Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 19

1.

Dentatorubral pallidoluysian atrophy

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy, and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. Onset ranges from before age one year to age 72 years; mean age of onset is 31.5 years. The clinical presentation varies depending on the age of onset. The cardinal features in adults are ataxia, choreoathetosis, and dementia. Cardinal features in children are progressive intellectual deterioration, behavioral changes, myoclonus, and epilepsy. [from GeneReviews]

MedGen UID:
155630
Concept ID:
C0751781
Disease or Syndrome
2.

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
3.

Much

A subjective response indicating that something is or was a large amount. [from NCI]

MedGen UID:
923949
Concept ID:
C4281574
Finding
4.

Abnormality

A condition that differs from the usual physical or mental state. [from NCI]

MedGen UID:
309940
Concept ID:
C1704258
Finding
5.

Gene Abnormality

A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease. [from NCI]

MedGen UID:
274572
Concept ID:
C1517478
Cell or Molecular Dysfunction
6.

Frequent

Coming at short intervals or in great quantities. [from NCI]

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
7.

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
8.

Disorder of brain

The brain is the control center of the body. It controls thoughts, memory, speech, and movement. It regulates the function of many organs. When the brain is healthy, it works quickly and automatically. However, when problems occur, the results can be devastating. . Inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. Loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. Brain tumors can also press on nerves and affect brain function. Some brain diseases are genetic. And we do not know what causes some brain diseases, such as Alzheimer's disease. The symptoms of brain diseases vary widely depending on the specific problem. In some cases, damage is permanent. In other cases, treatments such as surgery, medicines, or physical therapy can correct the source of the problem or improve symptoms. .  [from MedlinePlus]

MedGen UID:
14214
Concept ID:
C0006111
Disease or Syndrome
9.

Abnormality of the globus pallidus

An abnormality of the globus pallidus. [from HPO]

MedGen UID:
871225
Concept ID:
C4025706
Anatomical Abnormality
10.

Abnormality of the cerebral cortex

An abnormality of the cerebral cortex. [from HPO]

MedGen UID:
871221
Concept ID:
C4025701
Anatomical Abnormality
11.

Abnormality of the striatum

Abnormality of the striatum (FMA:77618). [from HPO]

MedGen UID:
869185
Concept ID:
C4023607
Anatomical Abnormality
12.

Abnormality of the dentate nucleus

An abnormality of the dentate nucleus. [from HPO]

MedGen UID:
867758
Concept ID:
C4022148
Anatomical Abnormality
13.

Abnormality of the glial cells

An abnormality of the glia cell. [from HPO]

MedGen UID:
867607
Concept ID:
C4021993
Anatomical Abnormality
14.

Abnormality of the cerebrum

An abnormality of the telencephalon, which is also known as the cerebrum. [from HPO]

MedGen UID:
867394
Concept ID:
C4021762
Anatomical Abnormality
15.

Abnormality of midbrain morphology

An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. [from HPO]

MedGen UID:
867390
Concept ID:
C4021755
Anatomical Abnormality
16.

Abnormality of forebrain morphology

An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. [from HPO]

MedGen UID:
866620
Concept ID:
C4020967
Anatomical Abnormality
17.

Abnormality of the globus pallidus

An abnormality of the globus pallidus. [from HPO]

MedGen UID:
425100
Concept ID:
CN002227
Finding
18.

Abnormality of brainstem morphology

An anomaly of the brainstem. [from HPO]

MedGen UID:
342543
Concept ID:
C1850601
Finding
19.

Atrophy of the dentate nucleus

Partial or complete wasting (loss) of dentate nucleus. [from HPO]

MedGen UID:
341848
Concept ID:
C1857788
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center