Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
Ehlers-Danlos syndrome subtype |
| gptkbp:affects |
collagen processing
|
| gptkbp:alternativeName |
EDS VIIB
Ehlers-Danlos syndrome type VIIB |
| gptkbp:characterizedBy |
joint hypermobility
skin hyperextensibility tissue fragility |
| gptkbp:firstDescribed |
1975s
|
| https://www.w3.org/2000/01/rdf-schema#label |
EDS type VIIB
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL1A2_gene
|
| gptkbp:OMIM |
130060
|
| gptkbp:symptom |
easy bruising
joint dislocations mild muscle hypotonia |
| gptkbp:bfsParent |
gptkb:arthrochalasia_Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
7
|