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.
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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
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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
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISS ISO
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 ClinVar Annotator: match by term: Perrault syndrome
MouseDO ClinVar
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 More...
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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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 PMID:32747562 More...
NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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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
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISO
ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:15216544 PMID:16385454 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:25526675 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27290639 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28830375 PMID:31455392 PMID:32747562 PMID:33539324 PMID:34906502 More...
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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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
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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 PMID:31449985 PMID:31486067 More...
NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
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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 PMID:24824130 PMID:25741868 PMID:26467025 PMID:27087618 More...
NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693
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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 PMID:26657938 PMID:26970254 PMID:28492532 PMID:28708303 PMID:29205794 PMID:30311386 PMID:30737337 PMID:32399598 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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Twnk
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Perrault syndrome 5
OMIM ClinVar
PMID:25355836 PMID:25741868 PMID:28492532
NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Eral1
Era-like 12S mitochondrial rRNA chaperone 1
ISO
ClinVar Annotator: match by term: Perrault syndrome 6
OMIM ClinVar
PMID:25741868 PMID:28449065
NCBI chr10:62,961,729...62,968,766
Ensembl chr10:62,961,730...62,968,994
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all