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tarsal-carpal coalition syndrome

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.
Uniprot Description Autosomal dominant disorder characterized by fusion of the carpals, tarsals and phalanges, short first metacarpals causing brachydactyly, and humeroradial fusion. TCC is allelic to SYM1, and different mutations in NOG can result in either TCC or SYM1 in different families.
Disease Ontology Description An autosomal dominant disease that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion.
Mondo Term and Equivalent IDs
MONDO:0008521:  tarsal-carpal coalition syndrome
EFO:0008965: 
GARD:0009225: 
Orphanet:1412: 
SCTID:702312009: 
UMLS:C1861305: