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Metadata
ID DOID:0080476
Name peroxisome biogenesis disorder 1A
Definition A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.
https://www.ncbi.nlm.nih.gov/pubmed/17055079
Xrefs

OMIM:214100

Synonyms

peroxisome biogenesis disorder 1A (Zellweger) [EXACT]

Parent Relationships

is_a peroxisomal biogenesis disorder

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