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
Accession: DOID:0080655
browse the term
Definition: A kidney disease that is characterized by formation of renal calcium stones or bone demineralization. (DO)
Synonyms: xref: MIM:PS612286
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar
PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683
NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar
PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
ClinVar
PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683
NCBI chr17:9,212,819...9,220,664
Ensembl chr17:9,207,683...9,215,530
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
OMIM ClinVar
PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 PMID:17576681 PMID:21597970 PMID:24033266 PMID:25050900 PMID:25082825 PMID:25296721 PMID:25741868 PMID:26047794 PMID:26272126 PMID:26787776 PMID:27378183 PMID:28492532 PMID:28893421 PMID:29924459 PMID:29959532 PMID:30778725 PMID:30943683 PMID:31188746 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852
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Slc34a3
solute carrier family 34 member 3
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31672324
NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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Nherf1
NHERF family PDZ scaffold protein 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 | ClinVar Annotator: match by term: NHERF1-related condition
OMIM ClinVar
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 PMID:30863428 More...
NCBI chr10:100,902,165...100,919,265
Ensembl chr10:100,403,069...100,420,598
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