Metadata | |
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ID | DOID:0081240 |
Name | peroxisome biogenesis disorder 1B |
Definition | A peroxisome 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 PEX1 gene on chromosome 7q21. https://pubmed.ncbi.nlm.nih.gov/22871920/, https://pubmed.ncbi.nlm.nih.gov/28523433/ |
Xrefs | |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |