| Metadata | |
|---|---|
| ID | DOID:0111817 |
| Name | syndactyly type 3 |
| Definition | A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. https://www.ncbi.nlm.nih.gov/pubmed/14361398, https://www.ncbi.nlm.nih.gov/pubmed/12457340 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715725001 |
| Subsets |
DO_rare_slim |
| Synonyms |
ringand little finger syndactyly [EXACT] SDTY3 [EXACT] syndactyly of fingers 4 and 5 [EXACT] syndactyly, type III [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndactyly |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |