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Results: 1 to 20 of 56

1.

Chromosomal Instability

The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased frequency of structural chromosome aberrations can be caused by an abnormally high incidence of DNA double-strand breaks and translocations. Screening for chromosomal breakage and rearrangement is used as a diagnostic tool in Fanconi anemia. [from NCI]

MedGen UID:
263436
Concept ID:
C1257806
Cell or Molecular Dysfunction
2.

Instability

MedGen UID:
731956
Concept ID:
C1444783
Finding
3.

PTEN Loss

A molecular abnormality referring to the loss of at least one copy of the PTEN gene (10q23). [from NCI]

MedGen UID:
474326
Concept ID:
C3272693
Cell or Molecular Dysfunction
4.

Genomic Instability

An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional. [from MeSH]

MedGen UID:
182518
Concept ID:
C0919532
Cell or Molecular Dysfunction
5.

Oxidative Stress

A condition in which antioxidant levels are lower than normal. Antioxidant levels are usually measured in blood plasma. [from NCI_NCI-GLOSS]

MedGen UID:
66929
Concept ID:
C0242606
Cell or Molecular Dysfunction
6.

Epidermal growth factor

A protein made by many cells in the body and by some types of tumors. It causes cells to grow and differentiate (become more specialized). It is a type of growth factor and a type of cytokine. [from NCI]

MedGen UID:
66867
Concept ID:
C0242275
Pharmacologic Substance
7.

Glioblastoma

a type of brain tumor [from CHV]

MedGen UID:
42228
Concept ID:
C0017636
Neoplastic Process
8.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
9.

Agar

A complex sulfated polymer of galactose units, extracted from Gelidium cartilagineum, Gracilaria confervoides, and related red algae. It is used as a gel in the preparation of solid culture media for microorganisms, as a bulk laxative, in making emulsions, and as a supporting medium for immunodiffusion and immunoelectrophoresis. [from MeSH]

MedGen UID:
7923
Concept ID:
C0001771
Pharmacologic Substance
10.

DNA damage

Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS. [from MeSH]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
11.

SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
12.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
13.

Glioblastoma

MedGen UID:
506549
Concept ID:
CN117732
Finding
14.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
472512
Concept ID:
CN143712
Disease or Syndrome
15.

EGFR-related lung cancer

MedGen UID:
472093
Concept ID:
CN130014
Disease or Syndrome
16.

Acyl-CoA thioester hydrolase, long-chain, 1

MedGen UID:
351308
Concept ID:
C1865144
17.

Nuclear Pleomorphism

Having nuclei with various distinct forms. [from NCI]

MedGen UID:
273607
Concept ID:
C1518437
Finding
18.

Proliferation

Growth and reproduction of new similar forms, e.g. cells, buds, or offspring. [from NCI]

MedGen UID:
137720
Concept ID:
C0334094
Pathologic Function
19.

Stress

Everyone feels stressed from time to time. Not all stress is bad. All animals have a stress response, and it can be life-saving. But chronic stress can cause both physical and mental harm. There are at least three different types of stress:: -Routine stress related to the pressures of work, family, and other daily responsibilities. -Stress brought about by a sudden negative change, such as losing a job, divorce, or illness. -Traumatic stress, which happens when you are in danger of being seriously hurt or killed. Examples include a major accident, war, assault, or a natural disaster. This type of stress can cause post-traumatic stress disorder (PTSD). Different people may feel stress in different ways. Some people experience digestive symptoms. Others may have headaches, sleeplessness, depressed mood, anger, and irritability. People under chronic stress get more frequent and severe viral infections, such as the flu or common cold. Vaccines, such as the flu shot, are less effective for them. Some people cope with stress more effectively than others. It's important to know your limits when it comes to stress, so you can avoid more serious health effects. NIH: National Institute of Mental Health.  [from MedlinePlus]

MedGen UID:
20971
Concept ID:
C0038435
Finding
20.

Necrosis

A permanent cessation of all vital functions of a tissue. [GOC:dph] [from GO]

MedGen UID:
10199
Concept ID:
C0027540
Pathologic Function

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