Visualize Submit Comment

Metadata
ID	DOID:0081436
Name	Peroxisome biogenesis disorder 7B
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 PEX26 gene on chromosome 22q11.21. https://pubmed.ncbi.nlm.nih.gov/22871920/
Xrefs	MIM:614873
Parent Relationships	is_a peroxisomal biogenesis disorder is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance