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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;   Primary AL amyloidosis;   Primary Amyloidosis;   Primary systemic AL amyloidosis;   light chain amyloidosis;   primary amyloid;   primary systemic amyloidosis;   systemic AL amyloidsis
 alt_id: DOID:9005869
 xref: ICD10CM:E85.81;   MESH:D000075363;   MONDO:0019438;   NCI:C158963


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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 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO protein:increased expression:renal glomeruli (human) RGD PMID:16164636 RGD:7207084 NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:12,925,280...12,938,826 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      endocrine system disease 5302
        liver disease 2749
          immunoglobulin light chain amyloidosis 3
Path 2
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        Proteostasis Deficiencies 559
          amyloidosis 53
            amyloidoma 3
              immunoglobulin light chain amyloidosis 3
paths to the root