brachydactyly type D

GPTKB entity

Statements (18)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects thumb
nail of the thumb
gptkbp:alsoKnownAs clubbed thumb
gptkbp:category congenital malformation
gptkbp:characterizedBy short distal phalanx of the thumb
gptkbp:firstDescribed gptkb:Bell,_1951
https://www.w3.org/2000/01/rdf-schema#label brachydactyly type D
gptkbp:ICD-10_code Q74.3
gptkbp:inheritance autosomal dominant
gptkbp:notableFor various populations worldwide
gptkbp:OMIM 113200
gptkbp:prevalence common
gptkbp:relatedTo gptkb:brachydactyly
gptkbp:symptom short, broad thumb
gptkbp:treatment not usually required
gptkbp:bfsParent gptkb:brachydactyly
gptkbp:bfsLayer 7