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Metadata
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

OMIM:607004

Synonyms

BDA1B [EXACT]

Parent Relationships

is_a brachydactyly type A1

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