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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
 primary_id: MESH:C565423
 alt_id: MESH:C536148;   OMIM:248190
 xref: 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 chrNW_004955420:17,684,752...17,714,639
Ensembl chrNW_004955420:17,693,573...17,715,211 		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 OMIM
ClinVar		 PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 More... 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 PMID:25741868 PMID:28492532 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
    syndrome 9327
      oculocerebrorenal syndrome 10
        renal hypomagnesemia 5 with ocular involvement 3
Path 2
Term Annotations click to browse term
  disease 16063
    Nutritional and Metabolic Diseases 6694
      disease of metabolism 6694
        acquired metabolic disease 2115
          nutrition disease 824
            Malnutrition 302
              nutritional deficiency disease 286
                primary hypomagnesemia 8
                  renal hypomagnesemia 5 with ocular involvement 3
paths to the root