| Metadata | |
|---|---|
| ID | DOID:0081433 |
| Name | Peroxisome biogenesis disorder 4B |
| 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 PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. https://pmc.ncbi.nlm.nih.gov/articles/PMC4970675/, https://pubmed.ncbi.nlm.nih.gov/22871920/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:1204415006 |
| SKOS |
exactMatch MIM:614863 |
| Alternateids |
DOID:0111612 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spinocerebellar ataxia 3 [RELATED] autosomal recessive spinocerebellar ataxia type 3 [RELATED] SCABD1 [EXACT] SCAR3 [RELATED] spinocerebellar ataxia with blindness and deafness 1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |