| HPO |
HP:0011972 |
Hypoglycorrhachia |
"Abnormally low glucose concentration in the cerebrospinal fluid." [HPO:probinson] |
— |
HP:0031884 |
| HPO |
HP:0011973 |
Paroxysmal lethargy |
"Repeated episodes of sudden-onset and transient lethargy." [HPO:probinson] |
— |
HP:0001254 |
| HPO |
HP:0011974 |
Myelofibrosis |
"Replacement of bone marrow by fibrous tissue." [HPO:probinson] |
— |
HP:0012145 |
| HPO |
HP:0011975 |
Aminoglycoside-induced hearing loss |
"Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics." [HPO:probinson, PMID:2669624] |
The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth. |
HP:0000365 |
| HPO |
HP:0011976 |
Elevated urinary catecholamines |
"An increased concentration of catecholamine in the urine." [HPO:probinson] |
— |
HP:0011281 |
| HPO |
HP:0011977 |
Elevated urinary homovanillic acid |
"An increased concentration of homovanillic acid in the urine." [HPO:probinson, PMID:27830764] |
Homovanillic acid is the main metabolite produced from dopamine degradation by the action of monoamine oxidase. Increased levels of catecholamines or catecholamine metabolites, including dopamine, homovanillic acid (HVA) and/or vanillylmandelic acid (VMA), can be detected in the urine of 90% of all patients with neuroblastoma. |
HP:0040156 |
| HPO |
HP:0011978 |
Elevated urinary vanillylmandelic acid |
"An increased concentration of vanillylmandelic acid in the urine." [HPO:probinson] |
— |
HP:0040156 |
| HPO |
HP:0011979 |
Elevated urinary dopamine |
"An increased concentration of dopamine in the urine." [HPO:probinson] |
— |
HP:0011976 |
| HPO |
HP:0011980 |
Cholesterol gallstones |
"Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color." [HPO:probinson, PMID:12950109, PMID:16844493] |
— |
HP:0001081 |
| HPO |
HP:0011981 |
Pigment gallstones |
"Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration." [HPO:probinson, PMID:12950109] |
— |
HP:0001081 |
| HPO |
HP:0011982 |
Black pigment gallstones |
"A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates." [HPO:probinson, PMID:12950109] |
— |
HP:0011981 |
| HPO |
HP:0011983 |
Brown pigment gallstones |
"A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones." [HPO:probinson, PMID:12950109] |
— |
HP:0011981 |
| HPO |
HP:0011984 |
Atretic gallbladder |
"Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia." [HPO:probinson] |
— |
HP:0011466 |
| HPO |
HP:0011985 |
Acholic stools |
"Clay colored stools lacking bile pigment." [HPO:probinson] |
— |
HP:0001396 |
| HPO |
HP:0011986 |
Ectopic ossification |
"Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist." [HPO:probinson] |
— |
HP:0011849 |
| HPO |
HP:0011987 |
Ectopic ossification in muscle tissue |
"Formation of abnormal bony tissue within muscle tissue." [HPO:probinson] |
— |
HP:0011986 |
| HPO |
HP:0011988 |
Ectopic ossification in tendon tissue |
"Formation of abnormal bony tissue within tendon tissue." [HPO:probinson] |
— |
HP:0011986 |
| HPO |
HP:0011989 |
Ectopic ossification in ligament tissue |
"Formation of abnormal bony tissue within ligament tissue." [HPO:probinson] |
— |
HP:0011986 |
| HPO |
HP:0011990 |
Abnormality of neutrophil physiology |
"A functional abnormality of neutrophils." [HPO:probinson] |
— |
HP:0001874 |
| HPO |
HP:0011991 |
Abnormal neutrophil count |
"A deviation from the normal range of neutrophil cell counts in the circulation." [HPO:probinson] |
— |
HP:0001874, HP:0032309 |
| HPO |
HP:0011992 |
Abnormality of neutrophil morphology |
"An abnormal form or size of neutrophils." [HPO:probinson] |
— |
HP:0001874 |
| HPO |
HP:0011993 |
Impaired neutrophil bactericidal activity |
"A reduction in the ability of neutrophils to kill bacteria." [HPO:probinson] |
— |
HP:0011990 |
| HPO |
HP:0011994 |
Abnormal atrial septum morphology |
"An abnormality of the interatrial septum." [HPO:probinson] |
— |
HP:0001671 |
| HPO |
HP:0011995 |
Atrial septal dilatation |
"A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography." [HPO:probinson, PMID:7758185] |
Atrial septal aneurysm formation may be secondary to raised interatrial pressure gradients, producing a bulging septal shift toward the low-pressure side. However, it has been also found in patients with normal atrial pressures, suggesting a primary (congenital) malformation. |
HP:0011994 |
| HPO |
HP:0011996 |
Elevated coagulation factor V activity |
"Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex." [HPO:probinson] |
— |
HP:0031899 |