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

show annotations for term's descendants           Sort by:
 
Perrault syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISS OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 MouseDO NCBI chr 9:10,048,715...10,056,068
Ensembl chr 9:10,048,886...10,054,359 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISS OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 MouseDO NCBI chr18:29,629,203...29,638,460
Ensembl chr18:29,629,184...29,638,721 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO
ISS		 ClinVar Annotator: match by term: Perrault Syndrome
ClinVar Annotator: match by term: Perrault syndrome
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300		 ClinVar
MouseDO		 PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISS
ISO		 OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar Annotator: match by term: Perrault syndrome		 MouseDO
ClinVar		 PMID:23541342, PMID:24033266, PMID:25741868, PMID:26537577, PMID:26970254 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369 		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:30311386, 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
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
ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by term: Perrault Syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2868085, PMID:2882519, PMID:2921319, PMID:4061497, PMID:8279468, PMID:9345094, PMID:9482850, 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: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:26467025, PMID:26970254, PMID:27243974, PMID:27290639, PMID:27528516, PMID:27790638, PMID:28017249, PMID:28492532, PMID:28649525, PMID:28830375, PMID:30311386 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
Perrault Syndrome 2 term browser
Symbol Object Name Qualifiers 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
ClinVar Annotator: match by OMIM:614926		 OMIM
ClinVar		 PMID:517579, PMID:21464306, PMID:24033266, PMID:25741868 NCBI chr18:29,629,203...29,638,460
Ensembl chr18:29,629,184...29,638,721 		JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Qualifiers 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
ClinVar Annotator: match by OMIM:614129		 OMIM
ClinVar		 PMID:17690910, PMID:21660509, PMID:22037954, PMID:23541340, PMID:24824130, PMID:25741868, PMID:27087618 NCBI chr 9:10,048,715...10,056,068
Ensembl chr 9:10,048,886...10,054,359 		JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:615300
ClinVar Annotator: match by term: Perrault syndrome 4		 OMIM
ClinVar		 PMID:23541342, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26537577, PMID:26657938, PMID:26970254, PMID:28492532, PMID:28708303, PMID:30311386 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369 		JBrowse link
Perrault syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome 5
ClinVar Annotator: match by OMIM:616138		 OMIM
ClinVar		 PMID:25355836, PMID:25741868 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892 		JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Qualifiers 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 ClinVar
OMIM		 PMID:28449065 NCBI chr10:65,272,849...65,291,070
Ensembl chr10:65,272,849...65,291,064 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Perrault syndrome 7
        Gonadal Dysgenesis, XX Type, with Deafness + 2
        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 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  Deafness 270
                    Perrault syndrome 7
                      Gonadal Dysgenesis, XX Type, with Deafness + 2
                      Perrault Syndrome 2 1
                      Perrault Syndrome 3 1
                      Perrault Syndrome 4 1
                      Perrault syndrome 5 1
                      Perrault syndrome 6 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.