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Human Disease
peroxisome biogenesis disorder 14B
- Term ID
- DOID:0081274
- Synonyms
-
- 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)
- References
- Ontology
- Human Disease ( DOID:0081274 )
- is a type of
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