Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
immunodeficiency
growth hormone insensitivity |
| gptkbp:cause |
short stature
recurrent infections |
| gptkbp:firstDescribed |
2003
|
| https://www.w3.org/2000/01/rdf-schema#label |
STAT5b mutation
|
| gptkbp:impact |
growth hormone signaling
STAT5b protein function |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:regulates |
gptkb:STAT5B
|
| gptkbp:bfsParent |
gptkb:LGL_Leukemia
|
| gptkbp:bfsLayer |
7
|