Peroxisome Biogenesis Disorder 2B

Preferred Label : Peroxisome Biogenesis Disorder 2B;

NCIt synonyms : PBD2B;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.;

Details

Origin ID

C155751;

UMLS CUI

C3550234;

Automatic exact mappings (from CISMeF team)
- peroxisome biogenesis disorder 2B [DO Concept]
CISMeF manual mappings
- Peroxisome biogenesis disorder 2b [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 2b [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
- PEX5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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