OBO ID: DOID:0081274 |
Term Name: | peroxisome biogenesis disorder 14B | Search Ontology: | |
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Definition: | A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. (2) | ||
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Ontology: | Human Disease ( DOID:0081274 ) |
OTHER peroxisome biogenesis disorder 14B PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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