Peroxisome biogenesis disorder 5B

Term ID

DOID:0081434

Synonyms

Definition

A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. https://pubmed.ncbi.nlm.nih.gov/22871920/

References

• OMIM:614867

Ontology

Human Disease   ( DOID:0081434 )