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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
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 Annotator: match by term: WDR1 deficiency
ClinVar
OMIM
PMID:205284 PMID:27557945 PMID:27994071 PMID:29751004 NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Lazy Leukocyte Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Hemic and Lymphatic Diseases 2326
        hematopoietic system disease 1908
          leukocyte disease 517
            leukopenia 127
              agranulocytosis 63
                neutropenia 59
                  Lazy Leukocyte Syndrome 1
paths to the root