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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;   X-Linked Thrombocytopenia;   X-linked thrombocytopenia 1;   XLT
 narrow_synonym: X-linked thrombocytopenia, intermittent
 primary_id: MESH:C564052
 alt_id: OMIM:313900
For additional species annotation, visit the Alliance of Genome Resources.


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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 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            X-linked monogenic disease 1032
              Thrombocytopenia 1 2
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Hemic and Lymphatic Diseases 2070
        hematopoietic system disease 1652
          blood coagulation disease 626
            hemorrhagic disease 616
              blood platelet disease 311
                thrombocytopenia 254
                  Thrombocytopenia 1 2
paths to the root