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Results: 1 to 20 of 35

1.

Hypoxia

A condition in which there is a decrease in the oxygen supply to a tissue. In cancer treatment, the level of hypoxia in a tumor may help predict the response of the tumor to the treatment. [from NCI]

MedGen UID:
66846
Concept ID:
C0242184
Pathologic Function
2.

Familial leiomyomatosis

MedGen UID:
797509
Concept ID:
CN205220
Disease or Syndrome
3.

Renal cell carcinoma

MedGen UID:
775811
Concept ID:
CN182935
Disease or Syndrome
4.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
5.

Hereditary leiomyomatosis and renal cell cancer

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is characterized by cutaneous leiomyomata (multiple or single in 76% of affected individuals), uterine leiomyomata (fibroids), and/or a single renal tumor. Cutaneous leiomyomata appear as skin-colored to light brown papules or nodules distributed over the trunk and extremities, and occasionally on the face, and appear at a mean age of 25 years, increasing in size and number with age. Uterine leiomyomata are present in almost all females with HLRCC and tend to be numerous and large; age at diagnosis ranges from 18 to 52 years, with most women experiencing irregular or heavy menstruation and pelvic pain. Renal tumors causing hematuria, lower back pain, and a palpable mass are usually unilateral, solitary, and aggressive and range from type 2 papillary to tubulo-papillary to collecting-duct carcinomas. They occur in about 10%-16% of individuals with HLRCC; the median age of detection is 44 years. [from GeneReviews]

MedGen UID:
353771
Concept ID:
C1708350
Neoplastic Process
6.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
7.

Glucocorticoid-remediable aldosteronism

Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (605635) has been mapped to chromosome 7p22. Familial hyperaldosteronism type III (613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. [from OMIM]

MedGen UID:
224694
Concept ID:
C1260386
Disease or Syndrome
8.

Metabolic Networks and Pathways

Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites. [from MeSH]

MedGen UID:
328456
Concept ID:
C1721099
Molecular Function
9.

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
10.

Female Urogenital Diseases

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

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
11.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
12.

Genetic Diseases, Inborn

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
13.

Murine

MedGen UID:
108834
Concept ID:
C0591833
Pharmacologic Substance
14.

Myofibroblastoma

A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma. [from NCI]

MedGen UID:
66894
Concept ID:
C0242404
Neoplastic Process
15.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
16.

Amino acid

One of several molecules that join together to form proteins. There are 20 common amino acids found in proteins. [from NCI]

MedGen UID:
250
Concept ID:
C0002520
Pharmacologic Substance
17.

Adenine Nucleotides

condensation product of adenosine and phosphoric acid; a nucleotide found among the hydrolysis products of all nucleic acids. [from CRISP]

MedGen UID:
120
Concept ID:
C0001413
Pharmacologic Substance
18.

Citric Acid, Anhydrous

A tricarboxylic acid found in citrus fruits. Citric acid is used as an excipient in pharmaceutical preparations due to its antioxidant properties. It maintains stability of active ingredients and is used as a preservative. It is also used as an acidulant to control pH and acts as an anticoagulant by chelating calcium in blood. [from NCI]

MedGen UID:
149007
Concept ID:
C0725616
Pharmacologic Substance
19.

Deficiency of hydrolyase

MedGen UID:
713891
Concept ID:
C1291595
Disease or Syndrome
20.

Deficiency of carbon-oxygen lyase

MedGen UID:
713890
Concept ID:
C1291594
Disease or Syndrome

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