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tall stature-scoliosis-macrodactyly of the great toes syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis.
Uniprot Description An overgrowth syndrome characterized by tall stature, long hands and feet with arachnodactyly, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis.
Disease Ontology Description A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13.
Mondo Term and Equivalent IDs
MONDO:0014401:  tall stature-scoliosis-macrodactyly of the great toes syndrome
Orphanet:329191: 
UMLS:C4014690: