Peroxisome Biogenesis Disorder 6B

Preferred Label : Peroxisome Biogenesis Disorder 6B;

NCIt synonyms : PBD6B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX10 gene, encoding peroxisome biogenesis factor 10. Peroxisome biogenesis disorder 6B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.;

Details

Origin ID

C155759;

UMLS CUI

C3553948;

CISMeF manual mappings
- Peroxisome biogenesis disorder 6b [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 6b [OMIM Phenotype]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PEX10 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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