HPO
Db Link Name Definition Comment Is a
HPO HP:0001604 Vocal cord paresis "Decreased strength of the vocal folds." [HPO:probinson] Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat. HP:0001605
HPO HP:0001605 Vocal cord paralysis "A loss of the ability to move the vocal folds." [HPO:probinson] Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. HP:0003470, HP:0031801
HPO HP:0001606 obsolete Vocal cord paralysis (caused by tumor impingement)
HPO HP:0001607 Subglottic stenosis HP:0025423
HPO HP:0001608 Abnormality of the voice This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. HP:0000118
HPO HP:0001609 Hoarse voice "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." [HPO:probinson] HP:0001608
HPO HP:0001611 Nasal speech "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech." [HPO:sdoelken] May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy. HP:0001608
HPO HP:0001612 Weak cry HP:0025429
HPO HP:0001613 obsolete Hoarse voice (caused by tumor impingement)
HPO HP:0001615 Hoarse cry HP:0001609
HPO HP:0001618 Dysphonia "An impairment in the ability to produce voice sounds." [HPO:probinson] HP:0001608, HP:0002167
HPO HP:0001620 High pitched voice "An abnormal increase in the pitch (frequency) of the voice." [HPO:probinson] HP:0001608
HPO HP:0001621 Weak voice "Reduced intensity (volume) of speech." [HPO:probinson] Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization. HP:0001608
HPO HP:0001622 Premature birth "The birth of a baby of less than 37 weeks of gestational age." [HPO:probinson] HP:0001197
HPO HP:0001623 Breech presentation "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [HPO:probinson] HP:0001787
HPO HP:0001626 Abnormality of the cardiovascular system "Any abnormality of the cardiovascular system." [HPO:probinson] The cardiovascular system consists of the heart, vasculature, and the lymphatic system. HP:0000118
HPO HP:0001627 Abnormal heart morphology "Any structural anomaly of the heart." [HPO:probinson] HP:0030680
HPO HP:0001629 Ventricular septal defect "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:probinson, PMID:33327983] HP:0010438
HPO HP:0001631 Atrial septal defect "Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum." [DDD:dbrown, HPO:probinson] HP:0005120, HP:0011994
HPO HP:0001633 Abnormal mitral valve morphology "Any structural anomaly of the mitral valve." [HPO:probinson] HP:0006705
HPO HP:0001634 Mitral valve prolapse "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [HPO:probinson] Mitral valve prolapse can be associated with mitral regurgitation. HP:0001633
HPO HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:probinson] HP:0011025
HPO HP:0001636 Tetralogy of Fallot "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:probinson] HP:0001710
HPO HP:0001637 Abnormal myocardium morphology "A structural anomaly of the muscle layer of the heart wall." [] HP:0001627
HPO HP:0001638 Cardiomyopathy "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [HPO:probinson, PMID:17916581] HP:0001637