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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
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Accession:DOID:0090109 term browser browse the term
Definition:A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. (DO)
Synonyms:exact_synonym: HYPOC
 alt_id: GARD:2877;   ICD10CM:E20.8;   ORDO:428
 xref: OMIM:PS601198
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant hypocalcemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked IEP RGD PMID:15721149 RGD:1599092 NCBI chr  X:26,439,197...26,450,495
Ensembl chr  X:26,439,197...26,450,495
JBrowse link
G Bglap bone gamma-carboxyglutamate protein IEP RGD PMID:2106357 RGD:6483581 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Casr calcium-sensing receptor ISO DNA:missense mutation:cds:p.E128A (human)
DNA:missense mutation:cds:p.T151M (human)
DNA:missense mutation:cds:p.L723Q (mouse)
DNA:missense mutations:cds:multiple (human)
RGD PMID:7874174, PMID:20501971, PMID:15347804, PMID:8813042 RGD:1598940, RGD:7205656, RGD:7205497, RGD:7204717 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Pth parathyroid hormone IEP protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
autosomal dominant hypocalcemia 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 OMIM:601198
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1
ClinVar Annotator: match by term: HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT
ClinVar
OMIM
PMID:1706284 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:9253358 PMID:9422777 PMID:9661634 PMID:9920108 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10487661 PMID:10770217 PMID:10912749 PMID:10912782 PMID:11102444 PMID:11134112 PMID:11136551 PMID:11152759 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11701698 PMID:11733622 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12050233 PMID:12052452 PMID:12067826 PMID:12095982 PMID:12107202 PMID:12114500 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12574188 PMID:12574201 PMID:12733714 PMID:12915654 PMID:14508624 PMID:14519094 PMID:14997007 PMID:15531522 PMID:15598778 PMID:15864123 PMID:15879434 PMID:16497624 PMID:16608894 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17555508 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18756473 PMID:19389809 PMID:19694204 PMID:20119591 PMID:20164288 PMID:20602573 PMID:20668040 PMID:21239511 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:22789683 PMID:23077345 PMID:24033266 PMID:24133354 PMID:24297799 PMID:24823460 PMID:25137426 PMID:25292184 PMID:25326635 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26166472 PMID:26467025 PMID:26646938 PMID:27157104 PMID:27957351 PMID:28492532 PMID:29846619 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
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 ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 2
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:6278146 PMID:23802536 PMID:24823460 PMID:25741868 NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
JBrowse link
Autosomal Dominant Hypocalcemia, with Bartter Syndrome 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: Hypocalcemia, autosomal dominant 1, with bartter syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25741868 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2
ClinVar Annotator: match by OMIM:127000
OMIM
ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:29073591 PMID:32996714 NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Nutritional and Metabolic Diseases 5219
      disease of metabolism 5219
        Water-Electrolyte Imbalance 69
          Hypocalcemia 13
            autosomal dominant hypocalcemia 8
              Kenny-Caffey syndrome type 2 2
              autosomal dominant hypocalcemia 1 + 1
              autosomal dominant hypocalcemia 2 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          monogenic disease 6354
            autosomal genetic disease 5505
              autosomal dominant disease 3758
                autosomal dominant hypocalcemia 8
                  Kenny-Caffey syndrome type 2 2
                  autosomal dominant hypocalcemia 1 + 1
                  autosomal dominant hypocalcemia 2 1
paths to the root