de la chapelle dysplasia Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. (Orphanet Rare Disease Ontology, Orphanet_56304)
External Link http://www.omim.org/entry/256050
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Genes

1 genes associated with the de la chapelle dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
SLC26A2 solute carrier family 26 (anion exchanger), member 2