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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



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Conductive Hearing Loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
G Tbx1 T-box transcription factor 1 ISO DNA:missense mutation:CDS:p.W118R (mouse) RGD PMID:28105375 RGD:155663349 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Abruzzo-Erickson syndrome
OMIM
CTD
ClinVar
PMID:839509 PMID:22784330 PMID:25741868 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: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:CDS:c.500T>C (p.L167P) (human)
OMIM
ClinVar
CTD
RGD
PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 More... RGD:243048422 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 DNA:missense mutations, deletions:CDS:multiple (human)
ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome
OMIM
ClinVar
RGD
PMID:20186786 PMID:25741868 PMID:27426733 PMID:27426734 PMID:28492532 More... RGD:11552967 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 | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:129,098,489...129,127,560
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
CTD
ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 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:10730756 PMID:11017065 PMID:12419304 PMID:12788524 PMID:14708603 More... NCBI chr15:31,284,561...31,294,552
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 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 18976
    sensory system disease 7029
      Hearing Disorders 818
        Hearing Loss 813
          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 Deafness with Ptosis and Skeletal Anomalies 0
            Conductive Stapedial Deafness with Ear Malformation and Facial Palsy 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 18976
    Pathological Conditions, Signs and Symptoms 13381
      Signs and Symptoms 10871
        Neurologic Manifestations 10108
          sensory system disease 7029
            Otorhinolaryngologic Diseases 1738
              auditory system disease 992
                Hearing Disorders 818
                  Hearing Loss 813
                    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 Deafness with Ptosis and Skeletal Anomalies 0
                      Conductive Stapedial Deafness with Ear Malformation and Facial Palsy 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