Phenotype Annotations Click to see Annotation Detail View
Manual Human Phenotype Annotations - RGDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Abnormal granulocyte morphology | susceptibility | IAGP | | 11552576 | DNA:missense mutations:cds:p.L55M, p.Q192R | RGD | | Childhood onset | susceptibility | IAGP | | 11552576 | DNA:missense mutations:cds:p.L55M, p.Q192R | RGD | | Skin rash | susceptibility | IAGP | | 11552576 | DNA:missense mutations:cds:p.L55M, p.Q192R | RGD | | |