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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: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar PMID:28492532 NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1
ClinVar Annotator: match by OMIM:612286
OMIM
ClinVar
PMID:12324554 PMID:16688119 PMID:24033266 PMID:25082825 PMID:25741868 PMID:26047794 PMID:26272126 PMID:27378183 PMID:28492532 PMID:28893421 NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Diseases of the Aged 1245
      osteoporosis 325
        hypophosphatemic nephrolithiasis/osteoporosis 3
          hypophosphatemic nephrolithiasis/osteoporosis 1 2
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        connective tissue disease 3641
          bone disease 2998
            bone remodeling disease 431
              bone resorption disease 350
                osteoporosis 325
                  hypophosphatemic nephrolithiasis/osteoporosis 3
                    hypophosphatemic nephrolithiasis/osteoporosis 1 2
paths to the root