Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
STL1
|
| gptkbp:category |
collagenopathy
hereditary osteochondrodysplasia |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Gunnar_B._Stickler
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type I Stickler syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL2A1_gene
|
| gptkbp:OMIM |
108300
|
| gptkbp:prevalence |
1 in 7,500 to 9,000 newborns
|
| gptkbp:riskFactor |
hearing impairment
vision loss early-onset osteoarthritis |
| gptkbp:symptom |
arthritis
hearing loss myopia cleft palate joint hypermobility retinal detachment |
| gptkbp:treatment |
hearing aids
symptomatic management surgical intervention for cleft palate vitrectomy for retinal detachment |
| gptkbp:bfsParent |
gptkb:Stickler_syndrome
|
| gptkbp:bfsLayer |
7
|