Peroxisome biogenesis disorder 9B

Term ID

DOID:0081438

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 PEX7 gene on chromosome 6q23. https://pubmed.ncbi.nlm.nih.gov/12325024/

References

• MIM:614879

Ontology

Human Disease   ( DOID:0081438 )