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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

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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 chrNW_004955537:2,265,711...2,271,096
Ensembl chrNW_004955537:2,265,711...2,271,289 		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:9536098 PMID:17576681 PMID:17671655 PMID:18550579 PMID:25741868 More... NCBI chrNW_004955496:325,954...401,430
Ensembl chrNW_004955496:328,075...401,569 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6696
      disease of metabolism 6696
        inherited metabolic disorder 5144
          renal tubular transport disease 118
            renal hypomagnesemia 4 2
Path 2
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6696
      disease of metabolism 6696
        acquired metabolic disease 2115
          nutrition disease 824
            Malnutrition 302
              nutritional deficiency disease 286
                primary hypomagnesemia 8
                  renal hypomagnesemia 4 2
paths to the root