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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: MIM:PS304500;   ORDO:90625


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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:41,049,354...41,107,323
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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1		 OMIM
CTD
ClinVar
RGD		 PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More... RGD:11061884 NCBI chr  X:108,920,663...108,942,713
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 chr15:35,375,977...35,393,817
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:14708603 PMID:15213106 More... NCBI chr15:35,400,147...35,410,649
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness mixed with perilymphatic gusher | ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: POU3F4-related condition | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear		 OMIM
CTD
ClinVar		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chr  X:79,974,808...79,976,085
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		 ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4
OMIM:300066
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chr  X:41,049,354...41,107,323
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5		 OMIM
CTD
ClinVar		 PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:29625556 More... NCBI chr  X:132,528,107...132,567,237
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, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:29625556 More... NCBI chr  X:132,572,133...132,584,255
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: COL4A6-related condition | ClinVar Annotator: match by term: Deafness, X-linked 6 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23714752 PMID:25741868 PMID:26467025 More... NCBI chr  X:109,554,945...109,905,987
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: GPRASP2-related condition | ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:103,609,304...103,615,450
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 19140
    sensory system disease 7381
      auditory system disease 1064
        inner ear disease 736
          sensorineural hearing loss 647
            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 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            Otorhinolaryngologic Diseases 1798
              auditory system disease 1064
                Hearing Disorders 848
                  Hearing Loss 843
                    Deafness 386
                      nonsyndromic deafness 222
                        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