Mondo Disease Ontology

Last uploaded: February 4, 2025
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Id http://purl.obolibrary.org/obo/MONDO_0016006
http://purl.obolibrary.org/obo/MONDO_0016006
Preferred Name

Cockayne syndrome
Definitions
A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
Synonyms
progeroid nanism
progeria-like syndrome
dwarfism-retinal atrophy-deafness syndrome
Cockayne's syndrome
Neill-Dingwall syndrome
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

A multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
label
Cockayne syndrome
prefLabel
Cockayne syndrome
database_cross_reference
GARD:6122
MESH:D003057
UMLS:C0009207
NANDO:1200677
NORD:982
icd11.foundation:1206275070
DOID:2962
Orphanet:191
MedDRA:10009835
NANDO:2200832
SCTID:21086008
ICD9:759.89
MEDGEN:40363
NCIT:C9460
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IAO_0000233
notation
MONDO:0016006
in_subset
has_related_synonym
progeroid nanism
progeria-like syndrome
dwarfism-retinal atrophy-deafness syndrome
Cockayne's syndrome
id
MONDO:0016006
excluded subClassOf
skos_exactMatch
subClassOf
skos_closeMatch
type
has_exact_synonym
Neill-Dingwall syndrome
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