| Metadata | |
|---|---|
| ID | DOID:0111819 |
| Name | syndactyly type 5 |
| Definition | A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. https://www.ncbi.nlm.nih.gov/pubmed/16222680 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719159004 |
| Subsets |
DO_rare_slim |
| Synonyms |
SDTY5 [EXACT] syndactyly with associated metacarpal and metatarsal fusion [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndactyly |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |