Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
autosomal recessive disease |
| gptkbp:associatedWith |
sister chromatid exchange
|
| gptkbp:characterizedBy |
short stature
immunodeficiency increased cancer risk genomic instability photosensitivity |
| gptkbp:diagnosedBy |
cytogenetic analysis
|
| gptkbp:firstDescribed |
gptkb:David_Bloom
1954 |
| https://www.w3.org/2000/01/rdf-schema#label |
Bloom syndrome
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:15q26.1
|
| gptkbp:MeSH_ID |
D001815
|
| gptkbp:mutationAssociatedWith |
gptkb:BLM_gene
|
| gptkbp:notableFor |
gptkb:Ashkenazi_Jewish_population
|
| gptkbp:OMIM |
210900
|
| gptkbp:prevalence |
rare
|
| gptkbp:proteinAffected |
gptkb:RecQ_helicase
|
| gptkbp:riskFactor |
leukemia
solid tumors |
| gptkbp:symptom |
impaired fertility
narrow face prominent nose skin rash |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:Ashkenazi_Jews
|
| gptkbp:bfsLayer |
4
|