JSON

Cockayne syndrome

^ 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 ]

Term info

database cross reference
  • ICD9:759.89 (MONDO:relatedTo)
  • SCTID:21086008 (MONDO:equivalentTo)
  • GARD:0006122 (MONDO:equivalentTo)
  • MESH:D003057 (Orphanet:191/e)
  • MedDRA:10009835 (Orphanet:191/e)
  • DOID:2962 (MONDO:equivalentTo)
  • UMLS:C0009207 (Orphanet:191/e)
  • Orphanet:191 (MONDO:equivalentTo)
  • NCIT:C9460 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

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

closeMatch

http://identifiers.org/meddra/10009835

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/DOID_2962, http://identifiers.org/snomedct/21086008, http://identifiers.org/mesh/D003057, http://linkedlifedata.com/resource/umls/id/C0009207, http://purl.obolibrary.org/obo/NCIT_C9460, http://purl.obolibrary.org/obo/Orphanet_191

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_0019303, http://purl.obolibrary.org/obo/MONDO_0019589, http://purl.obolibrary.org/obo/MONDO_0002254, 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_0020240

has exact synonym

Neill-Dingwall syndrome

has related synonym

Cockayne's syndrome, dwarfism-retinal atrophy-deafness syndrome, progeria-like syndrome, progeroid nanism

id

MONDO:0016006