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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:Hypocalcemia
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Accession:DOID:9009050 term browser browse the term
Definition:Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)
Synonyms:exact_synonym: Hypocalcemias
 primary_id: MESH:D006996


show annotations for term's descendants           Sort by:
Hypocalcemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia		 CTD
ClinVar		 PMID:7874174 PMID:11701698 PMID:25741868 PMID:28492532 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3017235 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11701698 PMID:11770836 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
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:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein IEP RGD PMID:2106357 RGD:6483581 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Casr calcium-sensing receptor ISO DNA:missense mutation:cds:p.E128A (human)
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia
DNA:missense mutations:cds:multiple (human)
DNA:missense mutation:cds:p.L723Q (mouse)
DNA:missense mutation:cds:p.T151M (human)		 ClinVar
RGD		 PMID:8675635 PMID:8878438 PMID:9039332 PMID:11136551 PMID:11701698 More... RGD:1598940, RGD:7204717, RGD:7205497, RGD:7205656 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Pth parathyroid hormone IEP protein:increased expression:serum (rat) RGD PMID:22581996 RGD:7242904 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		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 ISS
ISO		 OMIM:601198
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL		 MouseDO
ClinVar
OMIM		 PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		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
ISS		 OMIM:615361
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 2		 OMIM
MouseDO
ClinVar		 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 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome		 CTD
ClinVar		 PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
intestinal hypomagnesemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPOMAGNESEMIC TETANY | ClinVar Annotator: match by term: Intestinal hypomagnesemia 1		 OMIM
CTD
ClinVar		 PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 More... NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520 		JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 ISO ClinVar Annotator: match by term: Intestinal hypomagnesemia 1 ClinVar NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome | ClinVar Annotator: match by term: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia		 OMIM
CTD
ClinVar		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547 		JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
Tetany term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap5 A-kinase anchoring protein 5 IEP mRNA:increased expression:dentate gyrus (rat) RGD PMID:12542670 RGD:2313247 NCBI chr 6:95,051,527...95,061,075
Ensembl chr 6:95,051,537...95,061,578 		JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23027747 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    Nutritional and Metabolic Diseases 8523
      disease of metabolism 8523
        Water-Electrolyte Imbalance 105
          Hypocalcemia 14
            Tetany 2
            autosomal dominant hypocalcemia + 8
            intestinal hypomagnesemia 1 2
Path 2
Term Annotations click to browse term
  disease 19051
    Nutritional and Metabolic Diseases 8523
      disease of metabolism 8523
        acquired metabolic disease 2526
          mineral metabolism disease 954
            calcium metabolism disease 627
              Hypocalcemia 14
                Tetany 2
                autosomal dominant hypocalcemia + 8
                intestinal hypomagnesemia 1 2
paths to the root