Metadata | |
---|---|
ID | DOID:0081438 |
Name | Peroxisome biogenesis disorder 9B |
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/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |