Mesomelia-Synostoses Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. (Orphanet Rare Disease Ontology, Orphanet_2496)
External Link https://www.disgenet.org/browser/0/1/0/C1838162
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Genes

2 genes associated with the disease Mesomelia-Synostoses Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SULF1 sulfatase 1