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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 Bnc2 basonuclin 2 JBrowse link 5 102,407,508 102,807,389 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 JBrowse link 1 266,422,127 266,429,947 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:7240710
RGD:8554872
RGD:11554173
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 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:8554872
RGD:10411884
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    syndrome 4730
      Perrault syndrome 12
        Gonadal Dysgenesis, XX Type, with Deafness 7
          D-bifunctional protein deficiency 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        sensory system disease 4270
          Otorhinolaryngologic Diseases 1044
            auditory system disease 668
              Hearing Disorders 554
                Hearing Loss 550
                  Deafness 262
                    Perrault syndrome 12
                      Gonadal Dysgenesis, XX Type, with Deafness 7
                        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.