HPO
Db Link Name Definition Comment Is a
HPO HP:0011718 Abnormality of the pulmonary veins "An abnormality of the pulmonary veins." [HPO:probinson] The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium. HP:0004930
HPO HP:0011719 Supracardiac total anomalous pulmonary venous connection "Type 1 total anomalous pulmonary venous connection." [DDD:dbrown] HP:0005160
HPO HP:0011720 Cardiac total anomalous pulmonary venous connection "Type 2 total anomalous pulmonary venous connection." [DDD:dbrown] HP:0005160
HPO HP:0011721 Infracardiac total anomalous pulmonary venous connection "Type 3 total anomalous pulmonary venous connection." [DDD:dbrown] HP:0005160
HPO HP:0011722 Mixed total anomalous pulmonary venous connection "Type 4 total anomalous pulmonary venous connection." [DDD:dbrown] HP:0005160
HPO HP:0011723 Congenital malformation of the right heart "Defect or defects of the morphogenesis of the right heart identifiable at birth." [] HP:0001627
HPO HP:0011724 Uhl's anomaly "Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium." [PMID:10859296, PMID:16322929] HP:0011723
HPO HP:0011725 Chaotic multifocal atrial tachycardia HP:0001692
HPO HP:0011726 Persistent fetal circulation "Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course." [DDD:dbrown] HP:0010948
HPO HP:0011727 Peroneal muscle weakness "Weakness of the peroneal muscles." [HPO:probinson] THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side. HP:0009053
HPO HP:0011728 Elbow clonus "Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint." [HPO:probinson] HP:0002169
HPO HP:0011729 Abnormality of joint mobility "An abnormality in the range and ease of motion of joints across their normal range." [HPO:probinson] HP:0011843
HPO HP:0011730 Abnormal central sensory function "An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord." [HPO:probinson] HP:0012638
HPO HP:0011731 Abnormality of circulating cortisol level "An abnormality of the concentration of cortisol in the blood." [HPO:probinson] HP:0012111
HPO HP:0011732 Abnormality of adrenal morphology "Any structural anomaly of the adrenal glands." [HPO:probinson] HP:0000834, HP:0031071
HPO HP:0011733 Abnormality of adrenal physiology "A functional abnormality of the adrenal glands." [HPO:probinson] HP:0000834
HPO HP:0011734 Central adrenal insufficiency "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected." [DDD:spark] HP:0000846
HPO HP:0011735 Adrenocorticotropin deficient adrenal insufficiency "Adrenal insufficiency secondary to a defect in ACTH production." [DDD:spark] HP:0011734
HPO HP:0011736 Primary hyperaldosteronism "A form of hyperaldosteronism caused by a defect within the adrenal gland." [DDD:spark] HP:0000859
HPO HP:0011737 Corticotropin-releasing hormone deficient adrenal insufficiency "Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production." [DDD:spark] HP:0011734
HPO HP:0011738 Corticotropin-releasing hormone receptor defect "Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor." [DDD:spark] HP:0011734
HPO HP:0011739 Dexamethasone-suppressible primary hyperaldosteronism "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone." [DDD:spark, HPO:probinson] HP:0011736
HPO HP:0011740 Glucocortocoid-insensitive primary hyperaldosteronism "A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids." [DDD:spark, HPO:probinson] HP:0011736
HPO HP:0011741 Secondary hyperaldosteronism "A form of hyperaldosteronism caused by abnormally increased renin levels." [DDD:spark] HP:0000859
HPO HP:0011742 Ectopic adrenal gland "Abnormal anatomical location of the adrenal gland." [DDD:spark] HP:0011732