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DeCS
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Descriptor English:
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Heavy Chain Disease
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Descriptor Spanish:
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Enfermedad de las Cadenas Pesadas
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Descriptor Portuguese:
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Doença das Cadeias Pesadas
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Synonyms English:
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Franklin Disease
Franklin's Disease
Franklins Disease
Heavy Chain Diseases
gamma Chain Disease
gamma-Chain Disease
gamma-Chain Diseases
mu Chain Disease
mu-Chain Disease
mu-Chain Diseases
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Tree Number:
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C15.378.147.780.490
C15.604.515.435
C20.683.780.490
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Definition English:
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A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The 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. |
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Indexing Annotation English:
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specify the immunoglobulin fragment coord NIM, as gamma chain dis = HEAVY CHAIN DISEASE (IM) + IMMUNOGLOBULIN GAMMA-CHAINS (NIM); ALPHA-CHAIN DISEASE see IMMUNOPROLIFERATIVE SMALL INTESTINAL DISEASE is available
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See Related English:
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Immunoglobulin Heavy Chains
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History Note English:
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66(64)
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Allowable Qualifiers English:
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Record Number:
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6512
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Unique Identifier:
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D006362
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Occurrence in VHL:
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Similar:
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DeCS
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