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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: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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Gonadal Dysgenesis, XX Type, with Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency
ClinVar Annotator: match by term: Perrault syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Perrault Syndrome
ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS
OMIM
ClinVar
CTD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:4061497 PMID:8279468 PMID:9345094 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10400999 PMID:10419023 PMID:10497229 PMID:10671535 PMID:10748062 PMID:11330053 PMID:11743515 PMID:11810648 PMID:11992265 PMID:12562856 PMID:15216544 PMID:16385454 PMID:17576681 PMID:20673864 PMID:22507161 PMID:22864515 PMID:23100014 PMID:23181892 PMID:23308274 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:25526675 PMID:25741868 PMID:25882080 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27243974 PMID:27290639 PMID:27528516 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28649525 PMID:28830375 PMID:31455392 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 6:76,079,880...76,171,298
Ensembl chr 6:76,079,880...76,171,296
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)
ClinVar
OMIM
PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 PMID:22864515 PMID:23181892 PMID:24033266 PMID:24108619 PMID:25741868 PMID:25967389 PMID:26970254 PMID:27290639 PMID:28492532, PMID:9345094, PMID:16385454 RGD:1599968, RGD:10411884 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Perrault syndrome 7
        Gonadal Dysgenesis, XX Type, with Deafness 2
          D-bifunctional protein deficiency 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            auditory system disease 751
              Hearing Disorders 610
                Hearing Loss 606
                  Deafness 285
                    Perrault syndrome 7
                      Gonadal Dysgenesis, XX Type, with Deafness 2
                        D-bifunctional protein deficiency 1
paths to the root