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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.



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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 chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
JBrowse link
G Nog noggin ISO RGD PMID:18096605 RGD:12801451 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647
JBrowse link
CHIME 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 term: CHIME syndrome
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 OMIM:280000
OMIM
ClinVar
PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More... NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145
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:27426733 PMID:27426734 PMID:29467388 More... NCBI chr 5:46,356,973...46,415,597
Ensembl chr 5:46,357,931...46,415,597
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:9800905 PMID:22496037 PMID:25741868 PMID:27390512 PMID:28018693 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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 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 CTD 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 OMIM:304400
OMIM
ClinVar
PMID:1783396 PMID:7581392 PMID:7839145 PMID:9298820 PMID:23076972 More... NCBI chr  X:75,858,646...75,859,923
Ensembl chr  X:75,858,646...75,859,923
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      auditory system disease 913
        Hearing Disorders 741
          Hearing Loss 737
            Conductive Hearing Loss 10
              Abruzzo-Erickson syndrome 1
              CHIME 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
              multiple epiphyseal dysplasia with myopia and deafness 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            auditory system disease 913
              Hearing Disorders 741
                Hearing Loss 737
                  Conductive Hearing Loss 10
                    Abruzzo-Erickson syndrome 1
                    CHIME 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
                    multiple epiphyseal dysplasia with myopia and deafness 1
paths to the root