ONTOLOGY REPORT - ANNOTATIONS


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;   RENAL HYPOMAGNESEMIA, RECESSIVE;   bilateral macular coloboma with hypercalciuria;   familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement;   hypercalciuria-bilateral macular coloboma syndrome;   renal hypomagnesemia with ocular involvement
 primary_id: MESH:C565423
 alt_id: DOID:9000016;   MESH:C536148;   OMIM:248190;   RDO:0001605;   RDO:0014062
 xref: ORDO:2196
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renal hypomagnesemia 5 with ocular involvement term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:7240710
RGD:8554872
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      renal hypomagnesemia 5 with ocular involvement 2
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                oculocerebrorenal syndrome 7
                  renal hypomagnesemia 5 with ocular involvement 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.