Search Ontology:
Human Disease

MEDNIK syndrome

Term ID
DOID:0060483
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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