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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 11
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Accession:DOID:9007648 term browser browse the term
Definition:A syndromic disorder characterized by dysmorphic facial features, multiple congenital anomalies that may involve the heart, brain, genitourinary, endocrine, and/or skeletal systems, chronic and persistent thrombocytopenia, sometimes with leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. Caused by heterozygous mutation in the RAP1B gene on chromosome 12q14.
Synonyms:exact_synonym: THC11;   Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
 primary_id: MIM:620654


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Thrombocytopenia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rap1b RAP1B, member of RAS oncogene family ISO ClinVar Annotator: match by term: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies OMIM
ClinVar		 PMID:12213964 PMID:25741868 PMID:25935485 PMID:29235861 PMID:32627184 More... NCBI chr 7:53,423,039...53,456,349
Ensembl chr 7:53,423,130...53,456,370 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Multiple Abnormalities 3835
            Thrombocytopenia 11 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Hemic and Lymphatic Diseases 4331
        hematopoietic system disease 3821
          blood coagulation disease 1442
            hemorrhagic disease 1396
              blood platelet disease 450
                thrombocytopenia 327
                  Thrombocytopenia 11 1
paths to the root