Mesomelia-synostoses syndrome Gene Set

Dataset CTD 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 http://ctdbase.org/detail.go?type=disease&acc=MESH:C537348
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Genes

1 genes/proteins associated with the disease Mesomelia-synostoses syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
DEL8Q13 Mesomelia-synostoses syndrome 2.88009