All terms in HP
| Label | Id | Description |
|---|---|---|
| Hyperimidodipeptiduria | HP_0033187 | |
| Misalignment of the pulmonary veins | HP_0033186 | |
| Abnormal pulmonary vein morphology | HP_0030968 | |
| Elevated circulating uracil concentration | HP_0033139 | |
| Abnormal circulating pyrimidine concentration | HP_0004353 | |
| Decreased Arden ratio of electrooculogram | HP_0008179 | |
| Abnormal electrooculogram | HP_0030454 | |
| Abnormal cartilage matrix | HP_0008178 | |
| Neonatal unconjugated hyperbilirubinemia | HP_0008176 | |
| Amniotic constriction rings of legs | HP_0010495 | |
| Precocious puberty in males | HP_0008185 | |
| Abnormal renal echogenicity | HP_0033130 | |
| Hypertrophy of the lower limb | HP_0010496 | |
| Long metacarpals | HP_0010493 | |
| Acromelia of the lower limbs | HP_0010494 | |
| Aplasia/hypoplasia involving bones of the lower limbs | HP_0006493 | |
| Adrenocortical hypoplasia | HP_0008182 | |
| Patellar subluxation | HP_0010499 | |
| Abetalipoproteinemia | HP_0008181 | |
| Mildly elevated creatine kinase | HP_0008180 |