Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
congenital malformation |
| gptkbp:affects |
thumb
|
| gptkbp:canBeUnilateralOrBilateral |
true
|
| gptkbp:characteristic |
rounded thumb tip
short, broad thumb nail |
| gptkbp:firstDescribed |
gptkb:Bell,_1951
|
| gptkbp:hasNoSeriousHealthEffects |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
Brachydactyly type D
|
| gptkbp:ICD-10_code |
Q74.3
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:isNonSyndromic |
true
|
| gptkbp:OMIM |
113200
|
| gptkbp:prevalence |
common
|
| gptkbp:subspecies |
gptkb:Brachydactyly
|
| gptkbp:symptom |
short distal phalanx of the thumb
|
| gptkbp:synonym |
clubbed thumb
stub thumb |
| gptkbp:bfsParent |
gptkb:Clubbed_Thumb
|
| gptkbp:bfsLayer |
7
|