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:renal hypomagnesemia 6
go back to main search page
Accession:DOID:0060884 term browser browse the term
Definition:A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: HOMG6
 broad_synonym: renal hypomagnesemia, dominant
 primary_id: OMIM:613882
 alt_id: RDO:9000466
 xref: GARD:12155;   ICD10CM:E83.4
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 OMIM:613882
ClinVar Annotator: match by term: Hypomagnesemia 6, renal
OMIM
ClinVar
PMID:21397062 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        inherited metabolic disorder 2663
          renal tubular transport disease 94
            renal hypomagnesemia 6 1
Path 2
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        acquired metabolic disease 2908
          nutrition disease 920
            Malnutrition 225
              nutritional deficiency disease 216
                primary hypomagnesemia 7
                  renal hypomagnesemia 6 1
paths to the root