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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:primary hypomagnesemia
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Accession:DOID:0060879 term browser browse the term
Definition:A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. (DO)
Synonyms:exact_synonym: HOMG;   familial hypomagnesemia with hypercalciuria and nephrocalcinosis;   magnesium deficiencies;   magnesium deficiency;   primary familial hypomagnesemia
 narrow_synonym: HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING;   defect in renal tubular transport of magnesium;   isolated renal hypomagnesemia;   primary hypomagnesemia due to defect in renal tubular transport of magnesium
 broad_synonym: hypomagnesemia
 primary_id: MESH:D008275
 alt_id: MESH:C537153
 xref: OMIM:PS602014;   ORDO:34526
For additional species annotation, visit the Alliance of Genome Resources.


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primary hypomagnesemia 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: Primary hypomagnesemia ClinVar PMID:668721 PMID:10390358 PMID:10878661 PMID:11518780 PMID:15856319 More... NCBI chrNW_004955420:17,684,752...17,714,639
Ensembl chrNW_004955420:17,693,573...17,715,211
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia ClinVar NCBI chrNW_004955485:7,399,085...7,546,176
Ensembl chrNW_004955485:7,403,549...7,545,987
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:17671655 RGD:6906911 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062458 NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159
JBrowse link
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 chrNW_004955512:4,179,194...4,323,523
Ensembl chrNW_004955512:4,179,651...4,321,902
JBrowse link
G Trpm7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chrNW_004955409:3,690,722...3,787,139
Ensembl chrNW_004955409:3,691,039...3,785,908
JBrowse link
renal hypomagnesemia 2 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, Dominant ClinVar NCBI chrNW_004955485:7,399,085...7,546,176
Ensembl chrNW_004955485:7,403,549...7,545,987
JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant | ClinVar Annotator: match by term: Renal hypomagnesemia 2 OMIM
ClinVar
PMID:3298795 PMID:11929868 PMID:25765846 PMID:28492532 NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159
JBrowse link
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 chrNW_004955420:17,684,752...17,714,639
Ensembl chrNW_004955420:17,693,573...17,715,211
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chrNW_004955537:2,265,711...2,271,096
Ensembl chrNW_004955537:2,265,711...2,271,289
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
JBrowse link
renal hypomagnesemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chrNW_004955537:2,265,711...2,271,096
Ensembl chrNW_004955537:2,265,711...2,271,289
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 4 OMIM
ClinVar
PMID:17671655 PMID:25741868 PMID:28492532 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
JBrowse link
renal hypomagnesemia 5 with ocular involvement 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: Renal hypomagnesemia 5 with ocular involvement ClinVar NCBI chrNW_004955420:17,684,752...17,714,639
Ensembl chrNW_004955420:17,693,573...17,715,211
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement OMIM
ClinVar
PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chrNW_004955537:2,265,711...2,271,096
Ensembl chrNW_004955537:2,265,711...2,271,289
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569
JBrowse link
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 chrNW_004955485:7,399,085...7,546,176
Ensembl chrNW_004955485:7,403,549...7,545,987
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13423
    Nutritional and Metabolic Diseases 5299
      nutrition disease 770
        Malnutrition 272
          nutritional deficiency disease 263
            primary hypomagnesemia 7
              Manz Syndrome 0
              intestinal hypomagnesemia 1 2
              renal hypomagnesemia 2 2
              renal hypomagnesemia 3 3
              renal hypomagnesemia 4 2
              renal hypomagnesemia 5 with ocular involvement 3
              renal hypomagnesemia 6 1
Path 2
Term Annotations click to browse term
  disease 13423
    Nutritional and Metabolic Diseases 5299
      disease of metabolism 5299
        acquired metabolic disease 1735
          nutrition disease 770
            Malnutrition 272
              nutritional deficiency disease 263
                primary hypomagnesemia 7
                  Manz Syndrome 0
                  intestinal hypomagnesemia 1 2
                  renal hypomagnesemia 2 2
                  renal hypomagnesemia 3 3
                  renal hypomagnesemia 4 2
                  renal hypomagnesemia 5 with ocular involvement 3
                  renal hypomagnesemia 6 1
paths to the root