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DO Term : Peroxisome biogenesis disorder 10B [DOID:0081440] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 617370,
  • OMIM:617370
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents