All terms in HP

Label Id Description
Increased circulating alpha-mannosidase activity HP_4000191 [Concentration or activity of alpha mannosidase above the upper limit of normal in the blood circulation.]
Thickened aortic valve cusp HP_0031568 [An abnormally increased thickness of a leaflet of the aortic valve.]
Absent aortic valve cusps HP_0031569 [A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.]
Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts HP_4000198 [Concentration or activity of N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) as measured in cultured fibroblasts is below the limits of normal. N-acetylglucosamine-6-sulfatase hydrolyzes heparan sulfate and keratan sulfate.]
Reduced N-acetylgalactosamine-6-sulfatase in cultured fibroblasts HP_4000197 [Concentration or activity of N-acetylgalactosamine-6-sulfatase as measured in cultured fibroblasts is below the limits of normal.]
Reduced erythrocyte porphobilinogen deaminase activity HP_4000199 [Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal.]
Pseudohyperkalemia HP_4000194 [Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample.]
Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity HP_4000193 [Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in leukocytes is below the limits of normal.]
Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts HP_4000196 [Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in cultured fibroblasts is below the limits of normal.]
Bronchial isomerism HP_0031564 [An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).]
Isomerism HP_0031853 [Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.]
Abdominal situs ambiguus HP_0031565 [An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.]
Balanced double aortic arch HP_0031562 [A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.]
Coronary arteriovenous fistula HP_0031563 [An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.]
Coronary cameral fistula HP_0031560 [An abnormal communication between coronary artery and a cardiac chamber.]
Coronary cameral fistula to right ventricle HP_0031561 [An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.]
Verruciform xanthoma HP_0031517 [A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.]
Absent posterior alpha rhythm HP_0031518 [Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.]
Hepatic calcification HP_0006559 [The presence of abnormal calcium deposition in the liver.]
Metaphase I oocyte maturation arrest HP_0031516 [Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.]