| HPO |
HP:0020173 |
Reduced drug efficacy |
"Decreased response to a drug intervention in comparison to the expected response." [ORCID:0000-0002-7440-8864, PMID:26178435] |
— |
HP:0020169 |
| HPO |
HP:0020174 |
Refractory drug response |
"Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course." [ORCID:0000-0002-7440-8864, PMID:29188449] |
— |
HP:0020169 |
| HPO |
HP:0020175 |
Reduced cholinesterase level |
"A decreased amount of cholinesterase in the blood circulation." [PMID:29853783, UCDenver:tjcallahan] |
Serum cholinesterase (butyrylcholinesterase (BChE)) is an enzyme that hydrolyzes acetylcholine. BChE is synthetized in the liver and has conventionally been used as a liver function test. |
HP:0012379 |
| HPO |
HP:0020176 |
Cholesterol crystalluria |
— |
Cholesterol crystals are transparent plates with well-defined edges and corners, which polarize light inconstantly. They are not found in normal subjects, and characteristically occur in patients with lipiduria secondary to nephrotic syndrome. |
HP:0020074 |
| HPO |
HP:0020177 |
Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells |
"An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative." [] |
— |
HP:0410380 |
| HPO |
HP:0020178 |
Abnormal dendritic cell count |
"A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative)." [CL:0000451, PMID:15795906] |
Dendritic cells (DC), the professional antigen-pre-senting cells that prime specific immune responses,comprise a very small percentage of circulating whiteblood cells. |
HP:0011893 |
| HPO |
HP:0020179 |
Abnormal haptoglobin level |
"A deviation from the normal concentration of haptoglobin in the blood circulation." [PMID:24809098] |
Haptoglobin is primarily produced in the liver and is functionally important for binding free hemoglobin fromlysed red cells in vivo, preventing its toxic effects. |
HP:0010876 |
| HPO |
HP:0020180 |
Elevated haptoglobin level |
"An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation." [PMID:24809098] |
— |
HP:0020179 |
| HPO |
HP:0020181 |
Reduced haptoglobin level |
"An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state." [PMID:24809098] |
— |
HP:0020179 |
| HPO |
HP:0020182 |
Abnormal A-type atrial natriuretic peptide level |
"A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure." [PMID:28552863, RGD:SJWang] |
— |
HP:0010876 |
| HPO |
HP:0020183 |
Increased circulating A-type natriuretic peptide level |
"A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure." [PMID:28552863, RGD:SJWang] |
— |
HP:0020182 |
| HPO |
HP:0020184 |
Decreased circulating A-type natriuretic peptide level |
"A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure." [PMID:28552863, RGD:SJWang] |
— |
HP:0020182 |
| HPO |
HP:0020185 |
Superior cerebellar dysplasia |
"Abnormal morphological development of the superior part of the cerebellum." [] |
— |
HP:0007033 |
| HPO |
HP:0020186 |
Multilobulated spleen |
"The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen." [PMID:23710135] |
Sometimes a splenic lobule may extend medially anterior to the upper pole of the left kidney and less often posterior to the upper pole of the left kidney. Although these lobules are not of any clinical importance, close relation of the splenic lobule to the upper pole of the left kidney may cause misinterpretations as a mass originating from the kidney by the radiologists. |
HP:0025408 |
| HPO |
HP:0020187 |
Thick pachygyria |
"Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age." [PMID:28440899] |
— |
HP:0001302 |
| HPO |
HP:0020188 |
Anterior predominant pachygyria with 5-10 mm cortical thickness |
"Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria." [COST:neuromig, PMID:28440899] |
— |
HP:0020192 |
| HPO |
HP:0020189 |
Posterior predominant thick cortex pachygyria |
"Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria." [COST:neuromig, PMID:28440899] |
— |
HP:0020187 |
| HPO |
HP:0020190 |
Perisylvian predominant thick cortex pachygyria |
"Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria." [COST:neuromig, PMID:28440899] |
— |
HP:0020187 |
| HPO |
HP:0020191 |
Anterior predominant thick cortex pachygyria |
"Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes." [COST:neuromig] |
— |
HP:0020187 |
| HPO |
HP:0020192 |
Pachygyria with 5-10 mm cortical thickness |
"Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age." [COST:neuromig, PMID:28440899] |
— |
HP:0001302 |
| HPO |
HP:0020193 |
Prolonged reptilase time |
"An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds." [PMID:23546720] |
Reptilase time may be increased with a deficiency of fibronogen. Unlike the thrombin time, this assay is not affected by the presence of heparin, hirudin, or direct thrombin inhibitors in a blood sample. |
HP:0001928 |
| HPO |
HP:0020194 |
IgA heavy chain paraproteinemia |
"An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [PMID:25125965] |
— |
HP:0031049 |
| HPO |
HP:0020195 |
IgG heavy chain paraproteinemia |
"An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [PMID:22301495] |
— |
HP:0031049 |
| HPO |
HP:0020196 |
IgM heavy chain paraproteinemia |
"An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells." [PMID:17403946] |
— |
HP:0031049 |
| HPO |
HP:0020197 |
Increased circulating arachidonic acid concentration |
"An increased circulation of arachidonic acid in the blood circulation." [PMID:30034875, UCDenver:tjcallahan] |
— |
HP:0010964 |