Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
type of Ehlers-Danlos syndrome |
| gptkbp:affects |
collagen type I processing
|
| gptkbp:alsoKnownAs |
EDS VIIA
Ehlers-Danlos syndrome type VIIA |
| gptkbp:characterizedBy |
easy bruising
joint hypermobility skin hyperextensibility tissue fragility congenital hip dislocation |
| gptkbp:firstDescribed |
1972
|
| https://www.w3.org/2000/01/rdf-schema#label |
EDS type VIIA
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL1A1_gene
|
| gptkbp:OMIM |
130060
|
| gptkbp:symptom |
hernias
muscle hypotonia blue sclerae delayed wound healing joint dislocations premature rupture of membranes kyphoscoliosis atrophic scars soft, doughy skin |
| gptkbp:bfsParent |
gptkb:arthrochalasia_Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
7
|