Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
gptkb:skin
mucous membranes larynx brain (amygdala) |
| gptkbp:alsoKnownAs |
gptkb:lipoid_proteinosis
gptkb:Urbach–Wiethe_disease |
| gptkbp:diagnosedBy |
genetic testing
clinical examination |
| gptkbp:firstDescribed |
gptkb:Camillo_Wiethe
gptkb:Erich_Urbach 1929 |
| https://www.w3.org/2000/01/rdf-schema#label |
hyalinosis cutis et mucosae
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ECM1_gene
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hoarseness
skin thickening beaded eyelid papules oral mucosa lesions |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Urbach–Wiethe_disease
|
| gptkbp:bfsLayer |
6
|