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Metadata
ID DOID:0080622
Name peroxisome biogenesis disorder 2B
Definition A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3.
https://www.ncbi.nlm.nih.gov/pubmed/22871920
Xrefs

OMIM:202370

Parent Relationships

is_a peroxisomal biogenesis disorder

is_a autosomal recessive disease

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