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1.

Polyp

A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. [from NCI]

MedGen UID:
19397
Concept ID:
C0032584
Anatomical Abnormality
2.

Adenoma

A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. [from NCI]

MedGen UID:
125
Concept ID:
C0001430
Neoplastic Process
3.

Sessile Serrated Adenoma/Polyp

A polyp that arises from the large intestine and the appendix. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability. [from NCI]

MedGen UID:
473643
Concept ID:
C2732618
Neoplastic Process
4.

Traditional Serrated Adenoma

An adenoma that arises from the large intestine and the appendix. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia. [from NCI]

MedGen UID:
226832
Concept ID:
C1266025
Neoplastic Process
5.

Microsatellite Instability

Genomic instability associated with defective DNA mismatch repair in tumors. [from NCI]

MedGen UID:
182529
Concept ID:
C0920269
Pathologic Function
6.

Carcinogenesis

A pathological process in which normal cells are transformed into malignant cancer cells within a primary tumor. [from NCI]

MedGen UID:
154544
Concept ID:
C0596263
Neoplastic Process
7.

Familial multiple polyposis syndrome

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis. [from GTR]

MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
8.

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
9.

Carcinoma

A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm and not a synonym for "cancer." [from MeSH]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
10.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
11.

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. [from ORDO]

MedGen UID:
831224
Concept ID:
CN205955
Disease or Syndrome
12.

Wild type ATTR amyloidosis

MedGen UID:
799144
Concept ID:
CN204235
Disease or Syndrome
13.

Instability

MedGen UID:
731956
Concept ID:
C1444783
Finding
14.

Right

Being located on the right side of the body. [from HPO]

MedGen UID:
619189
Concept ID:
C0444532
Spatial Concept
15.

Left

Being located on the left side of the body. [from HPO]

MedGen UID:
618170
Concept ID:
C0443246
Spatial Concept
16.

Schopf-Schulz-Passarge syndrome

MedGen UID:
347366
Concept ID:
C1857069
Disease or Syndrome
17.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Neoplastic Process
18.

Polyposis

The development of numerous polyps (growths that protrude from a mucous membrane). [from NCI_NCI-GLOSS]

MedGen UID:
137722
Concept ID:
C0334108
Neoplastic Process
19.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
20.

Frequent

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

MedGen UID:
87144
Concept ID:
C0332183
Temporal Concept
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