Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


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 Slc36a2 solute carrier family 36 member 2 ISO ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II
ClinVar Annotator: match by term: Hyperglycinuria
ClinVar Annotator: match by OMIM:138500
OMIM
ClinVar
PMID:19033659, PMID:28492532 NCBI chr10:40,497,184...40,525,033
Ensembl chr10:40,496,622...40,525,008
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by OMIM:138500
ClinVar Annotator: match by term: Hyperglycinuria
OMIM
ClinVar
PMID:15286788, PMID:17555458, PMID:18484095, PMID:19033659, PMID:19185582, PMID:24033266, PMID:25741868 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
G Slc6a20 solute carrier family 6 member 20 ISO ClinVar Annotator: match by term: IMINOGLYCINURIA TYPE II
ClinVar Annotator: match by term: Hyperglycinuria
ClinVar Annotator: match by OMIM:138500
OMIM
ClinVar
PMID:19033659, PMID:28492532 NCBI chr 8:132,713,013...132,753,145
Ensembl chr 8:132,665,927...132,753,292
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        urinary system disease 2075
          urolithiasis 61
            Glycinuria with or without Oxalate Urolithiasis 3
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
            amino acid metabolic disorder 433
              Glycinuria with or without Oxalate Urolithiasis 3
paths to the root

NHLBI Logo

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