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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      myelodysplastic syndrome 240
        Refractory Anemia 32
          sideroblastic anemia 21
            HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          anemia 637
            normocytic anemia 223
              hemolytic anemia 223
                congenital hemolytic anemia 176
                  hemoglobinopathy 133
                    thalassemia 102
                      alpha thalassemia 69
                        Hydrops Fetalis 58
                          HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
paths to the root