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General Information
ZIRC
OBO ID: DOID:0060483
Term Name: MEDNIK syndrome Search Ontology:
Synonyms:
  • erythrokeratodermia variabilis 3
  • erythrokeratodermia variabilis, Kamouraska type
  • mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia
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. (2)
References:
Ontology: Human Disease   (DOID:0060483)
Relationships
is a type of:
OTHER MEDNIK syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AP1S1 MEDNIK syndrome 609313
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)