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Items: 10

1.

Hiv

An infection caused by the human immunodeficiency virus. [from NCI]

MedGen UID:
5583
Concept ID:
C0019693
Disease or Syndrome
2.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
3.

Carcinoma of cervix

The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cervical cancer is caused by several types of a virus called human papillomaviruses (HPV). The virus spreads through sexual contact. Most women's bodies are able to fight HPV infection. But sometimes the virus leads to cancer. You're at higher risk if you smoke, have many children, use birth control pills for a long time, or have HIV infection. . Cervical cancer may not cause any symptoms at first, but later, you may have pelvic pain or bleeding from the vagina. It usually takes several years for normal cells in the cervix to turn into cancer cells. Your health care provider can find abnormal cells by doing a Pap test - examining cells from the cervix under a microscope. By getting regular Pap tests and pelvic exams you can find and treat changing cells before they turn into cancer. A vaccine for girls and young women protects against the four types of HPV that cause most cervical cancers. . NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
86222
Concept ID:
C0302592
Neoplastic Process
4.

Neoplasm

A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
5.

Immunodeficiency

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. [from NCI]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
6.

Immunodeficiency 47

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016). [from OMIM]

MedGen UID:
881232
Concept ID:
CN236829
Disease or Syndrome
7.

Immunodeficiency 45

MedGen UID:
851876
Concept ID:
CN233357
Disease or Syndrome
8.

Immunodeficiency 39

MedGen UID:
833829
Concept ID:
CN230175
Disease or Syndrome
9.

Immunodeficiency 29

IMD29 results from autosomal recessive IL12B deficiency and is characterized by undetectable IL12B secretion from leukocytes. IL12B-deficient patients generally present with bacillus Calmette-Guerin (BCG) disease after vaccination in childhood, and at least half also have Salmonella infection. Infections with Mycobacterium tuberculosis and environmental mycobacteria have also been reported in IL12B-deficient patients. The phenotype is relatively mild, and patients have a good prognosis (review by Al-Muhsen and Casanova, 2008). [from OMIM]

MedGen UID:
807417
Concept ID:
CN219203
Disease or Syndrome
10.

Familial atypical mycobacteriosis, type 1, X-linked

IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (300291), together with osteopetrosis and lymphedema (300301) in some patients, and immunodeficiency without ectodermal dysplasia (300584). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see 161561) production, resulting in impaired IFNG (147570) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008). [from OMIM]

MedGen UID:
370376
Concept ID:
C1970879
Disease or Syndrome
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