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brachydactyly type A2

Disease Summary
Associated Targets (4)
Tbio

2

Tchem

1

Tdark

1


GARD Rare
Mondo Description Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.
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. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.
Disease Ontology Description A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.
Mondo Term and Equivalent IDs
MONDO:0007216:  brachydactyly type A2
GARD:0000979: 
GARD:0000989: 
MESH:C537089: 
Orphanet:93396: 
SCTID:720569006: