Statements (62)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:bfsLayer |
5
|
| gptkbp:bfsParent |
gptkb:Jason_Alström
gptkb:Todd_Alström |
| gptkbp:associated_with |
gptkb:hospital
awareness campaigns metabolic syndrome employment challenges sleep apnea retinal degeneration liver dysfunction hypotonia scoliosis gastrointestinal issues educational needs social integration issues long-term care needs thyroid dysfunction family planning concerns access to healthcare issues psychosocial challenges research funding needs transition to adulthood challenges renal dysfunction advocacy needs |
| gptkbp:caused_by |
mutation in the ALM S1 gene
|
| gptkbp:clinical_trial |
ongoing
completed recruiting not yet recruiting |
| gptkbp:counseling_services |
high
|
| gptkbp:current_use |
Usher syndrome
Bardet-Biedl syndrome |
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:distribution |
worldwide
|
| gptkbp:first_described_by |
Alström et al.
|
| gptkbp:genetic_diversity |
gptkb:stock_market_index
recommended |
| https://www.w3.org/2000/01/rdf-schema#label |
Alström syndrome
|
| gptkbp:is_popular_in |
rare
|
| gptkbp:lifespan |
varies by individual
|
| gptkbp:research_areas |
gptkb:Harvard_University
gptkb:University_of_California gptkb:Research_Institute |
| gptkbp:research_focus |
gptkb:physicist
clinical trials |
| gptkbp:scholarships |
gptkb:Alström_Syndrome_International
Alström Syndrome Foundation |
| gptkbp:side_effect |
gptkb:significant
|
| gptkbp:social_responsibility |
genetic testing
clinical evaluation |
| gptkbp:symptoms |
gptkb:Company
obesity hearing loss multidisciplinary approach short stature hypogonadism dilated cardiomyopathy progressive vision loss |
| gptkbp:treatment |
symptomatic management
lifestyle modification |
| gptkbp:year_created |
gptkb:1959
|