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Items: 1 to 20 of 21

1.

Unspecified encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [from HPO]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
2.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
3.

Encephalopathy

MedGen UID:
368408
Concept ID:
C1963101
Finding
4.

Tauopathies

Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (TAU PROTEINS) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with ALZHEIMER DISEASE; DEMENTIA; PARKINSONIAN DISORDERS; progressive supranuclear palsy (SUPRANUCLEAR PALSY, PROGRESSIVE); and corticobasal degeneration. [from MeSH]

MedGen UID:
181880
Concept ID:
C0949664
Disease or Syndrome
5.

Dementia

Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. . Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
99229
Concept ID:
C0497327
Finding; Mental or Behavioral Dysfunction
6.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
7.

Neurofibrillary tangles

Abnormal structures located in various parts of the brain and composed of dense arrays of paired helical filaments (neurofilaments and microtubules). These double helical stacks of transverse subunits are twisted into left-handed ribbon-like filaments that likely incorporate the following proteins: (1) the intermediate filaments: medium- and high-molecular-weight neurofilaments; (2) the microtubule-associated proteins map-2 and tau; (3) actin; and (4) UBIQUITINS. As one of the hallmarks of ALZHEIMER DISEASE, the neurofibrillary tangles eventually occupy the whole of the cytoplasm in certain classes of cell in the neocortex, hippocampus, brain stem, and diencephalon. The number of these tangles, as seen in post mortem histology, correlates with the degree of dementia during life. Some studies suggest that tangle antigens leak into the systemic circulation both in the course of normal aging and in cases of Alzheimer disease. [from MeSH]

MedGen UID:
39273
Concept ID:
C0085400
Cell or Molecular Dysfunction; Finding
8.

Ventriculomegaly

An increase in size of the ventricular system of the brain. [from HPO]

MedGen UID:
480553
Concept ID:
C3278923
Finding
9.

Diarrhea 5, with tufting enteropathy, congenital

Congenital tufting enteropathy (CTE) is a rare inherited intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. CTE presents in the first few months of life with chronic watery diarrhea and failure to thrive, and most affected individuals require parenteral nutrition for normal growth and development (summary by Sivagnanam et al., 2008). Semiquantitative assessment of the epithelial surface in CTE patients revealed that 80 to 90% contained tufts, compared to only 16% in patients with celiac disease and less than 10% in normal jejunum (Reifen et al., 1994). For a discussion of phenotypic and genetic heterogeneity of congenital diarrhea, see DIAR1 (214700). [from OMIM]

MedGen UID:
413031
Concept ID:
C2750737
Disease or Syndrome
10.

Cavum septum pellucidum

If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. [from HPO]

MedGen UID:
327087
Concept ID:
C1840380
Finding
11.

Gait disturbance

The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. [from HPO]

MedGen UID:
107895
Concept ID:
C0575081
Finding; Finding
12.

Steppage gait

An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. [from HPO]

MedGen UID:
98105
Concept ID:
C0427149
Finding; Sign or Symptom
13.

Personality changes

An abnormal shift in patterns of thinking, acting, or feeling. [from HPO]

MedGen UID:
66817
Concept ID:
C0240735
Sign or Symptom
14.

Waddling gait

MedGen UID:
66667
Concept ID:
C0231712
Finding; Sign or Symptom
15.

Parkinsonism

Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. [from HPO]

MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
16.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
17.

Morphological abnormality of the central nervous system

A structural abnormality of the central nervous system. [from HPO]

MedGen UID:
3306
Concept ID:
C0007682
Disease or Syndrome
18.

Frontal cortical atrophy

Atrophy of the frontal cortex. [from HPO]

MedGen UID:
870517
Concept ID:
C4024965
Anatomical Abnormality
19.

Hypoplasia of the frontal lobes

Underdevelopment of the frontal lobe of the cerebrum. [from HPO]

MedGen UID:
341396
Concept ID:
C1849172
Finding
20.

Diffuse cerebral atrophy

Diffuse unlocalised atrophy affecting the cerebrum. [from HPO]

MedGen UID:
108958
Concept ID:
C0598275
Finding; Finding
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