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ONTOLOGY REPORT - ANNOTATIONS


Term:Perrault syndrome
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Accession:DOID:0050857 term browser browse the term
Definition:An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure. (DO)
Synonyms:primary_id: RDO:9005113
 xref: GARD:2542;   OMIM:PS233400;   ORDO:2855
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Perrault syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit JBrowse link 9 10,048,715 10,056,068 RGD:13592920
G Hars2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 18 29,629,203 29,638,460 RGD:13592920
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:8554872
RGD:13592920
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:8554872
RGD:13592920
D-bifunctional protein deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:1599968
RGD:10411884
RGD:7240710
Gonadal Dysgenesis, XX Type, with Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:7240710
RGD:8554872
RGD:11554173
Perrault Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hars2 histidyl-tRNA synthetase 2, mitochondrial JBrowse link 18 29,629,203 29,638,460 RGD:7240710
RGD:8554872
Perrault Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit JBrowse link 9 10,048,715 10,056,068 RGD:7240710
RGD:8554872
Perrault Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:7240710
RGD:8554872
Perrault syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twnk twinkle mtDNA helicase JBrowse link 1 264,756,060 264,762,892 RGD:7240710
RGD:8554872
Perrault syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eral1 Era-like 12S mitochondrial rRNA chaperone 1 JBrowse link 10 65,272,849 65,291,070 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Perrault syndrome 6
        Gonadal Dysgenesis, XX Type, with Deafness + 1
        Perrault Syndrome 2 1
        Perrault Syndrome 3 1
        Perrault Syndrome 4 1
        Perrault syndrome 5 1
        Perrault syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          Otorhinolaryngologic Diseases 1075
            auditory system disease 684
              Hearing Disorders 569
                Hearing Loss 565
                  Deafness 249
                    Perrault syndrome 6
                      Gonadal Dysgenesis, XX Type, with Deafness + 1
                      Perrault Syndrome 2 1
                      Perrault Syndrome 3 1
                      Perrault Syndrome 4 1
                      Perrault syndrome 5 1
                      Perrault syndrome 6 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.