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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.



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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 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISS OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 MouseDO 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
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 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 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 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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: Perrault syndrome 1
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency
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 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 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 PMID:31486067 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 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 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 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 More... NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name 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 Annotator: match by term: Perrault syndrome 6
ClinVar
OMIM
PMID:25741868 PMID:28449065 NCBI chr10:62,961,729...62,968,766
Ensembl chr10:62,961,730...62,968,994
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      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 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1343
            auditory system disease 909
              Hearing Disorders 739
                Hearing Loss 735
                  Deafness 385
                    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