cryptophthalmos Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. (Human Phenotype Ontology, HP_0001126)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005242
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Genes

3 gene mutations causing the cryptophthalmos phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2