Peroxisome Biogenesis Disorder 8B

Preferred Label : Peroxisome Biogenesis Disorder 8B;

NCIt synonyms : PBD8B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.;

Details

Origin ID

C155763;

UMLS CUI

C3553960;

Automatic exact mappings (from CISMeF team)
- Peroxisome biogenesis disorder 8b [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 8b [OMIM Phenotype]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PEX16 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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