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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:hypoparathyroidism-deafness-renal disease syndrome
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Accession:DOID:0060878 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)
Synonyms:exact_synonym: Barakat syndrome;   HDR;   HDR syndrome;   HDRS;   hypoparathyroidism, sensorineural deafness, and renal disease;   hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome;   nephrosis, nerve deafness, and hypoparathyroidism
 primary_id: MESH:C537907
 alt_id: OMIM:146255
 xref: NCI:C130983;   ORDO:2237
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd7 acyl-CoA binding domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,903,936...74,909,977
Ensembl chr17:74,903,177...74,905,811
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
JBrowse link
G Akr1e2 aldo-keto reductase family 1, member E2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:65,735,909...65,750,441
Ensembl chr17:65,735,943...65,750,441
JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,735,325...66,748,533
Ensembl chr17:66,737,261...66,748,533
JBrowse link
G Arl5b ADP-ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,955,749...77,983,745
Ensembl chr17:77,955,818...77,979,854
JBrowse link
G Asb13 ankyrin repeat and SOCS box-containing 13 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,564,653...66,583,365
Ensembl chr17:66,562,434...66,583,337
JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,423,927...68,446,169 JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,483,212...73,566,221
Ensembl chr17:73,485,282...73,567,559
JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,121,832...76,128,327
Ensembl chr17:76,119,447...76,128,530
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,419,844...66,423,083
Ensembl chr17:66,419,882...66,423,175
JBrowse link
G Calml5 calmodulin-like 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,394,433...66,395,390 JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556
JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337
JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,459,296...72,502,948
Ensembl chr17:72,459,282...72,503,316
JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,714,564...74,728,639
Ensembl chr17:74,713,564...74,728,639
JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333
JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
JBrowse link
G Echdc3 enoyl CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,070,697...72,093,519
Ensembl chr17:72,070,668...72,093,516
JBrowse link
G Fam107b family with sequence similarity 107, member B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,478,608...74,685,027
Ensembl chr17:74,478,608...74,684,989
JBrowse link
G Fam171a1 family with sequence similarity 171, member A1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,024,582...75,148,348
Ensembl chr17:75,024,575...75,150,255
JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,749,506...66,787,590
Ensembl chr17:66,749,534...66,787,590
JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,667,787...74,258,487 JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome
ClinVar Annotator: match by term: Barakat syndrome
ClinVar Annotator: match by OMIM:146255
ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10935639 PMID:11389161 PMID:15705923 PMID:16912130 PMID:17309062 More... NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366
JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073
JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510
JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:68,375,518...68,411,849
Ensembl chr17:68,375,567...68,411,841
JBrowse link
G Itih5 inter-alpha-trypsin inhibitor heavy chain 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,248,115...68,352,216 JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:68,413,483...68,431,392
Ensembl chr17:68,413,486...68,423,845
JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364
JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433
JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,545,286...75,623,884
Ensembl chr17:75,545,286...75,623,854
JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441
JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,917,833...74,964,788
Ensembl chr17:74,917,833...74,961,080
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,877,651...74,902,517
Ensembl chr17:74,877,655...74,902,518
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,983,629...67,064,702
Ensembl chr17:66,983,686...67,063,125
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,151,961...72,187,524
Ensembl chr17:72,151,872...72,185,825
JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979
JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,058,388...76,119,633
Ensembl chr17:76,058,503...76,119,627
JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,937,140...66,954,034
Ensembl chr17:66,937,140...66,954,014
JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,914,066...74,917,742
Ensembl chr17:74,908,932...74,927,431
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454
JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494
JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,354,435...73,382,803
Ensembl chr17:73,356,530...73,382,593
JBrowse link
G Sfmbt2 Scm-like with four mbt domains 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:67,934,296...68,128,905
Ensembl chr17:67,935,904...68,128,781
JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,353,761...77,440,381
Ensembl chr17:77,353,805...77,440,353
JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,740,755...76,883,766
Ensembl chr17:76,745,224...76,884,299
JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467
JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:68,455,389...68,608,367 JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,583,554...66,650,127
Ensembl chr17:66,594,908...66,649,135
JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439
JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,323,733...66,332,423
Ensembl chr17:66,323,733...66,335,355
JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,293,977...73,303,728
Ensembl chr17:73,293,978...73,303,611
JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,309,952...66,315,571
Ensembl chr17:66,309,371...66,315,990
JBrowse link
G Upf2 UPF2, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,224,575...72,335,896
Ensembl chr17:72,225,316...72,335,855
JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:71,828,433...71,956,878
Ensembl chr17:71,830,469...71,956,027
JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      chromosomal deletion syndrome 1003
        hypoparathyroidism-deafness-renal disease syndrome 70
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1341
            auditory system disease 908
              Hearing Disorders 738
                Hearing Loss 734
                  sensorineural hearing loss 605
                    hypoparathyroidism-deafness-renal disease syndrome 70
paths to the root