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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;   RDO:0001224
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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:30,361,967...30,395,264
Ensembl chr  X:30,361,967...30,395,349
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 chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
JBrowse link
G Cep89 centrosomal protein 89 ISO ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr 1:88,058,211...88,100,114
Ensembl chr 1:88,058,227...88,100,112
JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cystinuria
ClinVar PMID:7573036 PMID:8054986 PMID:8792820 PMID:9768685 PMID:10620184 More... NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
JBrowse link
G Slc3a1 solute carrier family 3 member 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by OMIM:220100
ClinVar
OMIM
RGD
PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... RGD:1600015 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO DNA:missense mutations, nonsense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: Cystine urolithiasis
ClinVar Annotator: match by OMIM:220100
ClinVar
OMIM
RGD
PMID:6031738 PMID:9536098 PMID:10471498 PMID:11013083 PMID:11157794 More... RGD:737767 NCBI chr 1:88,109,517...88,132,653
Ensembl chr 1:88,110,644...88,132,641
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 ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria
ClinVar Annotator: match by term: Dicarboxylicaminoaciduria
OMIM
ClinVar
PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:226,549,932...226,631,925
Ensembl chr 1:226,549,842...226,630,402
JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Dicarboxylic aminoaciduria ClinVar PMID:21123949 PMID:25741868 PMID:28492532 NCBI chr 1:226,630,470...226,682,979
Ensembl chr 1:226,641,518...226,682,884
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
ClinVar Annotator: match by OMIM:603358
OMIM
ClinVar
PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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 susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Neutral 1 amino acid transport defect
ClinVar Annotator: match by term: Hartnup disease
ClinVar Annotator: match by OMIM:234500
ClinVar
OMIM
RGD
PMID:15286787 PMID:15286788 PMID:17555458 PMID:18484095 PMID:19185582 More... RGD:1600035 NCBI chr 1:29,586,205...29,604,960
Ensembl chr 1:29,586,195...29,604,962
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 CTD PMID:26247364 NCBI chr 6:9,198,945...9,580,200
Ensembl chr 6:9,198,947...9,580,242
JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,646,695...9,707,471
Ensembl chr 6:9,655,765...9,707,974
JBrowse link
G Prepl prolyl endopeptidase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,580,367...9,609,957
Ensembl chr 6:9,580,217...9,607,772
JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26247364 NCBI chr 6:9,608,169...9,641,881
Ensembl chr 6:9,608,178...9,641,907
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          renal tubular transport disease 93
            Renal Aminoacidurias 12
              GRACILE syndrome 1
              Hartnup disease 1
              Histidinuria, Renal Tubular Defect 0
              Rowley-Rosenberg Syndrome 0
              cystinuria + 7
              dicarboxylic aminoaciduria 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        urinary system disease 2155
          kidney disease 1936
            renal tubular transport disease 93
              Renal Aminoacidurias 12
                GRACILE syndrome 1
                Hartnup disease 1
                Histidinuria, Renal Tubular Defect 0
                Rowley-Rosenberg Syndrome 0
                cystinuria + 7
                dicarboxylic aminoaciduria 2
paths to the root