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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 10
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Accession:DOID:9008451 term browser browse the term
Definition:An autosomal recessive disorder characterized by decreased numbers of platelets apparent from birth or early childhood. Caused by compound heterozygous mutation in the PTPRJ gene on chromosome 11p11.
Synonyms:exact_synonym: THC10;   Thrombocytopenia, autosomal recessive, 10
 broad_synonym: PTPRJ-RELATED CONDITION
 xref: MIM:620484;   MONDO:0957578



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Thrombocytopenia 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprj protein tyrosine phosphatase, receptor type, J ISO ClinVar Annotator: match by term: Thrombocytopenia 10 OMIM
ClinVar
PMID:30591527 NCBI chr 3:96,861,785...97,017,702 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      hematopoietic system disease 3836
        blood coagulation disease 1446
          hemorrhagic disease 1400
            blood platelet disease 454
              thrombocytopenia 328
                Thrombocytopenia 10 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      Hemic and Lymphatic Diseases 4327
        hematopoietic system disease 3836
          blood coagulation disease 1446
            hemorrhagic disease 1400
              blood platelet disease 454
                thrombocytopenia 328
                  Thrombocytopenia 10 1
paths to the root