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Items: 19

1.

DNA damage

Drug-, radiation-induced, or spontaneous injuries to DNA that introduce deviations from its normal double-helical conformation. These changes include structural distortions that interfere with replication and transcription, as well as point mutations that disrupt base pairs and exert damaging effects on future generations through changes in DNA sequence. If the damage is minor, it can often be repaired (DNA repair); extensive damage can induce apoptosis. [from NCI]

MedGen UID:
3880
Concept ID:
C0012860
Cell or Molecular Dysfunction
2.

Multiple epiphyseal dysplasia 1

Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints. [from GTR]

MedGen UID:
325376
Concept ID:
C1838280
Disease or Syndrome
3.

Irinotecan

A semisynthetic derivative of camptothecin, a cytotoxic, quinoline-based alkaloid extracted from the Asian tree Camptotheca acuminata. Irinotecan, a prodrug, is converted to a biologically active metabolite 7-ethyl-10-hydroxy-camptothecin (SN-38) by a carboxylesterase-converting enzyme. One thousand-fold more potent than its parent compound irinotecan, SN-38 inhibits topoisomerase I activity by stabilizing the cleavable complex between topoisomerase I and DNA, resulting in DNA breaks that inhibit DNA replication and trigger apoptotic cell death. Because ongoing DNA synthesis is necessary for irinotecan to exert its cytotoxic effects, it is classified as an S-phase-specific agent. [from NCI]

MedGen UID:
50757
Concept ID:
C0123931
Organic Chemical; Pharmacologic Substance
4.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
5.

Fluorouracil

A pyrimidine analog that is an antineoplastic antimetabolite. It interferes with DNA synthesis by blocking the THYMIDYLATE SYNTHETASE conversion of deoxyuridylic acid to thymidylic acid. [from MeSH]

MedGen UID:
5229
Concept ID:
C0016360
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
6.

Much

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

MedGen UID:
923949
Concept ID:
C4281574
Finding
7.

Prepared

MedGen UID:
881385
Concept ID:
C4082130
Finding
8.

Position

The anatomical localization of the specified phenotypic abnormality. [from HPO]

MedGen UID:
866377
Concept ID:
C4019252
Spatial Concept
9.

5-[18F]Fluorouracil

The fluorine-18 (18F)-radiolabeled pyrimidine analog 5-fluorouracil (5-FU) with positron-emitting activity. Upon administration, 5-[18F]fluorouracil distribution in tumor tissue may be measured with positron emission tomography (PET). The degree of 5-[18F]fluorouracil uptake in tumor tissue may help to predict the response to 5-fluorouracil-based chemotherapy or to determine the response to other therapeutic agents used to treat 5-FU-sensitive tumors. [from NCI]

MedGen UID:
398465
Concept ID:
C2700356
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
10.

Cytotoxicity

The adverse effect of some iatrogenic therapies. It is an accepted side effect in radiation therapy where the desired effect is to kill rapidly growing tumor cells. In the killing of tumor cells, other cells that are rapidly growing e.g hair, mucous membranes are also killed. [from NCI]

MedGen UID:
108579
Concept ID:
C0596402
Cell or Molecular Dysfunction
11.

Endoglycosidases

MedGen UID:
760845
Concept ID:
C3537242
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
12.

DNA Methylation

The process by which methyl groups are added to nucleotides in genomic DNA. [from NCI]

MedGen UID:
138191
Concept ID:
C0376452
Molecular Function
13.

Base Pair Mismatch

The presence of an uncomplimentary base in double-stranded DNA caused by spontaneous deamination of cytosine or adenine, mismatching during homologous recombination, or errors in DNA replication. Multiple, sequential base pair mismatches lead to formation of heteroduplex DNA; (NUCLEIC ACID HETERODUPLEXES). [from MeSH]

MedGen UID:
109084
Concept ID:
C0600501
Cell or Molecular Dysfunction
14.

Guanidine

A strong organic base existing primarily as guanidium ions at physiological pH. It is found in the urine as a normal product of protein metabolism. It is also used in laboratory research as a protein denaturant. (From Martindale, the Extra Pharmacopoeia, 30th ed and Merck Index, 12th ed) It is also used in the treatment of myasthenia and as a fluorescent probe in HPLC. [from MeSH]

MedGen UID:
92574
Concept ID:
C0120446
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
15.

Deoxyribonuclease

Enzymes that catalyze the hydrolytic cleavage of phosphodiester bond linkages in the DNA backbone. Deoxyribonucleases belong to a larger family of nucleases, which cleave DNA bases at various positions in the DNA backbone. [from NCI]

MedGen UID:
8321
Concept ID:
C0011522
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
16.

Glycosidase

covering the sugar hydrolases. [from CRISP]

MedGen UID:
5349
Concept ID:
C0017976
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
17.

Antineoplastic agent

A substance that inhibits the maturation, growth or spread of tumor cells. [from NCI]

MedGen UID:
1984
Concept ID:
C0003392
Organic Chemical; Pharmacologic Substance
18.

SN-38 response - Other

MedGen UID:
881047
Concept ID:
CN236455
Sign or Symptom
19.

irinotecan response - Other

MedGen UID:
881045
Concept ID:
CN236597
Sign or Symptom
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