Spondyloepiphyseal dysplasia Maroteaux type Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. (Orphanet Rare Disease Ontology, Orphanet_263482)
External Link http://www.omim.org/entry/184095
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Genes

1 genes associated with the Spondyloepiphyseal dysplasia Maroteaux type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
TRPV4 transient receptor potential cation channel, subfamily V, member 4