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: Central Auditory Diseases
Accession: DOID:9008117
browse the term
Definition: Disorders of hearing or auditory perception due to pathological processes of the AUDITORY PATHWAYS in the CENTRAL NERVOUS SYSTEM. These include CENTRAL HEARING LOSS and AUDITORY PERCEPTUAL DISORDERS.
Synonyms: exact_synonym: Auditory Cortex Disorders; Central Auditory Disease; Central Auditory Dysfunction; Central Auditory Pathway Disorders; auditory cortex disorder; central auditory dysfunctions
primary_id: MESH:D001304
alt_id: RDO:0004945
For additional species annotation, visit the
Alliance of Genome Resources .
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Fdxr
ferredoxin reductase
ISO
ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY
ClinVar OMIM
PMID:24033266 PMID:25741868 PMID:28965846
NCBI chr10:103,817,724...103,826,413
Ensembl chr10:103,817,704...103,826,448
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10578459
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
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Vsx1
visual system homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15051220
NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
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Diaph3
diaphanous-related formin 3
ISO
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant, 1 ClinVar Annotator: match by null
OMIM ClinVar
PMID:20624953 PMID:25741868 PMID:28492532
NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
ClinVar
PMID:25326637 PMID:28492532
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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Igsf6
immunoglobulin superfamily, member 6
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868
NCBI chr 1:190,997,029...191,007,503
Ensembl chr 1:190,997,029...191,007,503
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Mettl9
methyltransferase like 9
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868
NCBI chr 1:190,962,935...191,009,926
Ensembl chr 1:190,964,885...191,009,926
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Otoa
otoancorin
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868
NCBI chr 1:191,029,861...191,097,524
Ensembl chr 1:191,029,861...191,097,290
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Otof
otoferlin
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar Annotator: match by OMIM:601071 DNA:nonsense mutation:cds:p.Y730X (human) DNA:nonsense mutation:cds:p.Q829X (human) DNA:snp:intron:IVS8-2A>G (human) DNA:missense mutation:cds:p.L1011P (human) associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human) DNA:snps, deletion:cds:multiple (human) DNA:missense mutation:cds:p.R1939Q (human) DNA:missense mutation:cds:p.D1767G (mouse) DNA:duplication:cds:c.1981dupG (human)
OMIM ClinVar
PMID:9657592 PMID:10192385 PMID:10878664 PMID:10903124 PMID:12114484 PMID:12127154 PMID:12525542 PMID:14635104 PMID:16097006 PMID:16226319 PMID:16283880 PMID:16371502 PMID:17512949 PMID:18381613 PMID:18804553 PMID:19250381 PMID:19461658 PMID:20146813 PMID:20224275 PMID:20230791 PMID:20301429 PMID:20504331 PMID:21557232 PMID:21935370 PMID:22575033 PMID:22607986 PMID:22906306 PMID:23208854 PMID:23562982 PMID:24033266 PMID:24053799 PMID:24746455 PMID:24814232 PMID:25262649 PMID:25741868 PMID:25991456 PMID:26186295 PMID:26434960 PMID:26467025 PMID:26763877 PMID:26818607 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27082237 PMID:27177047 PMID:27621663 PMID:27729456 PMID:27766948 PMID:27821677 PMID:28492532 PMID:28766844 PMID:29048421 PMID:29362361 PMID:29752989 PMID:30096381 PMID:30245029 PMID:30303587 PMID:31095577 , PMID:10192385 , PMID:12114484 , PMID:10903124 , PMID:16097006 , PMID:20230791 , PMID:14635104 , PMID:22575033 , PMID:22575033 , PMID:22906306
RGD:9479153 , RGD:9479156 , RGD:737640 , RGD:9479157 , RGD:9479161 , RGD:9491386 , RGD:9491826 , RGD:9491826 , RGD:9585724
NCBI chr 6:27,328,343...27,424,864
Ensembl chr 6:27,328,406...27,424,864
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Rai1
retinoic acid induced 1
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868 PMID:27082237
NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
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Prps1
phosphoribosyl pyrophosphate synthetase 1
ISO
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5 ClinVar Annotator: match by OMIM:311070
OMIM ClinVar
PMID:17701900 PMID:24285972 PMID:25182139 PMID:25491489 PMID:28492532
NCBI chr X:111,798,233...111,820,270
Ensembl chr X:111,798,233...111,820,266
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Timm8a1
translocase of inner mitochondrial membrane 8A1
ISO
DNA:mutation:intron:IVS1-23A>C(human) ClinVar Annotator: match by term: Deafness dystonia syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome DNA:mutation:exon:116delT(Q38fsX64)(human) DNA:deletion:cds:108delG(human)
ClinVar CTD OMIM
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17851739 PMID:17936919 PMID:24033266 , PMID:15710860 , PMID:17471106 , PMID:11601506
RGD:13209130 , RGD:13209136 , RGD:13209134
NCBI chr X:105,351,714...105,355,722
Ensembl chr X:105,352,402...105,355,716
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Pnpla8
patatin-like phospholipase domain containing 8
ISO
ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis
ClinVar OMIM
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532
NCBI chr 6:64,224,870...64,288,465
Ensembl chr 6:64,224,861...64,286,785
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Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: Deafness, X-linked 5
ClinVar OMIM
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532
NCBI chr X:135,304,063...135,343,062
Ensembl chr X:135,304,066...135,343,087
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Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Deafness, X-linked 5
ClinVar
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532
NCBI chr X:135,348,799...135,360,204
Ensembl chr X:135,348,436...135,360,203
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