All terms in HP
| Label | Id | Description |
|---|---|---|
| Biconcave flattened vertebrae | HP_0003321 | |
| Generalized muscle weakness | HP_0003324 | |
| Elevated maternal serum alpha-fetoprotein | HP_0005984 | |
| Reduced phenylalanine hydroxylase level | HP_0005982 | |
| C1-C2 subluxation | HP_0003320 | |
| Elevated gamma-glutamyltransferase level | HP_0030948 | |
| Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes | HP_0003329 | |
| Reduced prothrombin consumption | HP_0003337 | |
| Oral erythroplakia | HP_0030934 | |
| Frontal bossing | HP_0002007 | |
| Pyrimidine-responsive megaloblastic anemia | HP_0003339 | |
| 1-minute APGAR score of 5 | HP_0030932 | |
| Ureteral atresia | HP_0005999 | |
| Focal necrosis of right ventricular muscle cells | HP_0003338 | |
| 1-minute APGAR score of 6 | HP_0030933 | |
| Facial midline hemangioma | HP_0004664 | |
| Increased serum beta-hexosaminidase | HP_0003333 | |
| 1-minute APGAR score of 3 | HP_0030930 | |
| Restricted neck movement due to contractures | HP_0005997 | |
| Absent primary metaphyseal spongiosa | HP_0003332 |