Visualize Submit Comment
Metadata
ID DOID:0090021
Name split hand-foot malformation 1
Definition A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region.
https://www.ncbi.nlm.nih.gov/pubmed/24496061, https://www.ncbi.nlm.nih.gov/pubmed/7616545
Xrefs

ICD10CM:Q71.6

OMIM:183600

ORDO:2440

Synonyms

SHFD1 [EXACT]

SHFM1 [EXACT]

Parent Relationships

is_a split hand-foot malformation

is_a autosomal dominant disease

Add an item to the term tracker