Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 chr 3:187,141,710...187,436,909
Ensembl chr 3:195,964,178...195,990,065
JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hypomagnesemia ClinVar NCBI chr10:99,519,187...99,687,138
Ensembl chr10:102,982,148...103,137,580
JBrowse link
G EGF epidermal growth factor ISO RGD PMID:17671655 RGD:6906911 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
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 chr 9:49,949,883...50,114,169
Ensembl chr 9:73,576,594...73,742,195
JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr15:29,513,220...29,639,506
Ensembl chr15:47,853,187...47,977,451
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 chr10:99,519,187...99,687,138
Ensembl chr10:102,982,148...103,137,580
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 chr 3:187,141,710...187,436,909
Ensembl chr 3:195,964,178...195,990,065
JBrowse link
G CLDN19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 1:42,032,999...42,040,006
Ensembl chr 1:43,408,876...43,417,448
JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
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 chr 1:42,032,999...42,040,006
Ensembl chr 1:43,408,876...43,417,448
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 chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
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 chr 3:187,141,710...187,436,909
Ensembl chr 3:195,964,178...195,990,065
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 chr 1:42,032,999...42,040,006
Ensembl chr 1:43,408,876...43,417,448
JBrowse link
G EGF epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460
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 chr10:99,519,187...99,687,138
Ensembl chr10:102,982,148...103,137,580
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14616
    Nutritional and Metabolic Diseases 5567
      nutrition disease 821
        Malnutrition 296
          nutritional deficiency disease 287
            primary hypomagnesemia 6
              Manz Syndrome 0
              intestinal hypomagnesemia 1 2
              renal hypomagnesemia 2 1
              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 14616
    Nutritional and Metabolic Diseases 5567
      disease of metabolism 5567
        acquired metabolic disease 1835
          nutrition disease 821
            Malnutrition 296
              nutritional deficiency disease 287
                primary hypomagnesemia 6
                  Manz Syndrome 0
                  intestinal hypomagnesemia 1 2
                  renal hypomagnesemia 2 1
                  renal hypomagnesemia 3 3
                  renal hypomagnesemia 4 2
                  renal hypomagnesemia 5 with ocular involvement 3
                  renal hypomagnesemia 6 1
paths to the root