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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;   renal hypomagnesemia, recessive
 primary_id: MESH:C565423
 alt_id: MESH:C536148;   OMIM:248190
 xref: ORDO:2196
For additional species annotation, visit the Alliance of Genome Resources.


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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: Hypomagnesemia 5, renal, with ocular involvement ClinVar NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
JBrowse link
G Cldn19 claudin 19 ISO ClinVar Annotator: match by OMIM:248190
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement
OMIM
ClinVar
PMID:17033971, PMID:18188451, PMID:22422540, PMID:27530400, PMID:28492532 NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
JBrowse link
G Egf epidermal growth factor ISO ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar NCBI chr 2:68,820,616...68,895,537 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      renal hypomagnesemia 5 with ocular involvement 3
Path 2
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        acquired metabolic disease 2788
          nutrition disease 918
            Malnutrition 197
              nutritional deficiency disease 189
                primary hypomagnesemia 7
                  renal hypomagnesemia 5 with ocular involvement 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.