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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:Lymphadenopathy
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Accession:DOID:9004150 term browser browse the term
Definition:Disease of LYMPH NODES which are abnormal in size, number or consistency.
Synonyms:exact_synonym: adenopathies;   adenopathy;   lymphadenopathies
 primary_id: MESH:D000072281


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Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:10676886 RGD:14398737 NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
Autoinflammation with Episodic Fever and Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30591564 PMID:31827280 PMID:31827281 More... NCBI chr17:31,044,983...31,077,167
Ensembl chr17:30,839,650...30,871,824 		JBrowse link
Immunoblastic Lymphadenopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chr 6:32,507,316...32,621,678
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 PMID:24584070 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413737 NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534 		JBrowse link
immunodeficiency 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6st interleukin 6 cytokine family signal transducer ISO ClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic facies OMIM
ClinVar		 PMID:19020503 PMID:25741868 PMID:33517393 NCBI chr 2:45,798,872...45,839,501
Ensembl chr 2:44,066,130...44,109,936 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      immune system disease 5077
        lymphatic system disease 1742
          lymph node disease 48
            Lymphadenopathy 7
              Autoinflammation with Episodic Fever and Lymphadenopathy 1
              Immunoblastic Lymphadenopathy 4
              Lofgren’s syndrome 0
              immunodeficiency 94 1
              persistent generalized lymphadenopathy 0
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      Immune & Inflammatory Diseases 5759
        immune system disease 5077
          lymphatic system disease 1742
            lymph node disease 48
              Lymphadenopathy 7
                Autoinflammation with Episodic Fever and Lymphadenopathy 1
                Immunoblastic Lymphadenopathy 4
                Lofgren’s syndrome 0
                immunodeficiency 94 1
                persistent generalized lymphadenopathy 0
paths to the root