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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:renal hypomagnesemia 2
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Accession:DOID:0060885 term browser browse the term
Definition:A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: HOMG2;   autosomal dominant primary hypomagnesemia with hypocalciuria;   magnesium loss, isolated renal;   magnesium wasting, renal
 broad_synonym: renal hypomagnesemia, dominant
 primary_id: MESH:C537152
 alt_id: OMIM:154020
 xref: GARD:3350;   ORDO:34528
For additional species annotation, visit the Alliance of Genome Resources.



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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 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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
OMIM
ClinVar
RGD
PMID:3298795 PMID:11929868 PMID:25765846 PMID:28492532 PMID:11062458 RGD:1598986 NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        inherited metabolic disorder 4671
          renal tubular transport disease 98
            renal hypomagnesemia 2 2
Path 2
Term Annotations click to browse term
  disease 18145
    Nutritional and Metabolic Diseases 6763
      disease of metabolism 6763
        acquired metabolic disease 2150
          nutrition disease 1044
            Malnutrition 313
              nutritional deficiency disease 302
                primary hypomagnesemia 7
                  renal hypomagnesemia 2 2
paths to the root