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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:intestinal hypomagnesemia 1
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Accession:DOID:0060883 term browser browse the term
Definition:A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. (DO)
Synonyms:exact_synonym: HOMG1;   HSH;   HYPOMAGNESEMIC TETANY;   Hypomagnesemia with Secondary Hypocalcemia;   hypomagnesemia caused by selective magnesium malabsorption;   hypomagnesemia intestinal type 1;   intestinal hypomagnesemia with secondary hypocalcemia;   primary hypomagnesemia with secondary hypocalcemia
 primary_id: MESH:C566593
 alt_id: OMIM:602014
 xref: ORDO:30924
For additional species annotation, visit the Alliance of Genome Resources.



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intestinal hypomagnesemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 OMIM
ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        Water-Electrolyte Imbalance 68
          Hypocalcemia 13
            intestinal hypomagnesemia 1 2
Path 2
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        acquired metabolic disease 2146
          nutrition disease 1041
            Malnutrition 310
              nutritional deficiency disease 301
                primary hypomagnesemia 7
                  intestinal hypomagnesemia 1 2
paths to the root