Erdheim-Chester Disease

A very rare, multisystem non-Langerhans cell histiocytosis that predominantly affects adults. It is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. Patients may present with bone pain, exophthalmos, ataxia, liver failure, kidney failure, and hypopituitarism. (NCI Thesaurus)

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ERCP

A procedure that uses an endoscope to examine and x-ray the pancreatic duct, hepatic duct, common bile duct, duodenal papilla, and…

ERCC6 wt Allele

Human ERCC6 wild-type allele is located in the vicinity of 10q11.23 and is approximately 80 kb in length. This allele, which encodes…

ERCC6 Gene

This gene plays a role in transcription-coupled and global genome-DNA repair.

ERCC5 wt Allele

Human ERCC5 wild-type allele is located in the vicinity of 13q33.1 and is approximately 30 kb in length. This allele, which encodes…

ERCC5 Gene

This gene plays a role in the nucleotide base excision repair of UV-induced DNA damage and mutations of the gene cause Cockayne…

ERCC4 wt Allele

Human ERCC4 wild-type allele is located within 16p13.3-p13.11 and is approximately 28 kb in length. This allele, which encodes DNA repair endonuclease…