Statements (16)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
|
gptkbp:affects |
hands
feet |
gptkbp:firstDescribed |
1951
|
https://www.w3.org/2000/01/rdf-schema#label |
brachydactyly type B
|
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 |
7
|