Statements (13)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
ectrodactyly
split hand/foot malformation |
gptkbp:discoveredBy |
genetic studies
|
gptkbp:fullName |
Split Hand/Foot Malformation 4
|
gptkbp:hasPhenotype |
limb malformation
|
https://www.w3.org/2000/01/rdf-schema#label |
SHFM4
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:locatedOnChromosome |
7q21.3
|
gptkbp:mutationAssociatedWith |
point mutation
|
gptkbp:OMIM |
605289
|
gptkbp:bfsParent |
gptkb:p63
|
gptkbp:bfsLayer |
6
|