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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
porphyria
Summary
- Synonym
-
- Hematoporphyria
- Porphyrinopathy
- disorder of porphyrin and hem metabolism
- disorder of porphyrin metabolism
- Definition
- An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.
- Super Class
- inherited metabolic disorder
External Links
- Disease Ontology
- DOID:13268
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q04446 | 1,4-alpha-glucan-branching enzyme |
