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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 6
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Accession:DOID:0060884 term browser browse the term
Definition:A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: HOMG6
 broad_synonym: renal hypomagnesemia, dominant
 primary_id: OMIM:613882
 xref: GARD:12155;   ICD10CM:E83.4
For additional species annotation, visit the Alliance of Genome Resources.


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renal hypomagnesemia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 6 OMIM
ClinVar		 PMID:21397062 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        inherited metabolic disorder 4671
          renal tubular transport disease 98
            renal hypomagnesemia 6 1
Path 2
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        acquired metabolic disease 2150
          nutrition disease 1044
            Malnutrition 313
              nutritional deficiency disease 302
                primary hypomagnesemia 7
                  renal hypomagnesemia 6 1
paths to the root