short stature homeobox-containing gene (SHOX) deficiency
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
SHOX deficiency
|
| gptkbp:associatedWith |
gptkb:Turner_syndrome
Langer mesomelic dysplasia Léri-Weill dyschondrosteosis |
| gptkbp:causedBy |
mutation in SHOX gene
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1997
|
| https://www.w3.org/2000/01/rdf-schema#label |
short stature homeobox-containing gene (SHOX) deficiency
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
Xp22.33 and Yp11.32
|
| gptkbp:OMIM |
312865
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
short stature
disproportionate growth Madelung deformity mesomelic limb shortening |
| gptkbp:treatment |
growth hormone therapy
|
| gptkbp:bfsParent |
gptkb:Norditropin
|
| gptkbp:bfsLayer |
7
|