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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 4
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Accession:DOID:0060882 term browser browse the term
Definition:A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has material_basis_in variation in the chromosome region 4q25. (DO)
Synonyms:exact_synonym: HOMG4;   normocalciuric renal hypomagnesemia
 related_synonym: renal hypomagnesemia, recessive
 primary_id: MESH:C567127
 alt_id: OMIM:611718
 xref: ORDO:34527
For additional species annotation, visit the Alliance of Genome Resources.



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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 5:132,862,939...132,870,364
Ensembl chr 5:132,863,267...132,868,227
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 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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 4 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 4 2
paths to the root