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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:Ghosal Hematodiaphyseal Dysplasia
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Accession:DOID:9003776 term browser browse the term
Synonyms:exact_synonym: GHDD;   Ghosal Syndrome;   Ghosal hematodiaphyseal syndrome
 primary_id: MESH:C565551
 alt_id: OMIM:231095
For additional species annotation, visit the Alliance of Genome Resources.


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Ghosal Hematodiaphyseal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1 ISO ClinVar Annotator: match by OMIM:231095
ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome
ClinVar Annotator: match by term: Ghosal syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17203301, PMID:18264100, PMID:25741868 NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Ghosal Hematodiaphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          bone marrow disease 473
            Bone Marrow Neoplasms 347
              bone marrow cancer 347
                myelodysplastic syndrome 110
                  Refractory Anemia 27
                    Ghosal Hematodiaphyseal Dysplasia 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.