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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant hypocalcemia 2
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Accession:DOID:0090108 term browser browse the term
Definition:An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. (DO)
Synonyms:exact_synonym: HYPOC2
 primary_id: OMIM:615361;   RDO:9000917
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autosomal dominant hypocalcemia 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Nutritional and Metabolic Diseases 4361
      disease of metabolism 4361
        Water-Electrolyte Imbalance 64
          Hypocalcemia 13
            autosomal dominant hypocalcemia 9
              autosomal dominant hypocalcemia 2 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                autosomal dominant hypocalcemia 9
                  autosomal dominant hypocalcemia 2 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.