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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 deafness 2
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Accession:DOID:0111737 term browser browse the term
Definition:An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. (DO)
Synonyms:exact_synonym: DFN3;   DFNX2;   Deafness 3, conductive, with stapes fixation;   Deafness, Conductive, with Stapes Fixation;   Nance deafness;   Perilymphatic gusher-deafness syndrome;   Progressive Hearing Loss Stapes Fixation;   X-linked deafness type 2;   X-linked mixed conductive and neurosensory deafness;   X-linked mixed conductive and neurosensory hearing loss;   X-linked mixed conductive and sensorineural deafness;   X-linked mixed conductive and sensorineural hearing loss;   X-linked stapes gusher syndrome;   mixed deafness with perilymphatic gusher;   profound sensorineural deafness with or without a conductive component;   profound sensorineural deafness with or without a conductive component, associated with a unique developmental abnormality of the ear
 primary_id: MESH:C536424
 alt_id: OMIM:304400
 xref: ORDO:383
For additional species annotation, visit the Alliance of Genome Resources.


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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: 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
ClinVar
PMID:1218943, PMID:1693158, PMID:8789457, PMID:9139825, PMID:9336442, PMID:9393973, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:10218527, PMID:10376574, PMID:10508996, PMID:10544226, PMID:10607953, PMID:10633133, PMID:10830906, PMID:10874298, PMID:10905664, PMID:10982180, PMID:11073548, PMID:11216656, PMID:11313763, PMID:11439000, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11935342, PMID:11968091, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12560944, PMID:12562518, PMID:12746422, PMID:12786758, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15700112, PMID:15855033, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16840571, PMID:16864573, PMID:16950989, PMID:16952406, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18941476, PMID:18983339, PMID:18987669, PMID:18988928, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19366456, PMID:19371219, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20381175, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20981092, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21465647, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22695344, PMID:22701767, PMID:22796187, PMID:22808909, PMID:22975760, PMID:22995991, PMID:23141775, PMID:23477838, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24529908, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26467025, PMID:26553399, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26969326, PMID:27057829, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27481527, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30989077, PMID:31160754, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Deafness, X-linked 2
ClinVar Annotator: match by OMIM:304400
OMIM
ClinVar
PMID:1783396, PMID:7581392, PMID:7839145, PMID:9298820, PMID:23076972, PMID:23606368, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29287890 NCBI chr  X:82,143,789...82,145,066
Ensembl chr  X:82,143,789...82,145,066
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    sensory system disease 5213
      auditory system disease 754
        Hearing Disorders 614
          Hearing Loss 609
            Conductive Hearing Loss 12
              X-linked deafness 2 3
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  Deafness 270
                    nonsyndromic deafness 168
                      X-linked nonsyndromic deafness 9
                        X-linked deafness 2 3
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.