Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
endocrine system
skeletal system |
| gptkbp:causedBy |
mutation in PDE4D gene
mutation in PRKAR1A gene |
| gptkbp:firstDescribed |
1968
|
| gptkbp:frequency |
very rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
acrodysostosis
|
| gptkbp:ICD-10_code |
Q87.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
101800
|
| gptkbp:symptom |
gptkb:brachydactyly
intellectual disability short stature skeletal dysplasia facial dysostosis nasal hypoplasia |
| gptkbp:synonym |
acrodysostosis syndrome
|
| gptkbp:treatment |
supportive care
physical therapy hormone therapy |
| gptkbp:bfsParent |
gptkb:brachydactyly
|
| gptkbp:bfsLayer |
7
|