Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
congenital malformation |
| gptkbp:affects |
fingers
hands |
| gptkbp:firstDescribed |
gptkb:Bell,_1951
|
| https://www.w3.org/2000/01/rdf-schema#label |
brachydactyly type C
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
GDF5 gene
|
| gptkbp:OMIM |
113100
|
| gptkbp:symptom |
thumb abnormalities
relatively long ring finger shortening of the index finger shortening of the little finger shortening of the middle phalanges |
| gptkbp:synonym |
gptkb:BDC
Brachydactyly C |
| gptkbp:bfsParent |
gptkb:brachydactyly
|
| gptkbp:bfsLayer |
7
|