Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
adults
children |
| gptkbp:differentialDiagnosis |
gptkb:multiple_epiphyseal_dysplasia
achondroplasia |
| gptkbp:firstDescribed |
1959
Harold Elrick |
| https://www.w3.org/2000/01/rdf-schema#label |
pseudoachondroplasia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COMP_gene
|
| gptkbp:notableFeature |
normal intelligence
normal facial appearance |
| gptkbp:OMIM |
177170
|
| gptkbp:prevalence |
rare
|
| gptkbp:radiographicFeature |
irregular epiphyses
short long bones |
| gptkbp:symptom |
short stature
early-onset osteoarthritis joint laxity limb deformities |
| gptkbp:treatment |
orthopedic surgery
supportive care |
| gptkbp:bfsParent |
gptkb:COMP_gene
|
| gptkbp:bfsLayer |
8
|