Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
STL2
|
| gptkbp:associatedWith |
Pierre Robin sequence
|
| gptkbp:category |
collagenopathy
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
David Stickler
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL11A1_gene
|
| gptkbp:OMIM |
604841
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Type_III_Stickler_syndrome
gptkb:Type_I_Stickler_syndrome |
| gptkbp:symptom |
hearing loss
myopia cleft palate joint hypermobility retinal detachment early-onset arthritis |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Stickler_syndrome
|
| gptkbp:bfsLayer |
8
|
| http://www.w3.org/2000/01/rdf-schema#label |
Type II Stickler syndrome
|