Term Name: | brachydactyly type A1B |
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Synonyms: | BDA1B |
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. |
Ontology: | Human Disease [DOID:0110974] ( DOID:0110974 ) |