| HPO |
HP:0012474 |
Carotid artery occlusion |
"Complete obstruction of a carotid artery." [ORCID:0000-0001-5208-3432] |
Carotid artery occlusion is usually caused by caused by atherosclerosis. |
HP:0005344 |
| HPO |
HP:0012475 |
Decreased circulating level of specific antibody |
"The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism." [HPO:probinson, PMID:17100769] |
— |
HP:0004313, HP:0031404 |
| HPO |
HP:0012476 |
Decreased specific pneumococcal antibody level |
"The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci." [HPO:probinson] |
— |
HP:0012475 |
| HPO |
HP:0012477 |
Vocal tremor |
"A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability." [HPO:probinson, PMID:22505778] |
— |
HP:0002345 |
| HPO |
HP:0012478 |
Temporomandibular joint ankylosis |
"Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening." [ORCID:0000-0001-5208-3432] |
— |
HP:0010754 |
| HPO |
HP:0012479 |
Temporomandibular joint crepitus |
"Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound." [HPO:probinson] |
— |
HP:0010754 |
| HPO |
HP:0012480 |
Abnormal cerebral vein morphology |
"An anomaly of cerebral veins." [HPO:probinson] |
— |
HP:0100659 |
| HPO |
HP:0012481 |
Cerebral venous angioma |
"A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system." [HPO:probinson, PMID:8770251] |
DVA is characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. |
HP:0012480 |
| HPO |
HP:0012482 |
Frontal venous angioma |
"A venous angioma of the frontal lobe of the brain." [HPO:probinson] |
— |
HP:0012481 |
| HPO |
HP:0012483 |
Abnormal alpha granules |
"Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury." [DDD:wouwehand, PMID:8467233] |
This feature can be observed by electron microscopy. Alpha granules normally contain a number of proteins including von Willebrand factor, and fibrinogen. |
HP:0011883 |
| HPO |
HP:0012484 |
Abnormal dense granules |
"Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin." [DDD:wouwehand] |
This feature can be observed by electron microscopy. |
HP:0011883 |
| HPO |
HP:0012485 |
Abnormal surface-connected open canalicular system |
"An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction." [HPO:probinson, PMID:1760557] |
— |
HP:0011875 |
| HPO |
HP:0012486 |
Myelitis |
"Inflammation of the spinal cord." [HPO:probinson] |
— |
HP:0002143, HP:0033429 |
| HPO |
HP:0012487 |
Cerebellopontine angle arachnoid cyst |
"An arachnoid cyst located at the margin of the cerebellum and pons." [ORCID:0000-0001-5208-3432] |
The cerebellopontine angle is in the posterior fossa. |
HP:0007291, HP:0100702 |
| HPO |
HP:0012488 |
Intraventricular arachnoid cyst |
"An arachnoid cyst located within the ventricular system." [HPO:probinson, PMID:8951893] |
Arachnoid cysts very rarely occur within the ventricular system, where no arachnoid tissue exists. |
HP:0010576, HP:0100702 |
| HPO |
HP:0012489 |
Suprasellar arachnoid cyst |
"An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards." [HPO:probinson, PMID:21586175] |
As the cyst increases in size it fills and occludes the third ventricle, and distorts and blocks the aqueduct, which finally results in hydrocephalus. |
HP:0010576, HP:0100702 |
| HPO |
HP:0012490 |
Panniculitis |
"Inflammation of adipose tissue." [HPO:probinson] |
Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules. |
HP:0009124, HP:0012649 |
| HPO |
HP:0012491 |
Abnormal dense tubular system |
"An anomaly of the intracellular membrane complexes known as the dense tubular system." [DDD:wouwehand, PMID:1322202] |
The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form. |
HP:0011875 |
| HPO |
HP:0012492 |
Cerebral artery stenosis |
"Narrowing or constriction of the inner surface (lumen) of a cerebral artery." [ORCID:0000-0001-5208-3432] |
— |
HP:0009145 |
| HPO |
HP:0012493 |
Middle cerebral artery stenosis |
"Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery." [HPO:probinson] |
— |
HP:0012492 |
| HPO |
HP:0012494 |
Anterior cerebral artery stenosis |
"Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery." [HPO:probinson] |
— |
HP:0012492 |
| HPO |
HP:0012495 |
Posterior cerebral artery stenosis |
"Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery." [HPO:probinson] |
— |
HP:0012492 |
| HPO |
HP:0012496 |
Reduced maximal inspiratory pressure |
"A decrease in the maximum amount of negative pressure a person can generate during an inhalation." [ORCID:0000-0001-5208-3432] |
— |
HP:0004347 |
| HPO |
HP:0012497 |
Reduced maximal expiratory pressure |
"A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration." [ORCID:0000-0001-5208-3432] |
— |
HP:0004347 |
| HPO |
HP:0012498 |
Nuchal cord |
"A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times." [HPO:probinson] |
— |
HP:0001787 |