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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 syndrome
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Accession:DOID:0112251 term browser browse the term
Definition:A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. (DO)
Synonyms:exact_synonym: GHDD;   Ghosal Hematodiaphyseal Dysplasia;   Ghosal Syndrome;   diaphyseal dysplasia-anemia syndrome
 primary_id: MESH:C565551
 alt_id: DOID:9003776;   OMIM:231095
 xref: GARD:10297;   ORDO:1802
For additional species annotation, visit the Alliance of Genome Resources.


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Ghosal hematodiaphyseal syndrome 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 16937
    syndrome 7656
      Ghosal hematodiaphyseal syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      Hemic and Lymphatic Diseases 2177
        hematopoietic system disease 1760
          Hematologic Neoplasms 849
            Bone Marrow Neoplasms 352
              bone marrow cancer 352
                myelodysplastic syndrome 117
                  Refractory Anemia 31
                    Ghosal hematodiaphyseal syndrome 1
paths to the root