Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
immune system
|
| gptkbp:alsoKnownAs |
RS-SCID
|
| gptkbp:firstDescribed |
1990s
|
| gptkbp:hasPhenotype |
gptkb:lymphopenia
failure to thrive recurrent infections |
| gptkbp:hasSubgroup |
immunodeficiency
|
| https://www.w3.org/2000/01/rdf-schema#label |
Radiosensitive SCID
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
DCLRE1C gene
NHEJ1 gene |
| gptkbp:OMIM |
602450
|
| gptkbp:symptom |
immunodeficiency
increased sensitivity to ionizing radiation |
| gptkbp:treatment |
gene therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:DCLRE1C
|
| gptkbp:bfsLayer |
7
|