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
G
Fdxr
ferredoxin reductase
ISO
ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY
OMIM ClinVar
PMID:6766943 PMID:24033266 PMID:25741868 PMID:28965846 PMID:29040572 PMID:30250212 More...
NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
G
Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10578459
NCBI chr 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240
G
Vsx1
visual system homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15051220
NCBI chr 3:139,514,270...139,521,869
Ensembl chr 3:139,514,270...139,521,869
G
Diaph3
diaphanous-related formin 3
ISO
ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1
OMIM ClinVar
PMID:20624953 PMID:25741868 PMID:27658576 PMID:28492532
NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
G
Atp11a
ATPase phospholipid transporting 11A
ISO
OMIM
NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640
G
Tmem43
transmembrane protein 43
ISO
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3
OMIM ClinVar
PMID:18230648 PMID:20435227 PMID:21391237 PMID:21636032 PMID:23161701 PMID:23178689 PMID:23555315 PMID:23812740 PMID:23861362 PMID:24033266 PMID:25343256 PMID:25351510 PMID:25741868 PMID:25820315 PMID:26467025 PMID:26840987 PMID:28492532 PMID:29311375 PMID:30847666 PMID:34050020 More...
NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
G
Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
G
Igsf6
immunoglobulin superfamily, member 6
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868
NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722
G
Mettl9
methyltransferase 9, His-X-His N1-histidine
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868
NCBI chr 1:175,575,805...175,623,065
Ensembl chr 1:175,577,890...175,623,061
G
Otoa
otoancorin
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868
NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
G
Otof
otoferlin
ISO
ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 DNA:duplication:cds:c.1981dupG (human) DNA:missense mutation:cds:p.D1767G (mouse) DNA:missense mutation:cds:p.R1939Q (human) DNA:snps, deletion:cds:multiple (human) associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human) DNA:missense mutation:cds:p.L1011P (human) DNA:snp:intron:IVS8-2A>G (human) DNA:nonsense mutation:cds:p.Q829X (human) DNA:nonsense mutation:cds:p.Y730X (human)
OMIM ClinVar RGD
PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 PMID:10903124 PMID:11483641 PMID:12114484 PMID:12127154 PMID:12525542 PMID:14635104 PMID:16097006 PMID:16226319 PMID:16283880 PMID:16371502 PMID:17036997 PMID:17512949 PMID:17576681 PMID:18381613 PMID:18804553 PMID:19250381 PMID:19461658 PMID:19636622 PMID:20146813 PMID:20211493 PMID:20224275 PMID:20230791 PMID:20301429 PMID:20504331 PMID:21117948 PMID:21216247 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:25326637 PMID:25525159 PMID:25741868 PMID:25991456 PMID:26186295 PMID:26188103 PMID:26434960 PMID:26445815 PMID:26467025 PMID:26632695 PMID:26763877 PMID:26818607 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27082237 PMID:27177047 PMID:27621663 PMID:27652356 PMID:27657688 PMID:27729456 PMID:27766948 PMID:27821677 PMID:28335750 PMID:28492532 PMID:28766844 PMID:29048421 PMID:29196752 PMID:29362361 PMID:29484972 PMID:29752989 PMID:30096381 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30368385 PMID:31095577 PMID:31589614 PMID:31827501 PMID:31980526 PMID:32747562 PMID:32906206 PMID:33095980 PMID:33256196 PMID:34113375 PMID:34536124 PMID:34599368 PMID:34652575 PMID:22906306 PMID:22575033 PMID:22575033 PMID:14635104 PMID:20230791 PMID:16097006 PMID:10903124 PMID:12114484 PMID:10192385 More...
RGD:9585724 , RGD:9491826 , RGD:9491826 , RGD:9491386 , RGD:9479161 , RGD:9479157 , RGD:737640 , RGD:9479156 , RGD:9479153
NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
G
Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder
ClinVar
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
G
Rai1
retinoic acid induced 1
ISO
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar
PMID:25741868 PMID:27082237 PMID:28492532
NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
G
Prps1
phosphoribosyl pyrophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy
OMIM ClinVar
PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 PMID:32781272 More...
NCBI chr X:104,132,139...104,154,191
Ensembl chr X:104,132,141...104,154,187
G
Btk
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Deafness dystonia syndrome
ClinVar
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
G
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 DNA:mutation:exon:116delT(Q38fsX64)(human) DNA:deletion:cds:108delG(human)
ClinVar CTD OMIM RGD
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 PMID:15037720 PMID:15710860 PMID:16411215 PMID:17851739 PMID:17936919 PMID:17999202 PMID:20301395 PMID:24033266 PMID:25741868 PMID:15710860 PMID:17471106 PMID:11601506 More...
RGD:13209130 , RGD:13209136 , RGD:13209134
NCBI chr X:97,717,932...97,721,918
Ensembl chr X:97,717,920...97,721,960
G
Pnpla8
patatin-like phospholipase domain containing 8
ISO
ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis
OMIM ClinVar
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:34782754
NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734
G
Aifm1
apoptosis inducing factor, mitochondria associated 1
ISO
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
OMIM ClinVar
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270
NCBI chr X:127,650,223...127,689,356
Ensembl chr X:127,650,226...127,689,256
G
Rab33a
RAB33A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
ClinVar
PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270
NCBI chr X:127,694,219...127,706,378
Ensembl chr X:127,694,964...127,706,378
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all