loading...| Preferred Name |
Stickler syndrome |
| Synonyms |
Stickler syndrome hereditary progressive arthroophthalmopathy |
| Definitions |
Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome 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). |
| ID |
http://purl.obolibrary.org/obo/MONDO_0019354 |
| comment |
Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome |
| closeMatch | |
| database_cross_reference |
Orphanet:828 OMIMPS:108300 GARD:0010782 NCIT:C74984 ICD9:759.89 MedDRA:10063402 DOID:0080046 SCTID:78675000 UMLS:C0265253 |
| 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). |
| disease has feature | |
| exactMatch |
https://omim.org/phenotypicSeries/PS108300 http://purl.obolibrary.org/obo/Orphanet_828 http://purl.obolibrary.org/obo/NCIT_C74984 http://purl.obolibrary.org/obo/DOID_0080046 |
| has_exact_synonym |
Stickler syndrome hereditary progressive arthroophthalmopathy |
| id |
MONDO:0019354 |
| in_subset | |
| label |
Stickler syndrome |
| notation |
MONDO:0019354 |
| prefLabel |
Stickler syndrome |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002254 http://purl.obolibrary.org/obo/MONDO_0018187 http://purl.obolibrary.org/obo/MONDO_0016761 |