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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 )
Relationships
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Genes Involved
Zebrafish Models