Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:X-linked nonsyndromic deafness
go back to main search page
Accession:DOID:0050566 term browser browse the term
Definition:A nonsyndromic deafness characterized by an X-linked inheritance mode. (DO)
Synonyms:exact_synonym: X-linked deafness
 xref: OMIM:PS304500;   ORDO:90625


show annotations for term's descendants           Sort by:
X-linked nonsyndromic deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein, X-linked ISO ClinVar Annotator: match by term: X-linked deafness ClinVar NCBI chr  X:37,233,209...37,292,266
Ensembl chr  X:37,234,294...37,276,708 		JBrowse link
X-linked deafness 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO DNA:missense mutation:exon:p.G306E (c.917G>A) (human)
ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More... RGD:11061884 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
X-linked deafness 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear		 CTD
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear		 CTD
ClinVar		 PMID:10730756 PMID:11017065 PMID:12419304 PMID:12788524 PMID:14708603 More... NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chr  X:75,858,646...75,859,923
Ensembl chr  X:75,858,646...75,859,923 		JBrowse link
X-linked deafness 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein, X-linked ISO
ISS		 OMIM:300066
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4		 OMIM
MouseDO
CTD
ClinVar		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chr  X:37,233,209...37,292,266
Ensembl chr  X:37,234,294...37,276,708 		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: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 		JBrowse link
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 		JBrowse link
X-linked deafness 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, X-linked 6		 OMIM
CTD
ClinVar		 PMID:23714752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33840813 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
X-linked deafness 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome OMIM
ClinVar		 PMID:25741868 NCBI chr  X:98,817,668...98,823,814
Ensembl chr  X:98,817,593...98,824,402 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    sensory system disease 6867
      auditory system disease 946
        inner ear disease 630
          sensorineural hearing loss 588
            X-linked nonsyndromic deafness 9
              X-linked deafness 1 1
              X-linked deafness 2 3
              X-linked deafness 3 0
              X-linked deafness 4 1
              X-linked deafness 5 2
              X-linked deafness 6 1
              X-linked deafness 7 1
Path 2
Term Annotations click to browse term
  disease 21112
    Pathological Conditions, Signs and Symptoms 13291
      Signs and Symptoms 10731
        Neurologic Manifestations 9971
          sensory system disease 6867
            Otorhinolaryngologic Diseases 1692
              auditory system disease 946
                Hearing Disorders 776
                  Hearing Loss 772
                    Deafness 342
                      nonsyndromic deafness 202
                        X-linked nonsyndromic deafness 9
                          X-linked deafness 1 1
                          X-linked deafness 2 3
                          X-linked deafness 3 0
                          X-linked deafness 4 1
                          X-linked deafness 5 2
                          X-linked deafness 6 1
                          X-linked deafness 7 1
paths to the root