Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:cortical deafness
go back to main search page
Accession:DOID:0060140 term browser browse the term
Definition:An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. (DO)
Synonyms:exact_synonym: central hearing loss
 primary_id: MESH:D006313
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
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 16918
    sensory system disease 5332
      auditory system disease 851
        retrocochlear disease 32
          Central Auditory Diseases 15
            cortical deafness 13
              Auditory Neuropathy + 10
              Charcot-Marie-Tooth disease X-linked recessive 5 1
              Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 0
              Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 0
              Deafness, Nephritis, Anorectal Malformation 0
              Deafness, Neural, Congenital Moderate 0
              Deafness, Neurosensory, Autosomal Recessive 47 0
              Groll Hirschowitz Syndrome 0
              Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
              Mitochondrial Myopathy with Lactic Acidosis 1
              Ruzicka Goerz Anton syndrome 0
              Santos Mateus Leal Syndrome 0
              autosomal recessive nonsyndromic deafness 51 0
              autosomal recessive nonsyndromic deafness 55 0
              deafness-dystonia-optic neuronopathy syndrome 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            disease of mental health 6930
              developmental disorder of mental health 4270
                specific developmental disorder 3534
                  communication disorder 240
                    agnosia 33
                      cortical deafness 13
                        Auditory Neuropathy + 10
                        Charcot-Marie-Tooth disease X-linked recessive 5 1
                        Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 0
                        Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 0
                        Deafness, Nephritis, Anorectal Malformation 0
                        Deafness, Neural, Congenital Moderate 0
                        Deafness, Neurosensory, Autosomal Recessive 47 0
                        Groll Hirschowitz Syndrome 0
                        Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 0
                        Mitochondrial Myopathy with Lactic Acidosis 1
                        Ruzicka Goerz Anton syndrome 0
                        Santos Mateus Leal Syndrome 0
                        autosomal recessive nonsyndromic deafness 51 0
                        autosomal recessive nonsyndromic deafness 55 0
                        deafness-dystonia-optic neuronopathy syndrome 1
paths to the root