Statements (54)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:Genetics
|
| gptkbp:associated_with |
gptkb:diabetes
gptkb:Oncology gptkb:Kaposi's_sarcoma gptkb:pancreatic_cancer 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:characterized_by |
immunodeficiency
short stature sun-sensitive skin changes |
| gptkbp:condition |
cancer predisposition syndrome
|
| gptkbp:diagnosis |
genetic testing
|
| gptkbp:discovered_by |
gptkb:David_Bloom
|
| gptkbp:first_described_by |
gptkb:1954
|
| https://www.w3.org/2000/01/rdf-schema#label |
Bloom syndrome
|
| gptkbp:inherits_from |
autosomal recessive
|
| gptkbp:named_after |
gptkb:David_Bloom
|
| gptkbp:occurs_in |
gptkb:humans
|
| gptkbp:prevalence |
rare
|
| gptkbp:research_focus |
DNA repair mechanisms
cancer biology genetic mechanisms |
| gptkbp:symptoms |
growth retardation
increased susceptibility to infections facial features abnormalities |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Ashkenazi
|
| gptkbp:bfsLayer |
6
|