| HPO |
HP:0011921 |
Exudative pleural effusion |
"A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [DDD:tkuijpers, HPO:probinson, PMID:16623208] |
Transudates result from pneumonia, malignancy, thromboembolism, and other causes. |
HP:0002202 |
| HPO |
HP:0011922 |
Abnormal activity of mitochondrial respiratory chain |
"An increased or decreased activity of the mitochondrial respiratory chain." [HPO:probinson] |
— |
HP:0003287 |
| HPO |
HP:0011923 |
Decreased activity of mitochondrial complex I |
"A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria." [HPO:probinson] |
— |
HP:0008972 |
| HPO |
HP:0011924 |
Decreased activity of mitochondrial complex III |
"A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria." [HPO:probinson] |
— |
HP:0008972 |
| HPO |
HP:0011925 |
Decreased activity of mitochondrial ATP synthase complex |
"A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain." [HPO:probinson] |
— |
HP:0008972 |
| HPO |
HP:0011926 |
Proximal placement of hallux |
"Proximal mislocalization of the big toe from its normal position." [HPO:probinson] |
Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. |
HP:0010051 |
| HPO |
HP:0011927 |
Short digit |
"One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened." [HPO:probinson] |
Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. |
HP:0011297 |
| HPO |
HP:0011928 |
Short proximal phalanx of toe |
"Developmental hypoplasia (shortening) of proximal phalanx of toe." [HPO:probinson] |
— |
HP:0001831, HP:0010184 |
| HPO |
HP:0011929 |
Hypersegmentation of proximal phalanx of third finger |
"Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger." [HPO:probinson] |
This anomaly is characteristic for brachydactyly type C. |
HP:0009358 |
| HPO |
HP:0011930 |
Hyperextensible skin of chest |
— |
— |
HP:0007458 |
| HPO |
HP:0011931 |
Abnormal cerebellar peduncle morphology |
"An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum." [HPO:probinson] |
— |
HP:0001317, HP:0012501 |
| HPO |
HP:0011932 |
Abnormal superior cerebellar peduncle morphology |
"An anomaly of the superior cerebellar peduncle." [HPO:probinson] |
— |
HP:0007361, HP:0011931 |
| HPO |
HP:0011933 |
Elongated superior cerebellar peduncle |
"Increased length of the superior cerebellar peduncle." [HPO:probinson] |
— |
HP:0011932 |
| HPO |
HP:0011934 |
Dilatation of mesenteric artery |
"Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery ." [HPO:probinson] |
Aneurysm is considered a severe form of dilatation. |
HP:0002636 |
| HPO |
HP:0011935 |
Decreased urinary urate |
"Decreased concentration of urate in the urine." [HPO:probinson] |
Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. |
HP:0012610 |
| HPO |
HP:0011936 |
Decreased plasma total carnitine |
"A decreased concentration of total carnitine in the blood." [HPO:probinson] |
— |
HP:0003234 |
| HPO |
HP:0011937 |
Hypoplastic fifth toenail |
"Underdeveloped nails of the fifth toes." [HPO:probinson] |
— |
HP:0001800 |
| HPO |
HP:0011939 |
3-4 finger cutaneous syndactyly |
"A soft tissue continuity in the A/P axis between fingers 3 and 4." [HPO:probinson] |
— |
HP:0010554 |
| HPO |
HP:0011940 |
Anterior wedging of T12 |
"An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] |
— |
HP:0008422 |
| HPO |
HP:0011941 |
Anterior wedging of L2 |
"An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] |
— |
HP:0008422 |
| HPO |
HP:0011942 |
Increased urinary sulfite |
"Increased concentration of SO3(2-), i.e., sulfite, in the urine." [HPO:probinson] |
— |
HP:0033354 |
| HPO |
HP:0011943 |
Increased urinary thiosulfate |
"Increased concentration of thiosulfate(2-) in the urine." [HPO:probinson] |
— |
HP:0033354 |
| HPO |
HP:0011944 |
Small vessel vasculitis |
"A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries." [HPO:probinson, PMID:9366584] |
— |
HP:0002633 |
| HPO |
HP:0011945 |
Bronchiolitis obliterans organizing pneumonia |
"Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss." [DDD:tkuijpers, HPO:probinson, PMID:20858818] |
— |
HP:0006530 |
| HPO |
HP:0011946 |
Bronchiolitis obliterans |
"Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways." [HPO:probinson] |
Note that Bronchiolitis obliterans is not to be confused with the similarly named feature Bronchiolitis obliterans organizing pneumonia. |
HP:0006530 |