SHFM4

GPTKB entity

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