OBO ID: DOID:0081240
Term Name: peroxisome biogenesis disorder 1B Search Ontology:
Synonyms:
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. (2)
References:
Ontology: Human Disease   ( DOID:0081240 )
Relationships
is a type of:
OTHER peroxisome biogenesis disorder 1B PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PEX1 Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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