All terms in HP

Label Id Description
Weak voice HP_0001621 [Reduced intensity (volume) of speech.]
appendicular skeletal system UBERON_0011249 [Subdivision of the skeletal system which consists of the appendicular skeleton plus associated joints.]
Ventricular septal defect HP_0001629 [A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.]
Abnormal atrial septum morphology HP_0011994 [An abnormality of the interatrial septum.]
Abnormal mitral valve morphology HP_0001633 [Any structural anomaly of the mitral valve.]
Mitral valve prolapse HP_0001634 [One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.]
ethmoid region UBERON_0011241 [The most anterior region of the braincase. Provides structural support for peripheral olfactory organ.]
sulfite oxidase activity GO_0008482 [Catalysis of the reaction: H2O + O2 + sulfite = H2O2 + H+ + sulfate.]
branch of internal carotid artery UBERON_0035237
transaminase activity GO_0008483 [Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid.]
Patent ductus arteriosus HP_0001643 [In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.]
Dilated cardiomyopathy HP_0001644 [Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.]
Sudden cardiac death HP_0001645 [The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).]
Epicanthus superciliaris HP_0025611 [A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).]
Cardiomegaly HP_0001640 [Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.]
Corneal astigmatism HP_0025612 [A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.]
embryonic skin basal layer UBERON_0011272
dorsal trunk UBERON_0011270 [The part of the trunk that is in the dorsum[cjm].]
nail of manual digit 3 UBERON_0011275 [A nail that is part of a manual digit 3.]
Abnormal plasma cell count HP_0025617 [An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.]