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Disease Ontology Browser
MEDNIK syndrome (DOID:0060483)
Alliance: disease page
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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory