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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: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
 xref: GARD:10828;   OMIM:PS145980;   ORDO:405
For additional species annotation, visit the Alliance of Genome Resources.



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familial hypocalciuric hypercalcemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar Annotator: match by term: Familial benign hypercalcemia
ClinVar PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2983592 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
familial hypocalciuric hypercalcemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type 1
ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:145980
ClinVar Annotator: match by null
DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.A213E (human)
ClinVar
CTD
OMIM
RGD
PMID:791660 PMID:1302026 PMID:1706284 PMID:2211966 PMID:3966479 More... RGD:7205436, RGD:1600616, RGD:7205440, RGD:7205499 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
familial hypocalciuric hypercalcemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type II OMIM
ClinVar
PMID:23802516 PMID:26729423 NCBI chr 7:8,163,752...8,177,636
Ensembl chr 7:8,162,750...8,179,812
JBrowse link
familial hypocalciuric hypercalcemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2s1 adaptor related protein complex 2 subunit sigma 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type III
OMIM
CTD
ClinVar
PMID:1524075 PMID:20133464 PMID:23222959 PMID:24081735 PMID:24731014 More... NCBI chr 1:77,417,496...77,428,903
Ensembl chr 1:77,417,477...77,428,905
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2650
          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 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal dominant disease 4492
                familial hypocalciuric hypercalcemia 3
                  familial hypocalciuric hypercalcemia 1 1
                  familial hypocalciuric hypercalcemia 2 1
                  familial hypocalciuric hypercalcemia 3 1
paths to the root