Peroxisome Biogenesis Disorders in the Zellweger Spectrum

Preferred Label : Peroxisome Biogenesis Disorders in the Zellweger Spectrum;

NCIt synonyms : PBD-ZSD; Zellweger Spectrum Disorder;

NCIt definition : A group of conditions with overlapping signs and symptoms. It includes Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.;

Details

Origin ID

C146639;

UMLS CUI

C3658299;

Automatic exact mappings (from CISMeF team)
- Peroxisome biogenesis disorder [ORDO Disease]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- zellweger spectrum [MeSH concept]
Validated automatic mappings to NTBT
- Disorders of peroxisome biogenesis [ICD-11 Subcategory]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- Peroxisome Biogenesis Factor Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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