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ONTOLOGY REPORT - ANNOTATIONS


Term:Gonadal Dysgenesis, XX Type, with Deafness
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Accession:DOID:9003326 term browser browse the term
Synonyms:exact_synonym: 17-beta-hydroxysteroid dehydrogenase 4, deficiency of;   Ovarian dysgenesis with sensorineural deafness;   PRLTS1;   Peroxisomal bifunctional enzyme complex deficiency;   Peroxisomal bifunctional enzyme deficiency;   Perrault syndrome 1;   gonadal dysgenesis XX type deafness
 primary_id: MESH:C537286
 alt_id: OMIM:233400;   RDO:0003101
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show annotations for term's descendants       view all columns           Sort by:
 
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
G Prorp protein only RNase P catalytic subunit JBrowse link 6 76,079,880 76,171,298 RGD:8554872
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      Perrault syndrome 7
        Gonadal Dysgenesis, XX Type, with Deafness 2
          D-bifunctional protein deficiency 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        sensory system disease 4593
          Otorhinolaryngologic Diseases 1078
            auditory system disease 686
              Hearing Disorders 570
                Hearing Loss 566
                  Deafness 251
                    Perrault syndrome 7
                      Gonadal Dysgenesis, XX Type, with Deafness 2
                        D-bifunctional protein deficiency 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.