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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: Perrault syndrome 1
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency
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 More... NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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
RGD
PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Perrault syndrome 7
        Gonadal Dysgenesis, XX Type, with Deafness 2
          D-bifunctional protein deficiency 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            auditory system disease 913
              Hearing Disorders 741
                Hearing Loss 737
                  Deafness 386
                    Perrault syndrome 7
                      Gonadal Dysgenesis, XX Type, with Deafness 2
                        D-bifunctional protein deficiency 1
paths to the root