Id http://purl.bioontology.org/ontology/CSP/0449-3246
http://purl.bioontology.org/ontology/CSP/0449-3246
Preferred Name

heavy chain disease

Definitions
disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine; amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains; the defect arises through faulty coupling of the variable (V) and constant (C) region genes.
Synonyms
Franklin's disease
Type http://www.w3.org/2002/07/owl#Class
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