Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
collagen processing
|
| gptkbp:alsoKnownAs |
Dermatosparaxis type Ehlers-Danlos syndrome
|
| gptkbp:category |
gptkb:Ehlers-Danlos_syndromes
|
| gptkbp:characterizedBy |
easy bruising
joint hypermobility extreme skin fragility skin sagging |
| gptkbp:deficiencyCauses |
gptkb:procollagen_I_N-proteinase
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
1976
|
| gptkbp:fullName |
gptkb:Ehlers-Danlos_syndrome_type_VIIC
|
| https://www.w3.org/2000/01/rdf-schema#label |
EDS type VIIC
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ADAMTS2_gene
|
| gptkbp:OMIM |
225410
|
| gptkbp:prevalence |
very rare
|
| gptkbp:treatment |
supportive care
physical therapy wound management |
| gptkbp:bfsParent |
gptkb:dermatosparaxis_Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
7
|