Peroxisome Biogenesis Disorder 5A

Preferred Label : Peroxisome Biogenesis Disorder 5A;

NCIt synonyms : PBD5A;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome.;

NCI Metathesaurus CUI : CL556240;

Details

Origin ID

C155756;

UMLS CUI

C3553940;

CISMeF manual mappings
- Peroxisome biogenesis disorder 5a (zellweger) [OMIM Phenotype]
Currated CISMeF NLP mapping
- peroxisome biogenesis disorder 5A [DO Concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Peroxisome biogenesis disorder 5a (zellweger) [OMIM Phenotype]
- peroxisome biogenesis disorder 5A [DO Concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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