Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:congenital_malformation |
| gptkbp:affects |
hands
feet phalanges |
| gptkbp:firstDescribed |
1903
Farabee |
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
BMPR1B gene
IHH gene |
| gptkbp:OMIM |
112500
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
brachydactyly type A2
brachydactyly type A1 brachydactyly type A3 brachydactyly type A4 |
| gptkbp:symptom |
short toes
short fingers |
| gptkbp:bfsParent |
gptkb:brachydactyly
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
brachydactyly type A
|