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acrocapitofemoral dysplasia

Disease Summary
Associated Targets (1)


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Mondo Description Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
Uniprot Description An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles.
Disease Ontology Description An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene.
Mondo Term and Equivalent IDs
MONDO:0011907:  acrocapitofemoral dysplasia
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)