Peroxisome Biogenesis Disorder 3B

Preferred Label : Peroxisome Biogenesis Disorder 3B;

NCIt synonyms : PBD3B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.;

Details

Origin ID

C155753;

UMLS CUI

C3550693;

CISMeF manual mappings
- Peroxisome biogenesis disorder 3b [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 3b [OMIM Phenotype]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PEX12 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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