Properties (46)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:physicist
|
gptkbp:ageLimit |
2 to 4 years
|
gptkbp:associatedWith |
vision problems
intellectual disability skin lesions respiratory issues skeletal abnormalities |
gptkbp:causedBy |
deficiency of iduronate-2-sulfatase
|
gptkbp:clinicalTrials |
ongoing research for new treatments
|
gptkbp:demographics |
1 in 100,000 males
|
gptkbp:diseaseResistance |
genetic testing
enzyme assay |
gptkbp:geneticDiversity |
Xq28
|
https://www.w3.org/2000/01/rdf-schema#label |
Hunter syndrome
|
gptkbp:impact |
symptomatic treatment
enzyme replacement therapy |
gptkbp:introduced |
gptkb:Dr._Charles_Hunter
|
gptkbp:legalEvent |
varies widely
|
gptkbp:nobleFamily |
X-linked recessive
|
gptkbp:providesServices |
gptkb:National_MPS_Society
gptkb:Hunter_Syndrome_Foundation |
gptkbp:relatedPatent |
gptkb:pulmonary_hypertension
chronic pain infections sleep apnea gastrointestinal issues dental problems neurological decline hepatosplenomegaly Mucopolysaccharidosis II cardiac disease orthopedic issues |
gptkbp:researchFocus |
gene therapy
symptom management new enzyme therapies |
gptkbp:riskManagement |
family history
male sex |
gptkbp:symptoms |
hearing loss
behavioral issues enlarged liver enlarged spleen cardiovascular problems joint stiffness coarse facial features developmental delay |
gptkbp:type |
metabolic disorder
|