Bloom syndrome-like disorder
GPTKB entity
Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
immune system
growth and development |
| gptkbp:causedBy |
mutation in RMI1 gene
mutation in TOP3A gene |
| https://www.w3.org/2000/01/rdf-schema#label |
Bloom syndrome-like disorder
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
617052
|
| gptkbp:onset |
childhood
|
| gptkbp:similarTo |
gptkb:Bloom_syndrome
|
| gptkbp:symptom |
immunodeficiency
increased cancer risk microcephaly photosensitivity growth deficiency |
| gptkbp:bfsParent |
gptkb:TOP3A
|
| gptkbp:bfsLayer |
7
|