Ehlers-Danlos syndrome type VIIC
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:alsoKnownAs |
Dermatosparaxis Ehlers-Danlos syndrome
|
| gptkbp:category |
gptkb:Ehlers-Danlos_syndromes
|
| gptkbp:deficiencyCauses |
gptkb:procollagen_I_N-proteinase
|
| gptkbp:firstDescribed |
1971
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndrome type VIIC
|
| gptkbp:ICD-10_code |
Q79.6
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:ADAMTS2_gene
|
| gptkbp:OMIM |
225410
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
joint hypermobility
extreme skin fragility sagging, redundant skin |
| gptkbp:bfsParent |
gptkb:ADAMTS2_gene
gptkb:dermatosparaxis_Ehlers-Danlos_syndrome |
| gptkbp:bfsLayer |
7
|