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Stickler syndrome

^ http://purl.obolibrary.org/obo/MONDO_0019354

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). [ Orphanet:828 ]

Term info

database cross reference
  • NCIT:C74984 (MONDO:equivalentTo)
  • GARD:0010782 (MONDO:equivalentTo)
  • SCTID:78675000 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • DOID:0080046 (MONDO:equivalentTo)
  • MedDRA:10063402 (Orphanet:828/e)
  • OMIMPS:108300 (MONDO:equivalentTo)
  • Orphanet:828 (MONDO:equivalentTo)
  • UMLS:C0265253 (Orphanet:828/e)
Subsets

ordo_disease

closeMatch

http://identifiers.org/meddra/10063402

comment

Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome

definition

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases).

exactMatch

http://purl.obolibrary.org/obo/Orphanet_828, http://purl.obolibrary.org/obo/NCIT_C74984, http://identifiers.org/snomedct/78675000, https://omim.org/phenotypicSeries/PS108300, http://purl.obolibrary.org/obo/DOID_0080046, http://linkedlifedata.com/resource/umls/id/C0265253

has exact synonym

hereditary progressive arthroophthalmopathy, Stickler syndrome

id

MONDO:0019354