peroxisomal biogenesis disorder

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Information
Disease name
peroxisomal biogenesis disorder
Disease ID
DOID:0080377
Description
"A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes." [url:https\://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder, url:https\://rarediseases.org/rare-diseases/zellweger-spectrum-disorders/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26627182]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
NCT ID Status Phase Summary Start date Completion date
NCT02699190 Active, not recruiting LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies January 6, 2017 December 2024
NCT03047369 Recruiting The Myelin Disorders Biorepository Project December 8, 2016 December 8, 2030
Disase is a (Disease Ontology)
DOID:906
Cross Reference ID (Disease Ontology)
MIM:PS214100