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Xeroderma Pigmentosum

More information in Books or onNLM PubMed
Definition: A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.  if non-neoplastic, coordinate IM with precoordinated organ/disease term (IM); if neoplastic, coordinate IM with organ/neoplasm term (IM); do not confuse KAPOSI DISEASE with SARCOMA, KAPOSI    Other names Kaposi Disease; Kaposis Disease; Kaposi's Disease
 
SubstanceCAS Registry & nameCategoriesSource
XPA protein, rat  0   *DNA-Binding Proteins DNA Repair Xeroderma Pigmentosum. J Biol Chem 1997 Mar 7;272(10):6561-6
Xeroderma pigmentosum, variant type  0   *Xeroderma Pigmentosum.
Xeroderma pigmentosum, type 9  0   *Xeroderma Pigmentosum.
De Sanctis-Cacchione syndrome  0   *Dwarfism *Hypogonadism *Intellectual Disability *Xeroderma Pigmentosum.
Ddb1 protein, mouse  0   *DNA-Binding Proteins DNA Damage Xeroderma Pigmentosum.
Ddb1 protein, rat  0   *DNA-Binding Proteins DNA Damage Xeroderma Pigmentosum.
DDB2 protein, human  0   *DNA-Binding Proteins Xeroderma Pigmentosum. Genomics 1995 Sep 1;29(1):62-9
Rad30 protein  EC 2.7.7.7   *DNA-Directed DNA Polymerase DNA Repair Xeroderma Pigmentosum. Mol Gen Genet 1998 Apr;257(6):686-92
DDB1 protein, human  0   *DNA-Binding Proteins DNA Damage Xeroderma Pigmentosum. Eur J Hum Genet 1998 Jul-Aug;6(4):400-5; J Virol 1995 Feb;69(2):1107-14; Mol Cell Biol 1998 Jul;18(7):4391-9; Mutat Res 1994 Oct 1;310(1):89-102
XPC protein, human  156533-34-5   *DNA-Binding Proteins DNA Repair Transglutaminases Xeroderma Pigmentosum. EMBO J 1994 Apr 15;13(8):1831-43

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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