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MEDNIK syndrome (DOID:0060483)
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Synonyms: erythrokeratodermia variabilis 3; erythrokeratodermia variabilis, Kamouraska type; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
Alt IDs: OMIM:609313, ORDO:171851
Definition: A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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