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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:Castleman disease
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Accession:DOID:0111157 term browser browse the term
Definition:A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. (DO)
Synonyms:exact_synonym: Angiofollicular Lymph Hyperplasias;   Angiofollicular Lymph Node Hyperplasia;   Angiofollicular Lymphoid Hyperplasia;   Angiofollicular Lymphoid Hyperplasias;   Castleman Tumor;   Castleman's Disease;   Castleman's Tumor;   Castlemans Disease;   Castlemans Tumor;   GLNH;   angiofollicular lymph hyperplasia;   giant lymph node hyperplasia;   lymphoid hamartoma
 primary_id: MESH:D005871
 alt_id: RDO:0001923
 xref: EFO:1001332;   GARD:12656;   ICD10CM:D47.Z2;   NCI:C3056;   ORDO:160
For additional species annotation, visit the Alliance of Genome Resources.


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Castleman disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15182131 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
multicentric Castleman disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar PMID:16804045 PMID:28492532 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Mpeg1 macrophage expressed 1 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chr 1:209,452,176...209,456,692
Ensembl chr 1:209,452,133...209,458,855 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31309983 PMID:32051554 PMID:33692461 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: TAFRO syndrome ClinVar NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    syndrome 10787
      primary immunodeficiency disease 4504
        lymphoproliferative syndrome 1025
          Castleman disease 8
            Angiofollicular Ganglionic Hyperplasia 0
            multicentric Castleman disease 7
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      Immune & Inflammatory Diseases 5896
        immune system disease 5107
          Immunoproliferative Disorders 1034
            lymphoproliferative syndrome 1025
              Castleman disease 8
                Angiofollicular Ganglionic Hyperplasia 0
                multicentric Castleman disease 7
paths to the root