| HPO |
HP:0012499 |
Descending aortic dissection |
"A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] |
According to the Stanford classification, type B aortic dissection begins beyond brachiocephalic vessels (begins distal to the left subclavian artery). |
HP:0002647 |
| HPO |
HP:0012500 |
Verrucous papule |
"A wartlike (with multiple small elevated projections) papule." [HPO:probinson] |
— |
HP:0200034 |
| HPO |
HP:0012501 |
Abnormality of the brainstem white matter |
"An anomaly of the white matter of brainstem." [HPO:probinson] |
— |
HP:0002363 |
| HPO |
HP:0012502 |
Abnormality of the internal capsule |
"An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus." [HPO:probinson] |
— |
HP:0002500 |
| HPO |
HP:0012503 |
Abnormality of the pituitary gland |
"An anomaly of the pituitary gland." [HPO:probinson] |
— |
HP:0000864, HP:0012443 |
| HPO |
HP:0012504 |
Abnormal size of pituitary gland |
"A deviation from the normal size of the pituitary gland." [HPO:probinson] |
— |
HP:0012503 |
| HPO |
HP:0012505 |
Enlarged pituitary gland |
"An abnormally increased size of the pituitary gland." [ORCID:0000-0001-5208-3432] |
— |
HP:0012504 |
| HPO |
HP:0012506 |
Small pituitary gland |
"An abnormally decreased size of the pituitary gland." [ORCID:0000-0001-5208-3432] |
— |
HP:0012504 |
| HPO |
HP:0012507 |
Weakness of orbicularis oculi muscle |
"Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid." [HPO:probinson] |
— |
HP:0001324, HP:0030319 |
| HPO |
HP:0012508 |
Metamorphopsia |
"A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank." [HPO:probinson] |
— |
HP:0000504 |
| HPO |
HP:0012509 |
Reduced thyroxin-binding globulin |
"An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream." [HPO:probinson] |
Thyroxin-binding globulin is known as serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), Entrez Gene ID 6906. Individuals with TBG deficiency are euthyroid. |
HP:0010876 |
| HPO |
HP:0012510 |
Extra-axial cerebrospinal fluid accumulation |
"An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space." [HPO:probinson, PMID:22327705, PMID:23838695] |
— |
HP:0002921 |
| HPO |
HP:0012511 |
Temporal optic disc pallor |
"A pale yellow discoloration of the temporal (lateral) portion of the optic disc." [HPO:probinson, PMID:19668477] |
Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. |
HP:0000543 |
| HPO |
HP:0012512 |
Diffuse optic disc pallor |
"A pale yellow discoloration of the entire optic disc." [HPO:probinson, PMID:19668477] |
Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. |
HP:0000543 |
| HPO |
HP:0012513 |
Upper limb pain |
"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm." [ORCID:0000-0001-5208-3432] |
— |
HP:0009763 |
| HPO |
HP:0012514 |
Lower limb pain |
"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg." [ORCID:0000-0001-5208-3432] |
— |
HP:0009763 |
| HPO |
HP:0012515 |
Hip flexor weakness |
"Reduced ability to flex the femur, that is, to pull the knee upward." [ORCID:0000-0001-5208-3432] |
Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh. |
HP:0003749 |
| HPO |
HP:0012516 |
Tetralogy of Fallot with pulmonary atresia |
"An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries." [ORCID:0000-0001-5208-3432, PMID:22368654] |
Tetralogy of Fallot with Pulmonary Atresia (TOF/PA) is a complex lesion with many different anatomic variants. The primary source of variability in this lesion is in the anatomy of the pulmonary arteries, with the spectrum ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries and major aorto-pulmonary collaterals (MAPCA's) providing all the pulmonary blood flow. The majority of cases fall somewhere in between these two ends of the spectrum, with the total pulmonary blood flow provided by a combination of diminutive native pulmonary arteries and multiple MAPCA. |
HP:0001636 |
| HPO |
HP:0012517 |
Reduced catalase level |
"An abnormally decreased amount of catalase level." [HPO:probinson] |
Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen. |
HP:0012379 |
| HPO |
HP:0012518 |
Abnormal circle of Willis morphology |
"An anomaly of the circle of Willis, also known as the cerebral arterial circle." [HPO:probinson] |
The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries. |
HP:0009145 |
| HPO |
HP:0012519 |
Hypoplastic posterior communicating artery |
"Underdeveloped posterior communicating artery." [ORCID:0000-0001-5208-3432] |
The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis. |
HP:0031772 |
| HPO |
HP:0012520 |
Dilation of Virchow-Robin spaces |
"Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery." [ORCID:0000-0001-5208-3432, PMID:17620468, PMID:23867200, PMID:25564639] |
Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. |
HP:0100659 |
| HPO |
HP:0012521 |
Optic nerve aplasia |
"Congenital absence of the optic nerve." [HPO:probinson] |
— |
HP:0008058 |
| HPO |
HP:0012522 |
Spider hemangioma |
"A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released." [HPO:probinson, PMID:22356347] |
Spider hemangiomas are up to a few centimeters in diameter. |
HP:0100585 |
| HPO |
HP:0012523 |
Oral aversion |
"Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing)." [ORCID:0000-0001-5208-3432] |
— |
HP:0100738 |