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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:Glycinuria with or without Oxalate Urolithiasis
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Accession:DOID:9008487 term browser browse the term
Synonyms:exact_synonym: GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS;   IMINOGLYCINURIA TYPE II;   hyperglycinuria
 primary_id: MESH:C563009;   OMIM:138500;   RDO:0007995
 alt_id: RDO:0012472



show annotations for term's descendants           Sort by:
Glycinuria with or without Oxalate Urolithiasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc36a1 solute carrier family 36 member 1 ISO ClinVar Annotator: match by term: Hyperglycinuria ClinVar PMID:19033659 NCBI chr10:39,319,062...39,357,374
Ensembl chr10:39,324,337...39,354,217
JBrowse link
G Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: Hyperglycinuria
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19033659 PMID:25741868 PMID:28492532 NCBI chr10:39,278,002...39,306,082
Ensembl chr10:39,278,046...39,306,082
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Hyperglycinuria | ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II ClinVar PMID:9536098 PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 More... NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962
JBrowse link
G Slc6a20a solute carrier family 6 member 20a ISO ClinVar Annotator: match by term: Hyperglycinuria ClinVar PMID:19033659 PMID:25741868 PMID:28492532 NCBI chr 8:123,282,325...123,322,609
Ensembl chr 8:123,281,472...123,322,573
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      Urogenital Diseases 5192
        urinary system disease 2800
          urolithiasis 74
            Glycinuria with or without Oxalate Urolithiasis 4
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          inherited metabolic disorder 6208
            amino acid metabolic disorder 1524
              Glycinuria with or without Oxalate Urolithiasis 4
paths to the root