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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:Lazy Leukocyte Syndrome
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Accession:DOID:9005933 term browser browse the term
Synonyms:exact_synonym: periodic fever, immunodeficiency, and thrombocytopenia syndrome
 primary_id: MESH:C562721
 alt_id: OMIM:150550
For additional species annotation, visit the Alliance of Genome Resources.


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Lazy Leukocyte Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr1 WD repeat domain 1 ISO ClinVar Annotator: match by term: Lazy leukocyte syndrome ClinVar
OMIM
PMID:205284, PMID:27557945, PMID:27994071, PMID:29751004 NCBI chr14:76,990,014...77,023,739
Ensembl chr14:76,989,919...77,023,726
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Lazy Leukocyte Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1645
          leukocyte disease 498
            leukopenia 124
              agranulocytosis 64
                neutropenia 60
                  Lazy Leukocyte Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.