| HPO |
HP:0011947 |
Respiratory tract infection |
"An infection of the upper or lower respiratory tract." [HPO:probinson] |
— |
HP:0002088 |
| HPO |
HP:0011948 |
Recurrent acute respiratory tract infection |
"A history of repeated acute infections of the upper or lower respiratory tract." [DDD:tkuijpers] |
— |
HP:0002205 |
| HPO |
HP:0011949 |
Acute infectious pneumonia |
"Acute inflammation of the lung due to an infection." [DDD:tkuijpers] |
— |
HP:0002090 |
| HPO |
HP:0011950 |
Bronchiolitis |
"Inflammation of the bronchioles." [DDD:tkuijpers] |
— |
HP:0011948 |
| HPO |
HP:0011951 |
Aspiration pneumonia |
"Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson] |
— |
HP:0002090 |
| HPO |
HP:0011952 |
Acute aspiration pneumonia |
"An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson] |
— |
HP:0011951 |
| HPO |
HP:0011953 |
Pulmonary lymphoma |
"Lung parenchymal involvement with lymphoma." [DDD:tkuijpers] |
— |
HP:0002665, HP:0100526 |
| HPO |
HP:0011954 |
Nodular regenerative hyperplasia of liver |
"Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis." [PMID:21472097] |
— |
HP:0410042 |
| HPO |
HP:0011955 |
Hepatic granulomatosis |
"The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes." [HPO:probinson] |
— |
HP:0002955, HP:0410042 |
| HPO |
HP:0011956 |
Intestinal lymphoid nodular hyperplasia |
"A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine." [HPO:probinson, PMID:21481240] |
— |
HP:0002242 |
| HPO |
HP:0011957 |
Abnormal pectoral muscle morphology |
"An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major." [HPO:probinson] |
— |
HP:0009131 |
| HPO |
HP:0011958 |
Retinal perforation |
"A small hole through the whole thickness of the retina." [HPO:probinson] |
Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes. |
HP:0000479 |
| HPO |
HP:0011959 |
Unilateral hypoplasia of pectoralis major muscle |
"Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest." [HPO:probinson] |
— |
HP:0011957 |
| HPO |
HP:0011960 |
Substantia nigra gliosis |
"Focal proliferation of glial cells in the substantia nigra." [HPO:probinson] |
— |
HP:0002171, HP:0045007 |
| HPO |
HP:0011961 |
Non-obstructive azoospermia |
"Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, PMID:20514278] |
— |
HP:0000027 |
| HPO |
HP:0011962 |
Obstructive azoospermia |
"Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, PMID:20514278] |
— |
HP:0000027 |
| HPO |
HP:0011963 |
Pretesticular azoospermia |
"Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels." [HPO:probinson, PMID:20514278] |
— |
HP:0000027 |
| HPO |
HP:0011964 |
Intermittent painful muscle spasms |
"History of repeated intermittent involuntary muscle contractions that were painful." [HPO:probinson] |
— |
HP:0003394 |
| HPO |
HP:0011965 |
Abnormal circulating citrulline concentration |
"Any deviation from the normal concentration of citrulline in the blood circulation." [HPO:probinson] |
Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle. |
HP:0033109 |
| HPO |
HP:0011966 |
Elevated plasma citrulline |
"An increased concentration of citrulline in the blood." [HPO:probinson] |
— |
HP:0011965 |
| HPO |
HP:0011967 |
Decreased circulating copper concentration |
"A reduced concentration of copper in the blood." [HPO:probinson] |
— |
HP:0010836 |
| HPO |
HP:0011968 |
Feeding difficulties |
"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
— |
HP:0011458 |
| HPO |
HP:0011969 |
Elevated circulating luteinizing hormone level |
"An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] |
— |
HP:0000837, HP:0030345 |
| HPO |
HP:0011970 |
Cerebral amyloid angiopathy |
"Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [HPO:probinson, PMID:21519520] |
Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression. |
HP:0011034 |
| HPO |
HP:0011971 |
Dermatographic urticaria |
"An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson] |
— |
HP:0410134 |