Properties (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advertising |
increased in recent years
|
| gptkbp:advocacy |
aim to raise awareness
|
| gptkbp:associatedWith |
collagen type I
|
| gptkbp:causedBy |
joint hypermobility
|
| gptkbp:characterizedBy |
recurrent joint dislocations
|
| gptkbp:clinicalTrials |
ongoing
varies widely available for management |
| gptkbp:communitySupport |
important for patients
|
| gptkbp:complications |
surgical complications
psychosocial issues mobility issues |
| gptkbp:demographics |
rare condition
|
| gptkbp:diseaseResistance |
genetic testing
|
| gptkbp:educational_programs |
webinars
medical literature patient brochures |
| gptkbp:geneticDiversity |
recommended for families
COL1A1 gene mutation COL1A2 gene mutation |
| gptkbp:hasService |
family history
clinical evaluation |
| https://www.w3.org/2000/01/rdf-schema#label |
arthrochalasia type
|
| gptkbp:impact |
surgery
both genders physical therapy |
| gptkbp:inheritsFrom |
autosomal dominant inheritance
|
| gptkbp:introduced |
Dr._Marfan
|
| gptkbp:locatedIn |
20th century
|
| gptkbp:manager |
pain management
joint protection strategies |
| gptkbp:mayHave |
chronic pain
arthritis joint instability |
| gptkbp:relatedTo |
gptkb:Ehlers-Danlos_syndrome
|
| gptkbp:researchFocus |
genetic mutations
collagen synthesis |
| gptkbp:researchInterest |
focused on connective tissue disorders
|
| gptkbp:supports |
available online
patient advocacy organizations |
| gptkbp:symptoms |
nutritional support
muscle weakness psychological support exercise programs short stature depends on severity requires ongoing care |