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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 ISS
ISO		 OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar Annotator: match by term: Perrault syndrome		 MouseDO
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693 		JBrowse link
G Eral1 Era-like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr10:62,961,725...62,968,747
Ensembl chr10:62,961,730...62,968,994 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747 		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 chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		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 chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395 		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 chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		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 chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1		 OMIM
CTD
ClinVar		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 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
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 chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Perrault syndrome 3		 OMIM
CTD
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 More... NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693 		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 chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395 		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:28492532 PMID:29302074 PMID:31823625 More... NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		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 chr10:62,961,725...62,968,747
Ensembl chr10:62,961,730...62,968,994 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Perrault syndrome 8
        Perrault Syndrome 1 4
        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 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        Neurologic Manifestations 9984
          sensory system disease 6884
            Otorhinolaryngologic Diseases 1700
              auditory system disease 956
                Hearing Disorders 785
                  Hearing Loss 781
                    Deafness 349
                      Perrault syndrome 8
                        Perrault Syndrome 1 4
                        Perrault Syndrome 2 1
                        Perrault Syndrome 3 1
                        Perrault Syndrome 4 1
                        Perrault Syndrome 5 1
                        Perrault syndrome 6 1
paths to the root