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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 4:63,970,939...64,328,107
Ensembl chr 4:63,970,807...64,328,105 		JBrowse link
G NOG noggin ISO RGD PMID:18096605 RGD:12801451 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206 		JBrowse link
G TBX1 T-box transcription factor 1 ISO DNA:missense mutation:CDS:p.W118R (mouse) RGD PMID:28105375 RGD:155663349 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725 		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 term: Abruzzo-Erickson syndrome OMIM
ClinVar		 PMID:839509 PMID:22784330 PMID:25741868 NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,284...63,846,483 		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 OMIM
ClinVar		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 More... NCBI chr12:59,217,267...59,256,896
Ensembl chr12:59,201,556...59,256,829 		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 OMIM
ClinVar		 PMID:20186786 PMID:25741868 PMID:27426733 PMID:27426734 PMID:28492532 More... NCBI chr 1:58,482,046...58,548,087
Ensembl chr 1:58,481,956...58,548,057 		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 OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718 		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 ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear ClinVar PMID:10730756 PMID:11017065 PMID:12419304 PMID:12788524 PMID:14708603 More... NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046 		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 OMIM
ClinVar		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chr  X:66,765,044...66,766,642
Ensembl chr  X:66,765,105...66,766,190 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      Hearing Disorders 768
        Hearing Loss 763
          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 17415
    Pathological Conditions, Signs and Symptoms 11801
      Signs and Symptoms 9739
        Neurologic Manifestations 9419
          sensory system disease 6506
            Otorhinolaryngologic Diseases 1658
              auditory system disease 940
                Hearing Disorders 768
                  Hearing Loss 763
                    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