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ONTOLOGY REPORT - ANNOTATIONS


Term:familial hypocalciuric hypercalcemia
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Accession:DOID:0060699 term browser browse the term
Definition:A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. (DO)
Synonyms:exact_synonym: FBH;   FBHH;   FHH;   familial benign hypercalcemia;   familial benign hypocalciuric hypercalcemia
 primary_id: RDO:9004019
 xref: GARD:10828;   OMIM:PS145980;   ORDO:405
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familial hypocalciuric hypercalcemia 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:8554872
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:8554872
RGD:11554173
RGD:1600616
RGD:7205440
RGD:7205499
RGD:7240710
familial hypocalciuric hypercalcemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gna11 G protein subunit alpha 11 JBrowse link 7 11,033,400 11,047,284 RGD:7240710
RGD:8554872
familial hypocalciuric hypercalcemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap2s1 adaptor related protein complex 2 subunit sigma 1 JBrowse link 1 78,671,238 78,682,847 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        Water-Electrolyte Imbalance 64
          hypercalcemia 17
            familial hypocalciuric hypercalcemia 3
              familial hypocalciuric hypercalcemia 1 1
              familial hypocalciuric hypercalcemia 2 1
              familial hypocalciuric hypercalcemia 3 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                familial hypocalciuric hypercalcemia 3
                  familial hypocalciuric hypercalcemia 1 1
                  familial hypocalciuric hypercalcemia 2 1
                  familial hypocalciuric hypercalcemia 3 1
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.