All terms in HP
Label | Id | Description |
---|---|---|
Normal pressure hydrocephalus | HP_0002343 | [A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.] |
Hydrocephalus | HP_0000238 | [Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.] |
Intellectual disability, moderate | HP_0002342 | [Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.] |
Intellectual disability | HP_0001249 | [Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.] |
Action tremor | HP_0002345 | [A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.] |
Progressive neurologic deterioration | HP_0002344 | |
Cervical cord compression | HP_0002341 | [Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.] |
Spinal cord compression | HP_0002176 | [External mechanical compression of the spinal cord.] |
Caudate atrophy | HP_0002340 | |
Atrophy/Degeneration involving the caudate nucleus | HP_0007374 | |
Ascending aortic dissection | HP_0004933 | [A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.] |
Abnormal ascending aorta morphology | HP_0031784 | [Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.] |
Aortic dissection | HP_0002647 | [Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.] |
Vascular calcification | HP_0004934 | [Abnormal calcification of the vasculature.] |
Abnormal vascular morphology | HP_0025015 | |
Cardiovascular calcification | HP_0011915 | [Abnormal calcification in the cardiovascular system.] |
Arteriosclerosis of small cerebral arteries | HP_0004931 | [Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.] |
Abnormal cerebral artery morphology | HP_0009145 | [Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.] |
Arteriosclerosis | HP_0002634 | [Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.] |
Abnormality of the pulmonary vasculature | HP_0004930 |