Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
Stickler syndrome subtype |
| gptkbp:affects |
collagen IX
|
| gptkbp:firstDescribed |
2017
|
| https://www.w3.org/2000/01/rdf-schema#label |
Type IV Stickler syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:COL9A1_gene
gptkb:COL9A2_gene gptkb:COL9A3_gene |
| gptkbp:OMIM |
618587
|
| gptkbp:partOf |
gptkb:Stickler_syndrome
|
| gptkbp:symptom |
hearing loss
myopia cleft palate retinal detachment joint problems |
| gptkbp:bfsParent |
gptkb:Stickler_syndrome
|
| gptkbp:bfsLayer |
7
|