONDO_0021190 http://purl.obolibrary.org/obo/MONDO_0024237 http://purl.obolibrary.org/obo/MONDO_0020240 http://purl.obolibrary.org/obo/MONDO_0019589 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0003847 http://purl.obolibrary.org/obo/MONDO_0000508 http://purl.obolibrary.org/obo/MONDO_0002254

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0016006	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016006	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016006	DOVES	SAME_URI
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
rgo:09507	GAMUTS	LOOM
http://www.radlex.org/RID/RID5131	RADLEX	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://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	DDSS	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://purl.obolibrary.org/obo/MONDO_0016006	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0016006	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016006	DOVES	LOOM
http://www.orpha.net/ORDO/Orphanet_191	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.250	RH-MESH	LOOM