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PGM3 deficiency is a rare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function. PGM3 is an enzyme which in humans is encoded by gene PGM3. This disorder manifests as severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination. In 2014, Investigators Atfa Sassi at the Pasteur…
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Explore the main themes, entities and connections around PGM3 deficiency. Start with the topic map, then use the sections below for research and deeper semantic analysis.
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High-confidence facts extracted from structured source data. Use them as anchors for further research.
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pgm3 patients glycosylation deficiency disorder gene mutations severe two immune function identified institute families national treatment abnormal clinical one disease
| Subject | Predicate | Object | Confidence | Src |
|---|---|---|---|---|
| PGM3 deficiency | Other names | PGM3-related congenital disorder of glycosylation | 1.00 | infobox |
| PGM3 deficiency | is a | rare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function | 0.90 | text |
| PGM3 deficiency | related to Genetics | PGM3 | 0.60 | section |
| PGM3 deficiency | related to Genetics | OMIM | 0.60 | section |
| PGM3 deficiency | related to Genetics | Protein PGM3 | 0.60 | section |
| PGM3 deficiency | related to Genetics | GlcNAc-6-phosphate | 0.60 | section |
| PGM3 deficiency | related to Genetics | GlnNAc-6-P | 0.60 | section |
| PGM3 deficiency | related to Genetics | GlnNAc-a-phosphate | 0.60 | section |
| PGM3 deficiency | related to Genetics | GlcNac-1-P | 0.60 | section |
| PGM3 deficiency | related to Genetics | N-acetylglucosamine | 0.60 | section |
| PGM3 deficiency | related to Genetics | UDP-GlcNAc | 0.60 | section |
| PGM3 deficiency | related to Genetics | Impaired | 0.60 | section |
These clusters group vocabulary that occurs around closely connected concepts in the source material.
Bridges can reveal useful research angles that are easy to miss in a flat list of related terms.