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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:Gorham's disease
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Accession:DOID:4837 term browser browse the term
Definition:A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. (DO)
Synonyms:exact_synonym: Disappearing Bone Disease;   GSD;   Gorham Disease;   Gorham-Stout Disease;   Idiopathic Multicentric Osteolyses;   Idiopathic Multicentric Osteolysis;   Massive Osteolyses;   diffuse cystic angiomatosis of bone;   essential osteolyses;   essential osteolysis;   massive osteolysis;   phantom bone disease
 related_synonym: Gorham-Stout Syndrome
 primary_id: MESH:D010015
 alt_id: OMIM:123880
 xref: GARD:6542
For additional species annotation, visit the Alliance of Genome Resources.


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Gorham's disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Gorham-Stout disease ClinVar PMID:25741868 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Gorham's disease 1
        Myeloid Splenomegaly 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone remodeling disease 495
              bone resorption disease 375
                Osteolysis 37
                  Gorham's disease 1
                    Myeloid Splenomegaly 0
paths to the root