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bn:17932122n
Noun Named Entity
Categories: Syndromes
EN
MEDNIK syndrome  erythrokeratodermia variabilis, Kamouraska type  erythrokeratodermia variabilis 3  Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome  MEDNIK
EN
MEDNIK syndrome, also known as "syndrome de Kamouraska", is a genetic disorder that is caused by mutations to the AP1S1 gene. Wikipedia
Definitions
Relations
Sources
EN
MEDNIK syndrome, also known as "syndrome de Kamouraska", is a genetic disorder that is caused by mutations to the AP1S1 gene. Wikipedia
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. Wikidata
IS A
rare disease
syndrome
Erythrokeratodermia
GENETIC ASSOCIATION
AP1S1
Wikipedia
EN
MEDNIK syndrome
Wikidata
EN
MEDNIK Syndrome, MEDNIK syndrome
Wikipedia Redirections
EN
MEDNIK, MEDNIK Syndrome
Wikidata Alias
EN
erythrokeratodermia variabilis, Kamouraska type, erythrokeratodermia variabilis 3, Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome, MEDNIK, MEDNIK Syndrome, mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia, MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA, MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA; MEDNIK

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