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intestinal hypomagnesemia 1 - Ontology Report - Rat Genome Database

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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 absorption 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;   hypomagnesemia caused by selective magnesium malabsorption;   hypomagnesemia intestinal type 1;   hypomagnesemia with secondary hypocalcemia;   hypomagnesemic tetany;   intestinal hypomagnesemia with secondary hypocalcemia;   primary hypomagnesemia with secondary hypocalcemia
 broad_synonym: TRPM6-related condition
 xref: MESH:C566593;   MIM:602014;   MONDO:0011176;   ORDO:30924

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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: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 | ClinVar Annotator: match by term: TRPM6-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 1:225,559,528...225,747,106
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 3:134,499,617...134,588,113
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 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        Water-Electrolyte Imbalance 105
          Hypocalcemia 14
            intestinal hypomagnesemia 1 2
Path 2
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        acquired metabolic disease 2544
          nutrition disease 1036
            Malnutrition 284
              nutritional deficiency disease 264
                primary hypomagnesemia 8
                  intestinal hypomagnesemia 1 2
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