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Last uploaded:
September 25, 2013
| 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 |
All Properties
| definition | 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. |
|---|---|
| altLabel | Franklin's disease
|
| prefLabel | heavy chain disease
|
| type | |
| tui |
T047
T191
|
| notation | 0449-3246
|
| Semantic type UMLS property | |
| DID | 0449-3246
|
| cui |
C0018852
C0018854
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |