dermatosparaxis Ehlers-Danlos syndrome
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
Ehlers-Danlos syndrome subtype |
| gptkbp:affects |
collagen processing
|
| gptkbp:alternativeName |
gptkb:EDS_type_VIIC
gptkb:Ehlers-Danlos_syndrome_type_VIIC |
| gptkbp:characterizedBy |
joint hypermobility
sagging skin delayed wound healing extremely fragile skin |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1971
|
| https://www.w3.org/2000/01/rdf-schema#label |
dermatosparaxis Ehlers-Danlos syndrome
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ADAMTS2_gene
|
| gptkbp:OMIM |
225410
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
short stature
blue sclerae umbilical hernia large fontanelles premature rupture of membranes |
| gptkbp:treatment |
supportive care
physical therapy wound management |
| gptkbp:bfsParent |
gptkb:Ehlers-Danlos_syndrome
|
| gptkbp:bfsLayer |
6
|