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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary hypomagnesemia
CTD
ClinVar
PMID:668721 PMID:10390358 PMID:10878661 PMID:11518780 PMID:15856319 More... NCBI chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515
JBrowse link
G Cnnm2 cyclin M2 ISO ClinVar Annotator: match by term: Hypomagnesemia ClinVar NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631
JBrowse link
G Egf epidermal growth factor ISO
ISS
MouseDO
RGD
PMID:17671655 RGD:6906911 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11062458 NCBI chr 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576
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 chr19:18,707,566...18,869,885
Ensembl chr19:18,727,347...18,869,875
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 2:126,633,478...126,718,181
Ensembl chr 2:126,633,485...126,718,150
JBrowse link
renal hypomagnesemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin M2 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Dominant ClinVar NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631
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 term: Renal hypomagnesemia 2
ClinVar
OMIM
RGD
PMID:3298795 PMID:11929868 PMID:25765846 PMID:28492532 PMID:11062458 RGD:1598986 NCBI chr 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576
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
IEA
OMIM:248250 OMIM
MouseDO
NCBI chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 4:119,112,638...119,119,635
Ensembl chr 4:119,112,611...119,119,635
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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 4:119,112,638...119,119,635
Ensembl chr 4:119,112,611...119,119,635
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 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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 chr16:26,281,885...26,301,515
Ensembl chr16:26,281,885...26,301,515
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 4:119,112,638...119,119,635
Ensembl chr 4:119,112,611...119,119,635
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar PMID:28492532 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
JBrowse link
renal hypomagnesemia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin M2 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 6 OMIM
ClinVar
PMID:21397062 PMID:25741868 PMID:28492532 NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    Nutritional and Metabolic Diseases 5926
      nutrition disease 873
        Malnutrition 302
          nutritional deficiency disease 291
            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 15283
    Nutritional and Metabolic Diseases 5926
      disease of metabolism 5926
        acquired metabolic disease 1998
          nutrition disease 873
            Malnutrition 302
              nutritional deficiency disease 291
                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