| Metadata | |
|---|---|
| ID | DOID:0110964 |
| Name | brachydactyly type A1 |
| Definition | A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. https://www.ncbi.nlm.nih.gov/pubmed/12525541, https://www.ncbi.nlm.nih.gov/pubmed/14043746 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BDA1 [EXACT] Farabee type brachydactyly [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a brachydactyly |
| Subclass Logical Relationships |
disease has location some finger disease has location some big toe disease has location some thumb has material basis in some autosomal dominant inheritance |