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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:renal hypomagnesemia 3
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Accession:DOID:0060880 term browser browse the term
Definition:A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. (DO)
Synonyms:exact_synonym: FHHNC without severe ocular involvement;   HOMG3;   familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement;   primary hypomagnesemia due to defect in renal tubular transport of magnesium;   renal hypomagnesemia type 3
 related_synonym: renal hypomagnesemia, recessive
 primary_id: OMIM:248250
 xref: ORDO:31043
For additional species annotation, visit the Alliance of Genome Resources.



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renal hypomagnesemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN16 claudin 16 ISO OMIM NCBI chr34:22,392,108...22,414,250
Ensembl chr34:22,317,474...22,412,665
JBrowse link
G CLDN19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr15:626,721...631,643
Ensembl chr15:627,035...631,789
JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14802
    Nutritional and Metabolic Diseases 5731
      nutrition disease 845
        Malnutrition 296
          nutritional deficiency disease 285
            primary hypomagnesemia 7
              renal hypomagnesemia 3 3
Path 2
Term Annotations click to browse term
  disease 14802
    Nutritional and Metabolic Diseases 5731
      disease of metabolism 5731
        acquired metabolic disease 1930
          nutrition disease 845
            Malnutrition 296
              nutritional deficiency disease 285
                primary hypomagnesemia 7
                  renal hypomagnesemia 3 3
paths to the root