Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
brain
eye |
| gptkbp:characterizedBy |
retinal detachment
high myopia encephalocele vitreoretinal degeneration |
| gptkbp:firstDescribed |
1971
W.H. Knobloch |
| gptkbp:hasOrphanetID |
ORPHA:2346
|
| https://www.w3.org/2000/01/rdf-schema#label |
Knobloch syndrome
|
| gptkbp:ICD-10_code |
Q04.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D054179
|
| gptkbp:mutationAssociatedWith |
COL18A1 gene
|
| gptkbp:OMIM |
267750
|
| gptkbp:symptom |
intellectual disability
glaucoma seizures macular hypoplasia occipital scalp defect |
| gptkbp:bfsParent |
gptkb:COL15A1
|
| gptkbp:bfsLayer |
7
|