peroxisome biogenesis disorder 3B

Term ID

DOID:0081241

Synonyms

Definition

A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. https://pubmed.ncbi.nlm.nih.gov/22871920/

References

• OMIM:266510

Ontology

Human Disease   ( DOID:0081241 )