Smith McCort dysplasia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. (Human Disease Ontology, DOID_0060247)
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1 genes associated with the Smith McCort dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
DYM dymeclin