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.]
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.]
Abnormal proportion of exhausted T cells HP_0041080 [A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.]
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.]
5-oxoprolinase PR_000011649 [A protein that is a translation product of the human OPLAH gene or a 1:1 ortholog thereof.]
Increased circulating T4 concentration 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 T4 concentration 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 T4 concentration 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
Pelvic mass HP_0031501 [An abnormal enlargement or swelling in the pelvic region.]