peroxisome biogenesis disorder 2B

Term ID

DOID:0080622

Synonyms

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

References

• OMIM:202370

Ontology

Human Disease   ( DOID:0080622 )