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1.

Oncocytoma of kidney

A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. [from HPO]

MedGen UID:
91094
Concept ID:
C0346255
Neoplastic Process
2.

DEFB1 protein, human

Beta-defensin 1 (68 aa, ~7 kDa) is encoded by the human DEFB1 gene. This protein is involved in chemotaxis and has bactericidal activity. [from NCI]

MedGen UID:
122417
Concept ID:
C0625647
Amino Acid, Peptide, or Protein; Immunologic Factor; Pharmacologic Substance
3.

Renal neoplasm

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

MedGen UID:
5967
Concept ID:
C0022665
Neoplastic Process
4.

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
5.

Papillary Adenoma

A benign epithelial neoplasm characterized by the presence of papillary epithelial patterns. [from NCI_CDISC]

MedGen UID:
59999
Concept ID:
C0205650
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.

Diagnosis

Description:The source act is intended to help establish the presence of a (an adverse) situation described by the target act. This is not limited to diseases but can apply to any adverse situation or condition of medical or technical nature.  [from HL7]

MedGen UID:
8354
Concept ID:
C0011900
Finding
8.

Carcinoma

A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). [from HPO]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
9.

Pituitary Gland Chromophobe Adenoma

A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes. [from MeSH]

MedGen UID:
1747
Concept ID:
C0001432
Neoplastic Process
10.

Papillary Adenocarcinoma

A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. [from NCI]

MedGen UID:
123
Concept ID:
C0001420
Neoplastic Process
11.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
12.

Neoplasms

MedGen UID:
880980
Concept ID:
CN236628
Disease or Syndrome
13.

Renal oncocytoma

MedGen UID:
807621
Concept ID:
CN220156
Finding
14.

Renal cell carcinoma

MedGen UID:
775811
Concept ID:
CN182935
Disease or Syndrome
15.

Renal cell carcinoma

A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. [from HPO]

MedGen UID:
505836
Concept ID:
CN004944
Finding
16.

Renal cell carcinoma, nonpapillary

The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see 605074) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma. Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). Genetic Heterogeneity of Renal Cell Carcinoma Germline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (142410) and the HNF1B gene (189907). Somatic mutations in renal cell carcinomas occur in the VHL gene (608537), the TRC8 gene (603046), the OGG1 gene (601982), the ARMET gene (601916), the FLCN gene (607273), and the BAP1 gene (603089). See also RCCX1 (300854) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (314310). For a discussion of papillary renal cell carcinoma, see RCCP1 (605074). Occurrence of Renal Cell Carcinoma in Other Disorders Von Hippel-Lindau syndrome (193300) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (605839). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (603903) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (135150). Bertolotto et al. (2011) identified a missense mutation in the MITF (156845) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8; 614456). [from OMIM]

MedGen UID:
463622
Concept ID:
C3160732
17.

Oxyphilic adenoma

Oncocytomas are usually benign tumors that occur in various organs but particularly in the kidneys. Histologic evaluation of renal oncocytomas shows that they are composed entirely of peculiar epithelial cells with granular eosinophilic cytoplasm. Ultrastructural characterization exhibits densely packed cells with mitochondria, which show morphologic differences from those in normal cells. On the average they are larger than those in renal carcinoma cells and their shape is abnormal (summary by Welter et al., 1989). [from OMIM]

MedGen UID:
307150
Concept ID:
C1510502
Neoplastic Process
18.

Clear cell carcinoma of kidney

A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. [from HPO]

MedGen UID:
76018
Concept ID:
C0279702
Neoplastic Process
19.

Renal cell carcinoma, papillary, 1

Hereditary papillary renal cell carcinoma is characterized by the development of multiple, bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is consistent with autosomal dominant inheritance with incomplete penetrance. Papillary renal cell carcinoma is histologically and genetically distinct from 2 other forms of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed the molecular genetics of familial and nonfamilial cases of renal cell carcinoma, including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and X. For background information and a discussion of genetic heterogeneity of nonpapillary renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by germline mutation in the FH gene (136850). [from OMIM]

MedGen UID:
766
Concept ID:
C0007134
Neoplastic Process
20.

Male Urogenital Diseases

Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE). [from MeSH]

MedGen UID:
318601
Concept ID:
C1720894
Disease or Syndrome
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