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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:10077597 PMID:10468915 PMID:10488104 PMID:10843194 PMID:10885494 PMID:10912782 PMID:10971459 PMID:11102444 PMID:11762699 PMID:11763315 PMID:11807402 PMID:11889203 PMID:12095982 PMID:12114500 PMID:12580936 PMID:12890593 PMID:14714270 PMID:15551332 PMID:15572418 PMID:15591042 PMID:15751724 PMID:15879434 PMID:15963484 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16649980 PMID:16740594 PMID:16918956 PMID:17284438 PMID:17320849 PMID:17478419 PMID:17555508 PMID:17698911 PMID:17803689 PMID:17974727 PMID:18219222 PMID:18410554 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:19073830 PMID:19179454 PMID:19389809 PMID:19759318 PMID:19763152 PMID:20034274 PMID:20164288 PMID:20307669 PMID:20374733 PMID:20798521 PMID:20972686 PMID:21175100 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21521328 PMID:21645025 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:24133354 PMID:24203066 PMID:24394414 PMID:24735972 PMID:24763815 PMID:24854525 PMID:24947037 PMID:25091521 PMID:25104082 PMID:25292184 PMID:25741868 PMID:25765207 PMID:25828954 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:31672324 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: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 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        Water-Electrolyte Imbalance 69
          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 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                familial hypocalciuric hypercalcemia 3
                  familial hypocalciuric hypercalcemia 1 1
                  familial hypocalciuric hypercalcemia 2 1
                  familial hypocalciuric hypercalcemia 3 1
paths to the root