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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 OMIM:612287
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 2
OMIM
ClinVar
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 NCBI chr10:103,713,045...103,730,145
Ensembl chr10:103,713,045...103,730,145
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Diseases of the Aged 1243
      osteoporosis 325
        hypophosphatemic nephrolithiasis/osteoporosis 3
          hypophosphatemic nephrolithiasis/osteoporosis 2 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        connective tissue disease 3631
          bone disease 2988
            bone remodeling disease 425
              bone resorption disease 350
                osteoporosis 325
                  hypophosphatemic nephrolithiasis/osteoporosis 3
                    hypophosphatemic nephrolithiasis/osteoporosis 2 1
paths to the root