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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

MIM:614879

Parent Relationships

is_a peroxisomal biogenesis disorder

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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