Peroxisome Biogenesis Disorder 7B

Preferred Label : Peroxisome Biogenesis Disorder 7B;

NCIt synonyms : PBD7B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.;

Details

Origin ID

C155761;

UMLS CUI

C3553951;

CISMeF manual mappings
- Peroxisome biogenesis disorder 7b [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 7b [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PEX26 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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