Schöpf-Schulz-Passarge syndrome
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:skin
teeth hair sweat glands |
| gptkbp:causedBy |
mutation in WNT10A gene
|
| gptkbp:firstDescribed |
1971
|
| https://www.w3.org/2000/01/rdf-schema#label |
Schöpf-Schulz-Passarge syndrome
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
224750
|
| gptkbp:otherName |
gptkb:Schöpf_syndrome
gptkb:ectodermal_dysplasia_with_hydrocystomas |
| gptkbp:symptom |
hypodontia
palmoplantar keratoderma eyelid cysts hypotrichosis sweat gland tumors |
| gptkbp:bfsParent |
gptkb:WNT10A
|
| gptkbp:bfsLayer |
7
|