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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:Perrault syndrome
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Accession:DOID:0050857 term browser browse the term
Definition:A syndrome that is characterized by sensorineural hearing loss and ovarian failure. (DO)
Synonyms:xref: GARD:2542;   OMIM:PS233400;   ORDO:2855


show annotations for term's descendants           Sort by:
Perrault syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chr20:53,788,114...53,794,217
Ensembl chr20:53,788,164...53,794,174 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr 9:43,025,743...43,030,728
Ensembl chr 9:43,025,782...43,030,578 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 More... NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 More... NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chr20:53,788,114...53,794,217
Ensembl chr20:53,788,164...53,794,174 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151 		JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr10:50,765,591...50,938,643
Ensembl chr10:50,770,995...50,938,474 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 OMIM
ClinVar		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 NCBI chr 8:13,885,734...14,007,224 JBrowse link
Perrault Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 2 OMIM
ClinVar		 PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760 		JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 3 OMIM
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 More... NCBI chr20:53,788,114...53,794,217
Ensembl chr20:53,788,164...53,794,174 		JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 4 OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr20:42,891,823...43,080,987
Ensembl chr20:42,892,801...43,081,197 		JBrowse link
Perrault Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar		 PMID:25355836 PMID:25741868 PMID:27551684 PMID:27650058 PMID:28178980 More... NCBI chr28:13,672,772...13,680,732
Ensembl chr28:13,676,304...13,680,044 		JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28449065 NCBI chr 9:43,025,743...43,030,728
Ensembl chr 9:43,025,782...43,030,578 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Perrault syndrome 9
        Perrault Syndrome 1 5
        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 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Neurologic Manifestations 9572
          sensory system disease 6589
            Otorhinolaryngologic Diseases 1674
              auditory system disease 950
                Hearing Disorders 774
                  Hearing Loss 769
                    Deafness 369
                      Perrault syndrome 9
                        Perrault Syndrome 1 5
                        Perrault Syndrome 2 1
                        Perrault Syndrome 3 1
                        Perrault Syndrome 4 1
                        Perrault Syndrome 5 1
                        Perrault syndrome 6 1
paths to the root