brachydactyly type B

GPTKB entity

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