axial skeleton hypoplasia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description underdevelopment or reduced size in the skeletal elements of the trunk, usually due to reduced cell number (Mammalian Phenotype Ontology, MP_0000071)
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4 gene mutations causing the axial skeleton hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1
FGFRL1 fibroblast growth factor receptor-like 1
IMPAD1 inositol monophosphatase domain containing 1
NKX3-2 NK3 homeobox 2