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Metadata
ID DOID:0081440
Name Peroxisome biogenesis disorder 10B
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/
Xrefs

MIM:617370

Parent Relationships

is_a peroxisomal biogenesis disorder

is_a autosomal recessive disease

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