Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
dental disease |
| gptkbp:affects |
teeth
|
| gptkbp:cause |
enamel defects
|
| gptkbp:firstDescribed |
1890
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
amelogenesis imperfecta
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:mutationAssociatedWith |
gptkb:ENAM
AMELX FAM83H MMP20 KLK4 |
| gptkbp:namedAfter |
amelogenesis
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
discolored teeth
fragile teeth pitted enamel thin enamel |
| gptkbp:treatment |
crowns
dental restoration veneers |
| gptkbp:bfsParent |
gptkb:LAMB3
gptkb:SLC24A4 gptkb:chromosome_4q21 gptkb:AMELY |
| gptkbp:bfsLayer |
8
|