Peroxisome biogenesis disorder 8B

Term ID

DOID:0081437

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 mutation in the PEX16 gene on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/22871920/

References

• MIM:614877

Ontology

Human Disease   ( DOID:0081437 )