| Metadata | |
|---|---|
| ID | DOID:0110965 |
| Name | brachydactyly type A2 |
| Definition | A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. https://www.ncbi.nlm.nih.gov/pubmed/16127465, https://www.ncbi.nlm.nih.gov/pubmed/14523231, https://www.ncbi.nlm.nih.gov/pubmed/21357617 |
| Xrefs |
SNOMEDCT_US_2023_03_01:720569006 |
| Subsets |
DO_rare_slim |
| Synonyms |
BDA2 [EXACT] brachymesophalangy II [EXACT] Mohr-Wriedt type brachydactyly [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a brachydactyly |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |