Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
COL11A1-related Stickler syndrome
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2017
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL11A1_gene
|
| gptkbp:OMIM |
614284
|
| gptkbp:relatedTo |
gptkb:Stickler_syndrome
|
| gptkbp:symptom |
hearing loss
myopia cleft palate joint hypermobility retinal detachment |
| gptkbp:bfsParent |
gptkb:Stickler_syndrome
|
| gptkbp:bfsLayer |
8
|
| http://www.w3.org/2000/01/rdf-schema#label |
Type V Stickler syndrome
|