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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:Thrombocytopenia 1
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Accession:DOID:9000557 term browser browse the term
Synonyms:exact_synonym: THC;   THC1;   Thrombocytopenia, X-Linked, 1;   X-Linked Thrombocytopenia;   XLT
 narrow_synonym: THROMBOCYTOPENIA, X-LINKED, 1 THROMBOCYTOPENIA, X-LINKED, INTERMITTENT
 primary_id: MESH:C564052;   RDO:0013145
 alt_id: OMIM:313900
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Thrombocytopenia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO associated with Beta-Thalassemia;DNA:missense mutation: :p.R216Q (human) RGD PMID:12200364 RGD:10450747 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by OMIM:313900
ClinVar Annotator: match by term: Thrombocytopenia, X-linked
ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, 1
OMIM
ClinVar
PMID:7753869, PMID:7795648, PMID:8528198, PMID:8528199, PMID:8595430, PMID:8666397, PMID:8757563, PMID:9326235, PMID:10575547, PMID:11167787, PMID:11442475, PMID:11793485, PMID:12199801, PMID:12591280, PMID:12727931, PMID:12969986, PMID:14504083, PMID:14612666, PMID:15284122, PMID:16562789, PMID:19817875, PMID:20173115, PMID:21185603, PMID:23160469, PMID:24210885, PMID:24728327, PMID:25741868, PMID:26261240, PMID:27264129, PMID:28492532, PMID:28641574, PMID:28931895, PMID:31064749 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            X-linked monogenic disease 920
              Thrombocytopenia 1 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1645
          blood coagulation disease 624
            hemorrhagic disease 611
              blood platelet disease 292
                thrombocytopenia 219
                  Thrombocytopenia 1 2
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.