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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:Conductive Hearing Loss
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Accession:DOID:9003483 term browser browse the term
Definition:Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES.
Synonyms:primary_id: MESH:D006314
 alt_id: RDO:0000754
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Conductive Hearing Loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:24033266 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Conductive hearing loss ClinVar PMID:30311386 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Nog noggin ISO RGD PMID:18096605 RGD:12801451 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by OMIM:302905 OMIM
ClinVar
PMID:839509, PMID:22784330 NCBI chr  X:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
JBrowse link
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome ClinVar
OMIM
PMID:20186786, PMID:25741868, PMID:27426734, PMID:29467388, PMID:32105826 NCBI chr 5:47,183,142...47,244,424
Ensembl chr 5:47,186,558...47,244,416
JBrowse link
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness OMIM
ClinVar
PMID:7752132, PMID:8325895, PMID:9101290, PMID:9800905, PMID:22496037, PMID:25741868, PMID:27390512, PMID:28018693, PMID:28492532, PMID:28983407 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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
ClinVar Annotator: match by term: Deafness, X-linked 2
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
Zunich Neuroectodermal Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by OMIM:280000
ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5
OMIM
ClinVar
PMID:3041916, PMID:7666399, PMID:8893234, PMID:18414213, PMID:22444671, PMID:23561846, PMID:24784135, PMID:25250048, PMID:25741868, PMID:28371479, PMID:28492532, PMID:30311386 NCBI chr10:48,774,018...48,831,848
Ensembl chr10:48,773,828...48,831,855
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      auditory system disease 754
        Hearing Disorders 614
          Hearing Loss 609
            Conductive Hearing Loss 12
              Abruzzo-Erickson syndrome 1
              Cleft Palate, Deafness, and Oligodontia 0
              Cochlear Deafness with Myopia and Intellectual Impairment 0
              Conductive Deafness with Malformed External Ear 0
              Conductive Stapedial Deafness with Ear Malformation and Facial Palsy 0
              Deafness Conductive Ptosis Skeletal Anomalies 0
              GOMBO Syndrome 0
              Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 0
              Mengel Konigsmark Syndrome 0
              Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 0
              Microtia, Meatal Atresia and Conductive Deafness 0
              Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones 1
              Neural Deafness with Atypical Atopic Dermatitis 0
              Progressive Deafness with Stapes Fixation 0
              Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 0
              Schweitzer Kemink Graham Syndrome 0
              Siegler Brewer Carey Syndrome 0
              Stoll Levy Francfort Syndrome 0
              X-linked deafness 2 3
              Zunich Neuroectodermal Syndrome 1
              multiple epiphyseal dysplasia with myopia and deafness 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  Conductive Hearing Loss 12
                    Abruzzo-Erickson syndrome 1
                    Cleft Palate, Deafness, and Oligodontia 0
                    Cochlear Deafness with Myopia and Intellectual Impairment 0
                    Conductive Deafness with Malformed External Ear 0
                    Conductive Stapedial Deafness with Ear Malformation and Facial Palsy 0
                    Deafness Conductive Ptosis Skeletal Anomalies 0
                    GOMBO Syndrome 0
                    Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 0
                    Mengel Konigsmark Syndrome 0
                    Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 0
                    Microtia, Meatal Atresia and Conductive Deafness 0
                    Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones 1
                    Neural Deafness with Atypical Atopic Dermatitis 0
                    Progressive Deafness with Stapes Fixation 0
                    Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 0
                    Schweitzer Kemink Graham Syndrome 0
                    Siegler Brewer Carey Syndrome 0
                    Stoll Levy Francfort Syndrome 0
                    X-linked deafness 2 3
                    Zunich Neuroectodermal Syndrome 1
                    multiple epiphyseal dysplasia with myopia and deafness 1
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.