All terms in HP

Label Id Description
Dextrotransposition of the great arteries HP_0031348 [A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.]
Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts HP_6000830 [Concentration or activity of the alpha-ketoglutarate dehydrogenase complex as measured in cultured fibroblasts is below the limits of normal. This enzyme is a multienzyme complex consisting of 3 protein subunits, oxoglutarate dehydrogenase, also known as alpha-ketoglutarate dehydrogenase or E1k (EC 1.2.4.2.), dihydrolipoyl succinyltransferase (DLST, or E2k; 126063), and dihydrolipoyl dehydrogenase (DLD, or E3; 238331). The complex catalyzes a key reaction in the Krebs tricarboxylic acid cycle.]
obsolete Levotransposition of the great arteries HP_0031349
Hyperkalemia while symptomatic HP_6000833 [Increased concentration of potassium in the blood circulation specifically measured during a disease flareup, attack, or exacerbation.]
Rectal arteriovenous malformation HP_0031346 [An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.]
Reduced tissue phosphorylase kinase activity HP_6000832 [Concentration or activity of phosphorylase kinase below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.]
Uterine arteriovenous malformation HP_0031347 [An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.]
Positive CSF mycobacterial culture HP_6000835 [Growth of mycobacteria in a culture derived from cerebrospinal fluid (CSF).]
Elevated urinary gamma-glutamylcysteine level HP_6000834 [The amount of gamma-glutamylcysteine in the urine, normalized for urine concentration, is above the upper limit of normal.]
Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test HP_6000837 [Detection of SARS-CoV-2 coronavirus nucleic acid in the sputum or pharyngeal sample by a method such as polymerase chain reaction.]
Positive respiratory tract nucleic acid pathogen test HP_6000836 [Positive (abnormal) result of a sputum or pharyngeal sample test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.]
Horizontal position of testicle HP_6000839 [The Bell Clapper deformity is one of the causes for the testicular torsion. In this condition, testis lacks a normal attachment to tunica vaginalis and hangs freely, causing it to sit horizontally rather than vertically in the scrotum.]
Positive fecal cryptosporidium antigen test HP_6000838 [Cryptosporidium antigen present in stool. Tests include direct fluorescent-antibody (DFA), which detects intact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens.]
pregnane CHEBI_8386
Pelvic arteriovenous malformation HP_0031344 [An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.]
Colonic arteriovenous malformation HP_0031345 [An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.]
Duodenal arteriovenous malformation HP_0031342 [An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.]
rectum lamina propria UBERON_8600140 [The lamina propria that underlies the epithelial lining of the rectum.]
Jejunal arteriovenous malformation HP_0031343 [An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.]
Abnormal lysosomal morphology HP_0031340 [A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.]