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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:Central Auditory Diseases
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Accession:DOID:9008117 term browser 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.

show annotations for term's descendants           Sort by:
 
Auditory Neuropathy and Optic Atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Auditory Perceptual Disorders term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
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 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      auditory system disease 751
        retrocochlear disease 32
          Central Auditory Diseases 15
            Auditory Perceptual Disorders + 2
            cortical deafness + 13
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            auditory system disease 751
              retrocochlear disease 32
                Central Auditory Diseases 15
                  Auditory Perceptual Disorders + 2
                  cortical deafness + 13
paths to the root