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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:Lymphatic Malformation 8
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Accession:DOID:9006957 term browser browse the term
Synonyms:exact_synonym: LMPHM8
 primary_id: MIM:618773


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Lymphatic Malformation 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calcrl calcitonin receptor like receptor ISO ClinVar Annotator: match by term: Lymphatic malformation 8 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Pathological Conditions, Signs and Symptoms 13607
      Signs and Symptoms 11167
        Edema 136
          Hydrops Fetalis 60
            Lymphatic Malformation 8 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      Hemic and Lymphatic Diseases 4331
        hematopoietic system disease 3821
          anemia 861
            normocytic anemia 752
              hemolytic anemia 431
                congenital hemolytic anemia 364
                  hemoglobinopathy 248
                    thalassemia 216
                      alpha thalassemia 77
                        Hydrops Fetalis 60
                          Lymphatic Malformation 8 1
paths to the root