| Metadata | |
|---|---|
| ID | DOID:0110970 |
| Name | brachydactyly type C |
| Definition | A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. https://www.ncbi.nlm.nih.gov/pubmed/9288091 |
| Xrefs |
SNOMEDCT_US_2023_03_01:389169005 |
| Subsets |
DO_rare_slim |
| Synonyms |
BDC [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a brachydactyly |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |