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Items: 1 to 20 of 73

1.

Somatic mutation

Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer. [from NCI]

MedGen UID:
107465
Concept ID:
C0544886
Cell or Molecular Dysfunction
2.

Renal neoplasm

The presence of a neoplasm of the kidney. [from HPO]

MedGen UID:
5967
Concept ID:
C0022665
Neoplastic Process
3.

Epithelial Neoplasm

A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. [from NCI]

MedGen UID:
277963
Concept ID:
C1368683
Neoplastic Process
4.

Cylindroma

A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative. [from NCI]

MedGen UID:
220995
Concept ID:
C1305968
Neoplastic Process
5.

Tubular Adenocarcinoma

An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. [from NCI]

MedGen UID:
61428
Concept ID:
C0205645
Neoplastic Process
6.

Neoplasm

An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). [from HPO]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
7.

Perivascular spaces

Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. [from HPO]

MedGen UID:
892388
Concept ID:
C4020719
Anatomical Abnormality
8.

Neoplasms

MedGen UID:
880980
Concept ID:
CN236628
Disease or Syndrome
9.

Renal cyst

A cyst is a fluid-filled sac. There are two types of kidney cysts. . Polycystic kidney disease (PKD) runs in families. In PKD, the cysts take the place of the normal tissue. They enlarge the kidneys and make them work poorly, leading to kidney failure. When PKD causes kidneys to fail - which usually happens after many years - people need dialysis or kidney transplantation. About half of people with the most common type of PKD end up with kidney failure. PKD also causes cysts in other parts of the body, such as the liver. . Symptoms of PKD include. -Pain in the back and lower sides. -Headaches. -Urinary tract infections. -Blood in the urine. Doctors diagnose PKD with imaging tests and family history. Treatments include medications, and, when people with PKD develop kidney failure, dialysis or kidney transplants. Acquired cystic kidney disease (ACKD) usually happens in people who are on dialysis. Unlike PKD, the kidneys are normal sized, and cysts do not form in other parts of the body. People with ACKD already have chronic kidney disease when they develop cysts. ACKD often has no symptoms. In most cases, the cysts are harmless and do not need treatment. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
10.

Familial cylindromatosis

MedGen UID:
830968
Concept ID:
CN200988
Disease or Syndrome
11.

Weakly positive

MedGen UID:
617730
Concept ID:
C0442730
Finding
12.

Periodic

MedGen UID:
568177
Concept ID:
C0332182
Temporal Concept
13.

Apocrine Differentiation

A morphologic finding that indicates the presence of cells with abundant eosinophilic and granular cytoplasm in a tumor sample. [from NCI]

MedGen UID:
408134
Concept ID:
C1883670
Finding
14.

Cylindromatosis, familial

The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial trichoepithelioma were originally described as distinct clinical entities. Patients with BRSS develop multiple skin appendage tumors including cylindromas, trichoepitheliomas, and spiradenomas. Patients with familial cylindromatosis have only cylindromas, and those with MFT1 have only trichoepitheliomas. However, because these disorders show overlapping phenotypic features, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Guggenheim and Schnyder, 1961; Welch et al., 1968; Gerretsen et al., 1995; Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Van Balkom and Hennekam (1994), who preferred the designation 'dermal eccrine cylindromatosis' for familial cylindromatosis, provided a review. 'Eccrine' referred to histologic evidence that the tumors may originate from the eccrine sweat glands. Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations. [from OMIM]

MedGen UID:
343593
Concept ID:
C1851526
Pathologic Function
15.

Perivascular spaces

Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. [from HPO]

MedGen UID:
342926
Concept ID:
C1853618
Finding
16.

Sporadic

Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [from HPO]

MedGen UID:
342827
Concept ID:
C1853237
Finding
17.

Abnormality

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

MedGen UID:
309940
Concept ID:
C1704258
Finding
18.

Short arm

MedGen UID:
98429
Concept ID:
C0426857
Finding
19.

Progressive hereditary glomerulonephritis without deafness

MedGen UID:
98012
Concept ID:
C0403443
Disease or Syndrome
20.

Focal

Area of greatest concentration, attention, or activity; a central point or locus, especially of an infection. [from NCI]

MedGen UID:
61391
Concept ID:
C0205234
Spatial Concept
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