Acampomelic campomelic dysplasia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. (Human Disease Ontology, DOID_0050463)
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1 genes associated with the Acampomelic campomelic dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SOX9 SRY (sex determining region Y)-box 9