Metadata | |
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ID | DOID:0110974 |
Name | brachydactyly type A1B |
Definition | A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. https://www.ncbi.nlm.nih.gov/pubmed/11897820 |
Xrefs | |
Synonyms |
BDA1B [EXACT] |
Parent Relationships |