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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.


show annotations for term's descendants           Sort by:
 
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:8636323, PMID:8698326, PMID:8702647, PMID:8733126, PMID:8813042, PMID:9253358, PMID:9661634, PMID:9920108, PMID:10023897, PMID:10217111, PMID:10487661, PMID:10770217, PMID:10912749, PMID:11134112, PMID:11136551, PMID:11152759, PMID:11161843, PMID:11248745, PMID:11580999, PMID:11701698, PMID:11733622, PMID:11807402, PMID:12018449, PMID:12040821, PMID:12050233, PMID:12052452, PMID:12067826, PMID:12107202, 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:17309124, PMID:17320849, PMID:17332735, PMID:17555508, PMID:17698911, PMID:18328986, PMID:18680227, PMID:18756473, PMID:19694204, PMID:20119591, PMID:20164288, PMID:20602573, PMID:20668040, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22192860, PMID:22422767, PMID:22789683, 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 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 family with sequence similarity 111, member 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 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 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        Water-Electrolyte Imbalance 68
          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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                autosomal dominant hypocalcemia 8
                  Kenny-Caffey syndrome type 2 2
                  autosomal dominant hypocalcemia 1 + 1
                  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.