midface hypoplasia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. (Human Phenotype Ontology, HP_0011800)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012085
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Genes

5 gene mutations causing the midface hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
COL2A1 collagen, type II, alpha 1
FGFR1 fibroblast growth factor receptor 1
FGFRL1 fibroblast growth factor receptor-like 1
IFT27 intraflagellar transport 27