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brachydactyly-syndactyly syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.
Uniprot Description A syndrome characterized by a complex brachydactyly-syndactyly-oligodactyly phenotype. Limb anomalies include reduced number of digits that are severely shortened, camptodactyly, syndactyly, absence of terminal phalanges of the thumbs, and absence of nails of the thumbs and toes.
Disease Ontology Description An autosomal genetic disease that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.
Mondo Term and Equivalent IDs
MONDO:0012544:  brachydactyly-syndactyly syndrome
MESH:C565193: 
Orphanet:93409: 
UMLS:C1853137: