Peroxisome Biogenesis Disorder 1B

Preferred Label : Peroxisome Biogenesis Disorder 1B;

NCIt synonyms : PBD1B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.;

NCI Metathesaurus CUI : CL556236;

Details

Origin ID

C155749;

UMLS CUI

C4723746;

CISMeF manual mappings
- Peroxisome biogenesis disorder 1b [OMIM Phenotype]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PEX1 Gene [NCIt concept]

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