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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:X-linked nonsyndromic deafness
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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1
DNA:missense mutation:exon:p.G306E (c.917G>A) (human)
OMIM
ClinVar
RGD
PMID:8968763 PMID:10503584 PMID:15240907 PMID:20021999 PMID:24033266 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:1218943 PMID:1693158 PMID:8789457 PMID:9139825 PMID:9336442 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:11017065 PMID:12419304 PMID:12788524 PMID:15213106 PMID:15769851 More... NCBI chr15:31,284,562...31,295,010
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 OMIM
ClinVar
PMID:1783396 PMID:7581392 PMID:7839145 PMID:9298820 PMID:19671658 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 ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4 OMIM
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 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
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 ClinVar Annotator: match by term: Deafness, X-linked 6 OMIM
ClinVar
PMID:23714752 PMID:25741868 PMID:26467025 PMID:28492532 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:98,817,669...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 18030
    sensory system disease 6469
      auditory system disease 975
        inner ear disease 694
          sensorineural hearing loss 652
            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 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          Otorhinolaryngologic Diseases 1556
            auditory system disease 975
              Hearing Disorders 800
                Hearing Loss 796
                  Deafness 397
                    nonsyndromic deafness 288
                      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