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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:HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
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Accession:DOID:9002027 term browser browse the term
Synonyms:exact_synonym: HLASA
 primary_id: OMIM:617021


show annotations for term's descendants           Sort by:
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      immune system disease 4471
        hemolytic disease of the fetus 65
          Hydrops Fetalis 59
            HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
Path 2
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      Hemic and Lymphatic Diseases 3776
        hematopoietic system disease 3274
          anemia 790
            normocytic anemia 687
              hemolytic anemia 431
                congenital hemolytic anemia 360
                  hemoglobinopathy 252
                    thalassemia 219
                      alpha thalassemia 72
                        Hydrops Fetalis 59
                          HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
paths to the root