Ehlers-Danlos syndrome, arthrochalasia type
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
Ehlers-Danlos syndrome subtype |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:firstDescribed |
1970s
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ehlers-Danlos syndrome, arthrochalasia type
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL1A1_gene
gptkb:COL1A2_gene |
| gptkbp:OMIM |
130060
|
| gptkbp:symptom |
joint hypermobility
skin hyperextensibility tissue fragility muscle hypotonia congenital hip dislocation |
| gptkbp:synonym |
gptkb:EDS_type_VIIA
gptkb:EDS_type_VIIB |
| gptkbp:bfsParent |
gptkb:COL5A1_gene
|
| gptkbp:bfsLayer |
7
|