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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.


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 IAGP
EXP		 ClinVar Annotator: match by term: Primary hypomagnesemia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:668721 PMID:10390358 PMID:10878661 PMID:11518780 PMID:15856319 More... NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138 		JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 IAGP ClinVar Annotator: match by term: Hypomagnesemia ClinVar NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222 		JBrowse link
G EGF epidermal growth factor IAGP
IEA		 MouseDO
RGD		 PMID:17671655 RGD:6906911 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11062458 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		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 IAGP ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal
ClinVar Annotator: match by term: Intestinal hypomagnesemia 1		 ClinVar
OMIM		 PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 9:74,722,495...74,887,921
Ensembl chr 9:74,722,495...74,888,094 		JBrowse link
G TRPM7 transient receptor potential cation channel subfamily M member 7 IAGP ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal ClinVar NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797 		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 IAGP ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant ClinVar NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 IAGP DNA:missense mutation:cds:p.G41R (human)
ClinVar Annotator: match by term: Hypomagnesemia 2, renal
ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant
ClinVar Annotator: match by term: Renal hypomagnesemia 2		 ClinVar
OMIM
RGD		 PMID:3298795 PMID:11929868 PMID:25765846 PMID:28492532 PMID:11062458 RGD:1598986 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		JBrowse link
G FXYD6-FXYD2 FXYD6-FXYD2 readthrough IAGP ClinVar Annotator: match by term: Hypomagnesemia 2, renal
ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant
ClinVar Annotator: match by term: Renal hypomagnesemia 2		 ClinVar PMID:3298795 PMID:11929868 PMID:25765846 PMID:28492532 NCBI chr11:117,820,057...117,876,658
Ensembl chr11:117,820,163...117,876,667 		JBrowse link
renal hypomagnesemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN16 claudin 16 IAGP OMIM NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138 		JBrowse link
G CLDN19 claudin 19 IAGP ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254 		JBrowse link
G EGF epidermal growth factor IAGP ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		JBrowse link
renal hypomagnesemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN19 claudin 19 IAGP ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254 		JBrowse link
G EGF epidermal growth factor IAGP ClinVar Annotator: match by term: Hypomagnesemia 4, renal
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by term: Renal hypomagnesemia 4		 ClinVar
OMIM		 PMID:17671655 PMID:25741868 PMID:28492532 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		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 IAGP ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement ClinVar NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138 		JBrowse link
G CLDN19 claudin 19 IAGP ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement
ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive		 ClinVar
OMIM		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254 		JBrowse link
G EGF epidermal growth factor IAGP ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766 		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 IAGP ClinVar Annotator: match by term: Hypomagnesemia 6, renal
ClinVar Annotator: match by term: Renal hypomagnesemia 6		 ClinVar
OMIM		 PMID:21397062 PMID:25741868 PMID:28492532 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22089
    Nutritional and Metabolic Diseases 7394
      nutrition disease 1415
        Malnutrition 336
          nutritional deficiency disease 325
            primary hypomagnesemia 8
              Manz Syndrome 0
              intestinal hypomagnesemia 1 2
              renal hypomagnesemia 2 3
              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 22089
    Nutritional and Metabolic Diseases 7394
      disease of metabolism 7394
        acquired metabolic disease 2655
          nutrition disease 1415
            Malnutrition 336
              nutritional deficiency disease 325
                primary hypomagnesemia 8
                  Manz Syndrome 0
                  intestinal hypomagnesemia 1 2
                  renal hypomagnesemia 2 3
                  renal hypomagnesemia 3 3
                  renal hypomagnesemia 4 2
                  renal hypomagnesemia 5 with ocular involvement 3
                  renal hypomagnesemia 6 1
paths to the root