hereditary progressive arthro-ophthalmopathy
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
eyes
joints |
| gptkbp:alsoKnownAs |
gptkb:Stickler_syndrome
|
| gptkbp:firstDescribed |
gptkb:Gunnar_B._Stickler
1965 |
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary progressive arthro-ophthalmopathy
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL2A1
gptkb:COL11A1 COL11A2 |
| gptkbp:OMIM |
108300
|
| gptkbp:prevalence |
1 in 7,500 to 9,000 newborns
|
| gptkbp:subspecies |
Stickler syndrome type I
Stickler syndrome type II Stickler syndrome type III |
| gptkbp:symptom |
hearing loss
myopia joint hypermobility retinal detachment early-onset arthritis |
| gptkbp:bfsParent |
gptkb:Stickler_syndrome
|
| gptkbp:bfsLayer |
7
|