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brachydactyly type D

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.
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 D is characterized by short and broad terminal phalanges of the thumbs and big toes.
Mondo Term and Equivalent IDs
MONDO:0007222:  brachydactyly type D
MESH:C562420: