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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: OMIM: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 chr15:92,233,264...92,332,459
Ensembl chr15:92,233,841...92,332,386 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      immune system disease 4289
        fetal erythroblastosis 61
          Hydrops Fetalis 57
            Lymphatic Malformation 8 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Hemic and Lymphatic Diseases 3610
        hematopoietic system disease 3134
          anemia 737
            normocytic anemia 397
              hemolytic anemia 397
                congenital hemolytic anemia 331
                  hemoglobinopathy 224
                    thalassemia 192
                      alpha thalassemia 70
                        Hydrops Fetalis 57
                          Lymphatic Malformation 8 1
paths to the root