| HPO |
HP:0010772 |
Anomalous pulmonary venous return |
"A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood." [HPO:probinson] |
— |
HP:0030968 |
| HPO |
HP:0012206 |
Abnormal sperm motility |
"An anomaly of the mobility of ejaculated sperm." [HPO:probinson] |
— |
HP:0000025 |
| HPO |
HP:0000238 |
Hydrocephalus |
"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, PMID:18211712, PMID:19410151] |
Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. |
HP:0002118, HP:0002921 |
| HPO |
HP:0006536 |
Airway obstruction |
"Obstruction of conducting airways of the lung." [HPO:probinson] |
— |
HP:0002795 |
| HPO |
HP:0100750 |
Atelectasis |
"Collapse of part of a lung associated with absence of inflation (air) of that part." [HPPO:probinson] |
— |
HP:0031983 |
| HPO |
HP:0031245 |
Productive cough |
"A cough that produces phlegm or mucus." [] |
— |
HP:0012735 |
| HPO |
HP:0001748 |
Polysplenia |
"Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators] |
— |
HP:0009799 |
| HPO |
HP:0005425 |
Recurrent sinopulmonary infections |
"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections." [HPO:probinson] |
— |
HP:0002205 |
| HPO |
HP:0002643 |
Neonatal respiratory distress |
"Respiratory difficulty as newborn." [HPO:probinson] |
— |
HP:0002093 |
| HPO |
HP:0025576 |
Abnormal inferior vena cava morphology |
"Any structural anomaly of the principal vein draining blood from the lower portion of the body." [MP:0006063] |
— |
HP:0005345 |
| HPO |
HP:0000510 |
Rod-cone dystrophy |
"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones." [HPO:probinson, PMID:20212494] |
Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. |
HP:0000556 |
| HPO |
HP:0001669 |
Transposition of the great arteries |
"A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." [eMedicine:900574, HPO:probinson, PMID:10798431] |
— |
HP:0011563, HP:0011603 |
| HPO |
HP:0001696 |
Situs inversus totalis |
"A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs." [DDD:dbrown, HPO:probinson] |
— |
HP:0001651, HP:0011534 |
| HPO |
HP:0000750 |
Delayed speech and language development |
"A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson] |
Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. |
HP:0002167, HP:0002463, HP:0012758 |
| HPO |
HP:0030828 |
Wheezing |
"A high-pitched whistling sound associated with labored breathing." [HPO:probinson, PMID:26229557] |
Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less |
HP:0030829 |
| HPO |
HP:0002119 |
Ventriculomegaly |
"An increase in size of the ventricular system of the brain." [HPO:probinson] |
— |
HP:0002118 |
| HPO |
HP:0002566 |
Intestinal malrotation |
"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:probinson, PMID:12438031] |
— |
HP:0002242 |
| HPO |
HP:0011109 |
Chronic sinusitis |
"A chronic form of sinusitis." [HPO:probinson] |
— |
HP:0000246 |
| HPO |
HP:0005301 |
Persistent left superior vena cava |
"A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress." [PMID:18847480] |
— |
HP:0025575 |
| HPO |
HP:0003251 |
Male infertility |
— |
— |
HP:0000789, HP:0012041 |
| HPO |
HP:0011539 |
Atrial situs ambiguous |
"Common atrium without defining morphologic features." [DDD:dbrown] |
— |
HP:0011535 |
| HPO |
HP:0002110 |
Bronchiectasis |
"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [HPO:probinson] |
— |
HP:0025426 |
| HPO |
HP:0100582 |
Nasal polyposis |
"Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken, PMID:18728843] |
Nasal polyps (NP) are benign lesions arising from the mucosa of the nasal sinuses (commonly at the outflow tract of one or more of the sinuses) or from the mucosa of the nasal cavity. The main presenting symptom of NP is nasal obstruction which is constant but can vary depending on the site and size of the polyps. Sufferers will also frequently complain of watery rhinorrhea and postnasal drip. Anosmia or hyposmia with an ensuing alteration in taste are also characteristic symptoms of NP. |
HP:0000433 |
| HPO |
HP:0008222 |
Female infertility |
— |
— |
HP:0000789, HP:0000868 |
| HPO |
HP:0000403 |
Recurrent otitis media |
"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media." [HPO:probinson] |
— |
HP:0000388, HP:0002719 |