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Items: 15

1.

Receptor Signaling

An intercellular process that involves a cellular receptor binding to a cognate ligand and results in a specific cellular response. [from NCI]

MedGen UID:
271464
Concept ID:
C1514762
Molecular Function
2.

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) is characterized by fractures (resulting from radiologically demonstrable polycystic osseous lesions), frontal lobe syndrome, and progressive presenile dementia beginning in the fourth decade. The clinical course of PLOSL can be divided into four stages: (1) The latent stage is characterized by normal early development. (2) The osseous stage (3rd decade of life) is characterized by pain and tenderness, mostly in ankles and feet, usually following strain or injury. Fractures are typically diagnosed several years later, most commonly in the bones of the extremities. (3) In the early neurologic stage (4th decade of life), a change of personality begins to develop insidiously. Affected individuals show a frontal lobe syndrome (loss of judgment, euphoria, loss of social inhibitions, disturbance of concentration, and lack of insight, libido, and motor persistence) leading to serious social problems. (4) The late neurologic stage is characterized by progressive dementia and loss of mobility. Death usually occurs before age 50 years. [from GeneReviews]

MedGen UID:
387795
Concept ID:
C1857316
Congenital Abnormality; Disease or Syndrome
3.

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
4.

Heterogeneous

The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype. [from NCI]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
5.

Cyst

A sac or capsule in the body. It may be filled with fluid or other material. [from NCI]

MedGen UID:
41396
Concept ID:
C0010709
Anatomical Abnormality; Disease or Syndrome
6.

Immune status

Nonsusceptibility to the invasive or pathogenic effects of foreign microorganisms or to the toxic effect of antigenic substances. [from MeSH]

MedGen UID:
9426
Concept ID:
C0020964
Finding; Physiologic Function
7.

Unicameral bone cyst

A benign fluid filled simple cyst of bone filled with serous fluid. [from HPO]

MedGen UID:
2696
Concept ID:
C0005937
Anatomical Abnormality; Disease or Syndrome
8.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
9.

Osteodysplasia

MedGen UID:
593146
Concept ID:
C0410533
Congenital Abnormality
10.

Bone cyst

A fluid filled cavity that develops with a bone. [from HPO]

MedGen UID:
506659
Concept ID:
CN167788
Finding
11.

Leukoencephalopathy

This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. [from HPO]

MedGen UID:
505209
Concept ID:
CN002135
Finding
12.

Leukoencephalopathy

Any of various diseases affecting the white matter of the central nervous system. [from MeSH]

MedGen UID:
78722
Concept ID:
C0270612
Disease or Syndrome
13.

Signal Transduction Pathways

Describes a group of molecules in a cell that work together to control one or more cell functions, such as cell division or cell death. After the first molecule in a pathway receives a signal, it activates another molecule. This process is repeated until the last molecule is activated and the cell function involved is carried out. Abnormal activation of signaling pathways can lead to cancer, and drugs are being developed to block these pathways. This may help block cancer cell growth and kill cancer cells. [from NCI]

MedGen UID:
39530
Concept ID:
C0086982
Cell Function; Molecular Function
14.

Presenile dementia

loss of intellectual functions such as memory, learning, reasoning, problem solving, and abstract thinking while vegetative functions remain intact. [from CRISP]

MedGen UID:
8278
Concept ID:
C0011265
Mental or Behavioral Dysfunction
15.

Frontootopalatodigital Osteodysplasia

MedGen UID:
411702
Concept ID:
C2748919
Disease or Syndrome
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