All terms in HP
| Label | Id | Description |
|---|---|---|
| Abnormal vitamin B12 level | HP_0040126 | |
| Low levels of vitamin B1 | HP_0100503 | |
| Low levels of vitamin B2 | HP_0100504 | |
| Low levels of vitamin B5 | HP_0100505 | |
| Low levels of vitamin B8 | HP_0100506 | |
| Reduced blood folate concentration | HP_0100507 | |
| Abnormality of vitamin C metabolism | HP_0100509 | |
| Decreased pyruvate carboxylase activity | HP_0003209 | |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | HP_0003208 | |
| Congenital finger flexion contractures | HP_0005879 | |
| Generalized amyloid deposition | HP_0003216 | |
| Absent tonsils | HP_0030813 | |
| Orange discolored tonsils | HP_0030814 | |
| Multiple small vertebral fractures | HP_0005877 | |
| Oroticaciduria | HP_0003218 | |
| Tongue pain | HP_0030811 | |
| Enlarged sagittal diameter of the cervical canal | HP_0005878 | |
| Hyperglutaminemia | HP_0003217 | |
| Enlarged tonsils | HP_0030812 | |
| Increased dermatoglyphic whorls | HP_0005875 |