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Stickler syndrome

Go to external page 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 ]

Synonyms: hereditary progressive arthroophthalmopathy Stickler syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:78675000 (MONDO:equivalentTo)
  • OMIMPS:108300 (https://orcid.org/0000-0002-6601-2165)
  • NORD:1739 (MONDO:NORD)
  • NCIT:C74984 (MONDO:equivalentTo)
  • Orphanet:828 (MONDO:equivalentTo)
  • DOID:0080046 (MONDO:equivalentTo)
  • MEDGEN:120521 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • MedDRA:10063402 (Orphanet:828/e)
  • GARD:10782 (MONDO:GARD)
  • UMLS:C0265253 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare, clingen

ClinGen label
Stickler syndrome

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

exactMatch

http://identifiers.org/medgen/120521

http://purl.obolibrary.org/obo/NCIT_C74984

http://identifiers.org/snomedct/78675000

http://www.orpha.net/ORDO/Orphanet_828

https://omim.org/phenotypicSeries/PS108300

http://purl.obolibrary.org/obo/DOID_0080046

http://linkedlifedata.com/resource/umls/id/C0265253

id

MONDO:0019354

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml