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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:Familial Mixed Cryoglobulinemia
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Accession:DOID:9004792 term browser browse the term
Synonyms:exact_synonym: Meltzer Syndrome
 primary_id: MESH:C565141
 alt_id: OMIM:123550
For additional species annotation, visit the Alliance of Genome Resources.



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Familial Mixed Cryoglobulinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor IIIa treatment ISO DNA:polymorphism: :p.V176F (human) RGD PMID:21538321 RGD:11344956 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          Familial Mixed Cryoglobulinemia 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          blood coagulation disease 651
            hemorrhagic disease 641
              vascular hemostatic disease 318
                cryoglobulinemia 9
                  Familial Mixed Cryoglobulinemia 1
paths to the root