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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: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



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autosomal dominant hypocalcemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO
ISS
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2
OMIM:615361
OMIM
ClinVar
MouseDO
PMID:6278146 PMID:23802516 PMID:23802536 PMID:24823460 PMID:25741868 More... NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Nutritional and Metabolic Diseases 8225
      disease of metabolism 8225
        Water-Electrolyte Imbalance 104
          Hypocalcemia 14
            autosomal dominant hypocalcemia 8
              autosomal dominant hypocalcemia 2 1
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            autosomal genetic disease 9457
              autosomal dominant disease 6212
                autosomal dominant hypocalcemia 8
                  autosomal dominant hypocalcemia 2 1
paths to the root