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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: MIM:PS612286

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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 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chrNW_004955408:29,644,279...29,665,161
Ensembl chrNW_004955408:29,642,096...29,650,950 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic ClinVar PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chrNW_004955408:29,626,775...29,640,811
Ensembl chrNW_004955408:29,626,775...29,640,875 		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 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683 NCBI chrNW_004955408:29,644,279...29,665,161
Ensembl chrNW_004955408:29,642,096...29,650,950 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 OMIM
ClinVar		 PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 More... NCBI chrNW_004955408:29,626,775...29,640,811
Ensembl chrNW_004955408:29,626,775...29,640,875 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 ClinVar PMID:25741868 PMID:28492532 PMID:31672324 NCBI chrNW_004955513:5,228,575...5,233,501
Ensembl chrNW_004955513:5,228,598...5,234,128 		JBrowse link
hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nherf1 NHERF family PDZ scaffold protein 1 ISO ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 | ClinVar Annotator: match by term: NHERF1-related condition OMIM
ClinVar		 PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955553:1,639,267...1,656,850
Ensembl chrNW_004955553:1,639,267...1,656,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    Diseases of the Aged 1165
      osteoporosis 135
        hypophosphatemic nephrolithiasis/osteoporosis 4
          hypophosphatemic nephrolithiasis/osteoporosis 1 3
          hypophosphatemic nephrolithiasis/osteoporosis 2 1
Path 2
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      musculoskeletal system disease 7418
        connective tissue disease 5060
          bone disease 3679
            bone remodeling disease 294
              bone resorption disease 174
                osteoporosis 135
                  hypophosphatemic nephrolithiasis/osteoporosis 4
                    hypophosphatemic nephrolithiasis/osteoporosis 1 3
                    hypophosphatemic nephrolithiasis/osteoporosis 2 1
paths to the root