hypochondroplasia Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. (Human Disease Ontology, DOID_0080041)
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Genes

2 genes co-occuring with the biological term hypochondroplasia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
FGFR3 fibroblast growth factor receptor 3
SHOX short stature homeobox