OBO ID: DOID:0060483 |
Term Name: | MEDNIK syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0060483 ) |
OTHER MEDNIK syndrome PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS (1)
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