All terms in HP
| Label | Id | Description |
|---|---|---|
| Polycystic liver disease | HP_0006557 | |
| Luse bodies | HP_0031513 | [Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.] |
| Abnormal cutaneous collagen fibril morphology | HP_0031512 | |
| Decreased mitochondrial complex III activity in liver tissue | HP_0006558 | [Decreased activity of complex III of the mitochondrion in the liver.] |
| Increased proportion of exhausted T cells | HP_0031514 | [An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.] |
| Diffuse hepatic steatosis | HP_0006555 | [A diffuse form of hepatic steatosis.] |
| Diagonal earlobe crease | HP_0031511 | [Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.] |
| Acute hepatic failure | HP_0006554 | [Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.] |
| Fibrocystic lung disease | HP_0006552 | |
| Cauliflower deformity of dermal collagen fibrils | HP_0031519 | [An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.] |
| Linear earlobe crease | HP_0031510 | [A transverse linear fissure (crease) in the lobule of the ear.] |
| Increased circulating thyroxine level | HP_0031506 | [An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).] |
| Abnormal circulating thyroxine level | HP_0031505 | [A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).] |
| Decreased circulating thyroxine level | HP_0031507 | [A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).] |
| Foamy urine | HP_0031504 | [Urine has an increased amount of frothy fine bubbles.] |
| Increased hepatic glycogen content | HP_0006568 | [An increase in the amount of glycogen stored in hepatocytes compared to normal.] |
| Night gasping | HP_0031503 | [Waking up at night gasping for breath.] |
| Neonatal cholestatic liver disease | HP_0006566 | |
| Abdominal mass | HP_0031500 | [An abnormal enlargement or swelling in the abdomen.] |
| Pelvic mass | HP_0031501 | [An abnormal enlargement or swelling in the pelvic region.] |