Peroxisome biogenesis disorder 11B

Term ID

DOID:0081439

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 PEX13 gene on chromosome 2p15. https://pubmed.ncbi.nlm.nih.gov/22871920/

References

• OMIM:614885

Ontology

Human Disease   ( DOID:0081439 )