Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:affects |
hands
feet |
| gptkbp:firstDescribed |
1951
|
| gptkbp:ICD-10_code |
Q74.3
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
ROR2 gene
|
| gptkbp:OMIM |
113000
|
| gptkbp:symptom |
absent or malformed nails
hypoplastic distal phalanges shortened fingers |
| gptkbp:synonym |
gptkb:BDB
Brachydactyly type B1 |
| gptkbp:bfsParent |
gptkb:brachydactyly
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
brachydactyly type B
|