All terms in HP

Label Id Description
Wide sacroiliac joint HP_6000875 [Distance between the sacrum and the ilium bones of the pelvis at the sacroiliac joint is above the upper limit of normal.]
Delayed ossification of the clavicle HP_6000874 [Delayed maturation and calcification of the clavicle.]
Anti-dachshund family transcription factor 1 antibody positivity HP_6000877 [The presence of autoantibodies in the serum that react against dachshund-homolog 1 (DACH1) autoantigen.]
Anti-Glutamate Receptor delta2 antibody positivity HP_6000876 [The presence of autoantibodies in the serum that react against glutamate receptor delta2.]
Anti-regulator of G protein signaling 8 antibody positivity HP_6000879 [The presence of autoantibodies in the serum that react against regulator of G-protein signaling 8 (RGS8).]
Anti-potassium channel tetramerization domain containing 16 antibody positivity HP_6000878 [The presence of autoantibodies (immunoglobulins) in the blood circulation that react against potassium channel tetramerization domain containing 16 (KCTD16).]
Abnormal B cell proliferation HP_0031380 [Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.]
Abnormal lymphocyte proliferation HP_0031378 [Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.]
Abnormal T cell proliferation HP_0031379 [Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.]
Megakaryocyte nucleus hyperlobulation HP_0031388 [The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.]
Increased micromegakaryocyte count HP_0031386 [The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.]
Increased multinucleated megakaryocyte count HP_0031387 [The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.]
Reduced T cell CD40 expression HP_0031384 [A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.]
Megakaryocyte nucleus hypolobulation HP_0031385 [The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.]
Decreased anti-CD3/28-induced T-cell proliferation HP_0031382 [Abnormal decrease of T cell proliferation in response to anti-CD3/28 stimulation. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation and strength of stimulation may vary between laboratories.]
Diminished tissue very long-chain acyl-CoA dehydrogenase activity HP_6000860 [Diminished activity of Very long-chain acyl-CoA dehydrogenase (VLCAD), an enzyme that catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. VLCAD activity can be measured with biochemical testing using cultured fibroblasts or lymphocytes.]
Parotid adenoma HP_6000862 [A benign tumor of the parotid salivary gland.]
Diminished tissue glycogen branching enzyme activity HP_6000861 [Activity of glycogen branching enzyme in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts.]
Transverse smile HP_6000864 [Inability to raise the corners of the mouth during the act of smiling due to facial muscle weakness. The act of smiling is accompanied by a horizontal movement of the mouth.]
Elevated serum-ascites albumin gradient (SAAG) HP_6000863 [An elevation of the serum ascites albumin gradient (SAAG), which is based on the difference between the albumin level of serum and of ascitic fluid, may be used to assess the extent of ascites. The SAAG is thought to reflect the colloid osmotic pressure gradient and the degree of portal hypertension. It has been shown that SAAG is a better discriminator of portal hypertension than ascites. A SAAG of 1.1 gm/dL or higher is considered as high, indicating the presence of portal hypertension, while SAAG less than 1.1 gm/dL is low, indicating the absence of portal hypertension.]