Details of Disease | DrugMAP

General Information of Disease (ID: DISII2HN)

Disease Name	Split hand-foot malformation 4
Synonyms	split-hand/foot malformation 4; SHFM4; split hand-foot malformation type 4; split hand-foot malformation caused by mutation in TP63; split-hand/foot malformation type 4; TP63 split hand-foot malformation
Definition	Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.
Disease Hierarchy	DIS8PKGD: Split hand-foot malformation DISII2HN: Split hand-foot malformation 4
Disease Identifiers	MONDO ID MONDO_0011535 UMLS CUI C1854442 OMIM ID 605289 MedGen ID 343120

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TP63	OT0WOOKQ	Moderate	Autosomal dominant	[1]
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References

1	Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder. BMJ Case Rep. 2014 Jun 27;2014:bcr2014204731. doi: 10.1136/bcr-2014-204731.