Peroxisome biogenesis disorder 10B

Term ID

DOID:0081440

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 compound heterozygous mutation in the PEX3 gene on chromosome 6q24. https://pubmed.ncbi.nlm.nih.gov/22871920/

References

• MIM:617370

Ontology

Human Disease   ( DOID:0081440 )