Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:firstDescribed |
1971
|
| gptkbp:hasGeneticCause |
mutation in WNT10A gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
Schöpf syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
Jürgen Schöpf
|
| gptkbp:symptom |
hypodontia
palmoplantar keratoderma eyelid cysts hypotrichosis nail dystrophy hidrotic ectodermal dysplasia |
| gptkbp:bfsParent |
gptkb:Schöpf-Schulz-Passarge_syndrome
|
| gptkbp:bfsLayer |
8
|