ONTOLOGY REPORT - ANNOTATIONS


Term:familial hypocalciuric hypercalcemia 1
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Accession:DOID:0060700 term browser browse the term
Definition:A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. (DO)
Synonyms:exact_synonym: FBH1;   FHH type 1;   FHH1;   Familial Benign Hypercalcemia 1;   Familial benign hypercalcemia type 1;   HHC1;   familial hypocalciuric hypercalcemia, type 1;   familial hypocalciuric hypercalcemia, type I;   hypocalciuric hypercalcemia type I
 primary_id: MESH:C537145
 alt_id: OMIM:145980;   RDO:0002925
 xref: ORDO:93372
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familial hypocalciuric hypercalcemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:7205436
RGD:1600616
RGD:7205440
RGD:7205499
RGD:7240710
RGD:8554872
RGD:11554173

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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          familial hypocalciuric hypercalcemia 1 1
Path 2
Term Annotations click to browse term
  disease 14926
    Nutritional and Metabolic Diseases 4266
      disease of metabolism 4266
        acquired metabolic disease 2678
          mineral metabolism disease 410
            calcium metabolism disease 262
              hypercalcemia 17
                familial hypocalciuric hypercalcemia 3
                  familial hypocalciuric hypercalcemia 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.