|Dataset||MPO Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||altered lipid composition or intercellular lipid matrix assembly in the stratum corneum, usually resulting in loss of epidermal barrier function; normally, the intercorneocyte lipid matrix consists of a complex lipid mixture of ceramides, cholesterol and long-chain saturated fatty acids that self-assembles into an ordered multilayer structure known as lipid lamellae (Mammalian Phenotype Ontology, MP_0009596)|
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3 gene mutations causing the abnormal stratum corneum lipid matrix formation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.