Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
gptkb:skin
nails teeth eyes hair skeletal system |
| gptkbp:alsoKnownAs |
Goltz syndrome
|
| gptkbp:category |
ectodermal dysplasia
genodermatosis |
| gptkbp:firstDescribed |
1962
Robert Goltz |
| gptkbp:gender |
predominantly affects females
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
Focal dermal hypoplasia
|
| gptkbp:ICD-10_code |
Q82.8
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:PORCN_gene
|
| gptkbp:OMIM |
305600
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
skeletal abnormalities
dental anomalies ocular anomalies fat herniation linear skin atrophy |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Porcupine_protein
|
| gptkbp:bfsLayer |
8
|