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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 PMID:791660, PMID:1302026, PMID:1889203, PMID:7054696, PMID:7717399, PMID:7726161, PMID:7791841, PMID:7874174, PMID:7916660, PMID:8132750, PMID:8636323, PMID:8675635, PMID:8702647, PMID:8733126, PMID:8878438, PMID:9011580, PMID:9039332, PMID:9109436, PMID:9217223, PMID:9253359, PMID:9395465, PMID:9422777, PMID:10023897, PMID:10077597, PMID:10217111, PMID:10468915, PMID:10488104, PMID:10843194, PMID:10885494, PMID:10912749, PMID:10912782, PMID:10971459, PMID:11102444, PMID:11161843, PMID:11248745, PMID:11580999, PMID:11733622, PMID:11762699, PMID:11763315, PMID:11807402, PMID:11889203, PMID:12018449, PMID:12040821, PMID:12052452, PMID:12095982, PMID:12114500, PMID:12239240, PMID:12574201, PMID:12580936, PMID:12890593, PMID:14508624, PMID:14714270, PMID:14997007, PMID:15531522, PMID:15551332, PMID:15572418, PMID:15591042, PMID:15751724, PMID:15864123, PMID:15879434, PMID:15963484, PMID:16491288, PMID:16497624, PMID:16598859, PMID:16649980, PMID:16740594, PMID:16918956, PMID:17018660, PMID:17117288, PMID:17284438, PMID:17309124, PMID:17320849, PMID:17332735, PMID:17478419, PMID:17555508, PMID:17698911, PMID:17803689, PMID:17974727, PMID:18219222, PMID:18328986, PMID:18410554, PMID:18680227, PMID:18751724, PMID:18756473, PMID:18796518, PMID:18830196, PMID:19073830, PMID:19179454, PMID:19389809, PMID:19694204, PMID:19759318, PMID:19763152, PMID:20034274, PMID:20164288, PMID:20307669, PMID:20374733, PMID:20602573, PMID:20798521, PMID:20972686, PMID:21175100, PMID:21239511, PMID:21289269, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22142470, PMID:22187299, PMID:22192860, PMID:22232026, PMID:22331334, PMID:22406018, PMID:22422767, PMID:22798347, PMID:23077345, PMID:23169696, PMID:23265383, PMID:23372019, PMID:23764372, PMID:23966241, PMID:24033266, PMID:24133354, PMID:24203066, PMID:24394414, PMID:24735972, PMID:24763815, PMID:24854525, PMID:24947037, PMID:25091521, PMID:25104082, PMID:25292184, PMID:25705702, PMID:25741868, PMID:25765207, PMID:25828954, PMID:26107257, PMID:26161261, PMID:26166472, PMID:26290606, PMID:26467025, PMID:26646938, PMID:26855056, PMID:26963950, PMID:27086061, PMID:27157104, PMID:27434672, PMID:27666534, PMID:27957351, PMID:28176280, PMID:28492532, PMID:29026550, PMID:29846619, PMID:30019023, PMID:30052933, PMID:30311386 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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
PMID:791660, PMID:1302026, PMID:1706284, PMID:2211966, PMID:3966479, PMID:5013415, PMID:6543841, PMID:7054696, PMID:7673400, PMID:7717399, PMID:7726161, PMID:7791841, PMID:7874174, PMID:7916660, PMID:8636323, PMID:8675635, PMID:8702647, PMID:8878438, PMID:9011580, PMID:9109436, PMID:9422777, PMID:10023897, PMID:10077597, PMID:10217111, PMID:10468915, PMID:10843194, PMID:10912749, PMID:10912782, PMID:11102444, PMID:11134112, PMID:11161843, PMID:11231970, PMID:11248745, PMID:11580999, PMID:11668634, PMID:11733622, PMID:11762699, PMID:11807402, PMID:11889203, PMID:12018449, PMID:12040821, PMID:12052452, PMID:12095982, PMID:12114500, PMID:12239240, PMID:12469911, PMID:12574201, PMID:12890593, PMID:14089114, PMID:14508624, PMID:14997007, PMID:15241688, PMID:15292296, PMID:15531522, PMID:15572418, PMID:15579740, PMID:15598778, PMID:15751724, PMID:15864123, PMID:15879434, PMID:16491288, PMID:16497624, PMID:16598859, PMID:16642557, PMID:17018660, PMID:17117288, PMID:17284438, PMID:17309124, PMID:17320849, PMID:17332735, PMID:17473068, PMID:17555508, PMID:17698911, PMID:18328986, PMID:18680227, PMID:18751724, PMID:18756473, PMID:18887540, PMID:18938753, PMID:19179454, PMID:19389809, PMID:19423559, PMID:19694204, PMID:19759318, PMID:20164288, PMID:20290361, PMID:20602573, PMID:20798521, PMID:21239511, PMID:21289269, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22192860, PMID:22422767, PMID:22798347, PMID:23077345, PMID:23966241, PMID:24033266, PMID:24133354, PMID:24203066, PMID:24297799, PMID:25091521, PMID:25292184, PMID:25705702, PMID:25741868, PMID:25766501, PMID:26107257, PMID:26161261, PMID:26166472, PMID:26467025, PMID:26646938, PMID:26963950, PMID:27157104, PMID:27390877, PMID:27434672, PMID:27666534, PMID:27957351, PMID:28176280, PMID:28492532, PMID:29846619, PMID:30311386, PMID:7493018, PMID:7916660, PMID:7726161, PMID:21034470 RGD:7205436, RGD:1600616, RGD:7205440, RGD:7205499 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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
NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
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, PMID:25741868, PMID:26082470, PMID:27050234, PMID:27761240, PMID:27913609, PMID:28492532, PMID:29325022, PMID:29420171 NCBI chr 1:78,671,238...78,682,847
Ensembl chr 1:78,671,121...78,682,871
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
          hypercalcemia 17
            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 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
                familial hypocalciuric hypercalcemia 3
                  familial hypocalciuric hypercalcemia 1 1
                  familial hypocalciuric hypercalcemia 2 1
                  familial hypocalciuric hypercalcemia 3 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.