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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:hypophosphatemic nephrolithiasis/osteoporosis
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Accession:DOID:0080655 term browser browse the term
Definition:A kidney disease that is characterized by formation of renal calcium\nstones or bone demineralization. (DO)
Synonyms:xref: OMIM:PS612286
For additional species annotation, visit the Alliance of Genome Resources.


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hypophosphatemic nephrolithiasis/osteoporosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII IAGP ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chr 5:177,402,138...177,409,564
Ensembl chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,141...177,409,564
JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F12 coagulation factor XII IAGP ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar PMID:28492532 NCBI chr 5:177,402,138...177,409,564
Ensembl chr 5:177,402,141...177,409,564
Ensembl chr 5:177,402,141...177,409,564
JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar
OMIM
PMID:12324554 PMID:16688119 PMID:24033266 PMID:25082825 PMID:25741868 PMID:26047794 PMID:26272126 PMID:27378183 PMID:28492532 PMID:28893421 NCBI chr 5:177,384,434...177,412,021
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC9A3R1 SLC9A3 regulator 1 IAGP ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 2 ClinVar
OMIM
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 NCBI chr17:74,748,628...74,769,353
Ensembl chr17:74,748,628...74,769,353
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19895
    Diseases of the Aged 1162
      osteoporosis 144
        hypophosphatemic nephrolithiasis/osteoporosis 3
          hypophosphatemic nephrolithiasis/osteoporosis 1 2
          hypophosphatemic nephrolithiasis/osteoporosis 2 1
Path 2
Term Annotations click to browse term
  disease 19895
    disease of anatomical entity 18508
      musculoskeletal system disease 6688
        connective tissue disease 4545
          bone disease 3070
            bone remodeling disease 249
              bone resorption disease 169
                osteoporosis 144
                  hypophosphatemic nephrolithiasis/osteoporosis 3
                    hypophosphatemic nephrolithiasis/osteoporosis 1 2
                    hypophosphatemic nephrolithiasis/osteoporosis 2 1
paths to the root