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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;   WDR1-RELATED CONDITION;   periodic fever, immunodeficiency, and thrombocytopenia syndrome
 primary_id: MESH:C562721
 alt_id: OMIM:150550


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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 Annotator: match by term: WDR1-related condition 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 18969
    syndrome 10889
      Lazy Leukocyte Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          leukocyte disease 1308
            leukopenia 559
              agranulocytosis 492
                neutropenia 488
                  Lazy Leukocyte Syndrome 1
paths to the root