Statements (53)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:bfsLayer |
5
|
| gptkbp:bfsParent |
gptkb:Ashkenazi
gptkb:Cockayne_syndrome |
| gptkbp:associated_with |
gptkb:healthcare_organization
gptkb:Company gptkb:Wilms_tumor gptkb:head_and_neck_cancers gptkb:neuroblastoma ovarian cancer increased risk of cancer chromosomal instability educational challenges skin lesions liver cancer stomach cancer long-term health monitoring photosensitivity fertility issues telomere shortening autoimmune disorders endocrine disorders esophageal cancer psychosocial issues gastrointestinal issues colon cancer pulmonary complications social integration issues family planning concerns neurological problems genetic counseling needs impaired wound healing urinary tract cancers |
| gptkbp:caused_by |
mutation in the BLM gene
|
| gptkbp:current_use |
cancer predisposition syndrome
|
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:discovered_by |
gptkb:David_Bloom
|
| gptkbp:first_described_by |
gptkb:1954
|
| https://www.w3.org/2000/01/rdf-schema#label |
Bloom syndrome
|
| gptkbp:is_characterized_by |
immunodeficiency
short stature sun-sensitive skin changes |
| gptkbp:is_popular_in |
rare
|
| gptkbp:named_after |
gptkb:David_Bloom
|
| gptkbp:occurs_in |
gptkb:Person
|
| gptkbp:research_focus |
DNA repair mechanisms
cancer biology genetic mechanisms |
| gptkbp:social_responsibility |
genetic testing
|
| gptkbp:symptoms |
growth retardation
increased susceptibility to infections facial features abnormalities |
| gptkbp:treatment |
symptomatic management
|