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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


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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Diseases of the Aged 1474
      osteoporosis 330
        hypophosphatemic nephrolithiasis/osteoporosis 4
          hypophosphatemic nephrolithiasis/osteoporosis 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      musculoskeletal system disease 8304
        connective tissue disease 5786
          bone disease 4302
            bone remodeling disease 495
              bone resorption disease 375
                osteoporosis 330
                  hypophosphatemic nephrolithiasis/osteoporosis 4
                    hypophosphatemic nephrolithiasis/osteoporosis 2 1
paths to the root