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MedGen for PubMed (Select 20007598)

Items: 3

1.

HIV

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

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

Skin/hair/eye pigmentation, variation in, 2

Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. Valverde et al. (1995) noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see 176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; 600201), which antagonizes this action. [from OMIM]

MedGen UID:
376587
Concept ID:
C1849452
Disease or Syndrome
3.

Immunodeficiency 38

IMD38 predisposes individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines (Bogunovic et al., 2012). Patients do not experience severe disease in response to viral infection. Affected individuals have intracranial calcification (Zhang et al., 2015). [from OMIM]

MedGen UID:
808298
Concept ID:
CN221808
Disease or Syndrome
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