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brachydactyly type C

Disease Summary
Associated Targets (3)
Tchem

1

Tbio

1

Tdark

1


GARD Rare
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 C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others.
Disease Ontology Description A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
Mondo Term and Equivalent IDs
MONDO:0007221:  brachydactyly type C
GARD:0000986: 
MESH:C537093: 
Orphanet:93384: 
UMLS:C1862103: