Term info
database cross reference
- ICD9:759.89 (MONDO:relatedTo)
- OMIM:314600 (Orphanet:3456/e)
- Orphanet:3456 (OMIM:314600)
- UMLS:C0265239 (Orphanet:3456/e)
- MedDRA:10069402 (Orphanet:3456/e)
- GARD:0005569 (MONDO:equivalentTo)
- SCTID:79665007 (MONDO:equivalentTo)
Subsets
gard_rare, ordo_malformation_syndrome
closeMatch
http://identifiers.org/meddra/10069402
definition
Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.
exactMatch
http://purl.obolibrary.org/obo/Orphanet_3456, https://omim.org/entry/314600, http://linkedlifedata.com/resource/umls/id/C0265239, http://identifiers.org/snomedct/79665007
has exact synonym
Wildervanck syndrome, Cervicooculoacoustic syndrome
has related synonym
COA syndrome, cervico-oculo-acoustic dysplasia, cervico-oculo-acoustic syndrome
id
MONDO:0010759
seeAlso
https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome