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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:X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities
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Accession:DOID:9002181 term browser browse the term
Synonyms:exact_synonym: XLANP
 primary_id: OMIM:300835
For additional species annotation, visit the Alliance of Genome Resources.


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X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by OMIM:300835
ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
ClinVar
OMIM
PMID:15895080, PMID:16783379, PMID:22706301, PMID:24453067, PMID:24766296, PMID:24952648 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      hematopoietic system disease 1646
        anemia 409
          X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          leukocyte disease 499
            leukopenia 124
              agranulocytosis 64
                neutropenia 60
                  X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities 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.