Peroxisome Biogenesis Disorder 5B

Preferred Label : Peroxisome Biogenesis Disorder 5B;

NCIt synonyms : PBD5B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.;

Details

Origin ID

C155757;

UMLS CUI

C3542026;

CISMeF manual mappings
- Peroxisome biogenesis disorder 5b [OMIM Phenotype]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Peroxisome biogenesis disorder 5b [OMIM Phenotype]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PEX2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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