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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 1
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Accession:DOID:0080077 term browser browse the term
Definition:A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: NPHLOP1
 primary_id: MESH:C567363
 alt_id: OMIM:612286
For additional species annotation, visit the Alliance of Genome Resources.



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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:28492532 PMID:30943683 NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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:16688119 PMID:17576681 PMID:24033266 More... NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Diseases of the Aged 1318
      osteoporosis 327
        hypophosphatemic nephrolithiasis/osteoporosis 3
          hypophosphatemic nephrolithiasis/osteoporosis 1 2
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        connective tissue disease 4899
          bone disease 3577
            bone remodeling disease 459
              bone resorption disease 353
                osteoporosis 327
                  hypophosphatemic nephrolithiasis/osteoporosis 3
                    hypophosphatemic nephrolithiasis/osteoporosis 1 2
paths to the root