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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 2
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Accession:DOID:0080078 term browser browse the term
Definition:A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: NPHLOP2
 primary_id: MESH:C567362
 alt_id: OMIM:612287
For additional species annotation, visit the Alliance of Genome Resources.



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hypophosphatemic nephrolithiasis/osteoporosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a3r1 SLC9A3 regulator 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 2 OMIM
ClinVar
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Diseases of the Aged 1292
      osteoporosis 326
        hypophosphatemic nephrolithiasis/osteoporosis 3
          hypophosphatemic nephrolithiasis/osteoporosis 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone remodeling disease 437
              bone resorption disease 352
                osteoporosis 326
                  hypophosphatemic nephrolithiasis/osteoporosis 3
                    hypophosphatemic nephrolithiasis/osteoporosis 2 1
paths to the root