Statements (21)
Predicate | Object |
---|---|
gptkbp:instanceOf |
genetic disorder
congenital malformation |
gptkbp:affects |
hands
feet phalanges |
gptkbp:firstDescribed |
1903
Farabee |
https://www.w3.org/2000/01/rdf-schema#label |
brachydactyly type A
|
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 |
7
|