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 |