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peroxisome biogenesis disorder 11A (Zellweger)
Disease Summary
Associated Targets (2)
Tbio
2
Uniprot Description A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS).
Disease Ontology Description A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080485
OMIM:614883
UMLS:C3554000
MONDO:0013949
High level summary of knowledge for a disease, including descriptions and datasource references.