split hand-foot malformation 6

Term ID

DOID:0090026

Synonyms

• SHFM6

Definition

A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/18515319

References

• MESH:C574275
• NCI:C75000
• OMIM:225300
• ORDO:2440
• SNOMEDCT_US_2023_03_01:81208006
• UMLS_CUI:C0265554

Ontology

Human Disease   ( DOID:0090026 )