Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Genetic disorder
|
| gptkbp:affects |
Connective tissue
|
| gptkbp:cause |
Abnormal collagen fibrils
|
| gptkbp:causedBy |
Mutations in ADAMTS2 gene
|
| gptkbp:characterizedBy |
Extreme skin fragility
Lax, sagging skin |
| gptkbp:deficiencyCauses |
Procollagen I N-proteinase
|
| gptkbp:firstDescribed |
1971
|
| https://www.w3.org/2000/01/rdf-schema#label |
Dermatosparaxis
|
| gptkbp:inheritance |
Autosomal recessive
|
| gptkbp:occurredIn |
gptkb:Humans
gptkb:livestock |
| gptkbp:relatedTo |
Ehlers-Danlos syndrome
|
| gptkbp:symptom |
Delayed wound healing
Easy bruising |
| gptkbp:bfsParent |
gptkb:COL1A2_gene
gptkb:COL1A2 |
| gptkbp:bfsLayer |
7
|