Thanatophoric dysplasia type 1 Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. (Orphanet Rare Disease Ontology, Orphanet_1860)
External Link http://www.omim.org/entry/187600
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Genes

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

Symbol Name
FGFR3 fibroblast growth factor receptor 3