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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


show annotations for term's descendants           Sort by:
renal hypomagnesemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN16 claudin 16 ISO ClinVar Annotator: match by term: HYPOMAGNESEMIA 3, RENAL OMIM
ClinVar		 PMID:25741868 PMID:28492532 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:25741868 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 17774
    Nutritional and Metabolic Diseases 7181
      nutrition disease 884
        Malnutrition 324
          nutritional deficiency disease 309
            primary hypomagnesemia 8
              renal hypomagnesemia 3 3
Path 2
Term Annotations click to browse term
  disease 17774
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        acquired metabolic disease 2301
          nutrition disease 884
            Malnutrition 324
              nutritional deficiency disease 309
                primary hypomagnesemia 8
                  renal hypomagnesemia 3 3
paths to the root