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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
Definition:An autosomal recessive immunologic disorder with variable manifestations. Common features include early-onset recurrent respiratory infections, stomatitis, and cutaneous infections.
Synonyms:exact_synonym: PFITS;   WDR1 DEFICIENCY;   periodic fever, immunodeficiency, and thrombocytopenia syndrome
 primary_id: MESH:C562721
 alt_id: OMIM:150550


show annotations for term's descendants           Sort by:
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 Annotator: match by term: WDR1 deficiency OMIM
ClinVar		 PMID:205284 PMID:25741868 PMID:27557945 PMID:27994071 PMID:28492532 More... NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Lazy Leukocyte Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      Hemic and Lymphatic Diseases 3833
        hematopoietic system disease 3324
          leukocyte disease 1298
            leukopenia 559
              agranulocytosis 492
                neutropenia 488
                  Lazy Leukocyte Syndrome 1
paths to the root