split hand-foot malformation 4

Term ID

DOID:0090023

Synonyms

• SHFM4

Definition

A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. https://www.ncbi.nlm.nih.gov/pubmed/10839977

References

• MESH:C574275
• NCI:C75000
• OMIM:605289
• ORDO:2440
• SNOMEDCT_US_2023_03_01:81208006
• UMLS_CUI:C0265554

Ontology

Human Disease   ( DOID:0090023 )