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Heavy Chain Disease
Hierarchy: | ∟ ∟ ∟ ∟ ∟ Heavy Chain Disease 22 coordinate concepts1 subordinate concept∟ ∟ ∟ ∟ Heavy Chain Disease 22 coordinate concepts1 subordinate concept∟ ∟ ∟ ∟ Heavy Chain Disease 22 coordinate concepts1 subordinate concept∟ ∟ ∟ ∟ Heavy Chain Disease 22 coordinate concepts1 subordinate conceptX |
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Annotation: | 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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historyNote*: | 66(64)
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publicMeSHNote*: | 66
X |
Scope note: | 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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activeMeSHYear*: | |
dateCreated*: | 1999-01-01X |
dateEstablished*: | 1966-01-01X |
dateRevised*: | 2005-07-01X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | sjnX |
recordOriginator*: | NLMX |
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Labels and equivalent concepts: | Raskasketjutauti (fi) XFranklin's Disease (en, replaced) Franklin Disease (en, replaced) Enfermedad de las Cadenas Pesadas (es) νόσος βαρειών αλυσίδων (el) Schwerkettenkrankheit (de) nemoc těžkých řetězců (cs) Enfermedad de Cadena gamma (es, replaced) Enfermedad de Cadena mu (es, replaced) Enfermedad de Franklin (es, replaced) Gamma-Typ der Schwerkettenkrankheit (de, replaced) Mü-Typ der Schwerkettenkrankheit (de, replaced) Franklin-Krankheit (de, replaced) |
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