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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:Distal Renal Tubular Acidosis 4 with Hemolytic Anemia
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Accession:DOID:9007818 term browser browse the term
Synonyms:exact_synonym: DRTA4
 narrow_synonym: distal renal tubular acidosis with normal red cell morphology
 related_synonym: distal RTA, autosomal recessive, with hemolytic anemia
 primary_id: MESH:C566910
 alt_id: OMIM:611590
For additional species annotation, visit the Alliance of Genome Resources.


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Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA
ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia
ClinVar Annotator: match by OMIM:611590
OMIM
ClinVar
PMID:9207478, PMID:9312167, PMID:9854053, PMID:10926824, PMID:10942416, PMID:12087557, PMID:12938018, PMID:15211439, PMID:22126643, PMID:25741868 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar PMID:30028003 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      hematopoietic system disease 1653
        anemia 417
          hemolytic anemia 182
            Distal Renal Tubular Acidosis 4 with Hemolytic Anemia 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            renal tubular transport disease 93
              renal tubular acidosis 9
                Distal Renal Tubular Acidosis 5
                  Distal Renal Tubular Acidosis 4 with Hemolytic Anemia 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.