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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 5 with ocular involvement
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Accession:DOID:0060881 term browser browse the term
Definition:A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. (DO)
Synonyms:exact_synonym: FHHNC with severe ocular involvement;   HOMG5;   Idiopathic hypercalciuria with bilateral macular colobomata;   Meier-Blumberg-Imahorn syndrome;   bilateral macular coloboma with hypercalciuria;   familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement;   hypercalciuria-bilateral macular coloboma syndrome;   renal hypomagnesemia with ocular involvement
 related_synonym: renal hypomagnesemia, recessive
 xref: MESH:C536148;   MESH:C565423;   MIM:248190;   MONDO:0009548;   ORDO:2196


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renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn16 claudin 16 ISO ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement ClinVar 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 Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... 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...218,302,359
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 19102
    syndrome 11271
      oculocerebrorenal syndrome 12
        renal hypomagnesemia 5 with ocular involvement 3
Path 2
Term Annotations click to browse term
  disease 19102
    Nutritional and Metabolic Diseases 8520
      disease of metabolism 8520
        acquired metabolic disease 2529
          nutrition disease 1026
            Malnutrition 278
              nutritional deficiency disease 261
                primary hypomagnesemia 8
                  renal hypomagnesemia 5 with ocular involvement 3
paths to the root