Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
non-ocular Stickler syndrome
|
| gptkbp:compatibleWith |
eyes
|
| gptkbp:differentialDiagnosis |
gptkb:Marshall_syndrome
other types of Stickler syndrome |
| gptkbp:firstDescribed |
1990s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type III Stickler syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL11A2_gene
|
| gptkbp:OMIM |
184840
|
| gptkbp:partOf |
Stickler syndrome spectrum
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hearing loss
cleft palate joint problems midfacial hypoplasia |
| gptkbp:bfsParent |
gptkb:Stickler_syndrome
|
| gptkbp:bfsLayer |
7
|