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Cockayne syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0016006

A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. [ https://orcid.org/0000-0001-5208-3432 Orphanet:191 ]

Synonyms: Neill-Dingwall syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:2200832 (https://orcid.org/0000-0003-0011-764X)
  • NORD:982 (MONDO:NORD)
  • NANDO:1200677 (https://orcid.org/0000-0003-0011-764X)
  • MedDRA:10009835 (Orphanet:191/e)
  • NCIT:C9460 (MONDO:equivalentTo)
  • icd11.foundation:1206275070 (MONDO:equivalentTo)
  • Orphanet:191 (MONDO:equivalentTo)
  • MESH:D003057 (Orphanet:191/e)
  • GARD:6122 (MONDO:GARD)
  • DOID:2962 (MONDO:equivalentTo)
  • SCTID:21086008 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • MEDGEN:40363 (MONDO:equivalentTo)
  • UMLS:C0009207 (MONDO:equivalentTo)
Subsets

ordo_disorder, matrix_llm__is_cancer_other, gard_rare, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, mondo_top_grouping_premature_aging_syndrome, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, orphanet_rare, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, harrisons_view_premature_aging_syndrome, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, harrisons_view_metabolic_disease

closeMatch

http://identifiers.org/meddra/10009835

exactMatch

http://identifiers.org/snomedct/21086008

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

http://identifiers.org/medgen/40363

http://www.orpha.net/ORDO/Orphanet_191

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1206275070

http://identifiers.org/mesh/D003057

http://linkedlifedata.com/resource/umls/id/C0009207

http://purl.obolibrary.org/obo/NCIT_C9460

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015951

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

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

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

http://purl.obolibrary.org/obo/MONDO_0019589

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

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

http://purl.obolibrary.org/obo/MONDO_0003847

http://purl.obolibrary.org/obo/MONDO_0000508

http://purl.obolibrary.org/obo/MONDO_0020240

has related synonym

Cockayne's syndrome

dwarfism-retinal atrophy-deafness syndrome

progeroid nanism

progeria-like syndrome

id

MONDO:0016006

term tracker item

https://github.com/monarch-initiative/mondo/issues/6023