Achondrogenesis type 2 Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. (Orphanet Rare Disease Ontology, Orphanet_93296)
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1 genes associated with the Achondrogenesis type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
COL2A1 collagen, type II, alpha 1