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Summary Literature (0)
DOID:0060483 - MEDNIK syndrome


Disease Ontology 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.

Synonyms: erythrokeratodermia variabilis 3, erythrokeratodermia variabilis, Kamouraska type, mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia

Xenbase Genes : ap1s1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012251 - MEDNIK syndrome

OMIM:
OMIM:609313 - MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)