neonatal short-limb short stature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A type of short-limbed dwarfism that is manifest beginning in the neonatal period. (Human Phenotype Ontology, HP_0008921)
External Link
Similar Terms
Downloads & Tools


9 genes associated with the neonatal short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGFR3 fibroblast growth factor receptor 3
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SOX9 SRY (sex determining region Y)-box 9