FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term MEDNIK syndrome ID (Ontology) DOID:0060483 (Human Disease)
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.
Also Known As "erythrokeratodermia variabilis 3" ; "erythrokeratodermia variabilis, Kamouraska type" ; "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia"
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 MEDNIK syndrome       1
 for disease ribbon | MEDNIK syndrome       1
 model of | MEDNIK syndrome       1
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       |__MEDNIK syndrome  1 rec.
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Synonyms
  • "erythrokeratodermia variabilis 3" EXACT
    "erythrokeratodermia variabilis, Kamouraska type" EXACT
    "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT
Secondary IDs
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MIM:609313
ORDO:171851