Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
kidneys
eyes |
| gptkbp:characterizedBy |
gptkb:congenital_nephrotic_syndrome
microcoria ocular abnormalities |
| gptkbp:firstDescribed |
2004
|
| https://www.w3.org/2000/01/rdf-schema#label |
Pierson syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:LAMB2_gene
|
| gptkbp:namedAfter |
gptkb:Marc_Pierson
|
| gptkbp:OMIM |
609049
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
renal failure
proteinuria visual impairment |
| gptkbp:bfsParent |
gptkb:LN5
|
| gptkbp:bfsLayer |
6
|