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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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      auditory system disease 767
        retrocochlear disease 27
          Central Auditory Diseases 7
            Auditory Perceptual Disorders + 2
            cortical deafness + 5
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              retrocochlear disease 27
                Central Auditory Diseases 7
                  Auditory Perceptual Disorders + 2
                  cortical deafness + 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.