All terms in HP

Label Id Description
Hypoplastic right atrium HP_0031294 [Underdeveloped, small right heart atrium.]
Left atrial enlargement HP_0031295 [Increase in size of the left atrium.]
creatine CHEBI_16919 [A glycine derivative having methyl and amidino groups attached to the nitrogen.]
Diminished sulfotransferase activity in cultured fibroblasts HP_6000970 [Rate of proteoglycan sulfation (sulfotransferase activity) is below the lower limit of normal in cultured fibroblasts.]
Abnormal tissue alpha-N-acetylglucosaminidase activity HP_6000972 [Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) outside of the limits of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.]
Elevated tissue alpha-N-acetylglucosaminidase activity HP_6000971 [Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) above the upper limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.]
Elevated circulating glyoxylic acid concentration HP_6000974 [The concentration of glyoxylic acid in the blood circulation is above the upper limit of normal.]
Elevated circulating trihydroxycholestanoic acid concentration HP_6000973 [The concentration of trihydroxycholestanoic acid in the blood circulation is above the upper limit of normal.]
Intrahepatic inclusion bodies HP_6000976 [Nuclear or cytoplasmic aggregates of stainable substances within hepatocytes.]
Elevated CSF sepiapterin concentration HP_6000975 [Concentration of sepiapterin in the cerebrospinal fluid (CSF) above the upper limit of normal.]
Nonrimmed muscle vacuoles HP_6000978 [Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, non-rimmed vacuoles lack the prominent dark border (rim) seen in rimmed vacuoles.]
Muscle vacuoles HP_6000977 [Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.]
Reduced hepatic glycogen phosphorylase activity HP_6000979 [Activity or concentration of glycogen phosphorylase L in the liver below the lower limit of normal.]
Sialadenitis HP_0031281 [Inflammation of a salivary gland.]
Malalignment of the great toenail HP_0031282 [A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.]
Increased LH response to gonadotropin-releasing hormone stimulation test HP_0031280 [An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.]
White papule HP_0031289 [A papule with white color.]
Seborrheic keratosis HP_0031287 [A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.]
Cobblestone-like hyperkeratosis HP_0031288 [The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.]
Perifollicular erythema HP_0031286 [Redness surrounding the hair follicles.]