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ONTOLOGY REPORT - ANNOTATIONS


Term:hypoparathyroidism-deafness-renal disease syndrome
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Accession:DOID:0060878 term browser browse the term
Definition:A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure 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 DYSPLASIA SYNDROME;   hypoparathyroidism, sensorineural deafness, and renal disease;   nephrosis, nerve deafness, and hypoparathyroidism
 primary_id: MESH:C537907
 alt_id: OMIM:146255;   RDO:0003822
 xref: NCI:C130983;   ORDO:2237
For additional species annotation, visit the Alliance of Genome Resources.


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hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd7 acyl-CoA binding domain containing 7 JBrowse link 17 78,904,549 78,913,372 RGD:8554872
G Akr1c1 aldo-keto reductase family 1, member C1 JBrowse link 17 69,441,253 69,460,334 RGD:8554872
G Akr1c2 aldo-keto reductase family 1, member C2 JBrowse link 17 69,388,337 69,435,160 RGD:8554872
G Akr1c3 aldo-keto reductase family 1, member C3 JBrowse link 17 69,761,126 69,778,021 RGD:8554872
G Akr1e2 aldo-keto reductase family 1, member E2 JBrowse link 17 69,365,437 69,379,944 RGD:8554872
G Ankrd16 ankyrin repeat domain 16 JBrowse link 17 70,384,883 70,398,089 RGD:8554872
G Arl5b ADP-ribosylation factor like GTPase 5B JBrowse link 17 82,065,893 82,092,693 RGD:8554872
G Asb13 ankyrin repeat and SOCS box-containing 13 JBrowse link 17 70,215,401 70,234,103 RGD:8554872
G Atp5f1c ATP synthase F1 subunit gamma JBrowse link 17 72,209,321 72,231,562 RGD:8554872
G Bend7 BEN domain containing 7 JBrowse link 17 77,448,430 77,527,888 RGD:8554872
G C1ql3 complement C1q like 3 JBrowse link 17 80,314,186 80,320,681 RGD:8554872
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 JBrowse link 17 81,673,862 82,019,219 RGD:8554872
G Calml3 calmodulin-like 3 JBrowse link 17 70,070,458 70,073,697 RGD:8554872
G Calml5 calmodulin-like 5 JBrowse link 17 70,044,956 70,045,886 RGD:8554872
G Camk1d calcium/calmodulin-dependent protein kinase ID JBrowse link 17 76,532,611 76,938,956 RGD:8554872
G Ccdc3 coiled-coil domain containing 3 JBrowse link 17 76,991,722 77,093,515 RGD:8554872
G Cdc123 cell division cycle 123 JBrowse link 17 76,410,629 76,454,275 RGD:8554872
G Cdnf cerebral dopamine neurotrophic factor JBrowse link 17 78,721,230 78,735,324 RGD:8554872
G Celf2 CUGBP, Elav-like family member 2 JBrowse link 17 75,259,269 75,660,154 RGD:8554872
G Cubn cubilin JBrowse link 17 80,584,921 80,807,181 RGD:8554872
G Dclre1c DNA cross-link repair 1C JBrowse link 17 78,782,512 78,812,140 RGD:8554872
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 JBrowse link 17 76,306,585 76,358,058 RGD:8554872
G Echdc3 enoyl CoA hydratase domain containing 3 JBrowse link 17 76,002,304 76,022,813 RGD:8554872
G Fam107b family with sequence similarity 107, member B JBrowse link 17 78,489,667 78,689,933 RGD:8554872
G Fam171a1 family with sequence similarity 171, member A1 JBrowse link 17 79,030,150 79,149,480 RGD:8554872
G Fbh1 F-box DNA helicase 1 JBrowse link 17 70,399,093 70,437,151 RGD:8554872
G Frmd4a FERM domain containing 4A JBrowse link 17 77,642,302 77,918,210 RGD:8554872
G Gata3 GATA binding protein 3 JBrowse link 17 72,419,752 72,452,043 RGD:7240710
RGD:8554872
RGD:11554173
G Gdi2 GDP dissociation inhibitor 2 JBrowse link 17 70,299,177 70,325,864 RGD:8554872
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 JBrowse link 17 81,173,238 81,196,012 RGD:8554872
G Hspa14 heat shock protein family A (Hsp70) member 14 JBrowse link 17 78,735,630 78,756,412 RGD:8554872
G Il15ra interleukin 15 receptor subunit alpha JBrowse link 17 70,451,861 70,481,838 RGD:8554872
G Il2ra interleukin 2 receptor subunit alpha JBrowse link 17 70,500,672 70,547,929 RGD:8554872
