Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
Marshall-Stickler syndrome
|
| gptkbp:causedBy |
mutation in COL11A1 gene
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:Don_Marshall
1958 |
| https://www.w3.org/2000/01/rdf-schema#label |
Marshall syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
154780
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:Stickler_syndrome
|
| gptkbp:symptom |
gptkb:cataracts
hearing loss cleft palate midfacial hypoplasia |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:COL11A1
|
| gptkbp:bfsLayer |
7
|