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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:Renal Aminoacidurias
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Accession:DOID:9002207 term browser browse the term
Definition:A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.
Synonyms:exact_synonym: AMINOACIDURIA;   Renal Aminoaciduria
 primary_id: MESH:D000608
 xref: EFO:1001149


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Renal Aminoacidurias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLTRN collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Aminoaciduria ClinVar NCBI chr  X:12,183,793...12,215,474
Ensembl chr  X:12,183,796...12,224,964 		JBrowse link
cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPF centromere protein F ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chr 9:128,948,386...129,012,241
Ensembl chr 9:128,948,498...129,012,218 		JBrowse link
G CEP89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 6:42,733,675...42,815,286
Ensembl chr 6:42,735,666...42,815,281 		JBrowse link
G PREPL prolyl endopeptidase like ISO ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 PMID:9768685 More... NCBI chr 3:96,092,314...96,159,533
Ensembl chr 3:96,092,334...96,159,525 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 susceptibility ISO ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I
DNA:missense mutations		 OMIM
ClinVar
RGD		 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chr 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 ISO ClinVar Annotator: match by term: Cystine urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC7A9-related condition OMIM
ClinVar		 PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... NCBI chr 6:42,664,795...42,706,113
Ensembl chr 6:42,669,093...42,714,267 		JBrowse link
dicarboxylic aminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A1 solute carrier family 1 member 1 susceptibility ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria | ClinVar Annotator: match by term: Glutamate-aspartate transport defect ClinVar
OMIM		 PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:217,366,493...217,441,643
Ensembl chr 1:217,366,499...217,441,674 		JBrowse link
GRACILE syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: GRACILE syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr15:120,707,770...120,711,794
Ensembl chr15:120,707,814...120,711,793 		JBrowse link
Hartnup disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC6A19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Hartnup disorder | ClinVar Annotator: match by term: Neutral 1 amino acid transport defect OMIM
ClinVar		 PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 PMID:18484095 More... NCBI chr16:79,293,940...79,310,922
Ensembl chr16:79,293,943...79,310,922 		JBrowse link
hypotonia-cystinuria syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMKMT calmodulin-lysine N-methyltransferase ISO CTD Direct Evidence: marker/mechanism
OMIM:606407		 CTD
MouseDO		 PMID:26247364 NCBI chr 3:95,688,400...96,092,028
Ensembl chr 3:95,688,405...96,092,078 		JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 3:96,237,660...96,317,278
Ensembl chr 3:96,221,873...96,317,247 		JBrowse link
G PREPL prolyl endopeptidase like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 3:96,092,314...96,159,533
Ensembl chr 3:96,092,334...96,159,525 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 3:96,157,387...96,201,057
Ensembl chr 3:96,157,380...96,215,454 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Nutritional and Metabolic Diseases 7079
      disease of metabolism 7079
        inherited metabolic disorder 5434
          renal tubular transport disease 126
            Renal Aminoacidurias 11
              GRACILE syndrome 1
              Hartnup disease 1
              Histidinuria, Renal Tubular Defect 0
              Rowley-Rosenberg Syndrome 0
              cystinuria + 7
              dicarboxylic aminoaciduria 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Urogenital Diseases 4676
        urinary system disease 2376
          kidney disease 2144
            renal tubular transport disease 126
              Renal Aminoacidurias 11
                GRACILE syndrome 1
                Hartnup disease 1
                Histidinuria, Renal Tubular Defect 0
                Rowley-Rosenberg Syndrome 0
                cystinuria + 7
                dicarboxylic aminoaciduria 1
paths to the root