Peroxisome Biogenesis Disorder 2A

Preferred Label : Peroxisome Biogenesis Disorder 2A;

NCIt synonyms : PBD2A;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2A manifests phenotypically as Zellweger syndrome.;

NCI Metathesaurus CUI : CL556234;

Details

Origin ID

C155750;

UMLS CUI

C3550273;

CISMeF manual mappings
- Peroxisome biogenesis disorder 2a (zellweger) [OMIM Phenotype]
Currated CISMeF NLP mapping
- peroxisome biogenesis disorder 2A [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 2a (zellweger) [OMIM Phenotype]
- peroxisome biogenesis disorder 2A [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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