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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


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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 Ccbe1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia		 CTD
ClinVar		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 PMID:30028003 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      hematopoietic system disease 3344
        anemia 778
          normocytic anemia 416
            hemolytic anemia 416
              Distal Renal Tubular Acidosis 4 with Hemolytic Anemia 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Urogenital Diseases 5216
        urinary system disease 2823
          kidney disease 2579
            renal tubular transport disease 134
              renal tubular acidosis 12
                Distal Renal Tubular Acidosis 8
                  Distal Renal Tubular Acidosis 4 with Hemolytic Anemia 3
paths to the root