All terms in HP

Label Id Description
L-2-hydroxyglutaric acidemia HP_0040147
Cortical myoclonus HP_0040148 [Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).]
Woolly scalp hair HP_0040149 [The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.]
Excessive cerumen HP_0030789 [An increased quantity of earwax.]
Cerumen abnormality HP_0030787 [Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.]
chromophore CHEBI_23240 [The part (atom or group of atoms) of a molecular entity in which the electronic transition responsible for a given spectral band is approximately localized.]
photochemical role CHEBI_52215 [A chemical role played by the molecular entity or part thereof in a photochemical process.]
Dibasicaminoaciduria HP_0003168 [An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually referred to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).]
Carnosinuria HP_0003167 [An increased concentration of carnosine in the urine.]
Impacted cerumen HP_0030788 [Blockage of the external auditory canal by a buildup of earwax.]
Mediastinal cystic lymphangioma HP_0030785 [A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.]
Photopsia HP_0030786 [Perceived flashes of light.]
Gonadotropin-releasing hormone deficiency HP_0003164 [Gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids (primarily testosterone or estradiol). GnRH is not typically assayed directly because it is released in pulses from the hypothalamus, and its concentration can fluctuate rapidly and in a complex pattern that makes single blood measurements less informative than the pituitary's response.]
Elevated urinary delta-aminolevulinic acid HP_0003163 [An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.]
obsolete Abnormal saccule morphology HP_0040110
Increased urinary taurine HP_0003166 [Increased concentration of taurine in the urine.]
obsolete Bilateral external ear deformity HP_0040111
Elevated circulating parathyroid hormone level HP_0003165 [An abnormal increased concentration of parathyroid hormone.]
Abnormal number of tubercles HP_0040112
Fasting hypoglycemia HP_0003162