Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
gptkb:skin
heart lungs joints blood vessels |
| gptkbp:cause |
mutation in ATP6V0A2 gene
mutation in ELN gene mutation in FBLN5 gene |
| gptkbp:firstDescribed |
1885
|
| https://www.w3.org/2000/01/rdf-schema#label |
cutis laxa
|
| gptkbp:ICD-10_code |
Q82.8
|
| gptkbp:inheritance |
autosomal dominant
X-linked recessive autosomal recessive |
| gptkbp:MeSH_ID |
D003524
|
| gptkbp:OMIM |
123700
|
| gptkbp:onset |
congenital
acquired |
| gptkbp:otherName |
dermatomegaly
generalized elastolysis |
| gptkbp:symptom |
wrinkled skin
loose skin reduced skin elasticity |
| gptkbp:treatment |
supportive care
plastic surgery |
| gptkbp:bfsParent |
gptkb:Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
6
|