BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Cockayne syndrome

Synonyms

Neill-Dingwall syndrome

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A syndrome that has_material_basis_in rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.

ID

http://purl.obolibrary.org/obo/DOID_2962

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD10CM:Q87.19

UMLS_CUI:C0009207

OMIM:216400

MESH:D003057

SNOMEDCT_US_2020_03_01:205832003

OMIM:133540

GARD:6122

NCI:C9460

ORDO:191

ORDO:90321

ORDO:90322

ORDO:90324

has exact synonym

Neill-Dingwall syndrome

has_obo_namespace

disease_ontology

has_related_synonym

Cockayne's syndrome

id

DOID:2962

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

label

Cockayne syndrome

notation

DOID:2962

prefLabel

Cockayne syndrome

textual definition

A syndrome that has_material_basis_in rare mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2962 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2962 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_2962 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_2962 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2962 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2962 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_2962 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0016006 EFO LOOM
http://purl.obolibrary.org/obo/DOID_2962 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0016006 MONDO 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://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://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 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://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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

Term Label (required)
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Example: tissue-based format

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

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