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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 3
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Accession:DOID:0060880 term browser browse the term
Definition:A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. (DO)
Synonyms:exact_synonym: FHHNC without severe ocular involvement;   HOMG3;   familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement;   primary hypomagnesemia due to defect in renal tubular transport of magnesium;   renal hypomagnesemia type 3
 related_synonym: renal hypomagnesemia, recessive
 primary_id: OMIM:248250
 xref: ORDO:31043
For additional species annotation, visit the Alliance of Genome Resources.



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renal hypomagnesemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO OMIM NCBI chr11:74,290,298...74,309,588
Ensembl chr11:74,290,298...74,309,588
JBrowse link
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 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 18133
    Nutritional and Metabolic Diseases 6757
      nutrition disease 1041
        Malnutrition 310
          nutritional deficiency disease 301
            primary hypomagnesemia 7
              renal hypomagnesemia 3 3
Path 2
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        acquired metabolic disease 2146
          nutrition disease 1041
            Malnutrition 310
              nutritional deficiency disease 301
                primary hypomagnesemia 7
                  renal hypomagnesemia 3 3
paths to the root