SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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://ctdbase.org/detail.go?type=disease&acc=OMIM:184095
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Genes

1 genes/proteins associated with the disease SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
TRPV4 transient receptor potential cation channel, subfamily V, member 4 2.88009