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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:immunoglobulin light chain amyloidosis
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Accession:DOID:0080933 term browser browse the term
Definition:An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. (DO)
Synonyms:exact_synonym: AL amyloidosis;   Light chain amyloidosis;   Primary AL amyloidosis;   Primary Amyloidosis;   Primary Systemic Amyloidosis;   Primary systemic AL amyloidosis;   primary amyloid;   systemic AL amyloidsis
 primary_id: MESH:D000075363
 alt_id: DOID:9005869
 xref: ICD10CM:E85.81;   MONDO:0019438;   NCI:C158963


show annotations for term's descendants           Sort by:
immunoglobulin light chain amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5413
        heart disease 3329
          immunoglobulin light chain amyloidosis 3
Path 2
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        Proteostasis Deficiencies 793
          amyloidosis 60
            amyloidoma 3
              immunoglobulin light chain amyloidosis 3
paths to the root