OBO ID: DOID:0111256 |
Term Name: | hyperferritinemia-cataract syndrome | Search Ontology: | |
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Synonyms: |
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Definition: | A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. (2) | ||
References: |
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Ontology: | Human Disease ( DOID:0111256 ) |
OTHER hyperferritinemia-cataract syndrome PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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FTL | Hyperferritinemia-cataract syndrome |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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