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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:platelet-type bleeding disorder 18
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Accession:DOID:0111051 term browser browse the term
Definition:A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: BDPLT18;   bleeding disorder due to CalDAG-GEFI deficiency;   bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
 primary_id: OMIM:615888
 alt_id: RDO:9001378
 xref: ORDO:420566
For additional species annotation, visit the Alliance of Genome Resources.


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platelet-type bleeding disorder 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Platelet-type bleeding disorder 18 ClinVar
OMIM
PMID:24958846, PMID:25741868, PMID:31064749, PMID:32581362 NCBI chr 1:221,771,238...221,788,765
Ensembl chr 1:221,773,254...221,788,765
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Pathologic Processes 6127
        Hemorrhage 271
          platelet-type bleeding disorder 18 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                platelet-type bleeding disorder 18 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.