brachydactyly type A

GPTKB entity

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