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brachydactyly type A1A

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Uniprot Description A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1 inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0020701:  brachydactyly type A1A