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SLC35A1-CDG
ORPHA:238459 · Disease · Disorder
HPO 表現型（共 13 項）
Very frequent (99-80%)(13)
- Abnormal bleedingHP:0001892
- Abnormal megakaryocyte morphologyHP:0012143
- Abnormal platelet granulesHP:0011883
- CellulitisHP:0100658
- Decreased total neutrophil countHP:0001875
- Giant plateletsHP:0001902
- HypoxemiaHP:0012418
- PneumoniaHP:0002090
- Prolonged bleeding timeHP:0003010
- Pulmonary hemorrhageHP:0040223
- Respiratory distressHP:0002098
- Subcutaneous hemorrhageHP:0001933
- ThrombocytopeniaHP:0001873