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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
peroxisome biogenesis disorder 5A
Summary
- Synonym
-
- peroxisome biogenesis disorder 5A (Zellweger)
- Definition
- A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21.
- Super Class
- Zellweger syndrome
External Links
- Disease Ontology
- DOID:0080480
- Mondo Disease Ontology
- OMIM
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16112 | Aggrecan core protein |
