| Metadata | |
|---|---|
| ID | DOID:0111818 |
| Name | syndactyly type 4 |
| Definition | A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. https://www.ncbi.nlm.nih.gov/pubmed/17476456 |
| Xrefs |
SNOMEDCT_US_2023_03_01:719158007 |
| Subsets |
DO_rare_slim |
| Synonyms |
Haas type syndactyly [EXACT] polysyndactyly, Haas type [EXACT] SDTY4 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndactyly |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |