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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 nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)
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
 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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:668721, PMID:10390358, PMID:10878661, PMID:11518780, PMID:15856319, PMID:16234325, PMID:16501001, PMID:16705067, PMID:20607983, PMID:24033266, PMID:25477417, PMID:25741868, PMID:26426912, PMID:28492532, PMID:28893421, PMID:32860008 NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
G Egf epidermal growth factor ISO RGD PMID:17671655 RGD:6906911 NCBI chr 2:68,820,616...68,895,537 JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062458 NCBI chr 8:49,710,334...49,717,492
Ensembl chr 8:49,710,477...49,716,955
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: Hypomagnesemia 1, intestinal
ClinVar Annotator: match by OMIM:602014
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9285786, PMID:12032568, PMID:12032570, PMID:14976260, PMID:16107578, PMID:23942199, PMID:24985022, PMID:25741868, PMID:26813946, PMID:28492532 NCBI chr 1:234,478,908...234,631,264
Ensembl chr 1:234,479,289...234,596,971
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal ClinVar NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
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 chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO DNA:missense mutation:cds:p.G41R (human)
ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant
ClinVar Annotator: match by OMIM:154020
ClinVar
OMIM
PMID:3298795, PMID:11929868, PMID:25765846, PMID:28492532, PMID:11062458 RGD:1598986 NCBI chr 8:49,710,334...49,717,492
Ensembl chr 8:49,710,477...49,716,955
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 chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 2:68,820,616...68,895,537 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 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by term: Hypomagnesemia 4, renal
OMIM
ClinVar
PMID:16788380, PMID:17671655, PMID:18349392, PMID:21673069, PMID:22992668, PMID:23959273, PMID:27897268, PMID:28492532 NCBI chr 2:68,820,616...68,895,537 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: Hypomagnesemia 5, renal, with ocular involvement ClinVar NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement
ClinVar Annotator: match by OMIM:248190
OMIM
ClinVar
PMID:17033971, PMID:18188451, PMID:22422540, PMID:27530400, PMID:28492532 NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 2:68,820,616...68,895,537 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: Hypomagnesemia 6, renal
ClinVar Annotator: match by OMIM:613882
OMIM
ClinVar
PMID:21397062, PMID:28492532, PMID:30311386 NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      nutrition disease 921
        Malnutrition 201
          nutritional deficiency disease 193
            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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        acquired metabolic disease 2786
          nutrition disease 921
            Malnutrition 201
              nutritional deficiency disease 193
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.