Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
bone growth
|
| gptkbp:characterizedBy |
short stature
mild skeletal abnormalities disproportionate short limbs |
| gptkbp:diagnosedBy |
genetic testing
radiographic imaging |
| gptkbp:firstDescribed |
1913
Jean-Léon Marie |
| gptkbp:hasOrphanetID |
gptkb:ORPHA:482
|
| https://www.w3.org/2000/01/rdf-schema#label |
hypochondroplasia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR3_gene
|
| gptkbp:OMIM |
146000
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
achondroplasia
|
| gptkbp:symptomsAppear |
childhood
|
| gptkbp:treatment |
orthopedic surgery
supportive care physical therapy |
| gptkbp:bfsParent |
gptkb:FGFR3
|
| gptkbp:bfsLayer |
6
|