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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;   TBXAS1-RELATED CONDITION;   diaphyseal dysplasia-anemia syndrome
 primary_id: MESH:C565551
 alt_id: DOID:9003776;   OMIM:231095
 xref: GARD:10297;   ORDO:1802


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome | ClinVar Annotator: match by term: TBXAS1-related condition		 OMIM
CTD
ClinVar		 PMID:8702713 PMID:17203301 PMID:18264100 PMID:19114962 PMID:22735388 More... NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Ghosal hematodiaphyseal syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3850
        hematopoietic system disease 3340
          Hematologic Neoplasms 1052
            Bone Marrow Neoplasms 509
              bone marrow cancer 509
                myelodysplastic syndrome 243
                  Refractory Anemia 32
                    Ghosal hematodiaphyseal syndrome 1
paths to the root