| HPO |
HP:0012674 |
Aplasia of the lower vagina |
"A failure to develop of the lower part of the vagina." [HPO:probinson] |
— |
HP:0003250 |
| HPO |
HP:0012675 |
Iron accumulation in brain |
"An abnormal build up of iron (Fe) in brain tissue." [HPO:probinson] |
— |
HP:0012443 |
| HPO |
HP:0012676 |
Copper accumulation in brain |
"An anomalous build up of copper (Cu) in the brain." [HPO:probinson] |
— |
HP:0012443, HP:0032243 |
| HPO |
HP:0012677 |
Iron accumulation in globus pallidus |
"An abnormal build up of iron (Fe) in the globus pallidus." [HPO:probinson] |
— |
HP:0002453, HP:0012675 |
| HPO |
HP:0012678 |
Iron accumulation in substantia nigra |
"An anomalous build up of iron (Fe) in the substantia nigra." [HPO:probinson] |
— |
HP:0012675, HP:0045007 |
| HPO |
HP:0012679 |
Widened interpedicular distance |
"An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [UToronto:htrang] |
— |
HP:0008438 |
| HPO |
HP:0012680 |
Abnormality of the pineal gland |
"An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin." [HPO:probinson] |
— |
HP:0000818 |
| HPO |
HP:0012681 |
Abnormal pineal morphology |
"A structural abnormality of the pineal gland." [UToronto:htrang] |
The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies. |
HP:0012443, HP:0012680 |
| HPO |
HP:0012682 |
Pineal gland calcification |
"Accumulation of calcium salts in the pineal gland." [HPO:probinson] |
This feature can be appreciated on skull radiography. |
HP:0012681 |
| HPO |
HP:0012683 |
Pineal cyst |
"A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland." [HPO:probinson, PMID:21801982] |
Pineal cysts are benign and often asymptomatic lesions. They are typically visualized by computed tomography or magnetic resonance imaging. |
HP:0012681 |
| HPO |
HP:0012684 |
Abnormal pineal volume |
"An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland." [UToronto:htrang] |
This feature is typically assessed by magnetic resonance tomography of the brain. |
HP:0012681 |
| HPO |
HP:0012685 |
Decreased pineal volume |
"An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland." [PMID:24456088, UToronto:htrang] |
— |
HP:0012684 |
| HPO |
HP:0012686 |
Increased pineal volume |
"An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland." [UToronto:htrang] |
— |
HP:0012684 |
| HPO |
HP:0012687 |
Agenesis of pineal gland |
"Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present." [UToronto:htrang] |
— |
HP:0002977, HP:0012681 |
| HPO |
HP:0012688 |
Abnormality of pineal physiology |
"A functional abnormality of the pineal gland." [UToronto:htrang] |
— |
HP:0012638, HP:0012680 |
| HPO |
HP:0012689 |
Abnormal pineal melatonin secretion |
"An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland." [PMID:22724080, UToronto:htrang] |
The rhythm of melatonin synthesized in and released from the pineal gland is characterized by a prominent nocturnal peak, which also contains temporal information that had originated in the suprachiasmatic nucleus. Strong reductions of circulating melatonin are also observed in numerous disorders and diseases, including Alzheimer's disease, various other neurological and stressful conditions, pain, cardiovascular diseases, cases of cancer, endocrine and metabolic disorders, in particular diabetes type 2. |
HP:0012688 |
| HPO |
HP:0012690 |
T2 hypointense thalamus |
"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus." [HPO:probinson] |
— |
HP:0012696 |
| HPO |
HP:0012691 |
Focal T2 hypointense thalamic lesion |
"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus." [HPO:probinson] |
— |
HP:0012696 |
| HPO |
HP:0012692 |
Focal T2 hyperintense thalamic lesion |
"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus." [HPO:probinson] |
The term "unidentified bright object" has been used to describe T2 hyperintense lesions in the thalamus and elsewhere in patients with neurofibromatosis. |
HP:0012696 |
| HPO |
HP:0012693 |
Abnormal thalamic size |
"Deviation from the normal range of size of the thalamus." [UToronto:htrang] |
— |
HP:0010663 |
| HPO |
HP:0012694 |
Enlarged thalamic volume |
"An increase in the quantity of space occupied by the thalamus." [UToronto:htrang] |
— |
HP:0012693 |
| HPO |
HP:0012695 |
Decreased thalamic volume |
"A reduction in the quantity of space occupied by the thalamus." [UToronto:htrang] |
— |
HP:0012693 |
| HPO |
HP:0012696 |
Abnormal thalamic MRI signal intensity |
"A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus." [HPO:probinson] |
— |
HP:0010663 |
| HPO |
HP:0012697 |
Small basal ganglia |
"Decreased size of the basal ganglia." [HPO:probinson] |
— |
HP:0002134 |
| HPO |
HP:0012698 |
Cerebellar gliosis |
"Focal proliferation of glial cells in the cerebellum." [UToronto:htrang] |
— |
HP:0001317, HP:0002171 |