G Itga8 integrin subunit alpha 8 JBrowse link 17 79,321,893 79,676,927 RGD:8554872
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 JBrowse link 17 72,160,734 72,197,248 RGD:8554872
G Kin Kin17 DNA and RNA binding protein JBrowse link 17 72,198,882 72,216,780 RGD:8554872
G Mcm10 minichromosome maintenance 10 replication initiation factor JBrowse link 17 77,224,218 77,245,486 RGD:8554872
G Meig1 meiosis/spermiogenesis associated 1 JBrowse link 17 78,813,656 78,829,411 RGD:8554872
G Mindy3 MINDY lysine 48 deubiquitinase 3 JBrowse link 17 79,720,534 79,798,470 RGD:8554872
G Net1 neuroepithelial cell transforming 1 JBrowse link 17 69,991,786 70,020,977 RGD:8554872
G Nmt2 N-myristoyltransferase 2 JBrowse link 17 78,919,235 78,966,013 RGD:8554872
G Nsun6 NOP2/Sun RNA methyltransferase 6 JBrowse link 17 82,020,316 82,060,533 RGD:8554872
G Nudt5 nudix hydrolase 5 JBrowse link 17 76,387,027 76,410,309 RGD:8554872
G Olah oleoyl-ACP hydrolase JBrowse link 17 78,878,673 78,903,919 RGD:8554872
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:8554872
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 JBrowse link 17 70,632,778 70,713,736 RGD:8554872
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:8554872
G Prkcq protein kinase C, theta JBrowse link 17 70,971,915 71,105,286 RGD:8554872
G Proser2 proline and serine rich 2 JBrowse link 17 76,079,641 76,140,428 RGD:8554872
G Prpf18 pre-mRNA processing factor 18 JBrowse link 17 77,601,914 77,632,507 RGD:8554872
G Pter phosphotriesterase related JBrowse link 17 80,250,444 80,311,987 RGD:8554872
G Rbm17 RNA binding motif protein 17 JBrowse link 17 70,586,345 70,603,289 RGD:8554872
G Rpp38 ribonuclease P/MRP subunit p38 JBrowse link 17 78,915,450 78,919,144 RGD:8554872
G Rsu1 Ras suppressor protein 1 JBrowse link 17 80,388,477 80,577,338 RGD:8554872
G Sec61a2 Sec61 translocon alpha 2 subunit JBrowse link 17 76,358,947 76,385,860 RGD:8554872
G Sephs1 selenophosphate synthetase 1 JBrowse link 17 77,312,562 77,340,934 RGD:8554872
G Sfmbt2 Scm-like with four mbt domains 2 JBrowse link 17 71,719,012 71,904,303 RGD:8554872
G Slc39a12 solute carrier family 39 member 12 JBrowse link 17 81,455,731 81,541,742 RGD:8554872
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 JBrowse link 17 80,960,785 81,002,830 RGD:8554872
G Stam signal transducing adaptor molecule JBrowse link 17 81,209,795 81,256,111 RGD:8554872
G Suv39h2 suppressor of variegation 3-9 homolog 2 JBrowse link 17 78,762,897 78,782,016 RGD:8554872
G Taf3 TATA-box binding protein associated factor 3 JBrowse link 17 72,240,785 72,393,448 RGD:8554872
G Tasor2 transcription activation suppressor family member 2 JBrowse link 17 70,245,672 70,299,056 RGD:8554872
G Trdmt1 tRNA aspartic acid methyltransferase 1 JBrowse link 17 80,824,652 80,859,585 RGD:8554872
G Tubal3 tubulin, alpha-like 3 JBrowse link 17 69,974,272 69,982,957 RGD:8554872
G Ucma upper zone of growth plate and cartilage matrix associated JBrowse link 17 77,252,099 77,262,301 RGD:8554872
G Ucn3 urocortin 3 JBrowse link 17 69,959,879 69,966,532 RGD:8554872
G Upf2 UPF2, regulator of nonsense mediated mRNA decay JBrowse link 17 76,176,379 76,287,246 RGD:8554872
G Usp6nl USP6 N-terminal like JBrowse link 17 75,759,428 75,887,108 RGD:8554872
G Vim vimentin JBrowse link 17 80,882,715 80,891,200 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    syndrome 4713
      chromosomal deletion syndrome 380
        hypoparathyroidism-deafness-renal disease syndrome 70
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        sensory system disease 4249
          Otorhinolaryngologic Diseases 1019
            auditory system disease 643
              Hearing Disorders 529
                Hearing Loss 525
                  sensorineural hearing loss 417
                    hypoparathyroidism-deafness-renal disease syndrome 70
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.